Normal Chrom Pos Ref Alt Gene Transcript RNA CDS Protein Effect DIS_sample_PD9776b_depth DIS_MtAll_PD9776b DIS_MtAllPct_PD9776b DIS_sample_PD9776a_depth DIS_MtAll_PD9776a DIS_MtAllPct_PD9776a DIS_sample_PD9776c_depth DIS_MtAll_PD9776c DIS_MtAllPct_PD9776c VAL_sample_PD9776b_depth VAL_MtAll_PD9776b VAL_MtAllPct_PD9776b VAL_sample_PD9776a_depth VAL_MtAll_PD9776a VAL_MtAllPct_PD9776a VAL_sample_WGA_PD9776c_depth VAL_MtAll_WGA_PD9776c VAL_MtAllPct_WGA_PD9776c in.discovery in.validation subclonal.CN.a subclonal.CN.c nMaj1.a nMaj1.c nMin1.a nMin1.c frac1.a frac1.c nMaj2.a nMaj2.c nMin2.a nMin2.c frac2.a frac2.c mutation.copy.number.a subclonal.fraction.a no.chrs.bearing.mut.a mutation.copy.number.c subclonal.fraction.c no.chrs.bearing.mut.c val.mutation.copy.number.a val.subclonal.fraction.a val.no.chrs.bearing.mut.a val.mutation.copy.number.c val.subclonal.fraction.c val.no.chrs.bearing.mut.c discovery.DP.cluster validation.DP.cluster pbinom_dis_b pbinom_val_b pbinom_dis_a pbinom_val_a pbinom_dis_c pbinom_val_c VAL_LOCUS val_status_a val_status_c current.conf.status val.platform PD9776b 11 34457203 G A CAT CCDS7891.1 r.? - - upstream 17 0 0 30 4 13.3 22 1 4.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.51450677 0.51450677 1 0.200445434 0.200445434 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000154 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 188968298 C A TPRG1 CCDS3292.1 r.? - - intronic 13 0 0 11 3 27.3 15 2 13.3 0 0 NA 1 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.329092843 1.329092843 1 0.725427617 0.725427617 1 0 0 1 NA NA 1 5 NA 1 1 0.00002 1 0.002513772 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 94001049 T G GRID2 CCDS3637.1 r.? - - intronic 47 0 0 27 3 11.1 27 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.318400387 0.318400387 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000334187 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 101567576 A G - - - - - - 36 0 0 29 11 37.9 14 3 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 0.0000437 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 106186840 G A - - - - - - 8 0 0 15 5 33.3 9 3 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000009 1 0.0000103 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 1042728 C G AL358976.1 ENST00000500181 r.? - - upstream 24 0 0 23 0 0 2 2 100 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 4.454342984 2.227171492 2 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000025 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 99678559 G A - - - - - - 40 0 0 57 6 10.5 41 3 7.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.511189555 0.511189555 1 0.398167038 0.398167038 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000456 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 6111905 C G - - - - - - 29 0 0 51 4 7.8 56 11 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.379740812 0.379740812 1 1.069051225 1.069051225 1 NA NA 1 NA NA 1 5 NA 1 1 0.000129466 1 5.91E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 63587693 T A - - - - - - 33 0 0 28 3 10.7 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.306926499 0.306926499 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 0.000372895 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 84710643 G A ADAMTSL3 CCDS10326.1 r.? - - downstream 18 0 0 28 4 14.3 46 14 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000116 1 1.26E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 62113960 C T CCT4 CCDS33206.1 r.? - - intronic 25 0 0 28 4 14.3 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000116 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 35218760 G T - - - - - - 37 0 0 25 4 16 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.618955513 0.618955513 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000727 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 59159548 C G - - - - - - 30 0 0 26 3 11.5 21 1 4.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.444874275 0.444874275 1 0.213808463 0.213808463 1 NA NA 1 NA NA 1 5 NA 1 1 0.000298167 1 0.099912572 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 167309322 A G WDR49 CCDS3201.1 r.? - - intronic 51 0 0 37 4 10.8 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.417794971 0.417794971 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000362 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 189874657 A G - - - - - - 30 0 0 48 5 10.4 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.506321083 0.506321083 1 0.970873051 0.970873051 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000447 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 121947952 A G - - - - - - 35 0 0 66 5 7.6 66 6 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.446003868 0.446003868 1 0.587345212 0.587345212 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000217 1 0.0000011 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 27278467 C A - - - - - - 33 0 0 46 5 10.9 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.421663443 0.421663443 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000361 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 13094405 A G SHISA9 CCDS45417.1 r.? - - intronic 32 0 0 53 14 26.4 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.393904011 3.160996228 1 2 1 1 0.606095989 0.839003772 2 2 1 2 0.393904011 0.160996228 1.125267255 1.125267255 1 0.741224776 0.741224776 1 NA NA 0 NA NA 1 5 NA 1 1 1.22E-20 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 8219178 C T - - - - - - 36 0 0 40 6 15 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.730270793 0.730270793 1 0.659975501 0.659975501 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-08 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 71270840 G T - - - - - - 28 0 0 26 4 15.4 20 3 15 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 0.668151448 0.668151448 1 NA NA 1 0 0 1 5 NA 1 1 0.00000856 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 22471711 C A - - - - - - 32 0 0 31 9 29 19 4 21.1 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 52262018 C A - - - - - - 46 0 0 39 1 2.6 23 3 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.074580271 0.074580271 1 0.449064588 0.449064588 1 NA NA 1 NA NA 1 1 NA 1 1 0.177567718 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 38636198 C T - - - - - - 27 0 0 37 13 35.1 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 1.398084294 1.398084294 1 0.587540696 0.587540696 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 72868629 G T RIMS1 CCDS47449.1 r.? - - intronic 12 0 0 25 2 8 22 4 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.309477756 0.309477756 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 0.006948068 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 99359277 C T FBXL4 CCDS5041.1 r.? - - intronic 29 0 0 39 11 28.2 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 68493440 C T - - - - - - 34 0 0 34 5 14.7 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.568665377 0.568665377 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 57094113 C G PLAG1 CCDS6165.1 r.? - - intronic 22 0 0 20 4 20 22 3 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.935195331 0.935195331 1 0.741790646 0.741790646 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000284 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 69037105 A T EDA CCDS14394.1 r.? - - intronic 32 0 0 42 15 35.7 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.381044487 1.381044487 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 145644345 A T - - - - - - 34 0 0 28 0 0 25 3 12 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.414521158 0.414521158 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 204770776 A G - - - - - - 22 0 0 37 4 10.8 34 1 2.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.456961544 0.456961544 1 0.129175947 0.129175947 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000362 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 94735570 G C EXOC6 CCDS31247.1 r.? - - intronic 34 0 0 35 3 8.6 2 0 0 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.332688588 0.332688588 1 0 0 1 0 0 1 NA NA 1 5 NA 1 1 0.000725791 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 2207592 C T SMG6 CCDS11016.1 r.? - - upstream 27 0 0 42 14 33.3 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-22 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 14255127 A G - - - - - - 49 0 0 65 5 7.7 70 4 5.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.37487234 0.37487234 1 0.31089755 0.31089755 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000201 1 0.000440508 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 52877032 C A TMEM110 CCDS2866.1 r.? - - intronic 32 0 0 32 4 12.5 30 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.358558994 0.358558994 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000201 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 72888179 C T SHQ1 CCDS33788.1 r.? - - intronic 34 0 0 35 8 22.9 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 102099215 C A - - - - - - 37 0 0 61 0 0 37 4 10.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.589069042 0.589069042 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 40507910 G A - - - - - - 48 0 0 52 16 30.8 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-24 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 54971519 C A - - - - - - 30 0 0 39 11 28.2 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.118904253 1.118904253 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 73798228 C A C15orf60 CCDS45296.1 r.? - - intronic 35 0 0 52 11 21.2 54 4 7.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.131936932 3 3 1 1 1 0.868063068 NA 3 NA 2 NA 0.131936932 1.244116054 1.244116054 1 0.487384714 0.487384714 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-15 1 0.000161898 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 87176434 G T - - - - - - 36 0 0 33 7 21.2 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.608116054 0.608116054 1 0.383432071 0.383432071 1 NA NA 1 NA NA 1 4 NA 1 1 2.98E-10 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 20655033 G A - - - - - - 23 0 0 38 9 23.7 34 4 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.153827853 1.153827853 1 0.643612472 0.643612472 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 6110529 G T ENSG00000212983 ENST00000391666 r.? - - upstream 23 0 0 57 0 0 42 4 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.518162584 0.518162584 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 131428488 G C - - - - - - 27 0 0 30 8 26.7 13 3 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 0.0000344 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 24561736 C T CABIN1 CCDS13823.1 r.? - - intronic 33 0 0 40 6 15 35 4 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.580270793 0.580270793 1 0.5077951 0.5077951 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-08 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 127528491 G A - - - - - - 25 0 0 42 7 16.7 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.980034816 0.980034816 1 0.948788419 0.948788419 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 50780568 G C - - - - - - 26 0 0 32 11 34.4 27 3 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.330754352 1.330754352 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 75448779 G T - - - - - - 33 0 0 53 5 9.4 48 2 4.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.436695763 0.561863386 0.777227657 0.229082405 0.229082405 1 NA NA 0 NA NA 1 4 NA 1 1 0.00000734 1 0.024220359 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 3048958 A C - - - - - - 26 0 0 83 4 4.8 83 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.473686654 0.473686654 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000838577 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 47915186 G A FAM21B CCDS44379.1 r.? - - intronic 7 0 0 9 3 33.3 7 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000103 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 17671186 G T OTOG ENST00000399397 r.? - - downstream 24 0 0 49 7 14.3 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 0.725427617 0.725427617 1 NA NA 1 NA NA 1 5 NA 1 1 5.58E-09 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 39252879 T C CPNE8 CCDS8733.1 r.? - - intronic 36 0 0 34 4 11.8 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.456479691 0.456479691 1 0.948775056 0.948775056 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000257 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 52362654 G T GNG2 CCDS32082.1 r.? - - intronic 34 0 0 38 4 10.5 31 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.416613286 0.416613286 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000403 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 74265352 C G - - - - - - 27 0 0 72 5 6.9 39 1 2.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.131936932 3 3 1 1 1 0.868063068 NA 3 NA 2 NA 0.131936932 0.404924565 0.404924565 1 0.171243278 0.171243278 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000331 1 0.177567718 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 30279136 T C KLHL14 CCDS32813.1 r.? - - intronic 35 0 0 57 4 7 68 1 1.5 0 0 NA 2 0 0 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.365741898 1.026176409 0.356412304 0.093631804 0.093631804 1 0 0 1 NA NA 1 3 NA 1 1 0.000199821 1 0.288836448 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 62705118 A C - - - - - - 41 0 0 26 3 11.5 25 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.329874275 0.329874275 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000298167 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 1979619 G A - - - - - - 38 0 0 60 5 8.3 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.487083172 0.487083172 1 0.839064588 0.839064588 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000136 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 2014885 A C - - - - - - 13 0 0 40 16 40 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.347388781 1.173694391 2 1.432864143 1.432864143 1 NA NA 1 NA NA 1 5 NA 1 1 8.56E-27 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 92749890 C T SAMD9 CCDS34680.1 r.? - - upstream 32 0 0 38 4 10.5 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0.47674859 0.47674859 1 1.096872752 1.096872752 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000403 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 10636135 A T MRVI1 CCDS44539.1 r.? - - intronic 26 0 0 49 8 16.3 31 3 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.793560928 0.793560928 1 0.529071269 0.529071269 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-10 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 7984492 A T SNAPC2 CCDS12190.1 r.? - - upstream 16 0 0 39 0 0 32 3 9.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.418708241 0.418708241 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 24108612 G A C22orf15 CCDS13814.2 r.? - - downstream 19 0 0 17 1 5.9 11 4 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.228239845 0.228239845 1 1.621380846 1.621380846 1 NA NA 1 NA NA 1 5 NA 1 1 0.081683532 1 0.000000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 33510095 G A - - - - - - 13 0 0 16 1 6.2 17 4 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.24695506 0.24695506 1 1.070326074 1.070326074 1 NA NA 1 NA NA 1 5 NA 1 1 0.077068876 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 37753324 G C - - - - - - 31 0 0 34 7 20.6 25 4 16 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.820528104 0.820528104 1 0.728732646 0.728732646 1 0 0 1 NA NA 1 5 NA 1 1 3.73E-10 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 167651839 C T - - - - - - 28 0 0 24 4 16.7 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.479034816 0.479034816 1 0.459427617 0.459427617 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000613 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 74533263 C G C9orf85 CCDS6639.1 r.? - - intronic 30 0 0 31 10 32.3 25 3 12 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 0.534521158 0.534521158 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 92149222 G C - - - - - - 33 0 0 40 3 7.5 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.290135397 0.290135397 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 2 NA 1 1 0.001075403 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 66374041 C A - - - - - - 45 0 0 35 7 20 34 4 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.525612472 0.525612472 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 99940118 G A - - - - - - 34 0 0 56 6 10.7 51 1 2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.520926499 0.520926499 1 0.10908686 0.10908686 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000409 1 0.225579006 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 105659682 C A - - - - - - 30 0 0 39 4 10.3 50 5 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.501452611 0.501452611 1 0.545434298 0.545434298 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000447 1 0.00000549 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 3658742 C G DLGAP1 CCDS11836.1 r.? - - intronic 38 0 0 49 4 8.2 48 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.3992147 0.3992147 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000110643 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 78318745 G A - - - - - - 44 0 0 60 5 8.3 33 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.464460671 0.638486791 0.72743975 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000136 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 108058124 G T - - - - - - 8 0 0 21 5 23.8 4 1 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.060262475 1.060262475 1 1.363585746 1.363585746 1 NA NA 0 NA NA 1 5 NA 1 1 5.95E-08 1 0.019850499 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 115624598 G C SNX30 CCDS43865.1 r.? - - intronic 31 0 0 60 4 6.7 66 9 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.393187621 0.393187621 1 0.877790646 0.877790646 1 NA NA 1 NA NA 1 5 NA 1 1 0.000243755 1 5.59E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 79991258 A T BRWD3 CCDS14447.1 r.? - - intronic 19 0 0 27 4 14.8 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.572533849 0.572533849 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 0.00001 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 116975374 T A - - - - - - 32 1 3.1 15 3 20 17 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0 0 1 NA NA 1 NA NA 1 3 NA 0.14819814 1 0.0000544 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 76499117 T C - - - - - - 32 0 0 64 12 18.8 41 4 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 1.291272727 1.291272727 1 0.730525612 0.730525612 1 NA NA 1 NA NA 1 5 NA 1 1 6.3E-16 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 30373866 G A TBC1D10B CCDS10676.2 r.? - - intronic 30 0 0 35 5 14.3 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 62063909 A G - - - - - - 10 0 0 32 4 12.5 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.608558994 0.608558994 1 1.129048998 1.129048998 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000201 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 41390295 G C CYP2A7 CCDS12569.1 r.? - - upstream 6 0 0 10 2 20 10 4 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.781737194 1.781737194 1 NA NA 1 NA NA 1 5 NA 1 1 0.001095391 1 0.000000128 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 31909257 G T KRTAP19-6 CCDS13598.1 r.? - - downstream 39 0 0 29 10 34.5 21 3 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 0.493971047 0.493971047 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 5144489 C T - - - - - - 29 0 0 54 7 13 63 5 7.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.762901354 0.762901354 1 0.509893096 0.509893096 1 NA NA 1 NA NA 1 5 NA 1 1 1.13E-08 1 0.0000173 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 144697935 A T - - - - - - 42 0 0 25 0 0 21 3 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.493971047 0.493971047 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 121991502 C T - - - - - - 38 0 0 16 10 62.5 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.792794971 1.792794971 1 0.538877506 0.538877506 1 NA NA 1 NA NA 1 5 NA 1 1 7.61E-20 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 109150707 C G - - - - - - 37 0 0 47 17 36.2 23 3 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.400386847 1.400386847 1 0.579064588 0.579064588 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-27 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 64413379 T C - - - - - - 35 0 0 33 9 27.3 35 4 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.276541626 1.276541626 1 0.6217951 0.6217951 1 NA NA 0 NA NA 1 5 NA 1 1 6.76E-14 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 14306181 T G - - - - - - 32 0 0 45 13 28.9 30 3 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 7.68E-20 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 92472538 G A - - - - - - 33 0 0 38 3 7.9 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.305609284 0.305609284 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 2 NA 1 1 0.000925091 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 15711911 G A - - - - - - 44 0 0 34 5 14.7 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.568665377 0.568665377 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 40536977 A T SLC8A1 CCDS1806.1 r.? - - intronic 47 0 0 53 4 7.5 36 2 5.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.290135397 0.290135397 1 0.249443207 0.249443207 1 NA NA 1 NA NA 1 3 NA 1 1 0.000150502 1 0.014070883 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 66652745 C T - - - - - - 27 0 0 40 5 12.5 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000178 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 57100033 G A - - - - - - 30 0 0 36 4 11.1 32 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.540400387 0.540400387 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000324 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 60482901 C T FHIT CCDS2894.1 r.? - - intronic 34 0 0 30 4 13.3 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.51450677 0.51450677 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000154 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 47979525 A G C6orf138 ENST00000398738 r.? - - intronic 41 0 0 36 4 11.1 51 11 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.517648126 0.517648126 1 1.178138085 1.178138085 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000324 1 1.94E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 116035070 G A - - - - - - 35 0 0 28 4 14.3 35 3 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.383073497 0.383073497 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000116 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 95200433 A T - - - - - - 48 0 0 41 14 34.1 48 12 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.548297801 0.926020523 1.671990806 1.312048747 1.312048747 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-22 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 129198020 G C FAM125B CCDS35142.1 r.? - - intronic 34 0 0 49 4 8.2 39 2 5.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.3172147 0.3172147 1 0.227171492 0.227171492 1 NA NA 1 NA NA 1 3 NA 1 1 0.000110643 1 0.016387522 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 136215374 G A MED22 CCDS6963.1 r.? - - upstream 32 0 0 48 5 10.4 27 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.402321083 0.402321083 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000447 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 60115534 A C FGGY CCDS44155.1 r.? - - intronic 19 0 0 20 2 10 31 3 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.502062963 0.502062963 1 0.554756247 0.554756247 1 NA NA 1 NA NA 1 5 NA 1 1 0.004473894 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 106041794 C A - - - - - - 6 0 0 11 2 18.2 10 4 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 0.001334363 1 0.000000128 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 28302037 G A SBK1 CCDS32416.1 r.? - - upstream 26 0 0 42 1 2.4 46 5 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.092843327 0.092843327 1 0.485523385 0.485523385 1 NA NA 1 NA NA 1 1 NA 1 1 0.189842622 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 267589 C G C17orf97 CCDS32519.2 r.? - - downstream 36 0 0 28 0 0 27 3 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 55035011 T A COIL CCDS11592.1 r.? - - intronic 33 0 0 45 4 8.9 34 4 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.433294004 0.433294004 1 0.643612472 0.643612472 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000791 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 66726164 T A - - - - - - 34 0 0 55 0 0 27 3 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 27989263 T C - - - - - - 34 0 0 48 9 18.8 40 4 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.915272727 0.915272727 1 0.545434298 0.545434298 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 155544105 G A SLC33A1 CCDS3173.1 r.? - - downstream 28 0 0 68 14 20.6 72 5 6.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.414905222 1.414905222 1 0.514349666 0.514349666 1 NA NA 1 NA NA 1 5 NA 1 1 5.84E-19 1 0.0000331 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 120943913 A G - - - - - - 39 0 0 25 9 36 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 0.718503341 0.718503341 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 46798782 T G - - - - - - 6 0 0 11 1 9.1 10 4 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.352030948 0.352030948 1 1.781737194 1.781737194 1 NA NA 1 NA NA 1 5 NA 1 1 0.05364542 1 0.000000128 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 12444088 C T FRMPD4 CCDS35201.1 r.? - - intronic 32 0 0 41 10 24.4 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 154285948 C T FUNDC2 CCDS14763.1 r.3825c>u c.? p.? 3'UTR variant 28 0 0 25 0 0 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.459427617 0.459427617 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 74998435 A T TNNI3K CCDS44161.1 r.? - - intronic 27 0 0 30 3 10 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.464569961 0.464569961 1 1.129048998 1.129048998 1 NA NA 0 NA NA 1 5 NA 1 1 0.000458697 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 62861176 C G MON2 CCDS31849.1 r.? - - intronic 35 0 0 22 3 13.6 42 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.390112186 0.390112186 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000179267 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 114428811 C A GRK1 ENST00000335678 r.? - - intronic 8 0 0 15 5 33.3 5 1 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000009 1 0.024751247 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 32213366 C T - - - - - - 6 0 0 18 6 33.3 9 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 198399701 T G MOBKL3 CCDS2321.1 r.? - - intronic 35 0 0 39 4 10.3 37 4 10.8 0 0 NA 1 0 0 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 0.37213627 0.499846203 0.744501546 0.481069042 0.481069042 1 0 NA 0 NA NA 1 5 NA 1 1 0.0000447 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 23853752 G T - - - - - - 21 0 0 34 5 14.7 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.568665377 0.568665377 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 115128200 G T - - - - - - 33 0 0 35 4 11.4 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.441005803 0.441005803 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000289 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 18532455 G A - - - - - - 26 0 0 28 4 14.3 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.410191489 0.410191489 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000116 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 32158129 G C NOTCH4 CCDS34420.1 r.? - - downstream 25 0 0 18 4 22.2 10 2 20 0 0 NA 1 0 0 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.884258442 0.884258442 1 0.910915808 0.910915808 1 0 NA 0 NA NA 1 5 NA 1 1 0.00000181 1 0.001095391 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 63074081 G C - - - - - - 6 0 0 15 4 26.7 7 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000816 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 49845064 C A - - - - - - 26 0 0 44 4 9.1 52 8 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.425513875 0.526949101 0.807504699 0.83996882 0.83996882 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000723 1 2.42E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 67038855 G T TRIM55 CCDS6187.1 r.? - - upstream 31 0 0 48 4 8.3 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.388106062 0.480623905 0.807504699 0.949055679 0.949055679 1 NA NA 0 NA NA 1 5 NA 1 1 0.000102016 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 76631241 C A - - - - - - 37 0 0 35 4 11.4 49 9 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.533061338 0.533061338 1 1.003599109 1.003599109 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000289 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 5044313 A G - - - - - - 38 0 0 42 10 23.8 71 5 7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.079968005 1.079968005 1 0.381804009 0.381804009 1 NA NA 0 NA NA 1 5 NA 1 1 1.24E-14 1 0.0000309 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 129330787 G C - - - - - - 6 0 0 23 6 26.1 12 4 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.00967118 1.00967118 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-09 1 0.0000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 86987038 A T - - - - - - 32 0 0 23 6 26.1 16 3 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.74867118 0.74867118 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-09 1 0.0000667 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 10638714 G C JAG1 CCDS13112.1 r.? - - intronic 31 0 0 24 6 25 22 3 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.469790646 0.469790646 1 NA NA 1 NA NA 1 5 NA 1 1 1.95E-09 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 70618070 G A - - - - - - 37 0 0 41 12 29.3 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 157721839 C A - - - - - - 42 0 0 62 12 19.4 52 4 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.332483559 1.332483559 1 0.57398441 0.57398441 1 NA NA 1 NA NA 1 5 NA 1 1 4.19E-16 1 0.000139698 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 136683162 T A - - - - - - 25 0 0 24 0 0 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.53196882 0.53196882 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 174056132 T G - - - - - - 43 0 0 41 3 7.3 44 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.337939057 0.444171454 0.760830204 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.001155993 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 42237988 C G - - - - - - 8 0 0 3 3 100 3 1 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 3.868471954 3.868471954 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000125 1 0.014925125 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 19015993 A C SNORD3D ENST00000362793 r.? - - upstream 12 0 0 12 3 25 7 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000266 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 55420979 G T - - - - - - 30 0 0 36 4 11.1 48 12 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.540400387 0.540400387 1 1.363585746 1.363585746 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000324 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 114399974 C G RABL2A CCDS2118.1 r.1180c>g c.? p.? 3'UTR variant 28 0 0 21 3 14.3 20 0 0 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.410191489 0.410191489 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000155401 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 140322495 G T - - - - - - 26 0 0 83 5 6 60 2 3.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.480367539 0.480367539 1 0.278993318 0.278993318 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000656 1 0.036544784 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 125279521 T A OR1J2 CCDS35121.1 r.? - - downstream 31 0 0 45 5 11.1 36 2 5.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.429400387 0.429400387 1 0.249443207 0.249443207 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000323 1 0.014070883 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 20044663 C A MAP7D2 CCDS14195.1 r.? - - intronic 42 0 0 31 4 12.9 41 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.499032882 0.499032882 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000177 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 63857171 C G ARID5B CCDS31208.1 r.? - - downstream 45 0 0 35 10 28.6 18 3 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.576875278 0.576875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 38290561 A C - - - - - - 30 0 0 29 8 27.6 27 3 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 22661821 T C - - - - - - 34 0 0 53 10 18.9 59 5 8.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.109141199 1.109141199 1 0.548619154 0.548619154 1 NA NA 1 NA NA 1 5 NA 1 1 1.57E-13 1 0.0000125 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 142092930 A C LRP1B CCDS2182.1 r.? - - intronic 40 0 0 29 8 27.6 27 3 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 0.383432071 0.383432071 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 93768358 G T - - - - - - 26 0 0 46 9 19.6 47 4 8.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0.889930701 0.889930701 1 0.446096574 0.561939218 0.793852004 NA NA 0 NA NA 0 5 NA 1 1 1.82E-12 1 0.0000939 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 75422647 G T - - - - - - 42 0 0 57 15 26.3 43 4 9.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.22978186 1.22978186 1 0.507253898 0.507253898 1 NA NA 0 NA NA 1 5 NA 1 1 5.53E-22 1 0.000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 86324797 A C UBQLN1 CCDS6663.1 r.? - - upstream 19 0 0 36 7 19.4 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 73231437 T C SFXN5 CCDS1922.1 r.? - - intronic 19 0 0 35 5 14.3 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 17107741 G C - - - - - - 35 0 0 47 4 8.5 34 2 5.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 0.311439758 0.311439758 1 0.262806236 0.262806236 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000939 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 33821819 G A MMP24 CCDS46593.1 r.? - - intronic 33 0 0 47 5 10.6 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.410058027 0.410058027 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000402 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 128636055 G C INTU CCDS34061.1 r.? - - intronic 33 0 0 20 3 15 21 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.430270793 0.430270793 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0001337 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 21913059 C T CDH12 CCDS3890.1 r.? - - intronic 34 0 0 27 4 14.8 22 1 4.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.424533849 0.424533849 1 0.155445434 0.155445434 1 NA NA 1 NA NA 1 3 NA 1 1 0.00001 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 174172631 T A - - - - - - 33 0 0 25 3 12 26 1 3.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.344216634 0.344216634 1 0.131265033 0.131265033 1 NA NA 1 NA NA 1 3 NA 1 1 0.00026475 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 54830162 G A - - - - - - 30 0 0 28 4 14.3 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.666880018 0.666880018 1 1.156320713 1.156320713 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000116 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 70546925 A G - - - - - - 13 0 0 28 5 17.9 20 3 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000279 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 92149288 C T PEX1 CCDS5627.1 r.? - - intronic 26 0 0 55 5 9.1 49 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0.413182111 0.614862744 0.671990806 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000883 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 6464608 A C - - - - - - 28 0 0 36 6 16.7 30 3 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 94854142 C A - - - - - - 33 0 0 43 11 25.6 38 4 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.467706013 0.467706013 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 95552110 A T FGD6 CCDS31878.1 r.? - - intronic 17 0 0 15 1 6.7 14 4 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.259187621 0.259187621 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 0.072431031 1 0.000000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 109885835 C T KCTD10 CCDS9128.1 r.? - - downstream 25 0 0 30 9 30 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 42052217 G T - - - - - - 39 0 0 23 6 26.1 15 3 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.74867118 0.74867118 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-09 1 0.0000544 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 26190771 G A - - - - - - 29 0 0 31 1 3.2 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.123791103 0.123791103 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 1 NA 1 1 0.143917729 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 36627823 T A CAPNS1 CCDS12489.1 r.? - - upstream 32 0 0 37 8 21.6 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 3.150439412 1 2 1 1 1 0.849560588 NA 2 NA 2 NA 0.150439412 0.835589942 0.835589942 1 0.829507795 0.829507795 1 NA NA 0 NA NA 1 5 NA 1 1 1.33E-11 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 81470838 T A - - - - - - 50 0 0 45 13 28.9 26 3 11.5 0 0 NA 0 0 NA 1 1 100 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.512249443 0.512249443 1 NA NA 1 4.454342984 4.454342984 1 5 NA 1 1 7.68E-20 1 0.000298167 0.005 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 1690471 G A FAM53A CCDS33939.1 r.? - - upstream 33 0 0 33 12 36.4 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 0.476699332 0.476699332 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 190229971 A C - - - - - - 17 0 0 28 0 0 23 3 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.449064588 0.449064588 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 71182863 A T NCOA2 CCDS47872.1 r.? - - intronic 39 0 0 42 0 0 48 4 8.3 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0 NA 0 0.452710468 0.452710468 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.000102016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 146476292 G T - - - - - - 31 0 0 25 10 40 24 3 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.431792873 0.431792873 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 70164119 C A LRRC7 ENST00000310961 r.? - - intronic 34 0 0 36 4 11.1 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.515672657 0.515672657 1 1.232681514 1.232681514 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000324 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 161523129 G C FCGR3A CCDS1232.1 r.? - - upstream 28 0 0 49 4 8.2 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.379602777 0.498932318 0.760830204 0.954510022 0.954510022 1 NA NA 0 NA NA 1 5 NA 1 1 0.000110643 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 16959887 C T - - - - - - 21 0 0 29 5 17.2 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.665377176 0.665377176 1 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000336 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 105080052 G A - - - - - - 32 0 0 26 5 19.2 36 12 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.550746615 0.550746615 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000188 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 97840327 T A - - - - - - 29 0 0 22 3 13.6 26 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.390112186 0.390112186 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000179267 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 166890817 A T - - - - - - 33 0 0 27 5 18.5 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.530667311 0.530667311 1 1.267743875 1.267743875 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000023 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 85639048 G T RALYL ENST00000399361 r.? - - intronic 35 0 0 49 4 8.2 51 1 2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.45886476 0.45886476 1 0.133451889 0.133451889 1 NA NA 0 NA NA 1 3 NA 1 1 0.000110643 1 0.225579006 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 69006231 G A - - - - - - 19 0 0 41 8 19.5 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.905911424 0.905911424 1 0.725427617 0.725427617 1 NA NA 0 NA NA 1 5 NA 1 1 3.22E-11 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 62139584 C A - - - - - - 24 0 0 42 16 38.1 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.511711066 1.375190881 1.099273626 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 2.25E-26 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 20879005 T C - - - - - - 14 0 0 17 2 11.8 13 3 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.456479691 0.456479691 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 0.003234386 1 0.0000344 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 78301245 C A - - - - - - 37 0 0 35 7 20 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 112137767 G A - - - - - - 24 0 0 33 6 18.2 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 74856981 G A GATSL1 CCDS47616.1 r.? - - intronic 32 0 0 43 9 20.9 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0.948956717 0.948956717 1 0.818718418 0.818718418 1 NA NA 1 NA NA 0 5 NA 1 1 9.45E-13 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 115167396 T A - - - - - - 25 0 0 35 0 0 35 3 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0 0 1 0.451357136 0.451357136 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 131637785 G C CCBL1 CCDS43884.1 r.? - - intronic 20 0 0 41 7 17.1 22 4 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 6538582 G T - - - - - - 20 0 0 18 6 33.3 13 3 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-10 1 0.0000344 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 83549169 A G - - - - - - 23 0 0 28 2 7.1 21 4 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.274661509 0.274661509 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 0.008668191 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 1600821 G A ADARB2 CCDS7058.1 r.? - - intronic 12 0 0 30 13 43.3 13 4 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.471871152 4 4 0 0 1 0.528128848 NA 5 NA 0 NA 0.471871152 2.541048356 0.847016119 3 2.133273954 2.133273954 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 0.000000431 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 23433539 A T - - - - - - 31 0 0 41 4 9.8 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.477110251 0.477110251 1 1.499944321 1.499944321 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000546 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 90592360 C T KCNK13 CCDS9889.1 r.? - - intronic 29 0 0 27 4 14.8 31 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.424533849 0.424533849 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00001 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 53402121 A T - - - - - - 43 0 0 39 3 7.7 31 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.22087234 0.22087234 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000998458 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 51378824 G T - - - - - - 29 0 0 32 4 12.5 47 13 27.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 1.233853007 1.233853007 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000201 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 11186932 C G - - - - - - 26 0 0 44 4 9.1 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.352030948 0.352030948 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000723 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 54425627 C T CACNG7 CCDS12868.1 r.? - - intronic 7 0 0 16 10 62.5 9 5 55.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.417794971 1.208897485 2 2.476614699 1.23830735 2 NA NA 1 NA NA 1 5 NA 1 1 7.61E-20 1 3.87E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 18849709 T C - - - - - - 7 0 0 10 3 30 9 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000146 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 120003476 T A GPR156 CCDS2997.1 r.? - - intronic 17 0 0 27 3 11.1 25 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.429400387 0.429400387 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000334187 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 122362046 A G - - - - - - 38 0 0 50 5 10 35 1 2.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.386847195 0.386847195 1 0.129175947 0.129175947 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000549 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 112642748 C T - - - - - - 34 0 0 46 5 10.9 44 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.485582394 0.828056157 0.586412395 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000361 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 101697734 T C NXF2B CCDS43979.1 r.? - - intronic 40 0 0 55 6 10.9 28 2 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.421663443 0.421663443 1 0.316258352 0.316258352 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000367 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 28630651 T A - - - - - - 32 0 0 32 1 3.1 38 3 7.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.119922631 0.119922631 1 0.351893096 0.351893096 1 NA NA 1 NA NA 1 1 NA 1 1 0.14819814 1 0.000925091 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 90711594 G A - - - - - - 32 0 0 40 6 15 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 0.687031617 0.687031617 1 0.779971047 0.779971047 1 NA NA 0 NA NA 1 5 NA 1 1 5.18E-08 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 29680584 G A SPN CCDS10650.1 r.5627g>a c.? p.? 3'UTR variant 25 0 0 20 6 30 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 0.538975501 0.538975501 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-10 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 52279314 A T - - - - - - 28 0 0 38 7 18.4 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 41561886 T A - - - - - - 30 0 0 38 13 34.2 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 121731558 C G - - - - - - 20 0 0 24 5 20.8 21 3 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 34375195 G A - - - - - - 42 0 0 32 0 0 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.53196882 0.53196882 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 101093131 G T EMID2 ENST00000397927 r.? - - intronic 26 0 0 40 8 20 46 4 8.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.651677808 3.129724922 1 2 1 1 0.348322192 0.870275078 2 2 1 2 0.651677808 0.129724922 0.904029952 0.904029952 1 0.485813908 0.485813908 1 NA NA 0 NA NA 1 5 NA 1 1 2.61E-11 1 0.0000862 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 66996587 A G SGIP1 CCDS30744.1 r.? - - upstream 18 0 0 44 8 18.2 23 4 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.845517329 0.845517329 1 0.949055679 0.949055679 1 NA NA 0 NA NA 1 5 NA 1 1 5.9E-11 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 174318390 G T RABGAP1L CCDS1314.1 r.? - - intronic 40 0 0 46 4 8.7 6 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.402749288 0.52935502 0.760830204 0 0 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000862 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 98787837 A C - - - - - - 21 0 0 25 12 48 24 12 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.74603049 0.986964452 1.769091568 2.227171492 1.113585746 2 NA NA 0 NA NA 1 5 NA 1 1 1.2E-21 1 6.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 104522551 C T - - - - - - 17 0 0 28 6 21.4 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.778438594 0.778438594 1 0.71714922 0.71714922 1 NA NA 0 NA NA 1 5 NA 1 1 5.36E-09 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 9320578 A G PZP CCDS8600.1 r.? - - intronic 39 0 0 33 4 12.1 51 1 2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.549059364 0.549059364 1 0.10908686 0.10908686 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000228 1 0.225579006 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 44217691 C T KIAA1267 CCDS11503.1 r.? - - intronic 73 0 0 44 6 13.6 59 11 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.390112186 0.390112186 1 0.642507795 0.642507795 1 NA NA 1 NA NA 1 2 NA 1 1 9.37E-08 1 1.1E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 77117394 G A ATP9B CCDS12014.1 r.? - - intronic 24 0 0 8 3 37.5 10 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000687 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 20042536 G A - - - - - - 34 0 0 24 4 16.7 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.479034816 0.479034816 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000613 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 40785865 A T NSUN7 CCDS3461.2 r.? - - intronic 31 0 0 26 3 11.5 22 1 4.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.329874275 0.329874275 1 0.155445434 0.155445434 1 NA NA 1 NA NA 1 3 NA 1 1 0.000298167 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 43875996 T C AL365499.1 ENST00000504566 r.? - - intronic 17 0 0 34 4 11.8 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.550292602 0.550292602 1 1.014507795 1.014507795 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000257 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 116012384 A C - - - - - - 41 0 0 41 6 14.6 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.564796905 0.564796905 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 6.05E-08 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 146119516 A G CNTNAP2 CCDS5889.1 r.? - - intronic 36 0 0 36 4 11.1 49 10 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.460722367 0.460722367 1 1.044193052 1.044193052 1 NA NA 0 NA NA 0 5 NA 1 1 0.0000324 1 6.72E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 134611483 C A - - - - - - 28 0 0 78 5 6.4 86 9 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.596100091 7 4 5 2 2 0.403899909 1 5 NA 2 NA 0.596100091 NA 0.541732611 0.541732611 1 0.992706013 0.992706013 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000487 1 6.35E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 19603857 A T SLC24A2 CCDS6493.1 r.? - - intronic 33 0 0 24 7 29.2 19 2 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 0.362706013 0.362706013 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 0.004039874 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 97415017 G A C9orf118 ENST00000375325 r.? - - downstream 10 0 0 25 4 16 15 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.618955513 0.618955513 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000727 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 141178644 G T - - - - - - 44 0 0 27 4 14.8 32 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.424533849 0.424533849 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00001 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 123797034 G A SBNO1 CCDS9246.1 r.? - - intronic 33 0 0 44 12 27.3 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 174457113 C T - - - - - - 40 0 0 40 19 47.5 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 1.271505408 1 1 0 0 0.255498454 0.728494592 2 2 0 0 0.744501546 0.271505408 1.716162412 0.983755169 1.744501546 0.596135743 0.596135743 1 NA NA 1 NA NA 1 5 NA 1 1 2.27E-33 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 2461225 C T CNTN4 CCDS43041.1 r.? - - intronic 54 0 0 51 6 11.8 58 5 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.692479691 0.692479691 1 0.555073497 0.555073497 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000232 1 0.0000115 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 124225312 A T KALRN CCDS3027.1 r.? - - intronic 28 0 0 50 0 0 53 4 7.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 0 0 1 0.409075724 0.409075724 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.000150502 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 71537837 A G SMAP1 CCDS43478.1 r.? - - intronic 41 0 0 47 10 21.3 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.823984526 0.823984526 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 128150301 G A METTL2B ENST00000480046 r.? - - downstream 46 0 0 59 14 23.7 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.064918952 1.064918952 1 0.724270754 0.724270754 1 NA NA 1 NA NA 0 5 NA 1 1 6.58E-20 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 111710936 G T - - - - - - 27 0 0 42 7 16.7 45 4 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.743965686 0.743965686 1 0.485436526 0.485436526 1 NA NA 0 NA NA 1 5 NA 1 1 1.81E-09 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 68636595 C A - - - - - - 21 0 0 41 9 22 14 3 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 0.0000437 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 48380513 C T - - - - - - 24 0 0 52 5 9.6 48 1 2.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.481980444 0.481980444 1 0.120101868 0.120101868 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000668 1 0.213845552 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 56052091 G A - - - - - - 34 0 0 46 5 10.9 54 5 9.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.54724863 0.54724863 1 0.5318797 0.5318797 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000361 1 0.00000806 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 153416453 G C S100A7L2 ENST00000368725 r.? - - upstream 26 0 0 49 4 8.2 46 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.379602777 0.498932318 0.760830204 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000110643 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 105325613 C G - - - - - - 23 0 0 46 4 8.7 38 2 5.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.316468026 0.411482897 0.769091568 0.236080178 0.236080178 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000862 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 36297676 C T BRMS1L CCDS32066.1 r.? - - intronic 25 0 0 20 4 20 20 3 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0.518151448 0.518151448 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000284 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 34580308 G T ENSG00000237113 ENST00000425453 r.? - - intronic 37 0 0 36 4 11.1 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.429400387 0.429400387 1 1.287305122 1.287305122 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000324 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 6740626 T A - - - - - - 28 0 0 24 5 20.8 20 4 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.596642166 0.596642166 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 25649908 T C TOP2B CCDS46776.1 r.? - - intronic 35 0 0 32 4 12.5 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 1.011135857 1.011135857 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000201 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 89979337 C T GABRR2 CCDS5020.2 r.? - - intronic 45 0 0 46 5 10.9 39 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.421663443 0.421663443 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000361 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 125141097 C A - - - - - - 32 0 0 59 5 8.5 49 6 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.381932957 0.611232623 0.624856958 0.640297333 0.640297333 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000125 1 0.000000182 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 139547251 T G TBXAS1 CCDS5855.1 r.? - - intronic 34 0 0 58 4 6.9 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.310039695 0.496177071 0.624856958 0.808244174 0.808244174 1 NA NA 1 NA NA 1 5 NA 1 1 0.000213772 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 72003436 G A FAM189A2 CCDS6629.1 r.? - - intronic 28 0 0 36 4 11.1 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.540400387 0.540400387 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000324 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 161675672 C A FCRLA CCDS30926.1 r.? - - upstream 13 0 0 27 3 11.1 20 6 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.513852539 0.513852539 1 1.636302895 1.636302895 1 NA NA 0 NA NA 1 5 NA 1 1 0.000334187 1 5.7E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 244380905 G A - - - - - - 30 0 0 43 10 23.3 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.516703786 0.516703786 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 1506834 C T ADARB2 CCDS7058.1 r.? - - intronic 18 1 5.6 15 4 26.7 11 5 45.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.471871152 4 4 0 0 1 0.528128848 NA 5 NA 0 NA 0.471871152 1.566882012 1.566882012 1 3.151427432 1.050475811 3 NA NA 1 NA NA 1 5 NA 0.086275114 1 0.000000816 1 1.41E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 75803881 T A VCL CCDS7341.1 r.? - - intronic 32 0 0 29 2 6.9 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.266924565 0.266924565 1 0.659242762 0.659242762 1 NA NA 1 NA NA 1 5 NA 1 1 0.009279585 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 77316202 T A C10orf11 ENST00000354343 r.? - - intronic 37 0 0 51 1 2 79 4 5.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.137369439 0.137369439 1 0.380171492 0.380171492 1 NA NA 1 NA NA 1 1 NA 1 1 0.225579006 1 0.000696582 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 27645376 G A BDNFOS ENST00000501663 r.? - - intronic 32 0 0 44 7 15.9 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.774087041 0.774087041 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 6476284 G C DENND1C CCDS45938.1 r.? - - intronic 32 0 0 41 12 29.3 20 3 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 7794637 T A CLEC4G CCDS12185.1 r.? - - intronic 26 0 0 31 0 0 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.659242762 0.659242762 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 21482579 A C ZNF708 CCDS32980.1 r.? - - intronic 33 0 0 41 4 9.8 35 4 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.379110251 0.379110251 1 0.5077951 0.5077951 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000546 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 21480018 C A POM121L7 ENST00000329949 r.2335g>u c.? p.? 3'UTR variant 7 0 0 26 4 15.4 19 5 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000856 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 34335623 C T - - - - - - 29 0 0 31 10 32.3 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 0.511242762 0.511242762 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 88252894 A C - - - - - - 32 0 0 44 5 11.4 25 3 12 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.441005803 0.441005803 1 0.534521158 0.534521158 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000288 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 6898766 C A - - - - - - 27 0 0 27 9 33.3 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.476699332 0.476699332 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 70051927 T G - - - - - - 20 1 5 10 0 0 12 3 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 0.09538952 1 1 1 0.0000266 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 121986309 C A CADPS2 CCDS47691.1 r.? - - intronic 30 0 0 37 8 21.6 44 4 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.970559045 0.970559045 1 0.47759883 0.47759883 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 92157291 G C - - - - - - 43 0 0 36 7 19.4 21 3 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 57540232 G T DAB1 CCDS607.1 r.? - - intronic 30 0 0 51 5 9.8 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.492021704 0.492021704 1 1.109512493 1.109512493 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000606 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 148586103 C G NBPF15 CCDS932.1 r.? - - intronic 14 0 0 14 3 21.4 14 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.990670662 0.990670662 1 0 0 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000437 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 88032854 C T CTSC CCDS8282.1 r.? - - intronic 29 0 0 52 5 9.6 49 11 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 0.439700235 0.617783123 0.711738826 1.221772829 1.221772829 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000668 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 126745825 C A - - - - - - 31 0 0 33 4 12.1 32 3 9.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.468085106 0.468085106 1 0.418708241 0.418708241 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000228 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 23471933 C T AL162853.1 ENST00000379093 r.? - - intronic 22 0 0 48 6 12.5 32 8 25 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 1.113585746 1.113585746 1 0 0 1 NA NA 1 5 NA 1 1 0.00000016 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 59647512 A T - - - - - - 34 0 0 20 3 15 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.430270793 0.430270793 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 0.0001337 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 72792752 T G MIR630 CCDS10244.1 r.? - - intronic 36 0 0 65 4 6.2 49 0 0 1 0 0 0 0 NA 0 0 NA TRUE FALSE 4 4.131936932 3 3 1 1 1 0.868063068 NA 3 NA 2 NA 0.131936932 0.363845261 0.363845261 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.000331785 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 81930220 G A - - - - - - 47 0 0 47 5 10.6 45 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.410058027 0.410058027 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000402 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 9685698 G A - - - - - - 33 0 0 48 5 10.4 49 6 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.506321083 0.506321083 1 0.665429844 0.665429844 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000447 1 0.000000182 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 69175235 G T GKN2 CCDS33215.1 r.? - - intronic 34 0 0 36 5 13.9 24 2 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.537717602 0.537717602 1 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000104 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 79295420 C A ROBO1 ENST00000464233 r.? - - intronic 44 0 0 41 4 9.8 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.379110251 0.379110251 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000546 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 99396142 G C ENSG00000214802 ENST00000399013 r.? - - downstream 17 0 0 18 3 16.7 11 1 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.479034816 0.479034816 1 0.314345212 0.314345212 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000964 1 0.05364542 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 165827071 T C - - - - - - 26 0 0 26 4 15.4 19 6 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.441744681 0.441744681 1 1.091572383 1.091572383 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000856 1 4.01E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 95336367 C G - - - - - - 37 0 0 48 4 8.3 45 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0.376858409 0.560808876 0.671990806 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.000102016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 107677923 G A ABCA1 CCDS6762.1 r.? - - intronic 27 0 0 51 5 9.8 38 1 2.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.477110251 0.477110251 1 0.14571366 0.14571366 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000606 1 0.173434892 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 70373814 G A LRRC7 CCDS645.1 r.? - - intronic 40 0 0 47 7 14.9 48 5 10.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.692209242 0.692209242 1 0.56725167 0.56725167 1 NA NA 0 NA NA 1 5 NA 1 1 4.12E-09 1 0.00000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 108179982 C G VAV3 CCDS785.1 r.? - - intronic 37 0 0 41 11 26.8 54 4 7.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.304750484 1.304750484 1 0.403621381 0.403621381 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 0.000161898 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 6610835 A T PRKCQ CCDS7079.1 r.? - - intronic 34 0 0 100 3 3 85 4 4.7 2 0 0 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.266054159 0.266054159 1 0.503983391 0.503983391 1 NA NA 0 NA NA 1 2 NA 1 1 0.014102917 1 0.000916711 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 18112949 A T MRC1 CCDS7123.1 r.? - - intronic 8 0 0 8 4 50 10 6 60 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 2.519543947 1.160750688 2.170615941 3.457120201 1.498194678 2.307524017 NA NA 1 NA NA 1 5 NA 1 1 4.31E-08 1 3.23E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 79345034 G A KCNMA1 CCDS7352.1 r.? - - intronic 40 0 0 67 12 17.9 58 7 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 1.22945648 1.22945648 1 0.901975501 0.901975501 1 NA NA 1 NA NA 1 5 NA 1 1 1.14E-15 1 1.88E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 133604964 C T ENSG00000189275 ENST00000341866 r.3154g>a c.? p.? 3'UTR variant 31 0 0 37 12 32.4 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 21158398 G A NELL1 CCDS7855.1 r.? - - intronic 35 0 0 53 9 17 51 5 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.827640232 0.827640232 1 0.534525612 0.534525612 1 NA NA 1 NA NA 1 5 NA 1 1 7.1E-12 1 0.00000606 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 116986627 C T - - - - - - 34 0 0 39 8 20.5 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 20877783 C A - - - - - - 130 0 0 139 8 5.8 125 7 5.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.224371373 0.224371373 1 0.249443207 0.249443207 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000615 1 0.00000372 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 32458996 G C CHRNA7 CCDS10027.1 r.? - - intronic 30 0 0 17 3 17.6 20 3 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.504851064 0.504851064 1 0.518151448 0.518151448 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000807 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 15232227 C A - - - - - - 38 0 0 49 11 22.4 42 4 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.090537718 1.090537718 1 0.518162584 0.518162584 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 24816582 C T - - - - - - 47 0 0 54 8 14.8 57 5 8.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.77328287 0.77328287 1 0.549306582 0.549306582 1 NA NA 1 NA NA 1 5 NA 1 1 3.31E-10 1 0.0000105 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 48452428 A G - - - - - - 21 0 0 38 2 5.3 35 4 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.205029014 0.205029014 1 0.5077951 0.5077951 1 NA NA 1 NA NA 1 2 NA 1 1 0.015598339 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 26892391 A G - - - - - - 26 0 0 54 11 20.4 36 4 11.1 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA 3 NA 2 NA 1 NA 1 NA NA NA NA NA NA NA NA 1 0.605432071 0.605432071 1 NA NA 1 NA NA 1 NA NA 1 1 3.84E-15 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 88855378 C A EIF2AK3 CCDS33241.1 r.? - - downstream 41 0 0 34 8 23.5 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 42518748 A G - - - - - - 25 0 0 32 0 0 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 49543874 T A - - - - - - 26 0 0 31 2 6.5 24 3 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.251450677 0.251450677 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 2 NA 1 1 0.010558179 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 49905964 G A - - - - - - 37 0 0 42 13 31 29 4 13.8 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 2.72E-20 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 4798202 T A ITPR1 CCDS46740.1 r.? - - intronic 22 0 0 64 13 20.3 67 4 6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.191299807 1.191299807 1 0.387260579 0.387260579 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 0.000372648 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 27788281 G T - - - - - - 18 0 0 29 14 48.3 19 4 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.385471954 1.385471954 1 0.72886637 0.72886637 1 NA NA 1 NA NA 1 5 NA 1 1 4.41E-25 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 121571402 A G - - - - - - 41 0 0 32 0 0 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.417975501 0.417975501 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 53285740 C A - - - - - - 28 0 0 49 12 24.5 41 4 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.142556673 1.142556673 1 0.534525612 0.534525612 1 NA NA 0 NA NA 1 5 NA 1 1 1.9E-17 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 114522656 T C - - - - - - 33 0 0 32 3 9.4 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.363636364 0.363636364 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 0.000556213 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 64944099 C T - - - - - - 19 0 0 31 9 29 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 134452743 G C RAPGEF1 CCDS48048.1 r.5588c>g c.? p.? 3'UTR variant 32 0 0 28 9 32.1 19 3 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.241779497 1.241779497 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 20258591 A G RPS6KA3 CCDS14197.1 r.? - - intronic 27 0 0 43 16 37.2 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.439071567 1.439071567 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 3.56E-26 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 20735239 T A - - - - - - 36 0 0 44 12 27.3 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.659242762 0.659242762 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 52075428 T C OSBPL9 ENST00000371714 r.? - - intronic 12 0 0 31 4 12.9 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.647661222 0.647661222 1 1.589919964 1.589919964 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000177 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 146004852 G T - - - - - - 9 0 0 12 3 25 12 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.157325539 1.157325539 1 0 0 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000266 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 38902573 G A - - - - - - 17 0 0 27 5 18.5 17 0 0 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.900667311 0.900667311 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000023 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 2161641 A T IGF2 CCDS7728.1 r.? - - upstream 22 0 0 25 3 12 12 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.464216634 0.464216634 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00026475 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 42570246 T A GANC CCDS10084.1 r.? - - intronic 30 0 0 24 3 12.5 34 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.358558994 0.358558994 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000233853 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 27251254 G T NSMCE1 CCDS10628.2 r.? - - intronic 35 0 0 26 4 15.4 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000856 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 74478689 C G RHBDF2 CCDS32743.1 r.? - - intronic 26 0 0 44 4 9.1 33 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.352030948 0.352030948 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000723 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 46837578 G A DYM CCDS11937.1 r.? - - intronic 23 0 0 37 5 13.5 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.657243714 0.657243714 1 1.167229399 1.167229399 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000119 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 123466783 C A MYLK CCDS3023.1 r.? - - intronic 24 0 0 34 5 14.7 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.009665377 1.009665377 1 1.396311804 1.396311804 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000771 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 125269182 G A OSBPL11 CCDS3033.1 r.? - - intronic 20 0 0 45 6 13.3 49 6 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 0.91350677 0.91350677 1 0.665429844 0.665429844 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000108 1 0.000000182 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 182384181 G A - - - - - - 21 0 0 51 6 11.8 47 12 25.5 2 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.574479691 0.574479691 1 1.390857461 1.390857461 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000232 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 14709985 T C DGKB CCDS47547.1 r.? - - intronic 33 0 0 30 4 13.3 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.38150677 0.38150677 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000154 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 140398180 A G ADCK2 CCDS5861.1 r.? - - downstream 23 0 0 53 5 9.4 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.422372918 0.675951372 0.624856958 0.876472579 0.876472579 1 NA NA 1 NA NA 0 5 NA 1 1 0.00000734 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 141007083 G T - - - - - - 46 0 0 37 4 10.8 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 3.665370368 2 2 1 1 0.607643215 0.334629632 3 3 1 1 0.392356785 0.665370368 0.568169504 0.568169504 1 1.413653784 1.413653784 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000362 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 1381022 G A - - - - - - 28 0 0 22 4 18.2 18 6 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000425 1 2.75E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 20677764 G T - - - - - - 23 0 0 38 5 13.2 30 1 3.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.378638298 0.378638298 1 0.113993318 0.113993318 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000137 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 145917886 T C - - - - - - 35 0 0 71 5 7 53 1 1.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 4 4 1 1 1 1 NA NA NA NA NA NA 0.480793037 0.480793037 1 0.141632517 0.141632517 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000309 1 0.233303855 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 52101239 T A - - - - - - 25 0 0 18 4 22.2 14 2 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000181 1 0.002185852 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 92557131 G A BTBD8 CCDS737.1 r.? - - intronic 25 0 0 54 9 16.7 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.813034816 0.813034816 1 0.698155902 0.698155902 1 NA NA 1 NA NA 1 5 NA 1 1 8.48E-12 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 158631403 C A SPTA1 CCDS41423.1 r.? - - intronic 44 0 0 45 0 0 51 4 7.8 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0 NA 0 0.425438753 0.425438753 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.000129466 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 229341882 C A - - - - - - 16 0 0 46 14 30.4 19 4 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.286262123 1.286262123 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-21 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 118500399 C G HSPA12A CCDS41569.1 r.? - - intronic 22 0 0 24 7 29.2 17 3 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 0.607964365 0.607964365 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 0.0000807 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 1975243 G A MRPL23 CCDS31336.1 r.? - - intronic 22 0 0 37 8 21.6 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 43198571 C A - - - - - - 29 0 0 43 12 27.9 39 4 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.458797327 0.458797327 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 72610211 G A - - - - - - 31 0 0 31 8 25.8 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.740065764 0.740065764 1 0.53196882 0.53196882 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 23513751 C A - - - - - - 33 0 0 62 5 8.1 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.313346228 0.313346228 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 2 NA 1 1 0.000016 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 77855200 T C VAT1L CCDS32492.1 r.? - - intronic 29 0 0 24 1 4.2 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.120475822 0.120475822 1 0.576875278 0.576875278 1 NA NA 1 NA NA 1 1 NA 1 1 0.113346489 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 4899148 C A ARRDC5 CCDS45929.1 r.? - - intronic 27 0 0 37 8 21.6 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 54732125 G T PPAP2A CCDS34159.1 r.? - - intronic 30 0 0 24 9 37.5 17 3 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.607964365 0.607964365 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 0.0000807 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 74531190 T C GTF2IRD2B CCDS34659.1 r.? - - intronic 28 0 0 29 0 0 38 4 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0 0 1 0.551060474 0.551060474 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 145562293 T C - - - - - - 45 0 0 58 4 6.9 34 4 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.286394985 1.014937206 0.282180004 0.60399402 0.60399402 1 NA NA 1 NA NA 0 5 NA 1 1 0.000213772 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 234059 G A - - - - - - 24 0 0 22 9 40.9 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.173205029 1.173205029 1 0.53196882 0.53196882 1 NA NA 1 NA NA 1 5 NA 1 1 9.16E-16 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 109839253 A G - - - - - - 53 0 0 49 11 22.4 61 6 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.997894094 0.997894094 1 0.534525612 0.534525612 1 NA NA 0 NA NA 1 5 NA 1 1 1.19E-15 1 0.000000685 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 130312977 C G - - - - - - 37 0 0 47 10 21.3 58 4 6.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.249984526 1.249984526 1 0.445349666 0.445349666 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 0.000213772 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 134565005 T A ST3GAL1 CCDS6373.1 r.? - - intronic 41 0 0 101 12 11.9 74 4 5.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.596100091 7 4 5 2 2 0.403899909 1 5 NA 2 NA 0.596100091 NA 1.007284073 1.007284073 1 0.510534521 0.510534521 1 NA NA 0 NA NA 1 5 NA 1 1 1.93E-13 1 0.00054411 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 140203099 T C EXD3 CCDS48066.1 r.? - - intronic 15 0 0 28 18 64.3 18 6 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.487427466 1.243713733 2 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 4.77E-35 1 2.75E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 30132806 C T - - - - - - 25 0 0 33 8 24.2 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 31997470 C A C4B CCDS47405.1 r.3888c>a c.3804C>A p.A1268A silent 25 0 0 32 4 12.5 27 2 7.4 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.497893267 0.497893267 1 0.337038849 0.337038849 1 NA NA 1 NA NA 0 5 NA 1 1 0.0000201 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 71940376 G C NEGR1 CCDS661.1 r.? - - intronic 29 0 0 41 4 9.8 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.455278562 0.455278562 1 0.976327394 0.976327394 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000546 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 5776089 C A C10orf18 CCDS41485.1 r.? - - intronic 47 0 0 86 45 52.3 84 49 58.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 5.161210832 1.032242166 5 6.251538662 1.04192311 6 NA NA 1 NA NA 0 5 NA 1 1 1.41E-79 1 7.89E-90 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 15508080 A T - - - - - - 18 0 0 26 5 19.2 21 1 4.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0.967504876 0.967504876 1 0.276569616 0.276569616 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000188 1 0.099912572 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 54874011 C A - - - - - - 40 0 0 33 4 12.1 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.468085106 0.468085106 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000228 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 103323705 C T - - - - - - 25 0 0 21 4 19 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.545009671 0.545009671 1 0.718503341 0.718503341 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000349 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 41116023 G A - - - - - - 44 0 0 45 5 11.1 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.429400387 0.429400387 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000323 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 48373278 G A OR4C45 ENST00000415304 r.? - - intronic 34 0 0 24 4 16.7 23 4 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.775055679 0.775055679 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000613 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 12506654 T G MANSC1 CCDS8648.1 r.? - - upstream 32 0 0 49 5 10.2 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.462843431 0.691627893 0.669208739 1.29813363 1.29813363 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000496 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 41924763 T G PDZRN4 CCDS8739.1 r.? - - intronic 8 0 0 18 4 22.2 16 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000181 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 97612833 G A - - - - - - 37 0 0 44 5 11.4 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.441005803 0.441005803 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000288 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 54998211 A G CGRRF1 CCDS9719.1 r.? - - intronic 41 0 0 47 5 10.6 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.420581031 0.420581031 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000402 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 77481153 G C - - - - - - 33 0 0 42 4 9.5 35 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.367504836 0.367504836 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000601 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 34695220 A C KIAA1328 CCDS45855.1 r.? - - intronic 30 0 0 54 4 7.4 53 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.386641435 1.084815061 0.356412304 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000161898 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 31762228 C T TSHZ3 CCDS12421.2 r.? - - downstream 34 0 0 39 5 12.8 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.49516441 0.49516441 1 0.726057906 0.726057906 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000156 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 36741341 C A - - - - - - 24 0 0 32 4 12.5 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 3.150439412 1 2 1 1 1 0.849560588 NA 2 NA 2 NA 0.150439412 0.483558994 0.483558994 1 1.361962122 1.361962122 1 NA NA 0 NA NA 0 5 NA 1 1 0.0000201 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 19398466 C T - - - - - - 34 0 0 52 5 9.6 45 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.563373308 0.563373308 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000668 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 241419431 A G ANKMY1 CCDS2536.1 r.? - - intronic 20 0 0 52 5 9.6 27 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.371373308 0.371373308 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000668 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 1583430 T C - - - - - - 37 0 0 62 5 8.1 54 9 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.475346228 0.475346228 1 1.077875278 1.077875278 1 NA NA 1 NA NA 1 5 NA 1 1 0.000016 1 8.48E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 193041311 G A ATP13A5 CCDS33914.1 r.? - - intronic 43 0 0 50 5 10 42 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.486847195 0.486847195 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000549 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 89969 A C - - - - - - 25 0 0 23 3 13 30 1 3.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.372901354 0.372901354 1 0.113993318 0.113993318 1 NA NA 1 NA NA 1 3 NA 1 1 0.000205387 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 145899721 G T GPR151 CCDS34266.1 r.? - - upstream 26 0 0 31 4 12.9 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.499032882 0.499032882 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000177 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 166547159 G T - - - - - - 35 0 0 30 4 13.3 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.38150677 0.38150677 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000154 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 29435867 G A OR2H1 CCDS4660.1 r.? - - downstream 30 0 0 52 5 9.6 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.467373308 0.467373308 1 0.725427617 0.725427617 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000668 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 145562308 A T - - - - - - 43 0 0 53 4 7.5 48 5 10.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.311298897 1.103192615 0.282180004 0.532333713 0.532333713 1 NA NA 0 NA NA 1 5 NA 1 1 0.000150502 1 0.00000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 114337123 A T CSMD3 CCDS6315.1 r.? - - intronic 30 0 0 49 4 8.2 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.365300517 0.622941329 0.586412395 0.796334076 0.796334076 1 NA NA 0 NA NA 1 5 NA 1 1 0.000110643 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 120345561 C T - - - - - - 23 0 0 51 5 9.8 45 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.575110251 0.575110251 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000606 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 135151752 T G - - - - - - 27 0 0 70 4 5.7 69 8 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.596100091 7 4 5 2 2 0.403899909 1 5 NA 2 NA 0.596100091 NA 0.482480607 0.482480607 1 1.096703786 1.096703786 1 NA NA 0 NA NA 1 5 NA 1 1 0.000440508 1 2.49E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 9645843 T G PTPRD CCDS43786.1 r.? - - intronic 36 0 0 22 3 13.6 27 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.390112186 0.390112186 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000179267 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 118040336 C G Dec-01 CCDS6812.1 r.? - - intronic 27 0 0 54 5 9.3 55 9 16.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.545767892 0.545767892 1 1.058512249 1.058512249 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000806 1 1.01E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 118234873 C A - - - - - - 32 0 0 56 5 8.9 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.522294004 0.522294004 1 1.019786192 1.019786192 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000965 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 40678824 C T - - - - - - 28 0 0 45 5 11.1 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.429400387 0.429400387 1 1.318485523 1.318485523 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000323 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 90004091 G C - - - - - - 41 0 0 41 7 17.1 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 31009116 C G - - - - - - 47 0 0 42 4 9.5 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.367504836 0.367504836 1 0.543429844 0.543429844 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000601 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 211176971 C G KCNH1 CCDS31015.1 r.? - - intronic 42 0 0 38 4 10.5 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.444268167 1.225048781 0.36265345 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000403 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 219781249 T C - - - - - - 10 0 0 15 4 26.7 19 3 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.129710483 1.129710483 1 0.703786192 0.703786192 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000816 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 242861634 G T - - - - - - 26 0 0 34 4 11.8 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.456479691 0.456479691 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000257 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 22632510 C T SPAG6 CCDS7139.1 r.? - - upstream 54 0 0 52 5 9.6 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.467373308 0.467373308 1 0.789175338 0.789175338 1 NA NA 1 NA NA 0 5 NA 1 1 0.00000668 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 8462906 T A STK33 CCDS7789.1 r.? - - intronic 26 0 0 49 4 8.2 50 3 6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.3992147 0.3992147 1 0.327260579 0.327260579 1 NA NA 1 NA NA 1 4 NA 1 1 0.000110643 1 0.002055544 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 56226000 C A DNAJC14 CCDS8894.1 r.? - - upstream 25 0 0 24 4 16.7 24 2 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.479034816 0.479034816 1 0.286710468 0.286710468 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000613 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 68511414 T G - - - - - - 34 0 0 22 4 18.2 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 1.115752784 1.115752784 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000425 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 5292714 C A - - - - - - 30 0 0 28 4 14.3 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000116 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 13189938 C A SHISA9 CCDS45417.1 r.? - - intronic 23 0 0 35 4 11.4 46 5 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.393904011 3.160996228 1 2 1 1 0.606095989 0.839003772 2 2 1 2 0.393904011 0.160996228 0.48591086 0.48591086 1 0.612071974 0.612071974 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000289 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 20893457 C A DCUN1D3 CCDS10592.1 r.? - - intronic 26 0 0 31 5 16.1 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.622823985 0.622823985 1 1.300668151 1.300668151 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000476 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 56237886 T C NLRP9 CCDS12934.1 r.? - - intronic 31 0 0 26 4 15.4 39 2 5.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 0.227171492 0.227171492 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000856 1 0.016387522 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 41938845 C A - - - - - - 23 0 0 32 4 12.5 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000201 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 57931131 C T - - - - - - 17 0 0 29 6 20.7 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.007773694 1.007773694 1 1.445400891 1.445400891 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 44819700 G T - - - - - - 33 0 0 67 5 7.5 38 2 5.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.386997292 1.327643181 0.291491944 0.183080178 0.183080178 1 NA NA 1 NA NA 0 3 NA 1 1 0.0000233 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 19804026 A G GNB1L CCDS13768.1 r.? - - intronic 29 0 0 29 5 17.2 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.665377176 0.665377176 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000336 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 36641283 T A - - - - - - 35 0 0 46 4 8.7 31 3 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.33655706 0.33655706 1 0.432071269 0.432071269 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000862 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 68784860 G A FAM19A4 CCDS2907.1 r.? - - intronic 37 0 0 44 5 11.4 38 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.441005803 0.441005803 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000288 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 137138499 C A - - - - - - 34 0 0 36 4 11.1 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 0.762400387 0.762400387 1 0.862565656 0.862565656 1 NA NA 1 NA NA 0 5 NA 1 1 0.0000324 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 153870394 A G ENSG00000114790 CCDS46938.1 r.? - - intronic 30 0 0 70 5 7.1 57 4 7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.487661509 0.487661509 1 0.521804009 0.521804009 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000289 1 0.000199821 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 157469945 A G - - - - - - 31 0 0 46 5 10.9 48 9 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.748663443 0.748663443 1 1.401416481 1.401416481 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000361 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 154708286 G T SFRP2 CCDS34082.1 r.? - - intronic 25 0 0 17 4 23.5 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.674090909 0.674090909 1 0.835951002 0.835951002 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000141 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 96124154 G C ENSG00000197851 ENST00000356686 r.? - - intronic 31 0 0 36 4 11.1 43 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0.503991366 0.503991366 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000324 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 71428302 T A - - - - - - 39 0 0 50 7 14 48 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.654636731 0.654636731 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 6.46E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 66013672 C G - - - - - - 15 0 0 16 3 18.8 17 2 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 0.525612472 0.525612472 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000667 1 0.003234386 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 84669501 C A - - - - - - 23 0 0 31 4 12.9 21 7 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.499032882 0.499032882 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000177 1 8.54E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 21166075 G A - - - - - - 35 0 0 42 5 11.9 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.460348162 0.460348162 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000228 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 49139737 A G PPP1R3F CCDS35254.1 r.? - - intronic 27 0 0 28 4 14.3 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 1.723830735 1.723830735 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000116 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 11657730 C T - - - - - - 23 0 0 24 4 16.7 25 5 20 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.479034816 0.479034816 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000613 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 97533280 T G - - - - - - 27 0 0 51 4 7.8 42 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.379740812 0.379740812 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000129466 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 145256292 G T NOTCH2NL CCDS909.1 r.? - - intronic 14 0 0 19 6 31.6 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.462859482 1.462859482 1 1.309042316 1.309042316 1 NA NA 0 NA NA 1 5 NA 1 1 4.01E-10 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 173623919 G C ANKRD45 CCDS1309.1 r.? - - intronic 26 0 0 45 4 8.9 54 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.412007892 0.541524101 0.760830204 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000791 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 192383011 G A - - - - - - 27 0 0 22 4 18.2 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.770064824 0.770064824 1 0.855233853 0.855233853 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000425 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 231126709 C G ARV1 CCDS1589.1 r.? - - intronic 40 0 0 40 4 10 29 0 0 124 0 0 81 3 3.7 30 0 0 TRUE TRUE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.42311254 1.166713125 0.36265345 0 0 1 0.15655164 0.431683856 0.36265345 0 0 1 3 3 1 1 0.0000495 0.007979008 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9776b 10 96581519 T G CYP2C19 CCDS7436.1 r.? - - intronic 32 0 0 19 3 15.8 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.453218569 0.453218569 1 1.001759465 1.001759465 1 NA NA 1 NA NA 1 5 NA 1 1 0.000114071 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 25520713 T A - - - - - - 12 0 0 9 3 33.3 15 3 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.621201161 1.621201161 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000103 1 0.0000544 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 132279591 C A - - - - - - 46 0 0 58 5 8.6 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.312830463 0.312830463 1 0.797327394 0.797327394 1 NA NA 0 NA NA 1 2 NA 1 1 0.0000115 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 19118447 A T - - - - - - 25 0 0 53 4 7.5 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.365135397 0.365135397 1 0.867240535 0.867240535 1 NA NA 1 NA NA 1 5 NA 1 1 0.000150502 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 98781164 G C - - - - - - 47 0 0 40 4 10 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.386847195 0.386847195 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000495 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 88705734 C T - - - - - - 30 0 0 26 4 15.4 30 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.441744681 0.441744681 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000856 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 34558429 G T ENSG00000237113 ENST00000425453 r.? - - intronic 23 0 0 28 4 14.3 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000116 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 76296653 G T - - - - - - 28 0 0 34 5 14.7 30 1 3.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.568665377 0.568665377 1 0.146993318 0.146993318 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000771 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 5268335 T A - - - - - - 45 0 0 54 4 7.4 53 2 3.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.360266925 0.360266925 1 0.207265033 0.207265033 1 NA NA 1 NA NA 1 3 NA 1 1 0.000161898 1 0.029108399 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 15761463 G T ENSG00000186529 CCDS12332.1 r.? - - intronic 30 0 0 34 4 11.8 29 3 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.456479691 0.456479691 1 0.458797327 0.458797327 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000257 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 30627079 C A - - - - - - 32 0 0 30 4 13.3 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.51450677 0.51450677 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000154 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 22011121 G A - - - - - - 37 0 0 50 5 10 47 7 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.586847195 0.586847195 1 0.961697105 0.961697105 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000549 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 36140435 A G - - - - - - 40 0 0 27 4 14.8 16 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.275018006 1 1 0 0 1 0.724981994 NA 2 NA 0 NA 0.275018006 0.424533849 0.424533849 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00001 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 208972965 C T - - - - - - 35 0 0 22 4 18.2 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000425 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 11948680 A G - - - - - - 47 0 0 50 5 10 37 1 2.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 0.366399715 0.460575877 0.795525197 0.120267261 0.120267261 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000549 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 24122428 A T MMP11 CCDS13816.1 r.? - - intronic 18 1 5.6 39 11 28.2 22 4 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 0.086275114 1 7.2E-17 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 40616537 T C TNRC6B CCDS46713.1 r.? - - intronic 31 0 0 51 5 9.8 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.379110251 0.379110251 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000606 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 6463670 T A - - - - - - 35 0 0 52 4 7.7 57 6 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.45187234 0.45187234 1 0.677706013 0.677706013 1 NA NA 1 NA NA 1 5 NA 1 1 0.000139698 1 0.000000456 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 49661751 A T BSN CCDS2800.1 r.? - - intronic 10 0 0 16 4 25 6 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000108 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 1121373 A T - - - - - - 35 0 0 19 3 15.8 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.453218569 0.453218569 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.000114071 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 163123354 T C - - - - - - 37 0 0 28 4 14.3 28 1 3.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.410191489 0.410191489 1 0.124356347 0.124356347 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000116 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 37764307 A T - - - - - - 24 0 0 42 4 9.5 38 2 5.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.378398883 0.378398883 1 0.241392689 0.241392689 1 NA NA 1 NA NA 0 3 NA 1 1 0.0000601 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 141881961 G C - - - - - - 25 0 0 48 4 8.3 48 9 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.404083172 0.404083172 1 1.025416481 1.025416481 1 NA NA 1 NA NA 1 5 NA 1 1 0.000102016 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 115415485 T C - - - - - - 27 0 0 51 5 9.8 47 7 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.436578666 0.744490857 0.586412395 0.812697105 0.812697105 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000606 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 126775845 G T - - - - - - 16 0 0 40 12 30 49 11 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.760541586 0.880270793 2 1.445772829 1.445772829 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 139975964 A G - - - - - - 26 0 0 65 5 7.7 66 6 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.616471675 0.616471675 1 0.769345212 0.769345212 1 NA NA 1 NA NA 0 5 NA 1 1 0.0000201 1 0.0000011 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 80446764 C G GNAQ CCDS6658.1 r.? - - intronic 43 0 0 41 4 9.8 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.379110251 0.379110251 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000546 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 139073035 G A - - - - - - 22 0 0 24 4 16.7 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000613 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 64208493 G A ZC4H2 ENST00000337990 r.? - - intronic 29 0 0 43 5 11.6 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.448742747 0.448742747 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000257 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 31648401 G T NKAIN1 CCDS339.1 r.? - - downstream 18 0 0 33 5 15.2 20 8 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.588007737 0.588007737 1 1.781737194 1.781737194 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000066 1 4.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 57754391 G A DAB1 CCDS607.1 r.? - - intronic 35 0 0 42 5 11.9 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.597454926 0.597454926 1 0.772083436 0.772083436 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000228 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 77323378 C T - - - - - - 22 0 0 48 5 10.4 51 10 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.48315276 0.621636087 0.777227657 1.069051225 1.069051225 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000447 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 194355133 C A - - - - - - 47 0 0 42 4 9.5 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.401956913 1.108377469 0.36265345 0.890868597 0.890868597 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000601 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 236108950 C T - - - - - - 25 0 0 46 5 10.9 36 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.421663443 0.421663443 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000361 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 15038063 C G - - - - - - 31 0 0 43 4 9.3 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0.468635174 0.468635174 1 0.962231789 0.962231789 1 NA NA 1 NA NA 1 5 NA 1 1 0.000066 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 26935294 G T - - - - - - 30 0 0 44 5 11.4 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.555005803 0.555005803 1 1.08511609 1.08511609 1 NA NA 1 NA NA 0 5 NA 1 1 0.00000288 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 32432877 G A - - - - - - 12 0 0 29 9 31 23 3 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.509226306 1.509226306 1 0.674952592 0.674952592 1 NA NA 1 NA NA 0 5 NA 1 1 1.79E-14 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 84599408 A G NRG3 CCDS31233.1 r.? - - intronic 52 0 0 63 5 7.9 49 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.542609284 0.542609284 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000173 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 114129233 T G ACSL5 CCDS7573.1 r.? - - upstream 15 0 0 15 4 26.7 11 4 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000816 1 0.000000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 57334431 C G UBE2L6 CCDS7961.1 r.? - - intronic 12 0 0 12 6 50 8 2 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.934235977 1.934235977 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.41E-11 1 0.000686131 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 57684783 C T OR5AZ1P ENST00000319748 r.840g>a c.840G>A p.K280K silent 35 0 0 42 6 14.3 40 5 12.5 246 0 0 106 22 20.8 10 1 10 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.556792873 0.556792873 1 0.804642166 0.804642166 1 0.445434298 0.445434298 1 5 5 1 1 7.02E-08 4.91E-29 0.00000178 0.04888987 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 64039023 G A PLCB3 CCDS8064.1 r.? - - downstream 26 0 0 24 5 20.8 17 4 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 76421579 G C - - - - - - 31 0 0 40 4 10 34 0 0 205 0 0 196 8 4.1 1 0 0 TRUE TRUE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 0.513236599 0.513236599 1 0 0 1 0.210427006 0.797392046 0.263894037 0 0 1 3 5 1 1 0.0000495 0.00000794 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 84817674 A G DLG2 CCDS44690.1 r.? - - intronic 36 0 0 57 5 8.8 57 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.440393433 0.440393433 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000105 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 16193409 C G DERA CCDS44838.1 r.? - - downstream 30 0 0 47 4 8.5 33 0 0 110 0 0 80 8 10 300 275 91.7 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.413820116 0.413820116 1 0 0 1 0.486847195 0.486847195 1 5.001632517 2.500816258 2 3 4 1 1 0.0000939 8.22E-09 1 0 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9776b 12 58808516 G T - - - - - - 12 0 0 11 5 45.5 8 3 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 1.41E-09 1 0.00000687 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 118064787 G C KSR2 ENST00000425217 r.? - - intronic 37 0 0 40 5 12.5 49 9 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000178 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 61600441 G T - - - - - - 33 0 0 32 4 12.5 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.495968197 0.495968197 1 0.855233853 0.855233853 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000201 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 3978513 G A - - - - - - 23 0 0 38 5 13.2 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.510638298 0.510638298 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000137 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 19139112 C G - - - - - - 38 0 0 34 4 11.8 47 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.456479691 0.456479691 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000257 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 21745067 A G OTOA CCDS10600.2 r.? - - intronic 17 0 0 25 4 16 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.618955513 0.618955513 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000727 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 29583354 C G ENSG00000205534 ENST00000447140 r.? - - intronic 10 0 0 27 5 18.5 14 6 42.9 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.715667311 0.715667311 1 1.91091314 1.91091314 1 NA NA 1 0 0 1 5 NA 1 1 0.00000023 1 4.53E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 57037036 A G PPM1E CCDS11613.1 r.? - - intronic 18 0 0 42 15 35.7 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.738044487 0.869022244 2 0.889057906 0.889057906 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 1426533 C T - - - - - - 34 0 0 45 5 11.1 48 7 14.6 2 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.540400387 0.540400387 1 0.796334076 0.796334076 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000323 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 1969054 A T - - - - - - 32 0 0 44 4 9.1 48 6 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.443030948 0.443030948 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000723 1 0.00000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 5854820 G C - - - - - - 34 0 0 43 4 9.3 58 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.452767892 0.452767892 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000066 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 32066612 A G - - - - - - 37 0 0 51 5 9.8 53 5 9.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.512038657 0.512038657 1 0.586759304 0.586759304 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000606 1 0.00000734 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 49609045 G A - - - - - - 37 0 0 65 6 9.2 56 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.44789942 0.44789942 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000001 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 54429373 A C WDR7 CCDS11962.1 r.? - - intronic 39 0 0 40 4 10 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.486847195 0.486847195 1 0.889057906 0.889057906 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000495 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 56919178 T A - - - - - - 39 0 0 48 4 8.3 30 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.404083172 0.404083172 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000102016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 18091087 G C KCNN1 ENST00000222249 r.? - - intronic 14 0 0 31 6 19.4 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-08 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 21159438 C A - - - - - - 24 0 0 26 5 19.2 30 3 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.742746615 0.742746615 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000188 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 57224694 C T - - - - - - 29 0 0 23 5 21.7 41 4 9.8 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.839458414 0.839458414 1 0.436525612 0.436525612 1 NA NA 1 NA NA 1 5 NA 1 1 9.75E-08 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 194450264 A T - - - - - - 44 0 0 43 4 9.3 41 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 0.336006535 0.451317445 0.744501546 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000066 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 241379571 C G GPC1 CCDS2534.1 r.? - - intronic 29 0 0 35 4 11.4 19 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.441005803 0.441005803 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000289 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 30059464 G T REM1 CCDS13181.1 r.? - - upstream 26 0 0 22 4 18.2 9 3 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000425 1 0.0000103 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 46101815 T C - - - - - - 33 0 0 44 5 11.4 36 12 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.441005803 0.441005803 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000288 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 55178137 T A - - - - - - 27 0 0 51 4 7.8 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.379740812 0.379740812 1 1.238135857 1.238135857 1 NA NA 1 NA NA 1 5 NA 1 1 0.000129466 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 22639096 C T NCAM2 CCDS42910.1 r.? - - intronic 37 0 0 21 4 19 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.545009671 0.545009671 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000349 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 42948182 G T - - - - - - 31 0 0 55 7 12.7 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.655315415 0.655315415 1 0.721957684 0.721957684 1 NA NA 1 NA NA 0 5 NA 1 1 1.28E-08 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 23830885 C A - - - - - - 10 0 0 14 6 42.9 15 3 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.659574468 1.659574468 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 4.53E-11 1 0.0000544 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 97862688 C T - - - - - - 28 0 0 39 5 12.8 42 0 0 197 1 0.5 121 13 10.7 391 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.49516441 0.49516441 1 0 0 1 0.413926499 0.413926499 1 0 0 1 3 3 1 0.627482305 0.00000156 7.25E-14 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9776b 3 112139155 G A - - - - - - 12 0 0 22 5 22.7 23 2 8.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.38752784 0.38752784 1 NA NA 1 NA NA 1 5 NA 1 1 7.67E-08 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 181444989 C T - - - - - - 18 0 0 29 5 17.2 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.837377176 0.837377176 1 1.259953229 1.259953229 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000336 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 183661061 G A ABCC5 CCDS43176.1 r.? - - intronic 26 0 0 44 5 11.4 48 13 27.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.555005803 0.555005803 1 1.478126949 1.478126949 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000288 1 2E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 185868112 G C DGKG CCDS3274.1 r.? - - intronic 35 0 0 44 4 9.1 47 1 2.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.443030948 0.443030948 1 0.114541203 0.114541203 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000723 1 0.209895027 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 191338645 C T - - - - - - 33 0 0 48 5 10.4 39 4 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.506321083 0.506321083 1 0.561797327 0.561797327 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000447 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 197884996 C T FAM157A ENST00000431569 r.? - - intronic 11 0 0 13 4 30.8 13 1 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.499489362 1.499489362 1 0.41998441 0.41998441 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000431 1 0.063085307 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 6588239 G A MAN2B2 CCDS33951.1 r.? - - intronic 27 0 0 20 4 20 13 2 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0.53196882 0.53196882 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000284 1 0.001879825 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 117843420 T A - - - - - - 32 0 0 22 4 18.2 25 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000425 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 50638723 A G - - - - - - 44 0 0 30 4 13.3 33 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.38150677 0.38150677 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000154 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 170123017 T A KCNIP1 CCDS4374.1 r.? - - intronic 14 0 0 14 3 21.4 12 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.613852998 0.613852998 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000437 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 44641859 T C - - - - - - 42 0 0 50 5 10 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.466349663 0.586585145 0.795024673 0.829060134 0.829060134 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000549 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 51332386 G A - - - - - - 36 0 0 46 5 10.9 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.508321132 0.508321132 1 0.818151448 0.818151448 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000361 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 129318506 A C LAMA2 CCDS5138.1 r.? - - intronic 26 0 0 21 3 14.3 32 3 9.4 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.418708241 0.418708241 1 NA NA 1 0 0 1 5 NA 1 1 0.000155401 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 133572375 T G EYA4 CCDS5166.1 r.? - - intronic 38 0 0 45 4 8.9 34 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.344294004 0.344294004 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000791 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 62973471 G C - - - - - - 9 0 0 11 4 36.4 11 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.408123791 1.408123791 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000201 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 158177176 C A PTPRN2 CCDS5949.1 r.? - - intronic 32 0 0 24 4 16.7 44 5 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.693158877 0.693158877 1 0.5077951 0.5077951 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000613 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 50754647 A G - - - - - - 33 0 0 52 6 11.5 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.537737315 0.537737315 1 1.303587973 1.303587973 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000261 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 68502497 G A CPA6 CCDS6200.1 r.? - - intronic 12 0 0 15 4 26.7 20 5 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.248485766 1.248485766 1 1.363585746 1.363585746 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000816 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 73311294 C T - - - - - - 33 0 0 39 6 15.4 56 9 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.720100405 0.720100405 1 0.87814922 0.87814922 1 NA NA 0 NA NA 1 5 NA 1 1 4.43E-08 1 1.2E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 76321338 C G HNF4G ENST00000354370 r.? - - intronic 36 0 0 42 4 9.5 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.444217782 0.550111699 0.807504699 1.139957684 1.139957684 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000601 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 82405260 T C - - - - - - 28 0 0 59 5 8.5 41 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.475652495 0.653872015 0.72743975 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000125 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 138876254 C A - - - - - - 38 0 0 67 5 7.5 77 8 10.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.600459424 0.600459424 1 0.87925167 0.87925167 1 NA NA 1 NA NA 0 5 NA 1 1 0.0000233 1 6.05E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 140382081 C T - - - - - - 26 0 0 87 6 6.9 76 6 7.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.55242267 0.55242267 1 0.667893096 0.667893096 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000558 1 0.00000253 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 140995838 C A TRAPPC9 CCDS34946.1 r.? - - intronic 35 0 0 81 5 6.2 77 7 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.49637979 0.49637979 1 0.769345212 0.769345212 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000584 1 0.000000138 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 40308913 T G - - - - - - 28 0 0 45 4 8.9 40 4 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.344294004 0.344294004 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000791 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 68803927 G C - - - - - - 11 0 0 23 3 13 14 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.502901354 0.502901354 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000205387 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 70983735 T G PGM5 CCDS6622.2 r.? - - intronic 9 0 0 33 9 27.3 30 1 3.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.329092843 1.329092843 1 0.179993318 0.179993318 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 101239844 G A GABBR2 CCDS6736.1 r.? - - intronic 24 0 0 42 5 11.9 30 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.460348162 0.460348162 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 113782476 C T LPAR1 CCDS6777.1 r.? - - intronic 34 0 0 46 5 10.9 57 7 12.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.639663443 0.639663443 1 0.793884187 0.793884187 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000361 1 1.66E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 6148645 T G NLGN4X CCDS14126.1 r.? - - upstream 30 0 0 44 4 9.1 28 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.352030948 0.352030948 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000723 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 30003342 G C - - - - - - 21 0 0 23 4 17.4 17 3 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.67311412 0.67311412 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000513 1 0.0000807 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 39028047 G A - - - - - - 31 0 0 46 5 10.9 29 3 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.421663443 0.421663443 1 0.458797327 0.458797327 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000361 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 48857770 C A GRIPAP1 CCDS35249.1 r.? - - intronic 11 0 0 22 4 18.2 18 8 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 1.977728285 1.977728285 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000425 1 1.63E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 63409663 T A FAM123B CCDS14377.2 r.3777a>u c.? p.? 3'UTR variant 11 0 0 15 4 26.7 7 3 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 1.91091314 1.91091314 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000816 1 0.00000431 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 4234451 C T - - - - - - 40 0 0 35 5 14.3 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 43491480 T G - - - - - - 34 0 0 41 4 9.8 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.379110251 0.379110251 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000546 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 166752296 T G - - - - - - 38 0 0 43 4 9.3 37 1 2.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.430525101 0.565862263 0.760830204 0.147267261 0.147267261 1 NA NA 0 NA NA 1 3 NA 1 1 0.000066 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 179651675 C T TDRD5 CCDS1332.1 r.? - - intronic 43 0 0 42 6 14.3 43 4 9.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.661990208 0.661990208 1 0.507253898 0.507253898 1 NA NA 0 NA NA 1 5 NA 1 1 7.02E-08 1 0.000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 189747675 C A - - - - - - 38 0 0 31 4 12.9 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.545815177 0.545815177 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000177 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 189859715 A C - - - - - - 45 0 0 47 4 8.5 33 3 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.359645659 0.991706156 0.36265345 0.405345212 0.405345212 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000939 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 218713056 G C - - - - - - 42 0 0 37 4 10.8 34 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.456961544 0.456961544 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000362 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 219461852 A C - - - - - - 44 0 0 44 4 9.1 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.385032412 1.061708944 0.36265345 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000723 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 223872106 T C - - - - - - 34 0 0 43 5 11.6 37 0 0 289 0 0 159 14 8.8 96 0 0 TRUE TRUE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.490810547 1.353387225 0.36265345 0 0 1 0.372339036 1.02670755 0.36265345 0 0 1 3 5 1 1 0.00000257 1.3E-13 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9776b 1 242262551 T A PLD5 CCDS1621.1 r.? - - intronic 13 0 0 38 8 21.1 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 248325061 A G - - - - - - 12 0 0 25 5 20 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000153 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 4787387 G T - - - - - - 44 0 0 95 6 6.3 69 4 5.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.621713733 0.621713733 1 0.621936951 0.621936951 1 NA NA 0 NA NA 0 5 NA 1 1 0.00000928 1 0.000416985 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 11420555 G C - - - - - - 24 0 0 44 4 9.1 41 2 4.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0.458556998 0.458556998 1 0.282331483 0.91807946 0.307524017 NA NA 1 NA NA 1 5 NA 1 1 0.0000723 1 0.018015855 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 19907160 C A C10orf112 ENST00000377266 r.? - - intronic 42 0 0 30 4 13.3 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.198417266 2.737600031 1 1 1 1 0.801582734 0.262399969 2 2 1 1 0.198417266 0.737600031 0.540896266 0.540896266 1 1.105883862 1.105883862 1 NA NA 1 NA NA 0 5 NA 1 1 0.0000154 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 28555058 T A MPP7 CCDS7158.1 r.? - - intronic 30 0 0 48 4 8.3 42 0 0 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.404083172 0.404083172 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000102016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 32219167 T C ARHGAP12 CCDS7170.1 r.? - - upstream 29 0 0 45 5 11.1 49 0 0 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.540400387 0.540400387 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000323 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 37532208 G A - - - - - - 30 0 0 41 15 36.6 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.781860735 0.890930368 2 1.355097127 1.355097127 1 NA NA 1 NA NA 0 5 NA 1 1 1.71E-24 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 38642569 G C ENSG00000099251 ENST00000356314 r.? - - upstream 15 1 6.7 29 5 17.2 20 1 5 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.837377176 0.837377176 1 0.259597151 NA 0 NA NA 1 NA NA 0 NA NA 0.072431031 1 0.000000336 1 0.09538952 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 38902543 T C - - - - - - 15 0 0 25 5 20 18 0 0 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.973694391 0.973694391 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000153 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 42488569 T A - - - - - - 35 0 0 30 5 16.7 42 4 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.813034816 0.813034816 1 0.493234586 0.493234586 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000401 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 48970121 G A - - - - - - 26 0 0 18 4 22.2 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.636800774 0.636800774 1 0.552694878 0.552694878 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000181 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 50829808 C T CHAT CCDS44389.1 r.? - - intronic 15 0 0 27 6 22.2 17 5 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.636800774 0.636800774 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 4.23E-09 1 1.84E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 127294024 T C - - - - - - 24 1 4.2 26 7 26.9 25 3 12 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.040618956 1.040618956 1 0.534521158 0.534521158 1 NA NA 1 NA NA 1 5 NA 0.113346489 1 4.73E-11 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 3268381 C T - - - - - - 10 0 0 16 9 56.2 17 7 41.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.736081238 1.368040619 2 2.24718931 1.123594655 2 NA NA 1 NA NA 1 5 NA 1 1 2.16E-17 1 1.45E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 13387613 A G ARNTL CCDS31430.1 r.? - - intronic 45 0 0 51 5 9.8 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.477110251 0.477110251 1 0.779971047 0.779971047 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000606 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 23988622 C T - - - - - - 35 0 0 37 5 13.5 57 13 22.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.657243714 0.657243714 1 1.2435902 1.2435902 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000119 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 83025489 C T - - - - - - 19 0 0 49 13 26.5 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.326184768 1.326184768 1 0.665429844 0.665429844 1 NA NA 1 NA NA 1 5 NA 1 1 2.71E-19 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 93765963 C A HEPHL1 CCDS44710.1 r.? - - intronic 28 0 0 52 6 11.5 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 0.52672424 0.52672424 1 1.090868597 1.090868597 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000261 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 4745199 T C AKAP3 CCDS8531.1 r.? - - intronic 41 0 0 52 5 9.6 49 7 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.435617347 0.6509439 0.669208739 0.779971047 0.779971047 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000668 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 9464018 G C DDX11L8 ENST00000341155 r.? - - intronic 13 0 0 48 21 43.8 30 12 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.987504144 1.190686399 1.669208739 2.181737194 1.090868597 2 NA NA 0 NA NA 1 5 NA 1 1 9.35E-36 1 1.94E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 18092245 T A - - - - - - 39 0 0 50 4 8 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.389477756 0.389477756 1 0.83996882 0.83996882 1 NA NA 1 NA NA 1 5 NA 1 1 0.000119787 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 64970486 C A - - - - - - 35 0 0 21 4 19 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.545009671 0.545009671 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000349 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 129329453 C T - - - - - - 17 0 0 26 5 19.2 15 1 6.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.742746615 0.742746615 1 0.29844098 0.29844098 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000188 1 0.072431031 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 24990907 G C PARP4 CCDS9307.1 r.? - - downstream 34 0 0 37 4 10.8 41 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.417794971 0.417794971 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000362 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 26167097 A C ATP8A2 CCDS41873.1 r.? - - intronic 41 0 0 49 6 12.2 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.471953578 0.471953578 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000182 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 37174580 T C - - - - - - 23 0 0 31 8 25.8 20 6 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 5.7E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 110514271 G T - - - - - - 36 0 0 23 4 17.4 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.49911412 0.49911412 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000513 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 112959347 C A - - - - - - 9 0 0 11 4 36.4 5 1 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000201 1 0.024751247 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 20790318 G A - - - - - - 31 0 0 38 5 13.2 34 1 2.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.510638298 0.510638298 1 0.129175947 0.129175947 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000137 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 36774187 C A - - - - - - 35 0 0 18 5 27.8 27 11 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.797435203 0.797435203 1 1.405917595 1.405917595 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-08 1 5.92E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 69246945 G C NOX5 CCDS32276.1 r.? - - intronic 32 0 0 34 4 11.8 49 6 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 0.574479691 0.574479691 1 0.679725432 0.679725432 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000257 1 0.000000182 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 96555308 T A - - - - - - 28 0 0 38 4 10.5 31 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.406189555 0.406189555 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000403 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 5028146 T A SEC14L5 CCDS45403.1 r.? - - intronic 17 0 0 25 8 32 13 2 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.237911025 1.237911025 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 0.001879825 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 27865827 A C GSG1L CCDS45450.1 r.? - - intronic 13 0 0 31 9 29 17 7 41.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 1.83518931 1.83518931 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 1.45E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 60728457 A G - - - - - - 37 0 0 24 6 25 26 11 42.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.461187082 1.461187082 1 NA NA 1 NA NA 1 5 NA 1 1 1.95E-09 1 3.52E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 64245105 C A - - - - - - 42 0 0 25 4 16 38 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.458955513 0.458955513 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000727 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 75100442 C A ZNRF1 CCDS10912.1 r.? - - intronic 23 0 0 31 4 12.9 27 1 3.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.370032882 0.370032882 1 0.12781069 0.12781069 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000177 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 76270667 C A - - - - - - 41 0 0 21 4 19 19 4 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.545009671 0.545009671 1 0.72886637 0.72886637 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000349 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 89696803 C A DPEP1 CCDS10982.1 r.276c>a c.? p.? 5'UTR variant 13 0 0 27 9 33.3 14 4 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 0.000000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 34922326 C G GGNBP2 CCDS11314.1 r.? - - intronic 44 0 0 37 5 13.5 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.387243714 0.387243714 1 0.576875278 0.576875278 1 NA NA 1 NA NA 1 2 NA 1 1 0.00000119 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 34929779 C G GGNBP2 CCDS11314.1 r.? - - intronic 46 0 0 32 4 12.5 30 3 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.358558994 0.358558994 1 0.345434298 0.345434298 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000201 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 44186249 C G KIAA1267 CCDS11503.1 r.? - - intronic 36 0 0 38 6 15.8 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.453218569 0.453218569 1 1.357556793 1.357556793 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 56300446 A G MKS1 CCDS11603.2 r.? - - upstream 24 0 0 53 6 11.3 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.550137331 0.550137331 1 0.665429844 0.665429844 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000293 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 62821952 C A ENSG00000214176 ENST00000397718 r.? - - intronic 25 0 0 38 6 15.8 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.769218569 0.769218569 1 0.93269265 0.93269265 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 71824044 C T C17orf54 ENST00000444747 r.? - - upstream 34 0 0 35 5 14.3 30 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000895 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 21470323 T A LAMA3 CCDS42419.1 r.? - - intronic 35 0 0 48 4 8.3 43 1 2.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.433665393 1.216752028 0.356412304 0.143568766 0.143568766 1 NA NA 1 NA NA 1 5 NA 1 1 0.000102016 1 0.193893409 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 40328208 A G RIT2 CCDS11921.1 r.? - - intronic 38 0 0 51 6 11.8 48 22 45.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.616536342 0.616536342 1 2.858891075 1.025509143 2.787777267 NA NA 1 NA NA 1 5 NA 1 1 0.000000232 1 5.76E-38 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 43735739 G A PSG9 ENST00000433626 r.? - - intronic 41 0 0 38 6 15.8 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.611218569 0.611218569 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 998759 G C SNTG2 CCDS46220.1 r.? - - intronic 31 0 0 44 4 9.1 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.443030948 0.443030948 1 1.123594655 1.123594655 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000723 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 5397502 A C - - - - - - 36 0 0 49 4 8.2 42 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.3992147 0.3992147 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000110643 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 9619480 C T IAH1 CCDS42651.1 r.? - - intronic 31 0 0 45 5 11.1 41 9 22 2 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.540400387 0.540400387 1 1.199955457 1.199955457 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000323 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 23467625 C T - - - - - - 20 0 0 59 6 10.2 58 2 3.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.598584139 0.598584139 1 0.219447661 0.219447661 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000561 1 0.034352256 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 24284976 C T FKBP1B CCDS33153.1 r.? - - intronic 38 0 0 48 6 12.5 57 2 3.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.733558994 0.733558994 1 0.225902004 0.225902004 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000016 1 0.03327602 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 90165681 G A - - - - - - 31 0 0 18 4 22.2 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 0.858800774 0.858800774 1 1.43139533 1.43139533 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000181 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 112505447 A C - - - - - - 27 0 0 44 4 9.1 31 3 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.261030948 0.261030948 1 0.335071269 0.335071269 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000723 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 172469829 A G - - - - - - 26 0 0 31 5 16.1 28 1 3.6 0 0 NA 2 0 0 0 0 NA TRUE FALSE 1.744501546 1.271505408 1 1 0 0 0.255498454 0.728494592 2 2 0 0 0.744501546 0.271505408 0.581688733 0.581688733 1 0.134130542 0.134130542 1 0 NA 0 NA NA 1 3 NA 1 1 0.000000476 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 173790561 A G RAPGEF4 CCDS42775.1 r.? - - intronic 10 0 0 22 9 40.9 14 5 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 1.271505408 1 1 0 0 0.255498454 0.728494592 2 2 0 0 0.744501546 0.271505408 1.477706161 1.477706161 1 1.330127876 1.330127876 1 NA NA 1 NA NA 1 5 NA 1 1 9.16E-16 1 6.03E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 232865318 C T DIS3L2 CCDS42834.1 r.? - - intronic 39 0 0 52 6 11.5 31 3 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.444874275 0.444874275 1 0.432071269 0.432071269 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000261 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 239153933 G T PER2 CCDS2528.1 r.5131c>a c.? p.? 3'UTR variant 26 0 0 45 5 11.1 37 2 5.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.429400387 0.429400387 1 0.240534521 0.240534521 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000323 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 9458665 A T - - - - - - 144 0 0 128 7 5.5 148 3 2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.18698845 0.18698845 1 0.078934618 0.078934618 1 NA NA 1 NA NA 0 3 NA 1 1 0.00000435 1 0.03877503 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 29292894 C T - - - - - - 27 0 0 21 6 28.6 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 7.95E-10 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 27117321 C T - - - - - - 37 0 0 37 6 16.2 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.626692456 0.626692456 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-08 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 35370694 A T - - - - - - 11 0 0 24 6 25 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 1.95E-09 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 45131903 C T PRR5 CCDS14058.1 r.? - - intronic 26 0 0 28 4 14.3 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000116 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 47988630 C T - - - - - - 39 0 0 38 5 13.2 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.510638298 0.510638298 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000137 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 14155769 A T CHCHD4 CCDS2617.1 r.? - - intronic 31 0 0 50 4 8 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.469477756 0.469477756 1 1.23277951 1.23277951 1 NA NA 1 NA NA 1 5 NA 1 1 0.000119787 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 16895055 T C - - - - - - 40 0 0 53 5 9.4 43 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 0.457636364 0.457636364 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000734 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 19032182 C A - - - - - - 31 0 0 33 5 15.2 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.588007737 0.588007737 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000066 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 19286046 C T KCNH8 CCDS2632.1 r.? - - intronic 26 0 0 35 5 14.3 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 44766164 G A ZNF502 CCDS2719.1 r.? - - downstream 33 0 0 40 5 12.5 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000178 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 45739100 A G SACM1L CCDS33745.1 r.? - - intronic 33 0 0 24 4 16.7 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.113904472 1 1 0 0 1 0.886095528 NA 2 NA 0 NA 0.113904472 0.479034816 0.479034816 1 0.974131556 0.974131556 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000613 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 76104240 G C ROBO2 ENST00000487694 r.? - - intronic 31 0 0 35 4 11.4 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.441005803 0.441005803 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000289 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 99948034 G A - - - - - - 29 0 0 27 5 18.5 40 3 7.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.715667311 0.715667311 1 0.334075724 0.334075724 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000023 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 101345456 G A - - - - - - 32 0 0 36 5 13.9 50 5 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.537717602 0.537717602 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000104 1 0.00000549 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 126786886 G A - - - - - - 43 0 0 64 6 9.4 29 2 6.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 0.645636364 0.645636364 1 0.376349666 0.376349666 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000914 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 129986317 C A - - - - - - 36 0 0 43 6 14 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 0.961586074 0.961586074 1 1.036325167 1.036325167 1 NA NA 1 NA NA 0 5 NA 1 1 8.13E-08 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 142416205 A G PLS1 CCDS3125.1 r.? - - intronic 35 0 0 49 6 12.2 47 0 0 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 0.837953578 0.837953578 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000182 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 163909559 G C - - - - - - 35 0 0 36 4 11.1 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.429400387 0.429400387 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000324 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 2936603 A C ADD1 CCDS3364.1 r.? - - downstream 13 0 0 18 5 27.8 2 1 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.797435203 0.797435203 1 1.727171492 1.727171492 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-08 1 0.009975 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 42092784 G A SLC30A9 CCDS3465.1 r.? - - downstream 26 0 0 23 4 17.4 25 12 48 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.49911412 0.49911412 1 1.658084633 1.658084633 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000513 1 1.2E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 64847724 A G - - - - - - 35 0 0 24 4 16.7 33 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.479034816 0.479034816 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000613 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 165481283 C T - - - - - - 42 0 0 25 5 20 28 1 3.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0.124356347 0.124356347 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000153 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 176692548 C A GPM6A CCDS3824.1 r.? - - intronic 30 0 0 19 4 21.1 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.605247582 0.605247582 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000228 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 3300409 A T - - - - - - 20 0 0 14 3 21.4 18 5 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.613852998 0.613852998 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000437 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 166838902 A T - - - - - - 43 0 0 24 8 33.3 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.732320713 0.732320713 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-13 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 23500098 G T - - - - - - 38 0 0 59 5 8.5 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.413820116 0.413820116 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000125 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 44329045 G A SPATS1 ENST00000288390 r.? - - intronic 31 0 0 43 5 11.6 22 3 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.540965609 0.540965609 1 0.741790646 0.741790646 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000257 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 49889599 T C - - - - - - 24 0 0 48 5 10.4 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.485003649 0.61004855 0.795024673 1.090868597 1.090868597 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000447 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 57492498 C G PRIM2 ENST00000425433 r.? - - intronic 103 0 0 132 9 6.8 120 4 3.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.317117771 0.317117771 1 0.179993318 0.179993318 1 NA NA 0 NA NA 1 3 NA 1 1 2.85E-08 1 0.003240106 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 89824288 C A SFRS13B CCDS47459.1 r.? - - intronic 33 0 0 47 6 12.8 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.49516441 0.49516441 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000141 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 117838807 G C DCBLD1 CCDS34522.1 r.? - - intronic 22 0 0 34 4 11.8 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.456479691 0.456479691 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000257 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 129260027 G C LAMA2 CCDS5138.1 r.? - - intronic 27 0 0 36 4 11.1 44 16 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.429400387 0.429400387 1 1.621380846 1.621380846 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000324 1 5.57E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 152540600 G A SYNE1 CCDS5236.1 r.? - - intronic 25 0 0 44 6 13.6 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.526112186 0.526112186 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 9.37E-08 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 5962906 T G RSPH10B CCDS34598.1 r.? - - downstream 11 0 0 9 4 44.4 8 1 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.273601547 1.273601547 1 0.431792873 0.431792873 1 NA NA 1 NA NA 1 5 NA 1 1 7.72E-08 1 0.039306956 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 33447275 T A BBS9 CCDS43566.1 r.? - - intronic 20 0 0 17 4 23.5 13 4 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.674090909 0.674090909 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000141 1 0.000000431 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 108810166 C A - - - - - - 39 0 0 34 5 14.7 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.66051935 0.66051935 1 0.902714273 0.902714273 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 120232625 A T KCND2 CCDS5776.1 r.? - - intronic 35 0 0 47 4 8.5 37 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.381932957 0.611232623 0.624856958 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000939 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 125015564 C A - - - - - - 34 0 0 43 4 9.3 46 2 4.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.417879589 0.6687604 0.624856958 0.225678568 0.284231435 0.79399581 NA NA 1 NA NA 0 5 NA 1 1 0.000066 1 0.022369545 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 125434502 C T - - - - - - 37 0 0 53 6 11.3 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.507746167 0.81257984 0.624856958 0.692780721 0.692780721 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000293 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 126506924 G C GRM8 CCDS5794.1 r.? - - intronic 28 0 0 45 4 8.9 31 1 3.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.399906273 0.639996512 0.624856958 0.167946841 0.167946841 1 NA NA 1 NA NA 0 5 NA 1 1 0.0000791 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 158177177 C A PTPRN2 CCDS5949.1 r.? - - intronic 32 0 0 23 4 17.4 45 5 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.722213441 0.722213441 1 0.494432071 0.494432071 1 NA NA 1 NA NA 0 5 NA 1 1 0.00000513 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 15731601 C G - - - - - - 10 0 0 21 7 33.3 2 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 17030851 A G ZDHHC2 CCDS47810.1 r.? - - intronic 43 0 0 24 4 16.7 27 2 7.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.479034816 0.479034816 1 0.255621381 0.255621381 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000613 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 21477071 C A - - - - - - 21 0 0 27 5 18.5 19 6 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.530667311 0.530667311 1 1.091572383 1.091572383 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000023 1 4.01E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 58194509 A C C8orf71 ENST00000399610 r.? - - intronic 39 0 0 46 4 8.7 43 2 4.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.406809969 0.503786503 0.807504699 0.25635412 0.25635412 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000862 1 0.019709573 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 66447471 G A - - - - - - 24 0 0 42 5 11.9 33 9 27.3 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.556441222 0.556441222 1 1.489035635 1.489035635 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000228 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 82677822 C G - - - - - - 27 0 0 44 4 9.1 56 9 16.1 0 0 NA 1 0 0 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.509227965 0.509227965 1 1.074287708 1.074287708 1 0 NA 0 NA NA 0 5 NA 1 1 0.0000723 1 1.2E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 85668318 C A RALYL ENST00000399361 r.? - - intronic 54 0 0 50 5 10 55 6 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.55959117 0.55959117 1 0.727312796 0.727312796 1 NA NA 0 NA NA 0 5 NA 1 1 0.00000549 1 0.000000367 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 86057080 C A LRRCC1 CCDS43750.1 r.? - - intronic 27 0 0 60 6 10 45 4 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.55959117 0.55959117 1 0.593860907 0.593860907 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000621 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 102080191 G A AC018781.2 ENST00000514926 r.? - - intronic 28 0 0 40 5 12.5 55 8 14.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.556860544 0.556860544 1 0.790879733 0.790879733 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000178 1 3.86E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 103965342 G A - - - - - - 38 0 0 40 5 12.5 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.556860544 0.556860544 1 1.199955457 1.199955457 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000178 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 113479997 G T CSMD3 CCDS6315.1 r.? - - intronic 38 0 0 51 5 9.8 51 13 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.436578666 0.744490857 0.586412395 1.390857461 1.390857461 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000606 1 4.87E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 129528334 G T - - - - - - 37 0 0 44 4 9.1 65 14 21.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.534030948 0.534030948 1 1.387683742 1.387683742 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000723 1 2.93E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 134785290 C A - - - - - - 27 0 0 107 6 5.6 79 7 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.596100091 7 4 5 2 2 0.403899909 1 5 NA 2 NA 0.596100091 NA 0.474016034 0.795195373 0.596100091 0.841436526 0.841436526 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000183 1 0.000000165 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 140366871 T A - - - - - - 37 0 0 57 4 7 70 8 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.560428796 0.560428796 1 0.9637951 0.9637951 1 NA NA 1 NA NA 1 5 NA 1 1 0.000199821 1 2.8E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 65975438 T A - - - - - - 10 0 0 11 3 27.3 14 2 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 0.00002 1 0.002185852 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 68745163 A C - - - - - - 25 0 0 19 3 15.8 34 2 5.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.611218569 0.611218569 1 0.262806236 0.262806236 1 NA NA 1 NA NA 1 5 NA 1 1 0.000114071 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 89062368 A G - - - - - - 28 0 0 49 5 10.2 39 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.394584139 0.394584139 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000496 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 113721453 A G LPAR1 CCDS6777.1 r.? - - intronic 27 0 0 50 10 20 44 4 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.173694391 1.173694391 1 0.587345212 0.587345212 1 NA NA 1 NA NA 1 5 NA 1 1 8.36E-14 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 119741213 G T ASTN2 CCDS48009.1 r.? - - intronic 29 0 0 57 6 10.5 55 11 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.616189555 0.616189555 1 1.290868597 1.290868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000456 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 41590543 C T CASK CCDS48095.1 r.? - - intronic 32 0 0 39 5 12.8 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.49516441 0.49516441 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000156 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 43450675 G C - - - - - - 12 0 0 20 9 45 18 3 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.740812379 1.740812379 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.12E-16 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 64170361 C T ZC4H2 CCDS14380.1 r.? - - intronic 25 0 0 39 6 15.4 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 4.43E-08 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 83519474 G C - - - - - - 38 0 0 35 4 11.4 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.441005803 0.441005803 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000289 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 90586291 T C - - - - - - 21 1 4.8 38 12 31.6 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 1.300668151 1.300668151 1 NA NA 1 NA NA 1 5 NA 0.099912572 1 5.86E-19 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 91131269 G T PCDH11X CCDS14461.1 r.? - - intronic 28 0 0 32 6 18.8 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 94829291 T C - - - - - - 20 0 0 22 7 31.8 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.230174081 1.230174081 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 101684673 T G NXF2B CCDS43979.1 r.? - - intronic 27 0 0 15 3 20 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000544 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 881543 C T NOC2L CCDS3.1 r.1967+10g>a c.1917+10G>A p.? splice region 23 0 0 32 10 31.2 28 3 10.7 209 0 0 357 106 29.7 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 0.476614699 0.476614699 1 1.14893617 1.14893617 1 NA NA 1 5 NA 1 1 5.7E-16 3.28E-152 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 1019573 C T C1orf159 CCDS7.2 r.? - - intronic 31 0 0 45 17 37.8 37 9 24.3 232 0 0 377 88 23.3 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.462282398 0.731141199 2 1.082405345 1.082405345 1 0.901353965 0.901353965 1 NA NA 1 5 NA 1 1 7.37E-28 3.47E-116 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 1558837 A T MIB2 CCDS41224.1 r.306a>u c.179A>T p.D60V missense 26 0 0 42 7 16.7 10 1 10 49 0 0 53 13 24.5 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.445434298 0.445434298 1 0.947775629 0.947775629 1 NA NA 1 5 NA 1 1 1.81E-09 8.53E-19 0.04888987 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 1560721 C T MIB2 CCDS41224.1 r.1078c>u c.951C>T p.H317H silent 44 0 0 37 21 56.8 9 4 44.4 73 0 0 60 35 58.3 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.19729207 1.098646035 2 1.977728285 1.977728285 1 2.255319149 1.127659574 2 NA NA 1 5 NA 1 1 5.69E-39 1.34E-64 7.72E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 1876121 C T KIAA1751 ENST00000493964 r.? - - intronic 31 0 0 51 13 25.5 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.87E-19 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 2014667 A C PRKCZ CCDS37.1 r.? - - intronic 32 0 0 42 13 31 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 2.72E-20 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 2125095 C T C1orf86 CCDS38.2 r.478g>a c.453G>A p.Q151Q silent 31 0 0 36 5 13.9 15 1 6.7 187 0 0 341 70 20.5 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.537717602 0.537717602 1 0.29844098 0.29844098 1 0.79303675 0.79303675 1 NA NA 1 5 NA 1 1 0.00000104 1.79E-88 0.072431031 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 2411882 T C PLCH2 ENST00000343889 r.? - - intronic 29 0 0 44 11 25 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 2575896 G A TTC34 ENST00000401094 r.1104c>u c.980C>T p.T327I missense 26 0 0 33 6 18.2 39 7 17.9 149 3 2 213 36 16.9 1 0 0 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 0.797327394 0.797327394 1 0.65377176 0.65377176 1 0 0 1 5 5 1 0.039429107 1.54E-08 4.75E-43 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 2705540 C T TTC34 ENST00000401094 r.? - - intronic 22 0 0 38 11 28.9 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 2731770 G A - - - - - - 38 0 0 46 26 56.5 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.185686654 1.092843327 2 1.634743875 0.817371938 2 NA NA 1 NA NA 1 5 NA 1 1 7.59E-48 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 2900116 G A - - - - - - 33 0 0 40 17 42.5 50 27 54 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.64410058 0.82205029 2 2.405345212 1.202672606 2 NA NA 1 NA NA 1 5 NA 1 1 6.07E-29 1 7.2E-49 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 3101907 C A PRDM16 CCDS44048.1 r.? - - intronic 23 0 0 32 8 25 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.634743875 0.817371938 2 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 3218490 G T PRDM16 CCDS44048.1 r.? - - intronic 31 0 0 51 10 19.6 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-13 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 3270443 G C PRDM16 CCDS44048.1 r.? - - intronic 31 0 0 45 11 24.4 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.659242762 0.659242762 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-16 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 3769131 T G KIAA0562 CCDS30571.1 r.? - - intronic 37 0 0 31 9 29 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 4018858 G T - - - - - - 23 0 0 27 16 59.3 30 14 46.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.294003868 1.147001934 2 2.080178174 1.040089087 2 NA NA 1 NA NA 1 5 NA 1 1 1.89E-30 1 8.24E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 4143841 C A - - - - - - 25 0 0 44 13 29.5 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 0.712694878 0.712694878 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 4153842 G T - - - - - - 34 0 0 32 8 25 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 4314405 T G - - - - - - 40 0 0 36 8 22.2 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 4340970 C T - - - - - - 29 0 0 21 11 52.4 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.027079304 1.013539652 2 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-20 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 4605084 C A - - - - - - 25 0 0 39 7 17.9 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 5015110 C A - - - - - - 29 0 0 56 17 30.4 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.176015474 1.176015474 1 0.828507795 0.828507795 1 NA NA 1 NA NA 1 5 NA 1 1 6.22E-26 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 5091598 G T - - - - - - 40 0 0 39 13 33.3 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 5230558 C T - - - - - - 26 0 0 46 11 23.9 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.924564797 0.924564797 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 5.55E-16 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 5269493 T A - - - - - - 41 0 0 35 7 20 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 5386582 C T - - - - - - 36 0 0 30 9 30 38 15 39.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.759465479 0.879732739 2 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 4.24E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 5599554 C G - - - - - - 32 0 0 29 12 41.4 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.601547389 0.800773694 2 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 5895577 C T - - - - - - 34 0 0 42 15 35.7 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.381044487 1.381044487 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 6237168 A T CHD5 CCDS57.1 r.? - - intronic 29 0 0 40 14 35 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.353965184 1.353965184 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-22 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 6364568 G C ACOT7 CCDS30573.1 r.? - - intronic 21 0 0 28 4 14.3 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000116 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 6542300 C A PLEKHG5 CCDS41240.1 r.? - - intronic 28 0 0 46 9 19.6 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 6645277 T A ZBTB48 CCDS84.1 r.? - - intronic 33 0 0 41 8 19.5 37 3 8.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.754352031 0.754352031 1 0.360801782 0.360801782 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 6771275 T A - - - - - - 45 0 0 43 14 32.6 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 7004865 G A CAMTA1 CCDS30576.1 r.? - - intronic 35 0 0 52 6 11.5 34 2 5.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.444874275 0.444874275 1 0.262806236 0.262806236 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000261 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 8033543 G T PARK7 CCDS93.1 r.? - - intronic 45 0 0 42 14 33.3 57 13 22.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.0155902 1.0155902 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-22 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 8139948 T C - - - - - - 30 0 0 50 13 26 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.005802708 1.005802708 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 3.65E-19 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 8887234 G A - - - - - - 25 0 0 31 11 35.5 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 9447021 G T - - - - - - 24 0 0 24 11 45.8 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.313760155 1.313760155 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-19 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 9586821 A G - - - - - - 31 0 0 30 15 50 18 2 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 0.383432071 0.383432071 1 NA NA 1 NA NA 1 5 NA 1 1 4.41E-27 1 0.003626632 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 10328279 C T KIF1B CCDS111.1 r.831c>u c.678C>T p.T226T silent 28 0 0 36 8 22.2 32 5 15.6 155 0 0 108 22 20.4 39 10 25.6 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.636800774 0.636800774 1 0.538877506 0.538877506 1 0.585168279 0.585168279 1 0.884311804 0.884311804 1 5 4 1 1 1.04E-11 7.68E-29 0.000000562 5.44E-15 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 1 10570801 A T PEX14 CCDS30582.1 r.? - - intronic 23 0 0 25 11 44 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.26212766 1.26212766 1 0.749592428 0.749592428 1 NA NA 1 NA NA 1 5 NA 1 1 2.04E-19 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 10570818 A C PEX14 CCDS30582.1 r.? - - intronic 24 0 0 26 11 42.3 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 10885361 C G - - - - - - 19 0 0 33 9 27.3 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 11661470 C T - - - - - - 25 0 0 30 9 30 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 1.184839644 1.184839644 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 12179068 C G TNFRSF8 CCDS144.1 r.? - - intronic 25 0 0 26 11 42.3 28 11 39.3 0 0 NA 1 0 0 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.357556793 1.357556793 1 0 0 1 NA NA 1 5 NA 1 1 3.52E-19 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 12376046 G A VPS13D CCDS30588.1 r.? - - intronic 25 0 0 26 11 42.3 19 3 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 0.545786192 0.545786192 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 13186287 A G - - - - - - 35 0 0 29 13 44.8 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.285075435 1.285075435 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 7.69E-23 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 14156533 A G PRDM2 CCDS150.1 r.? - - downstream 30 0 0 31 9 29 16 2 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 0.431792873 0.431792873 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 0.002863359 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 14493759 T A C1orf196 ENST00000412667 r.? - - intronic 35 0 0 26 9 34.6 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 0.576875278 0.576875278 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 14536917 T C - - - - - - 40 0 0 25 7 28 35 13 37.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 1.281561247 1.281561247 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 1.63E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 14839946 C A - - - - - - 40 0 0 27 6 22.2 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.636800774 0.636800774 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 5 NA 1 1 4.23E-09 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 15016283 T G ENSG00000189337 CCDS152.2 r.? - - intronic 29 0 0 28 7 25 20 5 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 15471139 A G - - - - - - 27 1 3.7 22 13 59.1 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.695266925 1.695266925 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 0.126579904 1 5.82E-25 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 15747329 G C EFHD2 CCDS155.1 r.? - - intronic 28 0 0 28 13 46.4 29 10 34.5 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.330970986 1.330970986 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 4.26E-23 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 17658369 C T PADI4 CCDS180.1 r.? - - intronic 34 0 0 20 5 25 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 4.55E-08 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 17764961 C T RCC2 CCDS181.1 r.238g>a c.50G>A p.G17D missense 24 0 0 26 7 26.9 1 1 100 11 0 0 12 5 41.7 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.771618956 0.771618956 1 3.454342984 3.454342984 1 1.196152805 1.196152805 1 NA NA 1 5 NA 1 1 4.73E-11 2.4E-09 0.005 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 18075771 C A - - - - - - 35 0 0 44 14 31.8 44 13 29.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 1.01903118 1.01903118 1 NA NA 1 NA NA 1 5 NA 1 1 6.1E-22 1 5.49E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 18448911 C A IGSF21 CCDS184.1 r.? - - intronic 29 0 0 20 8 40 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 4.66E-14 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 19206913 C A ALDH4A1 CCDS188.1 r.? - - intronic 17 0 0 23 8 34.8 17 8 47.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 1.626995546 1.626995546 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 9.12E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 19667280 T C CAPZB ENST00000264203 r.? - - intronic 29 0 0 33 13 39.4 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.13017795 1.13017795 1 1.184839644 1.184839644 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 21625136 G A ECE1 CCDS44081.1 r.? - - intronic 30 0 0 32 11 34.4 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.330754352 1.330754352 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 21779892 T C NBPF3 CCDS216.1 r.? - - intronic 27 0 0 40 6 15 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.580270793 0.580270793 1 0.650334076 0.650334076 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-08 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 21989730 C G RAP1GAP CCDS218.1 r.? - - intronic 32 0 0 39 13 33.3 30 1 3.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.146993318 0.146993318 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 22290665 T G - - - - - - 31 0 0 37 7 18.9 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 22321686 G T CELA3B ENST00000400277 r.? - - intronic 23 0 0 36 8 22.2 15 3 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 0.0000544 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 22523691 G A - - - - - - 33 0 0 44 11 25 44 14 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.416481069 1.416481069 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 22574323 A T - - - - - - 32 0 0 41 7 17.1 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 22721398 T A - - - - - - 31 0 0 44 14 31.8 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.230174081 1.230174081 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 6.1E-22 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 22886111 C A EPHA8 CCDS225.1 r.? - - upstream 32 0 0 37 14 37.8 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.462282398 1.462282398 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-23 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 22938414 A C - - - - - - 41 0 0 31 12 38.7 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.497098646 1.497098646 1 1.011135857 1.011135857 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 23057839 G A EPHB2 CCDS230.1 r.? - - intronic 20 0 0 40 11 27.5 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 23315379 G T - - - - - - 25 0 0 29 8 27.6 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 24300375 C T SFRS13A CCDS30629.1 r.? - - intronic 42 0 0 32 9 28.1 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 24709812 C A C1orf201 CCDS253.1 r.? - - intronic 34 0 0 41 10 24.4 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 25056405 T C - - - - - - 18 0 0 45 9 20 33 8 24.2 0 0 NA 2 2 100 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.077951002 1.077951002 1 3.868471954 3.868471954 1 NA NA 1 5 NA 1 1 1.47E-12 0.000025 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 25358792 C T - - - - - - 37 0 0 35 13 37.1 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.435203095 1.435203095 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 25358793 T G - - - - - - 38 0 0 34 13 38.2 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.477756286 1.477756286 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 25420070 C G - - - - - - 27 0 0 33 8 24.2 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 25758085 C A TMEM57 CCDS30638.1 r.? - - intronic 20 0 0 22 6 27.3 8 4 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 2.227171492 2.227171492 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-09 1 4.31E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 25853365 C T - - - - - - 27 0 0 40 15 37.5 40 14 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 1.559020045 0.779510022 2 NA NA 1 NA NA 1 5 NA 1 1 1.09E-24 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 26185920 G C PAQR7 CCDS267.1 r.? - - downstream 42 0 0 42 5 11.9 5 1 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.460348162 0.460348162 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000228 1 0.024751247 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 26894722 G A RPS6KA1 CCDS284.1 r.? - - intronic 38 0 0 41 13 31.7 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 26979066 T C - - - - - - 39 1 2.6 44 17 38.6 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.493230174 0.746615087 2 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 0.177567718 1 4.61E-28 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 27532134 G T - - - - - - 24 0 0 35 7 20 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 27560954 T A WDTC1 CCDS296.1 r.? - - upstream 24 0 0 34 9 26.5 9 1 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 0.044110422 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 28038366 C A - - - - - - 31 0 0 33 10 30.3 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 28438873 C A - - - - - - 20 0 0 42 11 26.2 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.013539652 1.013539652 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 28659607 A T MED18 CCDS322.1 r.? - - intronic 38 0 0 50 14 28 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.083172147 1.083172147 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 4.84E-21 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 29192021 G T OPRD1 CCDS329.1 r.? - - downstream 23 0 0 47 13 27.7 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.071566731 1.071566731 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-19 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 29203891 A G - - - - - - 28 0 0 47 15 31.9 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.234042553 1.234042553 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 1.97E-23 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 29226758 C A EPB41 CCDS331.1 r.? - - intronic 29 0 0 39 15 38.5 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.489361702 1.489361702 1 1.527839644 1.527839644 1 NA NA 1 NA NA 1 5 NA 1 1 6.85E-25 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 29272340 G T EPB41 CCDS331.1 r.? - - intronic 35 0 0 33 9 27.3 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 29747914 C T ENSG00000231360 ENST00000455342 r.? - - intronic 30 0 0 38 12 31.6 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 29771887 C G ENSG00000231360 ENST00000455342 r.? - - intronic 32 0 0 44 12 27.3 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.532293987 1.532293987 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 29772429 T G ENSG00000231360 ENST00000455342 r.? - - intronic 28 0 0 48 14 29.2 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.12959381 1.12959381 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-21 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 30034327 C G - - - - - - 31 0 0 42 11 26.2 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.013539652 1.013539652 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 30039598 G C - - - - - - 37 0 0 41 16 39 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.508704062 0.754352031 2 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 1.4E-26 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 30231567 T C - - - - - - 26 0 0 43 8 18.6 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 30390884 C G - - - - - - 30 0 0 39 8 20.5 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 30642555 G C - - - - - - 31 0 0 47 14 29.8 30 3 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.152804642 1.152804642 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 30809787 G T - - - - - - 24 0 0 40 6 15 25 0 0 245 0 0 237 7 3 21 2 9.5 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.580270793 0.580270793 1 0 0 1 0.116054159 0.116054159 1 0.423162584 0.423162584 1 3 1 1 1 5.18E-08 0.000219032 1 0.004928472 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 30952850 C T - - - - - - 25 0 0 36 9 25 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 31229797 C T LAPTM5 CCDS337.1 r.? - - intronic 31 0 0 34 9 26.5 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 31584388 G T - - - - - - 29 0 0 54 14 25.9 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.001934236 1.001934236 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-20 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 31942099 C T - - - - - - 35 0 0 41 12 29.3 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 1.135857461 1.135857461 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 31957391 A G - - - - - - 32 0 0 52 13 25 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 6.47E-19 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 32027850 A T - - - - - - 26 0 0 39 7 17.9 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.300668151 1.300668151 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 32059784 A T - - - - - - 23 0 0 47 10 21.3 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.823984526 0.823984526 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 32173306 T A COL16A1 CCDS41297.1 r.? - - upstream 24 0 0 41 10 24.4 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 32264017 G A SPOCD1 CCDS347.1 r.? - - intronic 34 0 0 38 8 21.1 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 32322547 A T - - - - - - 39 0 0 47 17 36.2 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.400386847 1.400386847 1 0.538975501 0.538975501 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-27 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 33243411 C T KIAA1522 CCDS41298.1 r.? - - downstream 29 0 0 29 12 41.4 43 13 30.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.601547389 0.800773694 2 1.345211581 1.345211581 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 3.88E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 33321340 G C S100PBP CCDS30666.1 r.? - - intronic 37 0 0 53 9 17 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.657640232 0.657640232 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 7.1E-12 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 33327442 G C S100PBP CCDS30666.1 r.? - - downstream 33 0 0 58 8 13.8 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.53384913 0.53384913 1 1.305122494 1.305122494 1 NA NA 1 NA NA 1 5 NA 1 1 5.99E-10 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 33388152 C A - - - - - - 23 0 0 49 10 20.4 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.789168279 0.789168279 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-14 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 33450438 C G - - - - - - 33 0 0 28 5 17.9 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000279 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 33453379 G C - - - - - - 33 0 0 39 11 28.2 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 33674604 T G - - - - - - 36 0 0 29 7 24.1 48 13 27.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.932301741 0.932301741 1 1.207126949 1.207126949 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 2E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 34109959 C T CSMD2 CCDS380.1 r.? - - intronic 28 0 0 38 10 26.3 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 34281377 A G CSMD2 CCDS380.1 r.? - - intronic 42 0 0 41 9 22 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 34518604 G T CSMD2 CCDS380.1 r.? - - intronic 37 0 0 50 10 20 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 8.36E-14 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 34914332 C T - - - - - - 27 0 0 47 15 31.9 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.234042553 1.234042553 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.97E-23 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 34921308 G T - - - - - - 33 0 0 44 10 22.7 50 14 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 4.84E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 35439598 G A - - - - - - 35 0 0 35 8 22.9 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 35534288 C G ZMYM1 ENST00000417119 r.? - - intronic 34 0 0 42 9 21.4 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 35603366 G T - - - - - - 27 0 0 40 11 27.5 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 36107720 C T PSMB2 CCDS394.1 r.? - - upstream 40 0 0 38 11 28.9 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 36126073 G A - - - - - - 23 0 0 40 17 42.5 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.64410058 0.82205029 2 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 6.07E-29 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 36174969 G A C1orf216 CCDS395.1 r.? - - downstream 22 0 0 38 7 18.4 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 36395893 C A EIF2C3 CCDS399.1 r.? - - upstream 31 0 0 52 11 21.2 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-15 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 36588234 T G COL8A2 CCDS403.1 r.? - - intronic 27 0 0 34 9 26.5 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 36734745 G T THRAP3 CCDS405.1 r.? - - intronic 23 0 0 42 13 31 44 18 40.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 1.821826281 0.91091314 2 NA NA 1 NA NA 1 5 NA 1 1 2.72E-20 1 3.47E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 37162555 C T - - - - - - 33 0 0 24 7 29.2 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.12959381 1.12959381 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 37220144 G A - - - - - - 37 0 0 31 7 22.6 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 37315803 C T GRIK3 CCDS416.1 r.? - - intronic 29 0 0 45 9 20 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.300668151 1.300668151 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-12 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 37438702 C A GRIK3 CCDS416.1 r.? - - intronic 26 0 0 39 9 23.1 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 37646800 A T - - - - - - 34 0 0 40 7 17.5 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.676982592 0.676982592 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 37712294 T C - - - - - - 25 0 0 33 11 33.3 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 37768748 C T - - - - - - 35 0 0 42 12 28.6 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 37793096 C A - - - - - - 27 0 0 57 8 14 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.541586074 0.541586074 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-10 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 38139196 C T - - - - - - 29 0 0 40 8 20 50 13 26 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.158129176 1.158129176 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 3.65E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 38295824 T A MTF1 CCDS30676.1 r.? - - intronic 38 0 0 35 7 20 35 4 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.5077951 0.5077951 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 38402469 C T INPP5B CCDS41306.1 r.? - - intronic 20 0 0 37 10 27 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 38628464 A T - - - - - - 41 0 0 35 14 40 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.547388781 0.773694391 2 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-23 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 38669216 G T - - - - - - 27 0 0 30 12 40 40 19 47.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.547388781 1.547388781 1 2.115812918 1.057906459 2 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 2.27E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 38747791 C T - - - - - - 43 0 0 33 8 24.2 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 39035858 T C - - - - - - 25 0 0 38 11 28.9 18 2 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 0.003626632 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 39059753 C A - - - - - - 36 0 0 41 10 24.4 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 39366072 T A RHBDL2 CCDS30680.1 r.? - - intronic 33 0 0 32 5 15.6 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000562 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 39527698 G T - - - - - - 29 0 0 45 14 31.1 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.203094778 1.203094778 1 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 39798354 A G MACF1 CCDS436.1 r.1545a>g c.1414A>G p.S472G missense 44 0 0 38 11 28.9 41 9 22 205 1 0.5 105 14 13.3 61 4 6.6 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.979955457 0.979955457 1 0.51450677 0.51450677 1 0.293986637 0.293986637 1 5 5 1 0.642124842 5.19E-17 3.66E-16 5.92E-13 0.000259828 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 1 40042437 G A PABPC4 CCDS44114.1 r.85c>u c.? p.? 5'UTR variant 28 0 0 26 11 42.3 2 1 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.636363636 0.818181818 2 2.227171492 2.227171492 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 0.009975 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 40185855 T A - - - - - - 33 0 0 35 14 40 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.547388781 0.773694391 2 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-23 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 40423150 G T MFSD2A CCDS44118.1 r.? - - intronic 25 0 0 47 10 21.3 45 12 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.823984526 0.823984526 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 6.03E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 40570550 C A - - - - - - 33 0 0 31 11 35.5 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.373307544 1.373307544 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 40689534 C G RLF CCDS448.1 r.? - - intronic 33 0 0 36 11 30.6 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 40918778 G A ZNF643 CCDS452.1 r.? - - intronic 25 0 0 39 10 25.6 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 41271890 G A KCNQ4 CCDS456.1 r.? - - intronic 34 0 0 47 14 29.8 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.152804642 1.152804642 1 1.438752784 1.438752784 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 41752896 C T - - - - - - 22 0 0 38 12 31.6 45 12 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 6.03E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 41865639 A C - - - - - - 32 0 0 52 16 30.8 51 10 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 0.873051225 0.873051225 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-24 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 42027676 G A HIVEP3 CCDS44124.1 r.? - - intronic 29 0 0 25 8 32 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.237911025 1.237911025 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 42081369 A G HIVEP3 CCDS44124.1 r.? - - intronic 21 0 0 27 10 37 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.431334623 1.431334623 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 43212384 G C LEPRE1 CCDS472.2 r.2247c>g c.2195C>G p.P732R missense 29 0 0 30 9 30 33 12 36.4 203 0 0 208 37 17.8 2 0 0 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.621380846 0.810690423 2 0.688588008 0.688588008 1 0 0 1 5 5 1 1 2.54E-14 4.46E-45 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 43502346 G T - - - - - - 28 0 0 44 13 29.5 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 43993543 C G PTPRF CCDS489.2 r.? - - upstream 48 0 0 44 8 18.2 37 14 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 1.683741648 0.841870824 2 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 44010899 G A PTPRF CCDS489.2 r.? - - intronic 30 0 0 35 11 31.4 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 44027050 C G PTPRF CCDS489.2 r.? - - intronic 28 0 0 47 12 25.5 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 44290931 C G ST3GAL3 CCDS493.1 r.? - - intronic 43 0 0 30 10 33.3 49 12 24.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.091314031 1.091314031 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 45045115 T G RNF220 CCDS510.1 r.? - - intronic 26 1 3.8 39 13 33.3 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 0.122190858 1 8.79E-21 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 46487658 G A MAST2 CCDS41326.1 r.1610g>a c.1327G>A p.A443T missense 24 0 0 44 9 20.5 37 7 18.9 311 1 0.3 184 60 32.6 11 1 9.1 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.841870824 0.841870824 1 1.261121857 1.261121857 1 0.405345212 0.405345212 1 5 5 1 0.789632759 1.18E-12 8.37E-90 7.05E-10 0.05364542 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 46788123 C T - - - - - - 25 0 0 50 11 22 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 46811667 A C NSUN4 CCDS534.1 r.? - - intronic 20 0 0 32 4 12.5 28 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000201 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 47466005 A T - - - - - - 25 0 0 46 6 13 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.502901354 0.502901354 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 47477328 C A - - - - - - 34 0 0 36 8 22.2 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 47801627 G C CMPK1 CCDS549.1 r.? - - intronic 24 0 0 35 5 14.3 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.659242762 0.659242762 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 47858310 G A - - - - - - 28 0 0 34 5 14.7 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.568665377 0.568665377 1 1.011135857 1.011135857 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 48123057 T G - - - - - - 34 0 0 52 11 21.2 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 3.264793578 2 2 0 1 1 0.735206422 NA 3 NA 1 NA 0.264793578 0.820116054 0.820116054 1 0.71489207 0.71489207 1 NA NA 0 NA NA 1 5 NA 1 1 2.44E-15 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 48259467 G C - - - - - - 42 1 2.4 52 14 26.9 53 12 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.35054937 1.35054937 1 1.292524863 1.292524863 1 NA NA 0 NA NA 1 5 NA 0.189842622 1 9.04E-21 1 5.39E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 48268819 T A - - - - - - 19 0 0 43 12 27.9 39 13 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.400755667 1.400755667 1 1.904472475 0.952236238 2 NA NA 0 NA NA 1 5 NA 1 1 3.24E-18 1 8.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 48528548 G A - - - - - - 31 0 0 44 11 25 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.255157407 1.255157407 1 1.223895224 1.223895224 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 48687528 C G SLC5A9 CCDS44136.1 r.? - - upstream 27 0 0 41 9 22 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.104538519 1.104538519 1 1.515571189 1.515571189 1 NA NA 1 NA NA 0 5 NA 1 1 5.92E-13 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 48873653 A G SPATA6 CCDS551.1 r.? - - intronic 42 0 0 51 12 23.5 39 15 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.179847963 1.179847963 1 2.201867577 0.972215569 2.264793578 NA NA 1 NA NA 1 5 NA 1 1 3.24E-17 1 6.85E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 48957792 T A - - - - - - 32 0 0 46 12 26.1 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.310384333 1.310384333 1 0.995129762 0.995129762 1 NA NA 0 NA NA 1 5 NA 1 1 8.12E-18 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 49023839 G T AGBL4 CCDS44137.1 r.? - - intronic 41 0 0 39 5 12.8 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.642640593 0.642640593 1 1.46409896 1.46409896 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000156 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 49048996 C G AGBL4 CCDS44137.1 r.? - - intronic 34 0 0 46 9 19.6 55 8 14.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.984043407 0.984043407 1 0.829274802 0.829274802 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 3.86E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 49485057 C A AGBL4 CCDS44137.1 r.? - - intronic 29 0 0 51 9 17.6 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.883630815 0.883630815 1 0.955095806 0.955095806 1 NA NA 1 NA NA 0 5 NA 1 1 4.92E-12 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 49552518 A G AGBL4 CCDS44137.1 r.? - - intronic 23 0 0 59 16 27.1 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.36059063 1.36059063 1 0.955095806 0.955095806 1 NA NA 1 NA NA 1 5 NA 1 1 1.37E-23 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 49705813 C T AGBL4 CCDS44137.1 r.? - - intronic 37 0 0 42 11 26.2 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.315404963 1.315404963 1 1.395469321 1.395469321 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 49895924 T A AGBL4 CCDS44137.1 r.? - - intronic 39 0 0 53 9 17 47 11 23.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.853507037 0.853507037 1 1.338277956 1.338277956 1 NA NA 1 NA NA 1 5 NA 1 1 7.1E-12 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 49969396 C A AGBL4 CCDS44137.1 r.? - - intronic 32 0 0 42 12 28.6 55 11 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.435900074 1.435900074 1 1.143827313 1.143827313 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 50132686 C T AGBL4 CCDS44137.1 r.? - - intronic 36 0 0 50 10 20 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.004125926 1.004125926 1 1.023725445 1.023725445 1 NA NA 1 NA NA 1 5 NA 1 1 8.36E-14 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 50555192 A C - - - - - - 38 0 0 59 7 11.9 52 9 17.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.597454926 0.597454926 1 0.989410625 0.989410625 1 NA NA 1 NA NA 1 5 NA 1 1 2.12E-08 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 50655877 G C ELAVL4 CCDS44140.1 r.? - - intronic 36 0 0 45 7 15.6 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.783218222 0.783218222 1 1.040882854 1.040882854 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000003 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 51046732 C T FAF1 CCDS554.1 r.? - - intronic 31 0 0 49 10 20.4 54 9 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.024208444 1.024208444 1 0.955095806 0.955095806 1 NA NA 1 NA NA 0 5 NA 1 1 6.72E-14 1 8.48E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 51341831 G T FAF1 CCDS554.1 r.? - - intronic 43 0 0 47 13 27.7 54 14 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.390714407 1.390714407 1 1.48125637 1.48125637 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-19 1 1.64E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 51648566 A C - - - - - - 25 0 0 64 10 15.6 57 9 15.8 74 0 0 72 19 26.4 32 14 43.8 TRUE TRUE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.783218222 0.783218222 1 0.903623577 0.903623577 1 1.325446222 1.325446222 1 2.504981814 1.106053037 2.264793578 5 4 1 1 1.16E-12 1.75E-27 1.42E-11 2.65E-24 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 1 51648579 G T - - - - - - 27 0 0 60 10 16.7 53 10 18.9 82 0 0 75 19 25.3 33 14 42.4 TRUE TRUE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.838445148 0.838445148 1 1.08091681 1.08091681 1 1.270219296 1.270219296 1 2.424913903 1.070699743 2.264793578 5 6 1 1 5.86E-13 4.19E-27 1.57E-13 4.57E-24 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 1 51667930 G A - - - - - - 21 0 0 35 9 25.7 39 14 35.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.290301815 1.290301815 1 2.053170026 1.026585013 2 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 52009485 A C - - - - - - 24 0 0 50 10 20 53 10 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.004125926 1.004125926 1 1.08091681 1.08091681 1 NA NA 1 NA NA 0 5 NA 1 1 8.36E-14 1 1.57E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 52067263 C A OSBPL9 ENST00000371714 r.? - - intronic 28 0 0 53 10 18.9 59 12 20.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.948899 0.948899 1 1.160984722 1.160984722 1 NA NA 1 NA NA 1 5 NA 1 1 1.57E-13 1 2.2E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 52067264 C T OSBPL9 ENST00000371714 r.? - - intronic 27 0 0 53 10 18.9 62 12 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.948899 0.948899 1 1.109512493 1.109512493 1 NA NA 1 NA NA 1 5 NA 1 1 1.57E-13 1 4.19E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 52117028 A T OSBPL9 CCDS44145.1 r.? - - intronic 27 0 0 31 8 25.8 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.295322444 1.295322444 1 0.869308758 0.869308758 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 52242154 G C OSBPL9 CCDS44145.1 r.? - - intronic 34 0 0 49 13 26.5 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.330466852 1.330466852 1 0.91506185 0.91506185 1 NA NA 1 NA NA 1 5 NA 1 1 2.71E-19 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 52389889 G C RAB3B CCDS560.1 r.? - - intronic 31 0 0 51 11 21.6 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.084456 1.084456 1 1.675707013 0.837853506 2 NA NA 0 NA NA 0 5 NA 1 1 1.94E-15 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 52453496 A T RAB3B CCDS560.1 r.? - - intronic 33 0 0 54 6 11.1 48 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.557289889 0.557289889 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000329 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 52538319 A G BTF3L4 CCDS30713.1 r.? - - intronic 25 0 0 39 7 17.9 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.898692704 0.898692704 1 0.840713075 0.840713075 1 NA NA 1 NA NA 0 5 NA 1 1 1.04E-09 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 52775966 G C ZFYVE9 CCDS563.1 r.? - - intronic 32 0 0 54 11 20.4 47 11 23.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.024208444 1.024208444 1 1.338277956 1.338277956 1 NA NA 1 NA NA 1 5 NA 1 1 3.84E-15 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 52791796 G A ZFYVE9 CCDS563.1 r.? - - intronic 42 0 0 66 15 22.7 44 13 29.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.139682926 1.139682926 1 1.687145286 0.843572643 2 NA NA 1 NA NA 1 5 NA 1 1 6.45E-21 1 5.49E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 52996358 C G ZCCHC11 CCDS30716.1 r.? - - intronic 34 0 0 47 5 10.6 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.532186741 0.532186741 1 1.120950766 1.120950766 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000402 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 53054403 C A - - - - - - 39 0 0 48 10 20.8 56 8 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.044290963 1.044290963 1 0.817836528 0.817836528 1 NA NA 1 NA NA 1 5 NA 1 1 5.37E-14 1 4.48E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 53304311 T C ZYG11A CCDS44148.1 r.? - - upstream 33 0 0 43 11 25.6 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.285281185 1.285281185 1 0.995129762 0.995129762 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 53477928 G A SCP2 CCDS572.1 r.? - - intronic 35 0 0 49 7 14.3 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.717950037 0.717950037 1 0.663419841 0.663419841 1 NA NA 1 NA NA 1 5 NA 1 1 5.58E-09 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 53681546 C T CPT2 CCDS575.1 r.? - - downstream 42 0 0 54 11 20.4 49 14 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.024208444 1.024208444 1 1.635673057 0.817836528 2 NA NA 1 NA NA 0 5 NA 1 1 3.84E-15 1 3.5E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 53930889 C G DMRTB1 CCDS581.1 r.? - - intronic 29 0 0 36 13 36.1 40 3 7.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.812447296 0.980845212 1.847842324 0.428935242 0.428935242 1 NA NA 1 NA NA 1 5 NA 1 1 2.53E-21 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 54195115 G T GLIS1 CCDS582.1 r.? - - intronic 25 0 0 50 11 22 46 13 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.104538519 1.104538519 1 1.618515647 0.809257824 2 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 54643380 G T CYB5RL CCDS44151.1 r.? - - intronic 34 0 0 56 23 41.1 50 21 42 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 2.063478778 1.031739389 2 2.402037356 1.060598802 2.264793578 NA NA 0 NA NA 1 5 NA 1 1 3.22E-38 1 2.79E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 54656746 C T CYB5RL CCDS44151.1 r.? - - intronic 32 0 0 51 13 25.5 44 4 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.280260556 1.280260556 1 0.520441427 0.520441427 1 NA NA 1 NA NA 0 5 NA 1 1 4.87E-19 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 55313712 G A DHCR24 CCDS600.1 r.? - - downstream 44 0 0 42 8 19 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.95391963 0.95391963 1 1.366873638 1.366873638 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 55404205 C T - - - - - - 38 0 0 58 16 27.6 60 9 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.385693778 1.385693778 1 0.857870484 0.857870484 1 NA NA 1 NA NA 0 5 NA 1 1 1E-23 1 2.29E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 55406757 C G - - - - - - 29 0 0 50 11 22 52 9 17.3 231 0 0 108 24 22.2 38 12 31.6 TRUE TRUE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.104538519 1.104538519 1 0.989410625 0.989410625 1 1.114579778 1.114579778 1 1.807247154 0.903623577 2 5 6 1 1 1.52E-15 2.56E-32 5.92E-12 5.86E-19 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 1 55406931 G T - - - - - - 26 0 0 51 7 13.7 53 7 13.2 49 0 0 41 11 26.8 10 5 50 TRUE TRUE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.687826259 0.687826259 1 0.754926026 0.754926026 1 1.345528741 1.345528741 1 2.859568281 1.262617622 2.264793578 5 4 1 1 7.46E-09 1.34E-16 9.85E-09 7.71E-10 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 55433094 G T - - - - - - 22 0 0 51 10 19.6 48 15 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.984043407 0.984043407 1 1.784370608 0.892185304 2 NA NA 1 NA NA 0 5 NA 1 1 1.04E-13 1 2.86E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 55441974 G C TMEM61 CCDS601.1 r.? - - upstream 36 0 0 63 12 19 58 20 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.95391963 0.95391963 1 1.973102114 0.986551057 2 NA NA 1 NA NA 1 5 NA 1 1 5.15E-16 1 1.47E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 55573416 G A USP24 CCDS44154.1 r.? - - intronic 20 0 0 31 12 38.7 66 9 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.942983667 0.971491833 2 0.777802573 0.777802573 1 NA NA 0 NA NA 1 5 NA 1 1 3.16E-20 1 5.59E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 56176422 T C - - - - - - 27 0 0 45 9 20 53 13 24.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.004125926 1.004125926 1 1.401188458 1.401188458 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-12 1 8.53E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 56328848 G A - - - - - - 23 0 0 43 6 14 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.702888148 0.702888148 1 1.08091681 1.08091681 1 NA NA 0 NA NA 1 5 NA 1 1 8.13E-08 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 56802752 C A - - - - - - 26 0 0 56 7 12.5 59 11 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.627578704 0.627578704 1 1.063759401 1.063759401 1 NA NA 1 NA NA 0 5 NA 1 1 1.46E-08 1 1.1E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 56962996 A C PPAP2B CCDS604.1 r.? - - intronic 37 0 0 57 10 17.5 55 6 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.878610185 0.878610185 1 0.623385885 0.623385885 1 NA NA 0 NA NA 0 5 NA 1 1 3.4E-13 1 0.000000367 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 57383943 T C C8A CCDS606.1 r.? - - downstream 35 0 0 39 9 23.1 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.159765444 1.159765444 1 1.218176088 1.218176088 1 NA NA 1 NA NA 0 5 NA 1 1 3.62E-13 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 57501309 C T DAB1 CCDS607.1 r.? - - intronic 39 0 0 48 6 12.5 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.627578704 0.627578704 1 0.817836528 0.817836528 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000016 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 57565891 A T DAB1 CCDS607.1 r.? - - intronic 38 0 0 45 5 11.1 54 10 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.557289889 0.557289889 1 1.058040264 1.058040264 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000323 1 1.91E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 57670959 C G DAB1 CCDS607.1 r.? - - intronic 28 0 0 31 9 29 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.455982593 1.455982593 1 1.669987876 1.669987876 1 NA NA 0 NA NA 1 5 NA 1 1 3.57E-14 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 57979273 A T DAB1 CCDS607.1 r.? - - intronic 31 0 0 38 11 28.9 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.450961963 1.450961963 1 1.595639101 1.595639101 1 NA NA 1 NA NA 0 5 NA 1 1 5.19E-17 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 58017483 A T DAB1 CCDS607.1 r.? - - intronic 38 0 0 43 9 20.9 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.049311593 1.049311593 1 1.063759401 1.063759401 1 NA NA 1 NA NA 0 5 NA 1 1 9.45E-13 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 58087396 G C DAB1 CCDS607.1 r.? - - intronic 28 0 0 46 9 19.6 55 9 16.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.984043407 0.984043407 1 0.937938396 0.937938396 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 1.01E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 58255144 G A DAB1 CCDS607.1 r.? - - intronic 25 0 0 58 14 24.1 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.209971741 1.209971741 1 0.909342713 0.909342713 1 NA NA 1 NA NA 1 5 NA 1 1 5.04E-20 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 58382721 C T DAB1 CCDS607.1 r.? - - intronic 30 0 0 47 7 14.9 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.748073815 0.748073815 1 0.903623577 0.903623577 1 NA NA 1 NA NA 1 5 NA 1 1 4.12E-09 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 58529421 G T DAB1 CCDS607.1 r.? - - intronic 35 0 0 44 10 22.7 52 7 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 1.139682926 1.139682926 1 0.772083436 0.772083436 1 NA NA 1 NA NA 0 5 NA 1 1 2.08E-14 1 8.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 58880841 G A - - - - - - 28 0 0 60 10 16.7 42 5 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.838445148 0.838445148 1 0.680577251 0.680577251 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-13 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 58880842 C T - - - - - - 27 0 0 60 10 16.7 42 5 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.838445148 0.838445148 1 0.680577251 0.680577251 1 NA NA 0 NA NA 1 5 NA 1 1 5.86E-13 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 58880843 A T - - - - - - 28 0 0 57 10 17.5 42 5 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.878610185 0.878610185 1 0.680577251 0.680577251 1 NA NA 0 NA NA 1 5 NA 1 1 3.4E-13 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 60191739 A T FGGY CCDS44155.1 r.? - - intronic 50 0 0 61 11 18 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.903713333 0.903713333 1 1.063759401 1.063759401 1 NA NA 1 NA NA 1 5 NA 1 1 1.62E-14 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 60291187 C A HOOK1 ENST00000371208 r.? - - intronic 45 0 0 52 7 13.5 57 9 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 0.816021527 0.816021527 1 1.019786192 1.019786192 1 NA NA 1 NA NA 1 5 NA 1 1 8.58E-09 1 1.42E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 60512358 C A C1orf87 CCDS614.1 r.? - - intronic 27 0 0 47 9 19.1 47 7 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 1.154519346 1.154519346 1 0.961697105 0.961697105 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-12 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 60576235 C A - - - - - - 47 0 0 66 18 27.3 49 14 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 1.650176866 0.904767683 1.823868047 1.845942094 0.922971047 2 NA NA 0 NA NA 1 5 NA 1 1 2.08E-26 1 3.5E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 60721791 G T - - - - - - 28 0 0 63 17 27 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 1.632043055 0.894825181 1.823868047 1.052057906 1.052057906 1 NA NA 1 NA NA 1 5 NA 1 1 6.22E-25 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 60912159 G A - - - - - - 33 0 0 60 9 15 51 10 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 0.906690586 0.906690586 1 1.265051225 1.265051225 1 NA NA 1 NA NA 1 5 NA 1 1 2.29E-11 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 61001567 A G - - - - - - 35 0 0 56 23 41.1 40 21 52.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 2.484332206 0.879762143 2.823868047 3.388530067 1.129510022 3 NA NA 1 NA NA 0 5 NA 1 1 3.22E-38 1 5.72E-38 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 61251098 G T - - - - - - 34 0 0 53 18 34 55 10 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 2.055165328 1.027582664 2 1.174690423 1.174690423 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-28 1 2.33E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 61503477 T A NFIA ENST00000371191 r.? - - intronic 49 0 0 54 15 27.8 65 11 16.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 1.680399886 0.921338519 1.823868047 1.090783964 1.090783964 1 NA NA 1 NA NA 1 5 NA 1 1 2.2E-22 1 3.41E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 61503521 A T NFIA ENST00000371191 r.? - - intronic 41 0 0 60 13 21.7 60 10 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 1.311679048 1.311679048 1 1.077875278 1.077875278 1 NA NA 1 NA NA 0 5 NA 1 1 5.07E-18 1 5.86E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 61531601 A C NFIA ENST00000371191 r.? - - intronic 29 0 0 62 9 14.5 52 10 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 0.876467566 0.876467566 1 1.239233853 1.239233853 1 NA NA 1 NA NA 1 5 NA 1 1 3.12E-11 1 1.28E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 61600060 C T NFIA CCDS44156.1 r.? - - intronic 41 0 0 61 12 19.7 59 11 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 1.19078697 1.19078697 1 1.200507795 1.200507795 1 NA NA 1 NA NA 1 5 NA 1 1 3.39E-16 1 1.1E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 61626548 G A NFIA CCDS44156.1 r.? - - intronic 36 0 0 55 17 30.9 73 26 35.6 1 0 0 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 1.867782607 1.024077707 1.823868047 2.297746102 1.148873051 2 NA NA 1 NA NA 1 5 NA 1 1 4.35E-26 1 5.09E-41 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 61801497 A G NFIA CCDS44156.1 r.? - - intronic 35 0 0 56 19 33.9 59 15 25.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 2.049120724 1.024560362 2 1.639403118 0.819701559 2 NA NA 1 NA NA 1 5 NA 1 1 6.79E-30 1 9.9E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 62181581 C T TM2D1 ENST00000371180 r.? - - intronic 24 0 0 54 18 33.3 52 10 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 2.012853101 1.00642655 2 1.239233853 1.239233853 1 NA NA 1 NA NA 1 5 NA 1 1 3.12E-28 1 1.28E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 62428035 G A INADL CCDS617.2 r.? - - intronic 42 0 0 72 14 19.4 73 10 13.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 1.172653158 1.172653158 1 0.884244989 0.884244989 1 NA NA 0 NA NA 0 5 NA 1 1 1.39E-18 1 4.56E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 62513408 A T INADL CCDS617.2 r.? - - intronic 32 0 0 49 15 30.6 54 18 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 1.849648795 1.014135205 1.823868047 2.149296214 1.074648107 2 NA NA 1 NA NA 0 5 NA 1 1 4.1E-23 1 3.12E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 62648860 T G - - - - - - 40 0 0 59 15 25.4 65 9 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 1.535329392 0.841798503 1.823868047 0.890699332 0.890699332 1 NA NA 0 NA NA 0 5 NA 1 1 9.9E-22 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 62739901 G C KANK4 CCDS620.1 r.1254c>g c.875C>G p.P292R missense 28 0 0 57 5 8.8 45 6 13.3 201 0 0 246 39 15.9 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 0.531925144 0.531925144 1 0.858427617 0.858427617 1 0.961092021 0.961092021 1 NA NA 0 5 NA 1 1 0.0000105 2.37E-45 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 62926885 C A DOCK7 CCDS30734.1 r.? - - intronic 27 0 0 57 11 19.3 62 7 11.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 1.166608554 1.166608554 1 0.729340757 0.729340757 1 NA NA 1 NA NA 0 5 NA 1 1 7.29E-15 1 3.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 62990584 C G DOCK7 CCDS30734.1 r.? - - intronic 31 0 0 50 8 16 43 2 4.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 0.967136625 0.967136625 1 0.30335412 0.30335412 1 NA NA 1 NA NA 0 5 NA 1 1 1.74E-10 1 0.019709573 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 63102482 A G DOCK7 CCDS30734.1 r.? - - intronic 35 0 0 58 10 17.2 57 10 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 1.039671872 1.039671872 1 1.129510022 1.129510022 1 NA NA 1 NA NA 1 5 NA 1 1 4.1E-13 1 3.4E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 63150376 T A DOCK7 CCDS30734.1 r.? - - intronic 30 0 0 57 7 12.3 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 0.74348628 0.74348628 1 0.981060134 0.981060134 1 NA NA 1 NA NA 1 5 NA 1 1 1.66E-08 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 63196040 T A - - - - - - 29 0 0 66 20 30.3 68 23 33.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 1.831514984 1.004192703 1.823868047 2.181567929 1.090783964 2 NA NA 1 NA NA 1 5 NA 1 1 3.11E-30 1 7.7E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 63621949 G T - - - - - - 41 0 0 73 15 20.5 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 1.239143801 1.239143801 1 1.161781737 1.161781737 1 NA NA 0 NA NA 1 5 NA 1 1 3.38E-20 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 64072221 A T PGM1 CCDS625.1 r.? - - intronic 28 0 0 60 8 13.3 52 5 9.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 0.80393232 0.80393232 1 0.619616927 0.619616927 1 NA NA 1 NA NA 0 5 NA 1 1 7.93E-10 1 0.00000668 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 64081379 C A PGM1 CCDS625.1 r.? - - intronic 34 0 0 48 9 18.8 53 10 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 1.136385534 1.136385534 1 1.219870824 1.219870824 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 1.57E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 64296455 C G ROR1 CCDS626.1 r.? - - intronic 27 0 0 42 16 38.1 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 2.302994088 1.151497044 2 1.342503341 1.342503341 1 NA NA 1 NA NA 0 5 NA 1 1 2.25E-26 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 64353251 T C ROR1 CCDS626.1 r.? - - intronic 34 0 0 52 7 13.5 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 0.816021527 0.816021527 1 0.877790646 0.877790646 1 NA NA 1 NA NA 0 5 NA 1 1 8.58E-09 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 64535255 A T ROR1 CCDS626.1 r.? - - intronic 38 0 0 56 9 16.1 66 11 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 0.973181229 0.973181229 1 1.077875278 1.077875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-11 1 4.07E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 64555996 C A ROR1 CCDS626.1 r.? - - intronic 32 0 0 58 12 20.7 65 14 21.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 1.251233009 1.251233009 1 1.387683742 1.387683742 1 NA NA 1 NA NA 1 5 NA 1 1 1.76E-16 1 2.93E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 64645642 T A ROR1 CCDS626.1 r.4293u>a c.? p.? 3'UTR variant 43 0 0 37 5 13.5 43 0 0 133 0 0 121 10 8.3 529 0 0 TRUE TRUE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 0.816021527 0.816021527 1 0 0 1 0.501702124 0.501702124 1 0 0 1 3 3 1 1 0.00000119 7.46E-10 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9776b 1 65205488 C T - - - - - - 30 0 0 48 14 29.2 57 12 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.356544286 1.356544286 1 1.15086637 1.15086637 1 NA NA 0 NA NA 1 5 NA 1 1 2.51E-21 1 1.4E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 65562646 A T AC099680.1 ENST00000500320 r.? - - intronic 32 0 0 59 12 20.3 58 15 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.943077021 0.943077021 1 1.412674833 1.412674833 1 NA NA 0 NA NA 1 5 NA 1 1 2.2E-16 1 7.42E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 65676565 A G AK3L2 CCDS629.1 r.? - - intronic 26 0 0 51 8 15.7 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.729374839 0.729374839 1 0.681792873 0.681792873 1 NA NA 0 NA NA 1 5 NA 1 1 2.05E-10 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 65821825 A T DNAJC6 CCDS30739.1 r.? - - intronic 24 0 0 41 12 29.3 49 11 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.361189986 1.361189986 1 1.221772829 1.221772829 1 NA NA 0 NA NA 1 5 NA 1 1 1.69E-18 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 65972177 A C LEPR CCDS631.1 r.? - - intronic 39 0 0 45 11 24.4 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.133550705 1.133550705 1 0.725427617 0.725427617 1 NA NA 0 NA NA 1 5 NA 1 1 4.24E-16 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 66196433 A G - - - - - - 38 0 0 32 7 21.9 57 12 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.017408215 1.017408215 1 1.15086637 1.15086637 1 NA NA 0 NA NA 1 5 NA 1 1 2.36E-10 1 1.4E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 66342892 G T PDE4B CCDS632.1 r.? - - intronic 25 0 0 44 7 15.9 42 3 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.738666238 0.738666238 1 0.387258352 0.387258352 1 NA NA 0 NA NA 1 5 NA 1 1 2.55E-09 1 0.001240292 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 66405993 G A PDE4B CCDS632.1 r.? - - intronic 26 0 0 52 12 23.1 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.07315661 1.07315661 1 1.29813363 1.29813363 1 NA NA 0 NA NA 1 5 NA 1 1 4.19E-17 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 66434544 C A PDE4B CCDS632.1 r.? - - intronic 35 0 0 48 5 10.4 56 9 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.48315276 0.621636087 0.777227657 0.87814922 0.87814922 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000447 1 1.2E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 66567441 A T PDE4B CCDS632.1 r.? - - intronic 20 0 0 36 8 22.2 47 13 27.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.031345314 1.031345314 1 1.510853007 1.510853007 1 NA NA 0 NA NA 1 5 NA 1 1 1.04E-11 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 66674711 G C PDE4B CCDS632.1 r.? - - intronic 48 0 0 43 7 16.3 56 6 10.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.757249037 0.757249037 1 0.583614699 0.583614699 1 NA NA 0 NA NA 1 5 NA 1 1 2.15E-09 1 0.000000409 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 67377389 A T WDR78 CCDS635.1 r.? - - intronic 41 0 0 47 9 19.1 50 4 8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.887328626 0.887328626 1 0.436347439 0.436347439 1 NA NA 0 NA NA 1 5 NA 1 1 2.24E-12 1 0.000119787 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 67497073 C A SLC35D1 CCDS636.1 r.? - - intronic 46 0 0 55 13 23.6 50 10 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.096385108 1.096385108 1 1.090868597 1.090868597 1 NA NA 0 NA NA 1 5 NA 1 1 1.46E-18 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 67497074 C G SLC35D1 CCDS636.1 r.? - - intronic 46 0 0 56 13 23.2 51 11 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.07780231 1.07780231 1 1.178138085 1.178138085 1 NA NA 0 NA NA 1 5 NA 1 1 1.89E-18 1 1.94E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 67686307 T A IL23R CCDS637.1 r.? - - intronic 38 0 0 50 11 22 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.022053914 1.022053914 1 1.396311804 1.396311804 1 NA NA 0 NA NA 1 5 NA 1 1 1.52E-15 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 67764669 G T - - - - - - 25 0 0 35 15 42.9 42 18 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.993005133 1.1214124 1.777227657 2.33991314 1.16995657 2 NA NA 0 NA NA 1 5 NA 1 1 9.02E-26 1 1.2E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 67765492 T A - - - - - - 37 0 0 57 9 15.8 50 11 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.734020539 0.734020539 1 1.199955457 1.199955457 1 NA NA 0 NA NA 1 5 NA 1 1 1.42E-11 1 1.52E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 68031410 G C - - - - - - 28 0 0 42 7 16.7 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.775831835 0.775831835 1 1.069051225 1.069051225 1 NA NA 0 NA NA 1 5 NA 1 1 1.81E-09 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 68470637 G T - - - - - - 35 0 0 56 17 30.4 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.412292682 1.412292682 1 1.249044543 1.249044543 1 NA NA 0 NA NA 1 5 NA 1 1 6.22E-26 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 68492269 G T - - - - - - 37 0 0 54 9 16.7 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.775831835 0.775831835 1 0.698155902 0.698155902 1 NA NA 0 NA NA 1 5 NA 1 1 8.48E-12 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 68649478 C T WLS CCDS642.1 r.? - - intronic 31 0 0 51 8 15.7 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.729374839 0.729374839 1 0.970873051 0.970873051 1 NA NA 0 NA NA 1 5 NA 1 1 2.05E-10 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 68691128 C G WLS CCDS642.1 r.? - - intronic 26 0 0 47 15 31.9 56 16 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.481978176 1.481978176 1 1.559942094 0.779971047 2 NA NA 0 NA NA 1 5 NA 1 1 1.97E-23 1 5.26E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 68984374 G T - - - - - - 43 0 0 42 9 21.4 64 12 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.994179717 0.994179717 1 1.025416481 1.025416481 1 NA NA 0 NA NA 1 5 NA 1 1 7.51E-13 1 6.3E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 69000047 C A - - - - - - 42 0 0 49 9 18.4 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.854808728 0.854808728 1 0.758153675 0.758153675 1 NA NA 0 NA NA 1 5 NA 1 1 3.35E-12 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 69100137 G T - - - - - - 35 0 0 44 14 31.8 60 6 10 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.477332476 1.477332476 1 0.545434298 0.545434298 1 NA NA 0 0 0 1 5 NA 1 1 6.1E-22 1 0.000000621 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 69831462 G T - - - - - - 36 0 0 44 8 18.2 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.845517329 0.845517329 1 1.161775056 1.161775056 1 NA NA 0 NA NA 1 5 NA 1 1 5.9E-11 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 69859478 G C - - - - - - 25 0 0 34 10 29.4 52 5 9.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.365835686 1.365835686 1 0.523616927 0.523616927 1 NA NA 0 NA NA 1 5 NA 1 1 1.15E-15 1 0.00000668 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 69939610 A T - - - - - - 36 0 0 49 8 16.3 55 13 23.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.757249037 0.757249037 1 1.287224944 1.287224944 1 NA NA 0 NA NA 1 5 NA 1 1 1.47E-10 1 1.46E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 69945180 G T - - - - - - 30 0 0 50 11 22 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.022053914 1.022053914 1 0.910875278 0.910875278 1 NA NA 0 NA NA 1 5 NA 1 1 1.52E-15 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 70316799 A T LRRC7 CCDS645.1 r.? - - intronic 42 0 0 51 6 11.8 49 11 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.548192554 0.548192554 1 1.221772829 1.221772829 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000232 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 70643669 C T LRRC40 CCDS646.1 r.? - - intronic 47 0 0 55 15 27.3 41 3 7.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.268275994 1.268275994 1 0.398167038 0.398167038 1 NA NA 0 NA NA 1 5 NA 1 1 3.01E-22 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 70831315 G C HHLA3 CCDS30753.1 r.? - - intronic 28 0 0 37 6 16.2 54 5 9.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.752603337 0.752603337 1 0.507253898 0.507253898 1 NA NA 0 NA NA 1 5 NA 1 1 3.18E-08 1 0.00000806 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 71156752 C A - - - - - - 26 0 0 49 8 16.3 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.757249037 0.757249037 1 1.303587973 1.303587973 1 NA NA 0 NA NA 1 5 NA 1 1 1.47E-10 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 71570869 C G - - - - - - 43 0 0 55 6 10.9 47 4 8.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.506381258 0.651522437 0.777227657 0.463619154 0.463619154 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000367 1 0.0000939 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 71830993 A T - - - - - - 49 0 0 47 15 31.9 63 13 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.481978176 1.481978176 1 1.123594655 1.123594655 1 NA NA 0 NA NA 1 5 NA 1 1 1.97E-23 1 1.01E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 72123475 T A NEGR1 CCDS661.1 r.? - - intronic 40 0 0 43 13 30.2 57 11 19.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.403001282 1.403001282 1 1.052688196 1.052688196 1 NA NA 0 NA NA 1 5 NA 1 1 3.88E-20 1 7.29E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 72370812 T C NEGR1 CCDS661.1 r.? - - intronic 39 0 0 53 10 18.9 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.878037226 0.878037226 1 1.167229399 1.167229399 1 NA NA 0 NA NA 1 5 NA 1 1 1.57E-13 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 72671043 G C NEGR1 CCDS661.1 r.? - - intronic 36 0 0 44 11 25 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.161424903 1.161424903 1 0.954510022 0.954510022 1 NA NA 0 NA NA 1 5 NA 1 1 3.22E-16 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 73634480 C T - - - - - - 34 0 0 45 9 20 45 5 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.929139922 0.929139922 1 0.605432071 0.605432071 1 NA NA 0 NA NA 1 5 NA 1 1 1.47E-12 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 73696038 T G - - - - - - 31 0 0 30 9 30 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.393709883 1.393709883 1 1.134503341 1.134503341 1 NA NA 0 NA NA 1 5 NA 1 1 2.54E-14 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 73732249 A T - - - - - - 42 0 0 51 6 11.8 38 3 7.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.548192554 0.548192554 1 0.430893096 0.430893096 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000232 1 0.000925091 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 73950481 C A - - - - - - 31 0 0 52 7 13.5 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.627169447 0.627169447 1 1.04177951 1.04177951 1 NA NA 0 NA NA 1 5 NA 1 1 8.58E-09 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 74077785 T C - - - - - - 40 0 0 56 10 17.9 51 9 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.83158023 0.83158023 1 0.959964365 0.959964365 1 NA NA 0 NA NA 1 5 NA 1 1 2.82E-13 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 74128062 A T - - - - - - 35 0 0 47 8 17 53 11 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.789768934 0.789768934 1 1.134503341 1.134503341 1 NA NA 0 NA NA 1 5 NA 1 1 1.03E-10 1 3.07E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 74232305 G T - - - - - - 36 0 0 53 9 17 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.789768934 0.789768934 1 0.889057906 0.889057906 1 NA NA 0 NA NA 1 5 NA 1 1 7.1E-12 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 74261578 G A - - - - - - 30 0 0 33 6 18.2 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.845517329 0.845517329 1 0.725427617 0.725427617 1 NA NA 0 NA NA 1 5 NA 1 1 1.54E-08 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 74263160 C A - - - - - - 27 0 0 51 11 21.6 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.003471116 1.003471116 1 1.259953229 1.259953229 1 NA NA 0 NA NA 1 5 NA 1 1 1.94E-15 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 74263939 T C - - - - - - 36 0 0 55 13 23.6 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.096385108 1.096385108 1 0.741790646 0.741790646 1 NA NA 0 NA NA 1 5 NA 1 1 1.46E-18 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 74523743 C A LRRIQ3 CCDS41350.1 r.? - - intronic 42 0 0 58 15 25.9 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.203236199 1.203236199 1 0.910875278 0.910875278 1 NA NA 0 NA NA 1 5 NA 1 1 7.42E-22 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 74578364 G A LRRIQ3 CCDS41350.1 r.? - - intronic 25 0 0 47 18 38.3 44 20 45.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.779302951 1.001167714 1.777227657 2.481726058 1.240863029 2 NA NA 0 NA NA 1 5 NA 1 1 1.52E-29 1 1.5E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 74585503 G A LRRIQ3 CCDS41350.1 r.? - - intronic 40 0 0 47 7 14.9 60 7 11.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.692209242 0.692209242 1 0.638158129 0.638158129 1 NA NA 0 NA NA 1 5 NA 1 1 4.12E-09 1 2.39E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 74590073 G C LRRIQ3 CCDS41350.1 r.? - - intronic 33 0 0 48 5 10.4 35 4 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.48315276 0.621636087 0.777227657 0.6217951 0.6217951 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000447 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 74855782 G T TNNI3K CCDS44161.1 r.? - - intronic 40 0 0 44 7 15.9 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.738666238 0.738666238 1 0.763608018 0.763608018 1 NA NA 0 NA NA 1 5 NA 1 1 2.55E-09 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 74955429 T C TNNI3K CCDS44161.1 r.? - - intronic 38 0 0 47 8 17 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.789768934 0.789768934 1 0.872694878 0.872694878 1 NA NA 0 NA NA 1 5 NA 1 1 1.03E-10 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 75166230 C T CRYZ CCDS665.1 r.? - - downstream 33 0 0 45 10 22.2 38 3 7.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.031345314 1.031345314 1 0.430893096 0.430893096 1 NA NA 0 NA NA 1 5 NA 1 1 2.66E-14 1 0.000925091 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 75267129 T C - - - - - - 43 0 0 54 14 25.9 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.203236199 1.203236199 1 0.741790646 0.741790646 1 NA NA 0 NA NA 1 5 NA 1 1 1.64E-20 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 75491725 G A - - - - - - 37 0 0 52 17 32.7 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.519143773 0.854782879 1.777227657 1.036325167 1.036325167 1 NA NA 0 NA NA 1 5 NA 1 1 1.42E-26 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 75550569 T C - - - - - - 30 0 0 43 10 23.3 53 8 15.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.082448009 1.082448009 1 0.823605791 0.823605791 1 NA NA 0 NA NA 1 5 NA 1 1 1.61E-14 1 2.83E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 75696483 G A SLC44A5 CCDS667.1 r.? - - intronic 26 0 0 47 9 19.1 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.887328626 0.887328626 1 1.167229399 1.167229399 1 NA NA 0 NA NA 1 5 NA 1 1 2.24E-12 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 75741021 A T SLC44A5 CCDS667.1 r.? - - intronic 25 0 0 53 6 11.3 51 10 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.524964056 0.524964056 1 1.069051225 1.069051225 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000293 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 75895297 T A SLC44A5 CCDS667.1 r.? - - intronic 34 0 0 34 7 20.6 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.95701412 0.95701412 1 0.719973274 0.719973274 1 NA NA 0 NA NA 1 5 NA 1 1 3.73E-10 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 75982005 C A SLC44A5 CCDS667.1 r.? - - intronic 42 0 0 41 6 14.6 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.678272143 0.678272143 1 0.779971047 0.779971047 1 NA NA 0 NA NA 1 5 NA 1 1 6.05E-08 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 76055132 G C SLC44A5 CCDS667.1 r.? - - intronic 30 0 0 44 8 18.2 49 12 24.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.845517329 0.845517329 1 1.336314031 1.336314031 1 NA NA 0 NA NA 1 5 NA 1 1 5.9E-11 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 76120554 C G - - - - - - 27 0 0 38 10 26.3 48 9 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.221818998 1.221818998 1 1.025416481 1.025416481 1 NA NA 0 NA NA 1 5 NA 1 1 4.06E-15 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 76652482 C T ST6GALNAC3 CCDS672.1 r.? - - intronic 24 0 0 48 8 16.7 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.775831835 0.775831835 1 0.709064588 0.709064588 1 NA NA 0 NA NA 1 5 NA 1 1 1.23E-10 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 76689533 A C ST6GALNAC3 CCDS672.1 r.? - - intronic 25 0 0 55 14 25.5 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.184653401 1.184653401 1 0.796334076 0.796334076 1 NA NA 0 NA NA 1 5 NA 1 1 2.19E-20 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 77028906 C A ST6GALNAC3 CCDS672.1 r.? - - intronic 33 0 0 67 16 23.9 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.110322207 1.110322207 1 1.139957684 1.139957684 1 NA NA 0 NA NA 1 5 NA 1 1 1.35E-22 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 77122322 A G - - - - - - 44 0 0 56 7 12.5 56 12 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.580712451 0.580712451 1 1.167229399 1.167229399 1 NA NA 0 NA NA 1 5 NA 1 1 1.46E-08 1 1.11E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 77141948 G T - - - - - - 32 0 0 64 19 29.7 53 12 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.379772784 1.379772784 1 1.232681514 1.232681514 1 NA NA 0 NA NA 1 5 NA 1 1 1.34E-28 1 5.39E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 77238683 G A - - - - - - 33 0 0 45 14 31.1 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.444812579 1.444812579 1 1.303587973 1.303587973 1 NA NA 0 NA NA 1 5 NA 1 1 8.81E-22 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 77383681 G C ST6GALNAC5 CCDS673.1 r.? - - intronic 33 0 0 45 8 17.8 44 14 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.826934531 0.826934531 1 1.734481069 0.867240535 2 NA NA 0 NA NA 1 5 NA 1 1 7.14E-11 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 77586183 G T PIGK CCDS674.1 r.? - - intronic 27 0 0 52 7 13.5 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.627169447 0.627169447 1 1.069051225 1.069051225 1 NA NA 0 NA NA 1 5 NA 1 1 8.58E-09 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 78113438 C G ZZZ3 CCDS677.1 r.? - - intronic 39 0 0 34 8 23.5 36 3 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 1.091739409 1.091739409 1 0.452710468 0.452710468 1 NA NA 0 NA NA 1 5 NA 1 1 6.32E-12 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 78199755 G T USP33 CCDS679.1 r.? - - intronic 27 0 0 67 26 38.8 70 30 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 5.294782934 2 4 1 1 1 0.705217066 NA 5 NA 1 NA 0.294782934 1.888967118 0.944483559 2 3.324375019 1.008981498 3.294782934 NA NA 0 NA NA 1 5 NA 1 1 3.31E-42 1 4.25E-50 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 78579599 A G GIPC2 CCDS685.1 r.? - - intronic 30 0 0 73 10 13.7 65 16 24.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 5.294782934 2 4 1 1 1 0.705217066 NA 5 NA 1 NA 0.294782934 0.666980658 0.666980658 1 1.906284976 0.953142488 2 NA NA 0 NA NA 0 5 NA 1 1 4.56E-12 1 7.85E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 78623034 T G - - - - - - 35 0 0 52 24 46.2 58 21 36.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 5.294782934 2 4 1 1 1 0.705217066 NA 5 NA 1 NA 0.294782934 2.249234043 1.124617021 2 2.805183582 0.935061194 3 NA NA 0 NA NA 1 5 NA 1 1 2.22E-41 1 1.34E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 78681367 C G - - - - - - 24 0 0 56 5 8.9 79 2 2.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 5.294782934 2 4 1 1 1 0.705217066 NA 5 NA 1 NA 0.294782934 0.433294004 0.433294004 1 0.193728148 0.657189158 0.294782934 NA NA 0 NA NA 1 5 NA 1 1 0.00000965 1 0.059811146 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 78742932 C A - - - - - - 34 0 0 55 16 29.1 82 12 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 5.294782934 2 4 1 1 1 0.705217066 NA 5 NA 1 NA 0.294782934 1.416725338 1.416725338 1 1.131372384 1.131372384 1 NA NA 0 NA NA 1 5 NA 1 1 3.78E-24 1 1.46E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 79056344 T C AL136324.1 ENST00000513923 r.? - - intronic 32 0 0 57 7 12.3 49 11 22.4 0 0 NA 2 0 0 0 0 NA TRUE FALSE 3 5.294782934 2 4 1 1 1 0.705217066 NA 5 NA 1 NA 0.294782934 0.59882205 0.59882205 1 1.735804206 0.867902103 2 0 NA 0 NA NA 0 5 NA 1 1 1.66E-08 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 79109595 G T IFI44L CCDS687.2 r.? - - downstream 32 0 0 60 11 18.3 64 13 20.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 5.294782934 2 4 1 1 1 0.705217066 NA 5 NA 1 NA 0.294782934 0.890930368 0.890930368 1 1.573072561 1.573072561 1 NA NA 0 NA NA 0 5 NA 1 1 1.34E-14 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 79121290 T A IFI44 CCDS688.1 r.? - - intronic 41 0 0 65 12 18.5 78 18 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 5.294782934 2 4 1 1 1 0.705217066 NA 5 NA 1 NA 0.294782934 0.900667311 0.900667311 1 1.790048087 0.895024044 2 NA NA 0 NA NA 1 5 NA 1 1 7.7E-16 1 6.1E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 79833864 T A - - - - - - 32 0 0 54 13 24.1 58 12 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.173301741 1.173301741 1 1.129048998 1.129048998 1 NA NA 1 NA NA 1 5 NA 1 1 1.12E-18 1 1.76E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 79906384 G A - - - - - - 26 0 0 51 12 23.5 51 12 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.144090909 1.144090909 1 1.281770601 1.281770601 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-17 1 3.24E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 80057931 A C - - - - - - 35 0 0 47 8 17 51 14 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.827640232 0.827640232 1 1.499944321 1.499944321 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-10 1 6.64E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 80084279 G A - - - - - - 36 0 0 63 19 30.2 63 14 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.47027853 0.735139265 2 1.210864143 1.210864143 1 NA NA 1 NA NA 1 5 NA 1 1 9.48E-29 1 1.81E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 80098452 G C - - - - - - 41 0 0 36 5 13.9 55 11 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.676717602 0.676717602 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000104 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 80321591 G A - - - - - - 42 0 0 46 8 17.4 45 6 13.3 0 0 NA 1 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.84711412 0.84711412 1 0.725427617 0.725427617 1 0 0 1 NA NA 1 5 NA 1 1 8.61E-11 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 80626778 G A - - - - - - 34 0 0 49 10 20.4 39 4 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.993168279 0.993168279 1 0.561797327 0.561797327 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-14 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 80755307 T C - - - - - - 17 0 0 26 5 19.2 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.934746615 0.934746615 1 0.850877506 0.850877506 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000188 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 80956469 C A - - - - - - 45 0 0 46 12 26.1 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.27067118 1.27067118 1 0.93269265 0.93269265 1 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 81011453 T A - - - - - - 56 0 0 59 14 23.7 62 11 17.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.153827853 1.153827853 1 0.965418708 0.965418708 1 NA NA 1 NA NA 1 5 NA 1 1 6.58E-20 1 1.96E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 81085329 C T - - - - - - 34 0 0 49 10 20.4 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.993168279 0.993168279 1 1.04177951 1.04177951 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-14 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 81234148 A G - - - - - - 40 0 0 58 14 24.1 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.173301741 1.173301741 1 0.861786192 0.861786192 1 NA NA 1 NA NA 1 5 NA 1 1 5.04E-20 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 81264024 G C - - - - - - 34 0 0 57 11 19.3 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.939615087 0.939615087 1 0.829060134 0.829060134 1 NA NA 1 NA NA 1 5 NA 1 1 7.29E-15 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 81499478 G A - - - - - - 43 0 0 52 13 25 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 6.47E-19 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 81868481 C T LPHN2 ENST00000370728 r.? - - intronic 28 0 0 43 10 23.3 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.134353965 1.134353965 1 0.850877506 0.850877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 81921696 T A LPHN2 ENST00000370728 r.? - - intronic 37 0 0 45 10 22.2 46 5 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.080800774 1.080800774 1 0.594523385 0.594523385 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 82092461 C G LPHN2 ENST00000370728 r.? - - intronic 43 0 0 40 5 12.5 35 7 20 0 0 NA 2 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.608558994 0.608558994 1 1.090868597 1.090868597 1 0 0 1 NA NA 1 5 NA 1 1 0.00000178 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 82477080 G C - - - - - - 38 0 0 55 11 20 48 13 27.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 1.478126949 1.478126949 1 NA NA 1 NA NA 1 5 NA 1 1 4.77E-15 1 2E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 82761136 G A - - - - - - 34 0 0 67 14 20.9 49 11 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.017510638 1.017510638 1 1.221772829 1.221772829 1 NA NA 1 NA NA 1 5 NA 1 1 4.66E-19 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 82941153 G A - - - - - - 34 0 0 58 10 17.2 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.837377176 0.837377176 1 1.434492205 1.434492205 1 NA NA 1 NA NA 1 5 NA 1 1 4.1E-13 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 83107245 G T - - - - - - 38 0 0 60 9 15 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.730270793 0.730270793 1 1.363585746 1.363585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.29E-11 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 83138503 C T - - - - - - 44 0 0 54 9 16.7 49 7 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.813034816 0.813034816 1 0.779971047 0.779971047 1 NA NA 1 NA NA 1 5 NA 1 1 8.48E-12 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 83247354 T G - - - - - - 40 0 0 49 10 20.4 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.993168279 0.993168279 1 1.303587973 1.303587973 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-14 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 83255265 T G - - - - - - 35 0 0 66 16 24.2 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.178170213 1.178170213 1 1.199955457 1.199955457 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-22 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 83346617 G C - - - - - - 37 0 0 56 13 23.2 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.129485493 1.129485493 1 1.210864143 1.210864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-18 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 83443948 C G - - - - - - 30 0 0 58 10 17.2 56 12 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.837377176 0.837377176 1 1.167229399 1.167229399 1 NA NA 1 NA NA 1 5 NA 1 1 4.1E-13 1 1.11E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 83719647 A G - - - - - - 36 0 0 52 13 25 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.249044543 1.249044543 1 NA NA 1 NA NA 1 5 NA 1 1 6.47E-19 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 84172986 T A - - - - - - 36 0 0 48 9 18.8 60 10 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.915272727 0.915272727 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 5.86E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 84264504 C G - - - - - - 29 0 0 55 7 12.7 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.618295938 0.618295938 1 1.281770601 1.281770601 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-08 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 84318804 G C - - - - - - 35 0 0 54 5 9.3 46 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.452767892 0.452767892 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000806 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 84483170 A T - - - - - - 35 0 0 57 13 22.8 42 2 4.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.110011605 1.110011605 1 0.261808463 0.261808463 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 0.018854633 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 84673923 C G PRKACB CCDS691.1 r.? - - intronic 35 0 0 48 9 18.8 54 9 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.915272727 0.915272727 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 8.48E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 84737895 G T - - - - - - 45 0 0 60 8 13.3 54 6 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.64750677 0.64750677 1 0.605432071 0.605432071 1 NA NA 1 NA NA 1 5 NA 1 1 7.93E-10 1 0.000000329 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 84869666 G T DNASE2B CCDS44167.1 r.? - - intronic 24 0 0 42 10 23.8 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.158696325 1.158696325 1 1.063596882 1.063596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 84903676 G T - - - - - - 36 0 0 52 8 15.4 55 10 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.749744681 0.749744681 1 0.992690423 0.992690423 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-10 1 2.33E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 84909864 C G - - - - - - 33 0 0 55 6 10.9 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.530663443 0.530663443 1 1.15086637 1.15086637 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000367 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 84996569 A T SPATA1 CCDS44168.1 r.? - - intronic 34 0 0 49 12 24.5 53 7 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.192775629 1.192775629 1 0.719973274 0.719973274 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 9.85E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 85080883 G C - - - - - - 41 0 0 50 16 32 49 11 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.557911025 0.778955513 2 1.221772829 1.221772829 1 NA NA 1 NA NA 1 5 NA 1 1 6.4E-25 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 85219417 A G - - - - - - 41 0 0 41 7 17.1 28 2 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.832508704 0.832508704 1 0.387258352 0.387258352 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 85243542 T C - - - - - - 23 0 0 47 7 14.9 47 5 10.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.725402321 0.725402321 1 0.578160356 0.578160356 1 NA NA 1 NA NA 1 5 NA 1 1 4.12E-09 1 0.00000402 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 85349437 G C LPAR3 CCDS700.1 r.? - - intronic 21 0 0 44 10 22.7 52 13 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.105143133 1.105143133 1 1.363585746 1.363585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 6.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 85416734 T G MCOLN2 CCDS30762.1 r.? - - intronic 32 0 0 55 14 25.5 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.241460348 1.241460348 1 0.605432071 0.605432071 1 NA NA 1 NA NA 1 5 NA 1 1 2.19E-20 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 85455672 A G MCOLN2 CCDS30762.1 r.? - - intronic 28 0 0 56 13 23.2 51 15 29.4 1 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.129485493 1.129485493 1 1.603576837 0.801788419 2 NA NA 1 NA NA 1 5 NA 1 1 1.89E-18 1 8.22E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 85518161 G T MCOLN3 CCDS701.1 r.? - - upstream 29 0 0 55 9 16.4 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.7984294 0.7984294 1 1.161775056 1.161775056 1 NA NA 1 NA NA 1 5 NA 1 1 1.01E-11 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 85527911 A C WDR63 CCDS702.1 r.? - - upstream 43 0 0 60 22 36.7 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.786729207 0.893364603 2 1.472672606 1.472672606 1 NA NA 1 NA NA 1 5 NA 1 1 2.81E-35 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 85536986 G T WDR63 CCDS702.1 r.? - - intronic 26 0 0 44 8 18.2 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.886061896 0.886061896 1 1.319951002 1.319951002 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 85561468 G C WDR63 CCDS702.1 r.? - - intronic 29 0 0 45 8 17.8 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.866588008 0.866588008 1 1.069051225 1.069051225 1 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 85868354 G C DDAH1 CCDS705.1 r.? - - intronic 36 0 0 44 11 25 65 13 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 1.57E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 85888734 T G DDAH1 CCDS705.1 r.? - - intronic 20 0 0 43 16 37.2 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.811071567 0.905535783 2 0.763608018 0.763608018 1 NA NA 1 NA NA 1 5 NA 1 1 3.56E-26 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 86003913 T C - - - - - - 76 0 0 112 17 15.2 108 16 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.740007737 0.740007737 1 0.807242762 0.807242762 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-20 1 5.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 86840970 G A ODF2L CCDS30763.1 r.? - - intronic 26 0 0 53 9 17 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.827640232 0.827640232 1 1.134503341 1.134503341 1 NA NA 1 NA NA 1 5 NA 1 1 7.1E-12 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 86876619 C A - - - - - - 22 0 0 49 10 20.4 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.993168279 0.993168279 1 1.456309577 1.456309577 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-14 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 86971661 A G - - - - - - 35 0 0 51 18 35.3 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.7185706 0.8592853 2 1.396311804 1.396311804 1 NA NA 1 NA NA 1 5 NA 1 1 9.1E-29 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 87011018 C A CLCA4 CCDS41355.1 r.? - - upstream 40 0 0 54 9 16.7 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.813034816 0.813034816 1 1.401766147 1.401766147 1 NA NA 1 NA NA 1 5 NA 1 1 8.48E-12 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 87461999 C G HS2ST1 CCDS711.1 r.? - - intronic 29 0 0 46 10 21.7 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.056458414 1.056458414 1 1.156320713 1.156320713 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-14 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 87613959 C T HS2ST1 ENST00000370548 r.? - - intronic 30 0 0 57 7 12.3 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.59882205 0.59882205 1 0.632703786 0.632703786 1 NA NA 1 NA NA 1 5 NA 1 1 1.66E-08 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 87854093 C A - - - - - - 27 0 0 48 12 25 54 8 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 0.807242762 0.807242762 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-17 1 3.31E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 87854864 A C - - - - - - 44 0 0 49 8 16.3 54 5 9.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.793560928 0.793560928 1 0.507253898 0.507253898 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-10 1 0.00000806 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 87857965 A G - - - - - - 29 0 0 67 13 19.4 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.944483559 0.944483559 1 0.927238307 0.927238307 1 NA NA 1 NA NA 1 5 NA 1 1 2.41E-17 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 88137373 A T - - - - - - 38 0 0 39 6 15.4 42 1 2.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.749744681 0.749744681 1 0.130904232 0.130904232 1 NA NA 1 NA NA 1 3 NA 1 1 4.43E-08 1 0.189842622 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 88308250 T C - - - - - - 36 0 0 57 14 24.6 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.197644101 1.197644101 1 0.829060134 0.829060134 1 NA NA 1 NA NA 1 5 NA 1 1 3.84E-20 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 88367952 G C - - - - - - 38 0 0 55 8 14.5 57 9 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.705928433 0.705928433 1 0.861786192 0.861786192 1 NA NA 1 NA NA 1 5 NA 1 1 3.86E-10 1 1.42E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 88590816 G C - - - - - - 29 0 0 47 12 25.5 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.241460348 1.241460348 1 1.123594655 1.123594655 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 89285284 T G PKN2 CCDS714.1 r.? - - intronic 34 0 0 53 16 30.2 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.47027853 1.47027853 1 0.959964365 0.959964365 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-24 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 89634101 A G GBP7 CCDS720.1 r.? - - intronic 30 0 0 63 14 22.2 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.080800774 1.080800774 1 1.118140312 1.118140312 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-19 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 89805293 C A - - - - - - 31 0 0 67 13 19.4 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.944483559 0.944483559 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 5 NA 1 1 2.41E-17 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 89821788 G A - - - - - - 29 0 0 50 11 22 51 12 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.07106383 1.07106383 1 1.281770601 1.281770601 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 3.24E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 90235042 G C - - - - - - 38 0 0 58 11 19 42 5 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.925009671 0.925009671 1 0.649066815 0.649066815 1 NA NA 1 NA NA 1 5 NA 1 1 8.96E-15 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 90535338 T A - - - - - - 24 0 0 48 9 18.8 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.915272727 0.915272727 1 1.183592428 1.183592428 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 90630970 G T - - - - - - 33 0 0 66 10 15.2 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.740007737 0.740007737 1 0.818151448 0.818151448 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-12 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 90678442 G C - - - - - - 32 0 0 48 6 12.5 39 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.608558994 0.608558994 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 90988970 A T - - - - - - 38 0 0 47 8 17 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.827640232 0.827640232 1 0.93269265 0.93269265 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-10 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 91332673 A C - - - - - - 26 0 0 33 7 21.2 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.032116054 1.032116054 1 1.532670379 1.532670379 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 91613741 A C - - - - - - 26 0 0 60 13 21.7 47 13 27.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.056458414 1.056458414 1 1.510853007 1.510853007 1 NA NA 1 NA NA 1 5 NA 1 1 5.07E-18 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 91614684 G A - - - - - - 35 0 0 59 10 16.9 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.82277176 0.82277176 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 4.91E-13 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 91730617 A C HFM1 CCDS30769.2 r.? - - intronic 27 0 0 50 16 32 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.557911025 0.778955513 2 0.949055679 0.949055679 1 NA NA 1 NA NA 1 5 NA 1 1 6.4E-25 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 91953204 C A - - - - - - 31 0 0 51 11 21.6 55 9 16.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.051589942 1.051589942 1 0.894512249 0.894512249 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-15 1 1.01E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 92121332 G C - - - - - - 45 0 0 53 7 13.2 46 3 6.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.642638298 0.642638298 1 0.354532294 0.354532294 1 NA NA 1 NA NA 1 5 NA 1 1 9.85E-09 1 0.001615827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 92275457 A C TGFBR3 CCDS30770.1 r.? - - intronic 37 0 0 58 7 12.1 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.589085106 0.589085106 1 1.489035635 1.489035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.88E-08 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 92278917 T A TGFBR3 CCDS30770.1 r.? - - intronic 35 0 0 53 8 15.1 52 8 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.735139265 0.735139265 1 0.83996882 0.83996882 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-10 1 2.42E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 92452557 C G BRDT CCDS735.1 r.? - - intronic 31 0 0 38 11 28.9 46 12 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.406988395 1.406988395 1 1.423583519 1.423583519 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 8.12E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 92812671 A T RPAP2 CCDS740.1 r.? - - intronic 31 0 0 52 20 38.5 64 12 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.874361702 0.937180851 2 1.025416481 1.025416481 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-32 1 6.3E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 92952776 G T GFI1 CCDS30773.1 r.? - - upstream 28 0 0 60 12 20 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 1.123594655 1.123594655 1 NA NA 1 NA NA 1 5 NA 1 1 2.74E-16 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 93012746 G A EVI5 CCDS30774.1 r.? - - intronic 25 0 0 45 14 31.1 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.514094778 1.514094778 1 0.883603563 0.883603563 1 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 93090773 T C EVI5 CCDS30774.1 r.? - - intronic 41 0 0 50 10 20 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 0.763608018 0.763608018 1 NA NA 1 NA NA 1 5 NA 1 1 8.36E-14 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 93350276 C A FAM69A CCDS44173.1 r.? - - intronic 37 0 0 48 9 18.8 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.915272727 0.915272727 1 1.303587973 1.303587973 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 93353166 G C FAM69A CCDS44173.1 r.? - - intronic 29 0 0 52 11 21.2 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.032116054 1.032116054 1 0.883603563 0.883603563 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-15 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 93528062 C A - - - - - - 35 0 0 48 10 20.8 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.012642166 1.012642166 1 1.259953229 1.259953229 1 NA NA 1 NA NA 1 5 NA 1 1 5.37E-14 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 93897426 G C - - - - - - 37 0 0 67 12 17.9 58 11 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.87145648 0.87145648 1 1.036325167 1.036325167 1 NA NA 1 NA NA 1 5 NA 1 1 1.14E-15 1 8.96E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 94103828 G C BCAR3 CCDS745.1 r.? - - intronic 31 0 0 52 11 21.2 44 16 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.032116054 1.032116054 1 1.985380846 0.992690423 2 NA NA 1 NA NA 1 5 NA 1 1 2.44E-15 1 5.57E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 94119702 T A BCAR3 CCDS745.1 r.? - - intronic 31 1 3.2 44 13 29.5 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.436199226 1.436199226 1 1.15086637 1.15086637 1 NA NA 1 NA NA 1 5 NA 0.143917729 1 5.49E-20 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 94232808 G T BCAR3 CCDS745.1 r.? - - intronic 30 0 0 71 11 15.5 35 7 20 0 0 NA 2 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.754613153 0.754613153 1 1.090868597 1.090868597 1 0 0 1 NA NA 1 5 NA 1 1 9.49E-14 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 94273834 C T BCAR3 CCDS745.1 r.? - - intronic 26 0 0 52 13 25 40 3 7.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 0.409075724 0.409075724 1 NA NA 1 NA NA 1 5 NA 1 1 6.47E-19 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 94857157 A T - - - - - - 42 0 0 53 13 24.5 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.192775629 1.192775629 1 1.134503341 1.134503341 1 NA NA 1 NA NA 1 5 NA 1 1 8.53E-19 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 94946387 C T ABCD3 CCDS749.1 r.? - - intronic 50 0 0 52 13 25 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.238135857 1.238135857 1 NA NA 1 NA NA 1 5 NA 1 1 6.47E-19 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 95092116 C G - - - - - - 23 0 0 57 12 21.1 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.027247582 1.027247582 1 0.970873051 0.970873051 1 NA NA 1 NA NA 1 5 NA 1 1 1.4E-16 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 95582753 C T TMEM56 CCDS753.1 r.? - - upstream 28 0 0 52 10 19.2 28 8 28.6 0 0 NA 2 2 100 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.934746615 0.934746615 1 1.559942094 1.559942094 1 4.868471954 2.434235977 2 NA NA 1 5 NA 1 1 1.28E-13 0.000025 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 95589532 C G TMEM56 CCDS753.1 r.? - - intronic 38 0 0 46 13 28.3 49 11 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.377777563 1.377777563 1 1.221772829 1.221772829 1 NA NA 1 NA NA 1 5 NA 1 1 1.07E-19 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 95718000 T C - - - - - - 33 0 0 61 13 21.3 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.036984526 1.036984526 1 0.93269265 0.93269265 1 NA NA 1 NA NA 1 5 NA 1 1 6.41E-18 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 95746498 C A - - - - - - 24 0 0 52 16 30.8 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.499489362 0.749744681 2 0.632703786 0.632703786 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-24 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 95811869 G T - - - - - - 43 0 0 64 20 31.2 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.51896325 0.759481625 2 0.992690423 0.992690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-30 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 95979414 C G - - - - - - 34 0 0 45 10 22.2 61 12 19.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.080800774 1.080800774 1 1.074505568 1.074505568 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 3.39E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 96500550 G A - - - - - - 38 0 0 46 10 21.7 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.056458414 1.056458414 1 0.883603563 0.883603563 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-14 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 96858849 G T - - - - - - 22 0 0 37 6 16.2 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.788692456 0.788692456 1 1.025416481 1.025416481 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-08 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 96908387 C T - - - - - - 31 0 0 53 16 30.2 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.47027853 1.47027853 1 0.829060134 0.829060134 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-24 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 97010802 T C - - - - - - 28 0 0 47 16 34 58 9 15.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.655280464 0.827640232 2 0.845423163 0.845423163 1 NA NA 1 NA NA 1 5 NA 1 1 1.98E-25 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 97063550 A G - - - - - - 34 0 0 65 12 18.5 54 8 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.900667311 0.900667311 1 0.807242762 0.807242762 1 NA NA 1 NA NA 1 5 NA 1 1 7.7E-16 1 3.31E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 97066151 G T - - - - - - 27 0 0 52 12 23.1 49 11 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.124617021 1.124617021 1 1.221772829 1.221772829 1 NA NA 1 NA NA 1 5 NA 1 1 4.19E-17 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 97150439 T A - - - - - - 29 0 0 56 22 39.3 53 20 37.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.913309478 0.956654739 2 2.056287305 1.028143653 2 NA NA 1 NA NA 1 5 NA 1 1 4.34E-36 1 1.65E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 97293734 A G - - - - - - 43 0 0 45 7 15.6 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.759481625 0.759481625 1 0.763608018 0.763608018 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000003 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 97674846 T C DPYD CCDS30777.1 r.? - - intronic 31 0 0 41 13 31.7 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.543305609 1.543305609 1 0.976327394 0.976327394 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 98262451 G A DPYD CCDS30777.1 r.? - - intronic 39 0 0 46 8 17.4 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.84711412 0.84711412 1 0.818151448 0.818151448 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-11 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 98416409 G A - - - - - - 42 0 0 51 10 19.6 51 14 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 1.499944321 1.499944321 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-13 1 6.64E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 98489878 T G - - - - - - 37 0 0 45 13 28.9 62 12 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.406988395 1.406988395 1 1.058142539 1.058142539 1 NA NA 1 NA NA 1 5 NA 1 1 7.68E-20 1 4.19E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 98519312 T G - - - - - - 36 0 0 38 14 36.8 17 1 5.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.791597679 0.895798839 2 0.321806236 0.321806236 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 0.081683532 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 98693451 G T - - - - - - 36 0 0 56 15 26.8 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.304750484 1.304750484 1 0.861786192 0.861786192 1 NA NA 1 NA NA 1 5 NA 1 1 4.09E-22 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 98902822 G C - - - - - - 29 0 0 41 6 14.6 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.710796905 0.710796905 1 1.210864143 1.210864143 1 NA NA 1 NA NA 1 5 NA 1 1 6.05E-08 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 98994164 T A - - - - - - 35 0 0 50 16 32 49 10 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.557911025 0.778955513 2 1.112685969 1.112685969 1 NA NA 1 NA NA 1 5 NA 1 1 6.4E-25 1 6.72E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 99029905 C G - - - - - - 38 0 0 45 9 20 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 1.270861915 1.270861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-12 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 99238073 A T - - - - - - 37 0 0 56 11 19.6 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 1.46176392 1.46176392 1 NA NA 1 NA NA 1 5 NA 1 1 5.91E-15 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 99318129 A T - - - - - - 27 0 0 49 9 18.4 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.895798839 0.895798839 1 1.679937639 1.679937639 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-12 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 99331918 T G - - - - - - 32 0 0 49 14 28.6 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.392382979 1.392382979 1 1.210864143 1.210864143 1 NA NA 1 NA NA 1 5 NA 1 1 3.5E-21 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 99549052 T C - - - - - - 25 0 0 61 10 16.4 51 9 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.7984294 0.7984294 1 0.959964365 0.959964365 1 NA NA 1 NA NA 1 5 NA 1 1 6.98E-13 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 100363272 G T AGL CCDS759.1 r.? - - intronic 30 0 0 46 10 21.7 57 12 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.056458414 1.056458414 1 1.15086637 1.15086637 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-14 1 1.4E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 100464665 C T SLC35A3 CCDS762.1 r.? - - intronic 44 0 0 48 17 35.4 53 8 15.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.723439072 0.861719536 2 0.823605791 0.823605791 1 NA NA 1 NA NA 1 5 NA 1 1 2.8E-27 1 2.83E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 100695088 A G DBT CCDS767.1 r.? - - intronic 39 0 0 67 13 19.4 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.944483559 0.944483559 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 5 NA 1 1 2.41E-17 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 100729316 C G RTCD1 CCDS768.1 r.? - - upstream 32 0 0 56 8 14.3 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 1.118140312 1.118140312 1 NA NA 1 NA NA 1 5 NA 1 1 4.48E-10 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 100899214 T A CDC14A CCDS769.1 r.? - - intronic 31 0 0 52 10 19.2 45 5 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.934746615 0.934746615 1 0.605432071 0.605432071 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-13 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 100928551 A G CDC14A CCDS769.1 r.? - - intronic 34 0 0 47 14 29.8 35 4 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.450804642 1.450804642 1 0.6217951 0.6217951 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 100950586 C G CDC14A CCDS769.1 r.? - - intronic 40 0 0 48 8 16.7 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.813034816 0.813034816 1 0.752699332 0.752699332 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-10 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 101074331 G T - - - - - - 36 0 0 59 17 28.8 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.402119923 1.402119923 1 0.93269265 0.93269265 1 NA NA 1 NA NA 1 5 NA 1 1 1.74E-25 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 101416401 G A SLC30A7 CCDS776.1 r.? - - intronic 33 0 0 55 11 20 55 7 12.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 0.692701559 0.692701559 1 NA NA 1 NA NA 1 5 NA 1 1 4.77E-15 1 1.28E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 101605729 G A - - - - - - 40 0 0 63 10 15.9 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.774087041 0.774087041 1 0.818151448 0.818151448 1 NA NA 1 NA NA 1 5 NA 1 1 9.81E-13 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 101629434 A G - - - - - - 34 0 0 46 10 21.7 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.056458414 1.056458414 1 1.238135857 1.238135857 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-14 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 101659982 G A - - - - - - 35 0 0 58 10 17.2 54 8 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.837377176 0.837377176 1 0.807242762 0.807242762 1 NA NA 1 NA NA 1 5 NA 1 1 4.1E-13 1 3.31E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 101892256 G T - - - - - - 31 0 0 46 8 17.4 42 1 2.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.84711412 0.84711412 1 0.130904232 0.130904232 1 NA NA 1 NA NA 1 3 NA 1 1 8.61E-11 1 0.189842622 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 102085118 G T - - - - - - 50 0 0 59 7 11.9 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.579348162 0.579348162 1 1.210864143 1.210864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.12E-08 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 102144311 C A - - - - - - 38 0 0 48 12 25 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.063596882 1.063596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-17 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 102314017 A G OLFM3 CCDS30781.1 r.? - - intronic 43 0 0 59 12 20.3 60 11 18.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.988299807 0.988299807 1 0.998144766 0.998144766 1 NA NA 1 NA NA 1 5 NA 1 1 2.2E-16 1 1.34E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 102766398 G A - - - - - - 36 0 0 54 10 18.5 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.900667311 0.900667311 1 1.167229399 1.167229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.91E-13 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 102787550 C G - - - - - - 37 0 0 43 9 20.9 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.017510638 1.017510638 1 1.401766147 1.401766147 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 102825333 G C - - - - - - 41 0 0 54 10 18.5 37 4 10.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.900667311 0.900667311 1 0.589069042 0.589069042 1 NA NA 1 NA NA 1 5 NA 1 1 1.91E-13 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 103087395 G A - - - - - - 31 0 0 46 8 17.4 64 22 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.84711412 0.84711412 1 1.876293987 0.938146993 2 NA NA 1 NA NA 1 5 NA 1 1 8.61E-11 1 1.57E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 103133529 G A - - - - - - 44 0 0 51 8 15.7 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.764350097 0.764350097 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.05E-10 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 103247005 G T - - - - - - 35 0 0 47 13 27.7 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.348566731 1.348566731 1 1.619939866 1.619939866 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-19 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 103383214 C T COL11A1 CCDS779.1 r.? - - intronic 39 0 0 50 9 18 54 10 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.876324952 0.876324952 1 1.009053452 1.009053452 1 NA NA 1 NA NA 1 5 NA 1 1 4.07E-12 1 1.91E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 103527064 C T COL11A1 CCDS779.1 r.? - - intronic 35 0 0 43 11 25.6 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.24632882 1.24632882 1 1.15086637 1.15086637 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 104447369 T C - - - - - - 39 0 0 55 10 18.2 59 10 16.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.886061896 0.886061896 1 0.921783964 0.921783964 1 NA NA 1 NA NA 1 5 NA 1 1 2.33E-13 1 4.91E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 104456462 T C - - - - - - 41 0 0 51 6 11.8 42 3 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.574479691 0.574479691 1 0.387258352 0.387258352 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000232 1 0.001240292 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 104908141 C G - - - - - - 24 0 0 48 9 18.8 35 3 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.915272727 0.915272727 1 0.469073497 0.469073497 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 105015644 G T - - - - - - 34 0 0 35 7 20 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 0.850877506 0.850877506 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 105218139 G A - - - - - - 33 0 0 60 9 15 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.730270793 0.730270793 1 0.970873051 0.970873051 1 NA NA 1 NA NA 1 5 NA 1 1 2.29E-11 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 105443243 C A - - - - - - 38 0 0 40 15 37.5 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.825676983 0.912838491 2 1.865385301 0.93269265 2 NA NA 1 NA NA 1 5 NA 1 1 1.09E-24 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 105553101 G A - - - - - - 30 0 0 49 8 16.3 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.793560928 0.793560928 1 0.758153675 0.758153675 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-10 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 106090594 C A - - - - - - 42 0 0 49 8 16.3 45 6 13.3 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.793560928 0.793560928 1 0.725427617 0.725427617 1 NA NA 1 0 0 1 5 NA 1 1 1.47E-10 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 106131829 C T - - - - - - 41 0 0 45 8 17.8 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.866588008 0.866588008 1 0.93269265 0.93269265 1 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 106278990 G T - - - - - - 16 0 0 33 8 24.2 26 3 11.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.178170213 1.178170213 1 0.627249443 0.627249443 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 106483545 G A - - - - - - 31 0 0 46 6 13 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.632901354 0.632901354 1 1.04177951 1.04177951 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 106548898 C T - - - - - - 37 0 0 59 18 30.5 45 4 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.484883946 0.742441973 2 0.485436526 0.485436526 1 NA NA 1 NA NA 1 5 NA 1 1 2.03E-27 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 106556156 C G - - - - - - 32 0 0 62 28 45.2 47 19 40.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.200549323 1.100274662 2 2.203554566 1.101777283 2 NA NA 1 NA NA 1 5 NA 1 1 1.1E-47 1 1.16E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 106721915 C T - - - - - - 42 0 0 56 10 17.9 53 12 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.87145648 0.87145648 1 1.232681514 1.232681514 1 NA NA 1 NA NA 1 5 NA 1 1 2.82E-13 1 5.39E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 106994312 C T - - - - - - 41 0 0 44 8 18.2 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.886061896 0.886061896 1 1.036325167 1.036325167 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 107153530 G T - - - - - - 42 0 0 60 11 18.3 57 11 19.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.890930368 0.890930368 1 1.052688196 1.052688196 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-14 1 7.29E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 107239512 G A - - - - - - 50 0 0 47 11 23.4 57 16 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.139222437 1.139222437 1 1.532670379 0.766335189 2 NA NA 1 NA NA 1 5 NA 1 1 7.21E-16 1 7.28E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 107319479 A G - - - - - - 38 0 0 43 10 23.3 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.134353965 1.134353965 1 1.227227171 1.227227171 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 107364286 C T - - - - - - 50 0 0 30 5 16.7 47 4 8.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.813034816 0.813034816 1 0.463619154 0.463619154 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 0.0000939 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 107537858 G T - - - - - - 26 0 0 46 5 10.9 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.530663443 0.530663443 1 1.04177951 1.04177951 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000361 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 107594803 C T PRMT6 CCDS41360.1 r.? - - upstream 42 0 0 40 7 17.5 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.851982592 0.851982592 1 0.709064588 0.709064588 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 107708059 T A NTNG1 CCDS44180.1 r.? - - intronic 41 0 0 51 9 17.6 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.856851064 0.856851064 1 1.014507795 1.014507795 1 NA NA 1 NA NA 1 5 NA 1 1 4.92E-12 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 107715954 G T NTNG1 CCDS44180.1 r.? - - intronic 25 0 0 48 12 25 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.139957684 1.139957684 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-17 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 108510847 T A VAV3 CCDS785.1 r.? - - upstream 32 0 0 35 6 17.1 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.832508704 0.832508704 1 0.992690423 0.992690423 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 108570049 A T - - - - - - 33 0 0 45 7 15.6 46 5 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.759481625 0.759481625 1 0.594523385 0.594523385 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000003 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 108607347 C G - - - - - - 42 0 0 45 6 13.3 50 10 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.64750677 0.64750677 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000108 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 108887305 T G - - - - - - 28 0 0 48 15 31.2 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.51896325 0.759481625 2 0.959964365 0.959964365 1 NA NA 1 NA NA 1 5 NA 1 1 2.86E-23 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 108906331 T G - - - - - - 25 0 0 46 7 15.2 48 7 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.740007737 0.740007737 1 0.796334076 0.796334076 1 NA NA 1 NA NA 1 5 NA 1 1 3.53E-09 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 109151394 G A FAM102B CCDS30786.2 r.? - - intronic 29 0 0 49 15 30.6 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.489752418 1.489752418 1 0.829060134 0.829060134 1 NA NA 1 NA NA 1 5 NA 1 1 4.1E-23 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 109508634 G C CLCC1 CCDS41362.1 r.? - - upstream 23 0 0 50 8 16 48 9 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.778955513 0.778955513 1 1.025416481 1.025416481 1 NA NA 1 NA NA 1 5 NA 1 1 1.74E-10 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 109804573 C T CELSR2 CCDS796.1 r.? - - intronic 25 0 0 54 10 18.5 45 4 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.900667311 0.900667311 1 0.485436526 0.485436526 1 NA NA 1 NA NA 1 5 NA 1 1 1.91E-13 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 109951094 A G PSMA5 CCDS799.1 r.? - - intronic 39 0 0 56 22 39.3 53 20 37.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.913309478 0.956654739 2 2.056287305 1.028143653 2 NA NA 1 NA NA 1 5 NA 1 1 4.34E-36 1 1.65E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 110059000 G C - - - - - - 35 0 0 43 9 20.9 47 13 27.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.017510638 1.017510638 1 1.510853007 1.510853007 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 110079261 C G GPR61 CCDS801.1 r.? - - upstream 27 0 0 60 13 21.7 31 2 6.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.056458414 1.056458414 1 0.354532294 0.354532294 1 NA NA 1 NA NA 1 5 NA 1 1 5.07E-18 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 110165143 A T AMPD2 CCDS805.1 r.? - - intronic 23 0 0 41 5 12.2 34 4 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.593953578 0.593953578 1 0.643612472 0.643612472 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000202 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 110464353 G T CSF1 CCDS816.1 r.? - - intronic 35 0 0 48 12 25 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 0.992690423 0.992690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-17 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 110763823 T C KCNC4 CCDS821.1 r.? - - intronic 22 0 0 44 9 20.5 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.99803675 0.99803675 1 1.46176392 1.46176392 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 110833426 A C - - - - - - 31 0 0 57 16 28.1 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.368040619 1.368040619 1 1.030870824 1.030870824 1 NA NA 1 NA NA 1 5 NA 1 1 7.28E-24 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 110970981 C G - - - - - - 27 0 0 50 10 20 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 1.178138085 1.178138085 1 NA NA 1 NA NA 1 5 NA 1 1 8.36E-14 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 111156645 C A KCNA2 ENST00000369770 r.? - - intronic 28 0 0 40 13 32.5 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 111280953 T C - - - - - - 23 0 0 29 10 34.5 20 7 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.334622824 1.334622824 1 1.559020045 1.559020045 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 5.72E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 111363865 T C - - - - - - 16 0 0 14 6 42.9 13 1 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.659574468 1.659574468 1 0.34298441 0.34298441 1 NA NA 1 NA NA 1 5 NA 1 1 4.53E-11 1 0.063085307 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 111364594 G A - - - - - - 37 0 0 43 10 23.3 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 111751227 G C DENND2D ENST00000369752 r.? - - upstream 43 0 0 32 6 18.8 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 111867159 A T CHIA CCDS41368.1 r.? - - downstream 26 0 0 37 11 29.7 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.14893617 1.14893617 1 0.779510022 0.779510022 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 112119799 C T RAP1A CCDS840.1 r.? - - intronic 25 0 0 42 10 23.8 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 112349233 A G KCND3 CCDS844.1 r.? - - intronic 34 0 0 41 11 26.8 50 14 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 4.84E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 112520369 C T KCND3 CCDS844.1 r.? - - intronic 42 0 0 40 6 15 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.580270793 0.580270793 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-08 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 112806842 G C - - - - - - 36 0 0 31 10 32.3 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 1.010980636 1.010980636 1 0.919389689 0.919389689 1 NA NA 0 NA NA 0 5 NA 1 1 3.94E-16 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 112825850 A G - - - - - - 41 0 0 27 7 25.9 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.810662491 0.810662491 1 1.104693037 1.104693037 1 NA NA 1 NA NA 0 5 NA 1 1 6.36E-11 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 112853125 A G - - - - - - 24 0 0 23 7 30.4 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.951511187 0.951511187 1 1.111820089 1.111820089 1 NA NA 1 NA NA 0 5 NA 1 1 1.79E-11 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 112970215 G A CTTNBP2NL CCDS845.1 r.? - - intronic 42 0 0 36 16 44.4 22 7 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 1.389707128 1.389707128 1 1.133201245 1.133201245 1 NA NA 1 NA NA 0 5 NA 1 1 1.01E-27 1 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 114255500 C A PHTF1 CCDS861.1 r.? - - intronic 32 0 0 23 5 21.7 21 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.679203709 0.679203709 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 9.75E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 114674046 A T SYT6 CCDS871.1 r.? - - intronic 26 0 0 35 15 42.9 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 1.342757563 1.342757563 1 0.712705185 0.712705185 1 NA NA 1 NA NA 1 5 NA 1 1 9.02E-26 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 114806621 C G - - - - - - 25 0 0 47 5 10.6 27 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.331776927 1.268750003 0.261499055 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000402 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 114846959 G A - - - - - - 34 0 0 21 7 33.3 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 1.042280346 1.042280346 1 1.151018874 1.151018874 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-12 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 115349732 C A - - - - - - 39 0 0 31 12 38.7 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 1.21129878 1.21129878 1 1.054803674 1.054803674 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 115648191 T C - - - - - - 42 0 0 38 11 28.9 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.904561622 0.904561622 1 0.869500326 0.869500326 1 NA NA 0 NA NA 0 5 NA 1 1 5.19E-17 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 115732054 T A - - - - - - 34 0 0 39 12 30.8 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.964031071 0.964031071 1 0.555910045 0.555910045 1 NA NA 0 NA NA 0 5 NA 1 1 8.43E-19 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 117226924 G T - - - - - - 20 0 0 33 11 33.3 26 14 53.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 1.042280346 1.042280346 1 1.917176948 1.917176948 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 5.57E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 117357533 T G - - - - - - 25 0 0 29 8 27.6 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.863871998 0.863871998 1 0.830301541 0.830301541 1 NA NA 1 NA NA 0 5 NA 1 1 1.53E-12 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 117672662 G A - - - - - - 33 0 0 32 5 15.6 32 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.488275477 0.488275477 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000562 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 117983080 C T MAN1A2 CCDS895.1 r.? - - intronic 38 0 0 35 9 25.7 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.804402549 0.804402549 1 1.232979971 1.232979971 1 NA NA 1 NA NA 0 5 NA 1 1 1.23E-13 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 118173018 C A FAM46C CCDS896.1 r.? - - downstream 29 0 0 37 11 29.7 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.92960139 0.92960139 1 0.548782993 0.548782993 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 118951560 G A - - - - - - 33 0 0 36 14 38.9 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 1.217558722 1.217558722 1 0.890881482 0.890881482 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 118984128 C G - - - - - - 33 0 0 37 14 37.8 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 1.183129041 1.183129041 1 0.922953215 0.922953215 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-23 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 119258335 G C - - - - - - 57 0 0 37 13 35.1 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 1.098619824 1.098619824 1 1.2507976 1.2507976 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 120035555 T G AL121995.1 ENST00000506663 r.? - - intronic 28 0 0 35 4 11.4 37 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.356816695 1.36450472 0.261499055 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000289 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 120201693 A T - - - - - - 40 1 2.5 31 8 25.8 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.80753252 0.80753252 1 0.780412178 0.780412178 1 NA NA 0 NA NA 1 5 NA 0.181679879 1 2.78E-12 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 120350484 C T REG4 CCDS906.1 r.? - - intronic 31 0 0 28 6 21.4 35 0 0 223 0 0 110 8 7.3 257 0 0 TRUE TRUE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.669813796 0.669813796 1 0 0 1 0.228487884 0.873761794 0.261499055 0 0 1 3 5 1 1 5.36E-09 0.000000102 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9776b 1 120612332 G A NOTCH2 CCDS908.1 r.? - - upstream 21 0 0 31 5 16.1 6 0 0 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.503925332 0.503925332 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000476 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 120629244 A G - - - - - - 46 0 0 65 8 12.3 69 2 2.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.384986434 1.472228777 0.261499055 0.103342252 0.94650547 0.109182942 NA NA 1 NA NA 1 5 NA 1 1 1.53E-09 1 0.04704084 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 121249581 A T - - - - - - 47 0 0 29 5 17.2 29 10 34.5 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.538355014 0.538355014 1 1.229416445 1.229416445 1 NA NA 0 0 0 1 5 NA 1 1 0.000000336 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 121268018 T C - - - - - - 33 0 0 43 12 27.9 23 4 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.873261911 0.873261911 1 0.620053511 0.620053511 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 143123313 A T - - - - - - 81 0 0 74 12 16.2 77 10 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.507055303 0.507055303 1 0.46325837 0.46325837 1 NA NA 1 NA NA 0 4 NA 1 1 4.02E-15 1 7.9E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 143274863 G A - - - - - - 61 0 0 72 20 27.8 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.87013194 0.87013194 1 0.609362933 0.609362933 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-29 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 144543443 T G AL592284.1 CCDS3072.1 r.? - - intronic 124 0 0 121 11 9.1 160 18 11.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.284827362 1.089209908 0.261499055 0.399114904 0.399114904 1 NA NA 1 NA NA 0 4 NA 1 1 3.76E-11 1 5.31E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 144914201 C A PDE4DIP CCDS30824.1 r.? - - intronic 95 0 0 111 8 7.2 108 10 9.3 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.333309755 0.333309755 1 0.507253898 0.507253898 1 NA NA 0 NA NA 1 2 NA 1 1 0.000000109 1 2.42E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 145102094 G C - - - - - - 107 0 0 98 7 7.1 107 11 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.328680453 0.328680453 1 0.561797327 0.561797327 1 NA NA 0 NA NA 1 2 NA 1 1 0.000000726 1 9.74E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 145131890 G A - - - - - - 53 0 0 92 17 18.5 74 16 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.856420899 0.856420899 1 1.178138085 1.178138085 1 NA NA 0 NA NA 1 5 NA 1 1 7.54E-22 1 7.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 145368284 T G ENSG00000163386 ENST00000369339 r.? - - intronic 51 0 0 64 13 20.3 76 10 13.2 35 0 0 19 1 5.3 17 9 52.9 TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.939748338 0.939748338 1 0.719973274 0.719973274 1 0.245353014 NA 0 2.885347439 1.442673719 2 5 NA 1 1 1.26E-17 0.090843738 6.9E-12 4.58E-17 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 146558576 C G - - - - - - 35 0 0 66 10 15.2 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.703653928 0.703653928 1 0.93269265 0.93269265 1 NA NA 0 NA NA 1 5 NA 1 1 1.6E-12 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 146983180 C A - - - - - - 33 0 0 34 7 20.6 38 20 52.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.953636244 0.953636244 1 2.86898441 1.434492205 2 NA NA 0 NA NA 1 5 NA 1 1 3.73E-10 1 2.94E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 147169821 A C - - - - - - 25 0 0 49 10 20.4 35 2 5.7 104 0 0 55 19 34.5 36 17 47.2 TRUE TRUE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.94437764 0.94437764 1 0.31089755 0.31089755 1 1.597109244 0.907020587 1.760830204 2.574449889 1.287224944 2 5 4 1 1 6.72E-14 4.51E-30 0.013332991 6E-30 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 1 147169964 G A - - - - - - 31 0 0 31 10 32.3 40 19 47.5 104 0 0 100 40 40 44 7 15.9 TRUE TRUE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.495264597 1.495264597 1 2.590812918 1.295406459 2 1.851720863 1.051618071 1.760830204 0.867240535 0.867240535 1 5 6 1 1 3.94E-16 9.32E-65 2.27E-33 2.55E-09 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 1 147186287 T C - - - - - - 34 0 0 54 11 20.4 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.94437764 0.94437764 1 1.363585746 1.363585746 1 NA NA 0 NA NA 1 5 NA 1 1 3.84E-15 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 147229599 A T GJA5 CCDS929.1 r.1910u>a c.? p.? 3'UTR variant 24 0 0 53 21 39.6 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.833203654 1.041101891 1.760830204 1.249044543 1.249044543 1 NA NA 0 NA NA 1 5 NA 1 1 1.3E-34 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 149417683 A G - - - - - - 40 0 0 45 8 17.8 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.824015784 0.824015784 1 0.954510022 0.954510022 1 NA NA 0 NA NA 1 5 NA 1 1 7.14E-11 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 149858085 C G HIST2H2BE CCDS936.1 r.148g>c c.106G>C p.E36Q missense 20 0 0 54 20 37 37 10 27 269 0 0 284 91 32 13 13 100 TRUE TRUE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.712841798 0.972746716 1.760830204 1.472672606 1.472672606 1 1.48137669 0.841294457 1.760830204 5.454342984 2.727171492 2 5 4 1 1 2.61E-32 1.79E-134 3.01E-15 1.22E-30 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 150164912 T G - - - - - - 29 0 0 49 15 30.6 50 13 26 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.41656646 1.41656646 1 1.418129176 1.418129176 1 NA NA 0 NA NA 1 5 NA 1 1 4.1E-23 1 3.65E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 150176252 G T - - - - - - 23 0 0 46 23 50 35 12 34.3 0 0 NA 0 0 NA 2 2 100 TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.314651079 1.314522589 1.760830204 1.870839644 0.935419822 2 NA NA 0 5.454342984 2.727171492 2 5 NA 1 1 8.79E-41 1 1.83E-19 0.000025 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 150588816 G T ENSA CCDS958.1 r.? - - downstream 42 0 0 59 22 37.3 49 19 38.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.726729705 0.980633852 1.760830204 2.116285078 1.058142539 2 NA NA 0 NA NA 1 5 NA 1 1 1.79E-35 1 3.12E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 150852112 C A ARNT CCDS970.1 r.? - - upstream 32 0 0 58 12 20.7 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.958265547 0.958265547 1 1.259953229 1.259953229 1 NA NA 0 NA NA 1 5 NA 1 1 1.76E-16 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 150896149 T A SETDB1 CCDS972.1 r.? - - upstream 23 0 0 36 19 52.8 30 12 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.444271539 1.388135854 1.760830204 2.181737194 1.090868597 2 NA NA 0 NA NA 1 5 NA 1 1 1.51E-34 1 1.94E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 151328852 T C - - - - - - 43 0 0 52 22 42.3 43 19 44.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.958194813 1.112086111 1.760830204 2.410819599 1.2054098 2 NA NA 0 NA NA 1 5 NA 1 1 5.59E-37 1 1.36E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 151410956 A G POGZ CCDS997.1 r.? - - intronic 33 0 0 56 15 26.8 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.240652978 1.240652978 1 0.758153675 0.758153675 1 NA NA 0 NA NA 1 5 NA 1 1 4.09E-22 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 151693504 G A CELF3 CCDS1002.1 r.? - - upstream 30 0 0 65 11 16.9 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.782352065 0.782352065 1 1.156320713 1.156320713 1 NA NA 0 NA NA 1 5 NA 1 1 3.41E-14 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 151769538 A C LINGO4 CCDS30855.1 r.? - - downstream 36 0 0 48 24 50 68 27 39.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.314651079 1.314522589 1.760830204 2.165374165 1.082687082 2 NA NA 0 NA NA 1 5 NA 1 1 1.71E-42 1 4.16E-44 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 152513282 A C LCE3C ENST00000419212 r.? - - intronic 38 0 0 51 5 9.8 43 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.453671611 0.596284965 0.760830204 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000606 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 152592280 G A LCE3A CCDS1017.1 r.? - - downstream 31 0 0 52 8 15.4 25 2 8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.712912532 0.712912532 1 0.436347439 0.436347439 1 NA NA 0 NA NA 1 5 NA 1 1 2.42E-10 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 152755713 A G LCE1E CCDS1024.1 r.? - - upstream 28 0 0 48 9 18.8 54 12 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.870308806 0.870308806 1 1.210864143 1.210864143 1 NA NA 0 NA NA 1 5 NA 1 1 2.75E-12 1 6.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 152843043 T C - - - - - - 44 0 0 59 17 28.8 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.333239021 1.333239021 1 1.303587973 1.303587973 1 NA NA 0 NA NA 1 5 NA 1 1 1.74E-25 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 152945883 A G SPRR4 CCDS1031.1 r.? - - downstream 32 0 0 37 13 35.1 44 13 29.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.624885057 0.922794858 1.760830204 1.60903118 0.80451559 2 NA NA 0 NA NA 1 5 NA 1 1 3.89E-21 1 5.49E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 152973279 C A SPRR3 CCDS1033.1 r.? - - upstream 32 0 0 42 7 16.7 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.77309346 0.77309346 1 1.030870824 1.030870824 1 NA NA 0 NA NA 1 5 NA 1 1 1.81E-09 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 153180798 G A LELP1 CCDS30869.1 r.? - - downstream 32 0 0 29 11 37.9 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.754505518 0.996408123 1.760830204 1.489035635 1.489035635 1 NA NA 0 NA NA 1 5 NA 1 1 1.56E-18 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 153244808 G C - - - - - - 27 0 0 37 22 59.5 42 15 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.754434784 1.564281881 1.760830204 1.947200445 0.973600223 2 NA NA 0 NA NA 1 5 NA 1 1 2.08E-41 1 2.65E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 153356629 G T - - - - - - 42 0 0 39 12 30.8 42 5 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.425825064 1.425825064 1 0.649066815 0.649066815 1 NA NA 0 NA NA 1 5 NA 1 1 8.43E-19 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 153680297 A G - - - - - - 23 0 0 20 6 30 26 9 34.6 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.388790647 1.388790647 1 1.887202673 0.943601336 2 NA NA 0 NA NA 1 5 NA 1 1 5.7E-10 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 153680638 C G - - - - - - 23 0 0 55 20 36.4 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.685065985 0.956972445 1.760830204 1.598122494 1.598122494 1 NA NA 0 NA NA 1 5 NA 1 1 4.08E-32 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 154201728 G A UBAP2L CCDS1063.1 r.? - - intronic 29 0 0 52 18 34.6 48 23 47.9 0 0 NA 2 2 100 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.601738546 0.909649632 1.760830204 2.61263029 1.306315145 2 4.629302157 2.629045179 1.760830204 NA NA 1 5 NA 1 1 1.39E-28 0.000025 3.27E-40 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 154388816 T A IL6R CCDS1067.1 r.? - - intronic 19 0 0 38 15 39.5 45 22 48.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.828574352 1.038472846 1.760830204 2.667173719 1.33358686 2 NA NA 0 NA NA 1 5 NA 1 1 4.24E-25 1 8.79E-39 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 154442093 G C IL6R CCDS1067.1 r.? - - downstream 30 0 0 48 9 18.8 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.870308806 0.870308806 1 1.396311804 1.396311804 1 NA NA 0 NA NA 1 5 NA 1 1 2.75E-12 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 154612743 A T - - - - - - 25 0 0 49 21 42.9 52 22 42.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.985970625 1.127860382 1.760830204 2.307187082 1.153593541 2 NA NA 0 NA NA 1 5 NA 1 1 1.63E-35 1 5.59E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 155079167 G T - - - - - - 29 0 0 49 9 18.4 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.851791597 0.851791597 1 0.949055679 0.949055679 1 NA NA 0 NA NA 1 5 NA 1 1 3.35E-12 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 155198562 T A GBAP1 ENST00000440295 r.? - - upstream 33 0 0 49 6 12.2 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.564774863 0.564774863 1 1.319951002 1.319951002 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000182 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 155271712 C A PKLR CCDS1109.1 r.? - - upstream 35 0 0 38 10 26.3 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.217506467 1.217506467 1 1.429037862 1.429037862 1 NA NA 0 NA NA 1 5 NA 1 1 4.06E-15 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 155448975 T C ASH1L CCDS1113.2 r.4165a>g c.3686A>G p.H1229R missense 33 0 0 53 13 24.5 52 1 1.9 165 0 0 118 8 6.8 81 0 0 TRUE TRUE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.134179029 1.134179029 1 0.103632517 0.103632517 1 0.314792547 0.314792547 1 0 0 1 5 2 1 1 8.53E-19 0.000000175 0.229451111 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9776b 1 155839008 C G SYT11 CCDS1122.1 r.? - - intronic 28 0 0 51 7 13.7 37 4 10.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.634214396 0.634214396 1 0.589069042 0.589069042 1 NA NA 0 NA NA 1 5 NA 1 1 7.46E-09 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 156239746 G A SMG5 CCDS1137.1 r.? - - intronic 32 0 0 47 15 31.9 47 17 36.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.476747388 1.476747388 1 1.97447216 0.98723608 2 NA NA 0 NA NA 1 5 NA 1 1 1.97E-23 1 1.81E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 156274391 G C CCT3 CCDS44244.1 r.? - - downstream 36 0 0 37 5 13.5 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.624955791 0.624955791 1 1.118140312 1.118140312 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000119 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 156306128 G C CCT3 CCDS44244.1 r.? - - intronic 31 0 0 55 25 45.5 52 12 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.106332482 1.196215556 1.760830204 1.259953229 1.259953229 1 NA NA 0 NA NA 1 5 NA 1 1 7.96E-43 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 156369408 G T C1orf61 CCDS1142.1 r.? - - downstream 36 0 0 38 8 21.1 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.976782755 0.976782755 1 1.292679287 1.292679287 1 NA NA 0 NA NA 1 5 NA 1 1 1.67E-11 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 156369819 C A C1orf61 CCDS1142.1 r.? - - downstream 34 0 0 46 12 26.1 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.208247863 1.208247863 1 0.83996882 0.83996882 1 NA NA 0 NA NA 1 5 NA 1 1 8.12E-18 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 156631942 C G BCAN CCDS1149.1 r.? - - downstream 40 0 0 52 30 57.7 46 29 63 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.671107345 1.516959068 1.760830204 3.43623608 1.71811804 2 NA NA 0 NA NA 1 5 NA 1 1 2.26E-55 1 3E-55 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 156827823 G T INSRR CCDS1160.1 r.? - - intronic 26 0 0 67 7 10.4 54 7 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.481447424 0.632792208 0.760830204 0.709064588 0.709064588 1 NA NA 0 NA NA 1 5 NA 1 1 5.23E-08 1 1.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 157294953 C T - - - - - - 51 0 0 62 27 43.5 53 20 37.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.013746438 1.143634653 1.760830204 2.056287305 1.028143653 2 NA NA 0 NA NA 1 5 NA 1 1 1.76E-45 1 1.65E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 157750980 A C FCRL2 CCDS1168.1 r.? - - upstream 27 0 0 47 18 38.3 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.773022726 1.006924303 1.760830204 1.118140312 1.118140312 1 NA NA 0 NA NA 1 5 NA 1 1 1.52E-29 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 157804331 G T CD5L CCDS1171.1 r.681c>a c.584C>A p.A195D missense 37 0 0 58 20 34.5 38 13 34.2 261 0 0 244 64 26.2 46 11 23.9 TRUE TRUE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.597109244 0.907020587 1.760830204 1.865385301 0.93269265 2 1.212877165 1.212877165 1 1.303587973 1.303587973 1 5 4 1 1 1.47E-31 1.23E-88 5.88E-21 5.55E-16 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 1 157971839 G A KIRREL CCDS1172.2 r.? - - intronic 32 0 0 34 9 26.5 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.226765072 1.226765072 1 0.829060134 0.829060134 1 NA NA 0 NA NA 1 5 NA 1 1 9.15E-14 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 158074746 G T KIRREL ENST00000368172 r.? - - downstream 36 0 0 47 5 10.6 49 1 2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.490706029 0.644961289 0.760830204 0.10908686 0.10908686 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000402 1 0.217776325 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 158232824 T G CD1A CCDS1174.1 r.? - - downstream 29 0 0 44 16 36.4 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.685065985 0.956972445 1.760830204 1.521761693 1.521761693 1 NA NA 0 NA NA 1 5 NA 1 1 5.57E-26 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 158286005 G C - - - - - - 35 0 0 42 10 23.8 39 3 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.101773913 1.101773913 1 0.41998441 0.41998441 1 NA NA 0 NA NA 1 5 NA 1 1 1.24E-14 1 0.000998458 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 158301459 C T CD1B CCDS1176.1 r.? - - upstream 20 0 0 51 11 21.6 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.999929266 0.999929266 1 1.363585746 1.363585746 1 NA NA 0 NA NA 1 5 NA 1 1 1.94E-15 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 158340647 A G - - - - - - 32 0 0 45 15 33.3 42 18 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.541557618 0.875472044 1.760830204 2.33991314 1.16995657 2 NA NA 0 NA NA 1 5 NA 1 1 9.14E-24 1 1.2E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 158351590 C A - - - - - - 44 0 0 43 10 23.3 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.078627403 1.078627403 1 0.872694878 0.872694878 1 NA NA 0 NA NA 1 5 NA 1 1 1.61E-14 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 158430238 T A - - - - - - 50 0 0 51 11 21.6 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.999929266 0.999929266 1 0.850877506 0.850877506 1 NA NA 0 NA NA 1 5 NA 1 1 1.94E-15 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 158433771 A G OR10K1 CCDS30897.1 r.? - - upstream 41 0 0 57 11 19.3 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.893455316 0.893455316 1 1.325405345 1.325405345 1 NA NA 0 NA NA 1 5 NA 1 1 7.29E-15 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 158526519 T G - - - - - - 43 0 0 46 11 23.9 51 13 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.106403216 1.106403216 1 1.390857461 1.390857461 1 NA NA 0 NA NA 1 5 NA 1 1 5.55E-16 1 4.87E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 158615480 C A SPTA1 CCDS41423.1 r.? - - intronic 28 0 0 50 11 22 53 6 11.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.018446475 1.018446475 1 0.616340757 0.616340757 1 NA NA 0 NA NA 1 5 NA 1 1 1.52E-15 1 0.000000293 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 158648201 G A SPTA1 CCDS41423.1 r.983c>u c.802C>T p.R268* nonsense 40 0 0 41 10 24.4 45 8 17.8 188 0 0 99 20 20.2 183 4 2.2 TRUE TRUE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.129549726 1.129549726 1 0.970873051 0.970873051 1 0.935119036 0.935119036 1 0.119995546 0.119995546 1 5 5 1 1 9.51E-15 2.81E-26 7.14E-11 0.013946145 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 1 158662198 G C - - - - - - 47 0 0 44 15 34.1 49 11 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.578592036 0.896504406 1.760830204 1.221772829 1.221772829 1 NA NA 0 NA NA 1 5 NA 1 1 6.12E-24 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 158773102 A G - - - - - - 26 0 0 40 17 42.5 44 14 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.967453417 1.117344201 1.760830204 1.734481069 0.867240535 2 NA NA 0 NA NA 1 5 NA 1 1 6.07E-29 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 159114691 A G AIM2 ENST00000411768 r.? - - intronic 43 0 0 45 20 44.4 42 17 40.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.055410158 1.167296059 1.760830204 2.209008909 1.104504454 2 NA NA 0 NA NA 1 5 NA 1 1 2.68E-34 1 1.73E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 159134929 C G - - - - - - 23 0 0 49 8 16.3 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.754576252 0.754576252 1 0.93269265 0.93269265 1 NA NA 0 NA NA 1 5 NA 1 1 1.47E-10 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 159271899 C T FCER1A CCDS1184.1 r.? - - intronic 31 0 0 40 9 22.5 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.041592985 1.041592985 1 0.949055679 0.949055679 1 NA NA 0 NA NA 1 5 NA 1 1 4.64E-13 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 159294082 A T - - - - - - 46 0 0 45 20 44.4 55 18 32.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.055410158 1.167296059 1.760830204 1.783570156 0.891785078 2 NA NA 0 NA NA 1 5 NA 1 1 2.68E-34 1 4.61E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 159560039 T C APCS CCDS1186.1 r.? - - downstream 34 0 0 75 26 34.7 57 23 40.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.606367849 0.912278677 1.760830204 2.203554566 1.101777283 2 NA NA 0 NA NA 1 5 NA 1 1 1.19E-40 1 5.38E-38 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 159686738 G C CRP CCDS30911.1 r.? - - upstream 34 0 0 37 13 35.1 47 20 42.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.624885057 0.922794858 1.760830204 2.323550111 1.161775056 2 NA NA 0 NA NA 1 5 NA 1 1 3.89E-21 1 8.18E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 159851829 T C CCDC19 CCDS30914.1 r.? - - intronic 21 0 0 48 16 33.3 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.541557618 0.875472044 1.760830204 1.445400891 1.445400891 1 NA NA 0 NA NA 1 5 NA 1 1 2.96E-25 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 159888759 G A TAGLN2 CCDS1189.1 r.? - - intronic 22 0 0 47 12 25.5 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.18047205 1.18047205 1 1.232681514 1.232681514 1 NA NA 0 NA NA 1 5 NA 1 1 1.09E-17 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 160011318 T G KCNJ10 CCDS1193.1 r.1232a>c c.1005A>C p.K335N missense 34 0 0 54 15 27.8 40 20 50 293 1 0.3 198 64 32.3 121 54 44.6 TRUE TRUE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.286946 1.286946 1 2.727171492 1.363585746 2 1.495264597 0.849181593 1.760830204 2.432636971 1.216318486 2 5 4 1 0.769769605 2.2E-22 2.19E-95 1.19E-35 3.84E-90 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 1 160138334 G A ATP1A4 CCDS1197.1 r.? - - intronic 17 0 0 39 9 23.1 54 17 31.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.069368798 1.069368798 1 1.71811804 0.85905902 2 NA NA 0 NA NA 1 5 NA 1 1 3.62E-13 1 3.02E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 160145612 C T ATP1A4 CCDS1197.1 r.? - - intronic 35 0 0 43 12 27.9 48 13 27.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.291575302 1.291575302 1 1.478126949 1.478126949 1 NA NA 0 NA NA 1 5 NA 1 1 3.24E-18 1 2E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 160693541 T C - - - - - - 37 0 0 63 27 42.9 43 16 37.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.985970625 1.127860382 1.760830204 2.02901559 1.014507795 2 NA NA 0 NA NA 1 5 NA 1 1 3.06E-45 1 3.56E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 160888405 C T - - - - - - 22 0 0 48 15 31.2 51 21 41.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.444342273 1.444342273 1 2.24718931 1.123594655 2 NA NA 0 NA NA 1 5 NA 1 1 2.86E-23 1 4.73E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 161053854 A C PVRL4 CCDS1216.1 r.? - - intronic 34 0 0 55 10 18.2 44 15 34.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.842532993 0.842532993 1 1.859930958 0.929965479 2 NA NA 0 NA NA 1 5 NA 1 1 2.33E-13 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 161161254 T G ADAMTS4 CCDS1223.1 r.2617a>c c.2188A>C p.K730Q missense 28 0 0 34 16 47.1 29 10 34.5 166 0 0 230 80 34.8 14 0 0 TRUE TRUE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.180401316 1.238280279 1.760830204 1.88174833 0.940874165 2 1.610997151 0.914907722 1.760830204 0 0 1 5 5 1 1 3.09E-28 7.47E-122 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 161358331 C G - - - - - - 25 0 0 54 17 31.5 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.45823018 1.45823018 1 1.619939866 1.619939866 1 NA NA 0 NA NA 1 5 NA 1 1 3.02E-26 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 161450127 A T - - - - - - 29 0 0 54 13 24.1 36 6 16.7 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.11566182 1.11566182 1 0.910875278 0.910875278 1 NA NA 0 NA NA 1 5 NA 1 1 1.12E-18 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 161686313 A T FCRLA CCDS30926.1 r.? - - downstream 29 0 0 47 20 42.6 35 14 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.972082719 1.119973246 1.760830204 2.181737194 1.090868597 2 NA NA 0 NA NA 1 5 NA 1 1 8.18E-34 1 1.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 161928705 T A ATF6 CCDS1235.1 r.2341u>a c.? p.? 3'UTR variant 27 0 0 54 20 37 53 19 35.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.712841798 0.972746716 1.760830204 1.952654788 0.976327394 2 NA NA 0 NA NA 1 5 NA 1 1 2.61E-32 1 1.93E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 161943454 G C - - - - - - 29 0 0 39 14 35.9 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.661919474 0.943827219 1.760830204 1.210864143 1.210864143 1 NA NA 0 NA NA 1 5 NA 1 1 8.19E-23 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 162031340 G A - - - - - - 28 0 0 40 11 27.5 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.273058093 1.273058093 1 1.489035635 1.489035635 1 NA NA 0 NA NA 1 5 NA 1 1 9.88E-17 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 162545601 C A UAP1 CCDS1240.1 r.? - - intronic 30 0 0 33 10 30.3 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.402678554 1.402678554 1 0.741790646 0.741790646 1 NA NA 0 NA NA 1 5 NA 1 1 8.14E-16 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 162920327 C A - - - - - - 41 0 0 50 7 14 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.648102302 0.648102302 1 1.259953229 1.259953229 1 NA NA 0 NA NA 1 5 NA 1 1 6.46E-09 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 163413444 C G - - - - - - 49 0 0 44 9 20.5 37 2 5.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.949006942 0.949006942 1 0.294534521 0.294534521 1 NA NA 0 NA NA 1 5 NA 1 1 1.18E-12 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 163666970 G T - - - - - - 31 0 0 64 21 32.8 49 18 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.518411108 0.862326819 1.760830204 2.001743875 1.000871938 2 NA NA 0 NA NA 1 5 NA 1 1 1.6E-32 1 3.8E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 163742393 C G - - - - - - 40 0 0 43 11 25.6 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.185101352 1.185101352 1 1.227227171 1.227227171 1 NA NA 0 NA NA 1 5 NA 1 1 2.42E-16 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 163754106 C A - - - - - - 37 0 0 37 15 40.5 38 15 39.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.874867374 1.064763297 1.760830204 2.154465479 1.077232739 2 NA NA 0 NA NA 1 5 NA 1 1 2.58E-25 1 4.24E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 163843248 C A - - - - - - 38 0 0 42 11 26.2 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.212877165 1.212877165 1 0.665429844 0.665429844 1 NA NA 0 NA NA 1 5 NA 1 1 1.81E-16 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 163896688 T C - - - - - - 42 0 0 56 19 33.9 42 15 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.569333431 0.891246316 1.760830204 1.947200445 0.973600223 2 NA NA 0 NA NA 1 5 NA 1 1 6.79E-30 1 2.65E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 163952859 G T - - - - - - 35 0 0 53 14 26.4 46 12 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.22213577 1.22213577 1 1.423583519 1.423583519 1 NA NA 0 NA NA 1 5 NA 1 1 1.22E-20 1 8.12E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 164328205 A T - - - - - - 34 0 0 36 5 13.9 47 7 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.643473 0.643473 1 0.812697105 0.812697105 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000104 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 164429979 G T - - - - - - 20 0 0 45 7 15.6 48 5 10.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.722171137 0.722171137 1 0.56725167 0.56725167 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000003 1 0.00000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 164515215 G T - - - - - - 31 0 0 43 12 27.9 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.291575302 1.291575302 1 1.058142539 1.058142539 1 NA NA 0 NA NA 1 5 NA 1 1 3.24E-18 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 164932259 C T - - - - - - 28 0 0 41 18 43.9 50 18 36 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.032263647 1.154150833 1.760830204 1.963563474 0.981781737 2 NA NA 0 NA NA 1 5 NA 1 1 6.91E-31 1 5.92E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 165289924 C A LMX1A CCDS1247.1 r.? - - intronic 33 0 0 47 12 25.5 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.18047205 1.18047205 1 0.883603563 0.883603563 1 NA NA 0 NA NA 1 5 NA 1 1 1.09E-17 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 165337818 C A - - - - - - 26 0 0 38 9 23.7 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.097144611 1.097144611 1 0.758153675 0.758153675 1 NA NA 0 NA NA 1 5 NA 1 1 2.79E-13 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 165520187 T A LRRC52 CCDS30930.1 r.? - - intronic 25 0 0 52 12 23.1 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.069368798 1.069368798 1 1.183592428 1.183592428 1 NA NA 0 NA NA 1 5 NA 1 1 4.19E-17 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 166192169 T C - - - - - - 30 0 0 55 10 18.2 46 1 2.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.842532993 0.842532993 1 0.119995546 0.119995546 1 NA NA 0 NA NA 1 3 NA 1 1 2.33E-13 1 0.205924651 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 166380275 C A - - - - - - 31 0 0 46 14 30.4 32 3 9.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.407307856 1.407307856 1 0.512708241 0.512708241 1 NA NA 0 NA NA 1 5 NA 1 1 1.26E-21 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 166632118 G T - - - - - - 27 0 0 45 20 44.4 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.055410158 1.167296059 1.760830204 1.870839644 0.935419822 2 NA NA 0 NA NA 1 5 NA 1 1 2.68E-34 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 166668486 A T - - - - - - 25 0 0 44 9 20.5 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.949006942 0.949006942 1 0.93269265 0.93269265 1 NA NA 0 NA NA 1 5 NA 1 1 1.18E-12 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 166702894 G T - - - - - - 38 0 0 55 29 52.7 46 15 32.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.439642237 1.385506809 1.760830204 1.778115813 0.889057906 2 NA NA 0 NA NA 1 5 NA 1 1 5.85E-52 1 1.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 166764933 C G - - - - - - 36 0 0 55 13 23.6 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.092515309 1.092515309 1 1.390857461 1.390857461 1 NA NA 0 NA NA 1 5 NA 1 1 1.46E-18 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 167004117 C T - - - - - - 39 0 0 49 19 38.8 51 14 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.796169237 1.020069529 1.760830204 1.499944321 1.499944321 1 NA NA 0 NA NA 1 5 NA 1 1 3.12E-31 1 6.64E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 167384585 G C POU2F1 CCDS1259.1 r.? - - intronic 31 0 0 50 8 16 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.740688345 0.740688345 1 0.779971047 0.779971047 1 NA NA 0 NA NA 1 5 NA 1 1 1.74E-10 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 167477478 A G CD247 CCDS1260.1 r.? - - intronic 39 0 0 44 12 27.3 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.263799489 1.263799489 1 0.779971047 0.779971047 1 NA NA 0 NA NA 1 5 NA 1 1 4.44E-18 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 167499841 C T - - - - - - 28 0 0 53 13 24.5 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.134179029 1.134179029 1 0.709064588 0.709064588 1 NA NA 0 NA NA 1 5 NA 1 1 8.53E-19 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 167844950 A G ADCY10 CCDS1265.1 r.? - - intronic 25 0 0 48 9 18.8 53 11 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.870308806 0.870308806 1 1.134503341 1.134503341 1 NA NA 0 NA NA 1 5 NA 1 1 2.75E-12 1 3.07E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 168047571 G C DCAF6 CCDS1267.2 r.? - - downstream 29 0 0 54 18 33.3 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.541557618 0.875472044 1.760830204 1.51630735 1.51630735 1 NA NA 0 NA NA 1 5 NA 1 1 3.12E-28 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 168335255 G A - - - - - - 43 0 0 48 12 25 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.157325539 1.157325539 1 1.259953229 1.259953229 1 NA NA 0 NA NA 1 5 NA 1 1 1.44E-17 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 168674757 G A DPT CCDS1275.1 r.? - - intronic 45 0 0 49 7 14.3 55 9 16.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.661990208 0.661990208 1 0.894512249 0.894512249 1 NA NA 0 NA NA 1 5 NA 1 1 5.58E-09 1 1.01E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 168794734 A G - - - - - - 45 0 0 44 9 20.5 62 13 21 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.949006942 0.949006942 1 1.145412027 1.145412027 1 NA NA 0 NA NA 1 5 NA 1 1 1.18E-12 1 8.08E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 169019761 G C - - - - - - 37 0 0 45 10 22.2 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.027705079 1.027705079 1 0.949055679 0.949055679 1 NA NA 0 NA NA 1 5 NA 1 1 2.66E-14 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 169325448 C T NME7 CCDS1277.1 r.? - - intronic 51 0 0 54 10 18.5 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.856420899 0.856420899 1 1.194501114 1.194501114 1 NA NA 0 NA NA 1 5 NA 1 1 1.91E-13 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 170178923 C T - - - - - - 40 0 0 50 11 22 50 17 34 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.018446475 1.018446475 1 1.854476615 0.927238307 2 NA NA 0 NA NA 1 5 NA 1 1 1.52E-15 1 6.43E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 170263941 C A - - - - - - 26 0 0 34 14 41.2 46 13 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.907272489 1.083166614 1.760830204 1.543579065 1.543579065 1 NA NA 0 NA NA 1 5 NA 1 1 7.74E-24 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 170468727 G C - - - - - - 32 0 0 59 9 15.3 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.70828323 0.70828323 1 1.156320713 1.156320713 1 NA NA 0 NA NA 1 5 NA 1 1 1.96E-11 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 170587837 T A - - - - - - 22 0 0 53 13 24.5 58 12 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.134179029 1.134179029 1 1.129048998 1.129048998 1 NA NA 0 NA NA 1 5 NA 1 1 8.53E-19 1 1.76E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 170802308 G C - - - - - - 35 0 0 39 8 20.5 61 14 23 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.949006942 0.949006942 1 1.254498886 1.254498886 1 NA NA 0 NA NA 1 5 NA 1 1 2.09E-11 1 1.1E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 170868367 A G - - - - - - 43 0 0 51 7 13.7 53 9 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.634214396 0.634214396 1 0.927238307 0.927238307 1 NA NA 0 NA NA 1 5 NA 1 1 7.46E-09 1 7.1E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 171251247 G C FMO1 CCDS1294.1 r.1089g>c c.958G>C p.E320Q missense 42 0 0 58 25 43.1 52 15 28.8 246 0 0 147 49 33.3 54 31 57.4 TRUE TRUE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.99522923 1.133118472 1.760830204 1.57085078 0.78542539 2 1.541557618 0.875472044 1.760830204 3.130792873 1.565396437 2 5 4 1 1 4.44E-42 3.31E-74 1.15E-22 4.52E-57 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 1 171267934 G A - - - - - - 30 0 0 42 14 33.3 45 23 51.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.541557618 0.875472044 1.760830204 2.787169265 1.393584633 2 NA NA 0 NA NA 1 5 NA 1 1 2.83E-22 1 4.42E-41 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 171369853 C T - - - - - - 37 0 0 49 17 34.7 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.606367849 0.912278677 1.760830204 1.167229399 1.167229399 1 NA NA 0 NA NA 1 5 NA 1 1 4.26E-27 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 171608039 G C MYOC CCDS1297.1 r.? - - intronic 30 0 0 51 25 49 63 22 34.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.268358057 1.288232138 1.760830204 1.903565702 0.951782851 2 NA NA 0 NA NA 1 5 NA 1 1 6.52E-44 1 1.03E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 171748604 C T METTL13 CCDS1299.1 r.? - - upstream 36 0 0 49 16 32.7 37 16 43.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.513781805 0.859697773 1.760830204 2.356276169 1.178138085 2 NA NA 0 NA NA 1 5 NA 1 1 4.37E-25 1 1.78E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 172049734 T A DNM3 CCDS44276.1 r.? - - intronic 24 0 0 42 8 19 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.87956741 0.87956741 1 0.779971047 0.779971047 1 NA NA 0 NA NA 1 5 NA 1 1 3.96E-11 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 172506544 C T C1orf9 CCDS1303.1 r.? - - intronic 34 0 0 59 23 39 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.805427841 1.02532762 1.760830204 1.690846325 0.845423163 2 NA NA 0 NA NA 1 5 NA 1 1 1.45E-37 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 172566141 C G C1orf9 CCDS1303.1 r.? - - intronic 35 0 0 35 7 20 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.925860431 0.925860431 1 1.723572383 0.861786192 2 NA NA 0 NA NA 1 5 NA 1 1 4.65E-10 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 172806180 T G - - - - - - 44 0 0 36 9 25 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.157325539 1.157325539 1 1.51630735 1.51630735 1 NA NA 0 NA NA 1 5 NA 1 1 1.63E-13 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 173314060 C T AL022310.2 ENST00000421168 r.? - - intronic 30 0 0 52 12 23.1 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.069368798 1.069368798 1 0.758153675 0.758153675 1 NA NA 0 NA NA 1 5 NA 1 1 4.19E-17 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 173685175 C T KLHL20 CCDS1310.1 r.129c>u c.? p.? 5'UTR variant 37 0 0 49 11 22.4 51 8 15.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.036963683 1.036963683 1 0.856331849 0.856331849 1 NA NA 0 NA NA 1 5 NA 1 1 1.19E-15 1 2.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 173961154 T G RC3H1 CCDS30940.1 r.? - - intronic 36 0 0 40 5 12.5 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.57866277 0.57866277 1 1.058142539 1.058142539 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000178 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 174374887 G T RABGAP1L CCDS1314.1 r.? - - intronic 33 0 0 61 12 19.7 56 10 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.911972525 0.911972525 1 0.976327394 0.976327394 1 NA NA 0 NA NA 1 5 NA 1 1 3.39E-16 1 2.82E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 174528555 C A RABGAP1L CCDS1314.1 r.? - - intronic 37 0 0 45 16 35.6 46 20 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.648031568 0.935940084 1.760830204 2.372639198 1.186319599 2 NA NA 0 NA NA 1 5 NA 1 1 8.61E-26 1 4.72E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 175142096 C T - - - - - - 34 0 0 53 17 32.1 50 22 44 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.486005992 0.843923502 1.760830204 2.399910913 1.199955457 2 NA NA 0 NA NA 1 5 NA 1 1 2.08E-26 1 1.85E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 175531296 C G TNR CCDS1318.1 r.? - - intronic 28 0 0 51 10 19.6 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.907343223 0.907343223 1 0.83996882 0.83996882 1 NA NA 0 NA NA 1 5 NA 1 1 1.04E-13 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 175651875 G T TNR CCDS1318.1 r.? - - intronic 30 0 0 37 6 16.2 40 5 12.5 0 0 NA 0 0 NA 2 2 100 TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.749946949 0.749946949 1 0.681792873 0.681792873 1 NA NA 0 5.454342984 2.727171492 2 5 NA 1 1 3.18E-08 1 0.00000178 0.000025 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 175800214 G T - - - - - - 36 0 0 49 16 32.7 53 17 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.513781805 0.859697773 1.760830204 1.750844098 0.875422049 2 NA NA 0 NA NA 1 5 NA 1 1 4.37E-25 1 2.08E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 176402230 A C - - - - - - 26 0 0 40 8 20 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.925860431 0.925860431 1 0.861786192 0.861786192 1 NA NA 0 NA NA 1 5 NA 1 1 2.61E-11 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 176974511 T A ASTN1 CCDS1319.1 r.? - - intronic 31 0 0 47 15 31.9 39 13 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.476747388 1.476747388 1 1.816296214 0.908148107 2 NA NA 0 NA NA 1 5 NA 1 1 1.97E-23 1 8.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 177026752 G T ASTN1 CCDS1319.1 r.? - - intronic 44 0 0 44 19 43.2 47 14 29.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.999858532 1.135747517 1.760830204 1.625394209 0.812697105 2 NA NA 0 NA NA 1 5 NA 1 1 2.39E-32 1 1.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 177121801 G A ASTN1 CCDS1319.1 r.? - - intronic 48 0 0 50 10 20 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.925860431 0.925860431 1 1.46176392 1.46176392 1 NA NA 0 NA NA 1 5 NA 1 1 8.36E-14 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 177160878 C T FAM5B CCDS1320.1 r.? - - intronic 27 0 0 34 12 35.3 45 16 35.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.634143662 0.928052948 1.760830204 1.941746102 0.970873051 2 NA NA 0 NA NA 1 5 NA 1 1 1.21E-19 1 8.61E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 177491724 T A - - - - - - 28 0 0 51 8 15.7 54 16 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.726800439 0.726800439 1 1.614485523 0.807242762 2 NA NA 0 NA NA 1 5 NA 1 1 2.05E-10 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 177509863 A T - - - - - - 38 0 0 40 17 42.5 39 13 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.967453417 1.117344201 1.760830204 1.816296214 0.908148107 2 NA NA 0 NA NA 1 5 NA 1 1 6.07E-29 1 8.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 177512520 A G - - - - - - 38 0 0 48 8 16.7 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.77309346 0.77309346 1 1.134503341 1.134503341 1 NA NA 0 NA NA 1 5 NA 1 1 1.23E-10 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 177778927 C A - - - - - - 29 0 0 47 5 10.6 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.490706029 0.644961289 0.760830204 0.910875278 0.910875278 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000402 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 177916267 A G SEC16B CCDS44281.1 r.? - - intronic 38 0 0 44 6 13.6 62 9 14.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.629585093 0.629585093 1 0.790879733 0.790879733 1 NA NA 0 NA NA 1 5 NA 1 1 9.37E-08 1 3.12E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 177981871 G A SEC16B ENST00000239472 r.? - - intronic 33 0 0 45 11 24.4 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.129549726 1.129549726 1 1.690846325 0.845423163 2 NA NA 0 NA NA 1 5 NA 1 1 4.24E-16 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 179076647 C G ABL2 CCDS41441.1 r.3679g>c c.? p.? 3'UTR variant 27 0 0 72 42 58.3 71 44 62 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.698883158 1.532733339 1.760830204 3.38169265 1.690846325 2 NA NA 0 NA NA 1 5 NA 1 1 3.23E-77 1 1.46E-82 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 179087909 G A ABL2 CCDS41441.1 r.970-10c>u c.938-10C>T p.? splice region 30 0 0 64 27 42.2 70 24 34.3 166 1 0.6 117 37 31.6 179 9 5 TRUE TRUE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.95356551 1.109457065 1.760830204 1.870839644 0.935419822 2 1.462859482 0.830778276 1.760830204 0.272717149 0.272717149 1 5 5 1 0.564857599 5.28E-45 1.98E-55 1.68E-37 0.000000386 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 1 179396413 T C C1orf125 CCDS30948.1 r.? - - intronic 33 0 0 56 25 44.6 44 14 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.064668762 1.17255415 1.760830204 1.734481069 0.867240535 2 NA NA 0 NA NA 1 5 NA 1 1 1.43E-42 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 179418688 A G C1orf125 CCDS30948.1 r.? - - intronic 34 0 0 55 8 14.5 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.671248813 0.671248813 1 0.872694878 0.872694878 1 NA NA 0 NA NA 1 5 NA 1 1 3.86E-10 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 181005259 G C MR1 CCDS1342.1 r.? - - intronic 23 0 0 57 14 24.6 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.138808331 1.138808331 1 1.090868597 1.090868597 1 NA NA 0 NA NA 1 5 NA 1 1 3.84E-20 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 181157185 C T - - - - - - 27 0 0 49 6 12.2 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.564774863 0.564774863 1 1.178138085 1.178138085 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000182 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 181295146 C A - - - - - - 29 0 0 50 19 38 28 15 53.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.75913482 0.999037168 1.760830204 2.92352784 1.46176392 2 NA NA 0 NA NA 1 5 NA 1 1 5E-31 1 1.07E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 181614858 T A CACNA1E ENST00000367573 r.? - - intronic 23 0 0 38 10 26.3 57 9 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.217506467 1.217506467 1 0.861786192 0.861786192 1 NA NA 0 NA NA 1 5 NA 1 1 4.06E-15 1 1.42E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 181630801 T C CACNA1E ENST00000367573 r.? - - intronic 35 0 0 49 17 34.7 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.606367849 0.912278677 1.760830204 1.581759465 1.581759465 1 NA NA 0 NA NA 1 5 NA 1 1 4.26E-27 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 181722290 C T CACNA1E ENST00000367573 r.? - - intronic 33 0 0 53 13 24.5 49 9 18.4 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.134179029 1.134179029 1 1.003599109 1.003599109 1 NA NA 0 0 0 1 5 NA 1 1 8.53E-19 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 182335795 C A - - - - - - 18 0 0 59 11 18.6 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.861050201 0.861050201 1 1.330859688 1.330859688 1 NA NA 0 NA NA 1 5 NA 1 1 1.1E-14 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 182432358 G A - - - - - - 32 0 0 41 7 17.1 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.791610669 0.791610669 1 1.249044543 1.249044543 1 NA NA 0 NA NA 1 5 NA 1 1 1.51E-09 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 182448150 A G - - - - - - 41 0 0 43 15 34.9 47 18 38.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.615626453 0.917536767 1.760830204 2.089013363 1.044506682 2 NA NA 0 NA NA 1 5 NA 1 1 4.05E-24 1 1.52E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 182591965 C T - - - - - - 29 0 0 33 5 15.2 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.703653928 0.703653928 1 1.058142539 1.058142539 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000066 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 182707396 G T - - - - - - 28 0 0 41 11 26.8 46 15 32.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.240652978 1.240652978 1 1.778115813 0.889057906 2 NA NA 0 NA NA 1 5 NA 1 1 1.34E-16 1 1.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 182708452 G A - - - - - - 29 0 0 42 7 16.7 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.77309346 0.77309346 1 1.139957684 1.139957684 1 NA NA 0 NA NA 1 5 NA 1 1 1.81E-09 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 182710615 C T - - - - - - 27 0 0 33 11 33.3 2 2 100 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.541557618 1.541557618 1 5.454342984 2.727171492 2 NA NA 0 NA NA 1 5 NA 1 1 8.54E-18 1 0.000025 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 182808336 C T DHX9 CCDS41444.1 r.? - - upstream 31 0 0 33 9 27.3 22 2 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.263799489 1.263799489 1 0.496345212 0.496345212 1 NA NA 0 NA NA 1 5 NA 1 1 6.76E-14 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 183148389 G T - - - - - - 25 0 0 39 5 12.8 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.592550676 0.592550676 1 0.976327394 0.976327394 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000156 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 183179115 C G LAMC2 CCDS1352.1 r.? - - intronic 34 0 0 47 22 46.8 42 17 40.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.16651341 1.230393144 1.760830204 2.209008909 1.104504454 2 NA NA 0 NA NA 1 5 NA 1 1 3.14E-38 1 1.73E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 183223399 T C NMNAT2 CCDS1353.1 r.? - - intronic 32 0 0 44 14 31.8 40 14 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.472118086 1.472118086 1 1.909020045 0.954510022 2 NA NA 0 NA NA 1 5 NA 1 1 6.1E-22 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 183352216 C A NMNAT2 CCDS1353.1 r.? - - intronic 40 0 0 57 6 10.5 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.486076727 0.638876748 0.760830204 0.981781737 0.981781737 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000456 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 183402135 G A - - - - - - 30 0 0 52 18 34.6 43 17 39.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.601738546 0.909649632 1.760830204 2.154465479 1.077232739 2 NA NA 0 NA NA 1 5 NA 1 1 1.39E-28 1 2.84E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 183410652 C G - - - - - - 40 0 0 46 6 13 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.60180928 0.60180928 1 0.632703786 0.632703786 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000123 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 183420869 G A - - - - - - 28 0 0 53 19 35.8 49 18 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.657290172 0.941198174 1.760830204 2.001743875 1.000871938 2 NA NA 0 NA NA 1 5 NA 1 1 1.93E-30 1 3.8E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 183537408 C A NCF2 CCDS1356.1 r.? - - intronic 32 0 0 43 22 51.2 41 17 41.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.370202705 1.346071131 1.760830204 2.263552339 1.131776169 2 NA NA 0 NA NA 1 5 NA 1 1 2.27E-39 1 1.03E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 183638928 G T RGL1 CCDS1359.1 r.? - - intronic 35 0 0 43 12 27.9 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.291575302 1.291575302 1 1.014507795 1.014507795 1 NA NA 0 NA NA 1 5 NA 1 1 3.24E-18 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 183660980 T C RGL1 CCDS1359.1 r.? - - intronic 31 0 0 39 17 43.6 50 22 44 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.018375741 1.146263698 1.760830204 2.399910913 1.199955457 2 NA NA 0 NA NA 1 5 NA 1 1 3.51E-29 1 1.85E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 183704798 A C RGL1 CCDS1359.1 r.? - - intronic 38 1 2.6 51 23 45.1 43 15 34.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 2.087815273 1.185699376 1.760830204 1.903565702 0.951782851 2 NA NA 0 NA NA 1 5 NA 0.173434892 1 2.05E-39 1 4.05E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 184348025 G A - - - - - - 23 0 0 40 9 22.5 51 12 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.041592985 1.041592985 1 1.281770601 1.281770601 1 NA NA 0 NA NA 1 5 NA 1 1 4.64E-13 1 3.24E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 184401709 G C C1orf21 CCDS1362.1 r.? - - intronic 34 0 0 48 10 20.8 44 6 13.6 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.962894849 0.962894849 1 0.741790646 0.741790646 1 NA NA 0 NA NA 1 5 NA 1 1 5.37E-14 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 184704560 G C EDEM3 CCDS1363.2 r.? - - intronic 33 0 0 39 13 33.3 50 11 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.541557618 1.541557618 1 1.199955457 1.199955457 1 NA NA 0 NA NA 1 5 NA 1 1 8.79E-21 1 1.52E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 184773113 G C FAM129A CCDS1364.1 r.? - - intronic 35 0 0 51 22 43.1 48 14 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.99522923 1.133118472 1.760830204 1.592668151 0.796334076 2 NA NA 0 NA NA 1 5 NA 1 1 3.24E-37 1 2.51E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 185039216 G T RNF2 CCDS1365.1 r.? - - intronic 30 0 0 55 23 41.8 61 20 32.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.935048302 1.098940885 1.760830204 1.789024499 0.894512249 2 NA NA 0 NA NA 1 5 NA 1 1 1.91E-38 1 4.89E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 185619729 G T - - - - - - 36 0 0 56 19 33.9 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.569333431 0.891246316 1.760830204 1.559942094 1.559942094 1 NA NA 0 NA NA 1 5 NA 1 1 6.79E-30 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 185791154 A G HMCN1 CCDS30956.1 r.? - - intronic 33 0 0 41 10 24.4 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.129549726 1.129549726 1 0.605432071 0.605432071 1 NA NA 0 NA NA 1 5 NA 1 1 9.51E-15 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 185864624 C T HMCN1 CCDS30956.1 r.? - - intronic 49 0 0 51 22 43.1 49 22 44.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.99522923 1.133118472 1.760830204 2.449 1.2245 2 NA NA 0 NA NA 1 5 NA 1 1 3.24E-37 1 1.04E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 185954775 T G HMCN1 CCDS30956.1 r.? - - intronic 54 0 0 50 21 42 51 15 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.944306906 1.104198975 1.760830204 1.603576837 0.801788419 2 NA NA 0 NA NA 1 5 NA 1 1 2.79E-35 1 8.22E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 186004819 G C HMCN1 CCDS30956.1 r.? - 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- - - - - 27 0 0 36 10 27.8 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.176252862 1.176252862 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 194433376 T A - - - - - - 35 0 0 47 9 19.1 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.808144952 0.808144952 1 0.543429844 0.543429844 1 NA NA 0 NA NA 0 5 NA 1 1 2.24E-12 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 194485922 A T - - - - - - 48 0 0 49 10 20.4 39 14 35.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.863149582 0.863149582 1 1.599109131 1.599109131 1 NA NA 0 NA NA 0 5 NA 1 1 6.72E-14 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 194520231 G A - - - - - - 32 0 0 45 13 28.9 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.222795242 1.222795242 1 0.587973274 0.587973274 1 NA NA 0 NA NA 1 5 NA 1 1 7.68E-20 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 194809542 A G - 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- - - - - 32 0 0 45 7 15.6 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.660055563 0.660055563 1 0.966592428 0.966592428 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000003 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 195428131 A T - - - - - - 32 0 0 41 9 22 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.930847589 0.930847589 1 1.055679287 1.055679287 1 NA NA 1 NA NA 0 5 NA 1 1 5.92E-13 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 195536414 A T - - - - - - 31 0 0 43 10 23.3 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.985852219 0.985852219 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 195735406 T C AL353709.1 ENST00000513624 r.? - - upstream 22 0 0 24 5 20.8 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.880074084 0.880074084 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 195878492 A G - - - - - - 32 0 0 33 13 39.4 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.667063409 1.223394994 1.36265345 0.68596882 0.68596882 1 NA NA 0 NA NA 1 5 NA 1 1 6.37E-22 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 196077287 A G - - - - - - 42 0 0 57 9 15.8 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.668517814 0.668517814 1 0.76169265 0.76169265 1 NA NA 0 NA NA 1 5 NA 1 1 1.42E-11 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 196503107 G T KCNT2 CCDS1384.1 r.? - - intronic 26 0 0 40 13 32.5 46 5 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.375115756 1.375115756 1 0.485523385 0.485523385 1 NA NA 0 NA NA 1 5 NA 1 1 1.3E-20 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 196563371 C A KCNT2 CCDS1384.1 r.? - - intronic 34 0 0 38 6 15.8 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.668517814 0.668517814 1 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 196610078 C G - - - - - - 41 0 0 43 12 27.9 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.180483988 1.180483988 1 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 196716292 G A CFH CCDS1385.1 r.3785g>a c.3545G>A p.R1182K missense 47 0 0 32 6 18.8 29 6 20.7 157 0 0 82 28 34.1 321 49 15.3 TRUE TRUE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.795451576 0.795451576 1 0.922048998 0.922048998 1 1.442813763 1.058826632 1.36265345 0.681514477 0.681514477 1 5 6 1 1 1.27E-08 1.94E-43 6.72E-09 1.06E-55 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 1 196973356 G T CFHR5 CCDS1387.1 r.? - - intronic 42 0 0 39 12 30.8 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.303186624 1.303186624 1 1.300668151 1.300668151 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 197006747 A T F13B CCDS1388.1 r.? - - downstream 39 0 0 46 13 28.3 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.197408489 1.197408489 1 1.011135857 1.011135857 1 NA NA 1 NA NA 0 5 NA 1 1 1.07E-19 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 197015415 T C F13B CCDS1388.1 r.? - - intronic 25 0 0 50 17 34 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.438582637 1.438582637 1 0.76169265 0.76169265 1 NA NA 1 NA NA 0 5 NA 1 1 6.43E-27 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 198057608 C G - - - - - - 47 0 0 57 15 26.3 42 16 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.112785981 1.112785981 1 1.697104677 1.697104677 1 NA NA 0 NA NA 1 5 NA 1 1 5.53E-22 1 2.25E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 198659021 C G PTPRC CCDS1397.1 r.? - - intronic 26 0 0 48 12 25 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.057781351 1.057781351 1 0.766146993 0.766146993 1 NA NA 1 NA NA 0 5 NA 1 1 1.44E-17 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 198740249 C T - - - - - - 24 0 0 47 15 31.9 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.349729004 1.349729004 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.97E-23 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 198967094 A C - - - - - - 35 1 2.9 49 15 30.6 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.294724374 1.294724374 1 1.046770601 1.046770601 1 NA NA 1 NA NA 0 5 NA 0.16091139 1 4.1E-23 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 199159890 G T - - - - - - 29 0 0 42 11 26.2 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.108554856 1.108554856 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 199195956 T C - - - - - - 35 0 0 60 6 10 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.42311254 1.166713125 0.36265345 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000621 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 199288224 C T - - - - - - 35 0 0 52 18 34.6 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.46396939 1.074351949 1.36265345 0.913140312 0.913140312 1 NA NA 1 NA NA 0 5 NA 1 1 1.39E-28 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 199371799 T G - - - - - - 38 0 0 44 10 22.7 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.960465467 0.960465467 1 0.726057906 0.726057906 1 NA NA 1 NA NA 0 5 NA 1 1 2.08E-14 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 199382198 A C - - - - - - 37 0 0 47 15 31.9 40 14 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.349729004 1.349729004 1 1.559020045 1.559020045 1 NA NA 1 NA NA 0 5 NA 1 1 1.97E-23 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 199502280 G A - - - - - - 48 0 0 50 15 30 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.269337621 1.269337621 1 0.636971047 0.636971047 1 NA NA 1 NA NA 0 5 NA 1 1 5.83E-23 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 199607244 G A - - - - - - 34 0 0 37 6 16.2 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.685442315 0.685442315 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-08 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 199737699 C T - - - - - - 30 0 0 49 15 30.6 33 8 24.2 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.294724374 1.294724374 1 1.077951002 1.077951002 1 NA NA 1 0 0 1 5 NA 1 1 4.1E-23 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 199758912 T C - - - - - - 38 0 0 45 8 17.8 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.753140322 0.753140322 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 199893854 C T - - - - - - 39 0 0 47 18 38.3 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.62052103 1.189239296 1.36265345 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-29 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 199902329 G A - - - - - - 40 0 0 41 17 41.5 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.755917043 1.288601326 1.36265345 1.140311804 1.140311804 1 NA NA 1 NA NA 0 5 NA 1 1 1.03E-28 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 200070523 G T NR5A2 CCDS1401.1 r.? - - intronic 47 0 0 41 7 17.1 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.723522444 0.723522444 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 200157848 A G - - - - - - 26 0 0 43 6 14 29 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.592357557 0.592357557 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 8.13E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 200196462 G C - - - - - - 36 0 0 49 19 38.8 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.641676657 1.204764613 1.36265345 1.322939866 1.322939866 1 NA NA 1 NA NA 0 5 NA 1 1 3.12E-31 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 200207943 C A - - - - - - 40 0 0 42 12 28.6 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.210101866 1.210101866 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 200297373 T G - - - - - - 25 0 0 36 11 30.6 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.294724374 1.294724374 1 1.113585746 1.113585746 1 NA NA 1 NA NA 0 5 NA 1 1 2.62E-17 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 200479455 A C - - - - - - 26 0 0 47 21 44.7 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.891313056 1.387963356 1.36265345 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 5.29E-36 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 201369109 G C TNNI1 CCDS1411.1 r.? - - downstream 36 0 0 46 20 43.5 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.840539551 1.350702594 1.36265345 1.14922049 1.14922049 1 NA NA 1 NA NA 0 5 NA 1 1 4.72E-34 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 201552229 G T - - - - - - 40 0 0 44 14 31.8 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.345497878 1.345497878 1 0.948775056 0.948775056 1 NA NA 1 NA NA 1 5 NA 1 1 6.1E-22 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 201759357 T C NAV1 CCDS1414.1 r.? - - intronic 36 0 0 50 11 22 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.930847589 0.930847589 1 0.948775056 0.948775056 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 201774218 A C NAV1 CCDS1414.1 r.? - - intronic 35 0 0 46 13 28.3 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.197408489 1.197408489 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 1.07E-19 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 201875547 A C LMOD1 ENST00000367288 r.? - - intronic 30 0 0 32 13 40.6 39 7 17.9 0 0 NA 2 2 100 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.717836914 1.260655755 1.36265345 0.797327394 0.797327394 1 4.231125404 3.105063436 1.36265345 NA NA 1 5 NA 1 1 3.88E-22 0.000025 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 202641362 G C SYT2 CCDS1427.1 r.? - - intronic 36 0 0 46 12 26.1 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.10432373 1.10432373 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 202683980 T A SYT2 CCDS1427.1 r.? - - upstream 25 0 0 46 13 28.3 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.197408489 1.197408489 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 1.07E-19 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 202867727 T C KLHL12 CCDS1429.1 r.? - - intronic 26 0 0 37 12 32.4 49 14 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.370884631 1.370884631 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 3.5E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 203103924 A C ADORA1 CCDS1434.1 r.? - - intronic 23 0 0 36 9 25 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.057781351 1.057781351 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 203294662 G A - 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- intronic 26 0 0 49 18 36.7 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.552823023 1.139558281 1.36265345 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 3.8E-29 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 205836196 A G - - - - - - 23 0 0 34 8 23.5 51 13 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.99431447 0.99431447 1 1.135857461 1.135857461 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 4.87E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 206231756 T A AVPR1B CCDS30994.1 r.? - - downstream 24 0 0 46 21 45.7 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.93362431 1.41901399 1.36265345 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 2.94E-36 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 207923913 A T CD46 CCDS1485.1 r.? - - upstream 40 0 0 45 11 24.4 44 14 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.032394599 1.032394599 1 1.416481069 1.416481069 1 NA NA 1 NA NA 0 5 NA 1 1 4.24E-16 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 208270577 C G PLXNA2 CCDS31013.1 r.? - - intronic 34 0 0 46 9 19.6 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.829300579 0.829300579 1 0.841870824 0.841870824 1 NA NA 1 NA NA 0 5 NA 1 1 1.82E-12 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 208682729 G T - - - - - - 29 0 0 43 14 32.6 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.379346882 1.379346882 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 208829974 A G - - - - - - 31 0 0 39 11 28.2 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.193177364 1.193177364 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 208830308 C T - - - - - - 24 0 0 40 7 17.5 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.740446946 0.740446946 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 208948513 T C - 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- - - - - 34 0 0 49 19 38.8 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.641676657 1.204764613 1.36265345 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 3.12E-31 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 210509936 T A HHAT CCDS1495.1 r.? - - intronic 30 0 0 28 7 25 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.057781351 1.057781351 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 210738012 G C HHAT CCDS1495.1 r.? - - intronic 33 0 0 45 14 31.1 25 9 36 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.315880001 1.315880001 1 1.603563474 1.603563474 1 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 3.71E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 210980257 G C KCNH1 CCDS31015.1 r.? - - intronic 20 0 0 22 5 22.7 17 3 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.960465467 0.960465467 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 7.67E-08 1 0.0000807 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 211217397 C G KCNH1 CCDS31015.1 r.? - - intronic 38 0 0 55 10 18.2 31 6 19.4 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.770064824 0.770064824 1 0.864142539 0.864142539 1 NA NA 1 NA NA 0 5 NA 1 1 2.33E-13 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 211253788 T C KCNH1 CCDS31015.1 r.? - - intronic 37 0 0 42 10 23.8 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.007007846 1.007007846 1 1.398663697 1.398663697 1 NA NA 1 NA NA 0 5 NA 1 1 1.24E-14 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 211445468 G C RCOR3 CCDS44312.1 r.? - - intronic 32 0 0 40 11 27.5 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.163559486 1.163559486 1 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 211722992 T A - - - - - - 31 0 0 57 17 29.8 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.26087537 1.26087537 1 0.779510022 0.779510022 1 NA NA 1 NA NA 1 5 NA 1 1 8.82E-26 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 211768919 G C - - - - - - 33 0 0 56 12 21.4 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.905460836 0.905460836 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-16 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 212000116 T C LPGAT1 CCDS31018.1 r.? - - intronic 31 0 0 44 8 18.2 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.770064824 0.770064824 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 212431083 G C - - - - - - 36 0 0 53 18 34 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.438582637 1.438582637 1 1.19376392 1.19376392 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-28 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 213558623 G C - - - - - - 37 0 0 44 8 18.2 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.770064824 0.770064824 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 213605996 C G - 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- intronic 36 0 0 53 14 26.4 49 12 24.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.117017107 1.117017107 1 1.091314031 1.091314031 1 NA NA 1 NA NA 1 5 NA 1 1 1.22E-20 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 214408765 C A - - - - - - 38 0 0 52 14 26.9 56 12 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.138172734 1.138172734 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 9.04E-21 1 1.11E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 214780835 C T CENPF CCDS31023.1 r.? - - intronic 28 0 0 43 19 44.2 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.870157429 1.372438038 1.36265345 1.305122494 1.305122494 1 NA NA 1 NA NA 0 5 NA 1 1 1.36E-32 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 214924509 T C - - - - - - 38 0 0 49 9 18.4 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.778527074 0.778527074 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-12 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 215139240 T A - - - - - - 41 0 0 40 7 17.5 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.740446946 0.740446946 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 215515577 T A - - - - - - 46 0 0 39 11 28.2 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.193177364 1.193177364 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 216010871 T C USH2A CCDS31025.1 r.? - - intronic 40 1 2.5 49 14 28.6 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.210101866 1.210101866 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 0.181679879 1 3.5E-21 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 216119825 C G USH2A CCDS31025.1 r.? - - intronic 27 0 0 38 11 28.9 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.222795242 1.222795242 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 216228499 A C USH2A CCDS31025.1 r.? - - intronic 37 0 0 46 9 19.6 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.829300579 0.829300579 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 216252079 G T USH2A CCDS31025.1 r.? - - intronic 31 0 0 52 18 34.6 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.46396939 1.074351949 1.36265345 0.605790646 0.605790646 1 NA NA 1 NA NA 1 5 NA 1 1 1.39E-28 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 216515024 A G USH2A CCDS31025.1 r.? - - intronic 29 0 0 45 14 31.1 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.315880001 1.315880001 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 216811295 T G ESRRG CCDS1517.1 r.? - - intronic 41 0 0 41 16 39 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.650138908 1.21097474 1.36265345 1.532293987 1.532293987 1 NA NA 1 NA NA 1 5 NA 1 1 1.4E-26 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 217172408 G A ESRRG CCDS1517.1 r.? - - intronic 32 0 0 36 11 30.6 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.294724374 1.294724374 1 1.037861915 1.037861915 1 NA NA 1 NA NA 0 5 NA 1 1 2.62E-17 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 217238070 T A ESRRG CCDS1517.1 r.? - - intronic 43 0 0 51 16 31.4 32 3 9.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.328573377 1.328573377 1 0.418708241 0.418708241 1 NA NA 1 NA NA 1 5 NA 1 1 9.28E-25 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 217944503 C T SPATA17 CCDS1519.1 r.? - - intronic 26 0 0 35 12 34.3 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.451276014 1.451276014 1 1.153674833 1.153674833 1 NA NA 1 NA NA 0 5 NA 1 1 1.83E-19 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 217966911 A G SPATA17 CCDS1519.1 r.? - - intronic 44 0 0 43 14 32.6 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.379346882 1.379346882 1 0.623608018 0.623608018 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 218553306 C T TGFB2 CCDS44318.1 r.? - - intronic 30 0 0 50 17 34 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.438582637 1.438582637 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 6.43E-27 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 218640874 C A - - - - - - 38 0 0 53 9 17 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.719291319 0.719291319 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 7.1E-12 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 218702089 A G C1orf143 ENST00000443836 r.? - - downstream 29 0 0 40 12 30 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.269337621 1.269337621 1 1.305122494 1.305122494 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 218856949 G T - - - - - - 36 0 0 44 13 29.5 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.248181994 1.248181994 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 219033534 T C - - - - - - 40 0 0 38 10 26.3 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.112785981 1.112785981 1 0.516703786 0.516703786 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 219796681 T G - - - - - - 29 0 0 47 17 36.2 45 14 31.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.531667396 1.124032964 1.36265345 1.385300668 1.385300668 1 NA NA 1 NA NA 0 5 NA 1 1 1.81E-27 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 219853461 T G - - - - - - 39 0 0 44 7 15.9 46 12 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.672748939 0.672748939 1 1.162583519 1.162583519 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 8.12E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 219903636 G C - - - - - - 41 0 0 32 14 43.8 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.853232927 1.360017785 1.36265345 0.890868597 0.890868597 1 NA NA 1 NA NA 0 5 NA 1 1 2.65E-24 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 220003527 T C - - - - - - 31 0 0 35 10 28.6 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.210101866 1.210101866 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 220024745 A T - - - - - - 33 0 0 47 14 29.8 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.26087537 1.26087537 1 1.077951002 1.077951002 1 NA NA 1 NA NA 0 5 NA 1 1 1.79E-21 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 220417381 A G RAB3GAP2 CCDS31028.1 r.? - - intronic 47 0 0 47 10 21.3 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.901229711 0.901229711 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 221732795 C A - - - - - - 41 0 0 48 7 14.6 34 3 8.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.617744309 0.617744309 1 0.391982183 0.391982183 1 NA NA 1 NA NA 1 5 NA 1 1 4.81E-09 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 222430470 A G - - - - - - 42 0 0 40 14 35 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.480893891 1.480893891 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-22 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 222927865 T A FAM177B CCDS1535.2 r.? - - downstream 17 0 0 34 7 20.6 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.871611833 0.871611833 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 222929990 G A - - - - - - 29 0 0 39 17 43.6 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.844770676 1.353807658 1.36265345 1.113585746 1.113585746 1 NA NA 1 NA NA 0 5 NA 1 1 3.51E-29 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 223164248 T C DISP1 CCDS1536.1 r.? - - intronic 42 0 0 40 13 32.5 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.375115756 1.375115756 1 1.113585746 1.113585746 1 NA NA 1 NA NA 0 5 NA 1 1 1.3E-20 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 224217027 G T - - - - - - 38 0 0 45 23 51.1 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 2.162105081 1.586687416 1.36265345 1.483296214 1.483296214 1 NA NA 1 NA NA 0 5 NA 1 1 4.42E-41 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 224525976 C G - - - - - - 47 0 0 45 16 35.6 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.506280644 1.105402583 1.36265345 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-26 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 224722083 C G - - - - - - 42 0 0 51 12 23.5 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.99431447 0.99431447 1 1.046770601 1.046770601 1 NA NA 1 NA NA 0 5 NA 1 1 3.24E-17 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 225064429 G A - - - - - - 25 0 0 49 12 24.5 52 12 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.036625724 1.036625724 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 225098694 G C DNAH14 ENST00000445597 r.? - - intronic 35 0 0 32 6 18.8 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.795451576 0.795451576 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 225274891 A C DNAH14 CCDS44321.1 r.? - - intronic 36 0 0 47 24 51.1 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 2.162105081 1.586687416 1.36265345 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 8.6E-43 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 225485053 G C DNAH14 CCDS44321.1 r.? - - intronic 30 0 0 44 9 20.5 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.867380708 0.867380708 1 1.438752784 1.438752784 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 225673327 T A - - - - - - 24 0 0 44 12 27.3 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.155097235 1.155097235 1 0.538975501 0.538975501 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 226134631 G A - - - - - - 36 0 0 40 14 35 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.480893891 1.480893891 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-22 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 226159612 C T - - - - - - 21 0 0 41 9 22 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.930847589 0.930847589 1 1.407572383 1.407572383 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 226902336 C G ITPKB CCDS1555.1 r.? - - intronic 24 0 0 56 12 21.4 46 14 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.905460836 0.905460836 1 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-16 1 1.26E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 227573831 A T - - - - - - 25 0 0 37 8 21.6 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.913923087 0.913923087 1 0.76169265 0.76169265 1 NA NA 1 NA NA 0 5 NA 1 1 1.33E-11 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 227582287 T C - - - - - - 31 0 0 42 9 21.4 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.905460836 0.905460836 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 227924172 G C JMJD4 CCDS1561.1 r.? - - upstream 22 0 0 34 8 23.5 28 3 10.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.99431447 0.99431447 1 0.476614699 0.476614699 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 228265687 C G ARF1 CCDS1565.1 r.? - - upstream 26 0 0 25 9 36 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.523205145 1.523205145 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 228537751 G A OBSCN ENST00000422127 r.18353g>a c.18309G>A p.L6103L silent 41 0 0 39 9 23.1 30 8 26.7 133 0 0 203 43 21.2 7 3 42.9 TRUE TRUE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.977389968 0.977389968 1 1.189309577 1.189309577 1 0.896998586 0.896998586 1 1.91091314 1.91091314 1 5 4 1 1 3.62E-13 1.19E-55 2.07E-12 0.00000431 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 229227819 A T - - - - - - 31 0 0 30 13 43.3 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.8320773 1.344492468 1.36265345 0.890868597 0.890868597 1 NA NA 1 NA NA 0 5 NA 1 1 1.35E-22 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 229262164 G A - - - - - - 23 0 0 43 11 25.6 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.083168103 1.083168103 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 229412056 T C RAB4A CCDS31050.1 r.? - - intronic 25 0 0 38 7 18.4 25 9 36 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.778527074 0.778527074 1 1.603563474 1.603563474 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 3.71E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 229416996 T A RAB4A CCDS31050.1 r.? - - intronic 34 0 0 47 18 38.3 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.62052103 1.189239296 1.36265345 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-29 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 229471053 G C C1orf96 CCDS1577.1 r.? - - intronic 22 0 0 39 18 46.2 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.954779937 1.434539307 1.36265345 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 2.15E-31 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 229908855 G T - - - - - - 34 0 0 35 12 34.3 32 6 18.8 140 0 0 89 12 13.5 43 4 9.3 TRUE TRUE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.451276014 1.451276014 1 0.837416481 0.837416481 1 0.57120193 0.57120193 1 0.414253898 0.414253898 1 5 5 1 1 1.83E-19 4.06E-14 1.27E-08 0.000066 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 1 229908931 T A - - - - - - 45 0 0 38 11 28.9 39 10 25.6 87 0 0 55 15 27.3 27 1 3.7 TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.222795242 1.222795242 1 1.140311804 1.140311804 1 1.155097235 1.155097235 1 0.16481069 NA 0 5 NA 1 1 5.19E-17 3.01E-22 5.44E-15 0.126579904 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9776b 1 229980150 G T - - - - - - 35 0 0 48 8 16.7 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.706597942 0.706597942 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-10 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 230014536 G A - - - - - - 35 0 0 49 12 24.5 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.036625724 1.036625724 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 230191630 C T - - - - - - 34 0 0 41 9 22 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.930847589 0.930847589 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 230481774 C T PGBD5 CCDS1583.1 r.? - - intronic 33 0 0 37 11 29.7 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.256644245 1.256644245 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 230492117 G A PGBD5 CCDS1583.1 r.? - - intronic 40 0 0 42 14 33.3 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.40896476 1.40896476 1 1.055679287 1.055679287 1 NA NA 1 NA NA 0 5 NA 1 1 2.83E-22 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 230516617 C T PGBD5 CCDS1583.1 r.? - - upstream 42 0 0 31 13 41.9 40 14 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.772841544 1.301021579 1.36265345 1.559020045 1.559020045 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 230744307 C A - - - - - - 22 0 0 38 8 21.1 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.89276746 0.89276746 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 230875232 A T - - - - - - 33 0 0 45 14 31.1 22 11 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.315880001 1.315880001 1 2.227171492 2.227171492 1 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 3.27E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 230882620 C A CAPN9 CCDS31053.1 r.? - - upstream 24 0 0 42 7 16.7 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.706597942 0.706597942 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 231046198 A C TTC13 CCDS1588.1 r.? - - intronic 43 0 0 41 17 41.5 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.755917043 1.288601326 1.36265345 1.398663697 1.398663697 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-28 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 231119675 A T ARV1 CCDS1589.1 r.? - - intronic 29 0 0 40 7 17.5 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.740446946 0.740446946 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 231232763 T C - - - - - - 33 0 0 40 9 22.5 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.952003216 0.952003216 1 1.380846325 1.380846325 1 NA NA 1 NA NA 0 5 NA 1 1 4.64E-13 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 231446721 G A - - - - - - 30 0 0 33 5 15.2 24 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.643131061 0.643131061 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000066 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 231550776 G A EGLN1 CCDS1595.1 r.? - - intronic 27 0 0 49 13 26.5 42 4 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.121248232 1.121248232 1 0.423162584 0.423162584 1 NA NA 1 NA NA 1 5 NA 1 1 2.71E-19 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 231658072 A T - - - - - - 18 0 0 47 11 23.4 40 4 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.990083345 0.990083345 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 7.21E-16 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 232150395 C G DISC1 ENST00000439617 r.? - - intronic 23 0 0 53 11 20.8 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.880074084 0.880074084 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 3.07E-15 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 232207973 C T - - - - - - 26 0 0 44 8 18.2 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.770064824 0.770064824 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 232445114 A C - - - - - - 36 0 0 54 11 20.4 49 12 24.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.863149582 0.863149582 1 1.091314031 1.091314031 1 NA NA 1 NA NA 0 5 NA 1 1 3.84E-15 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 232760795 G T - - - - - - 35 0 0 41 10 24.4 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.032394599 1.032394599 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 233172483 C G PCNXL2 CCDS44335.1 r.? - - intronic 37 0 0 34 15 44.1 49 10 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.865926303 1.369332975 1.36265345 0.908685969 0.908685969 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-26 1 6.72E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 233746396 G T KCNK1 CCDS1599.1 r.? - - upstream 45 0 0 37 8 21.6 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 234168653 T A SLC35F3 CCDS1600.1 r.? - - intronic 45 0 0 41 5 12.2 27 2 7.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.471953578 0.471953578 1 0.329621381 0.329621381 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000202 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 234272949 A T SLC35F3 CCDS1600.1 r.? - - intronic 23 0 0 33 9 27.3 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.563474388 1.563474388 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 235029178 C T - - - - - - 32 0 0 42 10 23.8 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 235862567 G C LYST CCDS31062.1 r.? - - intronic 26 0 0 51 12 23.5 25 2 8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 0.356347439 0.356347439 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-17 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 236073428 C T - - - - - - 29 0 0 39 7 17.9 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 236087309 A G - - - - - - 35 0 0 46 15 32.6 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-23 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 236332366 C T GPR137B CCDS1609.1 r.? - - intronic 30 0 0 45 16 35.6 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.377176015 1.377176015 1 1.550111359 1.550111359 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-26 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 236494088 C T - - - - - - 32 0 0 34 9 26.5 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 236576922 G A EDARADD CCDS31065.1 r.? - - intronic 36 0 0 47 19 40.4 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.562862669 1.562862669 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 1.16E-31 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 236744359 C A HEATR1 CCDS31066.1 r.? - - intronic 32 0 0 26 4 15.4 45 15 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000856 1 9.14E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 236778571 A T - - - - - - 27 0 0 42 10 23.8 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 236813552 T C - - - - - - 33 0 0 46 17 37 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.431334623 1.431334623 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 1.16E-27 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 236901821 C T ACTN2 CCDS1613.1 r.? - - intronic 32 0 0 44 8 18.2 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 237090146 G A - - - - - - 43 0 0 35 7 20 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.85077951 0.85077951 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 237153869 C T - - - - - - 31 0 0 55 16 29.1 26 3 11.5 0 0 NA 1 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.125725338 1.125725338 1 0.512249443 0.512249443 1 0 0 1 NA NA 1 5 NA 1 1 3.78E-24 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 237398974 A C RYR2 ENST00000366574 r.? - - intronic 34 0 0 39 12 30.8 41 13 31.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 1.412026726 1.412026726 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 1.89E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 238418699 T C - - - - - - 26 0 0 51 11 21.6 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-15 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 238544951 G A - - - - - - 38 0 0 38 12 31.6 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 238715913 G T - - - - - - 31 0 0 40 9 22.5 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 238797052 A G - - - - - - 39 0 0 41 17 41.5 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.605415861 1.605415861 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-28 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 238805682 C A - - - - - - 27 0 0 25 7 28 22 4 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.083172147 1.083172147 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 238855029 G A - - - - - - 41 0 0 44 13 29.5 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 238940414 T G - - - - - - 39 0 0 53 21 39.6 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.531914894 1.531914894 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-34 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 239280286 C T - - - - - - 43 0 0 38 13 34.2 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 239484020 C G - - - - - - 45 0 0 38 9 23.7 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 239528554 A C - - - - - - 34 0 0 42 10 23.8 50 14 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 4.84E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 239729951 A G - - - - - - 40 0 0 33 9 27.3 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 239797627 G A CHRM3 CCDS1616.1 r.? - - intronic 40 0 0 41 12 29.3 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 239964375 C A CHRM3 CCDS1616.1 r.? - - intronic 34 0 0 38 9 23.7 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 240209320 G A FMN2 ENST00000447095 r.? - - intronic 29 0 0 34 7 20.6 29 3 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 0.458797327 0.458797327 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 240306628 G T FMN2 CCDS31069.2 r.? - - intronic 33 0 0 36 7 19.4 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 240339147 T C FMN2 CCDS31069.2 r.? - - intronic 36 0 0 40 8 20 33 3 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.405345212 0.405345212 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 240421142 T C FMN2 CCDS31069.2 r.? - - intronic 50 0 0 32 8 25 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 240470090 G C FMN2 CCDS31069.2 r.? - - intronic 30 0 0 45 10 22.2 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 240567754 T A FMN2 CCDS31069.2 r.? - - intronic 32 0 0 41 10 24.4 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 240726884 C T GREM2 CCDS31070.1 r.? - - intronic 32 0 0 35 8 22.9 35 3 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.383073497 0.383073497 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 240932872 G A - - - - - - 33 0 0 42 8 19 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.735009671 0.735009671 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 241067781 G A RGS7 CCDS31071.1 r.? - - intronic 39 0 0 47 15 31.9 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.234042553 1.234042553 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 1.97E-23 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 241149366 T A RGS7 CCDS31071.1 r.? - - intronic 35 0 0 33 6 18.2 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 241280619 G T RGS7 CCDS31071.1 r.? - - intronic 42 0 0 42 11 26.2 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.013539652 1.013539652 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 241431604 T A RGS7 CCDS31071.1 r.? - - intronic 38 0 0 39 9 23.1 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 241481249 T A RGS7 CCDS31071.1 r.? - - intronic 39 0 0 42 9 21.4 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 241820325 A G WDR64 ENST00000366552 r.? - - intronic 17 0 0 36 8 22.2 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 242111482 T A - - - - - - 37 0 0 39 14 35.9 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.388781431 1.388781431 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 242287164 G T PLD5 CCDS1621.1 r.? - - intronic 26 0 0 41 11 26.8 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 242393663 G A PLD5 CCDS1621.1 r.? - - intronic 33 0 0 37 13 35.1 42 4 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.357833656 1.357833656 1 0.423162584 0.423162584 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 242477647 A T PLD5 CCDS1621.1 r.? - - intronic 30 0 0 32 8 25 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 242586018 A T PLD5 CCDS1621.1 r.? - - intronic 18 0 0 48 7 14.6 40 15 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.564796905 0.564796905 1 1.670378619 1.670378619 1 NA NA 1 NA NA 1 5 NA 1 1 4.81E-09 1 1.09E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 242734244 T C - - - - - - 19 0 0 40 14 35 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.353965184 1.353965184 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-22 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 242794909 C T - - - - - - 31 0 0 36 10 27.8 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 242834125 A G - - - - - - 20 0 0 41 11 26.8 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 242967924 G T - - - - - - 28 0 0 39 14 35.9 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.388781431 1.388781431 1 1.572383073 1.572383073 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 243057324 G C - - - - - - 31 0 0 45 13 28.9 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.064587973 1.064587973 1 NA NA 1 NA NA 1 5 NA 1 1 7.68E-20 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 243146390 A T - - - - - - 19 0 0 29 8 27.6 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 243149483 C T - - - - - - 25 0 0 26 5 19.2 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.742746615 0.742746615 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000188 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 243756329 C T AKT3 CCDS31077.1 r.? - - intronic 34 0 0 37 8 21.6 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 243838443 G A AKT3 CCDS31077.1 r.? - - intronic 42 0 0 32 8 25 33 3 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.405345212 0.405345212 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 243928872 T C AKT3 CCDS31077.1 r.? - - intronic 38 0 0 26 10 38.5 20 7 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.489361702 1.489361702 1 1.559020045 1.559020045 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 5.72E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 244018473 C A - - - - - - 26 0 0 46 13 28.3 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.094777563 1.094777563 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 1.07E-19 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 244389605 G A - - - - - - 36 0 0 35 9 25.7 51 3 5.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 0.262806236 0.262806236 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 0.002175924 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 244488997 T C - - - - - - 36 0 0 45 15 33.3 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 9.14E-24 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 244917236 C A - - - - - - 40 0 0 32 9 28.1 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 245187326 G C EFCAB2 CCDS44341.1 r.? - - intronic 32 0 0 40 7 17.5 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.676982592 0.676982592 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 245316045 A G KIF26B CCDS44342.1 r.? - - upstream 31 0 0 53 10 18.9 22 7 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 1.416481069 1.416481069 1 NA NA 1 NA NA 1 5 NA 1 1 1.57E-13 1 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 245410922 G T KIF26B CCDS44342.1 r.? - - intronic 22 0 0 36 6 16.7 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 245606992 C A KIF26B CCDS44342.1 r.? - - intronic 17 0 0 24 10 41.7 16 5 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.613152805 1.613152805 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 1.8E-17 1 0.000000013 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 246326538 G C SMYD3 CCDS31083.1 r.? - - intronic 26 0 0 46 9 19.6 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 1.167037862 1.167037862 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 247138975 G C ZNF695 ENST00000366504 r.? - - intronic 40 0 0 35 11 31.4 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 247288254 C A - - - - - - 35 0 0 51 13 25.5 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 4.87E-19 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 247691567 A G OR2C3 CCDS1634.2 r.? - - downstream 39 0 0 29 12 41.4 18 4 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.601547389 1.601547389 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 0.00000181 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 247744469 T A C1orf150 CCDS1635.1 r.? - - downstream 27 0 0 36 8 22.2 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 248008632 T C OR11L1 CCDS31098.1 r.? - - upstream 26 0 0 39 9 23.1 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 248100128 G A OR2L13 CCDS1637.1 r.? - - upstream 30 0 0 31 8 25.8 20 2 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 0.004473894 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 248109647 A T OR2L13 CCDS1637.1 r.? - - intronic 32 0 0 44 10 22.7 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 248129486 C A OR2AK2 CCDS31102.1 r.952c>a c.853C>A p.R285R silent 35 0 0 41 11 26.8 30 4 13.3 245 0 0 114 25 21.9 62 20 32.3 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0.592427617 0.592427617 1 0.847195358 0.847195358 1 1.438752784 1.438752784 1 5 4 1 1 1.34E-16 1.93E-33 0.0000154 7.19E-31 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 1 248171345 G T OR2L13 CCDS1637.1 r.? - - intronic 30 0 0 41 14 34.1 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-22 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 248492900 A C - - - - - - 40 0 0 35 11 31.4 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 815801 C G - - - - - - 26 0 0 63 8 12.7 51 9 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.471871152 4 4 0 0 1 0.528128848 NA 5 NA 0 NA 0.471871152 0.745295938 0.745295938 1 1.219013688 1.219013688 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-09 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 832583 C G - - - - - - 36 0 0 34 7 20.6 16 2 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.471871152 4 4 0 0 1 0.528128848 NA 5 NA 0 NA 0.471871152 1.208905222 1.208905222 1 0.865776767 0.865776767 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 0.002863359 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 869408 C G LARP4B CCDS31131.1 r.? - - intronic 36 0 0 61 43 70.5 71 47 66.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.471871152 4 4 0 0 1 0.528128848 NA 5 NA 0 NA 0.471871152 4.137272727 1.034318182 4 4.585153758 1.025332261 4.471871152 NA NA 1 NA NA 1 5 NA 1 1 1.37E-84 1 3.35E-90 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 2235530 C G - - - - - - 35 0 0 82 19 23.2 74 15 20.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 2.289485493 1.144742747 2 2.176779328 1.088389664 2 NA NA 1 NA NA 1 5 NA 1 1 2.79E-26 1 4.22E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 2312292 G A - - - - - - 34 0 0 79 17 21.5 95 15 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 2.12172147 1.060860735 2 1.694242039 0.97859976 1.731292106 NA NA 1 NA NA 1 5 NA 1 1 4.55E-23 1 2.31E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 2340062 T A - - - - - - 34 0 0 104 63 60.6 77 37 48.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 5.980294004 0.996715667 6 5.157787473 1.031557495 5 NA NA 1 NA NA 1 5 NA 1 1 1.38E-116 1 7.74E-64 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 2443777 T A - - - - - - 29 0 0 97 54 55.7 79 46 58.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 5.496738878 0.916123146 6 6.240815611 1.040135935 6 NA NA 1 NA NA 1 5 NA 1 1 3.1E-97 1 2.26E-84 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 2535118 T A - - - - - - 27 0 0 75 14 18.7 70 7 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 1.845404255 0.922702128 2 1.072305088 1.072305088 1 NA NA 1 NA NA 1 5 NA 1 1 2.57E-18 1 7.11E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 2558881 T A - - - - - - 47 0 0 104 50 48.1 81 51 63 184 0 0 216 143 66.2 263 174 66.2 TRUE TRUE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 4.74673501 0.949347002 5 6.755522053 1.125920342 6 6.532928433 1.088821406 6 7.098659682 1.183109947 6 5 4 1 1 9.99E-86 3.63E-271 5.4E-96 0 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 10 2558984 G A - - - - - - 24 0 0 86 13 15.1 81 18 22.2 123 0 0 130 20 15.4 152 24 15.8 TRUE TRUE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 1.490139265 1.490139265 1 2.380517295 0.871571843 2.731292106 1.519744681 0.75987234 2 1.694242039 0.97859976 1.731292106 5 4 1 1 7.57E-16 9.44E-24 1.29E-24 1.77E-28 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 10 2675372 C A - - - - - - 40 0 0 119 70 58.8 86 46 53.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 5.802661509 0.967110251 6 5.73683222 1.000966643 5.731292106 NA NA 1 NA NA 1 5 NA 1 1 5.09E-128 1 6.3E-82 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 2723096 G C - - - - - - 38 0 0 90 50 55.6 92 51 55.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 5.486870406 0.914478401 6 5.940570187 0.990095031 6 NA NA 1 NA NA 1 5 NA 1 1 4.37E-90 1 8.7E-92 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 2764208 A G - - - - - - 28 0 0 69 20 29 48 15 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 2.861856867 0.953952289 3 3.345591874 0.89663092 3.731292106 NA NA 1 NA NA 0 5 NA 1 1 8.73E-30 1 2.86E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 2890125 T C ENSG00000214531 ENST00000398522 r.? - - intronic 25 0 0 95 59 62.1 81 48 59.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 6.128321083 1.021386847 6 6.358769171 1.059794862 6 NA NA 1 NA NA 0 5 NA 1 1 2.91E-110 1 1.62E-88 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 2918376 T A ENSG00000214531 ENST00000398522 r.? - - intronic 35 0 0 99 9 9.1 70 4 5.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.898030948 0.898030948 1 0.6112139 0.6112139 1 NA NA 1 NA NA 1 5 NA 1 1 2.25E-09 1 0.000440508 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 2943787 A G - - - - - - 41 0 0 96 63 65.6 77 42 54.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 6.473717602 1.078952934 6 5.844062729 1.0196763 5.731292106 NA NA 1 NA NA 1 5 NA 1 1 5.31E-120 1 1.92E-75 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 3055518 G A - - - - - - 32 0 0 107 12 11.2 81 7 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 1.105268859 1.105268859 1 0.922182376 0.922182376 1 NA NA 1 NA NA 1 5 NA 1 1 3.9E-13 1 0.000000197 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 3536999 G T - - - - - - 32 0 0 82 14 17.1 76 10 13.2 2 0 0 2 0 0 2 0 0 TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 1.687508704 0.843754352 2 1.415442716 1.415442716 1 0 0 1 0 NA 0 5 NA 1 1 9.77E-18 1 6.9E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 3607857 C A - - - - - - 37 0 0 99 15 15.2 87 13 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 1.500007737 1.500007737 1 1.597734581 1.597734581 1 NA NA 1 NA NA 0 5 NA 1 1 4.43E-18 1 8.85E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 4058052 C T - - - - - - 24 0 0 83 58 69.9 86 47 54.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 6.898061896 1.149676983 6 5.865508831 0.977584805 6 NA NA 1 NA NA 0 5 NA 1 1 3.32E-113 1 2.69E-84 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 4068062 C T - - - - - - 37 0 0 94 18 19.1 75 18 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 1.884878143 0.942439072 2 2.573532211 0.94223983 2.731292106 NA NA 1 NA NA 0 5 NA 1 1 2.4E-23 1 2.78E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 5302777 C T - - - - - - 33 0 0 96 62 64.6 72 45 62.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 6.375032882 1.06250548 6 6.701906799 1.116984467 6 NA NA 1 NA NA 0 5 NA 1 1 1.96E-117 1 1.17E-84 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 5990149 A T IL15RA CCDS7075.1 r.? - - downstream 38 0 0 105 61 58.1 63 38 60.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 5.733582205 0.955597034 6 6.46599968 1.077666613 6 NA NA 1 NA NA 0 5 NA 1 1 2.8E-111 1 7.87E-71 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 6018996 C A IL15RA CCDS7075.1 r.? - - intronic 45 0 0 81 8 9.9 23 4 17.4 0 0 NA 3 0 0 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.976978723 0.976978723 1 1.865810853 1.865810853 1 0 0 1 NA NA 0 5 NA 1 1 9.08E-09 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 6034435 C T - - - - - - 33 0 0 84 8 9.5 78 12 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.937504836 0.937504836 1 1.651349835 0.953825082 1.731292106 NA NA 1 NA NA 0 5 NA 1 1 1.21E-08 1 7.82E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 6152993 A G RBM17 CCDS7077.1 r.? - - intronic 34 0 0 76 15 19.7 88 13 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 1.944088975 0.972044487 2 1.58701153 1.58701153 1 NA NA 1 NA NA 0 5 NA 1 1 6.51E-20 1 1.03E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 6155731 T C RBM17 CCDS7077.1 r.? - - intronic 28 0 0 91 18 19.8 80 14 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 1.953957447 0.976978723 2 1.876533904 0.938266952 2 NA NA 1 NA NA 1 5 NA 1 1 1.27E-23 1 6.76E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 6222544 C T PFKFB3 CCDS44353.1 r.? - - intronic 30 0 0 100 54 54 95 53 55.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 4.788974855 0.957794971 5 5.98346239 0.997243732 6 NA NA 0 NA NA 1 5 NA 1 1 3.25E-96 1 1.55E-95 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 6240259 G A PFKFB3 CCDS7078.1 r.? - - upstream 29 0 0 106 22 20.8 93 27 29 0 0 NA 0 0 NA 1 1 100 TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 1.844642166 0.922321083 2 3.109684755 1.036561585 3 NA NA 0 10.72305088 10.72305088 1 5 NA 1 1 4.91E-29 1 1.06E-39 0.005 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 6321937 C A ENSG00000215244 ENST00000399868 r.? - - intronic 23 0 0 98 11 11.2 82 5 6.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.993268859 0.993268859 1 0.654106104 0.654106104 1 NA NA 0 NA NA 1 5 NA 1 1 3.67E-12 1 0.0000619 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 6641877 C T - - - - - - 31 0 0 106 8 7.5 94 7 7.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.665135397 0.665135397 1 0.793505765 0.793505765 1 NA NA 0 NA NA 1 5 NA 1 1 7.62E-08 1 0.000000547 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 6762962 A G - - - - - - 32 0 0 77 18 23.4 70 14 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 2.075222437 1.037611219 2 2.144610176 1.072305088 2 NA NA 0 NA NA 1 5 NA 1 1 4.71E-25 1 9.08E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 7026180 G A - - - - - - 33 0 0 94 46 48.9 94 50 53.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 4.336682785 1.084170696 4 5.704663067 0.995353746 5.731292106 NA NA 0 NA NA 1 5 NA 1 1 1.79E-79 1 9.62E-89 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 7026922 G A - - - - - - 25 0 0 82 8 9.8 94 15 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.869110251 0.869110251 1 1.715688141 0.990987098 1.731292106 NA NA 0 NA NA 1 5 NA 1 1 0.00000001 1 1.96E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 7194189 C G - - - - - - 30 0 0 101 26 25.7 102 23 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 2.279197292 1.139598646 2 2.412686448 0.883349841 2.731292106 NA NA 0 NA NA 1 5 NA 1 1 9.78E-37 1 3.39E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 7532645 A C - - - - - - 48 0 0 100 22 22 102 23 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 1.95106383 0.975531915 2 2.412686448 0.883349841 2.731292106 NA NA 0 NA NA 1 5 NA 1 1 1.2E-29 1 3.39E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 7638504 T A ITIH5 CCDS31139.1 r.? - - intronic 36 0 0 89 16 18 90 19 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 1.596324952 0.798162476 2 2.262563735 1.131281868 2 NA NA 0 NA NA 1 5 NA 1 1 1.91E-20 1 1.95E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 7643978 G A ITIH5 CCDS31139.1 r.? - - intronic 37 0 0 74 31 41.9 106 46 43.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 3.715889749 0.928972437 4 4.653804081 0.983622228 4.731292106 NA NA 0 NA NA 1 5 NA 1 1 2.52E-51 1 2.65E-76 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 7708535 G C ITIH5 CCDS31139.1 r.? - - intronic 32 0 0 104 10 9.6 41 4 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.851373308 0.851373308 1 1.050858986 1.050858986 1 NA NA 0 NA NA 1 5 NA 1 1 1.66E-10 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 7796284 C T ITIH2 CCDS31141.1 r.? - - downstream 32 0 0 92 16 17.4 75 7 9.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 1.54311412 0.77155706 2 0.997243732 0.997243732 1 NA NA 0 NA NA 0 5 NA 1 1 3.36E-20 1 0.000000115 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 7820117 G A KIN CCDS7080.1 r.? - - intronic 36 0 0 104 64 61.5 72 28 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 5.454110251 1.09082205 5 4.171266792 1.042816698 4 NA NA 0 NA NA 0 5 NA 1 1 4.43E-119 1 2.27E-45 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 7999485 T C TAF3 CCDS41487.1 r.? - - intronic 37 0 0 101 8 7.9 101 15 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.700609284 0.700609284 1 1.597734581 0.922856735 1.731292106 NA NA 0 NA NA 0 5 NA 1 1 5.22E-08 1 6.06E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 8194652 A G - - - - - - 34 0 0 91 10 11 103 9 8.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.975531915 0.975531915 1 0.932905426 0.932905426 1 NA NA 0 NA NA 0 5 NA 1 1 4.34E-11 1 3.21E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 8477501 A G - - - - - - 37 0 0 82 22 26.8 72 16 22.2 0 0 NA 1 0 0 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 2.376750484 1.188375242 2 2.380517295 0.871571843 2.731292106 0 NA 0 NA NA 0 5 NA 1 1 9.09E-32 1 4.82E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 8495307 C G - - - - - - 32 0 0 122 13 10.7 81 7 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.948926499 0.948926499 1 0.922182376 0.922182376 1 NA NA 0 NA NA 0 5 NA 1 1 8.08E-14 1 0.000000197 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 8534550 C A - - - - - - 29 0 0 84 26 31 93 15 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 2.749226306 0.916408769 3 1.726411191 0.997180768 1.731292106 NA NA 0 NA NA 1 5 NA 1 1 3.94E-39 1 1.65E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 8593271 A T - - - - - - 38 0 0 77 40 51.9 77 41 53.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 4.602736944 0.920547389 5 5.704663067 0.995353746 5.731292106 NA NA 0 NA NA 1 5 NA 1 1 9.81E-71 1 4.45E-73 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 8648199 T C - - - - - - 40 0 0 105 31 29.5 99 20 20.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 2.616199226 0.872066409 3 2.166056277 1.083028139 2 NA NA 0 NA NA 1 5 NA 1 1 1.29E-45 1 2.81E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 8676908 C A - - - - - - 33 0 0 123 11 8.9 88 7 8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.789294004 0.789294004 1 0.85784407 0.85784407 1 NA NA 0 NA NA 0 5 NA 1 1 4.5E-11 1 0.000000348 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 8785856 G A - - - - - - 33 0 0 113 20 17.7 94 21 22.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 1.569719536 0.784859768 2 2.391240346 0.875497842 2.731292106 NA NA 0 NA NA 0 5 NA 1 1 4.85E-25 1 1.6E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 8886551 T C - - - - - - 31 0 0 76 10 13.2 98 11 11.2 0 0 NA 1 0 0 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 1.170638298 1.170638298 1 1.200981698 1.200981698 1 0 NA 0 NA NA 0 5 NA 1 1 6.9E-12 1 3.67E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 8930652 G A - - - - - - 32 0 0 114 9 7.9 76 10 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.700609284 0.700609284 1 1.415442716 1.415442716 1 NA NA 0 NA NA 1 5 NA 1 1 7.89E-09 1 6.9E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 8953245 T G - - - - - - 36 0 0 110 63 57.3 97 53 54.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 5.081634429 1.016326886 5 5.85478578 1.021547266 5.731292106 NA NA 0 NA NA 1 5 NA 1 1 2.66E-114 1 7.57E-95 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 8993524 T C - - - - - - 41 0 0 85 16 18.8 94 20 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 1.667272727 0.833636364 2 2.284009837 1.142004919 2 NA NA 0 NA NA 1 5 NA 1 1 8.67E-21 1 9.05E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 9013669 G T - - - - - - 30 0 0 91 19 20.9 91 15 16.5 4 0 0 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 1.853510638 0.926755319 2 1.769303395 1.021955445 1.731292106 NA NA 0 NA NA 1 5 NA 1 1 2.46E-25 1 1.17E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 9145250 G A - - - - - - 31 0 0 100 9 9 88 10 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.798162476 0.798162476 1 1.2224278 1.2224278 1 NA NA 0 NA NA 1 5 NA 1 1 2.47E-09 1 3.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 9159105 A T - - - - - - 30 0 0 73 6 8.2 71 7 9.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.7272147 0.7272147 1 1.061582037 1.061582037 1 NA NA 0 NA NA 1 5 NA 1 1 0.000002 1 7.85E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 9213853 C A - - - - - - 33 0 0 84 11 13.1 62 3 4.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 1.161769826 1.161769826 1 0.514706442 0.514706442 1 NA NA 0 NA NA 1 5 NA 1 1 6.49E-13 1 0.003793816 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 9391100 G T ENSG00000224998 ENST00000426375 r.? - - intronic 27 0 0 89 49 55.1 90 48 53.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 4.886528046 0.977305609 5 5.715386118 0.997224712 5.731292106 NA NA 0 NA NA 1 5 NA 1 1 4.85E-88 1 2.46E-85 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 9545085 C A - - - - - - 43 0 0 83 19 22.9 92 22 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 2.030880077 1.015440039 2 2.56280916 0.938313831 2.731292106 NA NA 0 NA NA 1 5 NA 1 1 3.6E-26 1 1.57E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 9700209 C T - - - - - - 40 0 0 99 10 10.1 95 10 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.895715667 0.895715667 1 1.125920342 1.125920342 1 NA NA 0 NA NA 1 5 NA 1 1 1.01E-10 1 6.7E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 9891595 G C - - - - - - 42 0 0 106 10 9.4 122 11 9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.833636364 0.833636364 1 0.965074579 0.965074579 1 NA NA 0 NA NA 1 5 NA 1 1 2.01E-10 1 4.12E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 9953033 C A - - - - - - 38 0 0 107 25 23.4 73 9 12.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 2.075222437 1.037611219 2 1.318935258 1.318935258 1 NA NA 0 NA NA 1 5 NA 1 1 3.34E-34 1 1.42E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 10016409 A T - - - - - - 32 0 0 93 6 6.5 69 8 11.6 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.576450677 0.576450677 1 1.243873902 1.243873902 1 NA NA 0 0 NA 0 5 NA 1 1 0.00000821 1 2.49E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 10446215 G C - - - - - - 31 0 0 60 31 51.7 42 16 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 2.605208441 1.200216212 2.170615941 2.195271327 0.95135362 2.307524017 NA NA 0 NA NA 0 5 NA 1 1 4.63E-55 1 2.25E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 10485569 C T - - - - - - 37 0 0 52 13 25 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.259771974 1.259771974 1 1.26761074 1.26761074 1 NA NA 0 NA NA 0 5 NA 1 1 6.47E-19 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 10949127 C T - - - - - - 33 1 3 51 18 35.3 47 19 40.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.778798027 0.889399013 2 2.327794268 1.008784416 2.307524017 NA NA 0 NA NA 0 5 NA 0.15245715 1 9.1E-29 1 1.16E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 11188701 C A CELF2 CCDS44354.1 r.? - - intronic 22 0 0 50 12 24 57 12 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.209381095 1.209381095 1 1.215753937 1.215753937 1 NA NA 1 NA NA 1 5 NA 1 1 2.49E-17 1 1.4E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 11245493 C A CELF2 CCDS44354.1 r.? - - intronic 32 0 0 37 10 27 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.360553731 1.360553731 1 1.400133681 1.400133681 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 11721049 C T - - - - - - 25 0 0 52 27 51.9 42 21 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 2.615286617 1.204859214 2.170615941 2.880933501 1.248495565 2.307524017 NA NA 0 NA NA 1 5 NA 1 1 3.15E-48 1 2.32E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 11904026 C T C10orf47 CCDS7085.1 r.? - - intronic 27 0 0 58 10 17.2 60 16 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0.866723118 0.866723118 1 1.538418489 1.176589087 1.307524017 NA NA 0 NA NA 1 5 NA 1 1 4.1E-13 1 1.86E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 12325461 C A - - - - - - 24 0 0 44 10 22.7 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.143872952 1.143872952 1 0.823946981 0.823946981 1 NA NA 0 NA NA 1 5 NA 1 1 2.08E-14 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 13204713 G C MCM10 CCDS7095.1 r.? - - intronic 28 0 0 42 12 28.6 51 5 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.441179138 1.441179138 1 0.564662966 0.564662966 1 NA NA 0 NA NA 1 5 NA 1 1 2.35E-18 1 0.00000606 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 13414070 A G - - - - - - 27 0 0 53 12 22.6 47 7 14.9 253 0 0 192 38 19.8 248 11 4.4 TRUE TRUE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.138833864 1.138833864 1 0.858518183 0.858518183 1 0.997739403 0.997739403 1 0.253522148 0.824397882 0.307524017 5 6 1 1 5.39E-17 3.77E-48 4.12E-09 7.21E-08 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 10 13414080 A C - - - - - - 26 0 0 55 14 25.5 47 5 10.6 256 0 0 198 40 20.2 251 11 4.4 TRUE TRUE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.284967413 1.284967413 1 0.610757902 0.610757902 1 1.017895755 1.017895755 1 0.253522148 0.824397882 0.307524017 5 6 1 1 2.19E-20 5.5E-51 0.00000402 8.14E-08 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 10 13603379 A C - - - - - - 24 0 0 46 18 39.1 45 17 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.970283367 0.985141683 2 2.177985726 0.943862647 2.307524017 NA NA 0 NA NA 1 5 NA 1 1 9.41E-30 1 7.37E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 13778351 G T FRMD4A CCDS7101.1 r.? - - intronic 33 0 0 53 13 24.5 51 9 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.234576534 1.234576534 1 1.014088592 1.014088592 1 NA NA 0 NA NA 1 5 NA 1 1 8.53E-19 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 13840722 T G FRMD4A CCDS7101.1 r.? - - intronic 36 0 0 39 8 20.5 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.033013018 1.033013018 1 1.03713606 1.03713606 1 NA NA 0 NA NA 1 5 NA 1 1 2.09E-11 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 13953655 G T FRMD4A CCDS7101.1 r.? - - intronic 31 0 0 45 8 17.8 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0.896957645 0.896957645 1 0.985279257 0.985279257 1 NA NA 0 NA NA 1 5 NA 1 1 7.14E-11 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 13956676 T C FRMD4A CCDS7101.1 r.? - - intronic 32 0 0 53 12 22.6 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.138833864 1.138833864 1 1.1523734 1.1523734 1 NA NA 0 NA NA 0 5 NA 1 1 5.39E-17 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 14194460 C G FRMD4A CCDS7101.1 r.? - - intronic 28 0 0 49 7 14.3 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0.720589569 0.720589569 1 1.296420075 1.296420075 1 NA NA 0 NA NA 1 5 NA 1 1 5.58E-09 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 14307465 C T FRMD4A CCDS7101.1 r.? - - intronic 35 0 0 57 26 45.6 58 25 43.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 2.29782408 1.058604628 2.170615941 2.483364677 1.076203177 2.307524017 NA NA 0 NA NA 1 5 NA 1 1 1.57E-44 1 4.44E-42 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 14811032 T C FAM107B CCDS7102.1 r.? - - intronic 31 0 0 54 20 37 58 33 56.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.864462521 0.93223126 2 3.278502324 1.420787953 2.307524017 NA NA 0 NA NA 1 5 NA 1 1 2.61E-32 1 1.8E-60 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 14929516 T G SUV39H2 CCDS7104.1 r.? - - intronic 34 0 0 53 11 20.8 41 4 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.048130282 1.048130282 1 0.564662966 0.564662966 1 NA NA 0 NA NA 1 5 NA 1 1 3.07E-15 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 15159112 C G NMT2 CCDS7109.1 r.? - - intronic 30 0 0 54 10 18.5 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0.93223126 0.93223126 1 1.002564858 1.002564858 1 NA NA 0 NA NA 1 5 NA 1 1 1.91E-13 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 15301116 C G FAM171A1 CCDS31154.1 r.? - - intronic 29 0 0 50 11 22 50 10 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.108599337 1.108599337 1 1.1523734 1.1523734 1 NA NA 0 NA NA 1 5 NA 1 1 1.52E-15 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 15484242 G A - - - - - - 39 0 0 49 7 14.3 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0.720589569 0.720589569 1 1.117802198 1.117802198 1 NA NA 0 NA NA 1 5 NA 1 1 5.58E-09 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 15696565 G A ITGA8 CCDS31155.1 r.? - - intronic 35 0 0 55 13 23.6 63 20 31.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.189224743 1.189224743 1 1.826511839 0.91325592 2 NA NA 0 NA NA 1 5 NA 1 1 1.46E-18 1 1.05E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 15702181 C A ITGA8 CCDS31155.1 r.? - - intronic 26 0 0 52 17 32.7 47 18 38.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.647781741 0.823890871 2 2.206795061 0.956347603 2.307524017 NA NA 0 NA NA 1 5 NA 1 1 1.42E-26 1 1.52E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 15897014 G A FAM188A CCDS7110.1 r.? - - intronic 37 0 0 56 21 37.5 61 27 44.3 140 0 0 125 56 44.8 1203 353 29.3 TRUE TRUE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.88965796 0.94482898 2 2.552507081 1.10616707 2.307524017 2.257511377 1.040032617 2.170615941 1.688227031 0.844113516 2 5 6 1 1 5.43E-34 1.53E-93 9.98E-46 0 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 10 15897028 A T FAM188A CCDS7110.1 r.? - - intronic 36 0 0 55 20 36.4 57 24 42.1 134 0 0 117 54 46.2 1144 331 28.9 TRUE TRUE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.834227993 0.917113997 2 2.425746007 1.051233266 2.307524017 2.328058607 1.072533636 2.170615941 1.665179563 0.832589782 2 5 6 1 1 4.08E-32 3.53E-91 3.83E-40 0 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 10 15994274 G A - - - - - - 28 0 0 59 13 22 59 14 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.108599337 1.108599337 1 1.365562479 1.365562479 1 NA NA 0 NA NA 1 5 NA 1 1 3.99E-18 1 6.58E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 15995814 G C - - - - - - 34 0 0 48 12 25 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.259771974 1.259771974 1 0.74904271 0.74904271 1 NA NA 0 NA NA 1 5 NA 1 1 1.44E-17 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 16074465 A T - - - - - - 37 0 0 57 5 8.8 44 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0.443439735 0.443439735 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000105 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 16163453 C A - - - - - - 27 0 0 61 30 49.2 51 21 41.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 2.479231244 1.142178677 2.170615941 2.373889204 1.028760345 2.307524017 NA NA 0 NA NA 1 5 NA 1 1 1.86E-52 1 4.73E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 16197439 T A - - - - - - 45 0 0 51 18 35.3 47 15 31.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.778798027 0.889399013 2 1.838035573 0.919017787 2 NA NA 1 NA NA 1 5 NA 1 1 9.1E-29 1 1.97E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 16242296 A G - - - - - - 32 0 0 46 9 19.6 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0.987661227 0.987661227 1 1.181182735 1.181182735 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 16390751 G C - - - - - - 29 0 0 57 29 50.9 41 19 46.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 2.564895738 1.181644201 2.170615941 2.667744422 1.156106893 2.307524017 NA NA 0 NA NA 0 5 NA 1 1 2.45E-51 1 4.2E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 16506324 T G PTER CCDS7111.1 r.? - - intronic 34 0 0 54 5 9.3 36 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0.468635174 0.468635174 1 0 0 1 NA NA 0 NA NA 0 3 NA 1 1 0.00000806 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 16848498 C T RSU1 CCDS7112.1 r.? - - intronic 28 0 0 42 7 16.7 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0.841527678 0.841527678 1 1.008326725 1.008326725 1 NA NA 0 NA NA 1 5 NA 1 1 1.81E-09 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 16850415 G A RSU1 CCDS7112.1 r.? - - intronic 30 0 0 45 17 37.8 28 12 42.9 1 0 0 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.904775224 0.952387612 2 2.471840943 1.071209195 2.307524017 NA NA 0 NA NA 1 5 NA 1 1 7.37E-28 1 6.9E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 17027040 G T CUBN CCDS7113.1 r.? - - intronic 30 0 0 47 9 19.1 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0.962465788 0.962465788 1 0.887327518 0.887327518 1 NA NA 0 NA NA 1 5 NA 1 1 2.24E-12 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 17130533 G C CUBN CCDS7113.1 r.? - - intronic 33 0 0 55 30 54.5 56 27 48.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 2.746302902 1.26521825 2.170615941 2.777219895 1.203549724 2.307524017 NA NA 0 NA NA 1 5 NA 1 1 2.55E-54 1 4.78E-47 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 17279237 C T VIM CCDS7120.1 r.1513c>u c.1368C>T p.N456N silent 36 0 0 39 9 23.1 44 10 22.7 92 0 0 101 10 9.9 128 108 84.4 TRUE TRUE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.164029304 1.164029304 1 1.307943809 1.307943809 1 0.498869702 0.498869702 1 4.863015749 2.107460513 2.307524017 5 4 1 1 3.62E-13 1.24E-10 2.08E-14 3.34E-226 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 10 17612665 T G - - - - - - 47 0 0 63 15 23.8 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.199302919 1.199302919 1 0.720233375 0.720233375 1 NA NA 0 NA NA 1 5 NA 1 1 2.97E-21 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 17665895 G A - - - - - - 34 0 0 54 20 37 49 21 42.9 1 0 0 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.864462521 0.93223126 2 2.471840943 1.071209195 2.307524017 NA NA 0 NA NA 1 5 NA 1 1 2.61E-32 1 1.63E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 17776980 A C - - - - - - 46 0 0 57 18 31.6 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.592351775 0.796175887 2 1.976320381 0.988160191 2 NA NA 0 NA NA 0 5 NA 1 1 9.84E-28 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 18438595 C G CACNB2 CCDS7127.1 r.? - - intronic 30 0 0 59 13 22 45 5 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.108599337 1.108599337 1 0.639567237 0.639567237 1 NA NA 0 NA NA 1 5 NA 1 1 3.99E-18 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 18567802 A T CACNB2 CCDS7128.1 r.? - - intronic 33 0 0 45 6 13.3 55 6 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0.67019869 0.67019869 1 0.628043503 0.628043503 1 NA NA 0 NA NA 0 5 NA 1 1 0.000000108 1 0.000000367 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 18671133 T C CACNB2 CCDS7128.1 r.? - - intronic 41 0 0 48 11 22.9 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.153951128 1.153951128 1 1.181182735 1.181182735 1 NA NA 0 NA NA 0 5 NA 1 1 9.31E-16 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 18845641 A G NSUN6 CCDS7130.1 r.? - - intronic 46 0 0 55 24 43.6 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 2.197042322 1.0121746 2.170615941 1.7285601 0.86428005 2 NA NA 0 NA NA 1 5 NA 1 1 1.28E-40 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 18979248 T A - - - - - - 27 0 0 47 13 27.7 45 4 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.395827347 1.395827347 1 0.512806163 0.512806163 1 NA NA 0 NA NA 1 5 NA 1 1 1.47E-19 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 19012305 C T - - - - - - 32 0 0 40 14 35 42 17 40.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 1.763680763 0.881840381 2 2.333556135 1.011281408 2.307524017 NA NA 0 NA NA 0 5 NA 1 1 1.25E-22 1 1.73E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 19131631 G C - - - - - - 21 0 0 56 11 19.6 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0.987661227 0.987661227 1 1.227277671 1.227277671 1 NA NA 0 NA NA 1 5 NA 1 1 5.91E-15 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 19662778 T A C10orf112 ENST00000377266 r.? - - intronic 43 0 0 45 13 28.9 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.198417266 2.737600031 1 1 1 1 0.801582734 0.262399969 2 2 1 1 0.198417266 0.737600031 1.175330985 1.175330985 1 1.095499976 1.095499976 1 NA NA 0 NA NA 1 5 NA 1 1 7.68E-20 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 19785805 C A C10orf112 ENST00000377266 r.? - - intronic 31 0 0 42 10 23.8 42 8 19 0 0 NA 0 0 NA 2 2 100 TRUE FALSE 2.198417266 2.737600031 1 1 1 1 0.801582734 0.262399969 2 2 1 1 0.198417266 0.737600031 0.967919634 0.967919634 1 0.986469173 0.986469173 1 NA NA 0 5.191943016 2.987996617 1.737600031 5 NA 1 1 1.24E-14 1 3.96E-11 0.000025 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 19936852 A G C10orf112 ENST00000377266 r.? - - intronic 37 0 0 45 11 24.4 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.198417266 2.737600031 1 1 1 1 0.801582734 0.262399969 2 2 1 1 0.198417266 0.737600031 0.99232097 0.99232097 1 0.867054484 0.867054484 1 NA NA 0 NA NA 1 5 NA 1 1 4.24E-16 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 20027570 G C C10orf112 ENST00000377266 r.? - - downstream 34 0 0 33 9 27.3 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.198417266 2.737600031 1 1 1 1 0.801582734 0.262399969 2 2 1 1 0.198417266 0.737600031 1.110260757 1.110260757 1 0.9293578 0.9293578 1 NA NA 0 NA NA 1 5 NA 1 1 6.76E-14 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 20606447 T A - - - - - - 30 0 0 56 14 25 34 4 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.198417266 2.737600031 1 1 1 1 0.801582734 0.262399969 2 2 1 1 0.198417266 0.737600031 1.016722305 1.016722305 1 0.612649276 0.612649276 1 NA NA 0 NA NA 1 5 NA 1 1 2.91E-20 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 20752586 G A - - - - - - 26 0 0 43 15 34.9 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.198417266 2.737600031 1 1 1 1 0.801582734 0.262399969 2 2 1 1 0.198417266 0.737600031 1.419344338 1.419344338 1 1.946978631 1.120498732 1.737600031 NA NA 0 NA NA 1 5 NA 1 1 4.05E-24 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 21444506 A C NEBL CCDS7133.1 r.? - - intronic 36 0 0 40 13 32.5 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.198417266 2.737600031 1 1 1 1 0.801582734 0.262399969 2 2 1 1 0.198417266 0.737600031 1.321738996 1.321738996 1 1.329137412 1.329137412 1 NA NA 0 NA NA 0 5 NA 1 1 1.3E-20 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 21873602 C G MLLT10 CCDS7135.1 r.? - - intronic 31 0 0 32 14 43.8 16 5 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.132390716 1.066195358 2 1.619886221 1.619886221 1 NA NA 1 NA NA 0 5 NA 1 1 2.65E-24 1 0.000000013 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 22478473 G T ENSG00000224369 ENST00000412505 r.? - - intronic 29 0 0 57 13 22.8 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.110011605 1.110011605 1 0.846286712 0.846286712 1 NA NA 1 NA NA 0 5 NA 1 1 2.44E-18 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 22491646 C T ENSG00000224369 ENST00000412505 r.? - - intronic 26 0 0 51 25 49 37 19 51.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.385551257 1.192775629 2 2.66865871 1.535830261 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 6.52E-44 1 3.09E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 22571307 C T ENSG00000224369 ENST00000412505 r.? - - intronic 23 0 0 47 12 25.5 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.241460348 1.241460348 1 0.628225105 0.628225105 1 NA NA 1 NA NA 0 5 NA 1 1 1.09E-17 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 22882679 C T PIP4K2A CCDS7141.1 r.? - - intronic 33 0 0 49 20 40.8 56 16 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.986336557 0.993168279 2 1.484895702 1.484895702 1 NA NA 1 NA NA 0 5 NA 1 1 2.35E-33 1 5.26E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 23160357 C A - - - - - - 38 0 0 49 9 18.4 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.895798839 0.895798839 1 0.867054484 0.867054484 1 NA NA 1 NA NA 0 5 NA 1 1 3.35E-12 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 23279021 T A ARMC3 CCDS7142.1 r.? - - intronic 37 0 0 45 6 13.3 52 11 21.2 1 0 0 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.64750677 0.64750677 1 1.100691919 1.100691919 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000108 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 23287925 G A ARMC3 CCDS7142.1 r.? - - intronic 38 0 0 38 14 36.8 54 17 31.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.791597679 0.895798839 2 1.63546205 0.941218934 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 5.28E-23 1 3.02E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 23298380 T C ARMC3 CCDS7142.1 r.? - - intronic 36 0 0 45 9 20 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.973694391 0.973694391 1 0.789175338 0.789175338 1 NA NA 1 NA NA 0 5 NA 1 1 1.47E-12 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 23302903 G C ARMC3 CCDS7142.1 r.? - - intronic 43 0 0 45 7 15.6 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.759481625 0.759481625 1 0.924165857 0.924165857 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000003 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 23322738 G A ARMC3 CCDS7142.1 r.? - - intronic 35 0 0 40 11 27.5 36 3 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.338829787 1.338829787 1 0.43093127 0.43093127 1 NA NA 1 NA NA 0 5 NA 1 1 9.88E-17 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 23415418 T G MSRB2 CCDS41495.1 r.? - - downstream 53 0 0 59 10 16.9 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.82277176 0.82277176 1 1.542007076 1.542007076 1 NA NA 1 NA NA 0 5 NA 1 1 4.91E-13 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 23555254 T C C10orf67 ENST00000376500 r.? - - downstream 33 0 0 51 14 27.5 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.338829787 1.338829787 1 1.297985754 1.297985754 1 NA NA 1 NA NA 0 5 NA 1 1 6.64E-21 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 23600228 G C C10orf67 ENST00000376500 r.? - - intronic 45 0 0 31 8 25.8 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.256065764 1.256065764 1 0.726872022 0.726872022 1 NA NA 1 NA NA 0 5 NA 1 1 2.78E-12 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 23736516 C T - - - - - - 30 0 0 37 7 18.9 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.920141199 0.920141199 1 0.830710882 0.830710882 1 NA NA 1 NA NA 0 5 NA 1 1 7.05E-10 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 23898860 C A - - - - - - 42 0 0 55 21 38.2 42 14 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.859756286 0.929878143 2 1.728917024 0.995002874 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 3.41E-34 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 23954407 C A - - - - - - 37 0 0 56 29 51.8 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.521868472 1.260934236 2 1.297985754 1.297985754 1 NA NA 1 NA NA 0 5 NA 1 1 1.21E-51 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 23956457 T C - - - - - - 39 0 0 47 15 31.9 54 12 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.553042553 0.776521277 2 1.152611349 1.152611349 1 NA NA 1 NA NA 0 5 NA 1 1 1.97E-23 1 6.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 24249155 A T KIAA1217 CCDS41496.1 r.? - - intronic 31 0 0 47 10 21.3 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.036984526 1.036984526 1 1.095499976 1.095499976 1 NA NA 1 NA NA 0 5 NA 1 1 4.27E-14 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 24310371 C G KIAA1217 CCDS41496.1 r.? - - intronic 39 0 0 44 20 45.5 54 16 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.215154739 1.107577369 2 1.536815133 0.884446999 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 1.5E-34 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 24464827 G A KIAA1217 CCDS41496.1 r.? - - intronic 25 0 0 43 6 14 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.681586074 0.681586074 1 0.75802368 0.75802368 1 NA NA 1 NA NA 0 5 NA 1 1 8.13E-08 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 24496944 G T KIAA1217 CCDS31165.1 r.? - - upstream 37 0 0 38 8 21.1 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.027247582 1.027247582 1 1.588734563 1.588734563 1 NA NA 1 NA NA 0 5 NA 1 1 1.67E-11 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 24690450 A G KIAA1217 CCDS31165.1 r.? - - intronic 40 0 0 53 15 28.3 49 19 38.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.377777563 1.377777563 1 2.01447389 1.159342688 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 1.6E-22 1 3.12E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 24749461 T A KIAA1217 CCDS31165.1 r.? - - intronic 49 0 0 44 11 25 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.217117988 1.217117988 1 0.830710882 0.830710882 1 NA NA 1 NA NA 0 5 NA 1 1 3.22E-16 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 25020859 C T - - - - - - 37 0 0 52 9 17.3 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.842245648 0.842245648 1 0.576305675 0.576305675 1 NA NA 1 NA NA 0 5 NA 1 1 5.92E-12 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 25160563 C A PRTFDC1 CCDS7145.1 r.? - - intronic 20 0 0 41 11 26.8 43 18 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.304750484 1.304750484 1 2.175424124 1.251970583 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 1.34E-16 1 2.06E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 25173686 C T PRTFDC1 CCDS7145.1 r.? - - intronic 25 0 0 55 10 18.2 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.886061896 0.886061896 1 0.825518939 0.825518939 1 NA NA 1 NA NA 0 5 NA 1 1 2.33E-13 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 25499835 G T GPR158 CCDS31166.1 r.? - - intronic 36 0 0 55 16 29.1 49 20 40.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.416725338 1.416725338 1 2.11831275 1.21910262 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 3.78E-24 1 2.35E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 25623347 A G GPR158 CCDS31166.1 r.? - - intronic 32 0 0 43 5 11.6 43 1 2.3 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.564742747 0.564742747 1 0.119414689 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000257 1 0.193893409 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 25713013 T A GPR158 CCDS31166.1 r.? - - intronic 36 0 0 52 14 26.9 59 12 20.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.309618956 1.309618956 1 1.053964432 1.053964432 1 NA NA 1 NA NA 0 5 NA 1 1 9.04E-21 1 2.2E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 25780916 G A GPR158 CCDS31166.1 r.? - - intronic 27 0 0 31 9 29 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.411856867 1.411856867 1 1.79122034 1.030858833 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 3.57E-14 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 25893497 G C GPR158 CCDS31166.1 r.? - - downstream 26 0 0 52 11 21.2 48 13 27.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.032116054 1.032116054 1 1.407016557 1.407016557 1 NA NA 1 NA NA 0 5 NA 1 1 2.44E-15 1 2E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 26204480 C G - - - - - - 32 0 0 54 6 11.1 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.540400387 0.540400387 1 0.908590028 0.908590028 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000329 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 26280626 G T MYO3A CCDS7148.1 r.? - - intronic 30 0 0 33 10 30.3 60 16 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.475147002 1.475147002 1 1.386248785 1.386248785 1 NA NA 1 NA NA 0 5 NA 1 1 8.14E-16 1 1.86E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 26286340 G T MYO3A CCDS7148.1 r.? - - intronic 35 0 0 50 14 28 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.363172147 1.363172147 1 1.017620831 1.017620831 1 NA NA 1 NA NA 0 5 NA 1 1 4.84E-21 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 26352194 T G MYO3A CCDS7148.1 r.? - - intronic 35 0 0 52 28 53.8 36 13 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.619237911 1.309618956 2 1.874291429 1.078666779 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 1.41E-50 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 26436831 A G MYO3A CCDS7148.1 r.? - - intronic 29 0 0 50 23 46 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.239497099 1.119748549 2 1.557582905 1.557582905 1 NA NA 1 NA NA 0 5 NA 1 1 1.13E-39 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 26466447 G A MYO3A CCDS7148.1 r.? - - intronic 32 0 0 54 30 55.6 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.706870406 1.353435203 2 1.728917024 0.995002874 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 1.16E-54 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 26934271 A C - - - - - - 42 0 0 51 20 39.2 53 20 37.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.908441006 0.954220503 2 1.957362517 1.126474725 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 6.38E-33 1 1.65E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 26934812 C A - - - - - - 40 0 0 46 5 10.9 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.530663443 0.530663443 1 0.9293578 0.9293578 1 NA NA 1 NA NA 0 5 NA 1 1 0.00000361 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 27561180 G T - - - - - - 44 0 0 60 25 41.7 37 19 51.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.030152805 1.015076402 2 2.66865871 1.535830261 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 1.31E-41 1 3.09E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 27707534 G A PTCHD3 ENST00000438700 r.? - - upstream 41 0 0 51 12 23.5 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.144090909 1.144090909 1 0.648992877 0.648992877 1 NA NA 1 NA NA 0 5 NA 1 1 3.24E-17 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 27760077 T A - - - - - - 28 0 0 44 16 36.4 50 15 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.772123791 0.886061896 2 1.557582905 0.896398985 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 5.57E-26 1 5.83E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 28023001 A C MKX CCDS7156.1 r.? - - intronic 44 0 0 55 19 34.5 42 15 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.679622824 0.839811412 2 1.853523657 1.066714792 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 4.51E-30 1 2.65E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 28063125 A G - - - - - - 36 0 0 46 17 37 45 16 35.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.801334623 0.900667311 2 1.848331714 1.063726796 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 1.16E-27 1 8.61E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 28132609 A C ARMC4 CCDS7157.1 r.? - - intronic 36 0 0 42 12 28.6 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.392382979 1.392382979 1 0.887822256 0.887822256 1 NA NA 1 NA NA 0 5 NA 1 1 2.35E-18 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 28216852 A T ARMC4 CCDS7157.1 r.? - - intronic 47 0 0 66 17 25.8 48 18 37.5 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.256065764 1.256065764 1 1.946978631 1.120498732 1.737600031 NA NA 1 0 NA 0 5 NA 1 1 1.52E-24 1 2.42E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 28221048 G C ARMC4 CCDS7157.1 r.? - - intronic 36 0 0 40 14 35 42 14 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.703965184 0.851982592 2 1.728917024 0.995002874 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 1.25E-22 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 28324779 G T - - - - - - 33 0 0 51 10 19.6 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.954220503 0.954220503 1 1.038388603 1.038388603 1 NA NA 1 NA NA 0 5 NA 1 1 1.04E-13 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 28374724 T G MPP7 CCDS7158.1 r.? - - intronic 27 0 0 44 8 18.2 47 5 10.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.886061896 0.886061896 1 0.55034596 0.55034596 1 NA NA 1 NA NA 0 5 NA 1 1 5.9E-11 1 0.00000402 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 28456009 G T MPP7 CCDS7158.1 r.? - - intronic 27 0 0 51 17 33.3 44 4 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.621201161 0.81060058 2 0.472466814 0.472466814 1 NA NA 1 NA NA 0 5 NA 1 1 9.59E-27 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 28469135 T C MPP7 CCDS7158.1 r.? - - intronic 35 0 0 44 12 27.3 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.329092843 1.329092843 1 1.542007076 1.542007076 1 NA NA 1 NA NA 0 5 NA 1 1 4.44E-18 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 28576243 A G - - - - - - 39 0 0 47 11 23.4 48 13 27.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.139222437 1.139222437 1 1.407016557 1.407016557 1 NA NA 1 NA NA 0 5 NA 1 1 7.21E-16 1 2E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 29078775 T A - - - - - - 31 0 0 49 13 26.5 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.290145068 1.290145068 1 0.991661116 0.991661116 1 NA NA 1 NA NA 0 5 NA 1 1 2.71E-19 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 29183036 A G - - - - - - 25 0 0 46 8 17.4 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.84711412 0.84711412 1 1.365481013 1.365481013 1 NA NA 1 NA NA 0 5 NA 1 1 8.61E-11 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 29320529 C T - - - - - - 32 0 0 54 15 27.8 40 14 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.353435203 1.353435203 1 1.817180055 1.045798816 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 2.2E-22 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 29581946 G A LYZL1 CCDS31174.1 r.? - - intronic 25 0 0 53 8 15.1 56 9 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.735139265 0.735139265 1 0.835902826 0.835902826 1 NA NA 1 NA NA 0 5 NA 1 1 2.83E-10 1 1.2E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 29763312 C G SVIL CCDS7164.1 r.? - - intronic 32 0 0 65 26 40 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.947388781 0.973694391 2 1.630270107 1.630270107 1 NA NA 1 NA NA 0 5 NA 1 1 1.24E-42 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 29777189 G A SVIL CCDS7164.1 r.? - - intronic 31 0 0 52 6 11.5 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.559874275 0.559874275 1 1.007236945 1.007236945 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000261 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 30018250 C G SVIL CCDS7164.1 r.? - - intronic 13 0 0 54 23 42.6 39 18 46.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.073969052 1.036984526 2 2.398677673 1.380454437 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 1.12E-38 1 2.15E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 30405163 C A AL160060.2 ENST00000502624 r.? - - intronic 25 0 0 57 10 17.5 52 13 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.851982592 0.851982592 1 1.297985754 1.297985754 1 NA NA 1 NA NA 0 5 NA 1 1 3.4E-13 1 6.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 30417564 A T AL160060.2 ENST00000502624 r.? - - intronic 26 0 0 54 10 18.5 52 12 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.900667311 0.900667311 1 1.199338837 1.199338837 1 NA NA 1 NA NA 0 5 NA 1 1 1.91E-13 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 30524043 C G AL160060.2 ENST00000502624 r.? - - intronic 44 0 0 56 26 46.4 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.258970986 1.129485493 2 1.297985754 1.297985754 1 NA NA 1 NA NA 0 5 NA 1 1 8.57E-45 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 30641733 G A MTPAP CCDS7165.1 r.? - - upstream 42 0 0 54 11 20.4 48 6 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.993168279 0.993168279 1 0.648992877 0.648992877 1 NA NA 1 NA NA 0 5 NA 1 1 3.84E-15 1 0.00000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 30687069 G A - - - - - - 25 0 0 47 13 27.7 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.348566731 1.348566731 1 1.111075805 1.111075805 1 NA NA 1 NA NA 0 5 NA 1 1 1.47E-19 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 30693075 C T - - - - - - 17 0 0 55 9 16.4 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.7984294 0.7984294 1 0.867054484 0.867054484 1 NA NA 1 NA NA 0 5 NA 1 1 1.01E-11 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 30715866 G A - - - - - - 29 0 0 54 23 42.6 43 19 44.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.073969052 1.036984526 2 2.294838813 1.320694505 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 1.12E-38 1 1.36E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 30748459 C T MAP3K8 CCDS7166.1 r.? - - intronic 20 0 0 52 9 17.3 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.842245648 0.842245648 1 1.126651634 1.126651634 1 NA NA 1 NA NA 0 5 NA 1 1 5.92E-12 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 30791505 C T - - - - - - 27 0 0 55 25 45.5 42 14 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.215154739 1.107577369 2 1.728917024 0.995002874 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 7.96E-43 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 30942635 A T - - - - - - 26 0 0 61 32 52.5 39 16 41 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.555947776 1.277973888 2 2.128696636 1.225078613 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 4.41E-57 1 5.16E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 31549800 C G - - - - - - 30 0 0 46 22 47.8 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.327129594 1.163564797 2 1.484895702 1.484895702 1 NA NA 1 NA NA 0 5 NA 1 1 1.68E-38 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 31677305 G T ZEB1 CCDS44370.1 r.? - - intronic 37 0 0 58 26 44.8 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.181075435 1.090537718 2 1.240874381 1.240874381 1 NA NA 1 NA NA 0 5 NA 1 1 2.83E-44 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 31732013 G C ZEB1 CCDS44370.1 r.? - - intronic 37 0 0 48 11 22.9 52 10 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.114880077 1.114880077 1 0.996853059 0.996853059 1 NA NA 1 NA NA 0 5 NA 1 1 9.31E-16 1 1.28E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 32288492 A G - - - - - - 24 0 0 59 29 49.2 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.395288201 1.197644101 2 1.728917024 0.995002874 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 9.52E-51 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 33190431 C G ITGB1 CCDS31178.1 r.2801g>c c.? p.? 3'UTR variant 28 0 0 50 8 16 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.778955513 0.778955513 1 1.038388603 1.038388603 1 NA NA 1 NA NA 0 5 NA 1 1 1.74E-10 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 33363269 A C - - - - - - 30 0 0 39 16 41 33 12 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.996073501 0.99803675 2 1.889867258 1.087630769 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 5.16E-27 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 33486672 A G NRP1 CCDS7177.1 r.? - - intronic 35 0 0 41 8 19.5 53 13 24.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.949352031 0.949352031 1 1.272026039 1.272026039 1 NA NA 1 NA NA 0 5 NA 1 1 3.22E-11 1 8.53E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 33602373 G A NRP1 CCDS7177.1 r.? - - intronic 49 0 0 63 14 22.2 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.080800774 1.080800774 1 1.007236945 1.007236945 1 NA NA 1 NA NA 0 5 NA 1 1 1.81E-19 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 33628397 T C NRP1 CCDS7177.1 r.? - - upstream 28 0 0 62 20 32.3 54 19 35.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.572516441 0.786258221 2 1.827563941 1.051774809 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 7.19E-31 1 2.97E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 33638952 T C - - - - - - 36 0 0 58 25 43.1 50 22 44 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.098311412 1.049155706 2 2.284454927 1.314718512 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 4.44E-42 1 1.85E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 33738078 C T - - - - - - 35 0 0 39 7 17.9 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.87145648 0.87145648 1 0.944933629 0.944933629 1 NA NA 1 NA NA 0 5 NA 1 1 1.04E-09 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 34386177 T G - - - - - - 39 0 0 50 17 34 45 13 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.655280464 0.827640232 2 1.500471532 1.500471532 1 NA NA 1 NA NA 0 5 NA 1 1 6.43E-27 1 7.68E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 34765416 T C PARD3 CCDS7178.1 r.? - - intronic 41 0 0 59 12 20.3 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.988299807 0.988299807 1 0.825518939 0.825518939 1 NA NA 1 NA NA 0 5 NA 1 1 2.2E-16 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 35117869 G T - - - - - - 27 0 0 55 11 20 44 5 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.973694391 0.973694391 1 0.591881504 0.591881504 1 NA NA 1 NA NA 0 5 NA 1 1 4.77E-15 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 36340781 G T - - - - - - 37 0 0 57 9 15.8 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.769218569 0.769218569 1 1.069540261 1.069540261 1 NA NA 1 NA NA 0 5 NA 1 1 1.42E-11 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 36346556 C G - - - - - - 38 0 0 56 28 50 55 16 29.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.434235977 1.217117988 2 1.510855418 0.869507016 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 2.49E-49 1 3.78E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 36388814 C G - - - - - - 33 0 0 54 8 14.8 53 7 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.720533849 0.720533849 1 0.685336478 0.685336478 1 NA NA 1 NA NA 0 5 NA 1 1 3.31E-10 1 9.85E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 37088549 A G - - - - - - 34 0 0 47 12 25.5 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.241460348 1.241460348 1 1.111075805 1.111075805 1 NA NA 1 NA NA 0 5 NA 1 1 1.09E-17 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 37233532 C A - - - - - - 31 0 0 49 7 14.3 53 3 5.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.696191489 0.696191489 1 0.295940752 0.401221176 0.737600031 NA NA 1 NA NA 0 5 NA 1 1 5.58E-09 1 0.002429596 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 37323449 C A - - - - - - 34 0 0 43 12 27.9 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.358303675 1.358303675 1 0.685336478 0.685336478 1 NA NA 1 NA NA 0 5 NA 1 1 3.24E-18 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 37346741 C T - - - - - - 29 0 0 61 8 13.1 33 1 3 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.637769826 0.637769826 1 0.15575829 NA 0 NA NA 1 NA NA 0 NA NA 1 1 9.09E-10 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 37414223 C T ANKRD30A CCDS7193.1 r.? - - upstream 30 0 0 64 31 48.4 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.356340426 1.178170213 2 1.728917024 1.728917024 1 NA NA 1 NA NA 0 5 NA 1 1 7.05E-54 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 38179821 A G - - - - - - 29 0 0 35 18 51.4 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.502394584 1.251197292 2 1.188954951 1.188954951 1 NA NA 1 NA NA 0 5 NA 1 1 1.6E-32 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 38465314 G T - - - - - - 30 0 0 53 9 17 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.827640232 0.827640232 1 0.924165857 0.924165857 1 NA NA 1 NA NA 0 5 NA 1 1 7.1E-12 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 38530764 T A - - - - - - 33 0 0 56 13 23.2 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.129485493 1.129485493 1 0.965701401 0.965701401 1 NA NA 1 NA NA 0 5 NA 1 1 1.89E-18 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 38708110 T C - - - - - - 19 0 0 37 11 29.7 30 3 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 1.44593617 1.44593617 1 0.519194302 0.519194302 1 NA NA 1 NA NA 0 5 NA 1 1 3.7E-17 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 38768268 A G - - - - - - 23 0 0 37 17 45.9 39 13 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 2.234628627 1.117314313 2 1.728917024 0.995002874 1.737600031 NA NA 1 NA NA 0 5 NA 1 1 1.1E-29 1 8.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 38973380 G T - - - - - - 76 0 0 99 9 9.1 89 9 10.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.443030948 0.443030948 1 0.524386245 0.710935768 0.737600031 NA NA 1 NA NA 0 2 NA 1 1 2.25E-09 1 8.66E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 42619209 T A - - - - - - 33 0 0 33 13 39.4 29 13 44.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.52417795 1.52417795 1 1.995545657 1.995545657 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 7.69E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 42683043 A T - - - - - - 33 0 0 37 11 29.7 47 13 27.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.14893617 1.14893617 1 1.233853007 1.233853007 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 42684514 G T - - - - - - 33 0 0 42 9 21.4 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.300668151 1.300668151 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 43172025 T C - - - - - - 35 0 0 34 5 14.7 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.568665377 0.568665377 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 43375307 A T - - - - - - 26 0 0 37 6 16.2 27 8 29.6 2 0 0 2 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.626692456 0.626692456 1 1.318485523 1.318485523 1 0 0 1 NA NA 1 5 NA 1 1 3.18E-08 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 43530306 A G - - - - - - 27 0 0 41 14 34.1 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-22 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 43545386 C A - - - - - - 36 0 0 50 13 26 53 10 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.005802708 1.005802708 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 3.65E-19 1 1.57E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 43554590 C G - - - - - - 27 0 0 40 15 37.5 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-24 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 44327269 C G - - - - - - 27 0 0 40 9 22.5 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 44463088 A C - - - - - - 31 0 0 33 13 39.4 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.52417795 1.52417795 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 44731912 A G - - - - - - 34 0 0 37 7 18.9 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 44974599 T A - - - - - - 21 0 0 37 7 18.9 20 2 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 0.004473894 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 45098550 T C - - - - - - 37 0 0 46 12 26.1 35 3 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.00967118 1.00967118 1 0.383073497 0.383073497 1 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 45243608 C T - - - - - - 35 0 0 47 9 19.1 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.738878143 0.738878143 1 0.930957684 0.930957684 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-12 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 45651019 T C - - - - - - 45 0 0 38 13 34.2 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 45740354 T C - - - - - - 38 0 0 27 6 22.2 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.23E-09 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 45817619 C T - - - - - - 29 0 0 38 11 28.9 40 3 7.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.334075724 0.334075724 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 47644693 C G - - - - - - 24 0 0 22 11 50 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.202111359 1.202111359 1 NA NA 1 NA NA 1 5 NA 1 1 3.27E-20 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 48481167 T G - - - - - - 33 0 0 26 12 46.2 33 12 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.325234043 1.325234043 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-21 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 49485321 T A FRMPD2 CCDS31195.1 r.? - 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- - - - - 32 0 0 25 12 48 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.376866538 1.376866538 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-21 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 50448654 C T - - - - - - 31 0 0 35 9 25.7 33 12 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.737197292 0.737197292 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 50482552 A G - - - - - - 24 0 0 32 14 43.8 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.256390716 1.256390716 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 50617378 G A - - - - - - 30 0 0 46 20 43.5 32 13 40.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.2477853 1.2477853 1 1.402463252 1.402463252 1 NA NA 1 NA NA 1 5 NA 1 1 4.72E-34 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 50620607 G T - - - - - - 31 0 0 29 7 24.1 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.691301741 0.691301741 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 50761154 T A - - - - - - 42 0 0 29 17 58.6 29 12 41.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.680924565 1.680924565 1 1.430097996 1.430097996 1 NA NA 1 NA NA 1 5 NA 1 1 3.74E-32 1 1.17E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 50852009 C T CHAT CCDS44389.1 r.? - - intronic 34 0 0 37 10 27 21 1 4.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.774487427 0.774487427 1 0.165808463 0.165808463 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 0.099912572 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 51811148 G A AL442003.3 ENST00000505015 r.? - - intronic 31 0 0 32 11 34.4 19 6 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.986754352 0.986754352 1 1.091572383 1.091572383 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 4.01E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 52197553 T C SGMS1 CCDS7240.1 r.? - - intronic 37 0 0 29 8 27.6 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 0.756501114 0.756501114 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 52478687 C A - - - - - - 42 0 0 25 10 40 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 52811780 T G PRKG1 CCDS44399.1 r.? - - intronic 35 0 0 27 9 33.3 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 53213191 T A PRKG1 CCDS7244.1 r.? - - intronic 37 0 0 34 12 35.3 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.0125706 1.0125706 1 0.635599109 0.635599109 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 53532353 T G PRKG1 CCDS7244.1 r.? - - intronic 35 0 0 31 12 38.7 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.110098646 1.110098646 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 54047986 C G PRKG1 CCDS7244.1 r.? - - intronic 25 0 0 29 12 41.4 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 0.905037862 0.905037862 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 54317258 A T - - - - - - 38 0 0 23 7 30.4 27 11 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.872015474 0.872015474 1 1.405917595 1.405917595 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-11 1 5.92E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 54610072 T G - - - - - - 36 0 0 26 6 23.1 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.662617021 0.662617021 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 3.3E-09 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 54677625 A T - - - - - - 36 0 0 45 7 15.6 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000003 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 54711386 C T - - - - - - 31 0 0 51 7 13.7 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.529980658 0.529980658 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 7.46E-09 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 54901476 C A - - - - - - 33 0 0 38 7 18.4 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 54968563 A T - - - - - - 59 0 0 58 16 27.6 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1E-23 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 55081473 T A - - - - - - 46 0 0 33 9 27.3 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.407572383 1.407572383 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 55214601 T G - - - - - - 46 0 0 37 8 21.6 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 55259328 C A - - - - - - 36 0 0 47 12 25.5 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 55710171 T A PCDH15 CCDS44404.1 r.? - - intronic 28 0 0 37 7 18.9 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 1.011135857 1.011135857 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 55734946 A C PCDH15 CCDS44404.1 r.? - - intronic 29 0 0 33 5 15.2 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.588007737 0.588007737 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000066 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 55925597 T C PCDH15 CCDS44404.1 r.? - - intronic 40 0 0 39 9 23.1 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 56096366 C G PCDH15 CCDS44404.1 r.? - - intronic 42 0 0 54 14 25.9 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.001934236 1.001934236 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-20 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 56246888 A T PCDH15 CCDS44404.1 r.? - - intronic 32 0 0 39 12 30.8 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 56375716 A G PCDH15 CCDS44404.1 r.? - - intronic 22 0 0 43 8 18.6 51 20 39.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 1.74610245 1.74610245 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 6.38E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 56650501 A G PCDH15 ENST00000373957 r.? - - intronic 42 0 0 33 11 33.3 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 56918435 G C PCDH15 ENST00000373957 r.? - - intronic 41 0 0 43 10 23.3 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 57025526 C A PCDH15 ENST00000373957 r.? - - intronic 35 0 0 33 8 24.2 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 57038839 G C PCDH15 ENST00000373957 r.? - - intronic 38 0 0 42 10 23.8 46 13 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 1.260579065 1.260579065 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 57198283 C T PCDH15 ENST00000373957 r.? - - intronic 39 0 0 42 9 21.4 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 57266626 A C PCDH15 ENST00000373957 r.? - - intronic 30 0 0 41 10 24.4 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 57558832 C A - - - - - - 37 0 0 38 12 31.6 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 57674681 T C - - - - - - 41 0 0 40 14 35 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.353965184 1.353965184 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-22 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 57716641 T G - - - - - - 36 0 0 39 7 17.9 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 57754592 C T - - - - - - 30 0 0 30 10 33.3 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 57918144 G A - - - - - - 39 0 0 39 11 28.2 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 58027873 A G - - - - - - 32 0 0 42 9 21.4 47 11 23.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.042316258 1.042316258 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 58036838 G T - - - - - - 42 0 0 43 6 14 36 1 2.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.541586074 0.541586074 1 0.124721604 0.124721604 1 NA NA 1 NA NA 1 3 NA 1 1 8.13E-08 1 0.165106833 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 58052528 A T - - - - - - 43 0 0 43 10 23.3 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 58092582 C A - - - - - - 42 0 0 44 9 20.5 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 58672042 C A - - - - - - 38 0 0 41 6 14.6 50 13 26 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.564796905 0.564796905 1 1.158129176 1.158129176 1 NA NA 1 NA NA 1 5 NA 1 1 6.05E-08 1 3.65E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 58762968 A T - - - - - - 32 0 0 39 5 12.8 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.49516441 0.49516441 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000156 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 58797017 C A - - - - - - 33 0 0 41 11 26.8 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 58843168 A G - - - - - - 54 1 1.9 39 12 30.8 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 0.237137336 1 8.43E-19 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 59150622 T A - - - - - - 41 0 0 33 7 21.2 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 59166581 A T - - - - - - 27 0 0 44 12 27.3 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 59187903 C T - - - - - - 41 0 0 33 6 18.2 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 59467167 A T - - - - - - 39 0 0 42 12 28.6 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.064587973 1.064587973 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 59560210 C T - - - - - - 32 0 0 34 6 17.6 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 0.855233853 0.855233853 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-08 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 59911652 A G - - - - - - 29 0 0 35 12 34.3 45 13 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.32688588 1.32688588 1 1.287305122 1.287305122 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 7.68E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 60394952 T C BICC1 CCDS31206.1 r.? - - intronic 34 0 0 34 11 32.4 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 60802568 G A - - - - - - 34 0 0 31 8 25.8 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 60819050 A T - - - - - - 38 0 0 48 9 18.8 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 0.726057906 0.726057906 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 60829952 A C - - - - - - 38 0 0 52 14 26.9 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.040618956 1.040618956 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 9.04E-21 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 60935718 C T PHYHIPL CCDS7254.1 r.? - - upstream 32 0 0 37 8 21.6 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 61230303 C T - - - - - - 26 0 0 27 5 18.5 26 2 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.715667311 0.715667311 1 0.34298441 0.34298441 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000023 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 61492303 C G SLC16A9 CCDS7256.1 r.? - - intronic 35 0 0 52 14 26.9 54 15 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.040618956 1.040618956 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 9.04E-21 1 2.2E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 61538257 C A - - - - - - 27 0 0 35 6 17.1 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 62254882 C A ANK3 ENST00000373827 r.? - - intronic 42 0 0 24 5 20.8 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 62375281 G C ANK3 ENST00000373827 r.? - - intronic 33 0 0 32 8 25 51 15 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 8.22E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 62566536 G A - - - - - - 43 0 0 50 11 22 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 62948036 T C - - - - - - 32 0 0 46 12 26.1 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.74867118 0.74867118 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 63433053 T A C10orf107 CCDS7262.1 r.? - - intronic 36 0 0 45 5 11.1 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.318400387 0.318400387 1 0.525060134 0.525060134 1 NA NA 1 NA NA 1 2 NA 1 1 0.00000323 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 63604476 G A - - - - - - 30 0 0 26 8 30.8 33 12 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 63863720 T A - - - - - - 36 0 0 38 14 36.8 27 14 51.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.055597679 1.055597679 1 1.792804009 1.792804009 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 1.15E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 64069103 T A - - - - - - 28 0 0 34 8 23.5 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.674090909 0.674090909 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 64123176 C T - - - - - - 30 0 0 26 9 34.6 27 16 59.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 2.04842539 2.04842539 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 1.89E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 64795431 C T - - - - - - 28 0 0 32 18 56.2 38 24 63.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.174081238 1.087040619 2 2.815144766 1.407572383 2 NA NA 1 NA NA 1 5 NA 1 1 1.68E-33 1 5.39E-46 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 64930805 T A JMJD1C CCDS41532.1 r.? - - intronic 45 0 0 31 19 61.3 41 21 51.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.371373308 1.185686654 2 2.280623608 1.140311804 2 NA NA 1 NA NA 1 5 NA 1 1 2.54E-36 1 1.17E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 65495429 A G - - - - - - 37 0 0 49 25 51 28 15 53.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.972920696 0.986460348 2 2.38752784 1.19376392 2 NA NA 1 NA NA 1 5 NA 1 1 1.68E-44 1 1.07E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 65620837 C G - - - - - - 27 0 0 36 20 55.6 38 16 42.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.150870406 1.075435203 2 1.875278396 0.937639198 2 NA NA 1 NA NA 1 5 NA 1 1 6.46E-37 1 3.06E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 66094654 C A - - - - - - 36 0 0 32 18 56.2 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.174081238 1.087040619 2 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.68E-33 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 66298331 T A - - - - - - 43 0 0 42 4 9.5 29 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.367504836 0.367504836 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000601 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 66337838 C T - - - - - - 37 0 0 50 7 14 48 1 2.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.541586074 0.541586074 1 0.093541203 0.093541203 1 NA NA 1 NA NA 1 3 NA 1 1 6.46E-09 1 0.213845552 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 66468715 C A - - - - - - 25 0 0 42 10 23.8 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 67490414 G A - - - - - - 47 0 0 35 14 40 26 15 57.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.547388781 0.773694391 2 2.570155902 1.285077951 2 NA NA 1 NA NA 1 5 NA 1 1 1.28E-23 1 2.24E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 67815658 C T CTNNA3 CCDS7269.1 r.? - - intronic 24 0 0 23 12 52.2 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.01934236 1.00967118 2 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 3.14E-22 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 68102659 A G CTNNA3 CCDS7269.1 r.? - - intronic 32 0 0 41 27 65.9 39 20 51.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.549323017 1.274661509 2 2.285077951 1.142538976 2 NA NA 1 NA NA 1 5 NA 1 1 2.45E-52 1 6E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 68203159 G A CTNNA3 CCDS7269.1 r.? - - intronic 32 0 0 49 13 26.5 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 2.71E-19 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 68208401 C A CTNNA3 CCDS7269.1 r.? - - intronic 32 0 0 30 16 53.3 35 14 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.061895551 1.030947776 2 1.781737194 0.890868597 2 NA NA 1 NA NA 1 5 NA 1 1 2.08E-29 1 1.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 68509891 T C CTNNA3 CCDS7269.1 r.? - - intronic 39 0 0 32 18 56.2 32 18 56.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.174081238 1.087040619 2 2.503340757 1.251670379 2 NA NA 1 NA NA 1 5 NA 1 1 1.68E-33 1 1.68E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 68752063 G T LRRTM3 CCDS7270.1 r.? - - intronic 30 0 0 31 13 41.9 39 18 46.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.620889749 0.810444874 2 2.057906459 1.028953229 2 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 2.15E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 68825598 G C LRRTM3 CCDS7270.1 r.? - - intronic 37 0 0 35 24 68.6 32 15 46.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.65377176 1.32688588 2 2.08908686 1.04454343 2 NA NA 1 NA NA 1 5 NA 1 1 2.36E-47 1 1.59E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 69304635 C T CTNNA3 CCDS7269.1 r.? - - intronic 24 0 0 40 17 42.5 37 17 45.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.64410058 0.82205029 2 2.04454343 1.022271715 2 NA NA 1 NA NA 1 5 NA 1 1 6.07E-29 1 1.1E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 70674186 A T DDX50 CCDS7283.1 r.? - - intronic 39 0 0 36 25 69.4 49 22 44.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.684719536 1.342359768 2 2 1 2 NA NA 1 NA NA 1 5 NA 1 1 1.7E-49 1 1.04E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 71175677 G A TACR2 CCDS7293.1 r.? - - intronic 32 0 0 33 15 45.5 37 16 43.2 212 0 0 170 72 42.4 2 2 100 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.760154739 0.880077369 2 1.924276169 0.962138085 2 1.640232108 0.820116054 2 4.454342984 2.227171492 2 5 4 1 1 2.91E-26 1.64E-117 1.78E-27 0.000025 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 71502490 C T - - - - - - 26 0 0 34 17 50 43 18 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.934235977 0.967117988 2 1.86636971 0.933184855 2 NA NA 1 NA NA 1 5 NA 1 1 1.64E-30 1 2.06E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 73039225 G A UNC5B CCDS7309.1 r.? - - intronic 28 0 0 30 13 43.3 20 13 65 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.675048356 0.837524178 2 2.89532294 1.44766147 2 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 9.16E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 73715968 G T - - - - - - 40 0 0 37 10 27 43 14 32.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 1.452115813 1.452115813 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 4.18E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 73925497 C G ASCC1 CCDS31219.1 r.? - - intronic 32 0 0 43 22 51.2 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.98065764 0.99032882 2 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.27E-39 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 74005648 C T - - - - - - 23 0 0 52 11 21.2 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-15 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 74158466 C A CBARA1 ENST00000398761 r.? - - intronic 25 1 4 51 25 49 36 13 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.895551257 0.947775629 2 1.608017817 0.804008909 2 NA NA 1 NA NA 1 5 NA 0.117779757 1 6.52E-44 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 74220324 A G CBARA1 ENST00000398761 r.? - - intronic 41 0 0 33 18 54.5 37 21 56.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.108317215 1.054158607 2 2.530066815 1.265033408 2 NA NA 1 NA NA 1 5 NA 1 1 3.68E-33 1 5.69E-39 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 75910923 A T AP3M1 CCDS7342.1 r.? - - upstream 20 0 0 41 20 48.8 27 13 48.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.887814313 0.943907157 2 2.142538976 1.071269488 2 NA NA 1 NA NA 1 5 NA 1 1 2.32E-35 1 2.29E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 78019042 G C C10orf11 CCDS7351.1 r.? - - intronic 25 0 0 62 45 72.6 57 40 70.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 4.986510638 0.997302128 5 5.232948775 1.046589755 5 NA NA 1 NA NA 1 5 NA 1 1 1.93E-89 1 1.17E-78 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 78069837 C T C10orf11 CCDS7351.1 r.? - - intronic 56 0 0 59 11 18.6 56 8 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 1.277535783 1.277535783 1 1.065971047 1.065971047 1 NA NA 1 NA NA 1 5 NA 1 1 1.1E-14 1 4.48E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 78142869 C T C10orf11 CCDS7351.1 r.? - - intronic 31 0 0 64 13 20.3 69 15 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 1.394299807 1.394299807 1 1.617592428 0.808796214 2 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 1.34E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 78399859 C A - - - - - - 32 0 0 65 52 80 56 39 69.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 5.494777563 1.098955513 5 5.188222717 1.037644543 5 NA NA 1 NA NA 1 5 NA 1 1 3.42E-107 1 1.64E-76 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 78945052 G C KCNMA1 CCDS7352.1 r.? - - intronic 38 0 0 60 5 8.3 56 5 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.570083172 0.570083172 1 0.663436526 0.663436526 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000136 1 0.00000965 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 79113904 C G KCNMA1 CCDS7352.1 r.? - - intronic 32 0 0 38 22 57.9 27 19 70.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 3.976845261 0.994211315 4 5.247857461 1.049571492 5 NA NA 1 NA NA 1 5 NA 1 1 4.91E-41 1 4.08E-38 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 80526618 C A - - - - - - 36 0 0 70 10 14.3 56 5 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.982191489 0.982191489 1 0.663436526 0.663436526 1 NA NA 1 NA NA 1 5 NA 1 1 2.95E-12 1 0.00000965 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 80578607 G A - - - - - - 27 0 0 72 38 52.8 75 45 60 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 3.626553191 0.906638298 4 4.472605791 0.894521158 5 NA NA 1 NA NA 1 5 NA 1 1 1.22E-67 1 1.92E-83 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 80872192 G A ZMIZ1 CCDS7357.1 r.? - - intronic 33 0 0 79 13 16.5 55 15 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 1.133297872 1.133297872 1 2.035035635 1.017517817 2 NA NA 1 NA NA 1 5 NA 1 1 2.37E-16 1 3.01E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 81096859 A G - - - - - - 33 0 0 73 20 27.4 66 18 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 1.881961315 0.940980658 2 2.035035635 1.017517817 2 NA NA 1 NA NA 1 5 NA 1 1 3.18E-29 1 2.08E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 81286127 C G ENSG00000228282 ENST00000450279 r.? - - intronic 25 0 0 62 8 12.9 61 8 13.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.886032882 0.886032882 1 0.976518931 0.976518931 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 9.09E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 81455207 A G - - - - - - 30 0 0 59 8 13.6 55 7 12.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.934112186 0.934112186 1 0.946701559 0.946701559 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-10 1 1.28E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 81637479 G T - - - - - - 17 0 0 33 18 54.5 32 26 81.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 3.743317215 0.935829304 4 6.052926503 1.210585301 5 NA NA 1 NA NA 1 5 NA 1 1 3.68E-33 1 1.31E-54 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 81773452 C A - - - - - - 32 0 0 80 9 11.2 68 9 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.769268859 0.769268859 1 0.983973274 0.983973274 1 NA NA 1 NA NA 1 5 NA 1 1 3.29E-10 1 7.38E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 82070721 G T - - - - - - 36 0 0 70 46 65.7 78 43 55.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 4.512586074 0.902517215 5 4.107342984 1.026835746 4 NA NA 1 NA NA 1 5 NA 1 1 4.43E-88 1 1.74E-77 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 82149168 G A - - - - - - 30 0 0 83 12 14.5 49 5 10.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.995928433 0.995928433 1 0.760342984 0.760342984 1 NA NA 1 NA NA 1 5 NA 1 1 1.7E-14 1 0.00000496 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 82206924 C G - - - - - - 27 0 0 92 6 6.5 57 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.446450677 0.446450677 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000771 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 82536663 A G - - - - - - 34 0 0 72 10 13.9 72 7 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.954717602 0.954717602 1 0.723071269 0.723071269 1 NA NA 1 NA NA 1 5 NA 1 1 3.95E-12 1 8.66E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 82582800 A C - - - - - - 38 0 0 82 48 58.5 58 34 58.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 4.018056093 1.004514023 4 4.368244989 1.092061247 4 NA NA 1 NA NA 1 5 NA 1 1 3.9E-88 1 6.65E-63 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 82587335 G A - - - - - - 34 0 0 64 38 59.4 77 47 61 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 4.07987234 1.019968085 4 4.54714922 0.909429844 5 NA NA 1 NA NA 1 5 NA 1 1 1.93E-70 1 1.3E-87 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 82591113 G A - - - - - - 25 0 0 74 46 62.2 53 34 64.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 4.272189555 1.068047389 4 4.785688196 0.957137639 5 NA NA 1 NA NA 1 5 NA 1 1 2.44E-86 1 6.32E-65 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 82775363 A C - - - - - - 31 0 0 79 10 12.7 53 8 15.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.872295938 0.872295938 1 1.125605791 1.125605791 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-11 1 2.83E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 82976726 G C - - - - - - 23 0 0 77 8 10.4 79 21 26.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.714321083 0.714321083 1 1.982855234 0.991427617 2 NA NA 1 NA NA 1 5 NA 1 1 6.05E-09 1 2.69E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 83004366 T C - - - - - - 36 0 0 74 8 10.8 68 14 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.741794971 0.741794971 1 1.535594655 1.535594655 1 NA NA 1 NA NA 1 5 NA 1 1 4.39E-09 1 5.84E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 83292805 A G - - - - - - 28 0 0 55 13 23.6 50 16 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 1.620959381 0.810479691 2 2.385389755 1.192694878 2 NA NA 1 NA NA 1 5 NA 1 1 1.46E-18 1 6.4E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 83524482 C A - - - - - - 35 0 0 56 17 30.4 63 20 31.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 2.088015474 1.044007737 2 2.363026726 1.181513363 2 NA NA 1 NA NA 1 5 NA 1 1 6.22E-26 1 1.05E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 83891634 G T NRG3 CCDS31233.1 r.? - - intronic 50 0 0 66 8 12.1 74 6 8.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.831085106 0.831085106 1 0.603801782 0.603801782 1 NA NA 1 NA NA 1 5 NA 1 1 1.73E-09 1 0.00000216 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 84050378 T A NRG3 CCDS31233.1 r.? - - intronic 26 0 0 73 12 16.4 63 10 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 1.1264294 1.1264294 1 1.185240535 1.185240535 1 NA NA 1 NA NA 1 5 NA 1 1 3.39E-15 1 9.81E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 84054074 A G NRG3 CCDS31233.1 r.? - - intronic 35 0 0 86 11 12.8 78 8 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.87916441 0.87916441 1 0.767797327 0.767797327 1 NA NA 1 NA NA 1 5 NA 1 1 8.47E-13 1 6.71E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 84251365 C A NRG3 CCDS31233.1 r.? - - intronic 43 0 0 76 7 9.2 72 10 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.63189942 0.63189942 1 1.036153675 1.036153675 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000126 1 3.95E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 84273449 T C NRG3 CCDS31233.1 r.? - - intronic 30 0 0 82 15 18.3 73 8 11 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 1.256930368 1.256930368 1 0.819977728 0.819977728 1 NA NA 1 NA NA 1 5 NA 1 1 2.22E-19 1 3.93E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 84273450 C A NRG3 CCDS31233.1 r.? - - intronic 28 0 0 81 14 17.3 73 8 11 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 1.188245648 1.188245648 1 0.819977728 0.819977728 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-18 1 3.93E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 84404916 T C NRG3 CCDS31233.1 r.? - - intronic 31 0 0 76 9 11.8 84 10 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.810479691 0.810479691 1 0.887066815 0.887066815 1 NA NA 1 NA NA 1 5 NA 1 1 2.06E-10 1 1.93E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 84601871 G T NRG3 CCDS31233.1 r.? - - intronic 26 0 0 75 53 70.7 72 50 69.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 4.856009671 0.971201934 5 5.173314031 1.034662806 5 NA NA 1 NA NA 1 5 NA 1 1 5.14E-104 1 1.43E-97 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 84653244 G T NRG3 CCDS31233.1 r.? - - intronic 33 0 0 89 18 20.2 57 13 22.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 1.387431335 1.387431335 1 1.6995902 0.8497951 2 NA NA 1 NA NA 1 5 NA 1 1 8.26E-24 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 84950919 C T - - - - - - 34 0 0 71 10 14.1 66 6 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.968454545 0.968454545 1 0.678345212 0.678345212 1 NA NA 1 NA NA 1 5 NA 1 1 3.42E-12 1 0.0000011 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 85090435 C T - - - - - - 24 0 0 81 17 21 61 8 13.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 1.44237911 1.44237911 1 0.976518931 0.976518931 1 NA NA 1 NA NA 1 5 NA 1 1 7.24E-23 1 9.09E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 85375350 G C - - - - - - 42 0 0 88 13 14.8 61 13 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 1.016533849 1.016533849 1 1.587775056 1.587775056 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-15 1 6.41E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 85631441 A C - - - - - - 40 0 0 75 16 21.3 70 10 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 1.462984526 1.462984526 1 1.065971047 1.065971047 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-22 1 2.95E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 85732972 G A - - - - - - 31 0 0 77 50 64.9 61 42 68.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 4.457638298 0.89152766 5 5.136042316 1.027208463 5 NA NA 1 NA NA 1 5 NA 1 1 3.41E-95 1 6.15E-82 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 85735476 A C - - - - - - 36 0 0 64 6 9.4 65 11 16.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.645636364 0.645636364 1 1.259783964 1.259783964 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000914 1 3.41E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 85774508 G T - - - - - - 21 0 0 61 6 9.8 63 7 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.673110251 0.673110251 1 0.827432071 0.827432071 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000685 1 3.38E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 86057243 C T - - - - - - 27 0 0 58 40 69 59 31 52.5 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 4.739245648 0.94784913 5 3.913530067 0.978382517 4 NA NA 1 0 0 1 5 NA 1 1 3.75E-78 1 2.25E-55 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 86302567 G C - - - - - - 37 0 0 87 8 9.2 50 4 8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.63189942 0.63189942 1 0.596347439 0.596347439 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-08 1 0.000119787 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 86314758 T G - - - - - - 41 0 0 74 10 13.5 82 12 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.927243714 0.927243714 1 1.088334076 1.088334076 1 NA NA 1 NA NA 1 5 NA 1 1 5.24E-12 1 1.46E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 86404696 T C - - - - - - 37 0 0 70 46 65.7 92 59 64.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 4.512586074 0.902517215 5 4.778233853 0.955646771 5 NA NA 1 NA NA 1 5 NA 1 1 4.43E-88 1 1.52E-111 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 86431543 A T - - - - - - 26 0 0 56 32 57.1 57 34 59.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 3.921897485 0.980474371 4 4.442788419 1.110697105 4 NA NA 1 NA NA 1 5 NA 1 1 9.02E-59 1 2.76E-63 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 86794116 C A - - - - - - 32 0 0 68 41 60.3 61 48 78.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 4.141688588 1.035422147 4 5.866567929 1.173313586 5 NA NA 1 NA NA 1 5 NA 1 1 2.71E-76 1 2.19E-98 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 86997989 C T - - - - - - 31 0 0 69 56 81.2 57 47 82.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 5.577199226 1.115439845 5 6.149832962 1.229966592 5 NA NA 1 NA NA 1 5 NA 1 1 5.03E-116 1 2.92E-98 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 87016211 T G - - - - - - 27 0 0 73 8 11 59 5 8.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.755531915 0.755531915 1 0.633619154 0.633619154 1 NA NA 1 NA NA 1 5 NA 1 1 3.93E-09 1 0.0000125 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 87065196 T C - - - - - - 30 0 0 76 38 50 68 46 67.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 3.434235977 0.858558994 4 5.039135857 1.007827171 5 NA NA 1 NA NA 1 5 NA 1 1 2.08E-66 1 5.12E-89 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 87186033 C A - - - - - - 35 0 0 62 8 12.9 58 7 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.886032882 0.886032882 1 0.901975501 0.901975501 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 1.88E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 87200945 A T - - - - - - 23 0 0 65 20 30.8 72 19 26.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 2.115489362 1.057744681 2 1.967946548 0.983973274 2 NA NA 1 NA NA 1 5 NA 1 1 2.18E-30 1 1.75E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 87247148 T A - - - - - - 39 0 0 86 10 11.6 72 9 12.5 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.796742747 0.796742747 1 0.931792873 0.931792873 1 NA NA 1 0 0 1 5 NA 1 1 2.45E-11 1 1.25E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 87264217 C G - - - - - - 34 0 0 72 9 12.5 71 14 19.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.858558994 0.858558994 1 1.468505568 1.468505568 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-10 1 1.13E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 87534814 C T GRID1 CCDS31236.1 r.? - - intronic 32 0 0 64 27 42.2 49 16 32.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 2.898495164 0.966165055 3 2.437570156 0.812523385 3 NA NA 1 NA NA 1 5 NA 1 1 5.28E-45 1 4.37E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 87613736 T A GRID1 CCDS31236.1 r.? - - intronic 40 0 0 59 8 13.6 75 8 10.7 0 0 NA 1 0 0 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.934112186 0.934112186 1 0.797614699 0.797614699 1 0 0 1 NA NA 1 5 NA 1 1 6.9E-10 1 4.89E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 87765882 A T GRID1 CCDS31236.1 r.? - - intronic 34 0 0 68 50 73.5 84 57 67.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 5.048326886 1.009665377 5 5.061498886 1.012299777 5 NA NA 1 NA NA 1 5 NA 1 1 1.04E-99 1 4.56E-110 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 87802598 T G GRID1 CCDS31236.1 r.? - - intronic 31 0 0 103 10 9.7 109 7 6.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.666241779 0.666241779 1 0.477077951 0.477077951 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-10 1 0.00000149 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 87897909 A G GRID1 CCDS31236.1 r.? - - intronic 24 0 0 64 7 10.9 61 6 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.748663443 0.748663443 1 0.730525612 0.730525612 1 NA NA 1 NA NA 1 5 NA 1 1 3.78E-08 1 0.000000685 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 88045735 T G GRID1 CCDS31236.1 r.? - - intronic 29 0 0 75 51 68 62 36 58.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 4.670560928 0.934112186 5 4.330973274 1.082743318 4 NA NA 1 NA NA 1 5 NA 1 1 1.02E-98 1 2.69E-66 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 88291919 T A - - - - - - 33 0 0 72 6 8.3 64 12 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.570083172 0.570083172 1 1.401416481 1.401416481 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000184 1 6.3E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 88383386 C A - - - - - - 36 0 0 92 12 13 51 10 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.892901354 0.892901354 1 1.461051225 1.461051225 1 NA NA 1 NA NA 1 5 NA 1 1 6.12E-14 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 88457924 G T LDB3 CCDS41544.1 r.? - - intronic 25 0 0 72 48 66.7 85 51 60 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 4.581270793 0.916254159 5 4.472605791 0.894521158 5 NA NA 1 NA NA 1 5 NA 1 1 2.51E-92 1 2.31E-94 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 88667362 T C BMPR1A CCDS7378.1 r.? - - intronic 27 0 0 70 9 12.9 86 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.886032882 0.886032882 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 9.65E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 89156068 C T - - - - - - 23 0 0 88 20 22.7 79 14 17.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 1.559143133 0.779571567 2 1.319418708 1.319418708 1 NA NA 1 NA NA 1 5 NA 1 1 2.12E-27 1 5.6E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 89173969 A T - - - - - - 26 0 0 79 15 19 81 9 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 1.305009671 1.305009671 1 0.827432071 0.827432071 1 NA NA 1 NA NA 1 5 NA 1 1 1.22E-19 1 3.68E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 89255359 A T - - - - - - 33 0 0 41 8 19.5 45 5 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 1.339352031 1.339352031 1 0.827432071 0.827432071 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 89296775 C T MINPP1 CCDS7384.1 r.? - - intronic 35 0 0 79 60 75.9 66 47 71.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 5.213170213 1.042634043 5 5.307492205 1.061498441 5 NA NA 1 NA NA 1 5 NA 1 1 6.98E-121 1 1.12E-92 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 93648937 C T - - - - - - 24 0 0 34 7 20.6 16 8 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.590905222 0.590905222 1 1.727171492 1.727171492 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 4.85E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 93739580 G C BTAF1 CCDS7419.1 r.? - - intronic 42 0 0 33 15 45.5 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 2.91E-26 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 94536243 C T - - - - - - 38 0 0 46 18 39.1 29 12 41.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 1.430097996 1.430097996 1 NA NA 1 NA NA 1 5 NA 1 1 9.41E-30 1 1.17E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 94869892 C G - - - - - - 21 0 0 40 8 20 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 94876508 A G - - - - - - 23 0 0 48 11 22.9 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 9.31E-16 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 95271698 A T CEP55 CCDS7428.1 r.? - - intronic 25 0 0 41 12 29.3 41 13 31.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 1.412026726 1.412026726 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 1.89E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 95331231 A G GPR120 CCDS31248.1 r.? - - intronic 31 0 0 61 11 18 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.696324952 0.696324952 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 1.62E-14 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 95333689 G T GPR120 CCDS31248.1 r.? - - intronic 40 0 0 26 8 30.8 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 95984721 C T PLCE1 CCDS41552.1 r.? - - intronic 39 0 0 30 9 30 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 0.639053452 0.639053452 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 97947114 T A BLNK CCDS7446.1 r.? - - downstream 35 0 0 30 13 43.3 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.242048356 1.242048356 1 1.091572383 1.091572383 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 98804557 T C SLIT1 CCDS7453.1 r.? - - intronic 40 0 0 32 13 40.6 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.164599613 1.164599613 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-22 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 98829379 G T SLIT1 CCDS7453.1 r.? - - intronic 33 0 0 28 7 25 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 99259687 C A MMS19 CCDS7464.1 r.? - - upstream 27 0 0 26 9 34.6 21 9 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 5.44E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 99451249 A G AVPI1 CCDS7470.1 r.? - - upstream 32 0 0 21 7 33.3 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-12 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 101410153 T A - - - - - - 34 0 0 23 5 21.7 21 8 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.622458414 0.622458414 1 1.316104677 1.316104677 1 NA NA 1 NA NA 1 5 NA 1 1 9.75E-08 1 7.5E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 101819409 G T CPN1 CCDS7486.1 r.? - - intronic 43 0 0 22 12 54.5 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.563317215 1.563317215 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-22 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 101839346 G T CPN1 CCDS7486.1 r.? - - intronic 37 0 0 34 17 50 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-30 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 101958374 T C CHUK CCDS7488.1 r.? - - intronic 29 0 0 34 5 14.7 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.421665377 0.421665377 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 101968332 G T CHUK CCDS7488.1 r.? - - intronic 29 0 0 29 11 37.9 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 102375238 C A - - - - - - 33 0 0 28 10 35.7 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 102458039 G A - - - - - - 29 0 0 26 11 42.3 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 103214235 T C BTRC CCDS7512.1 r.? - - intronic 25 0 0 36 12 33.3 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 105260421 C G NEURL CCDS7551.1 r.? - - intronic 39 0 0 26 10 38.5 17 7 41.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 1.42318931 1.42318931 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 1.45E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 105628040 C A - - - - - - 34 0 0 25 5 20 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0.55614922 0.55614922 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000153 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 105668262 A C OBFC1 CCDS7552.1 r.? - - intronic 26 0 0 22 5 22.7 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.651143133 0.651143133 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 7.67E-08 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 105789771 G C SLK CCDS7553.1 r.? - - downstream 38 0 0 39 19 48.7 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.396945841 1.396945841 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-33 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 105850061 C T COL17A1 CCDS7554.1 r.? - - upstream 39 0 0 29 9 31 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 106503637 G T SORCS3 CCDS7558.1 r.? - - intronic 36 0 0 28 10 35.7 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 106655611 T A SORCS3 CCDS7558.1 r.? - - intronic 36 0 0 26 9 34.6 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 106703014 A T SORCS3 CCDS7558.1 r.? - - intronic 30 0 0 30 13 43.3 29 12 41.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.242048356 1.242048356 1 1.430097996 1.430097996 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 1.17E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 107245635 A T - - - - - - 39 0 0 32 11 34.4 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.986754352 0.986754352 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 107309052 G T - - - - - - 26 0 0 31 8 25.8 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.740065764 0.740065764 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 108378799 A T SORCS1 CCDS7559.1 r.? - - intronic 37 0 0 26 8 30.8 30 12 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 1.94E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 108386269 A G SORCS1 CCDS7559.1 r.? - - intronic 24 0 0 20 8 40 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 4.66E-14 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 108514070 C T SORCS1 CCDS7559.1 r.? - - intronic 35 0 0 28 10 35.7 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 0.998305122 0.998305122 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 109382747 C A - - - - - - 26 0 0 26 8 30.8 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 109714279 G T - - - - - - 32 0 0 24 9 37.5 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 110215974 G T - - - - - - 33 0 0 25 5 20 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 1.357556793 1.357556793 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000153 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 110227943 C A - - - - - - 52 0 0 29 10 34.5 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 110378645 C A - - - - - - 29 0 0 29 10 34.5 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 110575031 C G - - - - - - 47 0 0 28 9 32.1 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.920779497 0.920779497 1 1.008668151 1.008668151 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 110692124 C T - - - - - - 30 0 0 24 11 45.8 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.313760155 1.313760155 1 0.884311804 0.884311804 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-19 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 110855487 C A - - - - - - 36 0 0 29 9 31 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 0.639053452 0.639053452 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 111054682 C G - - - - - - 28 0 0 27 15 55.6 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.594870406 1.594870406 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 5.01E-28 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 111243354 G A - - - - - - 41 0 0 22 5 22.7 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.651143133 0.651143133 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 7.67E-08 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 111342527 G C - - - - - - 39 0 0 34 15 44.1 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.264996132 1.264996132 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-26 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 111460002 G T - - - - - - 36 0 0 23 10 43.5 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.2477853 1.2477853 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 1.05E-17 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 111460003 A T - - - - - - 36 0 0 23 10 43.5 23 9 39.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.2477853 1.2477853 1 1.350648107 1.350648107 1 NA NA 1 NA NA 1 5 NA 1 1 1.05E-17 1 1.5E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 111485834 G A - - - - - - 37 0 0 25 10 40 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.267743875 1.267743875 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 111606299 A T - - - - - - 43 0 0 33 14 42.4 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.216232108 1.216232108 1 0.538877506 0.538877506 1 NA NA 1 NA NA 1 5 NA 1 1 4.57E-24 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 112396536 G A - - - - - - 47 0 0 38 12 31.6 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.906437137 0.906437137 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 112583889 T G RBM20 CCDS44477.1 r.? - - intronic 34 0 0 37 6 16.2 30 2 6.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.464692456 0.464692456 1 0.23144098 0.23144098 1 NA NA 1 NA NA 1 4 NA 1 1 3.18E-08 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 112853027 A T - - - - - - 32 0 0 39 15 38.5 27 11 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 1.405917595 1.405917595 1 NA NA 1 NA NA 1 5 NA 1 1 6.85E-25 1 5.92E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 113036618 C A - - - - - - 33 0 0 30 6 20 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 8.37E-09 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 113095981 C A - - - - - - 40 0 0 22 7 31.8 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 113146496 C T - - - - - - 36 0 0 24 10 41.7 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 0.711594655 0.711594655 1 NA NA 1 NA NA 1 5 NA 1 1 1.8E-17 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 113222636 A C - - - - - - 42 0 0 38 15 39.5 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.133046422 1.133046422 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-25 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 113502931 T C - - - - - - 35 0 0 29 12 41.4 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 0.756501114 0.756501114 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 115169992 G C - - - - - - 28 0 0 27 9 33.3 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.001759465 1.001759465 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 115667548 A G NHLRC2 CCDS7585.1 r.? - - intronic 34 0 0 28 12 42.9 37 14 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 1.305741648 1.305741648 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 116043956 T A VWA2 CCDS7589.1 r.? - - intronic 42 0 0 21 8 38.1 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.092887814 1.092887814 1 0.55614922 0.55614922 1 NA NA 1 NA NA 1 5 NA 1 1 7.5E-14 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 116300359 A C ABLIM1 CCDS31288.1 r.? - - intronic 36 0 0 23 8 34.8 20 3 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 0.518151448 0.518151448 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 116630255 C A FAM160B1 CCDS44480.1 r.? - - intronic 35 0 0 30 9 30 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 116863979 T A ATRNL1 CCDS7592.1 r.? - - intronic 32 0 0 35 12 34.3 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.98388588 0.98388588 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 116992973 G C ATRNL1 CCDS7592.1 r.? - - intronic 34 0 0 40 14 35 21 5 23.8 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.003965184 1.003965184 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-22 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 117635219 C T ATRNL1 CCDS7592.1 r.? - - intronic 37 0 0 31 12 38.7 36 17 47.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.110098646 1.110098646 1 1.630449889 1.630449889 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 6E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 117793250 T A - - - - - - 33 0 0 31 14 45.2 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.296549323 1.296549323 1 1.119207127 1.119207127 1 NA NA 1 NA NA 1 5 NA 1 1 1.49E-24 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 118223924 T G PNLIPRP3 CCDS31292.1 r.? - - intronic 35 0 0 35 9 25.7 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.737197292 0.737197292 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 118411552 G A - - - - - - 44 0 0 25 12 48 36 15 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.376866538 1.376866538 1 1.440461024 1.440461024 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-21 1 1.54E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 118919273 G C - - - - - - 43 0 0 25 10 40 26 12 46.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.595906459 1.595906459 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 2.21E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 120032792 C T - - - - - - 31 0 0 27 9 33.3 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.084663697 1.084663697 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 120302712 G A - - - - - - 32 0 0 27 11 40.7 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 0.639053452 0.639053452 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 120340419 G A - - - - - - 30 0 0 33 15 45.5 32 5 15.6 0 0 NA 2 0 0 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 0.538877506 0.538877506 1 0 0 1 NA NA 1 5 NA 1 1 2.91E-26 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 120777626 C T - 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- - - - - 46 0 0 77 9 11.7 76 8 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6 7 6 7 0 0 1 1 NA NA NA NA NA NA 0.920611219 0.920611219 1 0.992706013 0.992706013 1 NA NA 0 NA NA 1 5 NA 1 1 2.32E-10 1 5.44E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 122251268 G T PPAPDC1A CCDS41573.1 r.? - - intronic 37 0 0 103 7 6.8 88 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6 7 6 7 0 0 1 1 NA NA NA NA NA NA 0.535056093 0.535056093 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000102 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 122329656 A C PPAPDC1A CCDS41573.1 r.? - - intronic 30 0 0 85 11 12.9 56 6 10.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6 7 6 7 0 0 1 1 NA NA NA NA NA NA 1.015032882 1.015032882 1 1.011614699 1.011614699 1 NA NA 0 NA NA 1 5 NA 1 1 7.42E-13 1 0.000000409 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 122764162 T C - - - - - - 24 0 0 92 11 12 78 8 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6 7 6 7 0 0 1 1 NA NA NA NA NA NA 0.944216634 0.944216634 1 0.973797327 0.973797327 1 NA NA 0 NA NA 1 5 NA 1 1 1.81E-12 1 6.71E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 122830656 A T - - - - - - 30 1 3.3 74 37 50 80 40 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6 7 6 7 0 0 1 1 NA NA NA NA NA NA 3.934235977 0.983558994 4 4.727171492 0.945434298 5 NA NA 0 NA NA 1 5 NA 0.139615808 1 1.06E-64 1 8.04E-70 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 123018981 T A - - - - - - 33 0 0 99 13 13.1 73 8 11 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6 7 6 7 0 0 1 1 NA NA NA NA NA NA 1.030769826 1.030769826 1 1.039977728 1.039977728 1 NA NA 0 NA NA 1 5 NA 1 1 5.06E-15 1 3.93E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 123257246 A C FGFR2 CCDS44486.1 r.? - - intronic 32 0 0 82 49 59.8 64 31 48.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6 7 6 7 0 0 1 1 NA NA NA NA NA NA 4.705346228 0.941069246 5 4.575902004 0.915180401 5 NA NA 0 NA NA 1 5 NA 1 1 1.36E-90 1 7.05E-54 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 123398765 T A - - - - - - 22 0 0 95 14 14.7 68 12 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6 7 6 7 0 0 1 1 NA NA NA NA NA NA 1.156665377 1.156665377 1 1.663964365 0.831982183 2 NA NA 0 NA NA 1 5 NA 1 1 8.54E-17 1 1.37E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 123474128 T C - - - - - - 35 0 0 67 26 38.8 67 22 32.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6 7 6 7 0 0 1 1 NA NA NA NA NA NA 3.052967118 1.017655706 3 3.101024499 1.033674833 3 NA NA 0 NA NA 1 5 NA 1 1 3.31E-42 1 5.21E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 123485496 T C - - - - - - 31 0 0 91 10 11 67 4 6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6 7 6 7 0 0 1 1 NA NA NA NA NA NA 0.865531915 0.865531915 1 0.567260579 0.567260579 1 NA NA 0 NA NA 1 5 NA 1 1 4.34E-11 1 0.000372648 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 123498112 A G ATE1 CCDS31299.1 r.? - - downstream 29 0 0 82 7 8.5 77 10 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6 7 6 7 0 0 1 1 NA NA NA NA NA NA 0.668820116 0.668820116 1 1.229064588 1.229064588 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000214 1 7.9E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 123539967 C G ATE1 CCDS31299.1 r.? - - intronic 31 0 0 85 11 12.9 76 4 5.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6 7 6 7 0 0 1 1 NA NA NA NA NA NA 1.015032882 1.015032882 1 0.501080178 0.501080178 1 NA NA 0 NA NA 1 5 NA 1 1 7.42E-13 1 0.00060191 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 123742225 C A - - - - - - 31 0 0 66 13 19.7 80 9 11.2 0 0 NA 2 0 0 0 0 NA TRUE FALSE 6 7 6 7 0 0 1 1 NA NA NA NA NA NA 1.550088975 1.550088975 1 1.058886414 1.058886414 1 0 NA 0 NA NA 1 5 NA 1 1 1.95E-17 1 3.29E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 123853525 G C TACC2 CCDS7626.1 r.? - - intronic 32 0 0 76 8 10.5 70 5 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6 7 6 7 0 0 1 1 NA NA NA NA NA NA 0.826189555 0.826189555 1 0.671258352 0.671258352 1 NA NA 0 NA NA 1 5 NA 1 1 5.44E-09 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 124093472 A T BTBD16 CCDS31301.1 r.? - - intronic 36 0 0 70 12 17.1 75 6 8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6 7 6 7 0 0 1 1 NA NA NA NA NA NA 1.345508704 1.345508704 1 0.756347439 0.756347439 1 NA NA 0 NA NA 1 5 NA 1 1 1.99E-15 1 0.00000234 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 124459050 G C C10orf120 CCDS31302.1 r.? - - intronic 25 0 0 38 13 34.2 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 124496247 G T - - - - - - 21 0 0 40 7 17.5 35 9 25.7 0 0 NA 1 0 0 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.676982592 0.676982592 1 1.144766147 1.144766147 1 0 0 1 NA NA 1 5 NA 1 1 1.26E-09 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 124686718 T A C10orf88 CCDS7632.1 r.? - - downstream 39 0 0 43 11 25.6 46 5 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.485523385 0.485523385 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 124722897 A G - - - - - - 36 0 0 43 6 14 32 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.541586074 0.541586074 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 8.13E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 124856435 A C - - - - - - 33 0 0 45 11 24.4 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-16 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 125292225 A G - - - - - - 26 0 0 47 6 12.8 35 1 2.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.49516441 0.49516441 1 0.129175947 0.129175947 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000141 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 125380296 C T - - - - - - 35 0 0 40 10 25 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 125976960 G A - - - - - - 33 0 0 35 9 25.7 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 126335830 A T FAM53B CCDS7641.1 r.? - - intronic 31 0 0 36 5 13.9 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.537717602 0.537717602 1 0.538975501 0.538975501 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000104 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 126523132 T G FAM175B CCDS31308.2 r.885u>g c.840T>G p.S280R missense 21 0 0 29 12 41.4 27 4 14.8 281 0 0 160 44 27.5 126 8 6.3 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.601547389 0.800773694 2 0.659242762 0.659242762 1 1.063829787 1.063829787 1 0.280623608 0.280623608 1 5 5 1 1 1.17E-20 1.68E-62 0.00001 0.000000291 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 10 126832063 C A CTBP2 CCDS7643.1 r.? - - intronic 42 0 0 37 13 35.1 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.357833656 1.357833656 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 126841151 G A CTBP2 CCDS7643.1 r.? - - intronic 27 0 0 43 13 30.2 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.16827853 1.16827853 1 1.287305122 1.287305122 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-20 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 126898216 T G - - - - - - 28 0 0 41 19 46.3 38 17 44.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.791102515 0.895551257 2 1.991091314 0.995545657 2 NA NA 1 NA NA 1 5 NA 1 1 4.2E-33 1 1.99E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 127355931 G A C10orf122 CCDS44493.1 r.? - - intronic 33 0 0 37 12 32.4 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 127664171 A T FANK1 CCDS31309.1 r.? - - intronic 44 0 0 38 13 34.2 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 127812612 A C ADAM12 CCDS7653.1 r.? - - intronic 33 0 0 45 17 37.8 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.462282398 0.731141199 2 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 7.37E-28 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 127943337 G A ADAM12 CCDS7653.1 r.? - - intronic 37 0 0 30 10 33.3 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 128014518 C G ADAM12 CCDS7653.1 r.? - - intronic 27 0 0 56 11 19.6 65 10 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 5.91E-15 1 1.36E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 128144190 A T C10orf90 CCDS31310.1 r.? - - intronic 30 0 0 48 17 35.4 25 7 28 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.369439072 1.369439072 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 2.8E-27 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 128192621 A C C10orf90 CCDS31310.1 r.1269u>g c.1148T>G p.V383G missense 32 0 0 47 27 57.4 36 18 50 197 0 0 127 69 54.3 24 7 29.2 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.220502901 1.110251451 2 2.227171492 1.113585746 2 2.100580271 1.050290135 2 1.300668151 1.300668151 1 5 4 1 1 6.6E-50 9.53E-123 3.18E-32 2.51E-11 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 128542910 C T - - - - - - 27 0 0 54 21 38.9 45 14 31.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.50483559 0.752417795 2 1.385300668 1.385300668 1 NA NA 1 NA NA 1 5 NA 1 1 2.12E-34 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 128781850 C G DOCK1 ENST00000398025 r.? - - intronic 28 0 0 41 8 19.5 53 10 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.754352031 0.754352031 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 1.57E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 128970090 C G DOCK1 ENST00000398025 r.? - - intronic 30 1 3.3 40 15 37.5 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 1.750556793 0.875278396 2 NA NA 1 NA NA 1 5 NA 0.139615808 1 1.09E-24 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 129116719 A G DOCK1 ENST00000398025 r.? - - intronic 39 0 0 33 10 30.3 20 5 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 129532764 G A FOXI2 CCDS7655.2 r.? - - upstream 41 0 0 38 14 36.8 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.423597679 1.423597679 1 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 129757689 T G PTPRE CCDS7657.1 r.? - - intronic 26 0 0 31 7 22.6 37 8 21.6 123 1 0.8 69 25 36.2 90 3 3.3 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 0.962138085 0.962138085 1 1.400386847 0.700193424 2 0.146993318 0.146993318 1 5 5 1 0.460192478 1.85E-10 1E-39 1.33E-11 0.01062894 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 10 129757723 T C PTPRE CCDS7657.1 r.? - - intronic 27 0 0 33 6 18.2 42 8 19 111 0 0 64 19 29.7 92 3 3.3 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 0.846325167 0.846325167 1 1.14893617 1.14893617 1 0.146993318 0.146993318 1 5 5 1 1 1.54E-08 1.34E-28 3.96E-11 0.011278661 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 10 129757738 A C PTPRE CCDS7657.1 r.? - - intronic 29 0 0 33 4 12.1 45 7 15.6 111 0 0 55 15 27.3 89 3 3.4 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.468085106 0.468085106 1 0.694877506 0.694877506 1 1.056092843 1.056092843 1 0.151447661 0.151447661 1 5 5 1 1 0.0000228 3.01E-22 0.000000003 0.01031245 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 10 129859765 T A PTPRE CCDS7657.1 r.? - - intronic 28 0 0 35 13 37.1 51 12 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.435203095 1.435203095 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 3.24E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 129969455 C A - - - - - - 31 0 0 41 14 34.1 39 16 41 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 1.826280624 0.913140312 2 NA NA 1 NA NA 1 5 NA 1 1 1.9E-22 1 5.16E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 130237951 C T - - - - - - 25 0 0 41 7 17.1 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 130409211 C A - - - - - - 41 0 0 33 8 24.2 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 130448120 C T - - - - - - 33 1 3 35 10 28.6 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.538975501 0.538975501 1 NA NA 1 NA NA 1 5 NA 0.15245715 1 1.6E-15 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 130605099 A T - - - - - - 27 0 0 32 4 12.5 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000201 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 130610204 C A - - - - - - 28 0 0 33 11 33.3 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 130836966 T G - - - - - - 16 0 0 36 12 33.3 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 130899130 G T - - - - - - 36 0 0 50 14 28 50 14 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.083172147 1.083172147 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 4.84E-21 1 4.84E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 130978030 C T - - - - - - 45 0 0 39 7 17.9 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 0.708240535 0.708240535 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 131129442 A T - - - - - - 24 0 0 43 10 23.3 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 131218993 G T - - - - - - 49 0 0 36 6 16.7 32 3 9.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.418708241 0.418708241 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 131235718 G C - - - - - - 19 0 0 35 13 37.1 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.435203095 1.435203095 1 0.659242762 0.659242762 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 131595250 A G - - - - - - 29 0 0 35 12 34.3 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.32688588 1.32688588 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 131866153 A C - - - - - - 31 0 0 34 14 41.2 36 3 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.593810445 0.796905222 2 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 7.74E-24 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 131931142 A C GLRX3 CCDS7661.1 r.? - - upstream 44 0 0 39 10 25.6 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 131987052 C T - - - - - - 28 0 0 40 15 37.5 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-24 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 132193136 T C - - - - - - 21 0 0 39 8 20.5 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 132311297 C A - - - - - - 28 0 0 45 13 28.9 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 7.68E-20 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 132324479 G A - - - - - - 36 0 0 39 17 43.6 36 16 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.686653772 0.843326886 2 1.977728285 0.988864143 2 NA NA 1 NA NA 1 5 NA 1 1 3.51E-29 1 1.01E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 132355830 G T - - - - - - 33 0 0 46 13 28.3 34 9 26.5 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.094777563 1.094777563 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 1.07E-19 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 132365647 G A - - - - - - 24 0 0 28 12 42.9 21 7 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.659574468 0.829787234 2 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 8.54E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 132366600 C G - - - - - - 33 0 0 29 6 20.7 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.800773694 0.800773694 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 132420962 C T - - - - - - 31 0 0 49 25 51 35 18 51.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.972920696 0.986460348 2 2.289532294 1.144766147 2 NA NA 1 NA NA 1 5 NA 1 1 1.68E-44 1 1.6E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 132575797 C T - - - - - - 32 0 0 27 18 66.7 41 16 39 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.580270793 1.290135397 2 1.737193764 0.868596882 2 NA NA 1 NA NA 1 5 NA 1 1 1.71E-35 1 1.4E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 132577503 A T - - - - - - 29 0 0 31 11 35.5 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.373307544 1.373307544 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 132631214 G T - - - - - - 29 0 0 43 10 23.3 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 132636368 A G - - - - - - 32 0 0 40 10 25 34 3 8.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.391982183 0.391982183 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 132737314 A T - - - - - - 21 0 0 36 9 25 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 132756404 G A - - - - - - 34 0 0 32 20 62.5 37 19 51.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.417794971 1.208897485 2 2.289532294 1.144766147 2 NA NA 1 NA NA 1 5 NA 1 1 2.03E-38 1 3.09E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 132819592 C T - - - - - - 27 0 0 33 8 24.2 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 133005937 C A TCERG1L CCDS7662.2 r.? - - intronic 38 0 0 31 7 22.6 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 133041132 T A TCERG1L CCDS7662.2 r.? - - intronic 23 0 0 37 8 21.6 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 133042109 A G TCERG1L CCDS7662.2 r.? - - intronic 26 0 0 40 9 22.5 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 133067496 T G TCERG1L CCDS7662.2 r.? - - intronic 33 0 0 22 7 31.8 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.230174081 1.230174081 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 133250801 A T - - - - - - 27 0 0 33 11 33.3 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 133377908 C G - - - - - - 35 0 0 35 9 25.7 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 133595511 C A - - - - - - 37 0 0 39 6 15.4 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 4.43E-08 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 133647829 A T - - - - - - 24 0 0 30 6 20 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 8.37E-09 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 133771837 G A PPP2R2D ENST00000455566 r.3639g>a c.? p.? 3'UTR variant 16 0 0 11 4 36.4 16 6 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.408123791 1.408123791 1 1.670378619 1.670378619 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000201 1 1.2E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 133890224 C G - - - - - - 29 0 0 43 8 18.6 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 133948354 C T JAKMIP3 CCDS44494.1 r.? - - intronic 23 0 0 40 13 32.5 22 3 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 0.605790646 0.605790646 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 134194399 G A LRRC27 CCDS44496.1 r.7536g>a c.? p.? 3'UTR variant 21 0 0 44 10 22.7 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 134208579 C G PWWP2B CCDS7667.2 r.? - - upstream 26 0 0 35 23 65.7 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.541586074 1.270793037 2 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 9.39E-45 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 134646575 C G C10orf92 ENST00000368586 r.? - - intronic 32 0 0 39 13 33.3 45 14 31.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.385300668 1.385300668 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 134794354 G C - - - - - - 23 0 0 31 5 16.1 17 4 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.622823985 0.622823985 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000476 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 134895604 C A GPR123 ENST00000392609 r.? - - intronic 26 0 0 37 10 27 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 438638 C A ANO9 CCDS31326.1 r.? - - intronic 18 0 0 29 10 34.5 15 5 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 0.000000009 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 1071661 G T MUC2 ENST00000441003 r.? - - upstream 26 0 0 46 14 30.4 24 3 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.176015474 1.176015474 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-21 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 1706460 T C - - - - - - 16 0 0 24 7 29.2 20 2 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.12959381 1.12959381 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 0.004473894 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 2007094 G T MRPL23 ENST00000397297 r.? - - downstream 35 0 0 36 8 22.2 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 2878836 G A - - - - - - 14 0 0 26 8 30.8 12 2 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.499489362 1.499489362 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 0.001595918 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 3217568 T A - - - - - - 31 0 0 40 13 32.5 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.582253385 0.791126692 2 1.123594655 1.123594655 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 3256624 C G MRGPRE CCDS41603.1 r.? - - upstream 28 0 0 64 10 15.6 46 10 21.7 0 0 NA 2 2 100 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.759481625 0.759481625 1 1.183592428 1.183592428 1 4.868471954 2.434235977 2 NA NA 1 5 NA 1 1 1.16E-12 0.000025 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 3551494 T A - - - - - - 38 0 0 47 9 19.1 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.929878143 0.929878143 1 0.883603563 0.883603563 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-12 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 3583395 A C - - - - - - 38 0 0 64 32 50 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.434235977 1.217117988 2 1.401766147 1.401766147 1 NA NA 1 NA NA 1 5 NA 1 1 3.65E-56 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 3883769 C A STIM1 CCDS7749.1 r.? - - intronic 41 0 0 51 6 11.8 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.574479691 0.574479691 1 1.167229399 1.167229399 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000232 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 3966763 A C STIM1 CCDS7749.1 r.? - - intronic 24 0 0 61 15 24.6 51 14 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.197644101 1.197644101 1 1.499944321 1.499944321 1 NA NA 1 NA NA 1 5 NA 1 1 1.73E-21 1 6.64E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 4155556 T A RRM1 CCDS7750.1 r.? - - intronic 34 0 0 58 5 8.6 52 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.418688588 0.418688588 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000115 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 4405631 T A TRIM21 CCDS44525.1 r.? - - downstream 22 0 0 43 12 27.9 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.358303675 1.358303675 1 0.796334076 0.796334076 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 4466207 C A OR52K2 CCDS31351.1 r.? - - upstream 30 0 0 45 15 33.3 33 7 21.2 0 0 NA 2 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.621201161 0.81060058 2 1.156320713 1.156320713 1 0 0 1 NA NA 1 5 NA 1 1 9.14E-24 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 4729014 G T ENSG00000197426 ENST00000357170 r.? - - upstream 36 0 0 45 11 24.4 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.187907157 1.187907157 1 0.889057906 0.889057906 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-16 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 4729015 C T ENSG00000197426 ENST00000357170 r.? - - upstream 37 0 0 44 10 22.7 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.105143133 1.105143133 1 0.889057906 0.889057906 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 4862928 C T MMP26 CCDS7752.1 r.? - - intronic 23 0 0 45 10 22.2 53 8 15.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.080800774 1.080800774 1 0.823605791 0.823605791 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 2.83E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 4926783 A C MMP26 CCDS7752.1 r.? - - intronic 28 0 0 47 8 17 54 13 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.827640232 0.827640232 1 1.314496659 1.314496659 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-10 1 1.12E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 4958181 G A MMP26 CCDS7752.1 r.? - - intronic 38 0 0 52 11 21.2 64 8 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.032116054 1.032116054 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-15 1 1.35E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 5032706 G T - - - - - - 26 0 0 46 5 10.9 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.530663443 0.530663443 1 1.167229399 1.167229399 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000361 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 5051646 A T - - - - - - 34 0 0 49 11 22.4 38 5 13.2 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.090537718 1.090537718 1 0.719973274 0.719973274 1 NA NA 1 0 0 1 5 NA 1 1 1.19E-15 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 5129291 C T - - - - - - 50 0 0 44 7 15.9 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.774087041 0.774087041 1 1.178138085 1.178138085 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 5203600 C A OR52A1 CCDS31374.1 r.? - - intronic 28 0 0 43 6 14 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.681586074 0.681586074 1 0.970873051 0.970873051 1 NA NA 1 NA NA 1 5 NA 1 1 8.13E-08 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 5255527 T G HBD CCDS31376.1 r.? - - intronic 32 0 0 68 14 20.6 35 3 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.002905222 1.002905222 1 0.469073497 0.469073497 1 NA NA 1 NA NA 1 5 NA 1 1 5.84E-19 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 5307539 C A HBG2 CCDS7755.1 r.? - - intronic 38 0 0 55 8 14.5 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.705928433 0.705928433 1 1.156320713 1.156320713 1 NA NA 1 NA NA 1 5 NA 1 1 3.86E-10 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 5430842 G C HBG2 CCDS7755.1 r.? - - intronic 28 0 0 48 5 10.4 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.506321083 0.506321083 1 1.51630735 1.51630735 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000447 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 5530147 C T UBQLN3 CCDS7758.1 r.790g>a c.642G>A p.P214P silent 23 0 0 55 10 18.2 49 9 18.4 267 1 0.4 173 35 20.2 29 0 0 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.886061896 0.886061896 1 1.003599109 1.003599109 1 0.983431335 0.983431335 1 0 0 1 5 5 1 0.73772158 2.33E-13 7.68E-45 3.35E-12 1 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9776b 11 5591622 G A HBG2 CCDS7755.1 r.? - - intronic 38 0 0 31 9 29 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.411856867 1.411856867 1 0.954510022 0.954510022 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 5608693 G A HBG2 CCDS7755.1 r.? - - intronic 38 0 0 54 14 25.9 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.260934236 1.260934236 1 1.325405345 1.325405345 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-20 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 5858101 G C TRIM5 CCDS31392.1 r.? - - intronic 27 0 0 42 10 23.8 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.158696325 1.158696325 1 1.598122494 1.598122494 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 5924080 T A TRIM5 ENST00000412903 r.? - - intronic 34 0 0 51 8 15.7 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.764350097 0.764350097 1 1.401766147 1.401766147 1 NA NA 1 NA NA 1 5 NA 1 1 2.05E-10 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 5949343 C A TRIM5 ENST00000412903 r.? - - intronic 37 0 0 41 10 24.4 52 11 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.187907157 1.187907157 1 1.156320713 1.156320713 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 6001676 C T - - - - - - 39 0 0 51 11 21.6 56 8 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.051589942 1.051589942 1 0.779971047 0.779971047 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-15 1 4.48E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 6042821 T G - - - - - - 41 0 0 48 12 25 55 7 12.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 0.692701559 0.692701559 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-17 1 1.28E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 6181009 T C - - - - - - 37 1 2.7 54 14 25.9 32 2 6.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.260934236 1.260934236 1 0.338169265 0.338169265 1 NA NA 1 NA NA 1 5 NA 0.169281299 1 1.64E-20 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 6259099 G A FAM160A2 CCDS44530.1 r.? - - upstream 16 0 0 52 11 21.2 48 7 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.032116054 1.032116054 1 0.796334076 0.796334076 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-15 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 6300847 T A - - - - - - 22 0 0 52 13 25 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.014507795 1.014507795 1 NA NA 1 NA NA 1 5 NA 1 1 6.47E-19 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 6336862 C A PRKCDBP CCDS7762.1 r.? - - downstream 27 0 0 41 11 26.8 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.304750484 1.304750484 1 0.763608018 0.763608018 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 6728397 C A - - - - - - 38 0 0 46 15 32.6 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.587121857 0.793560928 2 0.949055679 0.949055679 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-23 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 6936429 T G - - - - - - 37 0 0 34 4 11.8 47 5 10.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.574479691 0.574479691 1 0.578160356 0.578160356 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000257 1 0.00000402 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 7056723 C G NLRP14 CCDS7776.1 r.? - - intronic 45 0 0 44 8 18.2 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.886061896 0.886061896 1 0.954510022 0.954510022 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 7238224 T C - - - - - - 36 0 0 50 6 12 35 3 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.584216634 0.584216634 1 0.469073497 0.469073497 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000206 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 7398275 T C SYT9 CCDS7778.1 r.? - - intronic 37 0 0 61 10 16.4 51 12 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.7984294 0.7984294 1 1.281770601 1.281770601 1 NA NA 1 NA NA 1 5 NA 1 1 6.98E-13 1 3.24E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 7482215 T C SYT9 CCDS7778.1 r.? - - intronic 31 0 0 49 8 16.3 51 8 15.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.793560928 0.793560928 1 0.856331849 0.856331849 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-10 1 2.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 7729970 C A OVCH2 ENST00000454689 r.? - - upstream 39 0 0 41 5 12.2 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.593953578 0.593953578 1 1.598122494 1.598122494 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000202 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 7756404 G A - - - - - - 30 0 0 47 11 23.4 24 3 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.139222437 1.139222437 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 5 NA 1 1 7.21E-16 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 7760064 G T - - - - - - 30 0 0 42 13 31 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.509226306 1.509226306 1 0.959964365 0.959964365 1 NA NA 1 NA NA 1 5 NA 1 1 2.72E-20 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 7974786 A T - - - - - - 40 0 0 39 15 38.5 49 16 32.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.874361702 0.937180851 2 1.783570156 0.891785078 2 NA NA 1 NA NA 1 5 NA 1 1 6.85E-25 1 4.37E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 8058193 G T TUB CCDS7786.1 r.? - - upstream 31 0 0 46 8 17.4 53 8 15.1 2 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.84711412 0.84711412 1 0.823605791 0.823605791 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-11 1 2.83E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 8087931 C T TUB CCDS7786.1 r.? - - intronic 36 0 0 43 19 44.2 29 14 48.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.151864603 1.075932302 2 2.634447661 1.317223831 2 NA NA 1 NA NA 1 5 NA 1 1 1.36E-32 1 4.41E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 8183430 C T RIC3 CCDS7788.1 r.? - - intronic 40 0 0 59 7 11.9 45 4 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.579348162 0.579348162 1 0.485436526 0.485436526 1 NA NA 1 NA NA 1 5 NA 1 1 2.12E-08 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 8370563 G A - - - - - - 35 0 0 48 11 22.9 50 13 26 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.114880077 1.114880077 1 1.418129176 1.418129176 1 NA NA 1 NA NA 1 5 NA 1 1 9.31E-16 1 3.65E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 8450263 G T STK33 CCDS7789.1 r.? - - intronic 32 0 0 40 8 20 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 0.927238307 0.927238307 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 8470319 A C STK33 CCDS7789.1 r.? - - intronic 29 0 0 46 16 34.8 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.69422824 0.84711412 2 1.390857461 1.390857461 1 NA NA 1 NA NA 1 5 NA 1 1 1.31E-25 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 8475260 A T STK33 CCDS7789.1 r.? - - intronic 50 0 0 47 13 27.7 64 8 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.348566731 1.348566731 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-19 1 1.35E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 8866932 C A ST5 CCDS7791.1 r.? - - intronic 36 0 0 46 8 17.4 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.84711412 0.84711412 1 0.829060134 0.829060134 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-11 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 9093255 C T SCUBE2 CCDS7797.1 r.? - - intronic 38 0 0 62 9 14.5 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.705928433 0.705928433 1 1.330859688 1.330859688 1 NA NA 1 NA NA 1 5 NA 1 1 3.12E-11 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 9627018 C G - - - - - - 35 0 0 46 10 21.7 43 4 9.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.056458414 1.056458414 1 0.507253898 0.507253898 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-14 1 0.000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 9661986 C A - - - - - - 23 0 0 45 8 17.8 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.866588008 0.866588008 1 0.659975501 0.659975501 1 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 9775631 C T SWAP70 CCDS31426.1 r.? - - downstream 33 0 0 54 16 29.6 40 4 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.441067698 1.441067698 1 0.545434298 0.545434298 1 NA NA 1 NA NA 1 5 NA 1 1 2.69E-24 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 9834145 G A SBF2 CCDS31427.1 r.4227c>u c.4089C>T p.S1363S silent 37 0 0 36 12 33.3 45 18 40 218 0 0 123 53 43.1 224 135 60.3 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.621201161 0.81060058 2 2.181737194 1.090868597 2 2.098311412 1.049155706 2 3.28896882 1.64448441 2 5 4 1 1 2.73E-19 1.87E-87 5.76E-30 1.86E-247 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 11 9961621 G C SBF2 CCDS31427.1 r.? - - intronic 26 0 0 48 12 25 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.063596882 1.063596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-17 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 10287318 A T SBF2 CCDS31427.1 r.? - - intronic 30 0 0 42 13 31 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.509226306 1.509226306 1 1.123594655 1.123594655 1 NA NA 1 NA NA 1 5 NA 1 1 2.72E-20 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 10473252 A T AMPD3 CCDS44537.1 r.? - - upstream 37 0 0 51 7 13.7 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.666980658 0.666980658 1 0.976327394 0.976327394 1 NA NA 1 NA NA 1 5 NA 1 1 7.46E-09 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 10600046 T A MRVI1 CCDS44539.1 r.? - - intronic 25 0 0 52 12 23.1 46 4 8.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.124617021 1.124617021 1 0.47452784 0.47452784 1 NA NA 1 NA NA 1 5 NA 1 1 4.19E-17 1 0.0000862 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 10674242 A C MRVI1 CCDS44539.1 r.? - - intronic 30 0 0 63 14 22.2 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.080800774 1.080800774 1 1.156320713 1.156320713 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-19 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 10936517 A G - - - - - - 31 0 0 43 9 20.9 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.017510638 1.017510638 1 0.976327394 0.976327394 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 11390018 G C GALNTL4 CCDS7807.1 r.? - - intronic 45 0 0 61 24 39.3 50 14 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.913309478 0.956654739 2 1.527216036 1.527216036 1 NA NA 1 NA NA 1 5 NA 1 1 2.97E-39 1 4.84E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 11505869 G C GALNTL4 CCDS7807.1 r.? - - intronic 25 0 0 49 8 16.3 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.793560928 0.793560928 1 0.981781737 0.981781737 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-10 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 11530086 G A GALNTL4 CCDS7807.1 r.? - - intronic 30 0 0 59 22 37.3 45 14 31.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.815940039 0.907970019 2 1.696300668 0.848150334 2 NA NA 1 NA NA 1 5 NA 1 1 1.79E-35 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 11648827 A T - - - - - - 59 0 0 49 7 14.3 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 0.605432071 0.605432071 1 NA NA 1 NA NA 1 5 NA 1 1 5.58E-09 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 11766592 T C - - - - - - 34 0 0 40 5 12.5 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.608558994 0.608558994 1 1.069051225 1.069051225 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000178 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 11965023 A G USP47 CCDS41619.1 r.? - - intronic 42 0 0 43 11 25.6 58 9 15.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.24632882 1.24632882 1 0.845423163 0.845423163 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 13058579 A T - - - - - - 41 0 0 53 16 30.2 50 10 20 0 0 NA 2 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.47027853 1.47027853 1 1.090868597 1.090868597 1 0 0 1 NA NA 1 5 NA 1 1 1.9E-24 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 13512315 T A PTH CCDS7812.1 r.? - - downstream 36 0 0 46 12 26.1 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.27067118 1.27067118 1 1.363585746 1.363585746 1 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 13553290 A G - - - - - - 32 0 0 47 11 23.4 43 6 14 1 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.139222437 1.139222437 1 0.763608018 0.763608018 1 NA NA 1 NA NA 1 5 NA 1 1 7.21E-16 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 13683135 G T - - - - - - 25 0 0 54 12 22.2 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.080800774 1.080800774 1 1.210864143 1.210864143 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-17 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 13769596 C A - - - - - - 40 0 0 41 9 22 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.07106383 1.07106383 1 0.872694878 0.872694878 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 13819263 G A - - - - - - 27 0 0 33 8 24.2 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.178170213 1.178170213 1 1.118140312 1.118140312 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 13930346 G C - - - - - - 31 0 0 47 12 25.5 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.241460348 1.241460348 1 0.763608018 0.763608018 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 14181156 A G SPON1 ENST00000310358 r.? - - intronic 24 0 0 37 8 21.6 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.051589942 1.051589942 1 1.576305122 1.576305122 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 14220211 G T SPON1 ENST00000310358 r.? - - intronic 30 0 0 59 15 25.4 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.236591876 1.236591876 1 0.867240535 0.867240535 1 NA NA 1 NA NA 1 5 NA 1 1 9.9E-22 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 15043397 T G CALCB CCDS7820.1 r.? - - intronic 27 0 0 48 12 25 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.499944321 1.499944321 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-17 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 15334063 A G - - - - - - 40 0 0 45 9 20 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 0.725427617 0.725427617 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-12 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 15760193 G T - - - - - - 38 0 0 41 10 24.4 40 4 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.187907157 1.187907157 1 0.545434298 0.545434298 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 15779925 G A - - - - - - 28 0 0 39 9 23.1 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.124617021 1.124617021 1 0.796334076 0.796334076 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 15839862 G C - - - - - - 36 0 0 49 5 10.2 50 6 12 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.496584139 0.496584139 1 0.654521158 0.654521158 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000496 1 0.000000206 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 16100121 A T SOX6 CCDS7821.1 r.? - - intronic 41 0 0 61 12 19.7 46 15 32.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.959088975 0.959088975 1 1.778115813 0.889057906 2 NA NA 1 NA NA 1 5 NA 1 1 3.39E-16 1 1.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 16138641 A T SOX6 CCDS7821.1 r.? - - intronic 22 0 0 46 12 26.1 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.27067118 1.27067118 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 16683275 G T - - - - - - 25 0 0 36 9 25 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.690846325 0.845423163 2 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 16727578 G C - - - - - - 26 0 0 39 13 33.3 37 14 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.621201161 0.81060058 2 2.061741648 1.030870824 2 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 17035406 G A PLEKHA7 CCDS31434.1 r.? - - intronic 33 0 0 45 20 44.4 17 11 64.7 0 0 NA 1 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.161601547 1.080800774 2 3.528959911 1.764479955 2 0 0 1 NA NA 1 5 NA 1 1 2.68E-34 1 5.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 17100011 G A RPS13 CCDS7823.1 r.? - - upstream 16 0 0 44 12 27.3 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.329092843 1.329092843 1 1.030870824 1.030870824 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 17340180 C G NUCB2 CCDS41623.1 r.? - - intronic 23 0 0 39 5 12.8 47 7 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.62316441 0.62316441 1 0.812697105 0.812697105 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000156 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 17436800 G C ABCC8 CCDS31437.1 r.? - - intronic 31 0 0 49 12 24.5 37 1 2.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.192775629 1.192775629 1 0.147267261 0.147267261 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 17438829 A G ABCC8 CCDS31437.1 r.? - - intronic 34 0 0 43 5 11.6 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.564742747 0.564742747 1 1.396311804 1.396311804 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000257 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 17647331 G T OTOG ENST00000399397 r.? - - intronic 30 0 0 62 14 22.6 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.100274662 1.100274662 1 1.036325167 1.036325167 1 NA NA 1 NA NA 1 5 NA 1 1 1.42E-19 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 17700440 C T - - - - - - 28 0 0 45 17 37.8 39 18 46.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.840282398 0.920141199 2 2.519906459 1.259953229 2 NA NA 1 NA NA 1 5 NA 1 1 7.37E-28 1 2.15E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 17847169 C T SERGEF CCDS7828.1 r.? - - intronic 36 0 0 64 10 15.6 45 5 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.759481625 0.759481625 1 0.605432071 0.605432071 1 NA NA 1 NA NA 1 5 NA 1 1 1.16E-12 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 17898294 T G SERGEF CCDS7828.1 r.? - - intronic 31 0 0 38 7 18.4 42 5 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.895798839 0.895798839 1 0.649066815 0.649066815 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 18116116 A C SAAL1 CCDS31439.1 r.? - - intronic 27 0 0 57 13 22.8 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.110011605 1.110011605 1 0.949055679 0.949055679 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 18198739 A T MRGPRX4 CCDS7831.1 r.? - - downstream 37 0 0 50 19 38 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.850019342 0.925009671 2 1.249044543 1.249044543 1 NA NA 1 NA NA 1 5 NA 1 1 5E-31 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 18823667 C T - - - - - - 29 0 0 37 9 24.3 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.183038685 1.183038685 1 1.505398664 1.505398664 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 19098724 A G - - - - - - 36 0 0 43 7 16.3 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.793560928 0.793560928 1 0.867240535 0.867240535 1 NA NA 1 NA NA 1 5 NA 1 1 2.15E-09 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 19098733 A G - - - - - - 32 0 0 46 6 13 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.632901354 0.632901354 1 0.632703786 0.632703786 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 19265837 C G E2F8 CCDS7849.1 r.? - - upstream 42 0 0 58 5 8.6 45 2 4.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.418688588 0.418688588 1 0.239991091 0.239991091 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000115 1 0.021467209 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 19345717 C G - - - - - - 40 0 0 52 11 21.2 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.032116054 1.032116054 1 0.703610245 0.703610245 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-15 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 19407798 G T - - - - - - 37 0 0 52 26 50 39 18 46.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.434235977 1.217117988 2 2.519906459 1.259953229 2 NA NA 1 NA NA 1 5 NA 1 1 6.52E-46 1 2.15E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 19608018 C A - - - - - - 38 0 0 55 7 12.7 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.618295938 0.618295938 1 1.259953229 1.259953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-08 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 19641173 T G - - - - - - 38 0 0 48 9 18.8 40 3 7.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.915272727 0.915272727 1 0.409075724 0.409075724 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 19676311 T G - - - - - - 41 0 0 46 13 28.3 41 13 31.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.377777563 1.377777563 1 1.729026726 0.864513363 2 NA NA 1 NA NA 1 5 NA 1 1 1.07E-19 1 1.89E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 19693161 C G - - - - - - 30 0 0 53 12 22.6 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.100274662 1.100274662 1 0.796334076 0.796334076 1 NA NA 1 NA NA 1 5 NA 1 1 5.39E-17 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 19939507 G C NAV2 CCDS7851.2 r.? - - intronic 37 0 0 46 6 13 52 10 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.632901354 0.632901354 1 1.047233853 1.047233853 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 1.28E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 20003870 G A NAV2 CCDS7851.2 r.? - - intronic 23 0 0 39 8 20.5 53 12 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.99803675 0.99803675 1 1.232681514 1.232681514 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 5.39E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 20025361 C A NAV2 CCDS7851.2 r.? - - intronic 26 0 0 51 7 13.7 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.666980658 0.666980658 1 1.129048998 1.129048998 1 NA NA 1 NA NA 1 5 NA 1 1 7.46E-09 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 20308394 C A - - - - - - 33 0 0 54 10 18.5 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.900667311 0.900667311 1 1.069051225 1.069051225 1 NA NA 1 NA NA 1 5 NA 1 1 1.91E-13 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 20352208 C G - - - - - - 28 0 0 54 6 11.1 53 0 0 213 0 0 235 24 10.2 251 0 0 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.540400387 0.540400387 1 0 0 1 0.496584139 0.496584139 1 0 0 1 3 3 1 1 0.000000329 8.31E-24 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9776b 11 20355491 G C - - - - - - 31 0 0 49 5 10.2 53 7 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.496584139 0.496584139 1 0.719973274 0.719973274 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000496 1 9.85E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 20408065 T C PRMT3 CCDS7853.1 r.? - - upstream 28 0 0 40 8 20 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 0.665429844 0.665429844 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 20853281 A C NELL1 CCDS7855.1 r.? - - intronic 31 0 0 46 11 23.9 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.163564797 1.163564797 1 0.698155902 0.698155902 1 NA NA 1 NA NA 1 5 NA 1 1 5.55E-16 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 20866547 G C NELL1 CCDS7855.1 r.? - - intronic 29 0 0 52 10 19.2 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.934746615 0.934746615 1 0.954510022 0.954510022 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-13 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 20886089 G T NELL1 CCDS7855.1 r.? - - intronic 43 0 0 41 5 12.2 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.593953578 0.593953578 1 1.161775056 1.161775056 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000202 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 21002364 G C NELL1 CCDS7855.1 r.? - - intronic 30 0 0 58 12 20.7 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.007773694 1.007773694 1 1.396311804 1.396311804 1 NA NA 1 NA NA 1 5 NA 1 1 1.76E-16 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 21026902 G A NELL1 CCDS7855.1 r.? - - intronic 46 0 0 42 10 23.8 54 12 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.158696325 1.158696325 1 1.210864143 1.210864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 6.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 21083465 C G NELL1 CCDS7855.1 r.? - - intronic 36 0 0 56 24 42.9 33 16 48.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.088574468 1.044287234 2 2.645356347 1.322678174 2 NA NA 1 NA NA 1 5 NA 1 1 2.23E-40 1 1.64E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 21158397 G T NELL1 CCDS7855.1 r.? - - intronic 34 0 0 52 9 17.3 51 5 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.842245648 0.842245648 1 0.534525612 0.534525612 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-12 1 0.00000606 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 21222667 T C NELL1 CCDS7855.1 r.? - - intronic 37 0 0 43 7 16.3 51 8 15.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.793560928 0.793560928 1 0.856331849 0.856331849 1 NA NA 1 NA NA 1 5 NA 1 1 2.15E-09 1 2.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 21240782 G T NELL1 CCDS7855.1 r.? - - intronic 26 0 0 56 8 14.3 54 13 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 1.314496659 1.314496659 1 NA NA 1 NA NA 1 5 NA 1 1 4.48E-10 1 1.12E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 21293217 G T NELL1 CCDS7855.1 r.? - - intronic 35 0 0 47 9 19.1 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.929878143 0.929878143 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-12 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 21513603 A C NELL1 CCDS7855.1 r.? - - intronic 32 0 0 53 8 15.1 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.735139265 0.735139265 1 1.396311804 1.396311804 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-10 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 21856962 C A - - - - - - 34 0 0 38 10 26.3 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.280408124 1.280408124 1 1.249044543 1.249044543 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 21856963 C A - - - - - - 34 0 0 39 10 25.6 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.24632882 1.24632882 1 1.249044543 1.249044543 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 21873449 A C - - - - - - 23 0 0 43 10 23.3 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.134353965 1.134353965 1 0.861786192 0.861786192 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 21902397 T A - - - - - - 29 0 0 48 9 18.8 22 2 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.915272727 0.915272727 1 0.496345212 0.496345212 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 22026345 C A - - - - - - 38 0 0 47 10 21.3 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.036984526 1.036984526 1 1.15086637 1.15086637 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 22133324 G C - - - - - - 35 0 0 55 14 25.5 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.241460348 1.241460348 1 0.719973274 0.719973274 1 NA NA 1 NA NA 1 5 NA 1 1 2.19E-20 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 22284506 C T ANO5 CCDS31444.1 r.2132c>u c.1815C>T p.G605G silent 29 0 0 48 6 12.5 43 10 23.3 143 0 0 101 17 16.8 356 9 2.5 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.608558994 0.608558994 1 1.270861915 1.270861915 1 0.817903288 0.817903288 1 0.136358575 0.136358575 1 5 5 1 1 0.00000016 4.1E-21 1.61E-14 0.0000946 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 11 22334796 G C - - - - - - 29 0 0 29 6 20.7 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.007773694 1.007773694 1 0.779971047 0.779971047 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 22529286 G T - - - - - - 33 0 0 36 14 38.9 42 17 40.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.89383559 0.946917795 2 2.209008909 1.104504454 2 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 1.73E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 22529662 T A - - - - - - 41 0 0 48 13 27.1 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.319355899 1.319355899 1 0.959964365 0.959964365 1 NA NA 1 NA NA 1 5 NA 1 1 2E-19 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 22552891 G T - - - - - - 39 0 0 52 14 26.9 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.309618956 1.309618956 1 1.259953229 1.259953229 1 NA NA 1 NA NA 1 5 NA 1 1 9.04E-21 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 22567589 C G - - - - - - 53 0 0 53 8 15.1 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.735139265 0.735139265 1 1.036325167 1.036325167 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-10 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 22896640 A G AC090639.1 ENST00000499625 r.? - - intronic 51 0 0 43 8 18.6 48 7 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.905535783 0.905535783 1 0.796334076 0.796334076 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 22950069 T A AC090639.1 ENST00000499625 r.? - - intronic 30 0 0 38 11 28.9 54 10 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.406988395 1.406988395 1 1.009053452 1.009053452 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 1.91E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 23143392 C G - - - - - - 31 0 0 47 9 19.1 47 7 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.929878143 0.929878143 1 0.812697105 0.812697105 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-12 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 23309797 C A - - - - - - 37 0 0 46 11 23.9 52 7 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.163564797 1.163564797 1 0.736336303 0.736336303 1 NA NA 1 NA NA 1 5 NA 1 1 5.55E-16 1 8.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 23477247 C A - - - - - - 27 0 0 48 11 22.9 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.114880077 1.114880077 1 1.069051225 1.069051225 1 NA NA 1 NA NA 1 5 NA 1 1 9.31E-16 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 23616737 G T - - - - - - 33 0 0 50 12 24 47 16 34 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.168433269 1.168433269 1 1.854476615 0.927238307 2 NA NA 1 NA NA 1 5 NA 1 1 2.49E-17 1 1.98E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 23854855 C A - - - - - - 40 0 0 51 16 31.4 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.528700193 0.764350097 2 0.850877506 0.850877506 1 NA NA 1 NA NA 1 5 NA 1 1 9.28E-25 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 24059737 C T - - - - - - 35 0 0 53 21 39.6 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.927914894 0.963957447 2 1.15086637 1.15086637 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-34 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 24062676 G T - - - - - - 31 0 0 43 8 18.6 37 4 10.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.905535783 0.905535783 1 0.589069042 0.589069042 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 24119113 C T - - - - - - 41 0 0 43 10 23.3 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.134353965 1.134353965 1 1.281770601 1.281770601 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 24204173 C A ENSG00000228428 ENST00000431349 r.? - - intronic 35 0 0 43 8 18.6 57 12 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.905535783 0.905535783 1 1.15086637 1.15086637 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 1.4E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 24563944 C A LUZP2 CCDS31446.1 r.? - - intronic 38 0 0 39 9 23.1 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.124617021 1.124617021 1 0.736336303 0.736336303 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 24866416 G A LUZP2 CCDS31446.1 r.? - - intronic 46 0 0 56 11 19.6 38 3 7.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 0.430893096 0.430893096 1 NA NA 1 NA NA 1 5 NA 1 1 5.91E-15 1 0.000925091 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 24925631 C T LUZP2 CCDS31446.1 r.? - - intronic 31 0 0 47 10 21.3 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.036984526 1.036984526 1 0.883603563 0.883603563 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 25193826 T A - - - - - - 39 0 0 36 7 19.4 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.944483559 0.944483559 1 0.763608018 0.763608018 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 25468186 C A - - - - - - 40 1 2.5 46 10 21.7 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.056458414 1.056458414 1 1.030870824 1.030870824 1 NA NA 1 NA NA 1 5 NA 0.181679879 1 3.38E-14 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 25494655 T C - - - - - - 41 0 0 53 13 24.5 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.192775629 1.192775629 1 0.872694878 0.872694878 1 NA NA 1 NA NA 1 5 NA 1 1 8.53E-19 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 25629497 G A - - - - - - 38 0 0 53 6 11.3 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.550137331 0.550137331 1 1.576305122 1.576305122 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000293 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 26208697 A C - - - - - - 41 0 0 63 13 20.6 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.002905222 1.002905222 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 5 NA 1 1 1.01E-17 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 26290198 G A - - - - - - 29 0 0 61 15 24.6 28 2 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.197644101 1.197644101 1 0.387258352 0.387258352 1 NA NA 1 NA NA 1 5 NA 1 1 1.73E-21 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 26338189 T A - - - - - - 37 0 0 53 14 26.4 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.285276596 1.285276596 1 0.927238307 0.927238307 1 NA NA 1 NA NA 1 5 NA 1 1 1.22E-20 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 26520145 A T ANO3 CCDS31447.1 r.? - - intronic 34 0 0 41 10 24.4 45 12 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.187907157 1.187907157 1 1.456309577 1.456309577 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 6.03E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 26668098 G A ANO3 CCDS31447.1 r.? - - intronic 37 0 0 50 11 22 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.07106383 1.07106383 1 0.741790646 0.741790646 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 27093152 G T BBOX1 CCDS7862.1 r.? - - intronic 37 0 0 58 14 24.1 51 12 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.173301741 1.173301741 1 1.281770601 1.281770601 1 NA NA 1 NA NA 1 5 NA 1 1 5.04E-20 1 3.24E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 27462375 A G LGR4 CCDS31449.1 r.? - - intronic 32 0 0 39 12 30.8 39 14 35.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.499489362 1.499489362 1 1.958109131 0.979054566 2 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 27855412 T A - - - - - - 34 0 0 57 11 19.3 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.939615087 0.939615087 1 0.949055679 0.949055679 1 NA NA 1 NA NA 1 5 NA 1 1 7.29E-15 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 27905667 A T - - - - - - 39 0 0 56 9 16.1 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.783823985 0.783823985 1 0.850877506 0.850877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-11 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 27967920 G A - - - - - - 34 0 0 44 11 25 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 0.927238307 0.927238307 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 28082241 A C KIF18A CCDS7867.1 r.? - - intronic 33 0 0 37 5 13.5 42 5 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.657243714 0.657243714 1 0.649066815 0.649066815 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000119 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 28542463 G A - - - - - - 28 0 0 42 7 16.7 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.813034816 0.813034816 1 0.889057906 0.889057906 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 28833074 G T - - - - - - 30 0 0 47 8 17 49 10 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.827640232 0.827640232 1 1.112685969 1.112685969 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-10 1 6.72E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 29029242 T A - - - - - - 42 0 0 35 4 11.4 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.555005803 0.555005803 1 1.259953229 1.259953229 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000289 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 29038153 A G - - - - - - 29 0 0 42 5 11.9 40 15 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.579348162 0.579348162 1 2.045378619 1.02268931 2 NA NA 1 NA NA 1 5 NA 1 1 0.00000228 1 1.09E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 29099942 G C - - - - - - 37 0 0 54 7 13 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.632901354 0.632901354 1 0.976327394 0.976327394 1 NA NA 1 NA NA 1 5 NA 1 1 1.13E-08 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 29123241 A T - - - - - - 59 0 0 60 13 21.7 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.056458414 1.056458414 1 0.992690423 0.992690423 1 NA NA 1 NA NA 1 5 NA 1 1 5.07E-18 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 29207867 T G - - - - - - 43 0 0 52 8 15.4 41 2 4.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.749744681 0.749744681 1 0.267262806 0.267262806 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-10 1 0.018015855 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 29253964 G A - - - - - - 45 0 0 42 10 23.8 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.158696325 1.158696325 1 0.970873051 0.970873051 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 29534342 G T - - - - - - 32 0 0 47 13 27.7 50 14 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.348566731 1.348566731 1 1.527216036 1.527216036 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-19 1 4.84E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 29713371 A C - - - - - - 33 0 0 40 12 30 51 8 15.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.460541586 1.460541586 1 0.856331849 0.856331849 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 2.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 29971673 C T - - - - - - 30 0 0 44 14 31.8 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.548174081 0.774087041 2 0.763608018 0.763608018 1 NA NA 1 NA NA 1 5 NA 1 1 6.1E-22 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 29986963 C T - - - - - - 24 0 0 41 19 46.3 36 17 47.2 1 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.254102515 1.127051257 2 2.574449889 1.287224944 2 NA NA 1 NA NA 1 5 NA 1 1 4.2E-33 1 6E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 30008920 A C - - - - - - 35 0 0 50 13 26 57 11 19.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.265802708 1.265802708 1 1.052688196 1.052688196 1 NA NA 1 NA NA 1 5 NA 1 1 3.65E-19 1 7.29E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 30033740 G A KCNA4 CCDS41629.1 r.1638c>u c.486C>T p.G162G silent 26 0 0 60 9 15 51 8 15.7 308 0 0 241 46 19.1 236 13 5.5 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.730270793 0.730270793 1 0.856331849 0.856331849 1 0.929878143 0.929878143 1 0.299988864 0.299988864 1 5 5 1 1 2.29E-11 3.75E-57 2.05E-10 3.5E-10 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 11 30177593 T A - - - - - - 47 0 0 47 10 21.3 51 9 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.036984526 1.036984526 1 0.959964365 0.959964365 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 30328899 C T - - - - - - 42 0 0 61 18 29.5 52 12 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.436199226 1.436199226 1 1.259953229 1.259953229 1 NA NA 1 NA NA 1 5 NA 1 1 4.08E-27 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 30489084 G T MPPED2 CCDS44560.1 r.? - - intronic 37 0 0 43 5 11.6 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.564742747 0.564742747 1 0.970873051 0.970873051 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000257 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 30509782 G T MPPED2 CCDS44560.1 r.? - - intronic 31 0 0 50 7 14 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.681586074 0.681586074 1 1.167229399 1.167229399 1 NA NA 1 NA NA 1 5 NA 1 1 6.46E-09 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 30668030 T A - - - - - - 38 0 0 50 13 26 58 12 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.265802708 1.265802708 1 1.129048998 1.129048998 1 NA NA 1 NA NA 1 5 NA 1 1 3.65E-19 1 1.76E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 30694557 A C - - - - - - 29 0 0 66 13 19.7 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.959088975 0.959088975 1 0.605432071 0.605432071 1 NA NA 1 NA NA 1 5 NA 1 1 1.95E-17 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 30773644 C A - - - - - - 34 0 0 47 11 23.4 54 9 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.139222437 1.139222437 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 7.21E-16 1 8.48E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 30819527 C A - - - - - - 39 0 0 58 14 24.1 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.173301741 1.173301741 1 0.796334076 0.796334076 1 NA NA 1 NA NA 1 5 NA 1 1 5.04E-20 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 30933687 A G DCDC5 ENST00000406071 r.? - - intronic 25 0 0 38 6 15.8 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.769218569 0.769218569 1 1.521761693 1.521761693 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 31026093 G T ENSG00000226746 ENST00000399333 r.? - - intronic 21 0 0 54 11 20.4 36 2 5.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.993168279 0.993168279 1 0.305443207 0.305443207 1 NA NA 1 NA NA 1 5 NA 1 1 3.84E-15 1 0.014070883 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 31052262 G T ENSG00000226746 ENST00000399333 r.? - - intronic 25 0 0 52 13 25 59 11 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.014507795 1.014507795 1 NA NA 1 NA NA 1 5 NA 1 1 6.47E-19 1 1.1E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 31203042 T A ENSG00000226746 ENST00000399333 r.? - - intronic 33 0 0 56 14 25 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 0.976327394 0.976327394 1 NA NA 1 NA NA 1 5 NA 1 1 2.91E-20 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 31244941 G T - - - - - - 41 0 0 57 11 19.3 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.939615087 0.939615087 1 1.46176392 1.46176392 1 NA NA 1 NA NA 1 5 NA 1 1 7.29E-15 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 31721775 A T ELP4 CCDS7875.2 r.? - - intronic 33 0 0 44 15 34.1 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.660148936 0.830074468 2 1.134503341 1.134503341 1 NA NA 1 NA NA 1 5 NA 1 1 6.12E-24 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 31738249 G C ELP4 CCDS7875.2 r.? - - intronic 39 0 0 37 7 18.9 47 6 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.920141199 0.920141199 1 0.698155902 0.698155902 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 31754560 A T ELP4 CCDS7875.2 r.? - - intronic 25 0 0 35 13 37.1 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.806203095 0.903101547 2 0.959964365 0.959964365 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 31781350 G T ELP4 CCDS7875.2 r.? - - intronic 35 0 0 53 17 32.1 46 17 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.562779497 0.781389749 2 2.018106904 1.009053452 2 NA NA 1 NA NA 1 5 NA 1 1 2.08E-26 1 1.16E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 32076584 G T - - - - - - 37 0 0 48 26 54.2 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.638711799 1.319355899 2 1.15086637 1.15086637 1 NA NA 1 NA NA 1 5 NA 1 1 3.67E-47 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 32114599 C T RCN1 CCDS7876.1 r.? - - intronic 28 0 0 49 10 20.4 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.993168279 0.993168279 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-14 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 32163386 G C - - - - - - 37 0 0 57 9 15.8 58 5 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.769218569 0.769218569 1 0.469073497 0.469073497 1 NA NA 1 NA NA 1 5 NA 1 1 1.42E-11 1 0.0000115 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 32209076 T G - - - - - - 32 0 0 55 18 32.7 28 14 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.591990329 0.795995164 2 2.727171492 1.363585746 2 NA NA 1 NA NA 1 5 NA 1 1 4.61E-28 1 2.29E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 32229699 C A - - - - - - 37 0 0 38 14 36.8 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.791597679 0.895798839 2 0.741790646 0.741790646 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 32309182 A T - - - - - - 34 0 0 52 12 23.1 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.124617021 1.124617021 1 1.161775056 1.161775056 1 NA NA 1 NA NA 1 5 NA 1 1 4.19E-17 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 32426994 T G WT1 CCDS7878.2 r.? - - intronic 32 0 0 41 18 43.9 33 13 39.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.137259188 1.068629594 2 2.149011136 1.074505568 2 NA NA 1 NA NA 1 5 NA 1 1 6.91E-31 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 32523087 C G - - - - - - 32 0 0 49 6 12.2 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.593953578 0.593953578 1 1.036325167 1.036325167 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000182 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 32592823 G A - - - - - - 20 0 0 44 13 29.5 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.436199226 1.436199226 1 1.559942094 1.559942094 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 33719654 C T CD59 CCDS7886.1 r.? - - downstream 29 0 0 43 6 14 60 13 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.541586074 0.541586074 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 5 NA 1 1 8.13E-08 1 5.07E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 33856642 C G - - - - - - 34 0 0 42 15 35.7 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.381044487 1.381044487 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 34434779 G A - - - - - - 27 0 0 36 7 19.4 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 34621180 T G - - - - - - 29 0 0 46 11 23.9 42 5 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.924564797 0.924564797 1 0.530066815 0.530066815 1 NA NA 1 NA NA 1 5 NA 1 1 5.55E-16 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 35556820 A C - - - - - - 35 0 0 32 9 28.1 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 35702034 C G TRIM44 CCDS31461.1 r.? - - intronic 32 0 0 28 10 35.7 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.381044487 1.381044487 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 36045961 G C LDLRAD3 CCDS31462.1 r.? - - intronic 25 0 0 41 13 31.7 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 36146410 T A LDLRAD3 CCDS31462.1 r.? - - intronic 33 0 0 24 7 29.2 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.12959381 1.12959381 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 36240004 T C LDLRAD3 CCDS31462.1 r.? - - intronic 32 0 0 41 12 29.3 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 36762694 G T - - - - - - 38 0 0 54 13 24.1 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.932301741 0.932301741 1 1.167037862 1.167037862 1 NA NA 1 NA NA 1 5 NA 1 1 1.12E-18 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 36913135 T A - - - - - - 40 0 0 42 7 16.7 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 37033128 T A - - - - - - 23 0 0 26 11 42.3 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.636363636 1.636363636 1 0.712694878 0.712694878 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 38080357 C T - - - - - - 31 0 0 34 10 29.4 52 12 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 38721681 G C - - - - - - 41 0 0 34 9 26.5 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 38752804 C A - - - - - - 32 0 0 37 9 24.3 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 38753263 C A - - - - - - 24 0 0 42 13 31 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 2.72E-20 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 38832933 C T - - - - - - 33 0 0 23 7 30.4 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.176015474 1.176015474 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-11 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 38975890 A G - - - - - - 38 0 0 42 16 38.1 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.473887814 1.473887814 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 2.25E-26 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 39124687 C T - - - - - - 37 0 0 38 11 28.9 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.167037862 1.167037862 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 39162888 T C - - - - - - 38 0 0 34 9 26.5 38 9 23.7 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 1.055679287 1.055679287 1 NA NA 1 0 0 1 5 NA 1 1 9.15E-14 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 39274020 G A - - - - - - 37 0 0 43 13 30.2 46 13 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.16827853 1.16827853 1 1.260579065 1.260579065 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-20 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 39375388 G T - - - - - - 28 0 0 32 12 37.5 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 39635961 T G - - - - - - 43 0 0 25 4 16 35 3 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.618955513 0.618955513 1 0.383073497 0.383073497 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000727 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 39651404 T G - - - - - - 33 1 3 43 16 37.2 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.439071567 1.439071567 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 0.15245715 1 3.56E-26 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 39754571 A T - - - - - - 32 0 0 36 8 22.2 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 39822417 A T - - - - - - 33 0 0 36 6 16.7 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 39822418 T G - - - - - - 33 0 0 36 6 16.7 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 39943499 C A - - - - - - 26 0 0 47 6 12.8 51 1 2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.49516441 0.49516441 1 0.08908686 0.08908686 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000141 1 0.225579006 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 40161330 G T LRRC4C CCDS31464.1 r.? - - intronic 33 0 0 37 15 40.5 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.566731141 1.566731141 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 2.58E-25 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 40516358 G A - - - - - - 55 0 0 44 13 29.5 37 4 10.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 0.481069042 0.481069042 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 40639850 C A - - - - - - 28 0 0 35 12 34.3 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.32688588 1.32688588 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 40668903 T A - - - - - - 49 0 0 53 14 26.4 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.021276596 1.021276596 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 5 NA 1 1 1.22E-20 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 40777734 G T - - - - - - 37 0 0 40 11 27.5 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 41640768 C T - - - - - - 26 0 0 31 11 35.5 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.373307544 1.373307544 1 1.407572383 1.407572383 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 41660464 G A - - - - - - 31 0 0 39 8 20.5 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 41922709 G C - - - - - - 37 0 0 36 10 27.8 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 41966455 G T - - - - - - 46 0 0 39 9 23.1 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 42200097 A T - - - - - - 24 0 0 44 10 22.7 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 42230516 C T - - - - - - 39 0 0 39 8 20.5 34 4 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.525612472 0.525612472 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 42292278 A T - - - - - - 31 0 0 24 6 25 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 1.95E-09 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 42607766 C A - - - - - - 31 0 0 32 7 21.9 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.847195358 0.847195358 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 42712117 C G - - - - - - 36 0 0 35 15 42.9 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.659574468 1.659574468 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 9.02E-26 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 42768763 A G - - - - - - 38 0 0 43 10 23.3 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 42870309 A C - - - - - - 30 0 0 46 11 23.9 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.924564797 0.924564797 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 5.55E-16 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 43091364 A T - - - - - - 36 0 0 33 8 24.2 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 43119942 T A - - - - - - 39 0 0 51 19 37.3 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.442940039 1.442940039 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 7.94E-31 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 43124478 G T - - - - - - 36 0 0 39 9 23.1 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 43200543 T A - - - - - - 28 0 0 46 18 39.1 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.512572534 1.512572534 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 9.41E-30 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 43335554 G A API5 CCDS44572.1 r.? - - intronic 28 0 0 35 13 37.1 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.435203095 1.435203095 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 43587561 C T - - - - - - 32 0 0 46 8 17.4 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.67311412 0.67311412 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-11 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 43619063 G T - - - - - - 17 0 0 40 8 20 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 43620029 A T - - - - - - 31 0 0 33 10 30.3 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 43669811 A T - - - - - - 35 0 0 48 7 14.6 38 0 0 65 0 0 24 0 0 39 1 2.6 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.564796905 0.564796905 1 0 0 1 0 0 1 0.115812918 0.115812918 1 3 2 1 1 4.81E-09 1 1 0.177567718 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 43694284 T G - - - - - - 31 0 0 38 4 10.5 34 2 5.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.406189555 0.406189555 1 0.262806236 0.262806236 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000403 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 44463192 T C - - - - - - 40 0 0 50 13 26 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.005802708 1.005802708 1 0.757238307 0.757238307 1 NA NA 1 NA NA 1 5 NA 1 1 3.65E-19 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 44498872 T A - - - - - - 29 0 0 42 9 21.4 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 44901158 C T TSPAN18 CCDS7910.1 r.? - - intronic 23 0 0 38 12 31.6 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 45173403 G A PRDM11 CCDS7912.1 r.? - - intronic 29 0 0 38 11 28.9 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 45254710 G C - - - - - - 39 0 0 34 7 20.6 24 8 33.3 0 0 NA 2 2 100 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 1.483296214 1.483296214 1 3.868471954 3.868471954 1 NA NA 1 5 NA 1 1 3.73E-10 0.000025 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 45338841 T A - - - - - - 23 0 0 52 14 26.9 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.040618956 1.040618956 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 9.04E-21 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 45465933 G C - - - - - - 28 0 0 41 11 26.8 27 2 7.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0.329621381 0.329621381 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 45527777 T A - - - - - - 34 0 0 41 16 39 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.508704062 1.508704062 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.4E-26 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 45598085 T A - - - - - - 24 0 0 33 9 27.3 27 7 25.9 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.153674833 1.153674833 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 45883439 G A CRY2 CCDS7915.2 r.? - - intronic 33 0 0 40 15 37.5 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-24 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 46528471 T G AMBRA1 CCDS31475.1 r.? - - intronic 27 0 0 42 17 40.5 44 10 22.7 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.566731141 1.566731141 1 1.011135857 1.011135857 1 0 0 1 NA NA 1 5 NA 1 1 1.73E-28 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 46542962 G A AMBRA1 CCDS31475.1 r.? - - intronic 24 0 0 39 14 35.9 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.388781431 1.388781431 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 46542979 T A AMBRA1 CCDS31475.1 r.? - - intronic 26 0 0 43 14 32.6 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 46870933 C A CKAP5 CCDS31477.1 r.? - - upstream 22 0 0 45 7 15.6 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000003 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 47959525 C T - - - - - - 21 0 0 27 9 33.3 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 48215202 C T - - - - - - 31 0 0 47 8 17 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.657640232 0.657640232 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-10 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 48298660 C G - - - - - - 47 0 0 27 8 29.6 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.145067698 1.145067698 1 1.305122494 1.305122494 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 48373230 T G OR4C45 ENST00000415304 r.? - - intronic 33 0 0 32 7 21.9 20 3 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.847195358 0.847195358 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 48609694 T A - - - - - - 40 0 0 38 9 23.7 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 48923464 G T - - - - - - 21 0 0 23 7 30.4 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.176015474 1.176015474 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-11 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 49069192 G T - - - - - - 39 0 0 38 9 23.7 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 0.828507795 0.828507795 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 49625890 C A ENSG00000205035 ENST00000357667 r.? - - intronic 34 0 0 46 10 21.7 39 14 35.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.839458414 0.839458414 1 1.599109131 1.599109131 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-14 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 49664540 C A ENSG00000205035 ENST00000357667 r.? - - intronic 43 0 0 57 15 26.3 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 5.53E-22 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 49672894 T C ENSG00000205035 ENST00000357667 r.? - - intronic 35 0 0 53 8 15.1 33 13 39.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.584139265 0.584139265 1 1.755011136 1.755011136 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-10 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 49704598 G A ENSG00000205035 ENST00000357667 r.? - - intronic 38 0 0 43 7 16.3 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.630560928 0.630560928 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 2.15E-09 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 49819972 C T ENSG00000205035 ENST00000357667 r.? - - intronic 30 0 0 36 12 33.3 5 1 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 0.024751247 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 50032293 T C - - - - - - 34 0 0 35 8 22.9 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 50048698 T A - - - - - - 32 0 0 48 17 35.4 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.369439072 1.369439072 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 2.8E-27 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 50280663 G C - - - - - - 23 0 0 59 7 11.9 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.460348162 0.460348162 1 0.712694878 0.712694878 1 NA NA 1 NA NA 1 5 NA 1 1 2.12E-08 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 50708946 A T - - - - - - 35 0 0 35 9 25.7 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 1.425389755 1.425389755 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 51525029 G A - - - - - - 31 0 0 38 17 44.7 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.729206963 1.729206963 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.99E-29 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 55121312 G C - - - - - - 37 0 0 36 7 19.4 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 55139845 A C OR4A15 CCDS31500.1 r.? - - downstream 40 0 0 42 7 16.7 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 55210812 C A - - - - - - 39 0 0 27 4 14.8 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.572533849 0.572533849 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 0.00001 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 55302583 G A - - - - - - 28 0 0 41 7 17.1 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 55342676 A T OR4C16 CCDS31502.1 r.? - - downstream 39 0 0 41 11 26.8 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 55536770 T C OR5D13 CCDS31507.1 r.? - - upstream 39 0 0 33 15 45.5 33 3 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.760154739 1.760154739 1 0.405345212 0.405345212 1 NA NA 1 NA NA 1 5 NA 1 1 2.91E-26 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 55653986 C A SPRYD5 ENST00000413575 r.? - - intronic 32 0 0 37 10 27 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 1.398663697 1.398663697 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 55704650 C A OR5I1 CCDS7949.1 r.? - - upstream 52 0 0 41 8 19.5 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.754352031 0.754352031 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 56592946 C T - - - - - - 26 0 0 32 11 34.4 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.330754352 1.330754352 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 57084953 C G TNKS1BP1 CCDS7951.1 r.? - - intronic 37 0 0 42 7 16.7 40 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.81E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 57114737 G A P2RX3 CCDS7953.1 r.? - - intronic 23 0 0 33 9 27.3 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.527839644 1.527839644 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 57258899 C A SLC43A1 CCDS7958.1 r.? - - intronic 32 0 0 30 9 30 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 57899818 T C OR9Q1 CCDS31543.1 r.? - - intronic 50 0 0 41 10 24.4 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 57912233 A G OR9Q1 CCDS31543.1 r.? - - intronic 27 0 0 38 11 28.9 33 12 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.621380846 1.621380846 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 58152321 G T - - - - - - 38 0 0 42 9 21.4 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 58493775 C A GLYAT CCDS7970.1 r.? - - intronic 34 0 0 44 14 31.8 34 3 8.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.230174081 1.230174081 1 0.391982183 0.391982183 1 NA NA 1 NA NA 1 5 NA 1 1 6.1E-22 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 59034685 G A ENSG00000214797 ENST00000399003 r.? - - downstream 25 0 0 32 11 34.4 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.330754352 1.330754352 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 59196581 C G - - - - - - 27 0 0 40 7 17.5 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.676982592 0.676982592 1 1.425389755 1.425389755 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 59258002 C T - - - - - - 39 0 0 42 9 21.4 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 59569286 T G STX3 CCDS7975.1 r.2406u>g c.? p.? 3'UTR variant 26 0 0 43 7 16.3 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.630560928 0.630560928 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 2.15E-09 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 60005421 C T - - - - - - 32 0 0 39 10 25.6 50 7 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.623608018 0.623608018 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 6.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 60031511 G T - - - - - - 37 0 0 39 11 28.2 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 60102487 G T MS4A6E CCDS7984.1 r.184g>u c.119G>T p.R40L missense 30 0 0 49 11 22.4 37 9 24.3 216 0 0 126 22 17.5 151 25 16.6 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.866537718 0.866537718 1 1.082405345 1.082405345 1 0.676982592 0.676982592 1 0.739420935 0.739420935 1 5 6 1 1 1.19E-15 2.97E-27 2.14E-13 3.81E-30 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 11 60333909 A G - - - - - - 32 0 0 40 12 30 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 60628884 A T - - - - - - 30 0 0 41 9 22 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 60662900 C T PRPF19 CCDS7995.1 r.? - - intronic 36 0 0 33 11 33.3 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 60859903 C A - - - - - - 24 0 0 35 8 22.9 25 4 16 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.712694878 0.712694878 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 61028344 T C VWCE CCDS8002.1 r.? - - intronic 34 0 0 39 7 17.9 46 14 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 1.26E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 61225675 G C - - - - - - 33 0 0 51 12 23.5 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-17 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 61313294 C T SYT7 CCDS31577.1 r.? - - intronic 36 0 0 43 14 32.6 26 3 11.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 0.512249443 0.512249443 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 61389404 G A - - - - - - 31 0 0 29 6 20.7 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.800773694 0.800773694 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 61516535 C T C11orf9 CCDS44622.1 r.? - - upstream 35 0 0 27 8 29.6 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.145067698 1.145067698 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 61584164 C T FADS1 CCDS8011.2 r.300g>a c.238G>A p.D80N missense 30 0 0 41 12 29.3 12 4 33.3 74 0 0 85 24 28.2 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 1.483296214 1.483296214 1 1.090909091 1.090909091 1 NA NA 1 5 NA 1 1 1.69E-18 3.98E-35 0.0000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 62466535 G A BSCL2 CCDS44627.1 r.? - - intronic 26 0 0 33 9 27.3 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 62609329 C A WDR74 CCDS44630.1 r.? - - upstream 38 0 0 50 9 18 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.696324952 0.696324952 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 4.07E-12 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 62795157 G A - - - - - - 35 0 0 43 11 25.6 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 63179144 A T SLC22A9 CCDS8043.1 r.? - - downstream 45 0 0 39 10 25.6 49 9 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 63181072 C A SLC22A9 CCDS8043.1 r.? - - downstream 40 0 0 38 11 28.9 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 63193323 G T - - - - - - 34 0 0 49 14 28.6 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.287305122 1.287305122 1 NA NA 1 NA NA 1 5 NA 1 1 3.5E-21 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 64023086 C T PLCB3 CCDS8064.1 r.675c>u c.595C>T p.R199W missense 16 0 0 24 5 20.8 25 4 16 62 0 0 87 22 25.3 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 0.712694878 0.712694878 1 0.978723404 0.978723404 1 NA NA 1 5 NA 1 1 0.000000123 3.97E-31 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 64380780 T A NRXN2 CCDS8077.1 r.? - - intronic 36 0 0 40 11 27.5 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 64413103 C A NRXN2 CCDS8077.1 r.? - - intronic 23 0 0 39 8 20.5 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 64431258 A T NRXN2 CCDS8077.1 r.? - - intronic 27 0 0 39 14 35.9 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.388781431 1.388781431 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 64516771 A G PYGM CCDS8079.1 r.? - - intronic 24 0 0 40 10 25 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.621380846 1.621380846 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 64820997 G A NAALADL1 CCDS31604.1 r.1060c>u c.1044C>T p.N348N silent 23 0 0 43 9 20.9 26 5 19.2 224 1 0.4 283 71 25.1 4 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.808510638 0.808510638 1 0.855233853 0.855233853 1 0.97098646 0.97098646 1 0 0 1 5 5 1 0.674635559 9.45E-13 1.39E-96 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 64923026 A T - - - - - - 31 0 0 25 8 32 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.237911025 1.237911025 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 65168033 G T FRMD8 CCDS8102.1 r.? - - intronic 25 0 0 29 8 27.6 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 1.425389755 1.425389755 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 65266506 G A MALAT1 ENST00000508832 r.? - - upstream 30 0 0 58 11 19 49 7 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.735009671 0.735009671 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 8.96E-15 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 65714521 G T TSGA10IP ENST00000312452 r.? - - intronic 15 0 0 41 7 17.1 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 65874367 C G PACS1 CCDS8129.1 r.? - - intronic 28 0 0 42 9 21.4 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 65982391 C A PACS1 CCDS8129.1 r.? - - intronic 21 0 0 30 5 16.7 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 66000976 G T PACS1 CCDS8129.1 r.? - - intronic 25 0 0 53 15 28.3 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.094777563 1.094777563 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-22 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 66063644 C A TMEM151A CCDS8133.1 r.2071c>a c.? p.? 3'UTR variant 43 0 0 31 9 29 42 10 23.8 4 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 66181174 T G - - - - - - 26 0 0 32 7 21.9 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.847195358 0.847195358 1 1.438752784 1.438752784 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 66268299 G T BBS1 CCDS8141.1 r.? - - intronic 25 0 0 48 10 20.8 32 2 6.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 0.276169265 0.276169265 1 NA NA 1 NA NA 1 5 NA 1 1 5.37E-14 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 66288345 A G BBS1 CCDS8142.1 r.? - - intronic 24 0 0 36 7 19.4 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.714922049 1.714922049 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 66781700 G T - - - - - - 27 0 0 31 7 22.6 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 66860993 C T - - - - - - 25 0 0 33 5 15.2 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.588007737 0.588007737 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000066 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 67137274 A G CLCF1 CCDS31617.1 r.? - - intronic 33 0 0 35 7 20 49 5 10.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.454342984 0.454342984 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 0.00000496 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 67361654 C A - - - - - - 24 0 0 34 11 32.4 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 67405787 T A TBX10 CCDS31621.1 r.? - - intronic 33 0 0 40 8 20 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 67528711 C G - - - - - - 20 0 0 39 10 25.6 41 14 34.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.518930958 1.518930958 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 1.9E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 67758849 G A UNC93B1 ENST00000227471 r.2039c>u c.? p.? 3'UTR variant 46 0 0 33 12 36.4 8 4 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.408123791 1.408123791 1 2.227171492 2.227171492 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 4.31E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 67990006 A C - - - - - - 28 0 0 37 9 24.3 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 68093238 G A LRP5 CCDS8181.1 r.? - - intronic 23 0 0 45 12 26.7 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 6.03E-18 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 68459914 C G GAL CCDS8183.1 r.? - - downstream 40 0 0 39 7 17.9 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 69603229 C T - - - - - - 26 0 0 31 10 32.3 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 69920165 A T ANO1 CCDS44663.1 r.? - - upstream 33 0 0 26 5 19.2 21 3 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.742746615 0.742746615 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000188 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 69992507 T C ANO1 CCDS44663.1 r.? - - intronic 33 0 0 40 15 37.5 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-24 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 70730248 T A SHANK2 ENST00000338508 r.? - - intronic 32 0 0 34 9 26.5 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 70952210 G A SHANK2 ENST00000413503 r.? - - intronic 31 0 0 18 5 27.8 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-08 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 71264456 T A KRTAP5-10 ENST00000422553 r.? - - intronic 26 0 0 30 5 16.7 20 3 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 71488237 C G - - - - - - 28 0 0 24 7 29.2 27 11 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.12959381 1.12959381 1 1.812917595 1.812917595 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 5.92E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 72550662 G C FCHSD2 CCDS8218.2 r.? - - intronic 31 0 0 53 27 50.9 46 15 32.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 2.612374289 1.306187144 2 1.778115813 0.889057906 2 NA NA 0 NA NA 1 5 NA 1 1 6.4E-48 1 1.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 72762038 C T FCHSD2 CCDS8218.2 r.? - - intronic 30 0 0 45 8 17.8 50 10 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 0.913561146 0.913561146 1 1.090868597 1.090868597 1 NA NA 0 NA NA 1 5 NA 1 1 7.14E-11 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 73233577 T C FAM168A CCDS41689.1 r.? - - intronic 25 0 0 46 5 10.9 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 0.559427893 0.559427893 1 0.992690423 0.992690423 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000361 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 73234439 C G FAM168A CCDS41689.1 r.? - - intronic 28 0 0 37 11 29.7 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 1.524312699 1.524312699 1 0.93269265 0.93269265 1 NA NA 0 NA NA 1 5 NA 1 1 3.7E-17 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 73631302 G C PAAF1 CCDS8226.1 r.? - - intronic 28 0 0 43 12 27.9 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 1.431930111 1.431930111 1 1.090868597 1.090868597 1 NA NA 0 NA NA 1 5 NA 1 1 3.24E-18 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 73635952 C T PAAF1 CCDS8226.1 r.? - - intronic 30 0 0 51 16 31.4 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 1.611562921 0.928262995 1.736105963 1.88174833 0.940874165 2 NA NA 0 NA NA 1 5 NA 1 1 9.28E-25 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 73825931 G C C2CD3 CCDS31636.1 r.? - - intronic 25 0 0 61 14 23 34 16 47.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 1.180444178 1.180444178 1 2.568995546 1.284497773 2 NA NA 0 NA NA 1 5 NA 1 1 1.1E-19 1 3.09E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 74025515 G C P4HA3 CCDS8230.1 r.? - - upstream 41 0 0 46 5 10.9 35 1 2.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 0.559427893 0.559427893 1 0.158175947 0.158175947 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000361 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 74170160 T A KCNE3 CCDS8232.1 r.? - - intronic 26 0 0 43 6 14 35 4 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 0.718531239 0.718531239 1 0.6217951 0.6217951 1 NA NA 0 NA NA 1 5 NA 1 1 8.13E-08 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 74263145 C T - - - - - - 33 0 0 55 6 10.9 43 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 0.559427893 0.559427893 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000367 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 74263154 A G - - - - - - 37 0 0 55 6 10.9 45 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 0.559427893 0.559427893 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000367 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 74358740 G A POLD3 CCDS8233.1 r.? - - downstream 35 0 0 62 10 16.1 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 0.826310924 0.826310924 1 1.330859688 1.330859688 1 NA NA 0 NA NA 1 5 NA 1 1 8.29E-13 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 75308197 G T MAP6 CCDS31641.1 r.? - - intronic 35 0 0 46 17 37 48 20 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 1.898975416 0.949487708 2 2.274461024 1.137230512 2 NA NA 0 NA NA 1 5 NA 1 1 1.16E-27 1 1.4E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 75578228 C T UVRAG CCDS8241.1 r.? - - intronic 43 0 0 45 19 42.2 34 14 41.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 2.165858448 1.082929224 2 2.24718931 1.123594655 2 NA NA 1 NA NA 1 5 NA 1 1 4.11E-32 1 7.74E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 76155696 C G C11orf30 CCDS8244.1 r.? - - upstream 30 0 0 45 16 35.6 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 1.827122292 1.052425561 1.736105963 1.210864143 1.210864143 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-26 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 76202791 C G C11orf30 CCDS8244.1 r.? - - intronic 28 0 0 48 9 18.8 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 0.964884806 0.964884806 1 0.829060134 0.829060134 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 76273386 T A - - - - - - 35 0 0 52 6 11.5 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 0.590222089 0.590222089 1 1.036325167 1.036325167 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000261 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 76306050 T C - - - - - - 36 0 0 42 6 14.3 56 8 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 0.733928337 0.733928337 1 0.779971047 0.779971047 1 NA NA 1 NA NA 1 5 NA 1 1 7.02E-08 1 4.48E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 76445107 A G - - - - - - 14 0 0 26 7 26.9 20 7 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 1.380606451 1.380606451 1 1.909020045 1.909020045 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 5.72E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 76684439 G A ACER3 CCDS8247.1 r.? - - intronic 25 0 0 49 28 57.1 41 16 39 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 2.93058098 1.46529049 2 2.127193764 1.063596882 2 NA NA 1 NA NA 1 5 NA 1 1 1.31E-51 1 1.4E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 77116889 C A PAK1 CCDS44687.1 r.? - - intronic 34 0 0 76 26 34.2 67 15 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5.217404305 3 4 2 1 1 0.782595695 1 4 NA 2 NA 0.217404305 NA 2.42336968 0.870902548 2.782595695 1.221772829 1.221772829 1 NA NA 1 NA NA 0 5 NA 1 1 1.8E-40 1 8.27E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 77465607 C G RSF1 CCDS8253.1 r.? - - intronic 27 0 0 47 32 68.1 31 16 51.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5.217404305 3 4 2 1 1 0.782595695 1 4 NA 2 NA 0.217404305 NA 4.825481732 1.206370433 4 2.81444098 1.40722049 2 NA NA 1 NA NA 0 5 NA 1 1 1.63E-62 1 4.27E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 78081613 G A GAB2 CCDS8259.1 r.? - - intronic 24 0 0 54 17 31.5 48 9 18.8 0 0 NA 2 0 0 0 0 NA FALSE FALSE NA 3 NA 2 NA 1 NA 1 NA NA NA NA NA NA NA NA 1 1.025416481 1.025416481 1 NA NA 1 NA NA 1 NA NA 1 1 3.02E-26 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 78428953 T C ODZ4 CCDS44688.1 r.? - - intronic 29 0 0 64 12 18.8 48 7 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.940840515 0.940840515 1 0.796334076 0.796334076 1 NA NA 1 NA NA 1 5 NA 1 1 6.3E-16 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 78590881 C A ODZ4 CCDS44688.1 r.? - - intronic 20 0 0 35 15 42.9 30 12 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 2.146917983 1.073458992 2 2.181737194 1.090868597 2 NA NA 1 NA NA 1 5 NA 1 1 9.02E-26 1 1.94E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 78897673 A T ODZ4 CCDS44688.1 r.? - - intronic 26 1 3.8 37 10 27 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.351207122 1.351207122 1 0.725427617 0.725427617 1 NA NA 1 NA NA 1 5 NA 0.122190858 1 3.01E-15 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 78933526 C A ODZ4 CCDS44688.1 r.? - - intronic 34 0 0 44 17 38.6 35 16 45.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.931725738 0.965862869 2 2.492634744 1.246317372 2 NA NA 1 NA NA 1 5 NA 1 1 4.61E-28 1 5.66E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 79008817 C A ODZ4 CCDS44688.1 r.? - - intronic 29 0 0 30 6 20 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.000894165 1.000894165 1 1.199955457 1.199955457 1 NA NA 1 NA NA 1 5 NA 1 1 8.37E-09 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 79043532 T A ODZ4 CCDS44688.1 r.? - - intronic 26 0 0 35 8 22.9 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.146023819 1.146023819 1 1.505398664 1.505398664 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 79093052 T A ODZ4 CCDS44688.1 r.? - - intronic 39 0 0 55 6 10.9 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.54548732 0.54548732 1 0.758153675 0.758153675 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000367 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 79297551 C A - - - - - - 31 0 0 42 15 35.7 52 14 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.786596084 0.958473713 1.86400113 1.467218263 1.467218263 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 9.04E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 79411685 C T - - - - - - 34 0 0 45 10 22.2 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.110992523 1.110992523 1 1.325405345 1.325405345 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 79424435 T A - - - - - - 39 0 0 39 11 28.2 42 16 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.411260772 1.411260772 1 2.078104677 1.039052339 2 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 2.25E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 79494580 C A - - - - - - 37 0 0 36 17 47.2 36 17 47.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 2.362110229 1.181055114 2 2.574449889 1.287224944 2 NA NA 1 NA NA 1 5 NA 1 1 6E-30 1 6E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 79660330 G T - - - - - - 34 0 0 62 31 50 42 16 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 2.502235412 1.251117706 2 2.078104677 1.039052339 2 NA NA 1 NA NA 1 5 NA 1 1 1.86E-54 1 2.25E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 79850634 A T - - - - - - 24 0 0 41 9 22 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.100983581 1.100983581 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 80093195 A C - - - - - - 37 0 0 49 9 18.4 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.920822632 0.920822632 1 0.818151448 0.818151448 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-12 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 80466975 G A - - - - - - 31 0 0 56 18 32.1 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.606435134 0.861820902 1.86400113 0.725427617 0.725427617 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-28 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 80488901 T A - - - - - - 33 0 0 46 14 30.4 48 12 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.52135913 1.52135913 1 1.363585746 1.363585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-21 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 80660083 T C - - - - - - 31 0 0 52 15 28.8 36 14 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.441287597 1.441287597 1 2.121739421 1.06086971 2 NA NA 1 NA NA 1 5 NA 1 1 1.15E-22 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 80742620 A T - - - - - - 33 0 0 50 8 16 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.800715332 0.800715332 1 1.156320713 1.156320713 1 NA NA 1 NA NA 1 5 NA 1 1 1.74E-10 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 81183491 T C - - - - - - 30 0 0 41 6 14.6 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.73065274 0.73065274 1 0.976327394 0.976327394 1 NA NA 1 NA NA 1 5 NA 1 1 6.05E-08 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 81569730 A T - - - - - - 35 0 0 44 12 27.3 58 25 43.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.366220535 1.366220535 1 2.350821826 1.175410913 2 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 4.44E-42 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 81595049 A C AP002802.1 ENST00000500502 r.? - - intronic 48 0 0 48 18 37.5 46 16 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.876676559 1.006800119 1.86400113 1.898111359 0.949055679 2 NA NA 1 NA NA 1 5 NA 1 1 2.42E-29 1 1.31E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 81665832 T G AP002802.1 ENST00000500502 r.? - - intronic 30 0 0 45 18 40 50 20 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 2.00178833 1.000894165 2 2.181737194 1.090868597 2 NA NA 1 NA NA 1 5 NA 1 1 5.76E-30 1 3.9E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 81665834 A G AP002802.1 ENST00000500502 r.? - - intronic 30 0 0 46 18 39.1 51 21 41.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.956748092 0.978374046 2 2.24718931 1.123594655 2 NA NA 1 NA NA 1 5 NA 1 1 9.41E-30 1 4.73E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 81676516 C G AP002802.1 ENST00000500502 r.? - - intronic 48 0 0 51 8 15.7 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.785701919 0.785701919 1 1.396311804 1.396311804 1 NA NA 1 NA NA 1 5 NA 1 1 2.05E-10 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 81859179 G A AP002802.1 ENST00000500502 r.? - - intronic 17 0 0 21 13 61.9 12 7 58.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 3.09776744 1.54888372 2 3.17988196 1.58994098 2 NA NA 1 NA NA 1 5 NA 1 1 2.39E-25 1 6.05E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 82035741 A T AP002802.1 ENST00000500502 r.? - - intronic 34 0 0 48 8 16.7 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.835746628 0.835746628 1 1.036325167 1.036325167 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-10 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 82059685 C T AP002802.1 ENST00000500502 r.? - - intronic 31 0 0 47 12 25.5 49 10 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.27614006 1.27614006 1 1.112685969 1.112685969 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 6.72E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 82060860 G T AP002802.1 ENST00000500502 r.? - - intronic 37 0 0 52 21 40.4 54 19 35.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 2.021806213 1.010903106 2 1.919928731 0.959964365 2 NA NA 1 NA NA 1 5 NA 1 1 7.89E-35 1 2.97E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 82180928 A G - - - - - - 32 0 0 66 21 31.8 62 18 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.591421722 0.853766501 1.86400113 1.581759465 0.790879733 2 NA NA 1 NA NA 1 5 NA 1 1 3.42E-32 1 5.72E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 82217025 G T - - - - - - 39 0 0 76 23 30.3 70 25 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.51635466 0.813494496 1.86400113 1.947200445 0.973600223 2 NA NA 1 NA NA 1 5 NA 1 1 1.58E-34 1 1.55E-39 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 82985301 T G CCDC90B CCDS8266.1 r.? - - intronic 38 0 0 71 16 22.5 59 17 28.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.126005935 1.126005935 1 1.57085078 0.78542539 2 NA NA 1 NA NA 1 5 NA 1 1 3.77E-22 1 1.74E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 83075017 T G - - - - - - 44 0 0 55 7 12.7 62 9 14.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.635567795 0.635567795 1 0.790879733 0.790879733 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-08 1 3.12E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 83096521 C G - - - - - - 30 0 0 59 17 28.8 63 11 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.441287597 1.441287597 1 0.954510022 0.954510022 1 NA NA 1 NA NA 1 5 NA 1 1 1.74E-25 1 2.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 83272479 A G DLG2 CCDS41696.1 r.? - - intronic 28 0 0 55 8 14.5 62 13 21 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.725648269 0.725648269 1 1.145412027 1.145412027 1 NA NA 1 NA NA 1 5 NA 1 1 3.86E-10 1 8.08E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 83823631 T A DLG2 CCDS41696.1 r.? - - intronic 31 0 0 62 28 45.2 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 2.262020812 1.131010406 2 1.679937639 0.83996882 2 NA NA 1 NA NA 1 5 NA 1 1 1.1E-47 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 83871788 T C DLG2 CCDS41696.1 r.? - - intronic 44 0 0 66 11 16.7 62 16 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.835746628 0.835746628 1 1.40722049 1.40722049 1 NA NA 1 NA NA 1 5 NA 1 1 4.07E-14 1 3.36E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 84288381 C G DLG2 CCDS41696.1 r.? - - intronic 27 0 0 68 10 14.7 58 15 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.735657211 0.735657211 1 1.412674833 1.412674833 1 NA NA 1 NA NA 1 5 NA 1 1 2.18E-12 1 7.42E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 84323099 C A DLG2 CCDS41696.1 r.? - - intronic 33 0 0 55 7 12.7 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.635567795 0.635567795 1 0.970873051 0.970873051 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-08 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 84323100 C A DLG2 CCDS41696.1 r.? - - intronic 32 0 0 56 7 12.5 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.625558853 0.625558853 1 0.970873051 0.970873051 1 NA NA 1 NA NA 1 5 NA 1 1 1.46E-08 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 84348539 G C DLG2 CCDS41696.1 r.? - - intronic 28 0 0 65 23 35.4 54 17 31.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.771582672 0.950419312 1.86400113 1.71811804 0.85905902 2 NA NA 1 NA NA 1 5 NA 1 1 2.21E-36 1 3.02E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 84388867 C A DLG2 CCDS41696.1 r.? - - intronic 38 0 0 72 24 33.3 50 17 34 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.666488784 0.894038506 1.86400113 1.854476615 0.927238307 2 NA NA 1 NA NA 1 5 NA 1 1 3.76E-37 1 6.43E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 84646177 C A DLG2 CCDS44690.1 r.? - - intronic 42 0 0 59 8 13.6 57 10 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.680608032 0.680608032 1 0.954510022 0.954510022 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-10 1 3.4E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 84733549 C G DLG2 CCDS44690.1 r.? - - intronic 36 0 0 65 16 24.6 70 15 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.231099823 1.231099823 1 1.167229399 1.167229399 1 NA NA 1 NA NA 1 5 NA 1 1 7.85E-23 1 1.7E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 84776179 G T DLG2 CCDS44690.1 r.? - - intronic 29 0 0 61 19 31.1 51 18 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.556390426 0.834972899 1.86400113 1.925383073 0.962691537 2 NA NA 1 NA NA 1 5 NA 1 1 4.64E-29 1 9.1E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 84910893 C T DLG2 CCDS44690.1 r.? - - intronic 37 0 0 61 7 11.5 59 9 15.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.575514145 0.575514145 1 0.834514477 0.834514477 1 NA NA 1 NA NA 1 5 NA 1 1 2.69E-08 1 1.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 84926438 T C DLG2 CCDS44690.1 r.? - - intronic 38 0 0 80 29 36.2 58 14 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.811618438 0.971897715 1.86400113 1.314496659 1.314496659 1 NA NA 1 NA NA 1 5 NA 1 1 7.59E-46 1 5.04E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 84970114 T A DLG2 CCDS44690.1 r.? - - intronic 42 0 0 78 12 15.4 61 19 31.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.770688507 0.770688507 1 1.696300668 0.848150334 2 NA NA 1 NA NA 1 5 NA 1 1 7.82E-15 1 4.64E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 85045888 C A DLG2 CCDS44690.1 r.? - - intronic 35 0 0 61 20 32.8 66 17 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.64146643 0.880614504 1.86400113 1.40722049 1.40722049 1 NA NA 1 NA NA 1 5 NA 1 1 4.89E-31 1 1.52E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 85079715 A G DLG2 CCDS44690.1 r.? - - intronic 31 0 0 66 14 21.2 50 15 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.060947815 1.060947815 1 1.636302895 0.818151448 2 NA NA 1 NA NA 1 5 NA 1 1 3.71E-19 1 5.83E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 85102716 A T DLG2 CCDS44690.1 r.? - - intronic 32 0 0 55 20 36.4 58 14 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.82162738 0.977267315 1.86400113 1.314496659 1.314496659 1 NA NA 1 NA NA 1 5 NA 1 1 4.08E-32 1 5.04E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 85364116 C T TMEM126A CCDS8268.1 r.? - - intronic 26 0 0 62 14 22.6 60 10 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.131010406 1.131010406 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.42E-19 1 5.86E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 85518027 G C - - - - - - 39 0 0 62 11 17.7 68 23 33.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.885791336 0.885791336 1 1.843567929 0.921783964 2 NA NA 1 NA NA 1 5 NA 1 1 1.96E-14 1 7.7E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 85814946 A G - - - - - - 31 0 0 66 20 30.3 55 20 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.51635466 0.813494496 1.86400113 1.985380846 0.992690423 2 NA NA 1 NA NA 1 5 NA 1 1 3.11E-30 1 4.08E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 85938489 A C - - - - - - 28 0 0 58 17 29.3 58 14 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.466309951 1.466309951 1 1.314496659 1.314496659 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-25 1 5.04E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 86052878 A G C11orf73 CCDS8275.1 r.? - - intronic 28 0 0 78 8 10.3 60 9 15 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.515460495 0.515460495 1 0.818151448 0.818151448 1 NA NA 1 0 0 1 5 NA 1 1 6.71E-09 1 2.29E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 86101184 G T CCDC81 CCDS8276.1 r.? - - intronic 29 0 0 88 27 30.7 70 16 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.536372543 0.824233697 1.86400113 1.249044543 1.249044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-40 1 2.93E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 86152273 G C ME3 CCDS8277.1 r.2117c>g c.? p.? 3'UTR variant 38 0 0 74 8 10.8 69 10 14.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.540482849 0.540482849 1 0.790879733 0.790879733 1 NA NA 1 NA NA 1 5 NA 1 1 4.39E-09 1 2.54E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 86208392 G A ME3 CCDS8277.1 r.? - - intronic 44 0 0 77 8 10.4 74 9 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.520464966 0.520464966 1 0.665429844 0.665429844 1 NA NA 1 NA NA 1 5 NA 1 1 6.05E-09 1 1.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 86462058 G A - - - - - - 28 0 0 71 25 35.2 57 14 24.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.76157373 0.945049712 1.86400113 1.341768374 1.341768374 1 NA NA 1 NA NA 1 5 NA 1 1 2.38E-39 1 3.84E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 86549577 G A - - - - - - 28 0 0 91 27 29.7 66 10 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 1.486327835 0.797385694 1.86400113 0.829060134 0.829060134 1 NA NA 1 NA NA 1 5 NA 1 1 5.35E-40 1 1.6E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 86635332 G C - - - - - - 34 0 0 74 5 6.8 59 2 3.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.340304016 0.340304016 1 0.185447661 0.185447661 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000378 1 0.035441897 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 86984674 A G TMEM135 CCDS8280.1 r.? - - intronic 32 0 0 65 26 40 36 14 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 1.832084312 1.070305986 1.711738826 2.121739421 1.06086971 2 NA NA 0 NA NA 1 5 NA 1 1 1.24E-42 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 87181308 C T - - - - - - 28 0 0 62 14 22.6 50 16 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 1.035127636 1.035127636 1 1.745389755 0.872694878 2 NA NA 0 NA NA 1 5 NA 1 1 1.42E-19 1 6.4E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 87197155 G T - - - - - - 37 0 0 47 7 14.9 57 8 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 0.682451406 0.682451406 1 0.763608018 0.763608018 1 NA NA 0 NA NA 1 5 NA 1 1 4.12E-09 1 5.19E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 87355071 G C - - - - - - 29 0 0 59 10 16.9 57 11 19.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 0.774055622 0.774055622 1 1.052688196 1.052688196 1 NA NA 0 NA NA 1 5 NA 1 1 4.91E-13 1 7.29E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 87419599 C T - - - - - - 34 0 0 58 17 29.3 63 26 41.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 1.342001759 1.342001759 1 2.252643653 1.126321826 2 NA NA 0 NA NA 1 5 NA 1 1 1.24E-25 1 4.45E-43 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 87501727 A T - - - - - - 31 0 0 48 9 18.8 50 2 4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 0.861079627 0.861079627 1 0.218173719 0.218173719 1 NA NA 0 NA NA 1 5 NA 1 1 2.75E-12 1 0.026131524 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 87611043 C T - - - - - - 22 0 0 40 12 30 62 15 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 1.374063234 1.374063234 1 1.319951002 1.319951002 1 NA NA 0 NA NA 1 5 NA 1 1 1.2E-18 1 2.28E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 87945186 T A - - - - - - 34 0 0 31 10 32.3 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 1.479408082 1.479408082 1 0.709064588 0.709064588 1 NA NA 0 NA NA 1 5 NA 1 1 3.94E-16 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 87990806 A T - - - - - - 34 0 0 51 19 37.3 47 25 53.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 1.708418621 0.998060332 1.711738826 2.901710468 0.967236823 3 NA NA 0 NA NA 1 5 NA 1 1 7.94E-31 1 3.98E-45 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 88025252 T C CTSC CCDS8282.1 r.? - - downstream 44 0 0 41 6 14.6 61 22 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 0.668710774 0.668710774 1 1.969017817 0.984508909 2 NA NA 0 NA NA 1 5 NA 1 1 6.05E-08 1 4.38E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 88405982 G T GRM5 CCDS44694.1 r.? - - intronic 46 0 0 40 16 40 52 25 48.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 1.832084312 1.070305986 1.711738826 2.623538976 0.874512992 3 NA NA 0 NA NA 1 5 NA 1 1 8.56E-27 1 1.25E-43 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 88520772 G A GRM5 CCDS44694.1 r.? - - intronic 38 0 0 40 9 22.5 54 10 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 1.030547425 1.030547425 1 1.009053452 1.009053452 1 NA NA 0 NA NA 1 5 NA 1 1 4.64E-13 1 1.91E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 88608954 G T GRM5 CCDS44694.1 r.? - - intronic 32 0 0 29 12 41.4 76 37 48.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 1.896207263 0.948103631 2 2.656265033 0.885421678 3 NA NA 0 NA NA 1 5 NA 1 1 1.17E-20 1 4.04E-64 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 89006193 G A TYR CCDS8284.1 r.? - - intronic 36 0 0 50 26 52 45 27 60 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 2.381709606 0.878296089 2.711738826 3.272605791 1.090868597 3 NA NA 0 NA NA 1 5 NA 1 1 1.61E-46 1 1.17E-50 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 89609881 C A TRIM64B ENST00000329862 r.? - - upstream 15 0 0 43 10 23.3 36 3 8.3 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 1.067189112 1.067189112 1 0.452710468 0.452710468 1 NA NA 0 NA NA 1 5 NA 1 1 1.61E-14 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 89656495 T G TRIM49L CCDS44700.1 r.? - - upstream 27 0 0 46 20 43.5 34 17 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 1.992391689 0.996195845 2 2.727171492 0.909057164 3 NA NA 0 NA NA 1 5 NA 1 1 4.72E-34 1 1.64E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 90019275 T A ENSG00000214391 ENST00000318973 r.? - - downstream 37 0 0 39 11 28.2 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 1.29161944 1.29161944 1 1.489035635 1.489035635 1 NA NA 0 NA NA 1 5 NA 1 1 7.2E-17 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 90739916 A G - - - - - - 42 0 0 37 8 21.6 58 11 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 0.989325528 0.989325528 1 1.036325167 1.036325167 1 NA NA 0 NA NA 1 5 NA 1 1 1.33E-11 1 8.96E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 90748067 T A - - - - - - 26 0 0 44 10 22.7 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 1.039707847 1.039707847 1 0.970873051 0.970873051 1 NA NA 0 NA NA 1 5 NA 1 1 2.08E-14 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 90956596 T A - - - - - - 35 0 0 37 12 32.4 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 1.483988293 1.483988293 1 1.036325167 1.036325167 1 NA NA 0 NA NA 1 5 NA 1 1 4.03E-19 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 91460037 T A - - - - - - 33 0 0 57 36 63.2 37 23 62.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 2.894693213 1.067467554 2.711738826 3.392601336 1.130867112 3 NA NA 0 NA NA 1 5 NA 1 1 2.8E-68 1 6.81E-44 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 91765141 A T - - - - - - 25 0 0 32 12 37.5 35 18 51.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 1.717579042 1.003411862 1.711738826 2.803532294 0.934510765 3 NA NA 0 NA NA 1 5 NA 1 1 5.03E-20 1 1.6E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 91847050 G C - 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- - - - - 27 0 0 27 8 29.6 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.076718802 1.076718802 1 0.677060134 0.677060134 1 NA NA 0 NA NA 1 5 NA 1 1 7.97E-13 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 122511419 T C - - - - - - 31 0 0 47 28 59.6 28 12 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 2.167987859 1.225480862 1.769091568 1.91091314 0.95545657 2 NA NA 0 NA NA 1 5 NA 1 1 2.37E-52 1 6.9E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 123026492 G C ENSG00000166250 CCDS8441.1 r.? - - intronic 33 0 0 39 21 53.8 41 15 36.6 0 0 NA 2 0 0 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.957009174 1.106222657 1.769091568 1.630289532 0.815144766 2 0 NA 0 NA NA 1 5 NA 1 1 2.73E-38 1 1.71E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 123276917 C G - - - - - - 31 0 0 41 10 24.4 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.887565499 0.887565499 1 1.273942094 1.273942094 1 NA NA 0 NA NA 1 5 NA 1 1 9.51E-15 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 123285302 T A - - - - - - 33 0 0 43 22 51.2 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.862432523 1.052762082 1.769091568 1.750556793 0.875278396 2 NA NA 0 NA NA 1 5 NA 1 1 2.27E-39 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 123607283 C T ZNF202 CCDS8443.1 r.? - - intronic 41 0 0 35 20 57.1 35 15 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 2.077048771 1.174076463 1.769091568 1.91091314 0.95545657 2 NA NA 0 NA NA 1 5 NA 1 1 2.88E-37 1 9.02E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 123630587 C T - - - - - - 22 0 0 19 9 47.4 33 16 48.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.724205109 0.974627397 1.769091568 2.160356347 1.080178174 2 NA NA 0 NA NA 1 5 NA 1 1 1.72E-16 1 1.64E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 123738009 A G - - - - - - 32 0 0 52 26 50 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.818781761 1.028087971 1.769091568 1.153674833 1.153674833 1 NA NA 0 NA NA 1 5 NA 1 1 6.52E-46 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 123843293 C G OR10S1 CCDS31701.1 r.? - - downstream 23 0 0 41 20 48.8 32 17 53.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.775130998 1.00341386 1.769091568 2.365256125 1.182628062 2 NA NA 0 NA NA 1 5 NA 1 1 2.32E-35 1 4.02E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 124203851 G T - - - - - - 32 0 0 43 25 58.1 40 17 42.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 2.113424406 1.194638222 1.769091568 1.893095768 0.946547884 2 NA NA 0 NA NA 1 5 NA 1 1 1.66E-46 1 6.07E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 124213551 A T - - - - - - 27 0 0 34 6 17.6 39 8 20.5 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.64021118 0.64021118 1 0.913140312 0.913140312 1 NA NA 0 0 0 1 5 NA 1 1 1.86E-08 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 124328252 C A - - - - - - 29 0 0 36 17 47.2 41 20 48.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.716929982 0.970515045 1.769091568 2.173719376 1.086859688 2 NA NA 0 NA NA 1 5 NA 1 1 6E-30 1 2.32E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 124361020 T A - - - - - - 47 0 0 42 21 50 50 21 42 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.818781761 1.028087971 1.769091568 1.870824053 0.935412027 2 NA NA 0 NA NA 1 5 NA 1 1 2.32E-37 1 2.79E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 125013272 C G - - - - - - 32 0 0 35 5 14.3 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.520171584 0.520171584 1 0.694877506 0.694877506 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000895 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 125315434 G A FEZ1 CCDS31716.1 r.? - - downstream 38 0 0 45 18 40 38 14 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.455025409 0.822470377 1.769091568 1.639198218 0.819599109 2 NA NA 0 NA NA 1 5 NA 1 1 5.76E-30 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 125542343 G C ACRV1 CCDS8460.1 r.1210c>g c.? p.? 3'UTR variant 34 0 0 40 24 60 44 20 45.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 2.182538113 1.233705565 1.769091568 2.026726058 1.013363029 2 NA NA 0 NA NA 1 5 NA 1 1 3.47E-45 1 1.5E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 125757616 G C HYLS1 CCDS8467.1 r.662g>c c.? p.? 5'UTR variant 32 0 0 37 11 29.7 18 4 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.080356366 1.080356366 1 0.988864143 0.988864143 1 NA NA 0 NA NA 1 5 NA 1 1 3.7E-17 1 0.00000181 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 126749501 T C - - - - - - 39 0 0 42 25 59.5 46 15 32.6 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 2.164350295 1.223424686 1.769091568 1.452115813 1.452115813 1 NA NA 0 NA NA 1 5 NA 1 1 6.99E-47 1 1.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 126818585 A T - - - - - - 38 0 0 37 21 56.8 35 16 45.7 0 0 NA 0 0 NA 1 1 100 TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 2.06613608 1.167907935 1.769091568 2.035634744 1.017817372 2 NA NA 0 4.454342984 4.454342984 1 5 NA 1 1 5.69E-39 1 5.66E-28 0.005 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 127150487 A T - - - - - - 33 0 0 36 20 55.6 36 12 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 2.022485318 1.143233824 1.769091568 1.483296214 1.483296214 1 NA NA 0 NA NA 1 5 NA 1 1 6.46E-37 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 127276173 C G - - - - - - 31 0 0 33 20 60.6 31 13 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 2.204363494 1.246042621 1.769091568 1.86636971 0.933184855 2 NA NA 0 NA NA 1 5 NA 1 1 5.14E-38 1 2.32E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 127605566 A T - - - - - - 23 0 0 66 33 50 39 17 43.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.818781761 1.028087971 1.769091568 1.942093541 0.971046771 2 NA NA 0 NA NA 1 5 NA 1 1 7.16E-58 1 3.51E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 127638845 C T - - - - - - 19 0 0 46 17 37 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.345898503 1.345898503 1 1.398663697 1.398663697 1 NA NA 0 NA NA 1 5 NA 1 1 1.16E-27 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 127937851 G T - - - - - - 34 0 0 32 13 40.6 31 17 54.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.47685079 1.47685079 1 2.440979955 1.220489978 2 NA NA 0 NA NA 1 5 NA 1 1 3.88E-22 1 1.89E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 128302050 C G - - - - - - 24 0 0 36 17 47.2 26 12 46.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.716929982 0.970515045 1.769091568 2.057906459 1.028953229 2 NA NA 0 NA NA 1 5 NA 1 1 6E-30 1 2.21E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 128383548 G T ETS1 CCDS8475.1 r.? - - intronic 43 0 0 32 14 43.8 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.593252822 0.900605063 1.769091568 1.069042316 1.069042316 1 NA NA 0 NA NA 1 5 NA 1 1 2.65E-24 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 129243339 C G BARX2 CCDS8481.1 r.? - - upstream 37 0 0 35 18 51.4 7 3 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.86970765 1.056874434 1.769091568 1.91091314 1.91091314 1 NA NA 0 NA NA 1 5 NA 1 1 1.6E-32 1 0.00000431 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 129291212 C G BARX2 CCDS8481.1 r.? - - intronic 33 0 0 41 17 41.5 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.509588861 0.853313016 1.769091568 0.601336303 0.601336303 1 NA NA 0 NA NA 1 5 NA 1 1 1.03E-28 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 129503981 G T - - - - - - 34 0 0 38 20 52.6 37 17 45.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.913358412 1.081548546 1.769091568 2.04454343 1.022271715 2 NA NA 0 NA NA 1 5 NA 1 1 2.94E-36 1 1.1E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 129803275 A G PRDM10 CCDS44771.1 r.? - - intronic 26 0 0 67 16 23.9 59 21 35.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.869377682 0.869377682 1 1.585746102 0.792873051 2 NA NA 0 NA NA 1 5 NA 1 1 1.35E-22 1 2.06E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 130084801 C A ST14 CCDS8487.1 r.? - - downstream 35 0 0 37 24 64.9 35 16 45.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 2.360778725 1.334458187 1.769091568 2.035634744 1.017817372 2 NA NA 0 NA NA 1 5 NA 1 1 1.99E-46 1 5.66E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 130469822 G C - - - - - - 28 0 0 49 7 14.3 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.520171584 0.676345451 0.769091568 1.037861915 1.037861915 1 NA NA 0 NA NA 1 5 NA 1 1 5.58E-09 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 130808338 C G - - - - - - 36 0 0 46 29 63 42 19 45.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 2.291665018 1.295390844 1.769091568 2.013363029 1.006681514 2 NA NA 0 NA NA 1 5 NA 1 1 3E-55 1 7.64E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 130815649 A C - - - - - - 40 0 0 42 7 16.7 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.607473108 0.607473108 1 0.841870824 0.841870824 1 NA NA 0 NA NA 1 5 NA 1 1 1.81E-09 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 130966994 T A - - - - - - 30 0 0 37 7 18.9 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.687499506 0.687499506 1 0.783964365 0.783964365 1 NA NA 0 NA NA 1 5 NA 1 1 7.05E-10 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 131113762 G T - - - - - - 35 0 0 47 25 53.2 39 24 61.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.935183793 1.093885601 1.769091568 2.739420935 1.369710468 2 NA NA 0 NA NA 1 5 NA 1 1 3.98E-45 1 1.39E-45 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 131308205 A T OPCML CCDS41733.1 r.? - - intronic 31 0 0 33 9 27.3 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.993054841 0.993054841 1 1.322939866 1.322939866 1 NA NA 0 NA NA 1 5 NA 1 1 6.76E-14 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 131407336 C T OPCML CCDS41733.1 r.? - - intronic 33 0 0 34 16 47.1 37 14 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.713292419 0.968458869 1.769091568 1.683741648 0.841870824 2 NA NA 0 NA NA 1 5 NA 1 1 3.09E-28 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 131442549 C T OPCML CCDS41733.1 r.? - - intronic 33 0 0 37 14 37.8 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.374999011 1.374999011 1 1.011135857 1.011135857 1 NA NA 0 NA NA 1 5 NA 1 1 3.35E-23 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 131571230 C T OPCML CCDS41733.1 r.? - - intronic 39 0 0 51 28 54.9 27 11 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.997022373 1.128840592 1.769091568 1.812917595 0.906458797 2 NA NA 0 NA NA 1 5 NA 1 1 6.56E-51 1 5.92E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 131712186 C T OPCML CCDS41733.1 r.? - - intronic 44 0 0 48 14 29.2 47 14 29.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.062168548 1.062168548 1 1.327394209 1.327394209 1 NA NA 0 NA NA 1 5 NA 1 1 2.51E-21 1 1.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 131856542 C G OPCML CCDS8491.1 r.? - - intronic 40 0 0 41 23 56.1 38 19 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 2.040673135 1.153514704 1.769091568 2.227171492 1.113585746 2 NA NA 0 NA NA 1 5 NA 1 1 2.21E-42 1 6.16E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 131886975 C T OPCML CCDS8491.1 r.? - - intronic 48 0 0 33 17 51.5 37 14 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.873345214 1.05893061 1.769091568 1.683741648 0.841870824 2 NA NA 0 NA NA 1 5 NA 1 1 8.25E-31 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 131963518 C T OPCML CCDS8491.1 r.? - - intronic 39 0 0 33 20 60.6 37 17 45.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 2.204363494 1.246042621 1.769091568 2.04454343 1.022271715 2 NA NA 0 NA NA 1 5 NA 1 1 5.14E-38 1 1.1E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 131989644 A C OPCML CCDS8491.1 r.? - - intronic 30 0 0 41 5 12.2 27 1 3.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.44378275 0.577021993 0.769091568 0.16481069 0.16481069 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000202 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 132505642 A T ENSG00000183715 CCDS8492.1 r.? - - intronic 38 0 0 39 17 43.6 43 21 48.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.585977695 0.896492711 1.769091568 2.173719376 1.086859688 2 NA NA 0 NA NA 1 5 NA 1 1 3.51E-29 1 4.52E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 132723283 A G ENSG00000183715 CCDS8492.1 r.? - - intronic 35 0 0 40 17 42.5 33 15 45.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.545964497 0.873874775 1.769091568 2.026726058 1.013363029 2 NA NA 0 NA NA 1 5 NA 1 1 6.07E-29 1 2.91E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 133060850 T C ENSG00000183715 CCDS31722.1 r.? - - intronic 38 0 0 42 20 47.6 46 23 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.731480236 0.978739749 1.769091568 2.227171492 1.113585746 2 NA NA 0 NA NA 1 5 NA 1 1 4.41E-35 1 8.79E-41 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 133282144 G T ENSG00000183715 CCDS31722.1 r.? - - intronic 35 0 0 29 15 51.7 33 18 54.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.880620341 1.063042962 1.769091568 2.427616927 1.213808463 2 NA NA 0 NA NA 1 5 NA 1 1 2.22E-27 1 3.68E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 133300361 A T ENSG00000183715 CCDS31722.1 r.? - - intronic 40 0 0 36 17 47.2 34 18 52.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.716929982 0.970515045 1.769091568 2.356347439 1.178173719 2 NA NA 0 NA NA 1 5 NA 1 1 6E-30 1 7.79E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 133546168 A C - - - - - - 29 0 0 34 21 61.8 32 13 40.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 2.248014256 1.270716732 1.769091568 1.808463252 0.904231626 2 NA NA 0 NA NA 1 5 NA 1 1 4.16E-40 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 133686243 A G - - - - - - 26 0 0 27 8 29.6 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.076718802 1.076718802 1 0.71714922 0.71714922 1 NA NA 0 NA NA 1 5 NA 1 1 7.97E-13 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 133849470 T C - - - - - - 31 0 0 42 6 14.3 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.520171584 0.676345451 0.769091568 0.846325167 0.846325167 1 NA NA 0 NA NA 1 5 NA 1 1 7.02E-08 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 133879680 G A - - - - - - 30 0 0 38 17 44.7 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.625990894 0.919110646 1.769091568 1.287305122 1.287305122 1 NA NA 0 NA NA 1 5 NA 1 1 1.99E-29 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 134019683 G A JAM3 CCDS8494.1 r.1699g>a c.? p.? 3'UTR variant 36 0 0 35 14 40 32 19 59.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.455025409 1.455025409 1 2.645879733 1.322939866 2 NA NA 0 NA NA 1 5 NA 1 1 1.28E-23 1 6.23E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 134150105 G T GLB1L3 CCDS44780.1 r.? - - intronic 43 0 0 45 22 48.9 43 19 44.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.778768562 1.005470036 1.769091568 1.968819599 0.9844098 2 NA NA 0 NA NA 1 5 NA 1 1 8.79E-39 1 1.36E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 134615528 C A AP001999.1 ENST00000513405 r.? - - intronic 28 0 0 33 10 30.3 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.102181747 1.102181747 1 1.069042316 1.069042316 1 NA NA 0 NA NA 1 5 NA 1 1 8.14E-16 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 134664285 G T - - - - - - 25 0 0 28 14 50 32 15 46.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.818781761 1.028087971 1.769091568 2.08908686 1.04454343 2 NA NA 0 NA NA 1 5 NA 1 1 2.29E-25 1 1.59E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 134700362 G A - - - - - - 35 0 0 26 11 42.3 30 10 33.3 0 0 NA 0 0 NA 1 1 100 TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.53868937 1.53868937 1 1.483296214 1.483296214 1 NA NA 0 4.454342984 4.454342984 1 5 NA 1 1 3.52E-19 1 2.68E-16 0.005 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 134801942 G T - - - - - - 22 0 0 23 10 43.5 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 1.582340132 1.582340132 1 1.224944321 1.224944321 1 NA NA 0 NA NA 1 5 NA 1 1 1.05E-17 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 306571 C T SLC6A12 CCDS8501.1 r.1791g>a c.1047G>A p.G349G silent 20 0 0 40 13 32.5 36 6 16.7 208 0 0 138 28 20.3 6 3 50 TRUE TRUE 2 2.155146655 1 1 1 1 1 0.844853345 NA 2 NA 1 NA 0.155146655 1.257253385 1.257253385 1 0.76978477 0.76978477 1 0.785299807 0.785299807 1 2.30474482 2.30474482 1 5 4 1 1 1.3E-20 3.13E-36 2.68E-08 0.00000247 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 800648 G A - - - - - - 31 0 0 36 13 36.1 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.155146655 1 1 1 1 1 0.844853345 NA 2 NA 1 NA 0.155146655 1.396518375 1.396518375 1 0.89424099 0.89424099 1 NA NA 1 NA NA 1 5 NA 1 1 2.53E-21 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 809940 T C - - - - - - 23 0 0 40 13 32.5 36 12 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.155146655 1 1 1 1 1 0.844853345 NA 2 NA 1 NA 0.155146655 1.257253385 1.257253385 1 1.53496005 1.53496005 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 915463 G T WNK1 CCDS8506.1 r.? - - intronic 35 0 0 47 11 23.4 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.155146655 1 1 1 1 1 0.844853345 NA 2 NA 1 NA 0.155146655 0.905222437 0.905222437 1 0.921897928 0.921897928 1 NA NA 1 NA NA 1 5 NA 1 1 7.21E-16 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 1165689 A G ERC1 CCDS8508.1 r.? - - intronic 44 0 0 35 6 17.1 44 16 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.155146655 1 1 1 1 1 0.844853345 NA 2 NA 1 NA 0.155146655 0.661508704 0.661508704 1 1.677854229 1.452503214 1.155146655 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 5.57E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 1386828 T A ERC1 CCDS8508.1 r.? - - intronic 36 0 0 38 8 21.1 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.155146655 1 1 1 1 1 0.844853345 NA 2 NA 1 NA 0.155146655 0.816247582 0.816247582 1 0.875803031 0.875803031 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 1572513 C G ERC1 CCDS8508.1 r.? - - intronic 28 0 0 38 11 28.9 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.155146655 1 1 1 1 1 0.844853345 NA 2 NA 1 NA 0.155146655 1.117988395 1.117988395 1 1.318314037 1.318314037 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 1937214 C T CACNA2D4 CCDS44785.1 r.? - - intronic 36 0 0 32 5 15.6 18 9 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.155146655 1 1 1 1 1 0.844853345 NA 2 NA 1 NA 0.155146655 0.603481625 0.603481625 1 2.30474482 1.995196722 1.155146655 NA NA 1 NA NA 1 5 NA 1 1 0.000000562 1 9.12E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 1991265 A T CACNA2D4 CCDS44785.1 r.? - - intronic 31 0 0 38 8 21.1 47 6 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.155146655 1 1 1 1 1 0.844853345 NA 2 NA 1 NA 0.155146655 0.816247582 0.816247582 1 0.590014674 0.590014674 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 1999030 T A CACNA2D4 CCDS44785.1 r.? - - intronic 30 0 0 45 12 26.7 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.155146655 1 1 1 1 1 0.844853345 NA 2 NA 1 NA 0.155146655 1.032882012 1.032882012 1 1.212295775 1.212295775 1 NA NA 1 NA NA 1 5 NA 1 1 6.03E-18 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 2331672 T C CACNA1C CCDS44794.1 r.? - - intronic 28 0 0 47 16 34 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 2.039013663 1.019506831 2 1.490953229 1.490953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.98E-25 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 2491563 A G CACNA1C CCDS44794.1 r.? - - intronic 34 0 0 59 25 42.4 53 22 41.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 2.54276998 0.885558939 2.871372945 2.678552339 0.89285078 3 NA NA 1 NA NA 1 5 NA 1 1 7.66E-42 1 9.5E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 2712753 C T CACNA1C CCDS44794.1 r.? - - intronic 32 0 0 44 8 18.2 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 1.09147202 1.09147202 1 1.077875278 1.077875278 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 2728233 G A CACNA1C CCDS44794.1 r.? - - intronic 30 0 0 52 13 25 50 5 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 1.499274752 1.499274752 1 0.645434298 0.645434298 1 NA NA 1 NA NA 1 5 NA 1 1 6.47E-19 1 0.00000549 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 2754029 C G CACNA1C CCDS44794.1 r.? - - intronic 34 0 0 40 11 27.5 61 17 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 1.649202227 1.649202227 1 1.800761693 0.900380846 2 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 3.33E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 2778667 G C CACNA1C CCDS44794.1 r.? - - intronic 25 0 0 48 9 18.8 50 15 30 2 0 0 0 0 NA 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 1.127454614 1.127454614 1 1.936302895 0.968151448 2 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 5.83E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 2851307 C G - - - - - - 17 0 0 49 16 32.7 44 5 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 1.961051376 0.980525688 2 0.7357951 0.7357951 1 NA NA 1 NA NA 1 5 NA 1 1 4.37E-25 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 2910438 C T FKBP4 CCDS8512.1 r.1375c>u c.1188C>T p.C396C silent 34 0 0 49 11 22.4 55 2 3.6 278 2 0.7 428 52 12.1 32 4 12.5 TRUE TRUE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 1.343350178 1.343350178 1 0.232356347 0.232356347 1 0.72564898 0.72564898 1 0.806792873 0.806792873 1 5 4 1 0.405048245 1.19E-15 1.17E-53 0.031164417 0.0000201 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 12 2949829 G T - - - - - - 27 0 0 55 13 23.6 67 12 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 1.415315366 1.415315366 1 1.155327394 1.155327394 1 NA NA 1 NA NA 1 5 NA 1 1 1.46E-18 1 1.14E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 3534663 C G - - - - - - 43 0 0 68 10 14.7 53 6 11.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 0.881573554 0.881573554 1 0.729340757 0.729340757 1 NA NA 1 NA NA 1 5 NA 1 1 2.18E-12 1 0.000000293 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 3628788 G A PRMT8 CCDS8521.2 r.? - - intronic 23 0 0 56 7 12.5 44 5 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 0.749637376 0.749637376 1 0.7357951 0.7357951 1 NA NA 1 NA NA 1 5 NA 1 1 1.46E-08 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 3699188 G C PRMT8 CCDS8521.2 r.? - - intronic 26 0 0 62 14 22.6 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 1.355344376 1.355344376 1 1.568405345 1.568405345 1 NA NA 1 NA NA 1 5 NA 1 1 1.42E-19 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 3836457 C A EFCAB4B CCDS44803.1 r.? - - intronic 32 0 0 63 15 23.8 47 13 27.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 1.427309564 1.427309564 1 1.787853007 0.893926503 2 NA NA 1 NA NA 1 5 NA 1 1 2.97E-21 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 3882677 G T - - - - - - 28 0 0 74 11 14.9 47 6 12.8 0 0 NA 2 0 0 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 0.893567752 0.893567752 1 0.826155902 0.826155902 1 0 0 1 NA NA 1 5 NA 1 1 1.53E-13 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 4161410 G A - - - - - - 40 0 0 61 31 50.8 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 3.046526296 1.015508765 3 1.936302895 0.968151448 2 NA NA 1 NA NA 1 5 NA 1 1 9.37E-55 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 4214356 T G - - - - - - 41 0 0 42 7 16.7 62 12 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 1.001515534 1.001515534 1 1.252142539 1.252142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 4.19E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 4341312 T C - - - - - - 32 0 0 57 7 12.3 53 9 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 0.737643178 0.737643178 1 1.097238307 1.097238307 1 NA NA 1 NA NA 1 5 NA 1 1 1.66E-08 1 7.1E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 4584037 G T - - - - - - 26 0 0 49 9 18.4 57 9 15.8 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 3.35E-12 1 1.42E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 4622766 A G C12orf4 CCDS8528.1 r.? - - intronic 20 0 0 29 8 27.6 23 7 30.4 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 1.53E-12 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 4974276 C G - - - - - - 33 0 0 51 10 19.6 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.889385416 0.889385416 1 0.796334076 0.796334076 1 NA NA 0 NA NA 1 5 NA 1 1 1.04E-13 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 5033238 C G - - - - - - 35 0 0 49 10 20.4 51 7 13.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.925686861 0.925686861 1 0.747244989 0.747244989 1 NA NA 0 NA NA 1 5 NA 1 1 6.72E-14 1 7.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 5237174 G T - - - - - - 32 0 0 47 9 19.1 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.866697012 0.866697012 1 0.807242762 0.807242762 1 NA NA 0 NA NA 1 5 NA 1 1 2.24E-12 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 5261708 G A - - - - - - 36 0 0 54 20 37 54 26 48.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.678941856 1.005830977 1.669208739 2.623538976 1.311769488 2 NA NA 0 NA NA 1 5 NA 1 1 2.61E-32 1 2.44E-45 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 5269800 T G - - - - - - 39 0 0 42 10 23.8 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.079968005 1.079968005 1 1.090868597 1.090868597 1 NA NA 0 NA NA 1 5 NA 1 1 1.24E-14 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 5414335 A T - - - - - - 40 0 0 55 13 23.6 52 11 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.070892644 1.070892644 1 1.156320713 1.156320713 1 NA NA 0 NA NA 1 5 NA 1 1 1.46E-18 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 5562822 C A NTF3 CCDS44806.1 r.? - - intronic 26 0 0 52 6 11.5 56 16 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.52183328 0.779776547 0.669208739 1.559942094 0.779971047 2 NA NA 0 NA NA 1 5 NA 1 1 0.000000261 1 5.26E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 5948081 G C ANO2 CCDS44807.1 r.? - - intronic 23 0 0 52 8 15.4 51 7 13.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.698802827 0.698802827 1 0.747244989 0.747244989 1 NA NA 0 NA NA 1 5 NA 1 1 2.42E-10 1 7.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 6018676 C G ANO2 CCDS44807.1 r.? - - intronic 25 0 0 48 8 16.7 51 9 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.757792676 0.757792676 1 0.959964365 0.959964365 1 NA NA 0 NA NA 1 5 NA 1 1 1.23E-10 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 6136330 G A VWF CCDS8539.1 r.? - - intronic 29 0 0 58 17 29.3 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.329540443 1.329540443 1 1.156320713 1.156320713 1 NA NA 0 NA NA 1 5 NA 1 1 1.24E-25 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 6550816 C A CD27 CCDS8545.1 r.? - - upstream 25 0 0 37 11 29.7 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.347691166 1.347691166 1 0.850877506 0.850877506 1 NA NA 0 NA NA 1 5 NA 1 1 3.7E-17 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 6623769 C T NCAPD2 CCDS8548.1 r.? - - intronic 22 0 0 40 6 15 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.680652104 0.680652104 1 1.303587973 1.303587973 1 NA NA 0 NA NA 1 5 NA 1 1 5.18E-08 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 7359516 C T PEX5 CCDS44823.1 r.? - - intronic 37 0 0 58 22 37.9 43 20 46.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.719780983 1.030297135 1.669208739 2.536269488 1.268134744 2 NA NA 0 NA NA 1 5 NA 1 1 1.13E-35 1 8.21E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 7494742 C A - - - - - - 35 0 0 48 14 29.2 50 6 12 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.325002762 1.325002762 1 0.654521158 0.654521158 1 NA NA 0 NA NA 1 5 NA 1 1 2.51E-21 1 0.000000206 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 7639338 A G CD163 CCDS8578.1 r.2215u>c c.2215T>C p.S739P missense 34 0 0 45 6 13.3 39 4 10.3 245 0 0 163 23 14.1 51 0 0 TRUE TRUE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.603511532 0.603511532 1 0.561797327 0.561797327 1 0.639812978 0.956073853 0.669208739 0 0 1 5 5 1 1 0.000000108 3.51E-26 0.0000447 1 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9776b 12 7639339 G T CD163 CCDS8578.1 r.2214c>a c.2214C>A p.G738G silent 37 0 0 46 6 13 39 4 10.3 244 0 0 163 22 13.5 51 0 0 TRUE TRUE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.58989849 0.58989849 1 0.561797327 0.561797327 1 0.612586894 0.915389859 0.669208739 0 0 1 5 5 1 1 0.000000123 1.14E-24 0.0000447 1 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9776b 12 7679148 C G - - - - - - 46 0 0 57 12 21.1 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.957450626 0.957450626 1 1.390857461 1.390857461 1 NA NA 0 NA NA 1 5 NA 1 1 1.4E-16 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 7743148 G A - - - - - - 35 0 0 43 13 30.2 24 3 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.370379569 1.370379569 1 0.681792873 0.681792873 1 NA NA 0 NA NA 1 5 NA 1 1 3.88E-20 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 7819891 A C APOBEC1 CCDS8579.1 r.? - - upstream 31 0 0 54 7 13 57 7 12.3 237 0 0 184 32 17.4 39 15 38.5 TRUE TRUE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.58989849 0.58989849 1 0.670884187 0.670884187 1 0.789556441 0.789556441 1 2.099922049 1.049961024 2 5 4 1 1 1.13E-08 7.18E-39 1.66E-08 6.85E-25 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 12 7879968 C T CLEC4C CCDS8583.1 r.? - - downstream 29 0 0 42 14 33.3 42 3 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.511047671 1.511047671 1 0.387258352 0.387258352 1 NA NA 0 NA NA 1 5 NA 1 1 2.83E-22 1 0.001240292 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 7904048 A C CLEC4C CCDS8583.1 r.? - - upstream 33 0 0 45 9 20 59 7 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.907536139 0.907536139 1 0.649066815 0.649066815 1 NA NA 0 NA NA 1 5 NA 1 1 1.47E-12 1 2.12E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 8021376 G T SLC2A14 CCDS8585.1 r.? - - intronic 42 0 0 59 13 22 63 7 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.998289752 0.998289752 1 0.605432071 0.605432071 1 NA NA 0 NA NA 1 5 NA 1 1 3.99E-18 1 3.38E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 8029561 A T SLC2A14 CCDS8585.1 r.? - - upstream 56 0 0 70 6 8.6 60 5 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.39024054 0.583137243 0.669208739 0.452710468 0.452710468 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000156 1 0.0000136 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 8418438 A C - - - - - - 32 0 0 26 4 15.4 53 10 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.698802827 0.698802827 1 1.030870824 1.030870824 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000856 1 1.57E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 8506096 T C - - - - - - 33 0 0 43 13 30.2 46 13 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.370379569 1.370379569 1 1.543579065 1.543579065 1 NA NA 0 NA NA 1 5 NA 1 1 3.88E-20 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 8647840 G C - - - - - - 39 0 0 48 13 27.1 48 5 10.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.229711468 1.229711468 1 0.56725167 0.56725167 1 NA NA 0 NA NA 1 5 NA 1 1 2E-19 1 0.00000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 8768192 T A AICDA CCDS41747.1 r.? - - upstream 29 0 0 56 11 19.6 55 16 29.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.889385416 0.889385416 1 1.587213808 0.793606904 2 NA NA 0 NA NA 1 5 NA 1 1 5.91E-15 1 3.78E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 8894762 G C RIMKLB CCDS41748.1 r.? - - intronic 30 0 0 43 12 27.9 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.266012913 1.266012913 1 1.870839644 0.935419822 2 NA NA 0 NA NA 1 5 NA 1 1 3.24E-18 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 8914548 G A RIMKLB CCDS41748.1 r.? - - intronic 38 0 0 40 10 25 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.134420173 1.134420173 1 1.396311804 1.396311804 1 NA NA 0 NA NA 1 5 NA 1 1 7.22E-15 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 8958196 C T - - - - - - 47 0 0 46 16 34.8 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.579112881 0.94602481 1.669208739 0.719973274 0.719973274 1 NA NA 0 NA NA 1 5 NA 1 1 1.31E-25 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 9023850 T C A2ML1 CCDS8596.2 r.? - - intronic 32 0 0 41 14 34.1 44 16 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.547349116 0.926995576 1.669208739 1.985380846 0.992690423 2 NA NA 0 NA NA 1 5 NA 1 1 1.9E-22 1 5.57E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 9048375 T G - - - - - - 21 0 0 45 7 15.6 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.707878188 0.707878188 1 1.281770601 1.281770601 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000003 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 9112653 T A - - - - - - 36 0 0 45 7 15.6 53 10 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.707878188 0.707878188 1 1.030870824 1.030870824 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000003 1 1.57E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 9363979 G T PZP CCDS8600.1 r.? - - upstream 38 0 0 44 7 15.9 52 12 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.72149123 0.72149123 1 1.259953229 1.259953229 1 NA NA 0 NA NA 1 5 NA 1 1 2.55E-09 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 9550539 G T - - - - - - 22 0 0 44 13 29.5 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.338615804 1.338615804 1 1.118140312 1.118140312 1 NA NA 0 NA NA 1 5 NA 1 1 5.49E-20 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 9788058 G A - - - - - - 35 0 0 61 13 21.3 49 8 16.3 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.966525988 0.966525988 1 0.889057906 0.889057906 1 NA NA 0 NA NA 1 5 NA 1 1 6.41E-18 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 9849518 A C CLEC2D CCDS31741.1 r.2728a>c c.? p.? 3'UTR variant 31 0 0 35 10 28.6 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.297776678 1.297776678 1 0.976327394 0.976327394 1 NA NA 0 NA NA 1 5 NA 1 1 1.6E-15 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 9849519 C A CLEC2D CCDS31741.1 r.2729c>a c.? p.? 3'UTR variant 31 0 0 35 10 28.6 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.297776678 1.297776678 1 0.976327394 0.976327394 1 NA NA 0 NA NA 1 5 NA 1 1 1.6E-15 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 9878423 G T CLECL1 CCDS8603.1 r.? - - intronic 44 0 0 40 5 12.5 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.567210087 0.567210087 1 1.199955457 1.199955457 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000178 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 9946950 C T - - - - - - 48 0 0 54 9 16.7 57 13 22.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.757792676 0.757792676 1 1.2435902 1.2435902 1 NA NA 0 NA NA 1 5 NA 1 1 8.48E-12 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 10279460 C A CLEC7A CCDS41753.1 r.? - - intronic 27 0 0 52 14 26.9 69 11 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.220636106 1.220636106 1 0.867240535 0.867240535 1 NA NA 0 NA NA 1 5 NA 1 1 9.04E-21 1 6.82E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 10350022 C G - - - - - - 29 0 0 44 14 31.8 32 3 9.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.44298246 1.44298246 1 0.512708241 0.512708241 1 NA NA 0 NA NA 1 5 NA 1 1 6.1E-22 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 10388549 A G - - - - - - 29 0 0 48 9 18.8 59 9 15.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.85308397 0.85308397 1 0.834514477 0.834514477 1 NA NA 0 NA NA 1 5 NA 1 1 2.75E-12 1 1.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 10413999 C G - - - - - - 45 0 0 37 11 29.7 52 18 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.347691166 1.347691166 1 1.887202673 0.943601336 2 NA NA 0 NA NA 1 5 NA 1 1 3.7E-17 1 1.39E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 10555038 G T KLRC4 CCDS8624.1 r.? - - downstream 38 0 0 43 9 20.9 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.948375265 0.948375265 1 0.829060134 0.829060134 1 NA NA 0 NA NA 1 5 NA 1 1 9.45E-13 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 10561601 G A KLRC4 CCDS8624.1 r.378c>u c.196C>T p.P66S missense 40 0 0 58 11 19 46 11 23.9 160 0 0 121 26 21.5 252 66 26.2 TRUE TRUE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.862159332 0.862159332 1 1.303587973 1.303587973 1 0.975601349 0.975601349 1 1.429037862 0.714518931 2 5 6 1 1 8.96E-15 1.83E-34 5.55E-16 2.65E-91 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 12 10772385 C G STYK1 CCDS8629.1 r.2148g>c c.? p.? 3'UTR variant 35 0 0 51 8 15.7 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.712415869 0.712415869 1 1.134503341 1.134503341 1 NA NA 0 NA NA 1 5 NA 1 1 2.05E-10 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 10890955 A G - - - - - - 57 0 0 51 12 23.5 51 14 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.066354963 1.066354963 1 1.499944321 1.499944321 1 NA NA 0 NA NA 1 5 NA 1 1 3.24E-17 1 6.64E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 10987130 C A - - - - - - 41 0 0 58 18 31 50 7 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.406681015 1.406681015 1 0.763608018 0.763608018 1 NA NA 0 NA NA 1 5 NA 1 1 1.42E-27 1 6.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 11350965 A G - - - - - - 46 0 0 37 9 24.3 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.102656408 1.102656408 1 0.883603563 0.883603563 1 NA NA 0 NA NA 1 5 NA 1 1 2.14E-13 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 11514549 G A - - - - - - 35 0 0 40 7 17.5 54 7 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.794094121 0.794094121 1 0.709064588 0.709064588 1 NA NA 0 NA NA 1 5 NA 1 1 1.26E-09 1 1.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 11747479 G C - - - - - - 26 0 0 41 18 43.9 51 23 45.1 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.992041824 1.193404861 1.669208739 2.459908686 1.229954343 2 NA NA 0 0 0 1 5 NA 1 1 6.91E-31 1 2.05E-39 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 12222172 C T BCL2L14 CCDS8646.1 r.? - - upstream 20 0 0 28 7 25 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.134420173 1.134420173 1 1.058142539 1.058142539 1 NA NA 0 NA NA 1 5 NA 1 1 8.44E-11 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 12483098 T C MANSC1 CCDS8648.1 r.1417a>g c.1159A>G p.I387V missense 32 0 0 42 6 14.3 50 6 12 290 0 0 169 49 29 30 8 26.7 TRUE TRUE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.648888339 0.648888339 1 0.654521158 0.654521158 1 1.315927401 0.788354009 1.669208739 1.456309577 1.456309577 1 5 4 1 1 7.02E-08 1.03E-70 0.000000206 2.07E-12 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 12 12816906 T C GPR19 CCDS8652.1 r.? - - intronic 34 0 0 43 19 44.2 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 2.005654866 1.201560248 1.669208739 1.865385301 0.93269265 2 NA NA 0 NA NA 1 5 NA 1 1 1.36E-32 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 13117291 A G - - - - - - 23 0 0 55 20 36.4 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.651715772 0.989520204 1.669208739 1.679937639 0.83996882 2 NA NA 0 NA NA 1 5 NA 1 1 4.08E-32 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 13354722 A C EMP1 CCDS8660.1 r.? - - intronic 25 0 0 50 7 14 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.635275297 0.635275297 1 0.992690423 0.992690423 1 NA NA 0 NA NA 1 5 NA 1 1 6.46E-09 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 13443567 T A - - - - - - 29 0 0 42 19 45.2 42 14 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 2.051031673 1.228744869 1.669208739 1.816296214 0.908148107 2 NA NA 0 NA NA 1 5 NA 1 1 7.64E-33 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 13489471 C A - - - - - - 35 0 0 49 21 42.9 33 14 42.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 1.946665017 1.16622024 1.669208739 2.312641425 1.156320713 2 NA NA 0 NA NA 1 5 NA 1 1 1.63E-35 1 4.57E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 13628028 G T - - - - - - 29 0 0 40 6 15 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.680652104 0.680652104 1 1.363585746 1.363585746 1 NA NA 0 NA NA 1 5 NA 1 1 5.18E-08 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 13800522 C G GRIN2B CCDS8662.1 r.? - - intronic 26 0 0 33 10 30.3 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 0.85077951 0.85077951 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 13870639 A C GRIN2B CCDS8662.1 r.? - - intronic 35 0 0 42 5 11.9 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.460348162 0.460348162 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000228 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 14248128 G A - - - - - - 23 0 0 30 5 16.7 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 14294905 G T - - - - - - 30 0 0 27 4 14.8 39 1 2.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.572533849 0.572533849 1 0.115812918 0.115812918 1 NA NA 1 NA NA 1 3 NA 1 1 0.00001 1 0.177567718 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 14367265 A G - - - - - - 37 0 0 45 14 31.1 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.203094778 1.203094778 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 14461808 T A - - - - - - 43 0 0 38 14 36.8 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.423597679 1.423597679 1 1.532293987 1.532293987 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 14737941 G T - - - - - - 36 0 0 51 12 23.5 39 14 35.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 1.599109131 0.799554566 2 NA NA 1 NA NA 1 5 NA 1 1 3.24E-17 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 15349878 C G RERG CCDS8673.1 r.? - - intronic 35 0 0 41 19 46.3 29 22 75.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.791102515 0.895551257 2 3.380846325 1.690423163 2 NA NA 1 NA NA 1 5 NA 1 1 4.2E-33 1 3.6E-45 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 15411933 T C - - - - - - 34 0 0 34 8 23.5 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 0.828507795 0.828507795 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 15551343 C A PTPRO CCDS8675.1 r.? - - intronic 33 0 0 39 7 17.9 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 15967777 C G - - - - - - 41 0 0 40 9 22.5 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 3 2 2 0 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.709064588 0.709064588 1 NA NA 0 NA NA 1 5 NA 1 1 4.64E-13 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 16166407 C A DERA CCDS44838.1 r.? - - intronic 28 0 0 49 9 18.4 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.895798839 0.895798839 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-12 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 16242071 A T - - - - - - 31 0 0 52 10 19.2 60 14 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.934746615 0.934746615 1 1.270861915 1.270861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-13 1 8.54E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 16905775 G C - - - - - - 39 0 0 58 11 19 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.925009671 0.925009671 1 1.161775056 1.161775056 1 NA NA 1 NA NA 1 5 NA 1 1 8.96E-15 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 16948965 A T - - - - - - 32 0 0 46 21 45.7 58 27 46.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.224891683 1.112445841 2 2.541723831 1.270861915 2 NA NA 1 NA NA 1 5 NA 1 1 2.94E-36 1 1.68E-46 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 17145016 A C - - - - - - 36 0 0 53 6 11.3 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.550137331 0.550137331 1 0.992690423 0.992690423 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000293 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 17232875 C G - - - - - - 38 0 0 51 11 21.6 45 13 28.9 0 0 NA 0 0 NA 1 1 100 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.051589942 1.051589942 1 1.576305122 1.576305122 1 NA NA 1 5.454342984 5.454342984 1 5 NA 1 1 1.94E-15 1 7.68E-20 0.005 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 17416882 A T - - - - - - 33 0 0 61 19 31.1 53 7 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.514094778 0.757047389 2 0.719973274 0.719973274 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-29 1 9.85E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 17517300 G A - - - - - - 34 0 0 60 27 45 41 20 48.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.190812379 1.09540619 2 2.661719376 1.330859688 2 NA NA 1 NA NA 1 5 NA 1 1 5.59E-46 1 2.32E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 17697895 C A - - - - - - 33 0 0 46 9 19.6 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 1.178138085 1.178138085 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 17703606 C T - - - - - - 27 0 0 44 8 18.2 51 9 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.886061896 0.886061896 1 0.959964365 0.959964365 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 17792299 C G - - - - - - 46 0 0 65 12 18.5 49 16 32.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.900667311 0.900667311 1 1.783570156 0.891785078 2 NA NA 1 NA NA 1 5 NA 1 1 7.7E-16 1 4.37E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 18329898 G T - - - - - - 26 0 0 49 10 20.4 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.993168279 0.993168279 1 0.725427617 0.725427617 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-14 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 18403438 A C - - - - - - 32 0 0 55 5 9.1 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.443030948 0.443030948 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000883 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 19204560 G C - - - - - - 26 0 0 44 9 20.5 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.99803675 0.99803675 1 1.123594655 1.123594655 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 20107366 G T - - - - - - 37 0 0 57 9 15.8 47 7 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.769218569 0.769218569 1 0.812697105 0.812697105 1 NA NA 1 NA NA 1 5 NA 1 1 1.42E-11 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 20120575 C T - - - - - - 39 0 0 54 9 16.7 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.813034816 0.813034816 1 1.199955457 1.199955457 1 NA NA 1 NA NA 1 5 NA 1 1 8.48E-12 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 20120576 C G - - - - - - 40 0 0 53 9 17 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.827640232 0.827640232 1 1.167229399 1.167229399 1 NA NA 1 NA NA 1 5 NA 1 1 7.1E-12 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 20335852 G C - - - - - - 37 0 0 54 12 22.2 50 6 12 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.080800774 1.080800774 1 0.654521158 0.654521158 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-17 1 0.000000206 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 20341323 A G - - - - - - 39 0 0 37 7 18.9 41 3 7.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.920141199 0.920141199 1 0.398167038 0.398167038 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 20395787 G A - - - - - - 27 0 0 50 12 24 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.168433269 1.168433269 1 0.981781737 0.981781737 1 NA NA 1 NA NA 1 5 NA 1 1 2.49E-17 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 20458929 C T - - - - - - 32 0 0 33 8 24.2 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.178170213 1.178170213 1 0.949055679 0.949055679 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 20714260 G C PDE3A CCDS31754.1 r.? - - intronic 48 0 0 62 14 22.6 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.100274662 1.100274662 1 0.850877506 0.850877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.42E-19 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 20771394 C G PDE3A CCDS31754.1 r.? - - intronic 40 0 0 46 10 21.7 47 5 10.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.056458414 1.056458414 1 0.578160356 0.578160356 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-14 1 0.00000402 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 20905230 C G SLCO1C1 CCDS8683.1 r.2285-10c>g c.1917-10C>G p.? splice region 43 0 0 60 9 15 42 6 14.3 98 0 0 69 13 18.8 235 19 8.1 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.730270793 0.730270793 1 0.779971047 0.779971047 1 0.915272727 0.915272727 1 0.441801782 0.441801782 1 5 5 1 1 2.29E-11 3.64E-17 7.02E-08 2.98E-17 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 12 21218595 A G ENSG00000205754 CCDS44843.1 r.? - - intronic 23 0 0 57 16 28.1 39 20 51.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.368040619 1.368040619 1 2.798077951 1.399038976 2 NA NA 1 NA NA 1 5 NA 1 1 7.28E-24 1 6E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 21615807 A G PYROXD1 CCDS31755.1 r.? - - intronic 35 0 0 47 18 38.3 39 16 41 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.864624758 0.932312379 2 2.236280624 1.118140312 2 NA NA 1 NA NA 1 5 NA 1 1 1.52E-29 1 5.16E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 21994842 C A ABCC9 CCDS8693.1 r.? - - intronic 41 0 0 47 7 14.9 52 9 17.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.725402321 0.725402321 1 0.943601336 0.943601336 1 NA NA 1 NA NA 1 5 NA 1 1 4.12E-09 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 22192538 A G - - - - - - 25 0 0 36 6 16.7 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.813034816 0.813034816 1 1.183592428 1.183592428 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 22279491 T C - - - - - - 54 0 0 62 19 30.6 41 13 31.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.489752418 0.744876209 2 1.729026726 0.864513363 2 NA NA 1 NA NA 1 5 NA 1 1 6.66E-29 1 1.89E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 22289692 T G - - - - - - 29 0 0 39 13 33.3 34 5 14.7 2 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.621201161 0.81060058 2 0.801788419 0.801788419 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 22361839 G A ST8SIA1 CCDS8697.1 r.? - - intronic 38 0 0 52 7 13.5 62 18 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.657243714 0.657243714 1 1.581759465 0.790879733 2 NA NA 1 NA NA 1 5 NA 1 1 8.58E-09 1 5.72E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 22562912 C T - - - - - - 25 0 0 44 6 13.6 48 14 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.662112186 0.662112186 1 1.592668151 0.796334076 2 NA NA 1 NA NA 1 5 NA 1 1 9.37E-08 1 2.51E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 22761803 A G - - - - - - 40 0 0 57 14 24.6 57 9 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.197644101 1.197644101 1 0.861786192 0.861786192 1 NA NA 1 NA NA 1 5 NA 1 1 3.84E-20 1 1.42E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 22853871 C G - - - - - - 41 0 0 44 11 25 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.325405345 1.325405345 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 23110137 A G - - - - - - 35 0 0 53 17 32.1 53 7 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.562779497 0.781389749 2 0.719973274 0.719973274 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-26 1 9.85E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 23556121 T C - - - - - - 35 0 0 39 10 25.6 31 8 25.8 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA 2 NA 1 NA 1 NA 1 NA NA NA NA NA NA NA NA 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 NA NA 1 1 5.44E-15 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 23595577 C G - - - - - - 37 0 0 33 5 15.2 37 14 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.588007737 0.588007737 1 1.683741648 1.683741648 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000066 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 23601906 C G - - - - - - 34 0 0 41 9 22 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 23999103 A G SOX5 CCDS8699.1 r.397u>c c.295T>C p.S99P missense 31 0 0 32 5 15.6 42 0 0 156 0 0 60 3 5 132 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 0 0 1 0.193423598 0.193423598 1 0 0 1 3 2 1 1 0.000000562 0.003458198 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9776b 12 24475113 G C - - - - - - 40 0 0 51 10 19.6 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-13 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 24994866 G A BCAT1 CCDS44845.1 r.? - - intronic 47 0 0 43 14 32.6 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 25697944 T A IFLTD1 CCDS44849.1 r.? - - intronic 39 0 0 43 14 32.6 27 4 14.8 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 0.659242762 0.659242762 1 NA NA 1 0 0 1 5 NA 1 1 4.18E-22 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 25786107 A T IFLTD1 CCDS44847.1 r.? - - intronic 36 0 0 40 9 22.5 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 26004295 A C - - - - - - 37 0 0 44 10 22.7 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 26080464 G T - - - - - - 29 0 0 24 5 20.8 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 26333507 C T - - - - - - 40 0 0 42 9 21.4 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 26550156 C G ITPR2 CCDS41764.1 r.? - - intronic 21 0 0 42 15 35.7 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.381044487 1.381044487 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 26583642 C T ITPR2 CCDS41764.1 r.? - - intronic 39 0 0 41 13 31.7 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 0.828507795 0.828507795 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 27067757 T G C12orf11 CCDS8708.1 r.? - - intronic 43 0 0 45 18 40 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.547388781 1.547388781 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.76E-30 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 27910623 C T MRPS35 CCDS8714.1 r.? - - downstream 43 0 0 36 13 36.1 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.396518375 1.396518375 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 2.53E-21 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 27929884 A T KLHDC5 CCDS31763.1 r.? - - upstream 27 0 0 34 11 32.4 45 14 31.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 1.385300668 1.385300668 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 28126737 G A PTHLH CCDS8715.1 r.? - - upstream 30 0 0 40 11 27.5 27 3 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 28241915 G C - - - - - - 40 0 0 52 16 30.8 40 16 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 1.781737194 1.781737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-24 1 8.56E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 28783450 A C - - - - - - 40 0 0 36 11 30.6 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 28941882 T C - - - - - - 25 0 0 37 9 24.3 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 29118207 T A - - - - - - 44 0 0 29 6 20.7 51 15 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.800773694 0.800773694 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 8.22E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 29693675 C A TMTC1 CCDS8718.1 r.? - - intronic 42 0 0 46 12 26.1 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.00967118 1.00967118 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 29714816 T A TMTC1 CCDS8718.1 r.? - - intronic 46 0 0 44 5 11.4 27 3 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.441005803 0.441005803 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000288 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 29970368 G C - - - - - - 37 0 0 36 13 36.1 49 18 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.396518375 1.396518375 1 1.634743875 1.634743875 1 NA NA 1 NA NA 1 5 NA 1 1 2.53E-21 1 3.8E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 30004708 C A - - - - - - 34 0 0 42 14 33.3 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-22 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 30198051 C T - - - - - - 28 0 0 45 8 17.8 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.688588008 0.688588008 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 30252317 G A - - - - - - 35 1 2.9 36 13 36.1 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.396518375 1.396518375 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 0.16091139 1 2.53E-21 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 30596178 A T - - - - - - 34 0 0 31 8 25.8 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 30613166 G C - - - - - - 30 0 0 41 7 17.1 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 30629925 C T - - - - - - 28 0 0 37 11 29.7 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.14893617 1.14893617 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 30962485 G C - - - - - - 43 0 0 65 14 21.5 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.83172147 0.83172147 1 0.948775056 0.948775056 1 NA NA 1 NA NA 1 5 NA 1 1 2.93E-19 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 30985327 C G - - - - - - 33 0 0 40 6 15 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.580270793 0.580270793 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-08 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 31119729 G T TSPAN11 CCDS31765.1 r.? - - intronic 45 0 0 47 12 25.5 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 32007274 G A - - - - - - 30 0 0 36 8 22.2 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 32103814 G A - - - - - - 36 0 0 40 9 22.5 47 14 29.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.327394209 1.327394209 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 1.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 32144044 G A C12orf35 CCDS8725.2 r.? - - intronic 23 0 0 46 18 39.1 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.512572534 1.512572534 1 1.438752784 1.438752784 1 NA NA 1 NA NA 1 5 NA 1 1 9.41E-30 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 32696357 G A FGD4 CCDS8727.1 r.? - - intronic 25 0 0 37 13 35.1 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.357833656 1.357833656 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 32923280 T A - - - - - - 27 0 0 41 11 26.8 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 1.167037862 1.167037862 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 33092926 T A - - - - - - 33 0 0 40 13 32.5 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 33096605 A G - - - - - - 35 0 0 38 6 15.8 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.611218569 0.611218569 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 33145790 T A - - - - - - 24 0 0 53 16 30.2 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.16827853 1.16827853 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-24 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 33150804 T A - - - - - - 41 0 0 40 13 32.5 51 13 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 1.135857461 1.135857461 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 4.87E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 33284758 A G - - - - - - 32 0 0 49 11 22.4 32 7 21.9 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.866537718 0.866537718 1 0.975501114 0.975501114 1 NA NA 1 0 0 1 5 NA 1 1 1.19E-15 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 33308900 A C - - - - - - 31 0 0 50 14 28 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.083172147 1.083172147 1 1.723830735 1.723830735 1 NA NA 1 NA NA 1 5 NA 1 1 4.84E-21 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 33338338 T A - - - - - - 41 0 0 38 11 28.9 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.153674833 1.153674833 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 33370313 G A - - - - - - 34 0 0 36 12 33.3 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 33540536 G T SYT10 CCDS8732.1 r.? - - intronic 28 0 0 32 10 31.2 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 33656783 C T - - - - - - 51 0 0 44 9 20.5 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 33663051 C G - - - - - - 37 0 0 50 11 22 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 1.670378619 1.670378619 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 33906216 C T - - - - - - 36 0 0 39 9 23.1 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 33973721 G A - - - - - - 38 0 0 36 8 22.2 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.407572383 1.407572383 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 34011015 T C - - - - - - 43 0 0 40 6 15 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.580270793 0.580270793 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-08 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 34078325 A G - - - - - - 35 0 0 40 14 35 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.353965184 1.353965184 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-22 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 34086056 A T - - - - - - 27 0 0 35 10 28.6 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 34317966 G A AC046130.1 ENST00000501954 r.? - - intronic 26 0 0 42 7 16.7 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 34321131 G A AC046130.1 ENST00000501954 r.? - - intronic 31 0 0 37 14 37.8 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.462282398 1.462282398 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-23 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 37904226 C A - - - - - - 30 0 0 55 6 10.9 41 16 39 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.421663443 0.421663443 1 1.737193764 1.737193764 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000367 1 1.4E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 38502246 G A - - - - - - 47 0 0 57 12 21.1 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.4E-16 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 38642498 T C - - - - - - 33 0 0 33 9 27.3 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 38767628 C A - - - - - - 33 0 0 37 9 24.3 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 38804181 T A - - - - - - 32 0 0 41 15 36.6 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.415860735 1.415860735 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 1.71E-24 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 38843754 C A - - - - - - 49 0 0 46 19 41.3 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.597678917 1.597678917 1 0.726057906 0.726057906 1 NA NA 1 NA NA 1 5 NA 1 1 6.97E-32 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 38933060 C A - - - - - - 37 0 0 32 10 31.2 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 38964188 A T - - - - - - 29 0 0 35 7 20 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 39129813 C T CPNE8 CCDS8733.1 r.? - - intronic 30 0 0 41 7 17.1 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 39145155 G T CPNE8 CCDS8733.1 r.? - - intronic 34 0 0 47 21 44.7 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.729206963 1.729206963 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 5.29E-36 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 39258828 C A CPNE8 CCDS8733.1 r.? - - intronic 33 0 0 41 8 19.5 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.754352031 0.754352031 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 39403745 C G - - - - - - 31 0 0 36 6 16.7 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 39639834 C T - - - - - - 36 0 0 40 12 30 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 39778470 C T KIF21A CCDS31773.1 r.? - - intronic 29 0 0 38 7 18.4 44 5 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 0.5077951 0.5077951 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 39910717 A T - - - - - - 37 0 0 40 9 22.5 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.011135857 1.011135857 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 40394897 C A SLC2A13 CCDS8736.2 r.? - - intronic 34 0 0 36 7 19.4 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 40926163 A T MUC19 ENST00000398702 r.? - - intronic 40 0 0 32 9 28.1 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 41091891 G C - - - - - - 28 0 0 44 8 18.2 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 41270428 C A - - - - - - 47 0 0 44 10 22.7 35 4 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.5077951 0.5077951 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 41314911 T A CNTN1 CCDS8737.1 r.? - - intronic 47 0 0 47 16 34 44 14 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.315280464 1.315280464 1 1.416481069 1.416481069 1 NA NA 1 NA NA 1 5 NA 1 1 1.98E-25 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 41610495 T C PDZRN4 ENST00000402685 r.? - - intronic 30 0 0 43 8 18.6 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 41662977 C A PDZRN4 ENST00000402685 r.? - - intronic 35 0 0 36 8 22.2 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 41668781 G C PDZRN4 ENST00000402685 r.? - - intronic 31 0 0 45 11 24.4 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-16 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 41756909 T C PDZRN4 ENST00000402685 r.? - - intronic 33 0 0 33 8 24.2 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.85077951 0.85077951 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 41927511 T G PDZRN4 CCDS8739.1 r.? - - intronic 29 0 0 38 10 26.3 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 42301410 A T - - - - - - 38 0 0 55 14 25.5 40 14 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 1.559020045 1.559020045 1 NA NA 1 NA NA 1 5 NA 1 1 2.19E-20 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 42699282 T A - - - - - - 20 0 0 33 11 33.3 24 2 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 42937607 G A PRICKLE1 CCDS8742.1 r.? - - intronic 34 0 0 40 11 27.5 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 43000087 G T - - - - - - 44 0 0 43 11 25.6 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 43146575 G A - - - - - - 26 0 0 48 16 33.3 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 2.96E-25 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 43936076 C A ADAMTS20 ENST00000389420 r.? - - intronic 40 0 0 22 7 31.8 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.230174081 1.230174081 1 1.714922049 1.714922049 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 44048412 C A - - - - - - 24 0 0 33 6 18.2 25 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.54E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 45966976 C T - - - - - - 35 0 0 35 10 28.6 29 12 41.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.430097996 1.430097996 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 1.17E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 46505362 A G - - - - - - 38 0 0 34 13 38.2 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.095756286 1.095756286 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 47458287 G T - - - - - - 30 0 0 32 11 34.4 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.986754352 0.986754352 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 48209894 T C HDAC7 CCDS8756.2 r.? - - intronic 37 0 0 24 10 41.7 18 8 44.4 0 0 NA 2 0 0 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 1.533728285 1.533728285 1 0 0 1 NA NA 1 5 NA 1 1 1.8E-17 1 1.63E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 50253511 T G - - - - - - 32 0 0 22 11 50 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 3.27E-20 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 50298995 G T FAIM2 CCDS8791.1 r.? - - upstream 23 0 0 25 10 40 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 50505598 T A GPD1 CCDS8799.1 r.? - - downstream 28 0 0 40 13 32.5 25 2 8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.932253385 0.932253385 1 0.276347439 0.276347439 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 51126408 C A DIP2B CCDS31799.1 r.? - - intronic 37 0 0 23 6 26.1 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.74867118 0.74867118 1 0.839405345 0.839405345 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-09 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 51411346 A G SLC11A2 CCDS8805.1 r.? - - intronic 38 0 0 32 12 37.5 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.780681514 0.780681514 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 52083112 T C SCN8A CCDS44891.1 r.? - - intronic 32 0 0 19 5 26.3 25 8 32 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.754408124 0.754408124 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 3.43E-08 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 52332738 C A AC068987.1 ENST00000513193 r.? - - intronic 29 0 0 30 9 30 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 53299175 T C KRT8 CCDS8841.1 r.? - - upstream 28 0 0 35 12 34.3 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.98388588 0.98388588 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 53304402 G C - - - - - - 31 0 0 25 11 44 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.26212766 1.26212766 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 2.04E-19 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 53359608 C G - - - - - - 35 0 0 31 13 41.9 12 5 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 1.440461024 1.440461024 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 2.4E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 53372133 G T - - - - - - 34 0 0 33 8 24.2 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.694170213 0.694170213 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 53646943 T A MFSD5 CCDS8851.1 r.515u>a c.324T>A p.C108* nonsense 33 0 0 28 8 28.6 36 6 16.7 273 0 0 148 56 37.8 4 0 0 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.576875278 0.576875278 1 1.084282398 1.084282398 1 0 0 1 5 5 1 1 1.11E-12 2.55E-88 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 54800061 G C ITGA5 CCDS8880.1 r.? - - intronic 28 0 0 27 8 29.6 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 54901677 A T NCKAP1L CCDS31813.1 r.426a>u c.347A>T p.Q116L missense 39 0 0 40 18 45 29 8 27.6 184 0 0 73 33 45.2 55 1 1.8 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.290812379 1.290812379 1 0.953398664 0.953398664 1 1.296549323 1.296549323 1 0.062178174 0.062178174 1 5 5 1 1 3.9E-31 6.05E-56 1.53E-12 0.240951649 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9776b 12 55076086 G C - - - - - - 21 0 0 25 5 20 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000153 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 55409221 T G NEUROD4 CCDS8886.1 r.? - - upstream 33 0 0 25 4 16 32 0 0 59 1 1.7 34 9 26.5 66 0 0 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.458955513 0.458955513 1 0 0 1 0.760145068 0.760145068 1 0 0 1 3 5 1 0.256019138 0.00000727 9.15E-14 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9776b 12 55427486 A G NEUROD4 CCDS8886.1 r.? - - downstream 33 0 0 35 14 40 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-23 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 55982627 C G - - - - - - 43 0 0 26 9 34.6 18 10 55.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.920614699 1.920614699 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 4.12E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 56109952 C G BLOC1S1 CCDS8889.1 r.133c>g c.33C>G p.A11A silent 31 0 0 36 16 44.4 21 7 33.3 170 0 0 162 60 37 5 2 40 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.273601547 1.273601547 1 1.150296214 1.150296214 1 1.061334623 1.061334623 1 1.381737194 1.381737194 1 5 4 1 1 1.01E-27 8.06E-94 8.54E-12 0.000247509 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 56879284 A G GLS2 CCDS8921.1 r.? - - intronic 34 0 0 32 10 31.2 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 57566445 C G ENSG00000123384 CCDS8932.1 r.? - - intronic 35 0 0 28 4 14.3 27 2 7.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.410191489 0.410191489 1 0.255621381 0.255621381 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000116 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 57604623 C G ENSG00000123384 CCDS8932.1 r.13343c>g c.12877C>G p.R4293G missense 21 0 0 29 11 37.9 15 7 46.7 143 0 0 178 68 38.2 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 1.613178174 1.613178174 1 1.095756286 1.095756286 1 NA NA 1 5 NA 1 1 1.56E-18 3.12E-107 4.85E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 57851175 G A INHBE CCDS8939.1 r.1821g>a c.? p.? 3'UTR variant 38 0 0 30 8 26.7 27 14 51.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 1.792804009 1.792804009 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 1.15E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 58758402 C T - - - - - - 29 0 0 24 14 58.3 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.672319149 1.672319149 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.14E-26 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 59060765 A C - - - - - - 34 0 0 33 11 33.3 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.001759465 1.001759465 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 59125600 G T - - - - - - 26 0 0 31 11 35.5 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 60210196 C T - - - - - - 33 0 0 22 7 31.8 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 60459449 T C - - - - - - 27 0 0 27 11 40.7 20 8 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 4.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 60510583 G A - - - - - - 33 0 0 32 10 31.2 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 1.219383073 1.219383073 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 60982557 A T - - - - - - 36 0 0 24 8 33.3 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-13 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 62403189 T C FAM19A2 CCDS8962.1 r.? - - intronic 27 0 0 18 7 38.9 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.11583559 1.11583559 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.37E-12 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 62804501 A T USP15 CCDS8963.1 r.? - - downstream 34 0 0 31 11 35.5 27 12 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 1.533728285 1.533728285 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 3.96E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 62847755 T A - - - - - - 29 0 0 37 10 27 31 14 45.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.774487427 0.774487427 1 1.561363029 1.561363029 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 1.49E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 63494802 C T - - - - - - 45 0 0 28 9 32.1 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.920779497 0.920779497 1 0.72886637 0.72886637 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 63875320 G T - - - - - - 40 0 0 35 10 28.6 19 7 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.271198218 1.271198218 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 3.73E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 64054699 G C ENSG00000177990 CCDS31851.1 r.? - - intronic 53 0 0 26 9 34.6 18 1 5.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 0.193443207 0.193443207 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 0.086275114 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 65174803 G A TBC1D30 ENST00000229088 r.215g>a c.215G>A p.G72D missense 31 0 0 26 8 30.8 2 0 0 13 0 0 17 0 0 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 0 0 1 0 0 1 NA NA 1 5 NA 1 1 5.63E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 65793369 T C MSRB3 CCDS31853.1 r.? - - intronic 29 0 0 31 10 32.3 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 66004331 T C - - - - - - 36 0 0 34 12 35.3 35 13 37.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.0125706 1.0125706 1 1.281561247 1.281561247 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 1.63E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 66159924 T G - - - - - - 35 0 0 31 11 35.5 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 0.839405345 0.839405345 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 66395523 C A - - - - - - 40 0 0 29 16 55.2 19 3 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.583396518 1.583396518 1 0.545786192 0.545786192 1 NA NA 1 NA NA 1 5 NA 1 1 9.74E-30 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 66400371 A C - - - - - - 36 0 0 24 7 29.2 27 4 14.8 0 0 NA 2 0 0 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 0.511242762 0.511242762 1 0 0 1 NA NA 1 5 NA 1 1 2.51E-11 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 69254936 G A CPM CCDS8987.1 r.? - - intronic 27 0 0 27 13 48.1 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.37973501 1.37973501 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.29E-23 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 69846421 A T - - - - - - 32 0 0 33 11 33.3 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.226291759 1.226291759 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 70063224 T C BEST3 CCDS8992.2 r.? - - intronic 32 0 0 29 11 37.9 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 1.001759465 1.001759465 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 70749669 T G CNOT2 CCDS31857.1 r.? - - downstream 38 0 0 31 11 35.5 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 0.915400891 0.915400891 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 70903132 G A AC025569.1 ENST00000501222 r.? - - intronic 34 0 0 29 14 48.3 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.385471954 1.385471954 1 0.756501114 0.756501114 1 NA NA 1 NA NA 1 5 NA 1 1 4.41E-25 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 71134075 T C PTPRR CCDS8998.1 r.? - - intronic 28 0 0 43 10 23.3 30 6 20 0 0 NA 1 0 0 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.668353965 0.668353965 1 0.690868597 0.690868597 1 0 0 1 NA NA 1 5 NA 1 1 1.61E-14 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 71250782 G T PTPRR CCDS8998.1 r.? - - intronic 43 0 0 24 7 29.2 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 71260027 G T PTPRR CCDS8998.1 r.? - - intronic 35 0 0 27 9 33.3 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 71392726 A T - - - - - - 38 0 0 29 8 27.6 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 71683189 A T TSPAN8 CCDS8999.1 r.? - - intronic 34 0 0 28 7 25 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 72382710 T A TPH2 CCDS31859.1 r.? - - intronic 36 1 2.8 24 10 41.7 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 0.165106833 1 1.8E-17 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 72753198 T C TRHDE CCDS9004.1 r.? - - intronic 35 0 0 36 12 33.3 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.525060134 0.525060134 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 72842793 G A TRHDE CCDS9004.1 r.? - - intronic 32 0 0 21 5 23.8 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.682696325 0.682696325 1 1.119207127 1.119207127 1 NA NA 1 NA NA 1 5 NA 1 1 5.95E-08 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 72887529 C A TRHDE CCDS9004.1 r.? - - intronic 42 0 0 35 16 45.7 28 9 32.1 0 0 NA 2 0 0 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.310891683 1.310891683 1 1.108844098 1.108844098 1 0 0 1 NA NA 1 5 NA 1 1 5.66E-28 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 73245767 C T - - - - - - 36 0 0 25 11 44 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.26212766 1.26212766 1 0.780681514 0.780681514 1 NA NA 1 NA NA 1 5 NA 1 1 2.04E-19 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 73585085 C A - - - - - - 24 0 0 31 11 35.5 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 73730331 A T - - - - - - 31 0 0 21 7 33.3 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.908492205 0.908492205 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-12 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 74550239 G T - - - - - - 39 0 0 29 7 24.1 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.691301741 0.691301741 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 74647651 C A - - - - - - 46 0 0 40 13 32.5 29 12 41.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.932253385 0.932253385 1 1.430097996 1.430097996 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 1.17E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 74847797 T C - - - - - - 34 0 0 38 15 39.5 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.133046422 1.133046422 1 1.278106904 1.278106904 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-25 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 75172967 G C - - - - - - 41 0 0 20 7 35 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.003965184 1.003965184 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-12 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 75434505 G T KCNC2 CCDS9005.1 r.2901c>a c.? p.? 3'UTR variant 39 0 0 34 16 47.1 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.35105029 1.35105029 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 3.09E-28 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 75539832 T A KCNC2 CCDS9005.1 r.? - - intronic 29 0 0 32 6 18.8 23 11 47.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.539272727 0.539272727 1 1.651175947 1.651175947 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 6.25E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 75557804 G T KCNC2 CCDS9005.1 r.? - - intronic 43 0 0 25 11 44 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.26212766 1.26212766 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 2.04E-19 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 75992810 T C - - - - - - 27 0 0 15 4 26.7 23 1 4.3 0 0 NA 1 1 100 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 0.148536748 0.148536748 1 2.868471954 2.868471954 1 NA NA 1 3 NA 1 1 0.000000816 0.005 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 76098997 C A - - - - - - 31 0 0 35 15 42.9 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 9.02E-26 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 76375544 T G - - - - - - 29 0 0 31 13 41.9 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 0.791044543 0.791044543 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 76613697 C T - - - - - - 30 0 0 36 10 27.8 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.797435203 0.797435203 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 77774594 T C - - - - - - 36 0 0 30 13 43.3 26 12 46.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.242048356 1.242048356 1 1.595906459 1.595906459 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 2.21E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 77918168 A G - - - - - - 31 1 3.2 23 10 43.5 29 16 55.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.2477853 1.2477853 1 1.906797327 1.906797327 1 NA NA 1 NA NA 1 5 NA 0.143917729 1 1.05E-17 1 9.74E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 78079415 G T - - - - - - 23 0 0 37 12 32.4 32 13 40.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 1.402463252 1.402463252 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 78178335 C G - - - - - - 44 0 0 38 20 52.6 25 9 36 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.508816248 1.508816248 1 1.243563474 1.243563474 1 NA NA 1 NA NA 1 5 NA 1 1 2.94E-36 1 3.71E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 78190486 C T - - - - - - 42 0 0 30 11 36.7 23 4 17.4 0 0 NA 0 0 NA 2 2 100 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 0.601055679 0.601055679 1 NA NA 1 3.454342984 3.454342984 1 5 NA 1 1 2.44E-18 1 0.00000513 0.000025 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 78264353 C T NAV3 CCDS41815.1 r.? - - intronic 38 0 0 26 11 42.3 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 78683084 A G - - - - - - 29 0 0 33 13 39.4 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.13017795 1.13017795 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 78822213 G T - - - - - - 39 0 0 26 11 42.3 22 10 45.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.571726058 1.571726058 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 5.98E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 79136482 C T - - - - - - 29 0 0 43 15 34.9 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.001096712 1.001096712 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 4.05E-24 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 79160338 G T - - - - - - 38 0 0 24 9 37.5 30 15 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.727171492 1.727171492 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 4.41E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 79253585 T C SYT1 CCDS9017.1 r.? - - upstream 23 0 0 32 9 28.1 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.806040619 0.806040619 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 80441460 A G - - - - - - 40 0 0 34 6 17.6 33 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.504851064 0.504851064 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.86E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 80710641 T C C12orf64 ENST00000442704 r.? - - intronic 35 0 0 31 10 32.3 32 13 40.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 1.402463252 1.402463252 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 80849516 A G PTPRQ ENST00000418574 r.? - - intronic 27 0 0 35 10 28.6 22 4 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 80939461 G C PTPRQ ENST00000418574 r.? - - intronic 43 0 0 31 10 32.3 18 8 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 1.533728285 1.533728285 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 1.63E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 81281781 C A LIN7A CCDS9021.1 r.? - - intronic 21 0 0 23 9 39.1 33 18 54.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 1.882616927 1.882616927 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 3.68E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 81745692 A G PPFIA2 ENST00000443686 r.? - - intronic 19 0 0 22 5 22.7 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.651143133 0.651143133 1 1.046665924 1.046665924 1 NA NA 1 NA NA 1 5 NA 1 1 7.67E-08 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 82025317 G C - - - - - - 29 0 0 35 16 45.7 52 14 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.310891683 1.310891683 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 5.66E-28 1 9.04E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 82083686 G T - - - - - - 39 0 0 30 8 26.7 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 82172348 A T - - - - - - 42 0 0 23 7 30.4 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.872015474 0.872015474 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-11 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 82625188 T A - - - - - - 48 0 0 26 9 34.6 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 83392655 C G TMTC2 CCDS9025.1 r.? - - intronic 32 0 0 26 10 38.5 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 85000074 T C - - - - - - 38 0 0 26 11 42.3 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 85399750 C A - - - - - - 39 0 0 28 7 25 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.518151448 0.518151448 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 85697421 T C ALX1 CCDS9028.1 r.? - - downstream 36 0 0 22 8 36.4 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-13 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 85769821 T A - - - - - - 36 0 0 24 5 20.8 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.596642166 0.596642166 1 0.749592428 0.749592428 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 85877538 T G - - - - - - 41 0 0 19 10 52.6 31 13 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.508816248 1.508816248 1 1.44736971 1.44736971 1 NA NA 1 NA NA 1 5 NA 1 1 8.66E-19 1 2.32E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 86009316 A T - - - - - - 23 0 0 18 5 27.8 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.797435203 0.797435203 1 0.639053452 0.639053452 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-08 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 86366751 C T - - - - - - 31 0 0 30 8 26.7 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 87511910 C A - - - - - - 35 0 0 31 5 16.1 20 1 5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.461823985 0.461823985 1 0.172717149 0.172717149 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000476 1 0.09538952 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 87690781 T A - - - - - - 35 0 0 38 11 28.9 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.828988395 0.828988395 1 0.670142539 0.670142539 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 87762374 G C - - - - - - 35 0 0 35 11 31.4 36 15 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.900700193 0.900700193 1 1.440461024 1.440461024 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 1.54E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 87794649 A G - - - - - - 34 0 0 27 9 33.3 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 87824739 A T - - - - - - 50 0 0 23 9 39.1 42 14 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 87957666 T G - - - - - - 27 0 0 36 13 36.1 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.035518375 1.035518375 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.53E-21 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 88576724 A T TMTC3 CCDS9032.1 r.? - - intronic 39 0 0 33 9 27.3 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 89019259 C T - - - - - - 29 0 0 24 10 41.7 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.8E-17 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 89547791 C A - - - - - - 30 1 3.3 22 6 27.3 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 1.008668151 1.008668151 1 NA NA 1 NA NA 1 5 NA 0.139615808 1 1.09E-09 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 90675176 G C - - - - - - 32 0 0 26 11 42.3 34 13 38.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.31955902 1.31955902 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 1.03E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 91092852 A G - - - - - - 21 0 0 39 7 17.9 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 92053792 A T - - - - - - 35 0 0 43 21 48.8 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.887814313 0.943907157 2 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 4.52E-37 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 92314859 G A - - - - - - 37 0 0 47 11 23.4 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.905222437 0.905222437 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 7.21E-16 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 92659261 G A - - - - - - 30 0 0 39 18 46.2 40 14 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.787234043 0.893617021 2 1.559020045 0.779510022 2 NA NA 1 NA NA 1 5 NA 1 1 2.15E-31 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 93399265 T A - - - - - - 32 0 0 32 14 43.8 29 15 51.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.694390716 0.847195358 2 2.302895323 1.151447661 2 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 2.22E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 93794887 C G NUDT4P1 CCDS9044.1 r.2676c>g c.? p.? 3'UTR variant 35 0 0 43 9 20.9 57 16 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.808510638 0.808510638 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 7.28E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 94429795 T A - - - - - - 25 0 0 40 5 12.5 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000178 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 94524111 G T - - - - - - 39 0 0 41 9 22 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 95396563 C T NDUFA12 CCDS9050.1 r.176g>a c.121G>A p.E41K missense 40 0 0 41 20 48.8 39 16 41 129 0 0 65 27 41.5 133 34 25.6 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.887814313 0.943907157 2 1.826280624 0.913140312 2 1.605415861 0.80270793 2 1.140311804 1.140311804 1 5 4 1 1 2.32E-35 8.98E-45 5.16E-27 1.94E-47 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 12 95697925 A G VEZT CCDS44954.1 r.? - - downstream 29 0 0 50 28 56 43 18 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.166344294 1.083172147 2 1.86636971 0.933184855 2 NA NA 1 NA NA 1 5 NA 1 1 2.97E-51 1 2.06E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 95993328 T C - - - - - - 35 0 0 40 7 17.5 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.676982592 0.676982592 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 96101414 A G NTN4 CCDS9054.1 r.? - - intronic 50 0 0 52 30 57.7 39 14 35.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.232108317 1.116054159 2 1.599109131 0.799554566 2 NA NA 1 NA NA 1 5 NA 1 1 2.26E-55 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 96569132 T G - - - - - - 28 0 0 40 4 10 39 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.386847195 0.386847195 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000495 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 96572069 C T - - - - - - 24 0 0 32 18 56.2 39 22 56.4 0 0 NA 1 0 0 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.174081238 1.087040619 2 2.512249443 1.256124722 2 0 0 1 NA NA 1 5 NA 1 1 1.68E-33 1 1.12E-40 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 96913695 A T C12orf55 ENST00000298953 r.? - - intronic 33 0 0 40 4 10 28 2 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.386847195 0.386847195 1 0.316258352 0.316258352 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000495 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 97278871 A G - - - - - - 39 0 0 38 18 47.4 48 25 52.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.833655706 0.916827853 2 2.320712695 1.160356347 2 NA NA 1 NA NA 1 5 NA 1 1 1.16E-31 1 8.26E-45 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 97504697 C G - - - - - - 26 1 3.8 35 13 37.1 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.435203095 1.435203095 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 0.122190858 1 1.63E-21 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 97739517 G T - - - - - - 30 0 0 37 12 32.4 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 97847730 G C - - - - - - 35 0 0 50 6 12 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.464216634 0.464216634 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000206 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 98225500 T C - - - - - - 34 0 0 40 18 45 30 14 46.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.740812379 0.87040619 2 2.080178174 1.040089087 2 NA NA 1 NA NA 1 5 NA 1 1 3.9E-31 1 8.24E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 98585734 G T - - - - - - 28 0 0 41 15 36.6 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.415860735 1.415860735 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 1.71E-24 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 99231651 A G ANKS1B ENST00000329257 r.? - - intronic 38 0 0 33 15 45.5 33 17 51.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.760154739 0.880077369 2 2.293986637 1.146993318 2 NA NA 1 NA NA 1 5 NA 1 1 2.91E-26 1 8.25E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 99679833 C T ANKS1B ENST00000329257 r.? - - intronic 26 0 0 50 20 40 32 22 68.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.547388781 0.773694391 2 3.064587973 1.532293987 2 NA NA 1 NA NA 1 5 NA 1 1 3.9E-33 1 1.47E-43 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 100034986 T G ANKS1B ENST00000329257 r.? - - intronic 35 0 0 33 18 54.5 34 18 52.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.108317215 1.054158607 2 2.356347439 1.178173719 2 NA NA 1 NA NA 1 5 NA 1 1 3.68E-33 1 7.79E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 100443667 A T UHRF1BP1L CCDS31882.1 r.? - - intronic 41 0 0 41 19 46.3 46 23 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.791102515 0.895551257 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 4.2E-33 1 8.79E-41 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 100750329 G A SLC17A8 CCDS9077.1 r.? - - upstream 21 0 0 38 12 31.6 23 4 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 0.775055679 0.775055679 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 101109943 C A - - - - - - 24 0 0 32 5 15.6 23 3 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 0.579064588 0.579064588 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000562 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 101550932 A G SLC5A8 CCDS9080.1 r.2321u>c c.? p.? 3'UTR variant 24 0 0 36 8 22.2 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 101661708 C G - - - - - - 33 0 0 29 9 31 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 0.605790646 0.605790646 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 101711903 A T UTP20 CCDS9081.1 r.? - - intronic 27 0 0 38 6 15.8 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.611218569 0.611218569 1 1.011135857 1.011135857 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 102477505 T G NUP37 CCDS9089.1 r.? - - intronic 46 0 0 50 24 48 38 20 52.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.856866538 0.928433269 2 2.34298441 1.171492205 2 NA NA 1 NA NA 1 5 NA 1 1 6.39E-42 1 2.94E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 102882223 G C - - - - - - 40 0 0 43 9 20.9 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.808510638 0.808510638 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 103301491 G A PAH ENST00000307000 r.? - - intronic 26 0 0 40 20 50 34 12 35.3 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.934235977 0.967117988 2 1.572383073 1.572383073 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-35 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 103331071 T G - - - - - - 34 0 0 23 12 52.2 40 18 45 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.01934236 1.00967118 2 2.004454343 1.002227171 2 NA NA 1 NA NA 1 5 NA 1 1 3.14E-22 1 3.9E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 103528109 C G - - - - - - 40 0 0 50 21 42 45 21 46.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.624758221 0.81237911 2 2.080178174 1.040089087 2 NA NA 1 NA NA 1 5 NA 1 1 2.79E-35 1 1.6E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 103571331 A T - - - - - - 43 0 0 40 20 50 27 12 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.934235977 0.967117988 2 1.977728285 0.988864143 2 NA NA 1 NA NA 1 5 NA 1 1 1.19E-35 1 3.96E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 103676526 T A C12orf42 ENST00000416544 r.? - - intronic 39 0 0 44 10 22.7 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 103994948 G A STAB2 CCDS31888.1 r.? - - intronic 32 0 0 42 21 50 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.934235977 0.967117988 2 1.563474388 0.781737194 2 NA NA 1 NA NA 1 5 NA 1 1 2.32E-37 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 104521238 G A NFYB CCDS9098.1 r.? - - intronic 20 0 0 33 16 48.5 34 15 44.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.876208897 0.938104449 2 1.964365256 0.982182628 2 NA NA 1 NA NA 1 5 NA 1 1 1.64E-28 1 5.18E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 104602839 G A - - - - - - 25 0 0 40 9 22.5 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 105666492 G T - - - - - - 22 0 0 41 6 14.6 44 5 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.564796905 0.564796905 1 0.5077951 0.5077951 1 NA NA 1 NA NA 1 5 NA 1 1 6.05E-08 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 105890370 G T - - - - - - 34 0 0 38 18 47.4 32 16 50 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.833655706 0.916827853 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 1.16E-31 1 8.51E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 105953278 G T - - - - - - 24 0 0 35 11 31.4 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 106920935 G T - - - - - - 29 1 3.4 47 26 55.3 41 16 39 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.13926499 1.069632495 2 1.737193764 0.868596882 2 NA NA 1 NA NA 1 5 NA 0.135292269 1 1.69E-47 1 1.4E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 107056303 C G RFX4 CCDS9106.1 r.? - - intronic 40 0 0 37 9 24.3 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 107283661 A G RIC8B CCDS9109.2 r.? - - downstream 36 0 0 35 21 60 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.321083172 1.160541586 2 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-39 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 107606858 A T - - - - - - 36 0 0 35 9 25.7 47 13 27.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 1.233853007 1.233853007 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 108342550 T C - - - - - - 51 0 0 46 16 34.8 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.34622824 1.34622824 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 1.31E-25 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 108378096 A T - - - - - - 21 0 0 42 19 45.2 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.748549323 0.874274662 2 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 7.64E-33 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 108562053 G T WSCD2 CCDS41828.1 r.? - - intronic 31 0 0 36 20 55.6 40 18 45 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.150870406 1.075435203 2 2.004454343 1.002227171 2 NA NA 1 NA NA 1 5 NA 1 1 6.46E-37 1 3.9E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 108767443 C A - - - - - - 25 0 0 32 9 28.1 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 1.305122494 1.305122494 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 108785665 C T - - - - - - 35 0 0 44 24 54.5 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.108317215 1.054158607 2 1.438752784 1.438752784 1 NA NA 1 NA NA 1 5 NA 1 1 9.53E-44 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 109015528 T G SELPLG CCDS31895.1 r.? - - downstream 22 0 0 32 5 15.6 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000562 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 109502895 G T USP30 CCDS9123.2 r.? - - intronic 28 0 0 38 17 44.7 26 15 57.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.729206963 0.864603482 2 2.570155902 1.285077951 2 NA NA 1 NA NA 1 5 NA 1 1 1.99E-29 1 2.24E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 109743786 A T FOXN4 CCDS9126.2 r.? - - intronic 28 0 0 35 9 25.7 36 3 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 110065668 G A - - - - - - 37 0 0 42 9 21.4 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 110515089 T A ENSG00000214159 ENST00000377158 r.? - - upstream 27 0 0 47 21 44.7 31 13 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.729206963 0.864603482 2 1.86636971 0.933184855 2 NA NA 1 NA NA 1 5 NA 1 1 5.29E-36 1 2.32E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 111700586 C A CUX2 CCDS41837.1 r.? - - intronic 38 0 0 50 10 20 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 8.36E-14 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 111921490 A G ATXN2 CCDS31902.1 r.? - - intronic 28 0 0 52 9 17.3 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.669245648 0.669245648 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-12 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 113007173 T C - - - - - - 27 0 0 42 23 54.8 37 17 45.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.119922631 1.059961315 2 2.04454343 1.022271715 2 NA NA 1 NA NA 1 5 NA 1 1 4.86E-42 1 1.1E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 113044385 A G - - - - - - 31 0 0 33 5 15.2 38 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.588007737 0.588007737 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000066 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 113048576 C A - - - - - - 25 0 0 26 12 46.2 33 18 54.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.787234043 0.893617021 2 2.427616927 1.213808463 2 NA NA 1 NA NA 1 5 NA 1 1 2.21E-21 1 3.68E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 113285120 C A RPH3A CCDS31904.1 r.? - - intronic 36 0 0 31 11 35.5 40 14 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.373307544 1.373307544 1 1.559020045 0.779510022 2 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 113365019 T C OAS1 ENST00000377508 r.? - - intronic 29 0 0 36 6 16.7 41 3 7.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.325167038 0.325167038 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 113390499 A C OAS3 CCDS44981.1 r.? - - intronic 29 0 0 27 15 55.6 41 16 39 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.150870406 1.075435203 2 1.737193764 0.868596882 2 NA NA 1 NA NA 1 5 NA 1 1 5.01E-28 1 1.4E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 113562052 C T RASAL1 CCDS9165.1 r.? - - intronic 20 0 0 27 9 33.3 19 7 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.639198218 1.639198218 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 3.73E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 113649130 A G IQCD CCDS9167.1 r.? - - intronic 32 0 0 30 17 56.7 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.193423598 1.096711799 2 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 8.59E-32 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 113760723 C G SLC24A6 CCDS31909.1 r.? - - intronic 30 0 0 40 20 50 29 15 51.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.934235977 0.967117988 2 2.302895323 1.151447661 2 NA NA 1 NA NA 1 5 NA 1 1 1.19E-35 1 2.22E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 114022572 T A - - - - - - 38 0 0 38 6 15.8 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.611218569 0.611218569 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 114025663 C T - - - - - - 25 0 0 29 6 20.7 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.800773694 0.800773694 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 114438478 T C - - - - - - 22 0 0 35 9 25.7 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 0.855233853 0.855233853 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 114525078 G T - - - - - - 39 0 0 63 12 19 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.735009671 0.735009671 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 5.15E-16 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 114876529 G T - - - - - - 34 0 0 52 12 23.1 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 4.19E-17 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 114888036 C A - - - - - - 26 0 0 34 9 26.5 21 4 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 114932709 G T - - - - - - 19 0 0 32 19 59.4 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.29787234 1.14893617 2 1.425389755 1.425389755 1 NA NA 1 NA NA 1 5 NA 1 1 6.23E-36 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 115055046 C A - - - - - - 27 0 0 33 19 57.6 38 14 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.228239845 1.114119923 2 1.639198218 0.819599109 2 NA NA 1 NA NA 1 5 NA 1 1 1.46E-35 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 115125864 T A TBX3 CCDS9176.1 r.? - - upstream 29 0 0 37 25 67.6 30 13 43.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.615087041 1.30754352 2 1.928730512 0.964365256 2 NA NA 1 NA NA 1 5 NA 1 1 5.21E-49 1 1.35E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 115146144 G C - - - - - - 29 0 0 49 7 14.3 31 3 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.432071269 0.432071269 1 NA NA 1 NA NA 1 5 NA 1 1 5.58E-09 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 115158808 G T AC026765.2 CCDS30969.1 r.? - - intronic 21 0 0 44 10 22.7 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 115417456 G C - - - - - - 28 0 0 37 18 48.6 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.880077369 0.940038685 2 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 6.16E-32 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 115431246 C G - - - - - - 42 0 0 45 25 55.6 36 16 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.150870406 1.075435203 2 1.977728285 0.988864143 2 NA NA 1 NA NA 1 5 NA 1 1 8.58E-46 1 1.01E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 115640175 C A - - - - - - 36 0 0 36 10 27.8 39 15 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 1.714922049 0.857461024 2 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 6.85E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 115696314 A G - - - - - - 39 0 0 42 12 28.6 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 116236774 T A - - - - - - 26 0 0 37 18 48.6 34 15 44.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.880077369 0.940038685 2 1.964365256 0.982182628 2 NA NA 1 NA NA 1 5 NA 1 1 6.16E-32 1 5.18E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 116741496 A T - - - - - - 36 0 0 49 28 57.1 30 13 43.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.208897485 1.104448743 2 1.928730512 0.964365256 2 NA NA 1 NA NA 1 5 NA 1 1 1.31E-51 1 1.35E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 116786840 A C - - - - - - 34 0 0 37 8 21.6 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 116860497 C G - - - - - - 30 0 0 43 9 20.9 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.808510638 0.808510638 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 117137120 G T - - - - - - 32 0 0 37 6 16.2 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.626692456 0.626692456 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-08 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 117586298 T C FBXO21 CCDS9184.1 r.? - - intronic 30 0 0 40 7 17.5 35 0 0 186 0 0 87 13 14.9 8 4 50 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.676982592 0.676982592 1 0 0 1 0.576402321 0.576402321 1 2.227171492 2.227171492 1 3 4 1 1 1.26E-09 8.85E-16 1 4.31E-08 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 118193507 T G KSR2 ENST00000425217 r.? - - intronic 43 0 0 36 4 11.1 31 2 6.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.429400387 0.429400387 1 0.289532294 0.289532294 1 NA NA 1 NA NA 1 4 NA 1 1 0.0000324 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 118440415 T A - - - - - - 31 0 0 28 9 32.1 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.241779497 1.241779497 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 119067402 G T - - - - - - 28 0 0 34 18 52.9 42 18 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.046421663 1.023210832 2 1.91091314 0.95545657 2 NA NA 1 NA NA 1 5 NA 1 1 7.79E-33 1 1.2E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 119346588 C T - - - - - - 24 0 0 38 25 65.8 33 16 48.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.545454545 1.272727273 2 2.160356347 1.080178174 2 NA NA 1 NA NA 1 5 NA 1 1 1.52E-48 1 1.64E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 119368631 G C - - - - - - 36 0 0 38 21 55.3 54 28 51.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.13926499 1.069632495 2 2.311804009 1.155902004 2 NA NA 1 NA NA 1 5 NA 1 1 1.27E-38 1 6.17E-50 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 119405793 T C - - - - - - 40 0 0 40 8 20 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.011135857 1.011135857 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 120235053 G A CIT CCDS9192.1 r.? - - intronic 38 0 0 55 18 32.7 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.264990329 1.264990329 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 4.61E-28 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 121018975 T C POP5 CCDS9202.1 r.142a>g c.106A>G p.T36A missense 31 0 0 43 20 46.5 27 7 25.9 187 0 0 269 129 48 4 4 100 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.798839458 0.899419729 2 1.153674833 1.153674833 1 1.856866538 0.928433269 2 4.454342984 2.227171492 2 5 4 1 1 8.21E-35 2.7E-218 6.36E-11 6.25E-10 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 121027367 G A - - - - - - 33 0 0 36 7 19.4 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 121185053 G C - - - - - - 34 0 0 44 25 56.8 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.19729207 1.098646035 2 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 3.83E-46 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 121292265 C G ENSG00000157837 CCDS9208.1 r.? - - intronic 30 0 0 28 13 46.4 52 22 42.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.794970986 0.897485493 2 1.884187082 0.942093541 2 NA NA 1 NA NA 1 5 NA 1 1 4.26E-23 1 5.59E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 122374190 C A WDR66 CCDS41853.1 r.? - - intronic 26 0 0 36 8 22.2 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 122440604 C T WDR66 CCDS41853.1 r.? - - intronic 35 0 0 35 7 20 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 122453818 C A - - - - - - 24 0 0 32 13 40.6 26 15 57.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.570599613 0.785299807 2 2.570155902 1.285077951 2 NA NA 1 NA NA 1 5 NA 1 1 3.88E-22 1 2.24E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 122588633 G C MLXIP ENST00000319080 r.? - - intronic 34 0 0 38 10 26.3 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 122939165 G A - - - - - - 30 0 0 43 25 58.1 25 12 48 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.247582205 1.123791103 2 2.138084633 1.069042316 2 NA NA 1 NA NA 1 5 NA 1 1 1.66E-46 1 1.2E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 123797035 G T SBNO1 CCDS9246.1 r.? - - intronic 32 0 0 44 12 27.3 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 124263202 C A DNAH10 CCDS9255.2 r.? - - intronic 30 0 0 41 13 31.7 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 0.873051225 0.873051225 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 124338925 G A DNAH10 CCDS9255.2 r.? - - intronic 31 0 0 32 8 25 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 125383190 G A - - - - - - 26 0 0 25 6 24 17 4 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.928433269 0.928433269 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 125712144 C A - - - - - - 30 0 0 48 10 20.8 34 8 23.5 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 1.046770601 1.046770601 1 0 0 1 NA NA 1 5 NA 1 1 5.37E-14 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 126292627 G A - - - - - - 32 0 0 25 13 52 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.011605416 1.005802708 2 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 6E-24 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 126292724 T C - - - - - - 40 0 0 35 6 17.1 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 126311754 A T - - - - - - 42 0 0 41 6 14.6 51 8 15.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.564796905 0.564796905 1 0.699331849 0.699331849 1 NA NA 1 NA NA 1 5 NA 1 1 6.05E-08 1 2.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 126401004 T A - - - - - - 38 0 0 30 8 26.7 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 126973892 A G - - - - - - 37 0 0 44 9 20.5 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.948775056 0.948775056 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 126997364 A T - - - - - - 31 0 0 51 13 25.5 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 4.87E-19 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 127115057 G T - - - - - - 35 0 0 37 10 27 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 1.398663697 1.398663697 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 127124434 G C - - - - - - 42 0 0 40 5 12.5 47 1 2.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 0.093541203 0.093541203 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000178 1 0.209895027 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 127221805 C A - - - - - - 28 0 0 39 20 51.3 48 20 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.984526112 0.992263056 2 1.857461024 0.928730512 2 NA NA 1 NA NA 1 5 NA 1 1 6E-36 1 1.4E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 127276747 A T - - - - - - 44 0 0 47 10 21.3 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.823984526 0.823984526 1 1.167037862 1.167037862 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 127300486 T A - - - - - - 48 1 2.1 38 16 42.1 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.628626692 0.814313346 2 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 0.213845552 1 3.06E-27 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 127319590 G C - - - - - - 25 0 0 37 17 45.9 31 13 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.775628627 0.887814313 2 1.86636971 0.933184855 2 NA NA 1 NA NA 1 5 NA 1 1 1.1E-29 1 2.32E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 127368272 C A - - - - - - 35 0 0 39 18 46.2 30 16 53.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.787234043 0.893617021 2 2.374164811 1.187082405 2 NA NA 1 NA NA 1 5 NA 1 1 2.15E-31 1 2.08E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 127425756 C A AC078878.2 ENST00000512624 r.? - - intronic 37 0 0 35 18 51.4 36 16 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.988394584 0.994197292 2 1.977728285 0.988864143 2 NA NA 1 NA NA 1 5 NA 1 1 1.6E-32 1 1.01E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 127751263 T C - - - - - - 28 0 0 40 23 57.5 32 16 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.224371373 1.112185687 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 9.75E-43 1 8.51E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 128086552 A T - - - - - - 32 0 0 28 6 21.4 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 128110544 G C - - - - - - 35 0 0 43 19 44.2 28 12 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.709864603 0.854932302 2 1.91091314 0.95545657 2 NA NA 1 NA NA 1 5 NA 1 1 1.36E-32 1 6.9E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 128689519 T G - - - - - - 23 0 0 32 4 12.5 35 3 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 0.383073497 0.383073497 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000201 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 128855345 G A - - - - - - 22 0 0 22 10 45.5 33 21 63.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.760154739 0.880077369 2 2.832962138 1.416481069 2 NA NA 1 NA NA 1 5 NA 1 1 5.98E-18 1 1.6E-40 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 129286700 C T SLC15A4 CCDS9264.1 r.? - - intronic 27 0 0 48 11 22.9 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 9.31E-16 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 129569203 C A TMEM132D CCDS9266.1 r.1488g>u c.1488G>T p.M496I missense 35 0 0 39 13 33.3 23 2 8.7 230 0 0 191 54 28.3 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.38752784 0.38752784 1 1.094777563 1.094777563 1 NA NA 1 5 NA 1 1 8.79E-21 4.52E-77 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 129687968 C T TMEM132D CCDS9266.1 r.? - - intronic 37 0 0 35 6 17.1 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 129716524 A T TMEM132D CCDS9266.1 r.? - - intronic 38 0 0 32 10 31.2 33 17 51.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 2.293986637 1.146993318 2 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 8.25E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 129840464 C G TMEM132D CCDS9266.1 r.? - - intronic 27 0 0 35 8 22.9 34 13 38.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 1.70155902 0.85077951 2 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 1.03E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 130410774 C T - - - - - - 24 0 0 20 13 65 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.51450677 1.257253385 2 1.527839644 1.527839644 1 NA NA 1 NA NA 1 5 NA 1 1 9.16E-26 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 130424653 G C - - - - - - 31 0 0 45 16 35.6 36 13 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.377176015 1.377176015 1 1.608017817 0.804008909 2 NA NA 1 NA NA 1 5 NA 1 1 8.61E-26 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 130570384 G A - - - - - - 28 0 0 31 10 32.3 23 4 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 0.775055679 0.775055679 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 130646042 C A FZD10 CCDS9267.1 r.? - - upstream 29 0 0 32 6 18.8 12 0 0 237 0 0 358 91 25.4 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 0 0 1 0.982591876 0.982591876 1 NA NA 1 5 NA 1 1 1.27E-08 7.16E-124 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 131107002 C T - - - - - - 44 0 0 38 17 44.7 21 9 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.729206963 0.864603482 2 1.91091314 0.95545657 2 NA NA 1 NA NA 1 5 NA 1 1 1.99E-29 1 5.44E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 131123600 T A - - - - - - 20 0 0 39 23 59 32 16 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.282398453 1.141199226 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 4.16E-43 1 8.51E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 131556932 G C GPR133 CCDS9272.1 r.? - - intronic 37 0 0 28 18 64.3 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.487427466 1.243713733 2 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 4.77E-35 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 131602047 C A GPR133 CCDS9272.1 r.? - - intronic 33 0 0 41 16 39 47 17 36.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.508704062 0.754352031 2 1.61247216 0.80623608 2 NA NA 1 NA NA 1 5 NA 1 1 1.4E-26 1 1.81E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 131756906 G C - - - - - - 22 0 0 37 14 37.8 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.462282398 1.462282398 1 1.723830735 0.861915367 2 NA NA 1 NA NA 1 5 NA 1 1 3.35E-23 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 132515884 C T EP400 CCDS31929.1 r.? - - intronic 33 0 0 46 14 30.4 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.176015474 1.176015474 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-21 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 133335488 C T ANKLE2 CCDS41869.1 r.? - - intronic 40 0 0 34 20 58.8 14 4 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.274661509 1.137330754 2 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-37 1 0.000000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 133763797 C T ZNF268 CCDS45012.1 r.? - - intronic 27 0 0 32 11 34.4 45 25 55.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.330754352 1.330754352 1 2.476614699 1.23830735 2 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 8.58E-46 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 19253344 T A - - - - - - 14 0 0 18 7 38.9 14 4 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.50483559 1.50483559 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 2.37E-12 1 0.000000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 19264229 C A - - - - - - 16 0 0 19 9 47.4 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.833655706 1.833655706 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 1.72E-16 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 19532848 C A - - - - - - 33 0 0 46 10 21.7 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.839458414 0.839458414 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-14 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 19594313 G C - - - - - - 35 0 0 48 8 16.7 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.708240535 0.708240535 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-10 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 19714582 C G - - - - - - 32 0 0 26 6 23.1 31 3 9.7 13 0 0 5 2 40 5 3 60 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.432071269 0.432071269 1 1.547388781 1.547388781 1 2.672605791 2.672605791 1 5 4 1 1 3.3E-09 0.000247509 0.000505952 0.00000124 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 19870978 G A - - - - - - 50 0 0 44 10 22.7 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 1.19376392 1.19376392 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 19924623 G A - - - - - - 31 0 0 28 6 21.4 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 19937108 G T - - - - - - 36 0 0 36 7 19.4 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 20716489 C T GJA3 CCDS9289.1 r.1116g>a c.939G>A p.K313K silent 34 0 0 34 7 20.6 1 0 0 146 0 0 222 67 30.2 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 0 0 1 1.16827853 1.16827853 1 NA NA 1 5 NA 1 1 3.73E-10 2.02E-97 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 20832234 A C - - - - - - 36 0 0 46 5 10.9 28 0 0 165 0 0 75 6 8 23 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.421663443 0.421663443 1 0 0 1 0.309477756 0.309477756 1 0 0 1 3 2 1 1 0.00000361 0.00000234 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 20949162 C G - - - - - - 40 0 0 48 9 18.8 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 21490155 C G - - - - - - 31 0 0 40 15 37.5 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-24 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 21506032 G C - - - - - - 38 0 0 44 10 22.7 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 21523634 C T - - - - - - 21 0 0 29 12 41.4 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.601547389 1.601547389 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 21533773 G A - - - - - - 31 0 0 40 11 27.5 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 22225311 A G - - - - - - 37 0 0 43 10 23.3 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 22308249 G A - - - - - - 40 0 0 43 12 27.9 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 22314011 C G - - - - - - 35 0 0 50 13 26 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.005802708 1.005802708 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 5 NA 1 1 3.65E-19 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 22683534 T A AL137248.1 ENST00000413646 r.? - - intronic 26 0 0 40 9 22.5 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.750556793 1.750556793 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 22853604 G A AL137248.1 ENST00000413646 r.? - - downstream 41 0 0 37 7 18.9 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 23163404 A T - - - - - - 32 0 0 28 6 21.4 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 23564304 C A - - - - - - 29 0 0 40 15 37.5 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-24 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 23573848 C G - - - - - - 32 0 0 38 9 23.7 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 23610280 G A - - - - - - 35 0 0 39 13 33.3 49 10 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.908685969 0.908685969 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 6.72E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 23734543 G T - - - - - - 16 0 0 40 9 22.5 4 1 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 0.019850499 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 23927738 G C SACS CCDS9300.2 r.? - - intronic 37 0 0 39 11 28.2 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 23929018 G A SACS CCDS9300.2 r.2322c>u c.1733C>T p.S578L missense 32 0 0 50 22 44 44 9 20.5 245 0 0 172 42 24.4 283 1 0.4 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.70212766 1.70212766 1 0.913140312 0.913140312 1 0.943907157 0.943907157 1 0.017817372 0.017817372 1 5 5 1 1 1.85E-37 2.83E-57 1.18E-12 0.757935083 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9776b 13 23934247 G C SACS CCDS9300.2 r.? - - intronic 30 0 0 41 13 31.7 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 23967945 G C SACS CCDS9300.2 r.? - - intronic 33 0 0 39 8 20.5 42 5 11.9 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.530066815 0.530066815 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 24322445 G A MIPEP CCDS9303.1 r.? - - intronic 27 0 0 45 13 28.9 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.305122494 1.305122494 1 NA NA 1 NA NA 1 5 NA 1 1 7.68E-20 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 24581032 A T - - - - - - 25 0 0 33 11 33.3 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 25160299 T A - - - - - - 24 0 0 36 11 30.6 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 25193000 C T - - - - - - 28 0 0 38 12 31.6 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 25198669 T A - - - - - - 23 0 0 37 11 29.7 21 3 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.14893617 1.14893617 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 25546881 A T - - - - - - 41 0 0 47 12 25.5 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 25561524 T A - - - - - - 27 0 0 40 11 27.5 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 25588950 G T - - - - - - 36 0 0 60 13 21.7 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.839458414 0.839458414 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.07E-18 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 25750296 G T FAM123A CCDS9312.1 r.? - - upstream 26 0 0 53 13 24.5 29 3 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.947775629 0.947775629 1 0.458797327 0.458797327 1 NA NA 1 NA NA 1 5 NA 1 1 8.53E-19 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 25900404 A C NUPL1 CCDS9314.1 r.? - - intronic 38 0 0 37 8 21.6 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 26217956 A G ATP8A2 CCDS41873.1 r.? - - intronic 44 0 0 37 8 21.6 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 26343635 G T ATP8A2 CCDS41873.1 r.? - - intronic 30 0 0 29 6 20.7 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.800773694 0.800773694 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 26494913 T C ATP8A2 CCDS41873.1 r.? - - intronic 32 0 0 34 8 23.5 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 26560183 G C ATP8A2 CCDS41873.1 r.? - - intronic 35 0 0 40 9 22.5 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 26781043 C A - - - - - - 39 0 0 47 10 21.3 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.823984526 0.823984526 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 27273011 T C - - - - - - 31 0 0 53 11 20.8 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 3.07E-15 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 27288007 T A - - - - - - 32 0 0 41 7 17.1 35 3 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 0.383073497 0.383073497 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 27476773 A T - - - - - - 27 0 0 42 13 31 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 2.72E-20 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 27901665 G A - - - - - - 37 0 0 31 8 25.8 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 1.590200445 1.590200445 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 27997350 C G GTF3A CCDS45019.1 r.? - - upstream 38 0 0 39 13 33.3 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 28274078 G A - - - - - - 37 0 0 34 8 23.5 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 28434271 G T AL390738.2 ENST00000499662 r.? - - intronic 34 0 0 39 7 17.9 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.135857461 1.135857461 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 28488577 T G AL390738.2 ENST00000499662 r.? - - intronic 36 0 0 44 10 22.7 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 28546441 C G CDX2 CCDS9328.1 r.? - - upstream 35 0 0 44 14 31.8 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.230174081 1.230174081 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 6.1E-22 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 28902468 G T FLT1 CCDS9330.1 r.? - - intronic 35 0 0 36 7 19.4 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 29119590 G T - - - - - - 36 0 0 38 7 18.4 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 29239110 C T POMP CCDS9331.1 r.? - - intronic 41 0 0 39 6 15.4 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 4.43E-08 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 29262549 C G - - - - - - 28 0 0 21 7 33.3 10 5 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 2.227171492 2.227171492 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-12 1 7.71E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 29329614 C T - - - - - - 28 0 0 46 16 34.8 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.34622824 1.34622824 1 1.429844098 1.429844098 1 NA NA 1 NA NA 1 5 NA 1 1 1.31E-25 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 29360634 G C - - - - - - 26 0 0 41 10 24.4 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 29396840 T A - - - - - - 48 0 0 41 6 14.6 38 3 7.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.564796905 0.564796905 1 0.351893096 0.351893096 1 NA NA 1 NA NA 1 5 NA 1 1 6.05E-08 1 0.000925091 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 29396843 A T - - - - - - 47 0 0 36 5 13.9 39 3 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.537717602 0.537717602 1 0.34298441 0.34298441 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000104 1 0.000998458 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 29396844 T A - - - - - - 49 0 0 39 5 12.8 39 3 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.49516441 0.49516441 1 0.34298441 0.34298441 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000156 1 0.000998458 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 29438803 A G - - - - - - 31 0 0 37 7 18.9 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 29584725 C T - - - - - - 29 0 0 33 9 27.3 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 29595766 G A MTUS2 CCDS45022.1 r.? - - upstream 26 0 0 33 8 24.2 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.930957684 0.930957684 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 29618884 A C MTUS2 CCDS45022.1 r.? - - intronic 34 0 0 34 13 38.2 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.477756286 1.477756286 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 29738088 A C MTUS2 CCDS45022.1 r.? - - intronic 19 0 0 33 12 36.4 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.408123791 1.408123791 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 29807303 G A MTUS2 CCDS45022.1 r.? - - intronic 33 0 0 46 17 37 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.431334623 1.431334623 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 1.16E-27 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 29886566 C A MTUS2 CCDS45022.1 r.? - - intronic 38 0 0 38 9 23.7 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 29922714 T A MTUS2 CCDS45022.1 r.? - - intronic 33 0 0 34 7 20.6 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 30285752 A G - - - - - - 18 0 0 41 17 41.5 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.605415861 1.605415861 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-28 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 30442585 G A - - - - - - 35 0 0 34 12 35.3 53 11 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.3655706 1.3655706 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 3.07E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 30586128 C A - - - - - - 30 0 0 31 13 41.9 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.620889749 1.620889749 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 30653564 T A - - - - - - 13 0 0 38 15 39.5 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.528046422 1.528046422 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-25 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 31124455 A C HMGB1 CCDS9335.1 r.? - - intronic 38 0 0 39 9 23.1 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 31242648 A G - - - - - - 40 0 0 31 7 22.6 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 31280590 A G - - - - - - 15 0 0 30 9 30 28 3 10.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 0.476614699 0.476614699 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 31544396 G A C13orf26 CCDS9339.1 r.? - - intronic 21 0 0 32 10 31.2 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 31662062 A G - - - - - - 30 0 0 47 14 29.8 44 14 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.152804642 1.152804642 1 1.416481069 1.416481069 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 31706151 C T HSPH1 CCDS9340.1 r.? - - downstream 32 0 0 41 14 34.1 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 1.407572383 1.407572383 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-22 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 31976039 G C - - - - - - 34 0 0 49 7 14.3 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 5.58E-09 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 32058872 T A - - - - - - 26 0 0 30 8 26.7 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 32503485 G C - - - - - - 45 0 0 39 5 12.8 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.49516441 0.49516441 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000156 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 32677468 G C FRY CCDS41875.1 r.? - - intronic 29 0 0 56 15 26.8 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 4.09E-22 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 33431463 A C - - - - - - 34 0 0 41 12 29.3 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 33470447 T A - - - - - - 25 0 0 44 14 31.8 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.230174081 1.230174081 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 6.1E-22 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 33663636 C T - - - - - - 37 0 0 36 10 27.8 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 34046921 T A - - - - - - 33 0 0 35 8 22.9 45 13 28.9 141 0 0 70 8 11.4 45 3 6.7 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 1.287305122 1.287305122 1 0.441005803 0.441005803 1 0.29844098 0.29844098 1 5 5 1 1 8.15E-12 2.8E-09 7.68E-20 0.001516071 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 13 34046932 C A - - - - - - 39 0 0 35 9 25.7 40 13 32.5 153 0 0 80 10 12.5 45 3 6.7 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 1.44766147 1.44766147 1 0.483558994 0.483558994 1 0.29844098 0.29844098 1 5 5 1 1 1.23E-13 1.17E-11 1.3E-20 0.001516071 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 13 34047017 C G - - - - - - 42 0 0 35 10 28.6 29 7 24.1 165 0 0 95 21 22.1 45 3 6.7 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.073496659 1.073496659 1 0.854932302 0.854932302 1 0.29844098 0.29844098 1 5 5 1 1 1.6E-15 2.05E-28 1.11E-10 0.001516071 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 13 34047973 C G - - - - - - 38 0 0 43 17 39.5 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.528046422 1.528046422 1 0.708240535 0.708240535 1 NA NA 1 NA NA 1 5 NA 1 1 2.84E-28 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 34047998 C G - - - - - - 33 0 0 35 13 37.1 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.435203095 1.435203095 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 34570946 G C - - - - - - 37 0 0 30 8 26.7 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 34632698 C A - - - - - - 33 0 0 26 9 34.6 21 7 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.338491296 1.338491296 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 8.54E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 34667945 C G - - - - - - 34 0 0 38 11 28.9 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 34713392 C G - - - - - - 29 0 0 34 6 17.6 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-08 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 34911602 A T - - - - - - 28 0 0 40 5 12.5 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000178 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 35064715 G A - - - - - - 26 0 0 30 7 23.3 36 3 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 35087561 C T - - - - - - 37 0 0 46 15 32.6 37 3 8.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 0.360801782 0.360801782 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-23 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 35204540 A G - - - - - - 44 0 0 43 10 23.3 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 35255813 C A - - - - - - 30 0 0 43 15 34.9 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.350096712 1.350096712 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 4.05E-24 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 35520137 G C NBEA CCDS45026.1 r.? - - intronic 42 0 0 35 7 20 30 3 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 35997555 A G NBEA CCDS45026.1 r.? - - intronic 33 0 0 31 8 25.8 26 2 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 0.34298441 0.34298441 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 36224822 A T NBEA CCDS45026.1 r.? - - intronic 36 0 0 40 8 20 48 12 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 36234501 T A NBEA CCDS45026.1 r.? - - intronic 39 0 0 33 13 39.4 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.52417795 1.52417795 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 36526472 G C DCLK1 CCDS9354.1 r.? - - intronic 28 0 0 29 9 31 32 3 9.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 0.418708241 0.418708241 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 36590545 G T DCLK1 CCDS9354.1 r.? - - intronic 38 0 0 39 10 25.6 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.670378619 1.670378619 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 36670110 T G DCLK1 CCDS9354.1 r.? - - intronic 32 0 0 34 11 32.4 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 36788928 C T SOHLH2 CCDS9355.1 r.? - - upstream 32 0 0 38 8 21.1 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 36957946 G C - - - - - - 24 0 0 38 16 42.1 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.628626692 1.628626692 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 3.06E-27 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 37161370 C A - - - - - - 30 0 0 39 11 28.2 33 9 27.3 0 0 NA 1 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 1.216035635 1.216035635 1 0 0 1 NA NA 1 5 NA 1 1 7.2E-17 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 37236746 T C - - - - - - 34 0 0 38 7 18.4 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 37307481 A C - - - - - - 40 0 0 38 9 23.7 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 37327659 G C - - - - - - 56 0 0 44 11 25 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 37405940 G T RFXAP CCDS9359.1 r.? - - downstream 30 0 0 42 12 28.6 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 37819054 T C - - - - - - 33 0 0 38 9 23.7 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 37922137 G A - - - - - - 47 0 0 46 12 26.1 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.00967118 1.00967118 1 0.579064588 0.579064588 1 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 37938593 A T - - - - - - 32 0 0 47 9 19.1 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.738878143 0.738878143 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-12 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 37973625 C A - - - - - - 33 0 0 42 10 23.8 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 38041395 T C - - - - - - 38 0 0 45 11 24.4 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-16 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 38049670 C A - - - - - - 27 0 0 34 8 23.5 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 38265443 G A TRPC4 CCDS45037.1 r.? - - intronic 29 0 0 35 14 40 46 13 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.547388781 1.547388781 1 1.260579065 1.260579065 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-23 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 38344933 G A TRPC4 CCDS45037.1 r.? - - intronic 33 0 0 36 10 27.8 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 38492938 T A - - - - - - 31 0 0 36 7 19.4 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 38542018 C A - - - - - - 44 0 0 29 12 41.4 51 14 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.601547389 1.601547389 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 6.64E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 38988344 G A - - - - - - 35 0 0 37 11 29.7 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.14893617 1.14893617 1 0.605790646 0.605790646 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 39287099 T G FREM2 CCDS31960.1 r.? - - intronic 43 0 0 23 9 39.1 47 14 29.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.512572534 1.512572534 1 1.327394209 1.327394209 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 1.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 39353144 T G FREM2 CCDS31960.1 r.? - - intronic 39 0 0 56 12 21.4 37 14 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.683741648 1.683741648 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-16 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 40059311 T A LHFP CCDS9369.1 r.? - - intronic 36 0 0 30 7 23.3 48 6 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 0.00000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 40271795 C T COG6 CCDS45042.1 r.? - - intronic 35 0 0 38 14 36.8 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.423597679 1.423597679 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 40285244 C T COG6 CCDS45042.1 r.? - - intronic 34 0 0 40 6 15 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.580270793 0.580270793 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-08 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 40350510 A C COG6 CCDS45042.1 r.? - - intronic 30 0 0 46 11 23.9 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.924564797 0.924564797 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 5.55E-16 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 40436307 A T - - - - - - 40 0 0 33 13 39.4 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.52417795 1.52417795 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 40745938 G T - - - - - - 30 0 0 39 11 28.2 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 41295401 C G - - - - - - 27 0 0 37 7 18.9 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 42564030 C T - - - - - - 31 0 0 20 5 25 18 9 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.727171492 1.727171492 1 NA NA 1 NA NA 1 5 NA 1 1 4.55E-08 1 9.12E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 42608886 G A - - - - - - 35 0 0 31 9 29 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 43073872 C T - - - - - - 33 1 3 30 15 50 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 0.915400891 0.915400891 1 NA NA 1 NA NA 1 5 NA 0.15245715 1 4.41E-27 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 43626309 C A DNAJC15 CCDS9388.1 r.? - - intronic 24 0 0 23 4 17.4 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.49911412 0.49911412 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000513 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 43817066 G T ENOX1 CCDS9389.1 r.? - - intronic 30 0 0 24 13 54.2 18 5 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.554711799 1.554711799 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 2.9E-24 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 44898904 T A - - - - - - 20 0 0 25 16 64 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.83582205 1.83582205 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.99E-31 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 46104792 A T COG3 CCDS9398.1 r.? - - intronic 44 0 0 28 7 25 23 8 34.8 129 0 0 58 30 51.7 51 6 11.8 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.202111359 1.202111359 1 1.483 1.483 1 0.407612472 0.407612472 1 5 5 1 1 8.44E-11 2.36E-53 1.79E-13 0.000000232 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 13 46104834 C T COG3 CCDS9398.1 r.2488c>u c.2376C>T p.V792V silent 29 0 0 28 6 21.4 28 10 35.7 163 0 0 70 34 48.6 69 9 13 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.613852998 0.613852998 1 1.233200445 1.233200445 1 1.394077369 1.394077369 1 0.449064588 0.449064588 1 5 5 1 1 5.36E-09 5.33E-59 1.18E-16 8.45E-11 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 13 46120233 G T FAM194B CCDS45045.1 r.? - - intronic 37 0 0 29 12 41.4 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 47842628 A T - - - - - - 39 0 0 39 14 35.9 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.029781431 1.029781431 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 47908462 G C - - - - - - 19 0 0 39 14 35.9 13 5 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.029781431 1.029781431 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 3.89E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 47938744 T A - - - - - - 30 0 0 33 11 33.3 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 48102488 G A - - - - - - 35 0 0 28 6 21.4 19 3 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.613852998 0.613852998 1 0.545786192 0.545786192 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 48978480 C A RB1 CCDS31973.1 r.? - - intronic 32 0 0 29 5 17.2 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.493377176 0.493377176 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000336 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 50006562 G T CAB39L CCDS9416.2 r.? - - intronic 29 0 0 46 10 21.7 29 13 44.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.622458414 0.622458414 1 1.547545657 1.547545657 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-14 1 7.69E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 50191239 G T - - - - - - 29 0 0 22 8 36.4 25 4 16 0 0 NA 2 0 0 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 0.552694878 0.552694878 1 0 0 1 NA NA 1 5 NA 1 1 1.17E-13 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 51102958 C T - - - - - - 35 0 0 38 14 36.8 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.055597679 1.055597679 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 51110969 G T - - - - - - 24 0 0 38 12 31.6 17 2 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.906437137 0.906437137 1 0.407612472 0.407612472 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 0.003234386 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 51356777 C A DLEU7 ENST00000400393 r.? - - intronic 41 0 0 26 8 30.8 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 0.711594655 0.711594655 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 51609629 G A GUCY1B2 ENST00000389600 r.? - - intronic 35 0 0 25 8 32 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 51612890 G C GUCY1B2 ENST00000389600 r.? - - intronic 38 0 0 23 7 30.4 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.872015474 0.872015474 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-11 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 52062257 G C - - - - - - 15 0 0 30 10 33.3 32 13 40.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.402463252 1.402463252 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 52310981 G C WDFY2 CCDS9429.1 r.? - - intronic 34 0 0 31 4 12.9 33 1 3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.370032882 0.370032882 1 0.10363029 0.10363029 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000177 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 52914748 G A - - - - - - 44 0 0 27 11 40.7 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 53314005 C G LECT1 CCDS45051.1 r.? - - upstream 25 0 0 23 10 43.5 16 5 31.2 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.2477853 1.2477853 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 1.05E-17 1 0.000000013 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 53383574 C T MIR759 ENST00000390224 r.? - - upstream 31 0 0 42 6 14.3 22 0 0 131 0 0 86 8 9.3 42 2 4.8 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.410191489 0.410191489 1 0 0 1 0.266767892 0.266767892 1 0.165808463 0.165808463 1 3 2 1 1 7.02E-08 1.47E-08 1 0.018854633 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9776b 13 53733329 T A - - - - - - 23 0 0 26 11 42.3 17 7 41.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.42318931 1.42318931 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 1.45E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 54051794 C T - - - - - - 24 0 0 26 7 26.9 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.771618956 0.771618956 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 54153263 G C - - - - - - 39 0 0 22 8 36.4 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-13 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 55014343 C A - - - - - - 41 0 0 13 5 38.5 22 3 13.6 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 0.469790646 0.469790646 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-09 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 55287110 G A - - - - - - 38 0 0 26 9 34.6 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 55582912 C G - - - - - - 37 0 0 22 7 31.8 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 0.970670379 0.970670379 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 55708319 T A - - - - - - 32 0 0 21 10 47.6 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.36539265 1.36539265 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.28E-18 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 55842526 G C - - - - - - 37 0 0 30 13 43.3 21 9 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.242048356 1.242048356 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 5.44E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 56011653 C A - - - - - - 35 0 0 28 13 46.4 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.330970986 1.330970986 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 4.26E-23 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 56192712 T G - - - - - - 32 0 0 19 9 47.4 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.359655706 1.359655706 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.72E-16 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 56462043 A T - - - - - - 40 0 0 35 8 22.9 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.656880077 0.656880077 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 57000962 G T - - - - - - 34 0 0 28 10 35.7 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 58467604 C T - - - - - - 42 0 0 21 10 47.6 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.36539265 1.36539265 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 3.28E-18 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 59035637 T C - - - - - - 29 0 0 29 14 48.3 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.385471954 1.385471954 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 4.41E-25 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 59133576 C T - - - - - - 43 0 0 31 11 35.5 30 15 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 1.727171492 1.727171492 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 4.41E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 59139572 C G - - - - - - 33 0 0 35 11 31.4 30 3 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.900700193 0.900700193 1 0.345434298 0.345434298 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 59302943 G C - - - - - - 39 0 0 33 17 51.5 25 12 48 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.477263056 1.477263056 1 1.658084633 1.658084633 1 NA NA 1 NA NA 1 5 NA 1 1 8.25E-31 1 1.2E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 60334134 G C DIAPH3 CCDS41898.1 r.? - - intronic 34 0 0 31 10 32.3 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 61000007 C T TDRD3 CCDS9441.1 r.? - - intronic 30 0 0 29 12 41.4 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 1.084663697 1.084663697 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 61043832 C T TDRD3 CCDS9441.1 r.? - - intronic 35 0 0 30 13 43.3 23 3 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.242048356 1.242048356 1 0.449064588 0.449064588 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 61048667 G C TDRD3 CCDS9441.1 r.? - - intronic 40 0 0 34 12 35.3 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.0125706 1.0125706 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 61156986 G C - - - - - - 30 0 0 33 8 24.2 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.694170213 0.694170213 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 61565380 T C - - - - - - 41 0 0 29 14 48.3 29 11 37.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.385471954 1.385471954 1 1.309195991 1.309195991 1 NA NA 1 NA NA 1 5 NA 1 1 4.41E-25 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 61876657 G A - - - - - - 30 0 0 27 10 37 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 62139149 T A - - - - - - 29 0 0 37 11 29.7 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.85193617 0.85193617 1 1.115752784 1.115752784 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 62467788 A T - - - - - - 33 0 0 33 13 39.4 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.13017795 1.13017795 1 0.718503341 0.718503341 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 62487430 C G - - - - - - 35 0 0 29 11 37.9 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 62586488 A C - - - - - - 35 0 0 37 10 27 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.774487427 0.774487427 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 62630412 T C - - - - - - 27 0 0 35 8 22.9 26 0 0 135 0 0 66 7 10.6 212 0 0 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.656880077 0.656880077 1 0 0 1 0.304058027 0.304058027 1 0 0 1 3 2 1 1 8.15E-12 0.000000047 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9776b 13 62690203 T C - - - - - - 42 0 0 36 11 30.6 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.877752418 0.877752418 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 62813936 T A - - - - - - 42 0 0 29 8 27.6 18 10 55.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 1.920614699 1.920614699 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 4.12E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 64003193 C A - - - - - - 40 0 0 33 10 30.3 30 14 46.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 1.613178174 1.613178174 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 8.24E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 64048520 G A - - - - - - 31 0 0 19 9 47.4 23 3 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.359655706 1.359655706 1 0.449064588 0.449064588 1 NA NA 1 NA NA 1 5 NA 1 1 1.72E-16 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 64869508 G C - - - - - - 30 0 0 24 5 20.8 31 8 25.8 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.596642166 0.596642166 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 65465163 G T - - - - - - 34 0 0 29 12 41.4 23 9 39.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 1.350648107 1.350648107 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 1.5E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 65636448 G A - - - - - - 26 0 0 38 13 34.2 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.981017408 0.981017408 1 1.115752784 1.115752784 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 65683286 C T - - - - - - 44 0 0 32 9 28.1 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.806040619 0.806040619 1 1.001759465 1.001759465 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 66172435 C A - - - - - - 30 0 0 29 9 31 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 67348181 A T PCDH9 CCDS9443.1 r.? - - intronic 30 0 0 26 6 23.1 21 7 33.3 1 0 0 0 0 NA 2 1 50 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.662617021 0.662617021 1 1.150296214 1.150296214 1 NA NA 1 1.727171492 1.727171492 1 5 NA 1 1 3.3E-09 1 8.54E-12 0.009975 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 67417078 A T PCDH9 CCDS9443.1 r.? - - intronic 34 0 0 30 11 36.7 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 67550274 G A PCDH9 CCDS9443.1 r.? - - intronic 31 0 0 26 9 34.6 17 5 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 1.84E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 68100272 G T - - - - - - 25 0 0 28 11 39.3 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.127309478 1.127309478 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 68110162 G A - - - - - - 34 0 0 26 6 23.1 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.662617021 0.662617021 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 5 NA 1 1 3.3E-09 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 68375198 A C - - - - - - 42 0 0 20 5 25 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.670142539 0.670142539 1 NA NA 1 NA NA 1 5 NA 1 1 4.55E-08 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 68518884 G T - - - - - - 38 0 0 28 13 46.4 27 13 48.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.330970986 1.330970986 1 1.661538976 1.661538976 1 NA NA 1 NA NA 1 5 NA 1 1 4.26E-23 1 2.29E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 68592670 T G - - - - - - 35 0 0 30 8 26.7 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 68834481 C T - - - - - - 35 0 0 25 8 32 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 0.887766147 0.887766147 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 69295192 T A - - - - - - 35 0 0 29 6 20.7 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.593773694 0.593773694 1 1.357556793 1.357556793 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 69350807 T G - - - - - - 31 0 0 33 10 30.3 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 0.915400891 0.915400891 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 69749407 G A - - - - - - 28 0 0 25 11 44 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.26212766 1.26212766 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 2.04E-19 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 70394526 C A KLHL1 CCDS9445.1 r.? - - intronic 36 0 0 28 7 25 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.202111359 1.202111359 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 70696800 T C - - - - - - 47 0 0 38 12 31.6 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.906437137 0.906437137 1 1.278106904 1.278106904 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 70984898 T C - - - - - - 35 0 0 23 7 30.4 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.872015474 0.872015474 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-11 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 71922231 G C - - - - - - 33 0 0 22 10 45.5 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 0.780681514 0.780681514 1 NA NA 1 NA NA 1 5 NA 1 1 5.98E-18 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 71966385 A T - - - - - - 34 0 0 35 10 28.6 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 72251275 A C DACH1 ENST00000305425 r.? - - intronic 26 0 0 18 8 44.4 33 16 48.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.273601547 1.273601547 1 1.675356347 1.675356347 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-14 1 1.64E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 72499176 G A - - - - - - 36 0 0 31 16 51.6 19 3 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.480131528 1.480131528 1 0.545786192 0.545786192 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-29 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 72503998 A T - - - - - - 43 0 0 28 7 25 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.226291759 1.226291759 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 72640188 G T - - - - - - 33 0 0 37 14 37.8 18 5 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.084282398 1.084282398 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-23 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 73091160 A G - - - - - - 32 0 0 30 13 43.3 28 13 46.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.242048356 1.242048356 1 1.602815145 1.602815145 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 4.26E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 73165201 G T - - - - - - 34 0 0 23 9 39.1 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 73168731 C T - - - - - - 29 0 0 25 11 44 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.26212766 1.26212766 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 2.04E-19 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 73302829 T C C13orf34 CCDS9446.1 r.? - 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- - - - - 33 0 0 26 10 38.5 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 1.278106904 1.278106904 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 78966965 T A - - - - - - 40 0 0 30 11 36.7 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 79534537 C G - - - - - - 33 0 0 31 10 32.3 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 79562720 A G - - - - - - 30 0 0 23 8 34.8 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 80075139 C T NDFIP2 CCDS31998.1 r.? - - intronic 34 0 0 17 6 35.3 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.0125706 1.0125706 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 1.84E-10 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 80270948 A C - - - - - - 27 1 3.7 34 11 32.4 29 12 41.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 1.430097996 1.430097996 1 NA NA 1 NA NA 1 5 NA 0.126579904 1 1.26E-17 1 1.17E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 80493093 G T - - - - - - 31 0 0 18 5 27.8 37 15 40.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.797435203 0.797435203 1 1.399008909 1.399008909 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-08 1 2.58E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 80713173 A C - - - - - - 36 0 0 38 14 36.8 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.055597679 1.055597679 1 0.618327394 0.618327394 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 81438549 T C - - - - - - 37 0 0 25 9 36 33 3 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 0.314345212 0.314345212 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 81544755 A C - - - - - - 37 0 0 29 13 44.8 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.285075435 1.285075435 1 0.718503341 0.718503341 1 NA NA 1 NA NA 1 5 NA 1 1 7.69E-23 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 81673401 C T - - - - - - 31 0 0 37 14 37.8 23 7 30.4 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.084282398 1.084282398 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-23 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 81936930 G A - - - - - - 30 0 0 36 12 33.3 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.915400891 0.915400891 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 82512848 T G - 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- - - - - 35 0 0 34 15 44.1 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.264996132 1.264996132 1 1.115752784 1.115752784 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-26 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 87343763 G A - - - - - - 32 0 0 30 9 30 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 87731479 G A - - - - - - 34 0 0 37 16 43.2 14 5 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.239179884 1.239179884 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 1.78E-27 1 6.03E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 88452228 A T - - - - - - 42 0 0 15 7 46.7 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.339576402 1.339576402 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-13 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 88986780 C T - - - - - - 36 0 0 24 13 54.2 32 13 40.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.554711799 1.554711799 1 1.402463252 1.402463252 1 NA NA 1 NA NA 1 5 NA 1 1 2.9E-24 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 89482834 G T - - - - - - 35 0 0 31 6 19.4 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.556483559 0.556483559 1 0.576875278 0.576875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-08 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 89675368 G T - - - - - - 34 0 0 37 14 37.8 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.084282398 1.084282398 1 0.708140312 0.708140312 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-23 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 90482210 G T - - - - - - 49 0 0 27 10 37 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 90681442 G C - - - - - - 28 0 0 31 11 35.5 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 0.970670379 0.970670379 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 90775141 C T - - - - - - 41 0 0 29 10 34.5 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 1.226291759 1.226291759 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 91134038 C G - - - - - - 33 0 0 32 11 34.4 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.986754352 0.986754352 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 91556024 C T - - - - - - 37 0 0 27 10 37 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 91899448 G C - - - - - - 33 0 0 31 12 38.7 22 4 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.110098646 1.110098646 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 91929671 C G - - - - - - 43 0 0 28 11 39.3 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.127309478 1.127309478 1 0.839405345 0.839405345 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 92079944 G C GPC5 CCDS9468.1 r.? - - intronic 32 0 0 26 11 42.3 25 11 44 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.519910913 1.519910913 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 2.04E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 92093877 G T GPC5 CCDS9468.1 r.? - - intronic 48 0 0 32 8 25 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 92093878 G T GPC5 CCDS9468.1 r.? - - intronic 46 0 0 32 8 25 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.226291759 1.226291759 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 92144996 A T GPC5 CCDS9468.1 r.? - - intronic 40 0 0 34 7 20.6 23 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.590905222 0.590905222 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.73E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 92668523 A G GPC5 CCDS9468.1 r.? - - intronic 61 0 0 19 8 42.1 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.207626692 1.207626692 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.81E-14 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 93223740 A C GPC5 CCDS9468.1 r.? - - intronic 39 0 0 26 10 38.5 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 93427256 C A GPC5 CCDS9468.1 r.? - - intronic 37 0 0 29 13 44.8 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.285075435 1.285075435 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 7.69E-23 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 93577539 C G - - - - - - 36 0 0 27 11 40.7 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 93748800 C T - - - - - - 28 0 0 14 6 42.9 20 2 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 0.345434298 0.345434298 1 NA NA 1 NA NA 1 5 NA 1 1 4.53E-11 1 0.004473894 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 93932174 G A GPC6 CCDS9469.1 r.? - - intronic 35 0 0 36 10 27.8 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.797435203 0.797435203 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 94158906 C A GPC6 CCDS9469.1 r.? - - intronic 36 0 0 25 10 40 20 5 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 94240534 T C GPC6 CCDS9469.1 r.? - - intronic 37 0 0 27 11 40.7 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 94366371 A C GPC6 CCDS9469.1 r.? - - intronic 43 0 0 35 10 28.6 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.202111359 1.202111359 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 94658754 T A GPC6 CCDS9469.1 r.? - - intronic 38 0 0 32 10 31.2 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 1.278106904 1.278106904 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 94925364 G T GPC6 CCDS9469.1 r.? - 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- - - - - 30 0 0 36 18 50 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-32 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 98597577 G A - - - - - - 23 0 0 30 9 30 18 4 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 0.00000181 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 98609054 C A IPO5 CCDS31999.1 r.? - - intronic 39 0 0 23 8 34.8 41 16 39 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 1.347193764 1.347193764 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 1.4E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 100058821 G T - - - - - - 25 0 0 23 4 17.4 23 10 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.49911412 0.49911412 1 1.502639198 1.502639198 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000513 1 1.05E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 100206153 G A TM9SF2 CCDS9493.1 r.? - - intronic 35 0 0 24 6 25 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.057028953 1.057028953 1 NA NA 1 NA NA 1 5 NA 1 1 1.95E-09 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 100239091 A G - - - - - - 29 0 0 27 7 25.9 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.742934236 0.742934236 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 6.36E-11 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 100325483 A C CLYBL ENST00000376360 r.? - - intronic 24 0 0 30 11 36.7 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 101250778 G T - - - - - - 31 0 0 25 7 28 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 101544548 C G - - - - - - 39 0 0 38 14 36.8 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.055597679 1.055597679 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 101773083 G T NALCN CCDS9498.1 r.? - - intronic 41 0 0 21 15 71.4 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 2.048088975 2.048088975 1 0.839405345 0.839405345 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-30 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 102245004 A T ITGBL1 CCDS9499.1 r.? - - intronic 47 0 0 28 8 28.6 23 9 39.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.350648107 1.350648107 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 1.5E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 102580405 A G FGF14 CCDS9500.1 r.? - - intronic 21 0 0 24 7 29.2 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 102675310 A T FGF14 CCDS9500.1 r.? - - intronic 27 0 0 23 10 43.5 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.2477853 1.2477853 1 0.749592428 0.749592428 1 NA NA 1 NA NA 1 5 NA 1 1 1.05E-17 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 103229405 G C - - - - - - 37 0 0 31 10 32.3 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 103341281 A C C13orf39 CCDS32003.1 r.? - - intronic 27 0 0 35 12 34.3 29 12 41.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.98388588 0.98388588 1 1.430097996 1.430097996 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 1.17E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 103690292 C T - - - - - - 27 0 0 45 20 44.4 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.273601547 1.273601547 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-34 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 104056070 A T - - - - - - 31 0 0 25 10 40 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 104204511 T A - - - - - - 32 1 3.1 22 10 45.5 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 0.14819814 1 5.98E-18 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 104377598 G T - - - - - - 45 0 0 35 11 31.4 43 14 32.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.900700193 0.900700193 1 1.126115813 1.126115813 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 4.18E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 104544512 G C - - - - - - 36 0 0 25 4 16 24 9 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.458955513 0.458955513 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000727 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 104593120 G T - - - - - - 33 0 0 27 8 29.6 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 1.219383073 1.219383073 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 105453624 A C - - - - - - 33 0 0 37 12 32.4 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 105608005 C T - - - - - - 31 0 0 29 12 41.4 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 106067987 T A - - - - - - 36 0 0 40 13 32.5 34 13 38.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.932253385 0.932253385 1 1.31955902 1.31955902 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 1.03E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 106707155 T C - - - - - - 41 0 0 33 7 21.2 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.608116054 0.608116054 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 106714886 C A - - - - - - 28 0 0 33 9 27.3 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 107012036 G T - - - - - - 39 0 0 26 7 26.9 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.771618956 0.771618956 1 0.493971047 0.493971047 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 107113797 G T - - - - - - 31 0 0 30 10 33.3 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.974124722 0.974124722 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 107356205 C G - - - - - - 34 0 0 30 9 30 36 7 19.4 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 0.670142539 0.670142539 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 107937146 G T FAM155A CCDS32006.1 r.? - - intronic 36 0 0 32 8 25 14 3 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 0.0000437 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 108118784 G T FAM155A CCDS32006.1 r.? - - intronic 34 0 0 32 10 31.2 22 7 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 1.098481069 1.098481069 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 109359369 A G MYO16 CCDS32008.1 r.? - - intronic 34 0 0 28 13 46.4 24 3 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.330970986 1.330970986 1 0.431792873 0.431792873 1 NA NA 1 NA NA 1 5 NA 1 1 4.26E-23 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 109557166 G C MYO16 CCDS32008.1 r.? - - intronic 39 0 0 31 10 32.3 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 1.219383073 1.219383073 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 110150104 T G - - - - - - 33 0 0 26 9 34.6 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 111272387 C G CARKD CCDS9513.1 r.? - - intronic 23 0 0 37 5 13.5 18 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.387243714 0.387243714 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000119 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 112931082 G T AL162499.3 ENST00000503344 r.? - - upstream 27 0 0 38 10 26.3 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.754408124 0.754408124 1 1.115752784 1.115752784 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 113239594 G T TUBGCP3 CCDS9525.1 r.? - - intronic 39 0 0 30 9 30 44 15 34.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 1.177930958 1.177930958 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 113444631 T C ATP11A CCDS32011.1 r.? - - intronic 37 0 0 24 10 41.7 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 1.8E-17 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 113688543 C G MCF2L CCDS9527.2 r.? - - intronic 22 0 0 43 25 58.1 34 16 47.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.247582205 1.123791103 2 2.097995546 1.048997773 2 NA NA 1 NA NA 1 5 NA 1 1 1.66E-46 1 3.09E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 113809236 T C PROZ CCDS9531.1 r.? - - upstream 29 0 0 35 20 57.1 35 16 45.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.208897485 1.104448743 2 2.035634744 1.017817372 2 NA NA 1 NA NA 1 5 NA 1 1 2.88E-37 1 5.66E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 114229835 T C - 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- - - - - 63 0 0 61 10 16.4 69 8 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.896217741 1.895406075 1 1 0 0 0.103782259 0.104593925 1 1 1 1 0.896217741 0.895406075 0.61740911 0.688905253 0.896217741 0.504570891 0.563510685 0.895406075 NA NA 1 NA NA 1 5 NA 1 1 6.98E-13 1 2.49E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 19474994 G T - - - - - - 35 0 0 41 12 29.3 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.896217741 1.895406075 1 1 0 0 0.103782259 0.104593925 1 1 1 1 0.896217741 0.895406075 1.10305408 1.10305408 1 1.122235257 1.122235257 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 20198747 T G ENSG00000232660 ENST00000426759 r.? - - downstream 63 0 0 60 14 23.3 66 15 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.896217741 1.895406075 1 1 0 0 0.103782259 0.104593925 1 1 1 1 0.896217741 0.895406075 0.877172699 0.877172699 1 0.987393037 0.987393037 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-20 1 6.45E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 20241696 G T - - - - - - 40 0 0 61 7 11.5 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.896217741 1.895406075 1 1 0 0 0.103782259 0.104593925 1 1 1 1 0.896217741 0.895406075 0.432939315 0.432939315 1 0.709009097 0.709009097 1 NA NA 1 NA NA 1 5 NA 1 1 2.69E-08 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 20401663 A C OR4K1 CCDS32025.1 r.? - - upstream 48 0 0 65 15 23.1 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.896217741 1.895406075 1 1 0 0 0.103782259 0.104593925 1 1 1 1 0.896217741 0.895406075 0.869643319 0.869643319 1 0.678560853 0.678560853 1 NA NA 1 NA NA 1 5 NA 1 1 5E-21 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 20541320 T A - - - - - - 39 0 0 36 5 13.9 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.896217741 1.895406075 1 1 0 0 0.103782259 0.104593925 1 1 1 1 0.896217741 0.895406075 0.523291868 0.523291868 1 1.409318695 1.409318695 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000104 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 20562469 C A - 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- intronic 39 0 0 29 6 20.7 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.593773694 0.593773694 1 0.53196882 0.53196882 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 23328155 C T - - - - - - 39 0 0 29 12 41.4 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 1.181385301 1.181385301 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 24075232 A T - - - - - - 26 0 0 22 7 31.8 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 24352659 A G - - - - - - 32 0 0 25 8 32 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 0.818679287 0.818679287 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 25576002 T A - - - - - - 36 0 0 27 11 40.7 20 5 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 25700170 C G - - - - - - 39 0 0 28 10 35.7 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 0.476699332 0.476699332 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 25903901 C A - - - - - - 42 0 0 18 7 38.9 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.11583559 1.11583559 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.37E-12 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 25983911 C A - - - - - - 42 0 0 36 14 38.9 31 10 32.3 0 0 NA 1 0 0 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.11583559 1.11583559 1 1.115752784 1.115752784 1 0 0 1 NA NA 1 5 NA 1 1 2.09E-23 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 26216197 C T - - - - - - 28 0 0 33 13 39.4 27 11 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.13017795 1.13017795 1 1.405917595 1.405917595 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 5.92E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 26285919 A C - - - - - - 40 0 0 29 7 24.1 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.691301741 0.691301741 1 1.267743875 1.267743875 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 26695675 T G - - - - - - 34 0 0 29 7 24.1 23 9 39.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.691301741 0.691301741 1 1.350648107 1.350648107 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 1.5E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 26771763 G A - - - - - - 29 0 0 30 11 36.7 31 13 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 1.44736971 1.44736971 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 2.32E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 27011261 A C ENSG00000248163 CCDS32061.1 r.? - - intronic 40 0 0 36 12 33.3 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 27378606 T C - - - - - - 36 0 0 33 11 33.3 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 27384228 C A - - - - - - 38 0 0 33 12 36.4 19 4 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 0.72886637 0.72886637 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 27857777 A T - - - - - - 44 0 0 20 7 35 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.003965184 1.003965184 1 0.511242762 0.511242762 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-12 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 28028432 A T - - - - - - 36 0 0 20 11 55 18 2 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.577659574 1.577659574 1 0.383432071 0.383432071 1 NA NA 1 NA NA 1 5 NA 1 1 7.87E-21 1 0.003626632 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 28343615 T A - - - - - - 30 0 0 30 13 43.3 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.242048356 1.242048356 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 28711612 A T - - - - - - 43 0 0 50 13 26 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.745802708 0.745802708 1 1.212474388 1.212474388 1 NA NA 1 NA NA 1 5 NA 1 1 3.65E-19 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 29164433 A C - - - - - - 46 0 0 31 10 32.3 20 5 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 29255049 G T C14orf23 ENST00000399387 r.? - - intronic 20 0 0 25 5 20 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000153 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 29355452 T C - - - - - - 30 0 0 33 16 48.5 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.391208897 1.391208897 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-28 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 29617925 A G - - - - - - 45 0 0 28 11 39.3 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.127309478 1.127309478 1 0.732320713 0.732320713 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 29641988 A T - - - - - - 31 1 3.2 30 10 33.3 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.970670379 0.970670379 1 NA NA 1 NA NA 1 5 NA 0.143917729 1 2.68E-16 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 30092185 T A PRKD1 CCDS9637.1 r.? - - intronic 48 0 0 28 6 21.4 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.613852998 0.613852998 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 30574748 C G - - - - - - 45 0 0 30 9 30 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 30921848 A C - - - - - - 33 0 0 33 9 27.3 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 0.639053452 0.639053452 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 31733164 G T - - - - - - 34 0 0 28 14 50 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.29E-25 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 32413445 G C - - - - - - 34 0 0 29 9 31 16 4 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 0.00000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 32998103 T G AKAP6 CCDS9644.1 r.? - - intronic 35 0 0 35 13 37.1 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.064203095 1.064203095 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 33661137 A T NPAS3 CCDS9645.1 r.? - - intronic 40 0 0 36 14 38.9 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.11583559 1.11583559 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 34557832 G C EGLN3 ENST00000487915 r.? - - intronic 27 0 0 34 13 38.2 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.095756286 1.095756286 1 1.115752784 1.115752784 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 34594381 A G EGLN3 ENST00000487915 r.? - - intronic 38 0 0 25 10 40 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 36301766 G C BRMS1L CCDS32066.1 r.? - - intronic 37 0 0 26 13 50 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-23 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 36473023 G T - - - - - - 32 0 0 41 16 39 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.118704062 1.118704062 1 1.267743875 1.267743875 1 NA NA 1 NA NA 1 5 NA 1 1 1.4E-26 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 36623997 G C - - - - - - 27 0 0 29 10 34.5 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 36652210 T A - - - - - - 17 0 0 21 6 28.6 18 6 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 7.95E-10 1 2.75E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 36959800 A T SFTA3 CCDS45097.1 r.? - - intronic 33 0 0 32 10 31.2 17 6 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 1.219383073 1.219383073 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 1.84E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 37213031 G A SLC25A21 CCDS9663.1 r.? - - intronic 48 0 0 25 8 32 24 9 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 37261801 G C SLC25A21 CCDS9663.1 r.? - - intronic 36 0 0 33 6 18.2 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 0.55614922 0.55614922 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 37498762 C T SLC25A21 CCDS9663.1 r.? - - intronic 26 0 0 26 9 34.6 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 38189076 T C AL136296.1 ENST00000363515 r.? - - upstream 35 0 0 31 10 32.3 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 38288089 G T TTC6 ENST00000478811 r.? - - intronic 26 0 0 38 6 15.8 22 1 4.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.453218569 0.453218569 1 0.155445434 0.155445434 1 NA NA 1 NA NA 1 3 NA 1 1 3.76E-08 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 39221719 G A - - - - - - 46 0 0 28 12 42.9 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 40181556 T C - - - - - - 39 0 0 34 11 32.4 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 40336969 G T - - - - - - 44 0 0 37 10 27 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.774487427 0.774487427 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 40447247 C A - - - - - - 32 0 0 24 10 41.7 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 0.835951002 0.835951002 1 NA NA 1 NA NA 1 5 NA 1 1 1.8E-17 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 40497908 C T - - - - - - 37 0 0 27 11 40.7 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 40964116 C G - - - - - - 27 0 0 34 16 47.1 23 9 39.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.35105029 1.35105029 1 1.350648107 1.350648107 1 NA NA 1 NA NA 1 5 NA 1 1 3.09E-28 1 1.5E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 41128687 A G - - - - - - 38 0 0 23 8 34.8 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 41342269 C A - - - - - - 32 0 0 29 11 37.9 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 1.267743875 1.267743875 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 41398875 A G - - - - - - 37 0 0 35 9 25.7 29 11 37.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.737197292 0.737197292 1 1.309195991 1.309195991 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 41773461 C A - - - - - - 35 0 0 26 15 57.7 18 8 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.655108317 1.655108317 1 1.533728285 1.533728285 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-28 1 1.63E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 42063239 C T - - - - - - 40 0 0 28 5 17.9 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.51345648 0.51345648 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000279 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 42426520 C T - - - - - - 33 0 0 35 13 37.1 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.064203095 1.064203095 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 42883033 G T - - - - - - 28 0 0 32 14 43.8 35 12 34.3 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.256390716 1.256390716 1 1.184839644 1.184839644 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 42883980 T A - - - - - - 36 0 0 22 5 22.7 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.651143133 0.651143133 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 7.67E-08 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 42962072 G C - - - - - - 37 0 0 32 13 40.6 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.164599613 1.164599613 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-22 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 43281958 T C - - - - - - 30 0 0 20 9 45 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.290812379 1.290812379 1 0.818679287 0.818679287 1 NA NA 1 NA NA 1 5 NA 1 1 3.12E-16 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 43549384 T G - - - - - - 30 0 0 27 9 33.3 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 43552915 A G - - - - - - 37 0 0 34 12 35.3 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.0125706 1.0125706 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 43588570 A G - - - - - - 27 0 0 26 5 19.2 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.550746615 0.550746615 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000188 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 43809782 G T - - - - - - 29 0 0 32 6 18.8 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.539272727 0.539272727 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 44136640 G C - - - - - - 26 0 0 21 9 42.9 24 9 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-16 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 44737112 T C - - - - - - 41 0 0 24 7 29.2 42 15 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 2.65E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 45006917 G T - - - - - - 38 0 0 29 15 51.7 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.483 1.483 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 2.22E-27 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 45335363 G T - - - - - - 25 0 0 32 15 46.9 22 9 40.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.345313346 1.345313346 1 1.412826281 1.412826281 1 NA NA 1 NA NA 1 5 NA 1 1 1.59E-26 1 9.16E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 45351537 C A - - - - - - 34 0 0 30 7 23.3 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.668353965 0.668353965 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 46584301 T A - - - - - - 30 0 0 26 14 53.8 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.543237911 1.543237911 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 5.57E-26 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 46746339 T C - - - - - - 34 0 0 26 11 42.3 23 11 47.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.651175947 1.651175947 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 6.25E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 47354087 T A MDGA2 CCDS41948.1 r.? - - intronic 34 0 0 25 14 56 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.606344294 1.606344294 1 1.267743875 1.267743875 1 NA NA 1 NA NA 1 5 NA 1 1 2.58E-26 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 47434190 G A MDGA2 CCDS41948.1 r.? - - intronic 22 0 0 27 7 25.9 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.742934236 0.742934236 1 1.202111359 1.202111359 1 NA NA 1 NA NA 1 5 NA 1 1 6.36E-11 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 47585105 T A MDGA2 CCDS41948.1 r.? - - intronic 31 0 0 33 11 33.3 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.046665924 1.046665924 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 48018163 G C MDGA2 CCDS45098.1 r.? - - intronic 35 0 0 32 13 40.6 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.164599613 1.164599613 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-22 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 48287454 G C - - - - - - 28 0 0 33 13 39.4 16 4 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.13017795 1.13017795 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 0.00000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 48492936 T C - - - - - - 36 0 0 23 12 52.2 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.49734236 1.49734236 1 0.552694878 0.552694878 1 NA NA 1 NA NA 1 5 NA 1 1 3.14E-22 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 49193701 T A - - - - - - 29 0 0 21 9 42.9 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-16 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 49287040 G C - - - - - - 27 0 0 24 7 29.2 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 50220472 A C KLHDC1 CCDS9692.1 r.? - - downstream 29 0 0 24 9 37.5 19 5 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.908492205 0.908492205 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 50333232 G C - - - - - - 37 0 0 29 9 31 28 12 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 6.9E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 50485804 T G - - - - - - 32 0 0 28 12 42.9 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 50567085 C T - - - - - - 29 0 0 30 11 36.7 36 13 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 1.247017817 1.247017817 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 51643164 T A - - - - - - 34 0 0 48 9 18.8 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.745936169 0.745936169 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 51643165 G T - - - - - - 34 0 0 48 8 16.7 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.662613512 0.662613512 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-10 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 52217064 T G - - - - - - 36 0 0 37 10 27 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.071291306 1.071291306 1 1.429844098 1.429844098 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 52433611 G A GNG2 CCDS32082.1 r.951g>a c.? p.? 3'UTR variant 24 0 0 27 6 22.2 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.880839519 0.880839519 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 4.23E-09 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 52446012 T C - - - - - - 27 0 0 47 9 19.1 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.757839406 0.757839406 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-12 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 52601119 A T - - - - - - 42 0 0 35 8 22.9 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.908613738 0.908613738 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 53016002 A T TXNDC16 CCDS32083.1 r.? - - intronic 40 0 0 50 15 30 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.190323674 1.190323674 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.83E-23 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 53088672 T G GPR137C CCDS45106.1 r.? - - intronic 38 0 0 31 10 32.3 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.281581822 1.281581822 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 53601302 C A DDHD1 CCDS9714.1 r.? - - intronic 18 0 0 36 7 19.4 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.769742642 0.769742642 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 53977300 A C - - - - - - 46 0 0 25 9 36 39 2 5.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.428388409 1.428388409 1 0.227171492 0.227171492 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 0.016387522 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 54078500 C G - - - - - - 34 0 0 38 9 23.7 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.940355702 0.940355702 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 54603480 G A - - - - - - 25 0 0 37 13 35.1 36 3 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.392678698 1.392678698 1 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 54974914 G T CGRRF1 CCDS9719.1 r.? - - upstream 48 0 0 44 13 29.5 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.170484946 1.170484946 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 55089636 T G SAMD4A CCDS32084.1 r.? - - intronic 35 0 0 38 11 28.9 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.146678472 1.146678472 1 1.305122494 1.305122494 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 55586528 C A - - - - - - 26 0 0 36 8 22.2 33 12 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.880839519 0.880839519 1 1.621380846 1.621380846 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 55730950 G A - - - - - - 36 0 0 36 10 27.8 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.103033271 1.103033271 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 55909555 A G TBPL2 CCDS9724.1 r.? - - upstream 42 0 0 40 9 22.5 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.892742755 0.892742755 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 56250125 C T - - - - - - 44 0 0 37 12 32.4 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.285549568 1.285549568 1 1.19376392 1.19376392 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 56497478 C G - - - - - - 33 0 0 43 8 18.6 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.738000678 0.738000678 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 56609645 C G PELI2 CCDS9726.1 r.? - - intronic 41 0 0 37 8 21.6 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.857033045 0.857033045 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 56706641 T A PELI2 CCDS9726.1 r.? - - intronic 28 0 0 32 6 18.8 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.745936169 0.745936169 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 56957018 C G - - - - - - 40 0 0 44 12 27.3 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.083194543 1.083194543 1 0.677060134 0.677060134 1 NA NA 1 NA NA 0 5 NA 1 1 4.44E-18 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 57002267 T G - - - - - - 38 0 0 42 6 14.3 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.567387618 0.567387618 1 1.113585746 1.113585746 1 NA NA 1 NA NA 0 5 NA 1 1 7.02E-08 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 57041795 G C C14orf101 CCDS9727.2 r.? - - upstream 29 0 0 38 6 15.8 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.626903802 0.626903802 1 1.069042316 1.069042316 1 NA NA 1 NA NA 0 5 NA 1 1 3.76E-08 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 57050913 G C C14orf101 CCDS9727.2 r.? - - intronic 31 0 0 30 10 33.3 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.321259278 1.321259278 1 0.819599109 0.819599109 1 NA NA 1 NA NA 0 5 NA 1 1 2.68E-16 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 57186054 G T - - - - - - 31 0 0 42 10 23.8 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.944323448 0.944323448 1 0.797327394 0.797327394 1 NA NA 1 NA NA 0 5 NA 1 1 1.24E-14 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 57432642 A C - - - - - - 42 0 0 44 8 18.2 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.722129695 0.722129695 1 1.634743875 1.634743875 1 NA NA 1 NA NA 0 5 NA 1 1 5.9E-11 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 57449376 A T - - - - - - 49 0 0 47 6 12.8 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.507871434 0.507871434 1 0.837416481 0.837416481 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000141 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 58075241 T G - - - - - - 31 0 0 40 13 32.5 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.289517313 1.289517313 1 0.810690423 0.810690423 1 NA NA 1 NA NA 0 5 NA 1 1 1.3E-20 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 58196980 A C - - - - - - 36 0 0 36 10 27.8 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.103033271 1.103033271 1 1.336302895 1.336302895 1 NA NA 1 NA NA 0 5 NA 1 1 2.21E-15 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 58236304 T A - - - - - - 37 0 0 52 20 38.5 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.527582048 1.38962858 1.099273626 1.06013363 1.06013363 1 NA NA 1 NA NA 0 5 NA 1 1 1.03E-32 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 58242113 G T - - - - - - 33 0 0 35 9 25.7 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.019710614 1.019710614 1 1.011135857 1.011135857 1 NA NA 1 NA NA 0 5 NA 1 1 1.23E-13 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 58242114 A T - - - - - - 35 0 0 35 9 25.7 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.019710614 1.019710614 1 1.011135857 1.011135857 1 NA NA 1 NA NA 0 5 NA 1 1 1.23E-13 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 58626334 A G - - - - - - 34 0 0 48 15 31.2 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.237936621 1.237936621 1 0.623608018 0.623608018 1 NA NA 1 NA NA 0 5 NA 1 1 2.86E-23 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 59082315 C T - - - - - - 32 0 0 42 9 21.4 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.849097554 0.849097554 1 0.846325167 0.846325167 1 NA NA 1 NA NA 0 5 NA 1 1 7.51E-13 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 59309872 G T - - - - - - 32 0 0 41 6 14.6 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.579290855 0.579290855 1 1.572383073 1.572383073 1 NA NA 1 NA NA 0 5 NA 1 1 6.05E-08 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 59445126 T A - - - - - - 35 0 0 29 11 37.9 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.503775575 1.503775575 1 0.930957684 0.930957684 1 NA NA 1 NA NA 0 5 NA 1 1 1.56E-18 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 59455111 C G - - - - - - 38 0 0 52 17 32.7 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.297452804 1.297452804 1 0.988864143 0.988864143 1 NA NA 1 NA NA 0 5 NA 1 1 1.42E-26 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 59902212 C A - - - - - - 42 0 0 50 11 22 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.872904027 0.872904027 1 0.71714922 0.71714922 1 NA NA 1 NA NA 0 5 NA 1 1 1.52E-15 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 59902213 A G - - - - - - 43 0 0 50 11 22 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.872904027 0.872904027 1 0.743875278 0.743875278 1 NA NA 1 NA NA 0 5 NA 1 1 1.52E-15 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 60288858 G C RTN1 CCDS9740.1 r.? - - intronic 39 0 0 39 9 23.1 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.916549229 0.916549229 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 60406623 G C - - - - - - 33 0 0 47 14 29.8 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.182388183 1.182388183 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 60522162 G A - - - - - - 27 0 0 48 9 18.8 43 10 23.3 143 0 0 82 19 23.2 269 26 9.7 TRUE TRUE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.745936169 0.745936169 1 1.037861915 1.037861915 1 0.920516974 0.920516974 1 0.432071269 0.432071269 1 5 5 1 1 2.75E-12 2.79E-26 1.61E-14 4.9E-25 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 14 60522359 C A - - - - - - 21 0 0 42 7 16.7 43 13 30.2 7 0 0 3 0 0 6 0 0 TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.662613512 0.662613512 1 1.345211581 1.345211581 1 0 0 1 0 NA 0 5 NA 1 1 1.81E-09 1 3.88E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 61594183 C A - - - - - - 32 0 0 35 9 25.7 41 13 31.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.019710614 1.019710614 1 1.412026726 1.412026726 1 NA NA 1 NA NA 0 5 NA 1 1 1.23E-13 1 1.89E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 61610547 A T - - - - - - 35 0 0 41 11 26.8 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.063355815 1.063355815 1 0.953229399 0.953229399 1 NA NA 1 NA NA 0 5 NA 1 1 1.34E-16 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 61729987 T G - - - - - - 43 0 0 46 12 26.1 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.035581596 1.035581596 1 1.140311804 1.140311804 1 NA NA 1 NA NA 0 5 NA 1 1 8.12E-18 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 62041538 C G AL355916.1 ENST00000508827 r.? - - upstream 27 0 0 52 13 25 48 13 27.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.991936395 0.991936395 1 1.207126949 1.207126949 1 NA NA 1 NA NA 0 5 NA 1 1 6.47E-19 1 2E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 62083919 A T - - - - - - 36 0 0 39 8 20.5 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.813387844 0.813387844 1 1.483296214 1.483296214 1 NA NA 1 NA NA 0 5 NA 1 1 2.09E-11 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 62303809 G T - - - - - - 29 0 0 39 12 30.8 44 15 34.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.222065638 1.222065638 1 1.518930958 1.518930958 1 NA NA 1 NA NA 0 5 NA 1 1 8.43E-19 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 62720881 T G - - - - - - 35 0 0 44 8 18.2 36 12 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.722129695 0.722129695 1 1.483296214 1.483296214 1 NA NA 1 NA NA 0 5 NA 1 1 5.9E-11 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 63505031 G C KCNH5 CCDS9756.1 r.? - - intronic 43 0 0 35 10 28.6 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 65974117 C G FUT8 CCDS9775.1 r.? - - intronic 30 0 0 26 7 26.9 31 2 6.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.771618956 0.771618956 1 0.224532294 0.224532294 1 NA NA 1 NA NA 1 4 NA 1 1 4.73E-11 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 67097117 A G GPHN CCDS9777.1 r.? - - intronic 36 0 0 36 12 33.3 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.476699332 0.476699332 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 67309627 T A GPHN CCDS9777.1 r.? - - intronic 28 0 0 27 7 25.9 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.742934236 0.742934236 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 6.36E-11 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 67451708 T A GPHN CCDS9777.1 r.? - - intronic 34 0 0 36 13 36.1 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.035518375 1.035518375 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 2.53E-21 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 67822577 C T EIF2S1 CCDS9781.1 r.? - - upstream 29 0 0 33 9 27.3 17 5 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 1.84E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 67982916 G A TMEM229B CCDS9783.1 r.? - - upstream 29 0 0 34 11 32.4 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 67982917 C A TMEM229B CCDS9783.1 r.? - - upstream 30 0 0 35 12 34.3 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.98388588 0.98388588 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 68290932 G T RAD51L1 CCDS9789.1 r.? - - intronic 31 0 0 24 9 37.5 23 10 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.502639198 1.502639198 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 1.05E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 68332166 C G RAD51L1 CCDS9789.1 r.? - - intronic 21 0 0 32 12 37.5 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.357556793 1.357556793 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 68394686 G C RAD51L1 CCDS9789.1 r.? - - intronic 41 0 0 21 11 52.4 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.503079304 1.503079304 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-20 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 69554047 A G DCAF5 CCDS32106.1 r.? - - intronic 27 0 0 38 16 42.1 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.207626692 1.207626692 1 0.974124722 0.974124722 1 NA NA 1 NA NA 1 5 NA 1 1 3.06E-27 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 70330738 T A - - - - - - 29 0 0 37 14 37.8 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.084282398 1.084282398 1 0.594146993 0.594146993 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-23 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 70546651 A C SLC8A3 CCDS35498.1 r.? - - intronic 28 0 0 25 6 24 35 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.688433269 0.688433269 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.55E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 71279134 A C MAP3K9 CCDS32112.1 r.? - - upstream 29 0 0 21 4 19 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.545009671 0.545009671 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000349 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 71528491 C T PCNX CCDS9806.1 r.? - - intronic 28 0 0 23 8 34.8 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 71759431 G T - - - - - - 40 0 0 24 6 25 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.55614922 0.55614922 1 NA NA 1 NA NA 1 5 NA 1 1 1.95E-09 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 72020092 T C SIPA1L1 CCDS9807.1 r.? - - intronic 29 0 0 27 9 33.3 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.970670379 0.970670379 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 73493669 G C ZFYVE1 CCDS9811.1 r.179c>g c.? p.? 5'UTR variant 27 0 0 17 7 41.2 7 2 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.181810445 1.181810445 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.45E-12 1 0.000516315 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 74329693 A T PTGR2 CCDS9820.1 r.? - - intronic 36 0 0 28 9 32.1 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.920779497 0.920779497 1 0.670142539 0.670142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 74332778 C A PTGR2 CCDS9820.1 r.? - - intronic 29 0 0 24 7 29.2 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 74779055 T C - - - - - - 40 0 0 28 7 25 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 74848269 G A - - - - - - 20 0 0 32 14 43.8 18 7 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.256390716 1.256390716 1 1.343739421 1.343739421 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 2.37E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 75032761 G A LTBP2 CCDS9831.1 r.? - - intronic 26 0 0 38 9 23.7 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.679827853 0.679827853 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 75077736 G A LTBP2 CCDS9831.1 r.? - - intronic 32 0 0 19 8 42.1 19 8 42.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.207626692 1.207626692 1 1.454278396 1.454278396 1 NA NA 1 NA NA 1 5 NA 1 1 2.81E-14 1 2.81E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 75106179 G C - - - - - - 28 0 0 29 12 41.4 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 0.576875278 0.576875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 75413124 A T PGF CCDS9835.1 r.? - - intronic 29 0 0 30 9 30 33 12 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 76575590 C G - - - - - - 30 0 0 28 5 17.9 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.51345648 0.51345648 1 0.835951002 0.835951002 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000279 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 77171648 T C - - - - - - 24 0 0 39 11 28.2 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 77374011 G T - - - - - - 33 0 0 44 9 20.5 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 77426872 G C - - - - - - 44 0 0 38 13 34.2 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 77924090 T C VIPAR CCDS9862.1 r.? - - upstream 26 0 0 42 14 33.3 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-22 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 78129195 T A - - - - - - 37 0 0 38 11 28.9 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 78182647 G C SNW1 CCDS9867.1 r.? - - downstream 30 0 0 36 7 19.4 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.538975501 0.538975501 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 78407460 A T - - - - - - 32 0 0 49 13 26.5 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.71E-19 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 78423620 T G - - - - - - 24 0 0 37 10 27 16 3 18.8 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 0.0000667 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 78523174 G T - - - - - - 30 0 0 26 9 34.6 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.338491296 1.338491296 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 78532138 G T - - - - - - 39 0 0 43 9 20.9 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.808510638 0.808510638 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 78564369 C T - - - - - - 28 0 0 41 9 22 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 78612208 G A - - - - - - 23 0 0 33 12 36.4 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.408123791 1.408123791 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 78666320 G A - - - - - - 33 0 0 38 10 26.3 37 6 16.2 7 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 78729433 G C - - - - - - 37 0 0 42 12 28.6 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 78816217 T C - - - - - - 46 0 0 49 14 28.6 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 3.5E-21 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 78908869 T G - - - - - - 33 0 0 40 11 27.5 40 14 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 1.559020045 1.559020045 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 79155978 A C NRXN3 CCDS9870.1 r.? - - intronic 43 0 0 33 10 30.3 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 79164389 C T NRXN3 CCDS9870.1 r.? - - intronic 38 0 0 38 11 28.9 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 79307212 A T NRXN3 CCDS9870.1 r.? - - intronic 33 0 0 21 7 33.3 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-12 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 79409548 C A NRXN3 CCDS9870.1 r.? - - intronic 25 0 0 33 10 30.3 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 79635313 C T NRXN3 CCDS9870.1 r.? - - intronic 35 1 2.9 39 11 28.2 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 0.16091139 1 7.2E-17 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 79793643 G A NRXN3 CCDS45145.1 r.? - - intronic 33 0 0 40 15 37.5 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-24 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 80103842 T C NRXN3 CCDS45145.1 r.? - - intronic 31 0 0 38 14 36.8 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.423597679 1.423597679 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 80216165 A T NRXN3 CCDS45145.1 r.? - - intronic 34 0 0 36 9 25 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 80286912 A C NRXN3 CCDS45145.1 r.? - - intronic 34 0 0 43 7 16.3 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.630560928 0.630560928 1 0.605790646 0.605790646 1 NA NA 1 NA NA 1 5 NA 1 1 2.15E-09 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 80467742 T G - - - - - - 27 0 0 50 13 26 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.005802708 1.005802708 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 3.65E-19 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 80490352 A C - - - - - - 38 0 0 44 14 31.8 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.230174081 1.230174081 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 6.1E-22 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 80638138 C T - - - - - - 43 0 0 43 12 27.9 37 2 5.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.240534521 0.240534521 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 80767557 A T AC010849.1 ENST00000504475 r.? - - intronic 33 0 0 49 12 24.5 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.947775629 0.947775629 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 80845545 T A AC010849.1 ENST00000504475 r.? - - intronic 22 0 0 45 13 28.9 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 7.68E-20 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 81161960 C G C14orf145 CCDS32130.1 r.? - - intronic 28 0 0 32 8 25 44 13 29.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.31403118 1.31403118 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 5.49E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 81682738 A T GTF2A1 CCDS9873.1 r.? - - intronic 32 0 0 38 6 15.8 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.611218569 0.611218569 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 81878704 A T - - - - - - 31 0 0 41 6 14.6 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.564796905 0.564796905 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 6.05E-08 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 82424204 G A - - - - - - 26 0 0 51 16 31.4 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 9.28E-25 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 82427291 A G - - - - - - 43 0 0 42 5 11.9 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.460348162 0.460348162 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000228 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 82494279 C T - - - - - - 33 0 0 38 7 18.4 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 82741978 T C - - - - - - 39 0 0 35 8 22.9 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 82776918 G C - - - - - - 33 0 0 49 10 20.4 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.789168279 0.789168279 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-14 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 82874327 G A - - - - - - 34 0 0 32 8 25 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.948775056 0.948775056 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 82943884 A G - - - - - - 42 0 0 47 15 31.9 39 13 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.234042553 1.234042553 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.97E-23 1 8.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 83754388 C T - - - - - - 30 0 0 32 11 34.4 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.330754352 1.330754352 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 83953927 G T - - - - - - 37 0 0 49 13 26.5 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.779510022 0.779510022 1 NA NA 1 NA NA 1 5 NA 1 1 2.71E-19 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 84351959 T A - - - - - - 35 0 0 50 6 12 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.464216634 0.464216634 1 1.532293987 1.532293987 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000206 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 84477453 A G - - - - - - 49 0 0 43 13 30.2 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.16827853 1.16827853 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-20 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 85112647 G T - - - - - - 37 0 0 44 10 22.7 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 85410280 G T - - - - - - 30 0 0 43 12 27.9 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 85834231 T C - - - - - - 42 0 0 25 15 60 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.721083172 1.721083172 1 1.336830735 1.336830735 1 NA NA 1 NA NA 1 5 NA 1 1 9.52E-29 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 85900076 A T - - - - - - 48 0 0 39 11 28.2 33 3 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.808909091 0.808909091 1 0.314345212 0.314345212 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 85956728 G A - - - - - - 32 0 0 38 11 28.9 36 11 30.6 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.828988395 0.828988395 1 1.057028953 1.057028953 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 86754814 G T - - - - - - 42 0 0 21 9 42.9 36 17 47.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 1.630449889 1.630449889 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-16 1 6E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 87586998 T G - - - - - - 30 0 0 26 8 30.8 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 1.336830735 1.336830735 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 87621444 C T - - - - - - 29 0 0 23 8 34.8 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 88096313 G C - - - - - - 35 0 0 31 9 29 18 7 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 1.343739421 1.343739421 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 2.37E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 88354079 G T - - - - - - 36 0 0 29 12 41.4 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 90123239 A T - - - - - - 35 0 0 33 17 51.5 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.477263056 1.477263056 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 8.25E-31 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 90154430 C G - - - - - - 24 0 0 37 7 18.9 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.542141199 0.542141199 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 91227725 C G TTC7B CCDS32140.1 r.? - - intronic 30 0 0 26 11 42.3 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 91572663 C A - - - - - - 28 0 0 18 9 50 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.278106904 1.278106904 1 NA NA 1 NA NA 1 5 NA 1 1 9.12E-17 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 92919953 C A SLC24A4 CCDS9903.1 r.? - - intronic 38 0 0 28 7 25 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.552694878 0.552694878 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 93012738 C A RIN3 CCDS32144.1 r.? - - intronic 27 0 0 29 10 34.5 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 1.001759465 1.001759465 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 93202110 T G LGMN CCDS9904.1 r.? - - intronic 34 0 0 29 7 24.1 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.691301741 0.691301741 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 93256047 T A GOLGA5 CCDS9905.1 r.? - - upstream 30 0 0 26 10 38.5 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 0.780681514 0.780681514 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 93909987 T C KIAA1409 CCDS9911.2 r.? - - intronic 24 0 0 23 5 21.7 21 9 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.622458414 0.622458414 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 9.75E-08 1 5.44E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 94289429 G T - - - - - - 21 0 0 39 9 23.1 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.662617021 0.662617021 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 94608707 G C - - - - - - 33 0 0 30 5 16.7 33 12 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.479034816 0.479034816 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 95738628 G T CLMN CCDS9933.1 r.? - - intronic 31 0 0 35 14 40 24 7 29.2 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.008668151 1.008668151 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-23 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 96187078 A C - - - - - - 37 0 0 29 11 37.9 21 4 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 0.656325167 0.656325167 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 96374959 A G AL133167.1 ENST00000503525 r.? - - intronic 36 0 0 33 12 36.4 19 4 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 0.72886637 0.72886637 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 96433432 A C - - - - - - 22 0 0 33 9 27.3 35 15 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 9.02E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 98180784 G C - - - - - - 32 0 0 23 7 30.4 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.872015474 0.872015474 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-11 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 98454435 G T - - - - - - 40 0 0 25 9 36 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 0.53196882 0.53196882 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 98527467 T G - - - - - - 34 0 0 33 10 30.3 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 98534016 G T - - - - - - 28 0 0 32 9 28.1 23 10 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.806040619 0.806040619 1 1.502639198 1.502639198 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 1.05E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 98623150 G T - - - - - - 33 0 0 29 11 37.9 19 5 26.3 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 0.908492205 0.908492205 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 98940206 C G - - - - - - 45 0 0 28 7 25 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 98982205 G T - - - - - - 36 1 2.8 33 10 30.3 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 1.091572383 1.091572383 1 NA NA 1 NA NA 1 5 NA 0.165106833 1 8.14E-16 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 99490276 G T - - - - - - 28 0 0 27 15 55.6 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.594870406 1.594870406 1 1.046665924 1.046665924 1 NA NA 1 NA NA 1 5 NA 1 1 5.01E-28 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 100325121 C A EML1 CCDS32154.1 r.? - - intronic 35 0 0 26 6 23.1 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.662617021 0.662617021 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.3E-09 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 101156618 C T - - - - - - 30 0 0 29 10 34.5 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 101285317 T A - - - - - - 18 0 0 29 8 27.6 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 101422900 T G SNORD114-2 ENST00000363953 r.? - - downstream 36 0 0 25 9 36 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 101829816 C A - - - - - - 26 0 0 50 21 42 38 14 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.204758221 1.204758221 1 1.271198218 1.271198218 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-35 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 101861983 G C - - - - - - 28 0 0 28 11 39.3 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.127309478 1.127309478 1 1.001759465 1.001759465 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 101897788 A G - - - - - - 22 0 0 28 8 28.6 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 102067542 A G - - - - - - 20 0 0 26 9 34.6 23 11 47.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.651175947 1.651175947 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 6.25E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 102123696 C G - - - - - - 41 0 0 35 8 22.9 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.656880077 0.656880077 1 0.791044543 0.791044543 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 102160751 A G - - - - - - 36 0 0 31 8 25.8 16 5 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.740065764 0.740065764 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 0.000000013 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 102200819 T A - - - - - - 22 0 0 17 9 52.9 19 8 42.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.517421663 1.517421663 1 1.454278396 1.454278396 1 NA NA 1 NA NA 1 5 NA 1 1 4.58E-17 1 2.81E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 102266867 T C PPP2R5C ENST00000328724 r.? - - intronic 28 0 0 21 8 38.1 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.092887814 1.092887814 1 0.607964365 0.607964365 1 NA NA 1 NA NA 1 5 NA 1 1 7.5E-14 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 102266868 C T PPP2R5C ENST00000328724 r.? - - intronic 30 0 0 22 9 40.9 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.173205029 1.173205029 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 9.16E-16 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 102647968 T A WDR20 CCDS9968.1 r.? - - intronic 25 0 0 33 4 12.1 27 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.347085106 0.347085106 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 103027741 T A - - - - - - 26 0 0 29 18 62.1 19 6 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.781321083 1.781321083 1 1.091572383 1.091572383 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-34 1 4.01E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 103668293 A G - - - - - - 25 0 0 36 14 38.9 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.11583559 1.11583559 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 103710255 C G - - - - - - 33 0 0 46 12 26.1 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.74867118 0.74867118 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 104346571 T A - - - - - - 23 0 0 36 12 33.3 22 7 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.098481069 1.098481069 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 104750785 C G - - - - - - 28 0 0 22 10 45.5 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 5.98E-18 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 104769715 C T - - - - - - 22 0 0 24 11 45.8 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.313760155 1.313760155 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-19 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 105106898 A T - - - - - - 33 0 0 34 9 26.5 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.760145068 0.760145068 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 105399636 T C AHNAK2 CCDS45177.1 r.? - - downstream 35 0 0 32 10 31.2 2 1 50 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 1.727171492 1.727171492 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 0.009975 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 106017655 A C - - - - - - 22 0 0 25 6 24 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.688433269 0.688433269 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 106292781 T G - - - - - - 45 0 0 25 16 64 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.83582205 1.83582205 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 2.99E-31 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 106504592 G T - - - - - - 34 0 0 29 12 41.4 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 0.749592428 0.749592428 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 107070625 C G - - - - - - 36 1 2.8 21 7 33.3 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 0.165106833 1 8.54E-12 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 107141668 A C - - - - - - 26 0 0 20 8 40 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 4.66E-14 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 20153768 C A - - - - - - 35 0 0 34 14 41.2 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.593810445 1.593810445 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 7.74E-24 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 20440121 C T ENSG00000215407 ENST00000400226 r.? - - intronic 88 0 0 71 7 9.9 77 4 5.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.382978723 0.382978723 1 0.231625835 0.231625835 1 NA NA 1 NA NA 1 3 NA 1 1 7.85E-08 1 0.000632383 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 20472312 G C ENSG00000215407 ENST00000400226 r.? - - intronic 131 0 0 160 16 10 137 7 5.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.386847195 0.386847195 1 0.227171492 0.227171492 1 NA NA 1 NA NA 1 3 NA 1 1 3.14E-16 1 0.00000681 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 20563765 T A - - - - - - 137 0 0 138 11 8 97 8 8.2 0 0 NA 1 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.309477756 0.309477756 1 0.365256125 0.365256125 1 0 0 1 NA NA 1 4 NA 1 1 1.57E-10 1 0.000000038 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 20567880 A T - - - - - - 151 0 0 141 9 6.4 161 7 4.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.247582205 0.247582205 1 0.191536748 0.191536748 1 NA NA 1 NA NA 1 3 NA 1 1 5.05E-08 1 0.0000195 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 20870579 G T - - - - - - 148 0 0 127 12 9.4 134 10 7.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.363636364 0.363636364 1 0.334075724 0.334075724 1 NA NA 1 NA NA 1 4 NA 1 1 3.09E-12 1 2.03E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 21166278 T C - - - - - - 44 0 0 47 5 10.6 63 6 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.410058027 0.410058027 1 0.423162584 0.423162584 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000402 1 0.000000832 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 21218839 C G - - - - - - 24 0 0 33 6 18.2 34 4 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 0.525612472 0.525612472 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 21918317 T A - - - - - - 142 0 0 190 11 5.8 144 4 2.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.224371373 0.224371373 1 0.124721604 0.124721604 1 NA NA 1 NA NA 1 3 NA 1 1 4.67E-09 1 0.006167882 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 22148055 C A - - - - - - 71 0 0 75 7 9.3 84 5 6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.359767892 0.359767892 1 0.267260579 0.267260579 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000115 1 0.0000695 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 22434446 C T - - - - - - 82 0 0 79 7 8.9 83 10 12 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.344294004 0.344294004 1 0.534521158 0.534521158 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000165 1 1.7E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 22514097 G T MIR1268 ENST00000408714 r.? - - upstream 87 0 0 102 12 11.8 73 8 11 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.456479691 0.456479691 1 0.489977728 0.489977728 1 NA NA 1 NA NA 1 4 NA 1 1 2.18E-13 1 3.93E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 22576819 G T - - - - - - 82 0 0 78 9 11.5 88 9 10.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.444874275 0.444874275 1 0.454342984 0.454342984 1 NA NA 1 NA NA 1 4 NA 1 1 2.61E-10 1 7.82E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 23072096 C T NIPA1 CCDS10011.1 r.? - - intronic 22 0 0 34 10 29.4 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 23694017 A T ENSG00000174450 ENST00000312015 r.? - - upstream 43 0 0 45 7 15.6 40 14 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 1.559020045 1.559020045 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000003 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 23916627 C A - - - - - - 40 0 0 38 8 21.1 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 24129719 T G - - - - - - 38 0 0 44 7 15.9 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.615087041 0.615087041 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 24243524 A T - - - - - - 26 0 0 35 8 22.9 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.855233853 0.855233853 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 24360137 C G - - - - - - 26 0 0 27 11 40.7 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.574468085 1.574468085 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 24367469 A T - - - - - - 47 0 0 36 12 33.3 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 24369651 A T - - - - - - 39 0 0 44 9 20.5 50 10 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 24515260 G T - - - - - - 27 0 0 31 8 25.8 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 24575899 C A - - - - - - 52 0 0 36 6 16.7 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 24595064 G T - - - - - - 33 0 0 39 10 25.6 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 24780138 A C - - - - - - 27 0 0 39 7 17.9 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 24843880 C G - - - - - - 28 0 0 21 5 23.8 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 5.95E-08 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 25112273 T A SNRPN CCDS10017.1 r.? - - intronic 36 0 0 38 14 36.8 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.423597679 1.423597679 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 25162449 C T SNRPN CCDS10017.1 r.? - - intronic 36 0 0 47 15 31.9 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.234042553 1.234042553 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.97E-23 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 25211318 C T SNRPN CCDS10017.1 r.? - - intronic 35 0 0 48 14 29.2 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.12959381 1.12959381 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-21 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 25573100 G C - - - - - - 21 0 0 40 9 22.5 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 25686658 A T UBE3A CCDS45191.1 r.? - - upstream 24 0 0 27 7 25.9 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.001934236 1.001934236 1 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 6.36E-11 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 25807226 G T - - - - - - 50 0 0 46 13 28.3 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.094777563 1.094777563 1 1.135857461 1.135857461 1 NA NA 1 NA NA 1 5 NA 1 1 1.07E-19 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 26282664 T G ENSG00000206187 ENST00000383019 r.? - - intronic 38 0 0 32 9 28.1 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 26428923 T A - - - - - - 25 0 0 31 8 25.8 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 26514299 G A - - - - - - 32 0 0 41 8 19.5 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.754352031 0.754352031 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 26625246 A G - - - - - - 24 0 0 49 11 22.4 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.866537718 0.866537718 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 26642947 T C - - - - - - 31 0 0 40 13 32.5 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 26674256 A G - - - - - - 26 0 0 53 14 26.4 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.021276596 1.021276596 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 1.22E-20 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 26773830 G T - - - - - - 42 0 0 44 12 27.3 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 26893229 C A GABRB3 CCDS10019.1 r.? - - intronic 22 0 0 27 6 22.2 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 4.23E-09 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 26957755 G T GABRB3 CCDS10019.1 r.? - - intronic 28 0 0 38 7 18.4 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 1.153674833 1.153674833 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 26965743 G T GABRB3 CCDS10019.1 r.? - - intronic 35 0 0 32 13 40.6 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.570599613 1.570599613 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-22 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 27139243 G A GABRA5 CCDS45194.1 r.? - - intronic 25 0 0 41 9 22 15 3 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 0.0000544 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 27428132 T A GABRG3 CCDS45195.1 r.? - - intronic 32 0 0 42 10 23.8 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 27657230 G T GABRG3 CCDS45195.1 r.? - - intronic 41 0 0 38 13 34.2 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 27882415 G A - - - - - - 31 0 0 39 14 35.9 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.388781431 1.388781431 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 28280824 G C OCA2 CCDS10020.1 r.? - - intronic 42 0 0 26 6 23.1 48 14 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.300668151 1.300668151 1 NA NA 1 NA NA 1 5 NA 1 1 3.3E-09 1 2.51E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 28307631 A G OCA2 CCDS10020.1 r.? - - intronic 39 0 0 38 11 28.9 46 18 39.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.741648107 1.741648107 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 9.41E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 29094952 G A - - - - - - 26 0 0 32 10 31.2 6 2 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 0.000370028 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 29457442 A C FAM189A1 CCDS45198.1 r.? - - intronic 33 0 0 32 6 18.8 42 4 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 0.423162584 0.423162584 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 29600735 C A FAM189A1 CCDS45198.1 r.? - - intronic 27 0 0 35 7 20 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 29756165 C T FAM189A1 CCDS45198.1 r.? - - intronic 30 0 0 35 9 25.7 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 29795911 T A FAM189A1 CCDS45198.1 r.? - - intronic 34 0 0 40 8 20 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 30055059 T C TJP1 CCDS42007.1 r.? - - intronic 36 0 0 36 8 22.2 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 30166534 G T - - - - - - 27 0 0 27 8 29.6 34 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.145067698 1.145067698 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 7.97E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 30239588 A T - - - - - - 31 0 0 44 8 18.2 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 30239589 T A - - - - - - 31 0 0 44 7 15.9 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.615087041 0.615087041 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 30320890 C G - - - - - - 35 0 0 42 9 21.4 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 30350746 C T - - - - - - 27 0 0 48 16 33.3 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 2.96E-25 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 30969834 A T ARHGAP11B CCDS32185.1 r.? - - intronic 26 0 0 29 6 20.7 39 3 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.800773694 0.800773694 1 0.34298441 0.34298441 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 0.000998458 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 31512124 C G - - - - - - 33 0 0 33 8 24.2 36 13 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 1.608017817 1.608017817 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 31518414 C G - - - - - - 30 0 0 34 12 35.3 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.3655706 1.3655706 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 31519615 C G - - - - - - 29 0 0 31 9 29 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 31520841 C A - - - - - - 40 0 0 30 9 30 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 31773985 A G OTUD7A CCDS10026.1 r.4386u>c c.? p.? 3'UTR variant 39 0 0 39 9 23.1 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.662617021 0.662617021 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 32004304 T G - - - - - - 37 0 0 29 11 37.9 20 3 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 0.518151448 0.518151448 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 34723103 C T - - - - - - 21 0 0 33 5 15.2 35 1 2.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.436007737 0.436007737 1 0.100175947 0.100175947 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000066 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 36031890 C T AC068867.1 ENST00000501169 r.? - - intronic 33 0 0 31 9 29 23 11 47.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 1.651175947 1.651175947 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 6.25E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 36285710 C G - - - - - - 35 0 0 32 7 21.9 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.628195358 0.628195358 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 36438788 G T - - - - - - 44 1 2.3 35 10 28.6 31 16 51.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.78244098 1.78244098 1 NA NA 1 NA NA 1 5 NA 0.197923942 1 1.6E-15 1 4.27E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 39448570 G T - - - - - - 32 0 0 28 13 46.4 26 12 46.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.330970986 1.330970986 1 1.595906459 1.595906459 1 NA NA 1 NA NA 1 5 NA 1 1 4.26E-23 1 2.21E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 39503252 T C - - - - - - 34 0 0 41 12 29.3 19 3 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.840462282 0.840462282 1 0.545786192 0.545786192 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 39905899 A T FSIP1 CCDS10050.1 r.? - - intronic 33 0 0 39 17 43.6 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.250653772 1.250653772 1 0.759955457 0.759955457 1 NA NA 1 NA NA 1 5 NA 1 1 3.51E-29 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 40600212 C G PLCB2 CCDS42020.1 r.? - - upstream 16 0 0 11 4 36.4 6 2 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000201 1 0.000370028 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 40638612 C G PHGR1 CCDS45225.1 r.? - - upstream 38 0 0 29 8 27.6 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 41506941 G A EXD1 CCDS10072.1 r.? - - intronic 18 0 0 34 11 32.4 26 11 42.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 1.461187082 1.461187082 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 3.52E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 42081094 A T MAPKBP1 CCDS32201.1 r.? - - intronic 38 0 0 29 5 17.2 17 4 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.493377176 0.493377176 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000336 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 43722940 G C TP53BP1 CCDS10096.1 r.? - - intronic 41 0 0 37 9 24.3 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.697038685 0.697038685 1 0.963761693 0.963761693 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 44265243 C T FRMD5 CCDS10107.2 r.? - - intronic 32 0 0 38 13 34.2 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.981017408 0.981017408 1 1.267743875 1.267743875 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 44495939 G A - - - - - - 34 0 0 31 10 32.3 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 45451165 C A DUOX1 CCDS32221.1 r.? - - intronic 22 0 0 24 7 29.2 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 0.749592428 0.749592428 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 45941760 G A SQRDL CCDS10127.1 r.? - - intronic 37 0 0 38 11 28.9 32 17 53.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.828988395 0.828988395 1 1.834256125 1.834256125 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 4.02E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 46389316 C A - - - - - - 34 0 0 33 11 33.3 39 13 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 8.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 47114971 C A - - - - - - 42 0 0 24 10 41.7 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 1.226291759 1.226291759 1 NA NA 1 NA NA 1 5 NA 1 1 1.8E-17 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 47130834 T A - - - - - - 36 0 0 30 9 30 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 47203989 C T - - - - - - 41 0 0 32 12 37.5 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.791044543 0.791044543 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 47342908 C G - - - - - - 37 0 0 27 6 22.2 21 3 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.636800774 0.636800774 1 0.493971047 0.493971047 1 NA NA 1 NA NA 1 5 NA 1 1 4.23E-09 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 47597258 A T - - - - - - 43 0 0 32 16 50 27 11 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.405917595 1.405917595 1 NA NA 1 NA NA 1 5 NA 1 1 8.51E-29 1 5.92E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 47720110 G T - - - - - - 35 0 0 24 11 45.8 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.313760155 1.313760155 1 0.908492205 0.908492205 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-19 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 47725305 G C - - - - - - 39 0 0 23 5 21.7 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.622458414 0.622458414 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 9.75E-08 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 47747376 A G - - - - - - 33 0 0 15 4 26.7 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000816 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 47753933 T A - - - - - - 27 0 0 30 7 23.3 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.668353965 0.668353965 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 47841109 C T - - - - - - 34 0 0 26 11 42.3 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 48180410 T G - - - - - - 31 0 0 32 13 40.6 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.164599613 1.164599613 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-22 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 48245981 C T - - - - - - 42 1 2.4 33 14 42.4 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.216232108 1.216232108 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 0.189842622 1 4.57E-24 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 48376138 T C - - - - - - 33 0 0 32 12 37.5 21 2 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.328162584 0.328162584 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 49408018 C T - - - - - - 48 0 0 23 10 43.5 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.2477853 1.2477853 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 1.05E-17 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 49542860 G T GALK2 CCDS32236.1 r.? - - intronic 31 0 0 25 8 32 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 49634401 G T C15orf33 CCDS32237.1 r.? - - intronic 40 0 0 19 7 36.8 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.055597679 1.055597679 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-12 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 50238981 G A ATP8B4 CCDS32238.1 r.? - - intronic 33 0 0 27 10 37 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 50317349 G C ATP8B4 CCDS32238.1 r.? - - intronic 32 1 3.1 36 12 33.3 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.119207127 1.119207127 1 NA NA 1 NA NA 1 5 NA 0.14819814 1 2.73E-19 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 50331225 G A ATP8B4 CCDS32238.1 r.? - - intronic 38 0 0 25 9 36 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 50513036 T A SLC27A2 CCDS10133.1 r.? - - intronic 31 0 0 34 15 44.1 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.264996132 1.264996132 1 0.618327394 0.618327394 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-26 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 50971457 A T TRPM7 CCDS42035.1 r.? - - intronic 21 0 0 22 6 27.3 19 5 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 0.908492205 0.908492205 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-09 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 51655162 A T GLDN CCDS10140.2 r.? - - intronic 31 0 0 28 11 39.3 17 5 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.127309478 1.127309478 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 1.84E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 53102313 G A - - - - - - 33 0 0 28 8 28.6 24 10 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.440461024 1.440461024 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 1.8E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 53279759 A T - - - - - - 41 0 0 33 8 24.2 21 4 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.694170213 0.694170213 1 0.656325167 0.656325167 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 53279760 T C - - - - - - 41 0 0 34 8 23.5 22 4 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.674090909 0.674090909 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 53532541 T A - - - - - - 22 0 0 27 5 18.5 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.530667311 0.530667311 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000023 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 54317591 G T UNC13C CCDS45264.1 r.? - - intronic 38 0 0 20 7 35 20 8 40 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.003965184 1.003965184 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-12 1 4.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 54460216 A T UNC13C CCDS45264.1 r.? - - intronic 43 0 0 33 14 42.4 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.216232108 1.216232108 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 4.57E-24 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 54577892 G C UNC13C CCDS45264.1 r.? - - intronic 38 0 0 32 6 18.8 27 1 3.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.539272727 0.539272727 1 0.12781069 0.12781069 1 NA NA 1 NA NA 1 3 NA 1 1 1.27E-08 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 56025018 T G PRTG CCDS42040.1 r.? - - intronic 29 0 0 30 14 46.7 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.339576402 1.339576402 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 8.24E-25 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 56538278 C T RFX7 ENST00000423270 r.? - - upstream 40 0 0 40 16 40 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 8.56E-27 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 57729993 G T CGNL1 CCDS10161.1 r.? - - intronic 27 0 0 22 9 40.9 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.173205029 1.173205029 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 9.16E-16 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 57820980 A C CGNL1 CCDS10161.1 r.3246a>c c.3168A>C p.K1056N missense 30 0 0 33 9 27.3 18 5 27.8 207 0 0 121 40 33.1 21 3 14.3 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 0.96030735 0.96030735 1 0.949464217 0.949464217 1 0.493971047 0.493971047 1 5 5 1 1 6.76E-14 1.05E-60 2.54E-08 0.000155401 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 58073974 G C - - - - - - 30 0 0 31 13 41.9 21 3 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 0.493971047 0.493971047 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 58118469 G T - - - - - - 39 0 0 23 13 56.5 20 8 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.620686654 1.620686654 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-24 1 4.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 58364944 G C AC025431.1 ENST00000498888 r.? - - downstream 49 0 0 32 14 43.8 22 7 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.256390716 1.256390716 1 1.098481069 1.098481069 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 58891858 C G ADAM10 CCDS10167.1 r.2535g>c c.2091G>C p.K697N missense 23 0 0 31 10 32.3 33 5 15.2 153 0 0 46 20 43.5 719 653 90.8 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 0.525060134 0.525060134 1 1.2477853 1.2477853 1 3.13654343 3.13654343 1 5 4 1 1 3.94E-16 4.72E-34 0.00000066 0 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 15 59715417 C G - - - - - - 31 0 0 38 10 26.3 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.754408124 0.754408124 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 59922075 C T - - - - - - 33 0 0 38 14 36.8 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.055597679 1.055597679 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 60114275 G A - - - - - - 37 0 0 36 13 36.1 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.035518375 1.035518375 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 2.53E-21 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 60501662 T C - - - - - - 41 0 0 27 7 25.9 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.742934236 0.742934236 1 0.635599109 0.635599109 1 NA NA 1 NA NA 1 5 NA 1 1 6.36E-11 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 61048276 G A RORA CCDS10177.1 r.? - - intronic 42 0 0 35 11 31.4 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.900700193 0.900700193 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 61634511 C A - - - - - - 23 0 0 26 9 34.6 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 0.915400891 0.915400891 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 61634518 T G - - - - - - 26 0 0 25 9 36 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 0.791044543 0.791044543 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 62150165 C A VPS13C CCDS32257.1 r.? - - intronic 24 0 0 33 8 24.2 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.694170213 0.694170213 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 62150166 T G VPS13C CCDS32257.1 r.? - - intronic 24 0 0 33 7 21.2 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.608116054 0.608116054 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 63652689 A C CA12 CCDS10185.1 r.? - - intronic 35 0 0 21 7 33.3 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-12 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 64520391 T A CSNK1G1 CCDS10192.2 r.? - - intronic 32 0 0 37 10 27 40 3 7.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 1 1 1 1 0 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.259075724 0.259075724 1 NA NA 1 NA NA 0 5 NA 1 1 3.01E-15 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 65023650 T G - - - - - - 28 0 0 38 11 28.9 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 1 1 1 1 0 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.718503341 0.718503341 1 NA NA 1 NA NA 0 5 NA 1 1 5.19E-17 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 65023660 A G - - - - - - 31 1 3.2 38 12 31.6 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 1 1 1 1 0 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 0.929218263 0.929218263 1 NA NA 1 NA NA 0 5 NA 0.143917729 1 5.86E-19 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 65280746 T C SPG21 CCDS10198.1 r.? - - intronic 33 0 0 36 7 19.4 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 65550383 G A PARP16 CCDS10204.1 r.? - - downstream 30 0 0 31 7 22.6 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 1.572383073 1.572383073 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 65803562 T C DPP8 CCDS10207.1 r.? - - intronic 36 0 0 40 13 32.5 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 66351497 C A MEGF11 CCDS10213.2 r.? - - intronic 32 0 0 56 14 25 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.153674833 1.153674833 1 NA NA 1 NA NA 1 5 NA 1 1 2.91E-20 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 66449493 C G MEGF11 CCDS10213.2 r.? - - intronic 28 0 0 33 13 39.4 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.52417795 1.52417795 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 66531902 C A MEGF11 CCDS10213.2 r.? - - intronic 51 0 0 32 8 25 45 14 31.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.385300668 1.385300668 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 66970167 G T AC013564.1 ENST00000511020 r.? - - intronic 20 0 0 32 6 18.8 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 67556396 A C IQCH CCDS32273.1 r.? - - intronic 37 0 0 51 15 29.4 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 1.431330754 1.431330754 1 0.930443829 0.930443829 1 NA NA 1 NA NA 0 5 NA 1 1 8.22E-23 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 67697219 G A IQCH CCDS32273.1 r.? - - intronic 34 0 0 38 16 42.1 54 22 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 2.049626692 1.024813346 2 2.267608612 1.133804306 2 NA NA 1 NA NA 0 5 NA 1 1 3.06E-27 1 1.6E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 68110242 A T LBXCOR1 ENST00000341418 r.? - - upstream 35 0 0 42 25 59.5 50 24 48 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 2.896740812 1.448370406 2 2.674329567 1.337164784 2 NA NA 1 NA NA 0 5 NA 1 1 6.99E-47 1 6.39E-42 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 68190692 C T - - - - - - 38 0 0 53 12 22.6 48 7 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 1.100274662 1.100274662 1 0.81344191 0.81344191 1 NA NA 1 NA NA 0 5 NA 1 1 5.39E-17 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 68220010 T C - - - - - - 25 0 0 40 11 27.5 47 7 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 1.338829787 1.338829787 1 0.83015647 0.83015647 1 NA NA 1 NA NA 0 5 NA 1 1 9.88E-17 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 68423765 C T PIAS1 CCDS45290.1 r.? - - intronic 42 0 0 49 25 51 61 18 29.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 2.482920696 1.241460348 2 1.64359838 0.872943624 1.882823053 NA NA 1 NA NA 0 5 NA 1 1 1.68E-44 1 4.08E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 68487810 C G CALML4 CCDS42052.1 r.? - - intronic 26 0 0 43 21 48.8 53 22 41.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 2.375814313 1.187907157 2 2.312180772 1.156090386 2 NA NA 1 NA NA 0 5 NA 1 1 4.52E-37 1 9.5E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 69064933 A T - - - - - - 30 0 0 43 22 51.2 44 14 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 2.49265764 1.24632882 2 1.771743338 0.941003636 1.882823053 NA NA 1 NA NA 0 5 NA 1 1 2.27E-39 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 70023787 T C - - - - - - 33 0 0 46 16 34.8 43 15 34.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 1.69422824 0.84711412 2 1.944460456 0.972230228 2 NA NA 1 NA NA 0 5 NA 1 1 1.31E-25 1 4.05E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 70283575 G T - - - - - - 30 0 0 55 14 25.5 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 1.241460348 1.241460348 1 0.81901343 0.81901343 1 NA NA 1 NA NA 0 5 NA 1 1 2.19E-20 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 70633320 T C - - - - - - 27 0 0 52 21 40.4 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 1.966862669 0.983431335 2 1.047445747 1.047445747 1 NA NA 1 NA NA 0 5 NA 1 1 7.89E-35 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 71072097 T A - - - - - - 26 0 0 45 9 20 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 0.973694391 0.973694391 1 1.275878064 1.275878064 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-12 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 71164138 G T - - - - - - 22 0 0 39 9 23.1 16 2 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 1.124617021 1.124617021 1 0.696439991 0.696439991 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 0.002863359 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 71167567 A T - - - - - - 24 0 0 33 15 45.5 45 16 35.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 2.215154739 1.107577369 2 1.983461096 0.991730548 2 NA NA 1 NA NA 0 5 NA 1 1 2.91E-26 1 8.61E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 71208682 G C LRRC49 CCDS32282.1 r.? - - intronic 37 0 0 55 10 18.2 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 0.886061896 0.886061896 1 0.696439991 0.696439991 1 NA NA 1 NA NA 0 5 NA 1 1 2.33E-13 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 71412467 G T THSD4 CCDS10238.2 r.? - - intronic 28 0 0 61 12 19.7 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 0.959088975 0.959088975 1 1.504310382 1.504310382 1 NA NA 1 NA NA 0 5 NA 1 1 3.39E-16 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 71458178 C G THSD4 CCDS10238.2 r.? - - intronic 28 0 0 49 10 20.4 51 8 15.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 0.993168279 0.993168279 1 0.874728629 0.874728629 1 NA NA 1 NA NA 0 5 NA 1 1 6.72E-14 1 2.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 71478969 G C THSD4 CCDS10238.2 r.? - - intronic 31 0 0 46 16 34.8 52 16 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 1.69422824 0.84711412 2 1.716028139 0.911412326 1.882823053 NA NA 1 NA NA 0 5 NA 1 1 1.31E-25 1 1.33E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 71610468 T G THSD4 CCDS10238.2 r.? - - intronic 41 0 0 58 26 44.8 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 2.181075435 1.090537718 2 1.727171179 0.917330588 1.882823053 NA NA 1 NA NA 0 5 NA 1 1 2.83E-44 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 71662889 A C THSD4 CCDS10238.2 r.? - - intronic 38 0 0 50 6 12 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 0.584216634 0.584216634 1 1.002873588 1.002873588 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000206 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 71666471 C T THSD4 CCDS10238.2 r.? - - intronic 35 0 0 59 13 22 51 9 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 1.07106383 1.07106383 1 0.980587508 0.980587508 1 NA NA 1 NA NA 0 5 NA 1 1 3.99E-18 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 72390328 C T MYO9A CCDS10239.1 r.? - - intronic 33 0 0 55 9 16.4 52 6 11.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 4.131936932 2 3 1 1 1 0.868063068 NA 3 NA 2 NA 0.131936932 0.7984294 0.7984294 1 0.75742219 0.75742219 1 NA NA 0 NA NA 0 5 NA 1 1 1.01E-11 1 0.000000261 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 72549427 A G PARP6 CCDS10241.2 r.? - - intronic 33 0 0 73 11 15.1 49 5 10.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.131936932 3 3 1 1 1 0.868063068 NA 3 NA 2 NA 0.131936932 0.886139265 0.886139265 1 0.671800552 0.671800552 1 NA NA 1 NA NA 0 5 NA 1 1 1.31E-13 1 0.00000496 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 73099319 G A - - - - - - 26 0 0 44 21 47.7 3 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.131936932 3 3 1 1 1 0.868063068 NA 3 NA 2 NA 0.131936932 2.799261122 0.933087041 3 0 0 1 NA NA 1 NA NA 0 5 NA 1 1 8.6E-37 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 73661803 G T HCN4 CCDS10248.1 r.? - - upstream 25 0 0 56 7 12.5 32 3 9.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.131936932 3 3 1 1 1 0.868063068 NA 3 NA 2 NA 0.131936932 0.733558994 0.733558994 1 0.619110312 0.619110312 1 NA NA 1 NA NA 0 5 NA 1 1 1.46E-08 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 73904744 G C NPTN CCDS10249.1 r.? - - intronic 20 0 0 36 7 19.4 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.131936932 3 3 1 1 1 0.868063068 NA 3 NA 2 NA 0.131936932 1.138483559 1.138483559 1 1.099908746 1.099908746 1 NA NA 1 NA NA 0 5 NA 1 1 5.74E-10 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 74424063 G A ISLR2 CCDS10259.1 r.? - - intronic 28 0 0 60 11 18.3 37 4 10.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.131936932 3 3 1 1 1 0.868063068 NA 3 NA 2 NA 0.131936932 1.073930368 1.073930368 1 0.711318231 0.711318231 1 NA NA 1 NA NA 0 5 NA 1 1 1.34E-14 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 74653775 A G CYP11A1 CCDS45303.1 r.? - - intronic 32 0 0 71 12 16.9 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.131936932 3 3 1 1 1 0.868063068 NA 3 NA 2 NA 0.131936932 0.99177176 0.99177176 1 1.172357825 1.172357825 1 NA NA 1 NA NA 0 5 NA 1 1 2.38E-15 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 74693993 T A - - - - - - 23 0 0 69 12 17.4 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.131936932 3 3 1 1 1 0.868063068 NA 3 NA 2 NA 0.131936932 1.02111412 1.02111412 1 1.765123018 0.944894767 1.868063068 NA NA 1 NA NA 0 5 NA 1 1 1.65E-15 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 74794509 G A - - - - - - 35 0 0 62 13 21 60 6 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.131936932 3 3 1 1 1 0.868063068 NA 3 NA 2 NA 0.131936932 1.23237911 1.23237911 1 0.658627992 0.658627992 1 NA NA 1 NA NA 0 5 NA 1 1 8.08E-18 1 0.000000621 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 75340364 G T PPCDC CCDS10275.1 r.? - - intronic 30 0 0 64 14 21.9 51 6 11.8 2 0 0 0 0 NA 0 0 NA TRUE FALSE 4 4.131936932 3 3 1 1 1 0.868063068 NA 3 NA 2 NA 0.131936932 1.285195358 1.285195358 1 0.77718103 0.77718103 1 NA NA 1 NA NA 0 5 NA 1 1 2.31E-19 1 0.000000232 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 75364418 A C - - - - - - 26 0 0 69 17 24.6 51 10 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.131936932 3 3 1 1 1 0.868063068 NA 3 NA 2 NA 0.131936932 1.443644101 1.443644101 1 1.290910864 1.290910864 1 NA NA 1 NA NA 0 5 NA 1 1 3.56E-24 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 75508719 C T C15orf39 CCDS10276.1 r.? - - downstream 24 0 0 49 14 28.6 50 13 26 0 0 NA 2 0 0 0 0 NA TRUE FALSE 4 4.131936932 3 3 1 1 1 0.868063068 NA 3 NA 2 NA 0.131936932 1.678382979 0.839191489 2 1.712432778 0.916688953 1.868063068 0 0 1 NA NA 0 5 NA 1 1 3.5E-21 1 3.65E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 75541341 T C - - - - - - 40 0 0 68 10 14.7 48 3 6.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.131936932 3 3 1 1 1 0.868063068 NA 3 NA 2 NA 0.131936932 0.862665377 0.862665377 1 0.408349355 0.408349355 1 NA NA 1 NA NA 0 5 NA 1 1 2.18E-12 1 0.001827434 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 76101464 T A ENSG00000214677 ENST00000398772 r.? - - intronic 31 0 0 40 6 15 40 1 2.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.580270793 0.580270793 1 0.111358575 0.111358575 1 NA NA 1 NA NA 1 3 NA 1 1 5.18E-08 1 0.181679879 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 76262911 A T NRG4 CCDS10288.1 r.? - - intronic 39 0 0 34 9 26.5 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 76332108 G A - - - - - - 32 0 0 37 9 24.3 39 14 35.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 1.599109131 1.599109131 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 76455441 G A C15orf27 CCDS10289.2 r.? - - intronic 29 0 0 50 10 20 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 8.36E-14 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 77007335 C A SCAPER ENST00000303521 r.? - - intronic 41 0 0 35 10 28.6 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.930957684 0.930957684 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 77290316 C T PSTPIP1 CCDS45312.1 r.? - - intronic 18 0 0 34 8 23.5 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 77308630 C A PSTPIP1 CCDS45312.1 r.? - - intronic 27 0 0 44 7 15.9 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.615087041 0.615087041 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 77423592 C G ENSG00000173517 CCDS42062.1 r.? - - intronic 30 0 0 35 7 20 42 17 40.5 0 0 NA 1 1 100 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.804008909 1.804008909 1 3.868471954 3.868471954 1 NA NA 1 5 NA 1 1 4.65E-10 0.005 1.73E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 78091065 G A - - - - - - 21 0 0 36 7 19.4 43 13 30.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.345211581 1.345211581 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 3.88E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 78161656 G C - - - - - - 28 0 0 41 12 29.3 42 15 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 1.590200445 1.590200445 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 2.65E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 78522089 G T ACSBG1 CCDS10298.1 r.? - - intronic 20 0 0 47 18 38.3 39 4 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.481624758 1.481624758 1 0.458797327 0.458797327 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-29 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 78593020 G T WDR61 CCDS10300.1 r.? - - upstream 24 0 0 40 7 17.5 38 7 18.4 0 0 NA 2 2 100 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.676982592 0.676982592 1 0.819599109 0.819599109 1 3.868471954 3.868471954 1 NA NA 1 5 NA 1 1 1.26E-09 0.000025 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 78719301 T A - - - - - - 35 0 0 36 5 13.9 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.537717602 0.537717602 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000104 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 79001924 T C - - - - - - 30 0 0 45 13 28.9 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 7.68E-20 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 79493128 C A - - - - - - 45 0 0 45 9 20 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-12 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 79597618 C T - - - - - - 32 0 0 30 7 23.3 33 3 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.405345212 0.405345212 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 79997637 C G - - - - - - 39 0 0 33 5 15.2 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.588007737 0.588007737 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000066 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 79999027 G A - - - - - - 28 0 0 42 11 26.2 36 3 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.013539652 1.013539652 1 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 80144261 C A MTHFS CCDS10311.1 r.? - - intronic 20 0 0 44 13 29.5 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 80231632 G C - - - - - - 36 0 0 30 10 33.3 47 17 36.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.61247216 1.61247216 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 1.81E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 81102569 T G KIAA1199 CCDS10315.1 r.? - - intronic 33 0 0 40 8 20 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 81252340 C G MESDC2 ENST00000422879 r.? - - intronic 29 0 0 41 10 24.4 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 81935486 C A - - - - - - 27 0 0 43 12 27.9 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 81968521 G A - - - - - - 40 0 0 45 7 15.6 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000003 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 82038336 G C - - - - - - 31 0 0 37 8 21.6 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 83764617 T G - - - - - - 44 0 0 46 16 34.8 50 17 34 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.34622824 1.34622824 1 1.514476615 1.514476615 1 NA NA 1 NA NA 1 5 NA 1 1 1.31E-25 1 6.43E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 83815957 G C ENSG00000166503 CCDS32314.1 r.? - - intronic 27 0 0 27 9 33.3 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 83890951 A C AC103876.1 ENST00000500581 r.? - - intronic 30 0 0 43 13 30.2 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.16827853 1.16827853 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-20 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 84019954 A T - - - - - - 52 0 0 43 14 32.6 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 84075598 C A - - - - - - 32 0 0 29 8 27.6 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 84815181 C T - - - - - - 38 0 0 36 10 27.8 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 85414233 C A ALPK3 CCDS10333.1 r.8437c>a c.? p.? 3'UTR variant 24 0 0 26 7 26.9 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.040618956 1.040618956 1 1.590200445 1.590200445 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 85554271 T G PDE8A CCDS10336.1 r.? - - intronic 39 0 0 46 9 19.6 48 14 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 1.300668151 1.300668151 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 2.51E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 85600690 C G PDE8A CCDS10336.1 r.? - - intronic 24 0 0 51 15 29.4 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.22E-23 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 86665971 T G - - - - - - 29 0 0 40 13 32.5 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 86847373 C T AGBL1 ENST00000421325 r.? - - intronic 45 0 0 45 11 24.4 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-16 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 87049593 C T AGBL1 ENST00000421325 r.? - - intronic 35 0 0 46 9 19.6 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 87109410 C T AGBL1 ENST00000421325 r.? - - intronic 28 0 0 26 10 38.5 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.489361702 1.489361702 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 87254712 T C - - - - - - 35 1 2.9 40 13 32.5 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 1.550111359 1.550111359 1 NA NA 1 NA NA 1 5 NA 0.16091139 1 1.3E-20 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 87419525 C T - - - - - - 27 0 0 30 12 40 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.547388781 1.547388781 1 0.828507795 0.828507795 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 87587566 C T - - - - - - 24 0 0 39 10 25.6 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 87812283 A T - - - - - - 25 0 0 43 16 37.2 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.439071567 1.439071567 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 3.56E-26 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 88026378 G C - - - - - - 29 0 0 38 11 28.9 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 88068510 C G - - - - - - 40 0 0 42 8 19 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.735009671 0.735009671 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 88182871 A C - - - - - - 34 0 0 34 9 26.5 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 88337158 C A - - - - - - 34 0 0 44 7 15.9 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.615087041 0.615087041 1 1.19376392 1.19376392 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 89518726 G A - - - - - - 32 0 0 38 7 18.4 25 3 12 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 0.534521158 0.534521158 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 89542454 A T - - - - - - 24 0 0 41 11 26.8 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 90331444 C A ANPEP CCDS10356.1 r.? - - intronic 29 0 0 35 7 20 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 90558414 C T ZNF710 CCDS10358.1 r.? - - intronic 32 0 0 37 9 24.3 26 2 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 0.34298441 0.34298441 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 90573697 A C ZNF710 CCDS10358.1 r.? - - intronic 19 0 0 25 6 24 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.928433269 0.928433269 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 91630350 G T - - - - - - 38 0 0 48 18 37.5 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-29 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 91675055 C T SV2B CCDS10370.1 r.? - - intronic 29 0 0 30 7 23.3 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 91691300 T G SV2B CCDS10370.1 r.? - - intronic 24 0 0 37 14 37.8 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.462282398 1.462282398 1 1.438752784 1.438752784 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-23 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 91696963 C G SV2B CCDS10370.1 r.? - - intronic 30 0 0 39 9 23.1 57 13 22.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.0155902 1.0155902 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 91704170 A T SV2B CCDS10370.1 r.? - - intronic 41 0 0 28 6 21.4 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 91748291 A T SV2B CCDS10370.1 r.? - - intronic 36 0 0 36 6 16.7 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.532293987 1.532293987 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 91888284 G T - - - - - - 27 0 0 32 7 21.9 23 4 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.847195358 0.847195358 1 0.775055679 0.775055679 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 91906925 A T - - - - - - 45 0 0 44 16 36.4 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.408123791 1.408123791 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 5.57E-26 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 92090034 C T - - - - - - 33 0 0 41 9 22 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.538975501 0.538975501 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 92302140 C A - - - - - - 34 0 0 41 10 24.4 22 3 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.605790646 0.605790646 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 92327068 A T - - - - - - 36 0 0 42 12 28.6 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 92476104 A G SLCO3A1 CCDS10371.1 r.? - - intronic 26 0 0 37 9 24.3 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 92578067 T C SLCO3A1 CCDS10371.1 r.? - - intronic 36 0 0 35 11 31.4 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 92598490 T G SLCO3A1 CCDS10371.1 r.? - - intronic 35 0 0 41 7 17.1 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 92656062 A C SLCO3A1 CCDS10371.1 r.? - - intronic 23 0 0 32 4 12.5 39 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000201 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 92982198 C T ST8SIA2 CCDS10372.1 r.? - - intronic 32 1 3.1 33 10 30.3 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 0.14819814 1 8.14E-16 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 93083665 T G - - - - - - 35 0 0 36 14 38.9 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.50483559 1.50483559 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 93525692 C G CHD2 CCDS10374.2 r.? - - intronic 35 0 0 45 15 33.3 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 9.14E-24 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 93768997 T C - - - - - - 28 0 0 36 6 16.7 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.930957684 0.930957684 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 93814608 T A - - - - - - 37 0 0 34 9 26.5 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 94352268 C T - - - - - - 31 0 0 37 13 35.1 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.357833656 1.357833656 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 94464594 T G - - - - - - 32 0 0 52 12 23.1 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 4.19E-17 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 94682628 C T - - - - - - 33 0 0 30 8 26.7 39 14 35.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 1.599109131 1.599109131 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 94722890 C T - - - - - - 34 0 0 38 9 23.7 44 5 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 0.5077951 0.5077951 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 94764642 A G - - - - - - 46 0 0 36 9 25 41 15 36.6 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.630289532 1.630289532 1 NA NA 1 0 0 1 5 NA 1 1 1.63E-13 1 1.71E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 94826512 G A MCTP2 CCDS32338.1 r.? - - intronic 33 0 0 44 11 25 35 3 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.383073497 0.383073497 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 94900531 A C MCTP2 CCDS32338.1 r.? - - intronic 47 0 0 43 12 27.9 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 95021198 T A MCTP2 CCDS32338.1 r.? - - intronic 27 0 0 43 15 34.9 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.350096712 1.350096712 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.05E-24 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 95045809 T G - - - - - - 34 0 0 37 8 21.6 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 95059893 G A - - - - - - 30 0 0 54 14 25.9 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.001934236 1.001934236 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-20 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 95097864 A T - - - - - - 32 0 0 35 12 34.3 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.32688588 1.32688588 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 95273661 C A - - - - - - 38 0 0 42 10 23.8 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 95451348 G T - - - - - - 24 0 0 41 7 17.1 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 95500804 G A - - - - - - 36 0 0 36 12 33.3 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 95546971 G T - - - - - - 36 0 0 53 12 22.6 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 1.19376392 1.19376392 1 NA NA 1 NA NA 1 5 NA 1 1 5.39E-17 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 95585215 T A - - - - - - 37 0 0 49 11 22.4 31 8 25.8 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.866537718 0.866537718 1 1.14922049 1.14922049 1 NA NA 1 0 0 1 5 NA 1 1 1.19E-15 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 95597046 G T - - - - - - 43 0 0 47 13 27.7 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.071566731 1.071566731 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-19 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 95741938 G T - - - - - - 31 0 0 47 14 29.8 55 13 23.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.152804642 1.152804642 1 1.051224944 1.051224944 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 1.46E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 96010001 C T - - - - - - 32 0 0 41 15 36.6 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.415860735 1.415860735 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.71E-24 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 96052448 A G - - - - - - 43 0 0 41 8 19.5 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.754352031 0.754352031 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 96156641 A T - - - - - - 30 0 0 43 11 25.6 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 96174869 A G - - - - - - 36 0 0 41 12 29.3 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 96660250 A T - - - - - - 41 0 0 44 9 20.5 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 96692109 C G - - - - - - 29 0 0 51 22 43.1 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.667311412 1.667311412 1 0.779510022 0.779510022 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-37 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 97029789 G T - - - - - - 26 0 0 27 7 25.9 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.001934236 1.001934236 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 6.36E-11 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 97177405 A G - - - - - - 37 0 0 35 8 22.9 33 13 39.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 1.755011136 1.755011136 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 97206852 C G - - - - - - 42 0 0 33 7 21.2 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 97276892 T C - - - - - - 31 0 0 39 15 38.5 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.489361702 1.489361702 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 6.85E-25 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 97559480 A T - - - - - - 43 0 0 49 6 12.2 36 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.471953578 0.471953578 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000182 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 97612295 C G - - - - - - 26 0 0 34 10 29.4 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 97699672 A T - - - - - - 39 0 0 50 12 24 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.928433269 0.928433269 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 2.49E-17 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 97732035 T A - - - - - - 44 0 0 43 11 25.6 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 97875508 G A - - - - - - 37 0 0 44 7 15.9 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.615087041 0.615087041 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 97875854 G A - - - - - - 41 0 0 58 14 24.1 44 3 6.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.932301741 0.932301741 1 0.302895323 0.302895323 1 NA NA 1 NA NA 1 5 NA 1 1 5.04E-20 1 0.00142027 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 97875948 C A - - - - - - 29 0 0 34 7 20.6 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 97889061 G A - - - - - - 36 0 0 37 11 29.7 49 9 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.14893617 1.14893617 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 97889160 G T - - - - - - 37 0 0 40 13 32.5 48 14 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 1.300668151 1.300668151 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 2.51E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 97899026 C A - - - - - - 29 0 0 39 16 41 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.586073501 1.586073501 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 5.16E-27 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 97903510 A G - - - - - - 35 0 0 39 7 17.9 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 98170181 G T - - - - - - 31 0 0 33 9 27.3 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.53674833 1.53674833 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 98375946 C T AC027708.1 ENST00000503768 r.? - - intronic 31 0 0 44 12 27.3 36 14 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.732739421 1.732739421 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 98429296 C T - - - - - - 34 0 0 29 10 34.5 42 14 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.334622824 1.334622824 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 98598283 A C - - - - - - 42 0 0 41 11 26.8 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 98642263 A T - - - - - - 29 0 0 49 15 30.6 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 4.1E-23 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 98720551 G T - - - - - - 38 0 0 35 6 17.1 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 0.855233853 0.855233853 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 98722088 T G - - - - - - 36 0 0 30 10 33.3 47 15 31.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.420935412 1.420935412 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 1.97E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 98746051 G A - - - - - - 35 0 0 31 10 32.3 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 98798908 A T - - - - - - 29 0 0 30 4 13.3 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.51450677 0.51450677 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000154 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 98847349 A C - - - - - - 31 0 0 45 9 20 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-12 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 98870924 G A - - - - - - 33 0 0 49 10 20.4 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.789168279 0.789168279 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-14 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 98907178 A G - - - - - - 32 0 0 41 10 24.4 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 98929946 C T - - - - - - 33 0 0 44 9 20.5 46 14 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 1.26E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 99440661 A T IGF1R CCDS10378.1 r.? - - intronic 33 0 0 37 8 21.6 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 99636723 C T - - - - - - 26 0 0 34 11 32.4 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 1.532293987 1.532293987 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 99797869 G A LRRC28 CCDS10380.1 r.? - - intronic 29 0 0 32 7 21.9 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.847195358 0.847195358 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 100030310 T A - - - - - - 28 0 0 42 6 14.3 56 20 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 1.590200445 1.590200445 1 NA NA 1 NA NA 1 5 NA 1 1 7.02E-08 1 6.31E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 100397741 C A - - - - - - 46 0 0 37 9 24.3 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 1.19376392 1.19376392 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 100974269 G T LASS3 CCDS10384.1 r.? - - intronic 28 0 0 45 14 31.1 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.203094778 1.203094778 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 101025720 G A LASS3 CCDS10384.1 r.? - - intronic 38 0 0 40 9 22.5 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 101820935 G A SNRPA1 CCDS10391.1 r.? - - downstream 22 0 0 37 8 21.6 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 102144001 T C - - - - - - 25 0 0 41 13 31.7 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 102150761 G T - - - - - - 46 0 0 41 11 26.8 21 7 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 8.54E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 102453407 C A - - - - - - 35 0 0 50 9 18 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.696324952 0.696324952 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 4.07E-12 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 158732 C T C16orf35 ENST00000405960 r.? - - intronic 19 0 0 36 5 13.9 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.537717602 0.537717602 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000104 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 579195 G A SOLH CCDS10410.1 r.? - - intronic 30 0 0 43 17 39.5 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.528046422 1.528046422 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.84E-28 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 1033575 T A SOX8 CCDS10428.1 r.? - - intronic 30 0 0 33 8 24.2 19 1 5.3 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.236080178 0.236080178 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 0.090843738 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 1144075 C A C1QTNF8 CCDS32358.1 r.? - - intronic 23 0 0 38 7 18.4 21 7 33.3 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 8.54E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 1236795 A G CACNA1H CCDS45375.1 r.? - - intronic 21 0 0 40 10 25 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 1263236 G A CACNA1H CCDS45375.1 r.? - - intronic 28 0 0 36 17 47.2 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.825918762 1.825918762 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 5 NA 1 1 6E-30 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 1325761 G A PRSS29P ENST00000334002 r.? - - intronic 33 0 0 39 9 23.1 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.425389755 1.425389755 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 1669814 G A CRAMP1L CCDS10440.2 r.? - - intronic 20 0 0 40 13 32.5 30 2 6.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 0.29844098 0.29844098 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 1682644 G A CRAMP1L CCDS10440.2 r.? - - intronic 24 0 0 43 10 23.3 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 2891004 C T - - - - - - 36 0 0 38 6 15.8 14 2 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.611218569 0.611218569 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 0.002185852 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 3517072 C G NAT15 CCDS45396.1 r.? - - intronic 29 0 0 38 6 15.8 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.611218569 0.611218569 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 3655303 G C BTBD12 CCDS10506.2 r.? - - intronic 32 0 0 47 11 23.4 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.905222437 0.905222437 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 7.21E-16 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 4167934 C T ADCY9 CCDS32382.1 r.? - - upstream 41 0 0 39 13 33.3 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 4333182 T A - - - - - - 24 0 0 34 10 29.4 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 4806933 A G ZNF500 CCDS32383.1 r.? - - intronic 28 0 0 39 10 25.6 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 4944223 G A PPL CCDS10526.1 r.? - - intronic 28 0 0 32 9 28.1 26 3 11.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 0.512249443 0.512249443 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 5193906 G T - - - - - - 33 0 0 39 9 23.1 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 5289987 A T - - - - - - 22 0 0 24 4 16.7 3 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000613 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 5411063 G T - - - - - - 36 0 0 37 10 27 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 5439458 G T - - - - - - 22 0 0 41 13 31.7 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 1.781737194 1.781737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 5515799 T A - - - - - - 34 0 0 43 11 25.6 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.429844098 1.429844098 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 5588656 T A - - - - - - 26 0 0 31 8 25.8 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 5600426 T A - - - - - - 27 0 0 33 7 21.2 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 1.287305122 1.287305122 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 5654717 T C - - - - - - 36 0 0 42 12 28.6 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 5759914 T A - - - - - - 22 0 0 22 6 27.3 10 2 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-09 1 0.001095391 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 6093944 C T - - - - - - 41 0 0 39 12 30.8 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 6219005 A T - - - - - - 36 0 0 44 12 27.3 45 10 22.2 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 6232973 A T - - - - - - 27 0 0 49 20 40.8 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.578336557 1.578336557 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-33 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 6322822 C T - - - - - - 29 0 0 45 10 22.2 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 6332496 C G - - - - - - 28 0 0 33 11 33.3 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 6449101 C T - - - - - - 32 0 0 30 10 33.3 27 3 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 6556418 G A - - - - - - 25 0 0 39 7 17.9 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 6602020 C A - - - - - - 29 0 0 49 17 34.7 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.342359768 1.342359768 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 4.26E-27 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 6607847 T C - - - - - - 29 0 0 40 6 15 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.580270793 0.580270793 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-08 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 6730516 G A - - - - - - 33 0 0 27 7 25.9 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.001934236 1.001934236 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 6.36E-11 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 6750144 G C - - - - - - 37 0 0 41 10 24.4 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.605790646 0.605790646 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 6810595 G A - - - - - - 43 0 0 28 10 35.7 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.381044487 1.381044487 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 6936837 A T - - - - - - 34 0 0 41 11 26.8 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 6957634 C T - - - - - - 30 0 0 39 16 41 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.586073501 1.586073501 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 5.16E-27 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 7247656 C G - - - - - - 32 0 0 32 9 28.1 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 7351679 A C - - - - - - 37 0 0 42 14 33.3 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-22 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 7414212 G A ENSG00000078328 CCDS45405.1 r.? - - intronic 26 0 0 35 6 17.1 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 7474939 A T ENSG00000078328 CCDS45405.1 r.? - - intronic 36 0 0 35 9 25.7 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 7496622 T G ENSG00000078328 CCDS45405.1 r.? - - intronic 18 0 0 26 7 26.9 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.040618956 1.040618956 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 7526407 A T ENSG00000078328 CCDS45405.1 r.? - - intronic 41 0 0 39 6 15.4 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 0.855233853 0.855233853 1 NA NA 1 NA NA 1 5 NA 1 1 4.43E-08 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 7659247 G T ENSG00000078328 CCDS45405.1 r.? - - intronic 29 0 0 35 8 22.9 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 7714456 C T ENSG00000078328 CCDS45405.1 r.? - - intronic 30 0 0 39 11 28.2 21 2 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 0.423162584 0.423162584 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 7817975 T C - - - - - - 39 0 0 37 9 24.3 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 7874663 A C - - - - - - 33 0 0 60 10 16.7 32 3 9.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.418708241 0.418708241 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-13 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 7888341 A C - - - - - - 29 0 0 38 9 23.7 42 4 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 0.423162584 0.423162584 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 7892792 T C - - - - - - 25 0 0 29 8 27.6 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 7901770 G A - - - - - - 37 0 0 41 7 17.1 37 4 10.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 0.481069042 0.481069042 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 7903447 G T - - - - - - 26 0 0 42 14 33.3 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-22 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 7905122 A C - - - - - - 36 0 0 41 10 24.4 53 10 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 1.57E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 8280859 C G - - - - - - 34 0 0 41 12 29.3 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 8342545 T C - - - - - - 34 0 0 49 11 22.4 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.866537718 0.866537718 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 8347434 C T - - - - - - 27 0 0 35 9 25.7 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 8517987 C T - - - - - - 34 0 0 43 7 16.3 47 15 31.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.630560928 0.630560928 1 1.420935412 1.420935412 1 NA NA 1 NA NA 1 5 NA 1 1 2.15E-09 1 1.97E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 8535976 C A - - - - - - 27 0 0 43 13 30.2 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.16827853 1.16827853 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-20 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 8565972 T C - - - - - - 28 0 0 50 17 34 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.315280464 1.315280464 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 6.43E-27 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 8761655 G T - - - - - - 20 0 0 49 12 24.5 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.947775629 0.947775629 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 8813710 C T ABAT CCDS10534.1 r.? - - intronic 20 0 0 44 11 25 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 8821857 G A ABAT CCDS10534.1 r.? - - intronic 41 0 0 39 10 25.6 28 3 10.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.476614699 0.476614699 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 8854991 G T ABAT CCDS10534.1 r.? - - intronic 26 0 0 41 14 34.1 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-22 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 8926530 G A PMM2 CCDS10536.1 r.? - - intronic 41 0 0 40 8 20 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 9112957 C A - - - - - - 25 0 0 40 9 22.5 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 9339249 C T - - - - - - 31 0 0 37 8 21.6 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 9527574 T A - - - - - - 29 0 0 44 12 27.3 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 9961661 T C GRIN2A CCDS10539.1 r.? - - intronic 16 0 0 31 9 29 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 10152017 C T GRIN2A CCDS10539.1 r.? - - intronic 29 0 0 45 11 24.4 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.650334076 0.650334076 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-16 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 10263510 T A GRIN2A CCDS10539.1 r.? - - intronic 33 0 0 45 10 22.2 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.726057906 0.726057906 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 10275112 C G GRIN2A CCDS10539.1 r.? - - intronic 28 0 0 42 11 26.2 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.013539652 1.013539652 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 10388926 A C - - - - - - 32 0 0 48 17 35.4 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.393904011 3.160996228 1 2 1 1 0.606095989 0.839003772 2 2 1 2 0.393904011 0.160996228 1.508881091 1.082485652 1.393904011 1.729524477 1.729524477 1 NA NA 0 NA NA 0 5 NA 1 1 2.8E-27 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 10452937 G T - - - - - - 30 0 0 28 6 21.4 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.393904011 3.160996228 1 2 1 1 0.606095989 0.839003772 2 2 1 2 0.393904011 0.160996228 0.912148456 0.912148456 1 1.089375807 1.089375807 1 NA NA 0 NA NA 0 5 NA 1 1 5.36E-09 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 10491292 T A ATF7IP2 CCDS10540.1 r.? - - intronic 31 0 0 47 14 29.8 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.393904011 3.160996228 1 2 1 1 0.606095989 0.839003772 2 2 1 2 0.393904011 0.160996228 1.270188037 1.270188037 1 0.85353156 0.85353156 1 NA NA 0 NA NA 0 5 NA 1 1 1.79E-21 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 10491483 C T ATF7IP2 CCDS10540.1 r.? - - intronic 32 0 0 31 8 25.8 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.393904011 3.160996228 1 2 1 1 0.606095989 0.839003772 2 2 1 2 0.393904011 0.160996228 1.099692999 1.099692999 1 1.403834803 1.403834803 1 NA NA 0 NA NA 0 5 NA 1 1 2.78E-12 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 10530605 G C ATF7IP2 CCDS10540.1 r.? - - intronic 41 0 0 39 12 30.8 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.393904011 3.160996228 1 2 1 1 0.606095989 0.839003772 2 2 1 2 0.393904011 0.160996228 1.312811797 1.312811797 1 0.937761648 0.937761648 1 NA NA 0 NA NA 0 5 NA 1 1 8.43E-19 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 10851173 A G FAM18A CCDS45408.1 r.? - - downstream 27 0 0 35 14 40 46 17 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.393904011 3.160996228 1 2 1 1 0.606095989 0.839003772 2 2 1 2 0.393904011 0.160996228 1.704950386 1.223147629 1.393904011 2.077675508 1.038837754 2 NA NA 0 NA NA 0 5 NA 1 1 1.28E-23 1 1.16E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 10967960 C T CIITA CCDS10544.1 r.? - - upstream 35 0 0 39 11 28.2 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.393904011 3.160996228 1 2 1 1 0.606095989 0.839003772 2 2 1 2 0.393904011 0.160996228 1.201990022 1.201990022 1 1.622833032 1.622833032 1 NA NA 0 NA NA 0 5 NA 1 1 7.2E-17 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 11529942 G C - - - - - - 32 0 0 39 14 35.9 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.393904011 3.160996228 1 2 1 1 0.606095989 0.839003772 2 2 1 2 0.393904011 0.160996228 1.530192971 1.530192971 1 0.892838935 0.892838935 1 NA NA 0 NA NA 0 5 NA 1 1 8.19E-23 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 12274345 C G SNX29 CCDS45416.1 r.? - - intronic 23 0 0 38 11 28.9 54 8 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.393904011 3.160996228 1 2 1 1 0.606095989 0.839003772 2 2 1 2 0.393904011 0.160996228 1.231826654 1.231826654 1 0.831070203 0.831070203 1 NA NA 0 NA NA 0 5 NA 1 1 5.19E-17 1 3.31E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 12644045 T C SNX29 CCDS45416.1 r.? - - intronic 38 0 0 52 12 23.1 44 17 38.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.393904011 3.160996228 1 2 1 1 0.606095989 0.839003772 2 2 1 2 0.393904011 0.160996228 0.984608848 0.984608848 1 2.167520936 1.083760468 2 NA NA 0 NA NA 0 5 NA 1 1 4.19E-17 1 4.61E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 13086823 C T SHISA9 CCDS45417.1 r.? - - intronic 27 0 0 47 10 21.3 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.393904011 3.160996228 1 2 1 1 0.606095989 0.839003772 2 2 1 2 0.393904011 0.160996228 0.90788608 0.90788608 1 0.982684362 0.982684362 1 NA NA 0 NA NA 0 5 NA 1 1 4.27E-14 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 13096283 G C SHISA9 CCDS45417.1 r.? - - intronic 32 0 0 42 13 31 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.393904011 3.160996228 1 2 1 1 0.606095989 0.839003772 2 2 1 2 0.393904011 0.160996228 1.321336549 1.321336549 1 1.667755746 0.906880003 1.839003772 NA NA 0 NA NA 0 5 NA 1 1 2.72E-20 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 13130636 A T SHISA9 CCDS45417.1 r.? - - intronic 28 0 0 41 10 24.4 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.393904011 3.160996228 1 2 1 1 0.606095989 0.839003772 2 2 1 2 0.393904011 0.160996228 1.040019735 1.040019735 1 0.892838935 0.892838935 1 NA NA 0 NA NA 0 5 NA 1 1 9.51E-15 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 13268753 C T SHISA9 CCDS45417.1 r.? - - intronic 29 0 0 53 7 13.2 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.393904011 3.160996228 1 2 1 1 0.606095989 0.839003772 2 2 1 2 0.393904011 0.160996228 0.562633627 0.562633627 1 1.297143358 1.297143358 1 NA NA 0 NA NA 0 5 NA 1 1 9.85E-09 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 13325728 G A SHISA9 CCDS45417.1 r.? - - intronic 34 0 0 52 13 25 37 14 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.683741648 1.683741648 1 NA NA 1 NA NA 1 5 NA 1 1 6.47E-19 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 13446446 G A - - - - - - 26 0 0 34 6 17.6 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-08 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 13607730 T G - - - - - - 36 0 0 30 7 23.3 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.429844098 1.429844098 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 13719418 T C - - - - - - 37 0 0 37 13 35.1 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.357833656 1.357833656 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 13783325 T C - - - - - - 27 0 0 42 10 23.8 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 13786859 T C - - - - - - 31 0 0 30 7 23.3 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 13791702 T C - - - - - - 30 0 0 51 11 21.6 41 10 24.4 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-15 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 13843897 T G - - - - - - 33 0 0 46 11 23.9 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.924564797 0.924564797 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 5.55E-16 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 13918767 A T - - - - - - 25 0 0 45 7 15.6 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000003 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 13992868 C T - - - - - - 30 0 0 27 9 33.3 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 14009991 A T ERCC4 CCDS32390.1 r.? - - upstream 34 0 0 36 13 36.1 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.396518375 1.396518375 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 2.53E-21 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 14022403 A G ERCC4 CCDS32390.1 r.? - - intronic 37 0 0 33 10 30.3 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 0.792873051 0.792873051 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 14714264 G T PARN CCDS45419.1 r.? - - intronic 41 0 0 50 11 22 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 15887721 C A MYH11 CCDS45424.1 r.? - - intronic 29 0 0 35 8 22.9 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 15941904 C T MYH11 CCDS45424.1 r.? - - intronic 25 0 0 42 18 42.9 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.659574468 1.659574468 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-30 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 16104727 C T ABCC1 CCDS42122.1 r.? - - intronic 29 0 0 37 11 29.7 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.14893617 1.14893617 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 16104729 C T ABCC1 CCDS42122.1 r.? - - intronic 35 0 0 39 12 30.8 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 16205686 G A ABCC1 CCDS42122.1 r.? - - intronic 21 0 0 35 6 17.1 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 16314718 C A ABCC6 CCDS10568.1 r.? - - intronic 18 0 0 28 6 21.4 25 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.36E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 16549567 A T - - - - - - 42 0 0 36 5 13.9 54 4 7.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.537717602 0.537717602 1 0.329621381 0.329621381 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000104 1 0.000161898 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 16640410 T A - - - - - - 31 0 0 52 10 19.2 46 14 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.742746615 0.742746615 1 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-13 1 1.26E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 16795660 G A - 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- - - - - 35 0 0 47 12 25.5 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 0.757238307 0.757238307 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 18123842 C A - - - - - - 27 0 0 31 10 32.3 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 18147019 A T - - - - - - 27 0 0 24 11 45.8 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.771760155 1.771760155 1 0.659242762 0.659242762 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-19 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 18202423 T A - - - - - - 25 0 0 20 6 30 17 6 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.572383073 1.572383073 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-10 1 1.84E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 18576490 A T NOMO2 CCDS10570.1 r.? - - upstream 20 0 0 26 7 26.9 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.040618956 1.040618956 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 18762671 C T - - - - - - 19 0 0 15 5 33.3 18 3 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000009 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 19351189 T C - - - - - - 33 0 0 38 7 18.4 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 19479049 C G TMC5 CCDS45431.1 r.? - - intronic 28 0 0 31 6 19.4 33 3 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.405345212 0.405345212 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-08 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 19792423 T G IQCK CCDS10580.1 r.? - - intronic 36 0 0 35 8 22.9 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 20257059 A T - - - - - - 30 0 0 39 11 28.2 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 20969543 C T DNAH3 CCDS10594.1 r.? - - intronic 25 0 0 27 10 37 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.431334623 1.431334623 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 21127784 G A DNAH3 CCDS10594.1 r.? - - intronic 31 0 0 34 6 17.6 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-08 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 21347141 C A - - - - - - 46 0 0 40 9 22.5 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 21642522 A C METTL9 CCDS10598.2 r.? - - intronic 42 0 0 43 13 30.2 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.16827853 1.16827853 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-20 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 21784572 C G - - - - - - 55 0 0 53 15 28.3 49 7 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.094777563 1.094777563 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-22 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 21977041 C G UQCRC2 CCDS10601.1 r.? - - intronic 36 0 0 38 9 23.7 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 22219673 A G EEF2K CCDS10604.1 r.? - - intronic 28 0 0 40 13 32.5 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 22313279 C T POLR3E CCDS10605.1 r.? - - intronic 34 0 0 31 12 38.7 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.497098646 1.497098646 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 22331353 G A POLR3E CCDS10605.1 r.? - - intronic 35 0 0 54 20 37 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.431334623 1.431334623 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-32 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 22999529 G A - - - - - - 33 0 0 40 14 35 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.353965184 1.353965184 1 1.407572383 1.407572383 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-22 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 23286691 C A - - - - - - 33 0 0 48 15 31.2 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 1.167037862 1.167037862 1 NA NA 1 NA NA 1 5 NA 1 1 2.86E-23 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 23843003 A T PRKCB CCDS10619.1 r.? - - upstream 34 0 0 45 16 35.6 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.377176015 1.377176015 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-26 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 24051244 T A PRKCB CCDS10619.1 r.? - - intronic 21 0 0 36 9 25 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 24163178 T A PRKCB CCDS10619.1 r.? - - intronic 32 0 0 40 8 20 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 24186785 T A PRKCB CCDS10619.1 r.? - - intronic 37 0 0 36 7 19.4 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 24441048 T C - - - - - - 31 0 0 36 10 27.8 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 24465982 G C - - - - - - 35 0 0 33 11 33.3 33 1 3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.13363029 0.13363029 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 24826575 T C TNRC6A CCDS10624.2 r.4909u>c c.4780T>C p.W1594R missense 22 0 0 33 8 24.2 39 4 10.3 253 0 0 117 37 31.6 25 11 44 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.458797327 0.458797327 1 1.222437137 1.222437137 1 1.959910913 1.959910913 1 5 4 1 1 4.85E-12 1.98E-55 0.0000447 2.04E-19 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 16 24896735 A T SLC5A11 CCDS10625.1 r.? - - intronic 32 0 0 35 7 20 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 25039200 A T AC133552.2 ENST00000500975 r.? - - downstream 20 0 0 32 11 34.4 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.330754352 1.330754352 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 25330302 A T - - - - - - 25 0 0 31 9 29 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 25417342 T C - - - - - - 42 0 0 35 9 25.7 21 3 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 25605830 A C - - - - - - 41 0 0 44 12 27.3 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 25830391 C T HS3ST4 ENST00000331351 r.? - - intronic 29 0 0 34 8 23.5 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 25912223 T A HS3ST4 ENST00000331351 r.? - - intronic 32 0 0 33 5 15.2 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.588007737 0.588007737 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000066 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 25970931 C T HS3ST4 ENST00000331351 r.? - - intronic 32 0 0 41 12 29.3 29 3 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 0.458797327 0.458797327 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 25971456 T C HS3ST4 ENST00000331351 r.? - - intronic 31 0 0 36 11 30.6 34 3 8.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 0.391982183 0.391982183 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 26056225 C T HS3ST4 ENST00000331351 r.? - - intronic 25 0 0 28 7 25 20 3 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 26077820 C T HS3ST4 ENST00000331351 r.? - - intronic 38 0 0 40 10 25 42 14 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 26265037 C T - - - - - - 26 0 0 42 6 14.3 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.726057906 0.726057906 1 NA NA 1 NA NA 1 5 NA 1 1 7.02E-08 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 26274679 T G - - - - - - 40 0 0 37 6 16.2 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.626692456 0.626692456 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-08 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 26919070 C G - - - - - - 28 0 0 26 7 26.9 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.040618956 1.040618956 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 26942353 G T - - - - - - 30 0 0 28 6 21.4 44 9 20.5 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 27008874 G T - - - - - - 30 0 0 31 5 16.1 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.622823985 0.622823985 1 0.516703786 0.516703786 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000476 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 27463771 G A IL21R CCDS10630.1 r.? - - downstream 18 0 0 31 5 16.1 40 4 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.622823985 0.622823985 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000476 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 27713215 A G KIAA0556 CCDS32415.1 r.? - - intronic 28 0 0 29 7 24.1 60 14 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.932301741 0.932301741 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 8.54E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 27941888 A C GSG1L CCDS45450.1 r.? - - intronic 34 0 0 32 4 12.5 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000201 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 28040639 A C GSG1L CCDS45450.1 r.? - - intronic 25 0 0 46 17 37 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.431334623 1.431334623 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.16E-27 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 28344161 G T - - - - - - 27 0 0 41 8 19.5 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.754352031 0.754352031 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 28381077 G C - - - - - - 22 0 0 41 10 24.4 34 3 8.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.391982183 0.391982183 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 28957048 A G - - - - - - 30 0 0 33 7 21.2 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 29634235 G A - - - - - - 32 0 0 30 8 26.7 35 4 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 0.5077951 0.5077951 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 29942570 A T AC120114.2 ENST00000450909 r.? - - downstream 26 0 0 43 5 11.6 32 1 3.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.448742747 0.448742747 1 0.138084633 0.138084633 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000257 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 29995320 G T TAOK2 CCDS10663.1 r.? - - intronic 20 0 0 46 13 28.3 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.094777563 1.094777563 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.07E-19 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 30947139 G C FBXL19 CCDS45465.1 r.? - - intronic 24 0 0 47 12 25.5 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 31045083 G A STX4 CCDS10700.1 r.272g>a c.? p.? 5'UTR variant 16 0 0 32 8 25 11 3 27.3 3 0 0 4 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.216035635 1.216035635 1 0 0 1 NA NA 1 5 NA 1 1 3.69E-12 1 0.00002 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 31255086 G T - - - - - - 30 0 0 34 6 17.6 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-08 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 31463636 G C - - - - - - 23 0 0 44 8 18.2 43 14 32.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 1.452115813 1.452115813 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 4.18E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 31709995 C G - - - - - - 25 0 0 36 7 19.4 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 31938095 G T - - - - - - 28 0 0 38 10 26.3 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 32215426 G A - - - - - - 51 0 0 43 11 25.6 57 11 19.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.859688196 0.859688196 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 7.29E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 32928002 A C ENSG00000230462 ENST00000423205 r.? - - upstream 21 0 0 22 8 36.4 22 2 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.408123791 1.408123791 1 0.405345212 0.405345212 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-13 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 32947694 G C ENSG00000230462 ENST00000423205 r.? - - intronic 45 0 0 36 7 19.4 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.53674833 1.53674833 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 33015207 C A ENSG00000205454 ENST00000411420 r.? - - intronic 30 0 0 30 10 33.3 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 33605580 G A - - - - - - 28 0 0 38 9 23.7 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 33855337 C A - - - - - - 31 0 0 47 7 14.9 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.576402321 0.576402321 1 0.650334076 0.650334076 1 NA NA 1 NA NA 1 5 NA 1 1 4.12E-09 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 34206938 G T - - - - - - 33 0 0 30 5 16.7 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 34292358 G T CCNYL3 ENST00000407030 r.? - - intronic 24 0 0 35 10 28.6 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 34415838 G A - - - - - - 38 0 0 52 9 17.3 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.669245648 0.669245648 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-12 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 34679522 A C ENSG00000214581 ENST00000398617 r.? - - downstream 45 0 0 38 19 50 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.934235977 1.934235977 1 0.85077951 0.85077951 1 NA NA 1 NA NA 1 5 NA 1 1 6.16E-34 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 34720021 G A - - - - - - 41 0 0 49 13 26.5 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 2.71E-19 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 34741070 G T - - - - - - 29 0 0 37 6 16.2 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.626692456 0.626692456 1 1.53674833 1.53674833 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-08 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 34851528 A T - - - - - - 30 0 0 50 13 26 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.005802708 1.005802708 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 3.65E-19 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 46639319 G C SHCBP1 CCDS10720.1 r.? - - intronic 27 0 0 33 8 24.2 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 46667120 A G - - - - - - 27 0 0 36 11 30.6 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 46887639 G A - - - - - - 32 0 0 27 10 37 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.431334623 1.431334623 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 47215010 T C ITFG1 CCDS10728.1 r.? - - intronic 20 0 0 33 6 18.2 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 48004068 C T - - - - - - 35 0 0 46 15 32.6 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-23 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 48065337 T A - - - - - - 37 0 0 44 13 29.5 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 48182696 C A ABCC12 CCDS10730.1 r.? - - upstream 34 0 0 45 13 28.9 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.948775056 0.948775056 1 NA NA 1 NA NA 1 5 NA 1 1 7.68E-20 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 48766318 G C - - - - - - 30 0 0 41 13 31.7 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 48814167 C T - - - - - - 37 0 0 45 8 17.8 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.688588008 0.688588008 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 48824584 A T - - - - - - 35 0 0 30 10 33.3 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.532293987 1.532293987 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 48934852 T C - - - - - - 22 0 0 38 9 23.7 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 48964550 C T - - - - - - 26 0 0 25 6 24 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.928433269 0.928433269 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 49027894 C G - - - - - - 27 0 0 35 6 17.1 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 49138515 G A - - - - - - 23 0 0 45 10 22.2 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 49174712 C A - - - - - - 28 0 0 28 8 28.6 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 49199867 A T - - - - - - 36 0 0 34 13 38.2 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.477756286 1.477756286 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 49647166 T A ZNF423 CCDS32445.1 r.? - - intronic 31 0 0 45 10 22.2 34 4 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.525612472 0.525612472 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 49654644 C A ZNF423 CCDS32445.1 r.? - - intronic 29 0 0 43 12 27.9 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 49895340 G A - - - - - - 32 0 0 42 9 21.4 46 17 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.648106904 1.648106904 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 1.16E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 50536749 T C - - - - - - 25 0 0 27 8 29.6 21 4 19 0 0 NA 0 0 NA 2 2 100 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.145067698 1.145067698 1 0.846325167 0.846325167 1 NA NA 1 4.454342984 4.454342984 1 5 NA 1 1 7.97E-13 1 0.00000349 0.000025 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 50640613 G A NKD1 CCDS10743.1 r.? - - intronic 35 0 0 31 9 29 38 9 23.7 177 0 0 206 37 18 2 2 100 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 1.055679287 1.055679287 1 0.696324952 0.696324952 1 4.454342984 4.454342984 1 5 4 1 1 3.57E-14 3.04E-45 2.79E-13 0.000025 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 50861456 T C - - - - - - 52 0 0 44 11 25 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 51100825 G T - - - - - - 42 0 0 32 8 25 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 51120003 G T - - - - - - 24 0 0 20 6 30 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-10 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 51171536 A G SALL1 CCDS45483.1 r.? - - intronic 32 0 0 47 9 19.1 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.738878143 0.738878143 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-12 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 51256189 A C - - - - - - 34 0 0 46 16 34.8 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.34622824 1.34622824 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.31E-25 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 51285689 G A - - - - - - 45 0 0 37 11 29.7 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.14893617 1.14893617 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 51349751 A G - - - - - - 24 0 0 43 12 27.9 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 51356701 T G - - - - - - 24 0 0 43 14 32.6 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 51535971 C T - - - - - - 34 0 0 41 9 22 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 51563168 C A - - - - - - 40 0 0 46 7 15.2 52 12 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.588007737 0.588007737 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 3.53E-09 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 51685245 G C - - - - - - 35 0 0 33 9 27.3 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 51686409 A G - - - - - - 42 0 0 44 11 25 50 16 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.425389755 1.425389755 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 6.4E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 51940485 A C - - - - - - 34 0 0 48 15 31.2 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 2.86E-23 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 52064018 G C - - - - - - 39 0 0 47 15 31.9 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.234042553 1.234042553 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 1.97E-23 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 52076060 C A - - - - - - 32 0 0 34 7 20.6 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 52076438 A C - - - - - - 33 0 0 38 12 31.6 22 4 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 52110803 T C - - - - - - 33 0 0 43 14 32.6 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 1.287305122 1.287305122 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 52279313 T A - - - - - - 28 0 0 40 8 20 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 52569717 G A TOX3 ENST00000219746 r.? - - intronic 29 0 0 30 11 36.7 30 12 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 1.94E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 54377137 C A ENSG00000227093 ENST00000449142 r.? - - intronic 34 0 0 33 5 15.2 29 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.436007737 0.436007737 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000066 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 54377138 C A ENSG00000227093 ENST00000449142 r.? - - intronic 32 0 0 32 5 15.6 28 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.447481625 0.447481625 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000562 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 54475778 T C ENSG00000227093 ENST00000449142 r.? - - intronic 33 0 0 30 9 30 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 0.777227171 0.777227171 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 54747614 G T - - - - - - 38 0 0 30 12 40 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 54860296 C G - - - - - - 28 0 0 29 7 24.1 29 12 41.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.691301741 0.691301741 1 1.430097996 1.430097996 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 1.17E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 55034994 G A - - - - - - 37 0 0 33 15 45.5 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 2.91E-26 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 56289366 C A GNAO1 CCDS10756.1 r.? - - intronic 34 0 0 29 7 24.1 20 8 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.691301741 0.691301741 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 4.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 56364875 G C GNAO1 CCDS10756.1 r.? - - intronic 30 0 0 31 12 38.7 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.110098646 1.110098646 1 1.357556793 1.357556793 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 56753929 G T MT1A CCDS32454.1 r.? - - intronic 38 0 0 24 15 62.5 29 13 44.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.792794971 1.792794971 1 1.547545657 1.547545657 1 NA NA 1 NA NA 1 5 NA 1 1 3.82E-29 1 7.69E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 57403920 G C CX3CL1 CCDS10779.1 r.? - - upstream 28 0 0 27 4 14.8 37 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.424533849 0.424533849 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00001 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 59280925 C A - - - - - - 27 0 0 25 10 40 21 10 47.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.644267261 1.644267261 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 3.28E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 59323071 T G - - - - - - 48 0 0 23 8 34.8 42 14 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 59347050 T C - - - - - - 21 0 0 27 11 40.7 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 60005441 C T AC009094.1 ENST00000500445 r.? - - intronic 40 0 0 35 11 31.4 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.900700193 0.900700193 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 60341482 C G - - - - - - 43 0 0 36 11 30.6 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.877752418 0.877752418 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 60488647 T A - - - - - - 41 0 0 36 7 19.4 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.556483559 0.556483559 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 60849122 T A - - - - - - 36 0 0 28 12 42.9 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 60852468 T C - - - - - - 36 0 0 26 9 34.6 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 60992715 A G - - - - - - 42 0 0 25 7 28 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 61033346 A G - - - - - - 31 0 0 28 8 28.6 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 61046517 C A - - - - - - 43 0 0 37 9 24.3 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.697038685 0.697038685 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 61076906 T G - - - - - - 34 0 0 23 10 43.5 23 10 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.2477853 1.2477853 1 1.502639198 1.502639198 1 NA NA 1 NA NA 1 5 NA 1 1 1.05E-17 1 1.05E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 61632697 G T - - - - - - 32 0 0 33 14 42.4 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.216232108 1.216232108 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 4.57E-24 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 61757179 G C CDH8 CCDS10802.1 r.? - - intronic 42 0 0 32 8 25 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.001759465 1.001759465 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 62261761 C G - - - - - - 42 0 0 29 14 48.3 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.385471954 1.385471954 1 0.594146993 0.594146993 1 NA NA 1 NA NA 1 5 NA 1 1 4.41E-25 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 62578357 C G - - - - - - 43 0 0 21 8 38.1 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.092887814 1.092887814 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 7.5E-14 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 62945147 T A - - - - - - 49 0 0 37 11 29.7 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.85193617 0.85193617 1 0.618327394 0.618327394 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 63252749 G T - - - - - - 36 0 0 34 11 32.4 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 63513096 C T - - - - - - 44 0 0 31 11 35.5 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 63703249 G T - - - - - - 26 0 0 27 10 37 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 1.202111359 1.202111359 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 64601967 G A - - - - - - 42 0 0 36 14 38.9 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.11583559 1.11583559 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 64659501 G A - - - - - - 26 0 0 31 12 38.7 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.110098646 1.110098646 1 0.839405345 0.839405345 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 65100337 A T CDH11 CCDS10803.1 r.? - - intronic 30 0 0 30 12 40 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.835951002 0.835951002 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 65181750 A T - - - - - - 38 0 0 36 16 44.4 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.273601547 1.273601547 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.01E-27 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 65183176 G T - - - - - - 40 0 0 39 14 35.9 19 8 42.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.029781431 1.029781431 1 1.454278396 1.454278396 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 2.81E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 66239130 A T - - - - - - 35 0 0 32 12 37.5 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 66360295 A G - - - - - - 36 0 0 31 14 45.2 24 13 54.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.296549323 1.296549323 1 1.872253898 1.872253898 1 NA NA 1 NA NA 1 5 NA 1 1 1.49E-24 1 2.9E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 66623190 C A CMTM2 CCDS10814.1 r.? - - downstream 31 0 0 29 13 44.8 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.285075435 1.285075435 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 7.69E-23 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 67185049 A T C16orf70 CCDS10828.1 r.? - - downstream 23 0 0 33 14 42.4 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.216232108 1.216232108 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 4.57E-24 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 67296902 A C SLC9A5 CCDS42178.1 r.? - - intronic 31 0 0 31 14 45.2 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.296549323 1.296549323 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 1.49E-24 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 67411674 A T LRRC36 CCDS32467.1 r.? - - intronic 43 0 0 33 13 39.4 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.13017795 1.13017795 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 68161015 C A NFATC3 CCDS10862.1 r.? - - intronic 20 0 0 39 10 25.6 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.73432882 0.73432882 1 0.732320713 0.732320713 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 68960461 C T TMCO7 CCDS45516.1 r.? - - intronic 34 0 0 28 8 28.6 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 68971777 A C TMCO7 CCDS45516.1 r.? - - intronic 35 0 0 41 13 31.7 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.909305609 0.909305609 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 69782203 C T NOB1 CCDS10884.1 r.772g>a c.756G>A p.V252V silent 40 0 0 34 11 32.4 19 4 21.1 225 0 0 176 50 28.4 17 3 17.6 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 0.72886637 0.72886637 1 0.814646035 0.814646035 1 0.607964365 0.607964365 1 5 5 1 1 1.26E-17 1.31E-71 0.00000228 0.0000807 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 70294975 C T AARS CCDS32474.1 r.1864g>a c.1757G>A p.G586E missense 32 0 0 24 10 41.7 28 11 39.3 252 0 0 76 21 27.6 11 0 0 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 1.357556793 1.357556793 1 0.791698259 0.791698259 1 0 0 1 5 5 1 1 1.8E-17 1.07E-30 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 70736782 C T VAC14 CCDS10896.1 r.? - - intronic 33 0 0 26 12 46.2 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.325234043 1.325234043 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-21 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 70971532 G A HYDIN2 CCDS42189.1 r.? - - intronic 31 0 0 56 9 16.1 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.461823985 0.461823985 1 0.749592428 0.749592428 1 NA NA 1 NA NA 1 2 NA 1 1 1.2E-11 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 71156079 C G HYDIN2 CCDS42189.1 r.? - - intronic 70 0 0 81 16 19.8 74 9 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.567957447 0.567957447 1 0.421429844 0.421429844 1 NA NA 1 NA NA 1 4 NA 1 1 3.77E-21 1 1.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 71156080 T G HYDIN2 CCDS42189.1 r.? - - intronic 69 0 0 81 16 19.8 74 9 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.567957447 0.567957447 1 0.421429844 0.421429844 1 NA NA 1 NA NA 1 4 NA 1 1 3.77E-21 1 1.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 71197437 G T HYDIN2 CCDS42189.1 r.? - - intronic 75 0 0 64 8 12.5 83 6 7.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.358558994 0.358558994 1 0.248712695 0.248712695 1 NA NA 1 NA NA 1 3 NA 1 1 1.35E-09 1 0.00000424 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 72188627 T A PMFBP1 CCDS32483.1 r.? - - intronic 40 0 0 31 14 45.2 36 13 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.296549323 1.296549323 1 1.247017817 1.247017817 1 NA NA 1 NA NA 1 5 NA 1 1 1.49E-24 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 72267288 G A - - - - - - 28 0 0 47 24 51.1 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.465789168 1.465789168 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 8.6E-43 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 72463126 C A - - - - - - 30 0 0 28 13 46.4 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.330970986 1.330970986 1 0.53196882 0.53196882 1 NA NA 1 NA NA 1 5 NA 1 1 4.26E-23 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 72740769 T C - - - - - - 35 0 0 37 20 54.1 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.551843327 1.551843327 1 1.025939866 1.025939866 1 NA NA 1 NA NA 1 5 NA 1 1 1.4E-36 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 72845439 G A ZFHX3 CCDS10908.1 r.? - - intronic 29 0 0 27 8 29.6 16 7 43.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 1.513002227 1.513002227 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 8.59E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 72901361 A T ZFHX3 CCDS10908.1 r.? - - intronic 38 0 0 26 9 34.6 33 13 39.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.361011136 1.361011136 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 73041181 G A ZFHX3 CCDS10908.1 r.? - - intronic 34 0 0 20 5 25 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 4.55E-08 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 73533483 G A - - - - - - 26 0 0 31 10 32.3 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 0.732320713 0.732320713 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 73751596 T C - - - - - - 38 0 0 29 5 17.2 30 1 3.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.493377176 0.493377176 1 0.113993318 0.113993318 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000336 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 74113047 G T - - - - - - 37 0 0 26 8 30.8 28 3 10.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 0.369614699 0.369614699 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 75966196 T G - - - - - - 32 0 0 33 8 24.2 19 3 15.8 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.694170213 0.694170213 1 0.545786192 0.545786192 1 NA NA 1 0 0 1 5 NA 1 1 4.85E-12 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 76028329 C T - - - - - - 37 0 0 37 13 35.1 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.006833656 1.006833656 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 76191689 C A - - - - - - 20 0 0 30 10 33.3 29 12 41.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.430097996 1.430097996 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 1.17E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 76847293 T C - - - - - - 40 0 0 34 13 38.2 16 4 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.095756286 1.095756286 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 0.00000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 76933152 C T - - - - - - 35 0 0 25 5 20 30 17 56.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 1.958612472 1.958612472 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000153 1 8.59E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 77052597 C T - - - - - - 47 0 0 35 12 34.3 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.98388588 0.98388588 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 77098836 C G - - - - - - 25 0 0 27 5 18.5 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.530667311 0.530667311 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000023 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 77719605 A G - - - - - - 27 0 0 19 6 31.6 25 11 44 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.906437137 0.906437137 1 1.519910913 1.519910913 1 NA NA 1 NA NA 1 5 NA 1 1 4.01E-10 1 2.04E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 77904559 G T VAT1L CCDS32492.1 r.? - - intronic 28 0 0 25 12 48 21 11 52.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.376866538 1.376866538 1 1.810075724 1.810075724 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-21 1 1.64E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 79569851 T A - - - - - - 26 0 0 34 12 35.3 23 11 47.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.0125706 1.0125706 1 1.651175947 1.651175947 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 6.25E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 80038314 G C - - - - - - 31 1 3.2 19 8 42.1 39 15 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.207626692 1.207626692 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 0.143917729 1 2.81E-14 1 6.85E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 80330788 T G - - - - - - 32 0 0 32 9 28.1 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.806040619 0.806040619 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 80520599 T C - - - - - - 35 0 0 22 9 40.9 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.173205029 1.173205029 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 9.16E-16 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 80564434 G C - - - - - - 24 0 0 26 8 30.8 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 80923802 A C - - - - - - 16 0 0 23 12 52.2 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.49734236 1.49734236 1 0.576875278 0.576875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.14E-22 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 82107479 A C HSD17B2 CCDS10936.1 r.? - - intronic 32 0 0 29 9 31 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 82703269 T G - - - - - - 35 0 0 30 10 33.3 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 82889299 G A CDH13 ENST00000268613 r.? - - intronic 26 0 0 22 7 31.8 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 83128870 T C CDH13 ENST00000268613 r.? - - intronic 35 0 0 29 12 41.4 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 83331502 T C CDH13 ENST00000268613 r.? - - intronic 27 0 0 25 13 52 22 7 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.491605416 1.491605416 1 1.098481069 1.098481069 1 NA NA 1 NA NA 1 5 NA 1 1 6E-24 1 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 83433564 A G CDH13 ENST00000268613 r.? - - intronic 34 0 0 30 11 36.7 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 83510625 A T CDH13 ENST00000268613 r.? - - intronic 39 0 0 28 4 14.3 26 1 3.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.410191489 0.410191489 1 0.131265033 0.131265033 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000116 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 83647693 A C CDH13 ENST00000268613 r.? - - intronic 30 0 0 30 11 36.7 37 14 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 1.305741648 1.305741648 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 83888863 C G ENSG00000229561 ENST00000412414 r.? - - intronic 26 0 0 33 7 21.2 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.608116054 0.608116054 1 1.057028953 1.057028953 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 84673238 C A - - - - - - 39 0 0 37 9 24.3 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.697038685 0.697038685 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 84907275 A G CRISPLD2 CCDS10949.1 r.? - - intronic 36 0 0 25 12 48 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.376866538 1.376866538 1 0.949944321 0.949944321 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-21 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 85333971 G A AC092275.1 ENST00000505771 r.? - - intronic 23 0 0 30 10 33.3 17 4 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 85652763 C A KIAA0182 CCDS10952.1 r.? - - intronic 22 0 0 40 18 45 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.290812379 1.290812379 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 3.9E-31 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 85932900 C T IRF8 CCDS10956.1 r.? - - intronic 22 0 0 27 9 33.3 13 2 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.53196882 0.53196882 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 0.001879825 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 86196997 C A - - - - - - 27 0 0 32 9 28.1 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.806040619 0.806040619 1 0.832496659 0.832496659 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 86842360 C T - - - - - - 43 0 0 33 9 27.3 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 87186208 G T - - - - - - 33 0 0 34 6 17.6 20 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.504851064 0.504851064 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.86E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 87218033 G T - - - - - - 23 0 0 33 10 30.3 21 8 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 1.316104677 1.316104677 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 7.5E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 87704050 G T JPH3 CCDS10962.1 r.? - - intronic 39 0 0 34 11 32.4 27 1 3.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 0.12781069 0.12781069 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 88010561 G C BANP CCDS10966.2 r.? - - intronic 34 0 0 35 11 31.4 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.900700193 0.900700193 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 89041979 C T CBFA2T3 CCDS10972.1 r.? - - intronic 25 0 0 26 11 42.3 26 11 42.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.461187082 1.461187082 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 3.52E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 89645450 G A CPNE7 CCDS10980.1 r.? - - intronic 20 0 0 34 12 35.3 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.0125706 1.0125706 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 89760078 C T SPATA2L CCDS10985.1 r.? - - downstream 22 0 0 28 13 46.4 24 10 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.330970986 1.330970986 1 1.440461024 1.440461024 1 NA NA 1 NA NA 1 5 NA 1 1 4.26E-23 1 1.8E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 1384444 A C MYO1C CCDS42226.1 r.? - - intronic 25 0 0 43 18 41.9 30 16 53.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.620889749 0.810444874 2 2.374164811 1.187082405 2 NA NA 1 NA NA 1 5 NA 1 1 2.06E-30 1 2.08E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 1875708 C T RTN4RL1 CCDS45569.1 r.? - - intronic 26 0 0 33 14 42.4 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.640232108 0.820116054 2 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 4.57E-24 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 2425483 G C - - - - - - 24 0 0 31 8 25.8 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 2460367 C G - - - - - - 35 0 0 45 21 46.7 42 21 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.806576402 0.903288201 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 1.6E-36 1 2.32E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 2998440 C G OR1D2 CCDS11019.1 r.? - - upstream 31 1 3.2 35 12 34.3 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.32688588 1.32688588 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 0.143917729 1 1.83E-19 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 3060548 C A - - - - - - 36 0 0 49 26 53.1 52 27 51.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.054158607 1.027079304 2 2.311804009 1.155902004 2 NA NA 1 NA NA 1 5 NA 1 1 7.78E-47 1 3.15E-48 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 3169745 C T - - - - - - 24 0 0 43 25 58.1 28 12 42.9 8 0 0 0 0 NA 1 0 0 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.247582205 1.123791103 2 1.91091314 0.95545657 2 NA NA 1 0 0 1 5 NA 1 1 1.66E-46 1 6.9E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 3208496 G A - - - - - - 32 0 0 47 27 57.4 49 25 51 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.220502901 1.110251451 2 2.271714922 1.135857461 2 NA NA 1 NA NA 1 5 NA 1 1 6.6E-50 1 1.68E-44 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 3298539 G A OR1E1 CCDS11024.1 r.? - - downstream 24 0 0 28 16 57.1 24 12 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.208897485 1.104448743 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 4.39E-30 1 6.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 3811006 G C P2RX1 CCDS11040.1 r.? - - intronic 29 0 0 40 20 50 35 19 54.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.934235977 0.967117988 2 2.418708241 1.20935412 2 NA NA 1 NA NA 1 5 NA 1 1 1.19E-35 1 7.18E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 3811007 G A P2RX1 CCDS11040.1 r.? - - intronic 29 0 0 42 20 47.6 34 18 52.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.84139265 0.920696325 2 2.356347439 1.178173719 2 NA NA 1 NA NA 1 5 NA 1 1 4.41E-35 1 7.79E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 4195980 C A UBE2G1 CCDS32532.1 r.? - - intronic 42 0 0 47 23 48.9 42 20 47.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.891682785 0.945841393 2 2.120267261 1.06013363 2 NA NA 1 NA NA 1 5 NA 1 1 1.71E-40 1 4.41E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 4501506 G A SMTNL2 CCDS45583.1 r.? - - intronic 22 0 0 30 17 56.7 24 16 66.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.193423598 1.096711799 2 2.971046771 1.485523385 2 NA NA 1 NA NA 1 5 NA 1 1 8.59E-32 1 1.08E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 4685281 G A VMO1 CCDS45587.1 r.? - - downstream 16 0 0 29 14 48.3 30 14 46.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.868471954 0.934235977 2 2.080178174 1.040089087 2 NA NA 1 NA NA 1 5 NA 1 1 4.41E-25 1 8.24E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 4943978 C G - - - - - - 26 0 0 35 20 57.1 33 13 39.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.208897485 1.104448743 2 1.755011136 0.877505568 2 NA NA 1 NA NA 1 5 NA 1 1 2.88E-37 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 5406699 G C ENSG00000091592 CCDS32537.1 r.? - - intronic 25 0 0 28 12 42.9 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.098716804 1 1 1 0 0 0.901283196 1 2 NA 0 NA 0.098716804 NA 1.272923977 1.272923977 1 1.233200445 1.233200445 1 NA NA 1 NA NA 0 5 NA 1 1 6.9E-21 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 5441229 T G ENSG00000091592 CCDS42246.1 r.? - - intronic 33 0 0 36 12 33.3 28 12 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.098716804 1 1 1 0 0 0.901283196 1 2 NA 0 NA 0.098716804 NA 0.988073856 0.988073856 1 1.48191314 1.48191314 1 NA NA 1 NA NA 0 5 NA 1 1 2.73E-19 1 6.9E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 5775462 A G - - - - - - 19 0 0 35 11 31.4 23 10 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.098716804 1 1 1 0 0 0.901283196 1 2 NA 0 NA 0.098716804 NA 0.93169727 0.93169727 1 1.502639198 1.502639198 1 NA NA 1 NA NA 0 5 NA 1 1 1.82E-17 1 1.05E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 5794608 G C - - - - - - 26 0 0 41 13 31.7 30 16 53.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.098716804 1 1 1 0 0 0.901283196 1 2 NA 0 NA 0.098716804 NA 0.940598836 0.940598836 1 1.841164811 1.841164811 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 2.08E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 5922703 A C - - - - - - 34 0 0 34 15 44.1 23 10 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.098716804 1 1 1 0 0 0.901283196 1 2 NA 0 NA 0.098716804 NA 1.308530242 1.308530242 1 1.502639198 1.502639198 1 NA NA 1 NA NA 0 5 NA 1 1 5.18E-26 1 1.05E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 6255311 C G - - - - - - 36 0 0 34 12 35.3 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.098716804 1 1 1 0 0 0.901283196 1 2 NA 0 NA 0.098716804 NA 1.047417631 1.047417631 1 0.929218263 0.929218263 1 NA NA 1 NA NA 0 5 NA 1 1 1.21E-19 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 6355647 A C PITPNM3 CCDS11076.1 r.6087u>g c.? p.? 3'UTR variant 31 0 0 25 7 28 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.098716804 1 1 1 0 0 0.901283196 1 2 NA 0 NA 0.098716804 NA 0.830812852 0.830812852 1 0.797953229 0.797953229 1 NA NA 1 NA NA 0 5 NA 1 1 3.47E-11 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 7081286 G C ASGR1 CCDS11089.1 r.? - - intronic 32 0 0 24 6 25 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.098716804 1 1 1 0 0 0.901283196 1 2 NA 0 NA 0.098716804 NA 0.741797189 0.741797189 1 0.811770601 0.811770601 1 NA NA 1 NA NA 0 5 NA 1 1 1.95E-09 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 7577106 G A TP53 CCDS11118.1 r.1022c>u c.832C>T p.P278S missense 30 1 3.3 28 12 42.9 27 6 22.2 229 0 0 125 36 28.8 23 12 52.2 TRUE TRUE 1.098716804 1 1 1 0 0 0.901283196 1 2 NA 0 NA 0.098716804 NA 1.272923977 1.272923977 1 0.766864143 0.766864143 1 0.854550362 0.854550362 1 1.803167038 1.803167038 1 5 4 0.139615808 1 6.9E-21 2.89E-52 4.23E-09 3.14E-22 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 7759020 G T TMEM88 CCDS11121.1 r.485g>u c.468G>T p.K156N missense 25 0 0 23 11 47.8 17 2 11.8 120 1 0.8 109 44 40.4 0 0 NA TRUE FALSE 1.098716804 1 1 1 0 0 0.901283196 1 2 NA 0 NA 0.098716804 NA 1.418316226 1.418316226 1 0.407612472 0.407612472 1 1.198744258 1.198744258 1 NA NA 0 5 NA 1 0.452013715 6.25E-20 2.72E-71 0.003234386 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 7868024 G C - - - - - - 17 0 0 21 7 33.3 22 14 63.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.098716804 1 1 1 0 0 0.901283196 1 2 NA 0 NA 0.098716804 NA 0.988073856 0.988073856 1 2.196962138 2.196962138 1 NA NA 1 NA NA 0 5 NA 1 1 8.54E-12 1 1.88E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 7973039 A G ALOX12B CCDS11129.1 r.? - - downstream 33 0 0 29 6 20.7 24 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.098716804 1 1 1 0 0 0.901283196 1 2 NA 0 NA 0.098716804 NA 0.614208073 0.614208073 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 6.72E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 8214954 T A ARHGEF15 CCDS11139.1 r.? - - intronic 17 0 0 19 7 36.8 14 2 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.098716804 1 1 1 0 0 0.901283196 1 2 NA 0 NA 0.098716804 NA 1.091925463 1.091925463 1 0.493971047 0.493971047 1 NA NA 1 NA NA 0 5 NA 1 1 3.73E-12 1 0.002185852 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 8253131 A C ODF4 CCDS11140.1 r.? - - downstream 27 0 0 29 15 51.7 16 6 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.098716804 1 1 1 0 0 0.901283196 1 2 NA 0 NA 0.098716804 NA 1.534036588 1.396207451 1.098716804 1.295378619 1.295378619 1 NA NA 1 NA NA 0 5 NA 1 1 2.22E-27 1 1.2E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 8309410 T C - - - - - - 36 0 0 33 9 27.3 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.098716804 1 1 1 0 0 0.901283196 1 2 NA 0 NA 0.098716804 NA 0.810042531 0.810042531 1 1.150296214 1.150296214 1 NA NA 1 NA NA 0 5 NA 1 1 6.76E-14 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 9153568 C T STX8 CCDS32565.1 r.? - - downstream 30 0 0 38 13 34.2 19 7 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.981017408 0.981017408 1 1.271198218 1.271198218 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 3.73E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 9862511 C G GAS7 CCDS11152.1 r.686+8g>c c.525+8G>C p.? splice region 30 0 0 26 7 26.9 20 5 25 194 0 0 163 67 41.1 11 0 0 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.771618956 0.771618956 1 0.863585746 0.863585746 1 1.178941973 1.178941973 1 0 0 1 5 5 1 1 4.73E-11 2.34E-108 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 10144513 C T - - - - - - 28 0 0 19 8 42.1 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.207626692 1.207626692 1 0.970670379 0.970670379 1 NA NA 1 NA NA 1 5 NA 1 1 2.81E-14 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 10621023 G A TMEM220 CCDS32567.1 r.? - - intronic 34 0 0 30 12 40 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 10924633 T C - - - - - - 25 0 0 30 8 26.7 44 14 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 1.098481069 1.098481069 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 11121505 G C - - - - - - 27 0 0 27 12 44.4 26 12 46.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.273601547 1.273601547 1 1.595906459 1.595906459 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-21 1 2.21E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 11759982 C G DNAH9 CCDS11160.1 r.? - - intronic 27 0 0 24 8 33.3 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-13 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 12147107 T A - - - - - - 38 0 0 28 9 32.1 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.920779497 0.920779497 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 12438355 A T - - - - - - 27 0 0 22 9 40.9 20 8 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.173205029 1.173205029 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 9.16E-16 1 4.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 13525788 T A - - - - - - 41 0 0 27 9 33.3 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.267743875 1.267743875 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 13569196 C A - - - - - - 33 0 0 33 8 24.2 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.694170213 0.694170213 1 1.115752784 1.115752784 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 13853229 C T - - - - - - 29 0 0 33 14 42.4 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.216232108 1.216232108 1 0.431792873 0.431792873 1 NA NA 1 NA NA 1 5 NA 1 1 4.57E-24 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 13863944 G A - - - - - - 36 0 0 35 10 28.6 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 14335571 T G - - - - - - 32 0 0 35 9 25.7 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.737197292 0.737197292 1 1.202111359 1.202111359 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 15539409 T C TRIM16 CCDS11171.1 r.1347a>g c.790A>G p.K264E missense 19 0 0 27 13 48.1 26 13 50 177 0 0 132 65 49.2 20 6 30 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.37973501 1.37973501 1 1.727171492 1.727171492 1 1.411288201 1.411288201 1 1.036302895 1.036302895 1 5 6 1 1 2.29E-23 7.24E-112 1.2E-23 5.7E-10 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 15548703 C G TRIM16 CCDS11171.1 r.? - - intronic 39 0 0 41 18 43.9 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.259259188 1.259259188 1 0.746138085 0.746138085 1 NA NA 1 NA NA 1 5 NA 1 1 6.91E-31 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 16409512 T A - - - - - - 42 0 0 35 13 37.1 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.064203095 1.064203095 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 16409513 A T - - - - - - 42 0 0 34 13 38.2 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.095756286 1.095756286 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 16409560 G T - - - - - - 27 0 0 32 11 34.4 27 12 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.986754352 0.986754352 1 1.533728285 1.533728285 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 3.96E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 16409567 G A - - - - - - 30 0 0 36 14 38.9 27 12 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.11583559 1.11583559 1 1.533728285 1.533728285 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 3.96E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 16426241 C A - - - - - - 25 0 0 19 5 26.3 38 14 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.754408124 0.754408124 1 1.271198218 1.271198218 1 NA NA 1 NA NA 1 5 NA 1 1 3.43E-08 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 16470006 T C ZNF287 CCDS11179.2 r.? - - intronic 28 0 0 28 10 35.7 22 3 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 0.469790646 0.469790646 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 16963429 C T MPRIP CCDS32578.1 r.? - - intronic 32 0 0 37 12 32.4 27 11 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 1.405917595 1.405917595 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 5.92E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 17032785 G A MPRIP CCDS32578.1 r.? - - intronic 32 0 0 27 7 25.9 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.742934236 0.742934236 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 6.36E-11 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 17375790 A C MED9 CCDS11184.1 r.? - - upstream 30 0 0 32 9 28.1 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.806040619 0.806040619 1 1.057028953 1.057028953 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 18216759 C G TOP3A CCDS11194.1 r.? - - intronic 28 0 0 36 15 41.7 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-25 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 19471304 T C SLC47A1 CCDS11209.1 r.? - - intronic 40 0 0 27 12 44.4 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.273601547 1.273601547 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-21 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 19937893 A G CYTSB ENST00000395530 r.? - - intronic 25 0 0 26 9 34.6 21 8 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.316104677 1.316104677 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 7.5E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 20054247 A T CYTSB CCDS42280.1 r.? - - intronic 31 0 0 34 14 41.2 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.181810445 1.181810445 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 7.74E-24 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 20178338 T G CYTSB CCDS32590.1 r.? - - intronic 46 0 0 31 11 35.5 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 0.670142539 0.670142539 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 20547165 A C - - - - - - 17 0 0 22 9 40.9 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.173205029 1.173205029 1 0.832496659 0.832496659 1 NA NA 1 NA NA 1 5 NA 1 1 9.16E-16 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 20749434 G T - - - - - - 33 0 0 33 13 39.4 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.13017795 1.13017795 1 0.932672606 0.932672606 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 20894711 C A - - - - - - 35 0 0 29 8 27.6 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 21358820 C G - - - - - - 26 0 0 32 11 34.4 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.986754352 0.986754352 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 21533497 T A ENSG00000205203 ENST00000324949 r.? - - upstream 52 0 0 60 11 18.3 43 8 18.6 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.524930368 0.524930368 1 0.642507795 0.642507795 1 NA NA 1 0 0 1 4 NA 1 1 1.34E-14 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 21689034 T A - - - - - - 34 0 0 33 10 30.3 27 13 48.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 1.661538976 1.661538976 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 2.29E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 21695702 T A - - - - - - 28 0 0 36 15 41.7 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-25 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 21932514 C T - - - - - - 35 0 0 25 8 32 24 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.92E-13 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 26076882 G A - - - - - - 31 0 0 32 11 34.4 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.986754352 0.986754352 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 26132655 T A - - - - - - 28 0 0 26 10 38.5 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 0.59069265 0.59069265 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 27615410 C G NUFIP2 CCDS32600.1 r.? - - intronic 45 0 0 28 8 28.6 18 7 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.343739421 1.343739421 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 2.37E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 27883180 A T ABHD15 CCDS32602.1 r.? - - downstream 28 0 0 34 13 38.2 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.095756286 1.095756286 1 1.336830735 1.336830735 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 29274898 G A ADAP2 CCDS11261.1 r.? - - intronic 30 0 0 36 9 25 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 29384979 C T - - - - - - 28 0 0 22 7 31.8 18 3 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 0.576875278 0.576875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 30639800 G C RHBDL3 CCDS32613.1 r.? - - intronic 32 0 0 29 9 31 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 30890185 T A MYO1D CCDS32615.1 r.? - - intronic 31 0 0 32 9 28.1 32 14 43.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.806040619 0.806040619 1 1.513002227 1.513002227 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 2.65E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 31670077 G A ACCN1 CCDS42296.1 r.? - - intronic 33 0 0 24 6 25 19 9 47.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.637358575 1.637358575 1 NA NA 1 NA NA 1 5 NA 1 1 1.95E-09 1 1.72E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 32358649 T G ACCN1 CCDS42296.1 r.? - - intronic 36 0 0 32 6 18.8 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.539272727 0.539272727 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 32407579 C A ACCN1 CCDS42296.1 r.? - - intronic 32 0 0 36 14 38.9 23 10 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.11583559 1.11583559 1 1.502639198 1.502639198 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 1.05E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 32498190 G A - - - - - - 37 0 0 33 15 45.5 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 1.091572383 1.091572383 1 NA NA 1 NA NA 1 5 NA 1 1 2.91E-26 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 33382632 G A RFFL CCDS11286.1 r.? - - intronic 29 0 0 26 9 34.6 33 13 39.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.361011136 1.361011136 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 33507171 T G UNC45B CCDS11292.1 r.? - - intronic 28 0 0 15 5 33.3 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000009 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 33781289 G A - - - - - - 32 0 0 33 10 30.3 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 33841572 G C SLFN12L CCDS45649.1 r.? - - intronic 35 0 0 38 10 26.3 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.754408124 0.754408124 1 1.181385301 1.181385301 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 35126175 G T - - - - - - 28 0 0 22 9 40.9 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.173205029 1.173205029 1 1.008668151 1.008668151 1 NA NA 1 NA NA 1 5 NA 1 1 9.16E-16 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 36119079 G A - - - - - - 33 0 0 29 13 44.8 30 13 43.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.285075435 1.285075435 1 1.495730512 1.495730512 1 NA NA 1 NA NA 1 5 NA 1 1 7.69E-23 1 1.35E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 36129176 G A - - - - - - 30 0 0 40 15 37.5 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.670142539 0.670142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-24 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 36182105 T A - - - - - - 38 0 0 38 17 44.7 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.282206963 1.282206963 1 1.046665924 1.046665924 1 NA NA 1 NA NA 1 5 NA 1 1 1.99E-29 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 36305985 G A - - - - - - 83 0 0 69 12 17.4 57 8 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.49911412 0.49911412 1 0.483608018 0.483608018 1 NA NA 1 NA NA 1 4 NA 1 1 1.65E-15 1 5.19E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 37346767 G A CACNB1 CCDS42311.1 r.? - - intronic 33 0 0 29 9 31 18 5 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 38378525 C G WIPF2 CCDS11364.1 r.? - - intronic 28 0 0 33 16 48.5 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.391208897 1.391208897 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-28 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 38473737 G C RARA CCDS11366.1 r.? - - upstream 19 0 0 27 10 37 20 7 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 1.209020045 1.209020045 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 5.72E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 38591241 C G - - - - - - 26 0 0 36 14 38.9 20 9 45 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.11583559 1.11583559 1 1.554454343 1.554454343 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 3.12E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 40039159 A C ACLY CCDS11412.1 r.? - - intronic 36 0 0 24 9 37.5 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 41067151 G A G6PC CCDS11446.1 r.? - - downstream 30 0 0 24 9 37.5 17 11 64.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 2.234959911 2.234959911 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 5.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 41073712 A G - - - - - - 20 0 0 25 9 36 31 13 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 1.44736971 1.44736971 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 2.32E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 41614595 G C ETV4 CCDS11465.1 r.? - - intronic 39 0 0 24 13 54.2 29 13 44.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.554711799 1.554711799 1 1.547545657 1.547545657 1 NA NA 1 NA NA 1 5 NA 1 1 2.9E-24 1 7.69E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 41866489 G A C17orf105 CCDS45695.1 r.? - - downstream 37 0 0 24 7 29.2 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 1.008668151 1.008668151 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 42441208 T G FAM171A2 CCDS45701.1 r.36a>c c.? p.? 5'UTR variant 21 0 0 16 5 31.2 0 0 NA 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 0.000000013 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 42616748 C G - - - - - - 24 0 0 28 6 21.4 20 5 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.613852998 0.613852998 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 43495379 G A ARHGAP27 CCDS11498.1 r.? - - intronic 34 0 0 22 7 31.8 20 3 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 0.518151448 0.518151448 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 43921146 C A ENSG00000185294 CCDS32673.1 r.? - - upstream 27 0 0 28 11 39.3 23 11 47.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.127309478 1.127309478 1 1.651175947 1.651175947 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 6.25E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 44265514 C A KIAA1267 CCDS11503.1 r.? - - intronic 70 0 0 66 14 21.2 53 4 7.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.608116054 0.608116054 1 0.259075724 0.259075724 1 NA NA 1 NA NA 1 4 NA 1 1 3.71E-19 1 0.000150502 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 44954483 G C WNT9B CCDS11506.1 r.? - - downstream 32 0 0 27 10 37 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 0.511242762 0.511242762 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 45663547 T A NPEPPS CCDS45721.1 r.1106u>a c.883T>A p.Y295N missense 26 0 0 15 5 33.3 20 2 10 21 0 0 3 0 0 13 9 69.2 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.345434298 0.345434298 1 0 0 1 2.390405345 2.390405345 1 5 4 1 1 0.000000009 1 0.004473894 1.37E-18 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 45692181 T C NPEPPS CCDS45721.1 r.? - - intronic 30 0 0 35 16 45.7 36 16 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.310891683 1.310891683 1 1.533728285 1.533728285 1 NA NA 1 NA NA 1 5 NA 1 1 5.66E-28 1 1.01E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 45942757 G A - - - - - - 22 0 0 26 11 42.3 23 3 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 0.449064588 0.449064588 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 46375688 G T SKAP1 CCDS32674.1 r.? - - intronic 33 0 0 22 7 31.8 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 0.576875278 0.576875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 46508219 C A SKAP1 CCDS32674.1 r.? - - upstream 29 0 0 33 12 36.4 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 46646469 G T HOXB3 CCDS11528.1 r.? - - intronic 30 0 0 29 8 27.6 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 0.552694878 0.552694878 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 46696112 T C HOXB9 CCDS11534.1 r.? - - downstream 26 0 0 39 18 46.2 30 11 36.7 0 0 NA 1 1 100 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.325234043 1.325234043 1 1.267743875 1.267743875 1 2.868471954 2.868471954 1 NA NA 1 5 NA 1 1 2.15E-31 0.005 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 46963300 C T - - - - - - 25 0 0 30 15 50 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 4.41E-27 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 47057371 G C - - - - - - 27 0 0 35 7 20 23 5 21.7 1 0 0 1 0 0 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0.749592428 0.749592428 1 0 0 1 NA NA 1 5 NA 1 1 4.65E-10 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 47190978 C A - - - - - - 36 0 0 39 17 43.6 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.250653772 1.250653772 1 0.970670379 0.970670379 1 NA NA 1 NA NA 1 5 NA 1 1 3.51E-29 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 47226782 C T B4GALNT2 CCDS11544.1 r.? - - intronic 36 0 0 20 11 55 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.577659574 1.577659574 1 1.115752784 1.115752784 1 NA NA 1 NA NA 1 5 NA 1 1 7.87E-21 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 47609927 G T - - - - - - 19 0 0 38 10 26.3 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 48091793 G T - - - - - - 30 0 0 38 18 47.4 31 15 48.4 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.833655706 0.916827853 2 2.155902004 1.077951002 2 NA NA 1 NA NA 1 5 NA 1 1 1.16E-31 1 8.51E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 48489093 C G - - - - - - 37 0 0 44 22 50 44 20 45.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.934235977 0.967117988 2 2.026726058 1.013363029 2 NA NA 1 NA NA 1 5 NA 1 1 4.51E-39 1 1.5E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 48781308 G T ANKRD40 CCDS11572.1 r.? - - intronic 29 0 0 37 7 18.9 26 3 11.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 0.512249443 0.512249443 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 49538385 A G - - - - - - 38 0 0 30 10 33.3 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 49552592 G T - - - - - - 40 0 0 37 8 21.6 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.792873051 0.792873051 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 49884627 C A CA10 CCDS32684.1 r.? - - intronic 30 0 0 38 13 34.2 50 14 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 4.84E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 50016372 C T CA10 CCDS32684.1 r.? - - intronic 41 0 0 35 6 17.1 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.532293987 1.532293987 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 50066911 C A CA10 CCDS32684.1 r.? - - intronic 37 0 0 39 7 17.9 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 50148855 G T CA10 CCDS32684.1 r.? - - intronic 29 0 0 38 14 36.8 31 3 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.423597679 1.423597679 1 0.432071269 0.432071269 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 50399998 C G - - - - - - 27 0 0 38 16 42.1 37 14 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.628626692 0.814313346 2 1.683741648 0.841870824 2 NA NA 1 NA NA 1 5 NA 1 1 3.06E-27 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 50587420 G T - - - - - - 27 0 0 32 15 46.9 31 15 48.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.814313346 0.907156673 2 2.155902004 1.077951002 2 NA NA 1 NA NA 1 5 NA 1 1 1.59E-26 1 8.51E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 50784737 T A - - - - - - 29 0 0 39 19 48.7 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.883945841 0.941972921 2 1.750556793 0.875278396 2 NA NA 1 NA NA 1 5 NA 1 1 1.2E-33 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 51277661 C G - - - - - - 37 0 0 36 6 16.7 46 13 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.260579065 1.260579065 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 51437757 C T - - - - - - 30 0 0 30 5 16.7 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 51501599 A C - - - - - - 26 0 0 30 5 16.7 32 13 40.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.808463252 0.904231626 2 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 51507163 G A - - - - - - 35 0 0 36 6 16.7 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 51549244 A G - - - - - - 40 0 0 42 20 47.6 36 13 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.84139265 0.920696325 2 1.608017817 0.804008909 2 NA NA 1 NA NA 1 5 NA 1 1 4.41E-35 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 51791278 T G - - - - - - 36 0 0 47 10 21.3 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.823984526 0.823984526 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 51834777 C T - - - - - - 34 1 2.9 41 23 56.1 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.170212766 1.085106383 2 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 0.156694864 1 2.21E-42 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 51867648 C A - - - - - - 41 0 0 48 30 62.5 39 23 59 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.417794971 1.208897485 2 2.628062361 1.31403118 2 NA NA 1 NA NA 1 5 NA 1 1 6.24E-57 1 4.16E-43 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 52052448 C T - - - - - - 49 0 0 49 13 26.5 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.71E-19 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 52129291 G C - - - - - - 42 0 0 33 9 27.3 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 52295059 C T - - - - - - 30 0 0 42 11 26.2 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.013539652 1.013539652 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 52308491 A T - - - - - - 45 0 0 32 4 12.5 43 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000201 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 52353572 A T - - - - - - 37 0 0 47 7 14.9 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.576402321 0.576402321 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 4.12E-09 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 52814113 T C - - - - - - 30 0 0 31 8 25.8 53 12 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 5.39E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 53089850 T G STXBP4 CCDS11584.2 r.? - - intronic 28 0 0 47 11 23.4 39 14 35.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.905222437 0.905222437 1 1.599109131 0.799554566 2 NA NA 1 NA NA 1 5 NA 1 1 7.21E-16 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 53276382 A G - - - - - - 34 0 0 50 9 18 52 12 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.696324952 0.696324952 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 4.07E-12 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 53494535 C G MMD CCDS11586.1 r.? - - intronic 31 0 0 36 16 44.4 27 17 63 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.717601547 0.858800774 2 2.80623608 1.40311804 2 NA NA 1 NA NA 1 5 NA 1 1 1.01E-27 1 6.14E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 53733379 T C - - - - - - 43 0 0 51 8 15.7 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.764350097 0.764350097 1 1.118140312 1.118140312 1 NA NA 1 NA NA 1 5 NA 1 1 2.05E-10 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 53756702 C A - - - - - - 35 0 0 56 13 23.2 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.129485493 1.129485493 1 0.889057906 0.889057906 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-18 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 53846223 G T PCTP CCDS45741.1 r.? - - intronic 33 0 0 49 10 20.4 57 12 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.993168279 0.993168279 1 1.15086637 1.15086637 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-14 1 1.4E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 53936209 G C - - - - - - 33 0 0 62 14 22.6 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.100274662 1.100274662 1 0.829060134 0.829060134 1 NA NA 1 NA NA 1 5 NA 1 1 1.42E-19 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 54086084 G T - - - - - - 29 0 0 51 8 15.7 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.764350097 0.764350097 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.05E-10 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 54195555 C G - - - - - - 25 0 0 64 10 15.6 58 8 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.759481625 0.759481625 1 0.752699332 0.752699332 1 NA NA 1 NA NA 1 5 NA 1 1 1.16E-12 1 5.99E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 54289589 G A ANKFN1 CCDS32686.1 r.? - - intronic 37 0 0 59 25 42.4 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 2.064232108 1.032116054 2 1.390857461 1.390857461 1 NA NA 1 NA NA 1 5 NA 1 1 7.66E-42 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 54498689 T G ANKFN1 CCDS32686.1 r.? - - intronic 31 0 0 35 8 22.9 39 4 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.114880077 1.114880077 1 0.561797327 0.561797327 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 54655977 G A - - - - - - 34 0 0 45 7 15.6 43 10 23.3 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.759481625 0.759481625 1 1.270861915 1.270861915 1 NA NA 1 0 0 1 5 NA 1 1 0.000000003 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 54685686 C G - - - - - - 31 0 0 43 9 20.9 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.017510638 1.017510638 1 1.77266147 0.886330735 2 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 54741501 G A - - - - - - 29 0 0 44 8 18.2 54 7 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.886061896 0.886061896 1 0.709064588 0.709064588 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 1.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 54751919 G A - - - - - - 36 0 0 48 16 33.3 62 28 45.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.621201161 0.81060058 2 2.465363029 0.821787676 3 NA NA 1 NA NA 1 5 NA 1 1 2.96E-25 1 1.1E-47 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 54937531 G A DGKE CCDS11590.1 r.? - - intronic 36 0 0 51 31 60.8 35 23 65.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 2.960030948 0.986676983 3 3.583503341 1.194501114 3 NA NA 1 NA NA 1 5 NA 1 1 3.28E-58 1 9.39E-45 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 55085303 C T SCPEP1 CCDS11593.1 r.? - - downstream 19 0 0 45 8 17.8 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.866588008 0.866588008 1 1.396311804 1.396311804 1 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 55127131 C A RNF126P1 ENST00000333436 r.? - - downstream 29 0 0 37 8 21.6 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.051589942 1.051589942 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 55581925 A T MSI2 CCDS11597.1 r.? - - intronic 26 0 0 56 20 35.7 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.738044487 0.869022244 2 1.178138085 1.178138085 1 NA NA 1 NA NA 1 5 NA 1 1 6.31E-32 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 55639011 C T MSI2 CCDS11597.1 r.? - - intronic 25 0 0 51 10 19.6 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 1.51630735 1.51630735 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-13 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 55763536 G A - - - - - - 36 0 0 45 9 20 56 6 10.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 0.583614699 0.583614699 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-12 1 0.000000409 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 55780008 T A - - - - - - 23 0 0 65 8 12.3 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.59882205 0.59882205 1 0.992690423 0.992690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-09 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 55945578 C T CUEDC1 CCDS11599.1 r.1686g>a c.967G>A p.A323T missense 36 0 0 57 35 61.4 25 13 52 241 0 0 194 101 52.1 187 185 98.9 TRUE TRUE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 2.989241779 0.996413926 3 2.836258352 0.945419451 3 2.536473888 0.845491296 3 5.394345212 1.798115071 3 5 4 1 1 9.12E-66 3.03E-176 6E-24 0 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 17 56213245 C G - - - - - - 40 0 0 61 15 24.6 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.197644101 1.197644101 1 1.161775056 1.161775056 1 NA NA 1 NA NA 1 5 NA 1 1 1.73E-21 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 57108388 T G TRIM37 CCDS32694.1 r.? - - intronic 34 0 0 51 10 19.6 48 12 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 1.363585746 1.363585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-13 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 58273483 C G USP32 CCDS32697.1 r.? - - intronic 24 0 0 37 8 21.6 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.051589942 1.051589942 1 1.063596882 1.063596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 58501955 T A C17orf64 CCDS32698.2 r.? - - intronic 32 0 0 58 11 19 53 6 11.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.925009671 0.925009671 1 0.616340757 0.616340757 1 NA NA 1 NA NA 1 5 NA 1 1 8.96E-15 1 0.000000293 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 58608209 C A APPBP2 CCDS32699.1 r.? - - upstream 31 0 0 56 22 39.3 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.913309478 0.956654739 2 1.069051225 1.069051225 1 NA NA 1 NA NA 1 5 NA 1 1 4.34E-36 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 58754516 T G BCAS3 CCDS45749.1 r.? - - upstream 42 0 0 43 9 20.9 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.017510638 1.017510638 1 0.861786192 0.861786192 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 58840288 T G BCAS3 CCDS45749.1 r.? - - intronic 36 0 0 49 12 24.5 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.192775629 1.192775629 1 1.292679287 1.292679287 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 60483913 A G ENSG00000172421 CCDS45751.1 r.788a>g c.717A>G p.K239K silent 35 0 0 52 16 30.8 51 8 15.7 250 1 0.4 164 29 17.7 131 68 51.9 TRUE TRUE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.499489362 0.749744681 2 0.856331849 0.856331849 1 0.861719536 0.861719536 1 2.830804009 0.943601336 3 5 6 1 0.714392119 1.33E-24 1.34E-35 2.05E-10 4.28E-119 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 17 61057778 G A - - - - - - 46 0 0 52 10 19.2 63 9 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.934746615 0.934746615 1 0.779971047 0.779971047 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-13 1 3.62E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 61307701 G T TANC2 CCDS45754.1 r.? - - intronic 28 0 0 47 27 57.4 26 13 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 2.794502901 0.931500967 3 2.727171492 0.909057164 3 NA NA 1 NA NA 1 5 NA 1 1 6.6E-50 1 1.2E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 61362966 G C TANC2 CCDS45754.1 r.? - - intronic 35 0 0 50 7 14 42 5 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.681586074 0.681586074 1 0.649066815 0.649066815 1 NA NA 1 NA NA 1 5 NA 1 1 6.46E-09 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 61980766 C T - - - - - - 33 0 0 49 6 12.2 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.593953578 0.593953578 1 1.118140312 1.118140312 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000182 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 62677257 G C - - - - - - 33 0 0 43 6 14 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.681586074 0.681586074 1 0.850877506 0.850877506 1 NA NA 1 NA NA 1 5 NA 1 1 8.13E-08 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 63080628 C A - - - - - - 27 0 0 54 17 31.5 49 3 6.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.533568665 0.766784333 2 0.332714922 0.332714922 1 NA NA 1 NA NA 1 5 NA 1 1 3.02E-26 1 0.001939399 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 63808661 C G CCDC46 CCDS32710.1 r.? - - intronic 36 0 0 39 8 20.5 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 64460775 C G PRKCA CCDS11664.1 r.? - - intronic 26 0 0 43 19 44.2 30 15 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.709864603 0.854932302 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 1.36E-32 1 4.41E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 64788582 A T PRKCA CCDS11664.1 r.? - - intronic 28 0 0 46 13 28.3 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.094777563 1.094777563 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.07E-19 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 64936115 G A - - - - - - 40 0 0 45 13 28.9 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 7.68E-20 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 65217333 A G HELZ CCDS42374.1 r.? - - intronic 41 0 0 39 13 33.3 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 65223951 A T HELZ CCDS42374.1 r.? - - intronic 36 0 0 41 14 34.1 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-22 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 65763714 T A - - - - - - 21 0 0 39 12 30.8 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 65763715 T A - - - - - - 20 0 0 40 13 32.5 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 66317165 G A ARSG CCDS11676.1 r.? - - intronic 25 0 0 50 12 24 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.928433269 0.928433269 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.49E-17 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 66486563 C A - - - - - - 26 0 0 39 19 48.7 20 15 75 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.883945841 0.941972921 2 3.340757238 1.670378619 2 NA NA 1 NA NA 1 5 NA 1 1 1.2E-33 1 4.62E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 66660398 T G - - - - - - 34 1 2.9 46 22 47.8 33 19 57.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.849129594 0.924564797 2 2.565701559 1.28285078 2 NA NA 1 NA NA 1 5 NA 0.156694864 1 1.68E-38 1 1.46E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 66892347 C G ABCA8 CCDS11680.1 r.? - - intronic 31 0 0 33 12 36.4 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.408123791 1.408123791 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 67161567 T C ABCA10 CCDS11684.1 r.? - - intronic 46 0 0 41 7 17.1 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 67363091 C T - - - - - - 33 0 0 49 14 28.6 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.398663697 1.398663697 1 NA NA 1 NA NA 1 5 NA 1 1 3.5E-21 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 68265127 C A - - - - - - 32 0 0 41 10 24.4 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 68649615 G A - - - - - - 40 0 0 42 14 33.3 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-22 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 69002886 C A - - - - - - 33 0 0 51 8 15.7 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.607350097 0.607350097 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 2.05E-10 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 69091903 C G - - - - - - 48 0 0 43 22 51.2 50 16 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.98065764 0.99032882 2 1.425389755 1.425389755 1 NA NA 1 NA NA 1 5 NA 1 1 2.27E-39 1 6.4E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 69205222 T A - - - - - - 33 0 0 30 7 23.3 29 3 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.458797327 0.458797327 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 69317353 G A - - - - - - 37 0 0 42 9 21.4 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 69669915 T A - - - - - - 32 0 0 33 18 54.5 41 25 61 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.108317215 1.054158607 2 2.71714922 1.35857461 2 NA NA 1 NA NA 1 5 NA 1 1 3.68E-33 1 2.84E-47 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 69669916 C G - - - - - - 31 0 0 32 18 56.2 41 25 61 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.174081238 1.087040619 2 2.71714922 1.35857461 2 NA NA 1 NA NA 1 5 NA 1 1 1.68E-33 1 2.84E-47 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 69868977 G A - - - - - - 32 0 0 47 14 29.8 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.152804642 1.152804642 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 70169383 G A - - - - - - 22 0 0 36 9 25 43 2 4.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.20935412 0.20935412 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 0.019709573 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 70237372 C A - - - - - - 37 0 0 44 15 34.1 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 6.12E-24 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 70866893 G T SLC39A11 CCDS11690.1 r.? - - intronic 32 0 0 41 11 26.8 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 70954110 C A SLC39A11 CCDS11690.1 r.? - - intronic 28 0 0 36 21 58.3 45 19 42.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.255319149 1.127659574 2 1.879732739 0.93986637 2 NA NA 1 NA NA 1 5 NA 1 1 2.47E-39 1 4.11E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 71478428 A T SDK2 CCDS45769.1 r.? - - intronic 29 0 0 41 22 53.7 28 16 57.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.077369439 1.03868472 2 2.543429844 1.271714922 2 NA NA 1 NA NA 1 5 NA 1 1 5.33E-40 1 4.39E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 71785418 T C C17orf54 ENST00000444747 r.? - - intronic 32 0 0 33 10 30.3 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 71862055 C A - - - - - - 37 0 0 41 12 29.3 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 71897120 C G - - - - - - 39 0 0 46 11 23.9 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.924564797 0.924564797 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.55E-16 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 72379884 A G - - - - - - 35 0 0 41 12 29.3 45 14 31.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 1.385300668 1.385300668 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 72594437 C G C17orf77 CCDS32721.1 r.? - - downstream 25 0 0 25 5 20 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000153 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 72780239 T G TMEM104 CCDS32723.1 r.? - - intronic 30 0 0 39 8 20.5 42 12 28.6 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.273942094 1.273942094 1 0 0 1 NA NA 1 5 NA 1 1 2.09E-11 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 73109501 G C ARMC7 CCDS11714.1 r.? - - intronic 32 0 0 38 16 42.1 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.628626692 0.814313346 2 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 3.06E-27 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 73233166 C T GGA3 CCDS11717.1 r.3375g>a c.? p.? 3'UTR variant 33 0 0 46 15 32.6 48 6 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-23 1 0.00000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 73513192 G A CASKIN2 CCDS11723.1 r.? - - upstream 25 0 0 26 13 50 15 6 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.934235977 0.967117988 2 1.781737194 1.781737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-23 1 7.52E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 73773405 C G H3F3B CCDS11729.1 r.1815g>c c.? p.? 3'UTR variant 28 0 0 38 9 23.7 34 4 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 0.525612472 0.525612472 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 74123849 C G - - - - - - 24 0 0 30 8 26.7 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 1.425389755 1.425389755 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 74280903 A C QRICH2 CCDS32741.1 r.? - - intronic 34 0 0 61 15 24.6 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.951644101 0.951644101 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.73E-21 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 74280939 C A QRICH2 CCDS32741.1 r.? - - intronic 33 1 3 57 32 56.1 32 18 56.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.170212766 1.085106383 2 2.503340757 1.251670379 2 NA NA 1 NA NA 1 5 NA 0.15245715 1 2.05E-58 1 1.68E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 74645276 A G - - - - - - 35 0 0 41 20 48.8 28 12 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.887814313 0.943907157 2 1.91091314 0.95545657 2 NA NA 1 NA NA 1 5 NA 1 1 2.32E-35 1 6.9E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 74917667 C G MGAT5B CCDS11751.1 r.? - - intronic 34 0 0 54 12 22.2 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-17 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 75574217 C T - - - - - - 27 0 0 26 11 42.3 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.636363636 0.818181818 2 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 75708872 T A - - - - - - 40 0 0 34 7 20.6 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 75832953 A G - - - - - - 31 0 0 44 12 27.3 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 75945299 G T - - - - - - 31 0 0 37 10 27 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.855233853 0.855233853 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 75997852 C T ENSG00000078687 CCDS45799.1 r.? - - upstream 43 0 0 44 9 20.5 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 76041632 C T ENSG00000078687 CCDS45799.1 r.? - - intronic 30 0 0 34 7 20.6 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 1.523385301 1.523385301 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 76233653 G C ENSG00000204278 CCDS45802.1 r.? - - intronic 31 0 0 40 19 47.5 26 12 46.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.837524178 0.918762089 2 2.057906459 1.028953229 2 NA NA 1 NA NA 1 5 NA 1 1 2.27E-33 1 2.21E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 76619288 G T - - - - - - 22 0 0 35 7 20 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 76776100 G A CYTH1 CCDS42392.2 r.? - - intronic 29 0 0 30 8 26.7 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 76815085 C T USP36 CCDS32755.1 r.? - - intronic 33 0 0 38 11 28.9 51 8 15.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.699331849 0.699331849 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 2.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 77180803 A C ENSG00000167281 CCDS45805.1 r.? - - intronic 29 0 0 45 25 55.6 35 23 65.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.150870406 1.075435203 2 2.926503341 1.46325167 2 NA NA 1 NA NA 1 5 NA 1 1 8.58E-46 1 9.39E-45 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 77190376 C G ENSG00000167281 CCDS45805.1 r.? - - intronic 28 0 0 40 6 15 37 1 2.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.580270793 0.580270793 1 0.120267261 0.120267261 1 NA NA 1 NA NA 1 3 NA 1 1 5.18E-08 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 77270790 C A ENSG00000167281 CCDS45805.1 r.? - - intronic 18 0 0 46 8 17.4 22 7 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.67311412 0.67311412 1 1.416481069 1.416481069 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-11 1 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 77285964 T A ENSG00000167281 CCDS45805.1 r.? - - intronic 33 0 0 39 25 64.1 39 18 46.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.479690522 1.239845261 2 2.057906459 1.028953229 2 NA NA 1 NA NA 1 5 NA 1 1 4.2E-48 1 2.15E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 77845282 G A - - - - - - 40 0 0 28 11 39.3 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.520309478 1.520309478 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 78056637 A C CCDC40 CCDS42395.1 r.? - - intronic 36 0 0 27 10 37 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.431334623 1.431334623 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 78548466 G A RPTOR CCDS11773.1 r.? - - intronic 26 0 0 47 24 51.1 33 16 48.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.976789168 0.988394584 2 2.160356347 1.080178174 2 NA NA 1 NA NA 1 5 NA 1 1 8.6E-43 1 1.64E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 79231494 G A SLC38A10 CCDS42397.1 r.? - - intronic 25 0 0 49 10 20.4 20 2 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.789168279 0.789168279 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-14 1 0.004473894 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 79422278 A T BAHCC1 ENST00000307745 r.? - - intronic 25 0 0 29 10 34.5 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.334622824 1.334622824 1 1.318485523 1.318485523 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 80260088 T A - - - - - - 32 0 0 41 11 26.8 24 8 33.3 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 1.34E-16 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 80262389 C G - - - - - - 23 1 4.3 10 5 50 8 3 37.5 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 0.108890944 1 7.71E-10 1 0.00000687 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 82882 G A - - - - - - 30 0 0 43 11 25.6 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.24632882 1.24632882 1 1.603576837 1.603576837 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 292340 G T - - - - - - 28 0 0 59 13 22 44 14 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.07106383 1.07106383 1 1.734481069 0.867240535 2 NA NA 1 NA NA 1 5 NA 1 1 3.99E-18 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 481940 G A COLEC12 CCDS32782.1 r.? - - intronic 27 0 0 47 17 36.2 38 19 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.762386847 0.881193424 2 2.727171492 1.363585746 2 NA NA 1 NA NA 1 5 NA 1 1 1.81E-27 1 6.16E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 1082201 T G - - - - - - 24 0 0 40 11 27.5 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.338829787 1.338829787 1 1.069051225 1.069051225 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 1234708 T C - - - - - - 36 0 0 37 10 27 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.314487427 1.314487427 1 1.183592428 1.183592428 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 1556360 A T - - - - - - 36 0 0 54 10 18.5 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.900667311 0.900667311 1 1.249044543 1.249044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.91E-13 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 1969055 A C - - - - - - 33 0 0 44 4 9.1 48 6 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.443030948 0.443030948 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000723 1 0.00000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 2036979 C T - - - - - - 34 0 0 40 18 45 56 23 41.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.190812379 1.09540619 2 2.241734967 1.120867483 2 NA NA 1 NA NA 1 5 NA 1 1 3.9E-31 1 3.22E-38 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 2057735 A G - - - - - - 30 0 0 48 24 50 46 23 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.434235977 1.217117988 2 2.727171492 1.363585746 2 NA NA 1 NA NA 1 5 NA 1 1 1.71E-42 1 8.79E-41 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 2105892 C T - - - - - - 35 0 0 39 17 43.6 42 12 28.6 0 0 NA 1 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.122653772 1.061326886 2 1.559942094 1.559942094 1 0 0 1 NA NA 1 5 NA 1 1 3.51E-29 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 2222362 G C - - - - - - 24 0 0 55 6 10.9 31 1 3.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.530663443 0.530663443 1 0.174538976 0.174538976 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000367 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 2854497 C G EMILIN2 CCDS11828.1 r.? - - intronic 32 0 0 53 9 17 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.827640232 0.827640232 1 0.725427617 0.725427617 1 NA NA 1 NA NA 1 5 NA 1 1 7.1E-12 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 3422885 C T TGIF1 CCDS11835.1 r.? - - intronic 22 0 0 52 25 48.1 43 16 37.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.34173501 1.170867505 2 2.02901559 1.014507795 2 NA NA 1 NA NA 1 5 NA 1 1 1.25E-43 1 3.56E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 3469881 C G - - - - - - 32 0 0 51 10 19.6 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 1.249044543 1.249044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-13 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 3557897 C T DLGAP1 CCDS11836.1 r.? - - intronic 24 0 0 40 19 47.5 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.312524178 1.156262089 2 1.521761693 1.521761693 1 NA NA 1 NA NA 1 5 NA 1 1 2.27E-33 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 3616525 G T DLGAP1 CCDS11836.1 r.? - - intronic 23 0 0 41 12 29.3 50 10 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.426462282 1.426462282 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 3802215 C G DLGAP1 CCDS11836.1 r.? - - intronic 29 0 0 50 23 46 40 14 35 0 0 NA 0 0 NA 2 1 50 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.239497099 1.119748549 2 1.909020045 0.954510022 2 NA NA 1 2.727171492 2.727171492 1 5 NA 1 1 1.13E-39 1 1.25E-22 0.009975 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 3812360 T A DLGAP1 CCDS11836.1 r.? - - intronic 30 0 0 45 17 37.8 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.840282398 0.920141199 2 1.396311804 1.396311804 1 NA NA 1 NA NA 1 5 NA 1 1 7.37E-28 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 3958614 C G - - - - - - 28 1 3.6 30 12 40 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.947388781 0.973694391 2 1.88174833 0.940874165 2 NA NA 1 NA NA 1 5 NA 0.130947004 1 1.94E-20 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 4027145 A G - - - - - - 32 0 0 47 8 17 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.827640232 0.827640232 1 1.04177951 1.04177951 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-10 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 4407715 C T - - - - - - 38 0 0 42 8 19 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.925009671 0.925009671 1 0.850877506 0.850877506 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 4649120 A C - - - - - - 38 0 0 70 10 14.3 44 16 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 1.985380846 0.992690423 2 NA NA 1 NA NA 1 5 NA 1 1 2.95E-12 1 5.57E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 4844750 A G - - - - - - 26 0 0 36 5 13.9 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.676717602 0.676717602 1 0.796334076 0.796334076 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000104 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 4857873 G A - - - - - - 36 0 0 45 14 31.1 43 14 32.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.514094778 1.514094778 1 1.778115813 0.889057906 2 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 4.18E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 5057935 T C - - - - - - 25 0 0 47 24 51.1 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.487789168 1.243894584 2 1.898111359 0.949055679 2 NA NA 1 NA NA 1 5 NA 1 1 8.6E-43 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 5291985 C T ZFP161 CCDS11837.1 r.561g>a c.222G>A p.S74S silent 34 0 0 46 8 17.4 29 6 20.7 149 0 0 100 20 20 10 1 10 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.84711412 0.84711412 1 1.129048998 1.129048998 1 0.973694391 0.973694391 1 0.545434298 0.545434298 1 5 5 1 1 8.61E-11 3.49E-26 6.72E-09 0.04888987 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 5421682 C A EPB41L3 CCDS11838.1 r.? - - intronic 38 0 0 47 12 25.5 44 14 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.241460348 1.241460348 1 1.734481069 0.867240535 2 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 5538229 T A EPB41L3 CCDS11838.1 r.? - - intronic 27 0 0 49 12 24.5 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.192775629 1.192775629 1 0.861786192 0.861786192 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 5753789 A T - - - - - - 28 0 0 36 17 47.2 49 21 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.297918762 1.148959381 2 2.33991314 1.16995657 2 NA NA 1 NA NA 1 5 NA 1 1 6E-30 1 1.63E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 6282718 G C L3MBTL4 CCDS11839.2 r.? - - intronic 32 0 0 45 5 11.1 46 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.540400387 0.540400387 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000323 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 6420898 G T - - - - - - 28 0 0 59 24 40.7 47 19 40.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.981468085 0.990734043 2 2.203554566 1.101777283 2 NA NA 1 NA NA 1 5 NA 1 1 1.09E-39 1 1.16E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 6500085 T G - - - - - - 29 0 0 52 20 38.5 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.874361702 0.937180851 2 0.970873051 0.970873051 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-32 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 6770696 G A ARHGAP28 ENST00000400091 r.? - - intronic 27 0 0 43 12 27.9 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.358303675 1.358303675 1 0.959964365 0.959964365 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 6770697 A C ARHGAP28 ENST00000400091 r.? - - intronic 24 0 0 42 12 28.6 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.392382979 1.392382979 1 0.992690423 0.992690423 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 6940025 C G LAMA1 CCDS32787.1 r.? - - downstream 42 0 0 46 16 34.8 43 18 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.69422824 0.84711412 2 2.28536971 1.142684855 2 NA NA 1 NA NA 1 5 NA 1 1 1.31E-25 1 2.06E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 7018110 G A LAMA1 CCDS32787.1 r.? - - intronic 22 0 0 47 11 23.4 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.139222437 1.139222437 1 1.014507795 1.014507795 1 NA NA 1 NA NA 1 5 NA 1 1 7.21E-16 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 7178871 G T - - - - - - 38 0 0 58 28 48.3 9 4 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.351471954 1.175735977 2 2.421728285 2.421728285 1 NA NA 1 NA NA 1 5 NA 1 1 9.36E-49 1 7.72E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 7272198 C T - - - - - - 31 0 0 50 14 28 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.363172147 1.363172147 1 0.93269265 0.93269265 1 NA NA 1 NA NA 1 5 NA 1 1 4.84E-21 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 7355588 C A - - - - - - 32 0 0 52 16 30.8 51 13 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.499489362 0.749744681 2 1.390857461 1.390857461 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-24 1 4.87E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 7461897 G C - - - - - - 27 0 0 53 12 22.6 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.100274662 1.100274662 1 1.232681514 1.232681514 1 NA NA 1 NA NA 1 5 NA 1 1 5.39E-17 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 7577798 C T PTPRM CCDS11840.1 r.? - - intronic 27 0 0 43 7 16.3 48 14 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.793560928 0.793560928 1 1.592668151 0.796334076 2 NA NA 1 NA NA 1 5 NA 1 1 2.15E-09 1 2.51E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 7656360 A G PTPRM CCDS11840.1 r.? - - intronic 27 0 0 47 17 36.2 57 7 12.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.762386847 0.881193424 2 0.670884187 0.670884187 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-27 1 1.66E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 7702030 C G PTPRM CCDS11840.1 r.? - - intronic 47 0 0 28 13 46.4 38 14 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.258970986 1.129485493 2 2.007198218 1.003599109 2 NA NA 1 NA NA 1 5 NA 1 1 4.26E-23 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 7928208 T C PTPRM CCDS11840.1 r.? - - intronic 40 0 0 41 9 22 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.07106383 1.07106383 1 1.40722049 1.40722049 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 8057242 A G PTPRM CCDS11840.1 r.? - - intronic 46 0 0 32 13 40.6 50 21 42 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.976599613 0.988299807 2 2.290824053 1.145412027 2 NA NA 1 NA NA 1 5 NA 1 1 3.88E-22 1 2.79E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 8179328 T C PTPRM CCDS11840.1 r.? - - intronic 38 0 0 48 24 50 50 19 38 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.434235977 1.217117988 2 2.072650334 1.036325167 2 NA NA 1 NA NA 1 5 NA 1 1 1.71E-42 1 5E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 8182237 A G PTPRM CCDS11840.1 r.? - - intronic 30 1 3.3 45 20 44.4 55 17 30.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.161601547 1.080800774 2 1.685391982 0.842695991 2 NA NA 1 NA NA 1 5 NA 0.139615808 1 2.68E-34 1 4.35E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 8202414 T C PTPRM CCDS11840.1 r.? - - intronic 39 0 0 45 9 20 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 1.161775056 1.161775056 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-12 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 8293571 G A PTPRM CCDS11840.1 r.? - - intronic 56 0 0 59 15 25.4 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.236591876 1.236591876 1 1.118140312 1.118140312 1 NA NA 1 NA NA 1 5 NA 1 1 9.9E-22 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 8372170 C T PTPRM CCDS11840.1 r.? - - intronic 22 0 0 40 12 30 45 12 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.460541586 1.460541586 1 1.456309577 1.456309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 6.03E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 8433612 G T - - - - - - 30 0 0 43 18 41.9 38 15 39.5 151 1 0.7 245 80 32.7 15 13 86.7 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.039889749 1.019944874 2 2.154465479 1.077232739 2 1.591990329 0.795995164 2 4.728915367 2.364457684 2 5 4 1 0.530878656 2.06E-30 3.24E-119 4.24E-25 1.27E-28 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 8755298 C T KIAA0802 CCDS11841.1 r.? - - intronic 35 0 0 34 8 23.5 34 2 5.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.144090909 1.144090909 1 0.321806236 0.321806236 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 8880713 G T - - - - - - 38 0 0 35 6 17.1 35 3 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.832508704 0.832508704 1 0.469073497 0.469073497 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 9160166 G C ANKRD12 CCDS42411.1 r.? - - intronic 37 0 0 47 8 17 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.827640232 0.827640232 1 1.025416481 1.025416481 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-10 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 9656860 T A - - - - - - 20 0 0 24 11 45.8 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.229760155 1.114880077 2 1.592668151 1.592668151 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-19 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 9665239 G A - - - - - - 39 0 0 52 10 19.2 57 16 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.934746615 0.934746615 1 1.532670379 0.766335189 2 NA NA 1 NA NA 1 5 NA 1 1 1.28E-13 1 7.28E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 9855308 A G RAB31 CCDS45826.1 r.? - - intronic 34 0 0 56 9 16.1 43 3 7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.783823985 0.783823985 1 0.381804009 0.381804009 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-11 1 0.001328364 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 10133372 A G - - - - - - 20 0 0 37 9 24.3 41 14 34.1 2 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.183038685 1.183038685 1 1.859930958 0.929965479 2 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 1.9E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 10333822 G T - - - - - - 34 0 0 61 32 52.5 53 15 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.555947776 1.277973888 2 1.543579065 0.771789532 2 NA NA 1 NA NA 1 5 NA 1 1 4.41E-57 1 1.6E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 10477467 C G APCDD1 CCDS11849.1 r.? - - intronic 20 0 0 47 9 19.1 44 4 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.929878143 0.929878143 1 0.496345212 0.496345212 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-12 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 10579723 G C - - - - - - 27 0 0 49 11 22.4 49 11 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.090537718 1.090537718 1 1.221772829 1.221772829 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 10635882 A T - - - - - - 37 0 0 40 15 37.5 48 18 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.825676983 0.912838491 2 2.045378619 1.02268931 2 NA NA 1 NA NA 1 5 NA 1 1 1.09E-24 1 2.42E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 10815274 A T ENSG00000168738 ENST00000302079 r.? - - intronic 26 0 0 38 8 21.1 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.027247582 1.027247582 1 1.390857461 1.390857461 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 10987266 A C - - - - - - 42 0 0 52 9 17.3 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.842245648 0.842245648 1 1.767207127 0.883603563 2 NA NA 1 NA NA 1 5 NA 1 1 5.92E-12 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 11039235 A G - - - - - - 33 0 0 48 6 12.5 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.608558994 0.608558994 1 1.161775056 1.161775056 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000016 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 11105365 G A - - - - - - 35 0 0 56 23 41.1 39 17 43.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.000941973 1.000470986 2 2.378093541 1.189046771 2 NA NA 1 NA NA 1 5 NA 1 1 3.22E-38 1 3.51E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 11152553 C A - - - - - - 29 0 0 44 15 34.1 41 21 51.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.660148936 0.830074468 2 2.792623608 1.396311804 2 NA NA 1 NA NA 1 5 NA 1 1 6.12E-24 1 1.17E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 11273395 C T - - - - - - 27 0 0 48 12 25 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.014507795 1.014507795 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-17 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 11368239 G A - - - - - - 42 0 0 63 8 12.7 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.618295938 0.618295938 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-09 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 11529409 C T - - - - - - 43 0 0 46 18 39.1 39 19 48.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.903572534 0.951786267 2 2.656265033 1.328132517 2 NA NA 1 NA NA 1 5 NA 1 1 9.41E-30 1 1.2E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 11645974 G A AMAC1L1 ENST00000424015 r.? - - downstream 48 0 0 66 23 34.8 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.69422824 0.84711412 2 1.489035635 1.489035635 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-36 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 11663689 A T - - - - - - 30 0 0 48 12 25 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.412674833 1.412674833 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-17 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 11979035 C G IMPA2 CCDS11855.1 r.? - - upstream 42 0 0 46 18 39.1 43 16 37.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.903572534 0.951786267 2 2.02901559 1.014507795 2 NA NA 1 NA NA 1 5 NA 1 1 9.41E-30 1 3.56E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 12977260 G C SEH1L CCDS45832.1 r.? - - intronic 36 0 0 44 10 22.7 53 10 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.105143133 1.105143133 1 1.030870824 1.030870824 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 1.57E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 13041848 A C CEP192 CCDS32792.1 r.? - - intronic 33 0 0 42 8 19 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.925009671 0.925009671 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 13404888 T A C18orf1 CCDS32793.1 r.? - - intronic 34 0 0 59 21 35.6 60 21 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.733176015 0.866588008 2 1.909020045 0.954510022 2 NA NA 1 NA NA 1 5 NA 1 1 2.06E-33 1 3.16E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 13541530 G A C18orf1 CCDS32793.1 r.? - - intronic 37 0 0 56 16 28.6 36 3 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.392382979 1.392382979 1 0.452710468 0.452710468 1 NA NA 1 NA NA 1 5 NA 1 1 5.26E-24 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 13695103 C T C18orf19 CCDS11866.1 r.? - - intronic 31 0 0 54 17 31.5 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.533568665 0.766784333 2 1.669028953 0.834514477 2 NA NA 1 NA NA 1 5 NA 1 1 3.02E-26 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 13944394 C G - - - - - - 41 0 0 43 15 34.9 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.699096712 0.849548356 2 1.319951002 1.319951002 1 NA NA 1 NA NA 1 5 NA 1 1 4.05E-24 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 13969216 G A - - - - - - 37 0 0 52 6 11.5 45 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.559874275 0.559874275 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000261 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 14279382 T A - - - - - - 27 0 0 44 15 34.1 45 15 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.660148936 0.830074468 2 1.816296214 0.908148107 2 NA NA 1 NA NA 1 5 NA 1 1 6.12E-24 1 9.14E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 14436231 G A - - - - - - 30 0 0 39 9 23.1 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.124617021 1.124617021 1 0.719973274 0.719973274 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 14446334 G C - - - - - - 16 0 0 24 7 29.2 27 4 14.8 1 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.42159381 1.42159381 1 0.807242762 0.807242762 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 14764749 T C ENSG00000180777 ENST00000320584 r.? - - intronic 36 0 0 53 13 24.5 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.192775629 1.192775629 1 1.499944321 1.499944321 1 NA NA 1 NA NA 1 5 NA 1 1 8.53E-19 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 15112127 T C - - - - - - 30 0 0 29 7 24.1 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.173301741 1.173301741 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 15124281 G A - - - - - - 36 0 0 27 9 33.3 33 2 6.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.621201161 1.621201161 1 0.332714922 0.332714922 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 18536689 A T ROCK1 CCDS11870.2 r.? - - intronic 34 0 0 29 5 17.2 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.837377176 0.837377176 1 1.40722049 1.40722049 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000336 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 18996234 C G GREB1L CCDS45836.1 r.? - - intronic 25 0 0 43 10 23.3 48 9 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.134353965 1.134353965 1 1.025416481 1.025416481 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 19162221 G A ESCO1 CCDS32800.1 r.? - - intronic 25 0 0 25 8 32 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.557911025 1.557911025 1 0.758153675 0.758153675 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 19329354 G T MIB1 CCDS11871.1 r.? - - intronic 39 0 0 47 12 25.5 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.241460348 1.241460348 1 1.521761693 1.521761693 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 19554501 T G - - - - - - 29 0 0 47 16 34 37 4 10.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.655280464 0.827640232 2 0.589069042 0.589069042 1 NA NA 1 NA NA 1 5 NA 1 1 1.98E-25 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 19564807 T C - - - - - - 29 0 0 28 7 25 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.434492205 1.434492205 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 20097443 C T - - - - - - 35 0 0 32 7 21.9 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.066195358 1.066195358 1 1.183592428 1.183592428 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 20166159 T G - - - - - - 25 0 0 51 8 15.7 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.764350097 0.764350097 1 1.003599109 1.003599109 1 NA NA 1 NA NA 1 5 NA 1 1 2.05E-10 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 20385050 G C - - - - - - 29 0 0 48 18 37.5 52 6 11.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.825676983 0.912838491 2 0.627249443 0.627249443 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-29 1 0.000000261 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 21132485 A T NPC1 CCDS11878.1 r.? - - intronic 41 0 0 66 6 9.1 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.443030948 0.443030948 1 1.118140312 1.118140312 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000011 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 21192269 C G ANKRD29 CCDS11879.1 r.? - - intronic 37 0 0 50 21 42 53 21 39.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.044758221 1.02237911 2 2.159919822 1.079959911 2 NA NA 1 NA NA 1 5 NA 1 1 2.79E-35 1 1.3E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 21198081 C T ANKRD29 CCDS11879.1 r.? - - intronic 34 0 0 42 7 16.7 57 17 29.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.813034816 0.813034816 1 1.625394209 0.812697105 2 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 8.82E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 21255503 G A - - - - - - 26 0 0 51 7 13.7 57 11 19.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.787777267 2 2 1 1 1 0.212222733 NA 3 NA 1 NA 0.787777267 0.666980658 0.666980658 1 1.204729209 1.204729209 1 NA NA 1 NA NA 0 5 NA 1 1 7.46E-09 1 7.29E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 21541156 C A - - - - - - 30 0 0 57 20 35.1 68 38 55.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 1.833934374 0.916967187 2 3.489345221 1.251658539 2.787777267 NA NA 1 NA NA 0 5 NA 1 1 9.67E-32 1 5.62E-69 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 21872825 T C OSBPL1A CCDS11884.1 r.? - - intronic 29 0 0 38 20 52.6 54 27 50 2 0 0 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 2.748289119 1.166302313 2.356412304 3.121060126 1.119551466 2.787777267 NA NA 1 NA NA 1 5 NA 1 1 2.94E-36 1 1.27E-47 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 22048286 G A HRH4 CCDS11887.1 r.? - - intronic 31 0 0 62 11 17.7 58 11 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.924804514 0.924804514 1 1.186002848 1.186002848 1 NA NA 1 NA NA 0 5 NA 1 1 1.96E-14 1 8.96E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 22123374 A T - - - - - - 45 0 0 51 30 58.8 47 21 44.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 3.072231943 1.303775209 2.356412304 2.790227753 1.00087901 2.787777267 NA NA 1 NA NA 0 5 NA 1 1 9.63E-56 1 5.29E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 22360774 G T - - - - - - 46 0 0 62 16 25.8 48 7 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 1.348020138 1.348020138 1 0.911349557 0.911349557 1 NA NA 1 NA NA 0 5 NA 1 1 3.36E-23 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 22621496 T A - - - - - - 22 0 0 73 40 54.8 46 24 52.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 2.863236573 1.215083018 2.356412304 3.258386771 1.16881173 2.787777267 NA NA 1 NA NA 0 5 NA 1 1 4.88E-72 1 4.23E-43 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 22646240 T C ZNF521 CCDS32806.1 r.? - - intronic 22 0 0 51 10 19.6 38 14 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 1.024077314 1.024077314 1 2.297100253 1.148550126 2 NA NA 1 NA NA 0 5 NA 1 1 1.04E-13 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 22732973 C A ZNF521 CCDS32806.1 r.? - - intronic 40 0 0 52 24 46.2 63 36 57.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 2.413896527 1.024394807 2.356412304 3.564250664 1.278527774 2.787777267 NA NA 1 NA NA 0 5 NA 1 1 2.22E-41 1 6.24E-66 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 22924143 G A ZNF521 CCDS32806.1 r.? - 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- - - - - 40 0 0 63 12 19 57 9 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.992728009 0.992728009 1 0.986255 0.986255 1 NA NA 0 NA NA 0 5 NA 1 1 5.15E-16 1 1.42E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 31925449 G A - - - - - - 42 0 0 56 9 16.1 49 5 10.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.841206365 0.841206365 1 0.636696266 0.636696266 1 NA NA 0 NA NA 0 5 NA 1 1 1.2E-11 1 0.00000496 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 31944708 A G - - - - - - 41 0 0 49 7 14.3 50 12 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.747158449 0.747158449 1 1.49810886 1.49810886 1 NA NA 0 NA NA 0 5 NA 1 1 5.58E-09 1 2.49E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 32322050 G A DTNA CCDS45848.1 r.? - 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- - - - - 17 0 0 34 9 26.5 43 29 67.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 1.384594328 1.384594328 1 4.20718905 1.509155376 2.787777267 NA NA 0 NA NA 1 5 NA 1 1 9.15E-14 1 1.36E-56 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 37243928 T A AC105201.1 ENST00000510201 r.? - - intronic 34 0 0 49 6 12.2 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.637435879 0.637435879 1 1.061160443 1.061160443 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000182 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 37964135 T C - - - - - - 45 0 0 46 8 17.4 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.909129861 0.909129861 1 0.99873924 0.99873924 1 NA NA 0 NA NA 1 5 NA 1 1 8.61E-11 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 37976141 T A - - - - - - 31 0 0 45 10 22.2 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 1.159924305 1.159924305 1 1.186002848 1.186002848 1 NA NA 0 NA NA 1 5 NA 1 1 2.66E-14 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 38276859 A C - - - - - - 45 0 0 64 30 46.9 45 19 42.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 2.450470717 1.03991594 2.356412304 2.634174746 0.944901437 2.787777267 NA NA 0 NA NA 1 5 NA 1 1 1.28E-51 1 4.11E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 38477244 G T - - - - - - 36 0 0 51 10 19.6 55 11 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 1.024077314 1.024077314 1 1.24842405 1.24842405 1 NA NA 0 NA NA 1 5 NA 1 1 1.04E-13 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 38526935 C G - - - - - - 33 0 0 54 6 11.1 42 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.579962153 0.579962153 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000329 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 38745161 G A - - - - - - 28 0 0 43 11 25.6 53 7 13.2 1 0 0 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 1.33757037 1.33757037 1 0.823959873 0.823959873 1 NA NA 0 NA NA 1 5 NA 1 1 2.42E-16 1 9.85E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 39167672 G A - - - - - - 22 0 0 50 9 18 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.940479166 0.940479166 1 1.329571614 1.329571614 1 NA NA 0 NA NA 1 5 NA 1 1 4.07E-12 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 39219667 C G - - - - - - 35 0 0 49 20 40.8 41 20 48.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 2.131752777 1.065876389 2 3.046154683 1.092682231 2.787777267 NA NA 0 NA NA 1 5 NA 1 1 2.35E-33 1 2.32E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 39349565 A T - - - - - - 35 0 0 49 11 22.4 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 1.170374074 1.170374074 1 1.335813734 1.335813734 1 NA NA 0 NA NA 1 5 NA 1 1 1.19E-15 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 39474158 T G - - - - - - 36 0 0 42 24 57.1 34 14 41.2 0 0 NA 2 2 100 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 2.983408911 1.266081028 2.356412304 2.571753544 0.922510408 2.787777267 5.224884257 2.217304777 2.356412304 NA NA 1 5 NA 1 1 1.93E-44 0.000025 7.74E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 39656379 C G PIK3C3 CCDS11920.1 r.? - - intronic 32 0 0 54 11 20.4 42 4 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 1.065876389 1.065876389 1 0.593001424 0.593001424 1 NA NA 0 NA NA 1 5 NA 1 1 3.84E-15 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 40367550 A T RIT2 CCDS11921.1 r.? - - intronic 34 0 0 56 10 17.9 46 5 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.935254282 0.935254282 1 0.680391107 0.680391107 1 NA NA 0 NA NA 1 5 NA 1 1 2.82E-13 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 40417249 C T RIT2 CCDS11921.1 r.? - - intronic 19 0 0 36 7 19.4 51 8 15.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 1.013627546 1.013627546 1 0.98001288 0.98001288 1 NA NA 0 NA NA 1 5 NA 1 1 5.74E-10 1 2.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 40450671 A G RIT2 CCDS11921.1 r.? - - intronic 34 0 0 48 7 14.6 48 3 6.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.762833102 0.762833102 1 0.387011456 0.491270149 0.787777267 NA NA 0 NA NA 1 5 NA 1 1 4.81E-09 1 0.001827434 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 40760080 C T - - - - - - 37 0 0 47 11 23.4 55 5 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 1.222622916 1.222622916 1 0.568032943 0.568032943 1 NA NA 0 NA NA 1 5 NA 1 1 7.21E-16 1 0.00000883 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 40959367 C T - - - - - - 41 0 0 60 9 15 51 11 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.783732639 0.783732639 1 1.348297974 1.348297974 1 NA NA 0 NA NA 1 5 NA 1 1 2.29E-11 1 1.94E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 41049640 C T - - - - - - 37 0 0 48 7 14.6 51 7 13.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.762833102 0.762833102 1 0.855170474 0.855170474 1 NA NA 0 NA NA 1 5 NA 1 1 4.81E-09 1 7.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 41398736 C T - - - - - - 30 0 0 46 10 21.7 52 7 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 1.133799884 1.133799884 1 0.842686234 0.842686234 1 NA NA 0 NA NA 1 5 NA 1 1 3.38E-14 1 8.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 41636915 A G - - - - - - 33 0 0 48 10 20.8 55 6 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 1.086775926 1.086775926 1 0.680391107 0.680391107 1 NA NA 0 NA NA 1 5 NA 1 1 5.37E-14 1 0.000000367 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 41821585 G T - - - - - - 35 0 0 51 9 17.6 52 8 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.919579629 0.919579629 1 0.961286519 0.961286519 1 NA NA 0 NA NA 1 5 NA 1 1 4.92E-12 1 2.42E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 41860157 G T - - - - - - 29 0 0 59 11 18.6 60 10 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.971828472 0.971828472 1 1.042434082 1.042434082 1 NA NA 0 NA NA 1 5 NA 1 1 1.1E-14 1 5.86E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 42140453 T C - - - - - - 41 0 0 45 16 35.6 47 22 46.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 1.860058796 0.930029398 2 2.921312278 1.047900172 2.787777267 NA NA 0 NA NA 1 5 NA 1 1 8.61E-26 1 3.14E-38 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 42258157 T A SETBP1 CCDS11923.2 r.? - - upstream 36 0 0 54 6 11.1 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.579962153 0.579962153 1 0.99873924 0.99873924 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000329 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 42542037 G C SETBP1 CCDS11923.2 r.? - - intronic 38 0 0 63 11 17.5 49 11 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.914354745 0.914354745 1 1.398234936 1.398234936 1 NA NA 0 NA NA 1 5 NA 1 1 2.37E-14 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 42750514 C T - - - - - - 33 0 0 55 12 21.8 51 23 45.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.787777267 2 2 1 1 1 0.212222733 NA 3 NA 1 NA 0.787777267 1.061326886 1.061326886 1 2.815196234 1.009835422 2.787777267 NA NA 0 NA NA 1 5 NA 1 1 8.78E-17 1 2.05E-39 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 43332183 C A SLC14A1 CCDS45860.1 r.3803c>a c.? p.? 3'UTR variant 29 0 0 39 21 53.8 46 24 52.2 0 0 NA 2 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.619237911 1.309618956 2 2.847167038 1.423583519 2 0 0 1 NA NA 1 5 NA 1 1 2.73E-38 1 4.23E-43 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 43442664 C G KIAA1632 CCDS11926.2 r.? - - intronic 30 0 0 54 16 29.6 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.441067698 1.441067698 1 1.036325167 1.036325167 1 NA NA 1 NA NA 1 5 NA 1 1 2.69E-24 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 43668493 A C ATP5A1 CCDS11927.1 r.? - - intronic 39 0 0 42 22 52.4 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.551079304 1.275539652 2 1.598122494 1.598122494 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-39 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 43684890 C G ATP5A1 CCDS11927.1 r.? - - upstream 39 0 0 45 9 20 44 13 29.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 1.60903118 0.80451559 2 NA NA 1 NA NA 1 5 NA 1 1 1.47E-12 1 5.49E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 44156729 G C LOXHD1 ENST00000398722 r.? - - intronic 31 0 0 48 15 31.2 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.51896325 0.759481625 2 0.949055679 0.949055679 1 NA NA 1 NA NA 1 5 NA 1 1 2.86E-23 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 44749673 C G ENSG00000215474 ENST00000425639 r.? - - intronic 41 0 0 49 7 14.3 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 0.992690423 0.992690423 1 NA NA 1 NA NA 1 5 NA 1 1 5.58E-09 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 44858345 A T - - - - - - 30 0 0 49 15 30.6 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.489752418 1.489752418 1 0.87814922 0.87814922 1 NA NA 1 NA NA 1 5 NA 1 1 4.1E-23 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 44903968 A G - - - - - - 38 0 0 46 8 17.4 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.84711412 0.84711412 1 1.014507795 1.014507795 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-11 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 44911555 C G - - - - - - 37 0 0 43 18 41.9 45 17 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.039889749 1.019944874 2 2.061741648 1.030870824 2 NA NA 1 NA NA 1 5 NA 1 1 2.06E-30 1 7.37E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 44972604 T C - - - - - - 36 0 0 46 10 21.7 55 5 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.056458414 1.056458414 1 0.496345212 0.496345212 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-14 1 0.00000883 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 44985223 A G - - - - - - 34 0 0 44 11 25 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.15086637 1.15086637 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 45077515 T A - - - - - - 29 0 0 53 9 17 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.827640232 0.827640232 1 1.118140312 1.118140312 1 NA NA 1 NA NA 1 5 NA 1 1 7.1E-12 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 46008461 C T - - - - - - 39 0 0 66 20 30.3 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.475147002 0.737573501 2 0.779971047 0.779971047 1 NA NA 1 NA NA 1 5 NA 1 1 3.11E-30 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 46093999 G C KIAA0427 CCDS45864.1 r.? - - intronic 28 0 0 42 8 19 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.925009671 0.925009671 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 46771417 C A DYM CCDS11937.1 r.? - - intronic 35 0 0 48 21 43.8 47 16 34 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.132390716 1.066195358 2 1.854476615 0.927238307 2 NA NA 1 NA NA 1 5 NA 1 1 9.35E-36 1 1.98E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 47129545 C T - - - - - - 23 0 0 49 7 14.3 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 0.779971047 0.779971047 1 NA NA 1 NA NA 1 5 NA 1 1 5.58E-09 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 47157671 C A - - - - - - 23 0 0 51 10 19.6 48 7 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 0.796334076 0.796334076 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-13 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 47779381 C A CCDC11 CCDS11940.2 r.? - - intronic 34 0 0 25 9 36 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.752649903 0.876324952 2 1.167229399 1.167229399 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 47903343 T A SKA1 CCDS11946.1 r.? - - intronic 24 0 0 38 4 10.5 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.511189555 0.511189555 1 0.850877506 0.850877506 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000403 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 48001370 G A - - - - - - 43 0 0 49 17 34.7 48 19 39.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.689359768 0.844679884 2 2.159919822 1.079959911 2 NA NA 1 NA NA 1 5 NA 1 1 4.26E-27 1 1.92E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 49026536 C A ENSG00000227115 ENST00000435144 r.? - - intronic 22 0 0 44 7 15.9 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.774087041 0.774087041 1 1.058142539 1.058142539 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 49482443 G A - - - - - - 22 0 0 48 21 43.8 36 16 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.132390716 1.066195358 2 2.421728285 1.210864143 2 NA NA 1 NA NA 1 5 NA 1 1 9.35E-36 1 1.01E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 49996696 G C DCC CCDS11952.1 r.? - - intronic 45 0 0 52 6 11.5 55 11 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.559874275 0.559874275 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000261 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 50135894 T A DCC CCDS11952.1 r.? - - intronic 27 0 0 48 11 22.9 59 7 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.114880077 1.114880077 1 0.649066815 0.649066815 1 NA NA 1 NA NA 1 5 NA 1 1 9.31E-16 1 2.12E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 50144977 T C DCC CCDS11952.1 r.? - - intronic 24 0 0 48 8 16.7 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.813034816 0.813034816 1 0.954510022 0.954510022 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-10 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 50335390 T C DCC CCDS11952.1 r.? - - intronic 33 0 0 57 8 14 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.681586074 0.681586074 1 1.303587973 1.303587973 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-10 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 50371600 C T DCC CCDS11952.1 r.? - - intronic 34 0 0 38 7 18.4 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.895798839 0.895798839 1 1.04177951 1.04177951 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 50472819 C T DCC CCDS11952.1 r.? - - intronic 37 0 0 60 25 41.7 41 17 41.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.030152805 1.015076402 2 2.263552339 1.131776169 2 NA NA 1 NA NA 1 5 NA 1 1 1.31E-41 1 1.03E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 50663475 A G DCC CCDS11952.1 r.? - - intronic 49 0 0 54 22 40.7 34 15 44.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.981468085 0.990734043 2 2.405365256 1.202682628 2 NA NA 1 NA NA 1 5 NA 1 1 1.6E-36 1 5.18E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 50721480 C T DCC CCDS11952.1 r.? - - intronic 44 0 0 43 10 23.3 54 11 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.134353965 1.134353965 1 1.112685969 1.112685969 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 3.84E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 50905634 G C DCC CCDS11952.1 r.? - - intronic 33 0 0 56 14 25 44 5 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 0.6217951 0.6217951 1 NA NA 1 NA NA 1 5 NA 1 1 2.91E-20 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 51298829 C A - - - - - - 32 0 0 42 5 11.9 50 13 26 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.579348162 0.579348162 1 1.418129176 1.418129176 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000228 1 3.65E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 52014881 T A - - - - - - 33 0 0 52 7 13.5 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.657243714 0.657243714 1 0.959964365 0.959964365 1 NA NA 1 NA NA 1 5 NA 1 1 8.58E-09 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 52274634 G A - - - - - - 22 0 0 51 25 49 37 18 48.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.385551257 1.192775629 2 2.65081069 1.325405345 2 NA NA 1 NA NA 1 5 NA 1 1 6.52E-44 1 6.16E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 52317534 G T - - - - - - 41 0 0 62 13 21 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.02237911 1.02237911 1 0.93269265 0.93269265 1 NA NA 1 NA NA 1 5 NA 1 1 8.08E-18 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 52495796 C G RAB27B CCDS11958.1 r.89c>g c.? p.? 5'UTR variant 49 0 0 44 12 27.3 23 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.329092843 1.329092843 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 52534120 C G RAB27B CCDS11958.1 r.? - - intronic 31 0 0 66 33 50 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.434235977 1.217117988 2 1.396311804 1.396311804 1 NA NA 1 NA NA 1 5 NA 1 1 7.16E-58 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 52948707 C A TCF4 CCDS42438.1 r.? - - intronic 39 0 0 51 19 37.3 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.815940039 0.907970019 2 1.521761693 1.521761693 1 NA NA 1 NA NA 1 5 NA 1 1 7.94E-31 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 53044361 C T TCF4 CCDS42438.1 r.? - - intronic 36 0 0 45 11 24.4 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.187907157 1.187907157 1 0.976327394 0.976327394 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-16 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 53453289 G C AC022031.1 ENST00000498862 r.? - - upstream 31 0 0 46 6 13 41 12 29.3 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.632901354 0.632901354 1 1.598122494 1.598122494 1 NA NA 1 0 0 1 5 NA 1 1 0.000000123 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 53601418 A G - - - - - - 34 0 0 53 22 41.5 50 12 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.020415861 1.01020793 2 1.309042316 1.309042316 1 NA NA 1 NA NA 1 5 NA 1 1 9.5E-37 1 2.49E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 53610136 T G - - - - - - 33 0 0 54 8 14.8 47 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.720533849 0.720533849 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.31E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 53681198 G A ENSG00000206129 ENST00000382897 r.? - - intronic 37 0 0 49 7 14.3 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 1.445400891 1.445400891 1 NA NA 1 NA NA 1 5 NA 1 1 5.58E-09 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 53710418 A C ENSG00000206129 ENST00000382897 r.? - - intronic 34 0 0 45 9 20 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-12 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 53908097 A G - - - - - - 34 0 0 35 6 17.1 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.832508704 0.832508704 1 0.93269265 0.93269265 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 54018982 G A - - - - - - 39 0 0 50 6 12 39 1 2.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.584216634 0.584216634 1 0.141812918 0.141812918 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000206 1 0.177567718 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 54165306 T A - - - - - - 33 0 0 51 11 21.6 64 13 20.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.051589942 1.051589942 1 1.107231626 1.107231626 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-15 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 54165839 C T - - - - - - 46 0 0 63 25 39.7 55 18 32.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.932783366 0.966391683 2 1.783570156 0.891785078 2 NA NA 1 NA NA 1 5 NA 1 1 6.06E-41 1 4.61E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 54198645 C A - - - - - - 28 0 0 35 16 45.7 34 14 41.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.224891683 1.112445841 2 2.24718931 1.123594655 2 NA NA 1 NA NA 1 5 NA 1 1 5.66E-28 1 7.74E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 54198651 A C - - - - - - 27 0 0 36 16 44.4 37 14 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.161601547 1.080800774 2 2.061741648 1.030870824 2 NA NA 1 NA NA 1 5 NA 1 1 1.01E-27 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 54280175 C T TXNL1 CCDS11961.1 r.? - - intronic 27 0 0 43 17 39.5 47 14 29.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.923046422 0.961523211 2 1.625394209 0.812697105 2 NA NA 1 NA NA 1 5 NA 1 1 2.84E-28 1 1.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 54529398 A G WDR7 CCDS11962.1 r.? - - intronic 45 0 0 54 22 40.7 46 23 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.981468085 0.990734043 2 2.727171492 1.363585746 2 NA NA 1 NA NA 1 5 NA 1 1 1.6E-36 1 8.79E-41 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 54825544 T A - - - - - - 31 0 0 50 7 14 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.681586074 0.681586074 1 1.303587973 1.303587973 1 NA NA 1 NA NA 1 5 NA 1 1 6.46E-09 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 54998589 G T - - - - - - 50 0 0 51 10 19.6 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 1.123594655 1.123594655 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-13 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 55012182 T C - - - - - - 29 0 0 45 16 35.6 46 16 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.733176015 0.866588008 2 1.898111359 0.949055679 2 NA NA 1 NA NA 1 5 NA 1 1 8.61E-26 1 1.31E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 55138379 C T ONECUT2 CCDS42440.1 r.? - - intronic 35 0 0 40 6 15 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.730270793 0.730270793 1 0.883603563 0.883603563 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-08 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 55257613 G T FECH CCDS11964.1 r.? - - upstream 37 0 0 55 8 14.5 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.705928433 0.705928433 1 1.603576837 1.603576837 1 NA NA 1 NA NA 1 5 NA 1 1 3.86E-10 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 55826758 G C NEDD4L CCDS45872.1 r.? - - intronic 25 0 0 53 27 50.9 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.478052224 1.239026112 2 1.521761693 1.521761693 1 NA NA 1 NA NA 1 5 NA 1 1 6.4E-48 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 56258257 T C ALPK2 CCDS11966.2 r.? - - intronic 28 0 0 43 9 20.9 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.017510638 1.017510638 1 1.025416481 1.025416481 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 56283873 G A ALPK2 CCDS11966.2 r.? - - intronic 27 0 0 48 11 22.9 49 9 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.114880077 1.114880077 1 1.003599109 1.003599109 1 NA NA 1 NA NA 1 5 NA 1 1 9.31E-16 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 56487363 A C - - - - - - 39 0 0 49 19 38.8 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.888967118 0.944483559 2 1.876293987 0.938146993 2 NA NA 1 NA NA 1 5 NA 1 1 3.12E-31 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 56745505 T A - - - - - - 29 0 0 55 10 18.2 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.886061896 0.886061896 1 0.883603563 0.883603563 1 NA NA 1 NA NA 1 5 NA 1 1 2.33E-13 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 56794401 C T - - - - - - 27 0 0 50 8 16 45 13 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.778955513 0.778955513 1 1.576305122 1.576305122 1 NA NA 1 NA NA 1 5 NA 1 1 1.74E-10 1 7.68E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 56909470 T A - - - - - - 27 0 0 49 18 36.7 32 16 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.786729207 0.893364603 2 2.727171492 1.363585746 2 NA NA 1 NA NA 1 5 NA 1 1 3.8E-29 1 8.51E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 57127746 T C CCBE1 CCDS32838.1 r.? - - intronic 34 0 0 61 16 26.2 48 9 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.275539652 1.275539652 1 1.025416481 1.025416481 1 NA NA 1 NA NA 1 5 NA 1 1 2.5E-23 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 57611651 A G - - - - - - 29 0 0 31 10 32.3 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 58380856 C A - - - - - - 35 0 0 33 12 36.4 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 0.915400891 0.915400891 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 58397222 T A - - - - - - 39 0 0 28 8 28.6 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.219383073 1.219383073 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 58584710 C G - - - - - - 29 0 0 27 10 37 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 1.267743875 1.267743875 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 58818205 C T - - - - - - 15 0 0 22 9 40.9 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.173205029 1.173205029 1 0.55614922 0.55614922 1 NA NA 1 NA NA 1 5 NA 1 1 9.16E-16 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 59496587 C T RNF152 CCDS11978.1 r.? - - intronic 21 0 0 27 7 25.9 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.742934236 0.742934236 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 6.36E-11 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 59600661 G T - - - - - - 25 0 0 30 10 33.3 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.718503341 0.718503341 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 60203696 G C ZCCHC2 CCDS45880.1 r.? - - intronic 39 0 0 47 14 29.8 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.854804642 0.854804642 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 61185856 A G - - - - - - 31 0 0 34 10 29.4 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.843330754 0.843330754 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 61316206 G A SERPINB4 CCDS11986.1 r.? - - upstream 33 0 0 30 10 33.3 36 11 30.6 0 0 NA 0 0 NA 1 1 100 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.057028953 1.057028953 1 NA NA 1 3.454342984 3.454342984 1 5 NA 1 1 2.68E-16 1 2.62E-17 0.005 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 62340037 T A - - - - - - 29 0 0 28 5 17.9 29 3 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.51345648 0.51345648 1 0.355797327 0.355797327 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000279 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 62562933 T C - - - - - - 37 0 0 24 10 41.7 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 0.639053452 0.639053452 1 NA NA 1 NA NA 1 5 NA 1 1 1.8E-17 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 62584102 G T - - - - - - 44 0 0 25 14 56 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.606344294 1.606344294 1 1.057028953 1.057028953 1 NA NA 1 NA NA 1 5 NA 1 1 2.58E-26 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 62610103 T C - - - - - - 37 0 0 37 14 37.8 41 14 34.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.084282398 1.084282398 1 1.177930958 1.177930958 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-23 1 1.9E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 63512933 C G CDH7 CCDS11993.1 r.? - - intronic 43 0 0 22 6 27.3 20 9 45 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 1.554454343 1.554454343 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-09 1 3.12E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 63639056 T A - - - - - - 25 0 0 23 8 34.8 17 2 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 0.407612472 0.407612472 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 0.003234386 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 63886386 G T - - - - - - 43 0 0 28 12 42.9 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 64223162 C A CDH19 CCDS11994.1 r.? - - intronic 32 0 0 21 8 38.1 17 5 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.092887814 1.092887814 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 7.5E-14 1 1.84E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 64236877 T A CDH19 CCDS11994.1 r.? - - intronic 52 0 0 31 9 29 20 7 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 1.209020045 1.209020045 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 5.72E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 64948983 G C - - - - - - 41 0 0 25 10 40 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 65992004 G T - - - - - - 32 0 0 32 10 31.2 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 66145454 T C - - - - - - 50 0 0 25 7 28 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 0.887766147 0.887766147 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 66328716 T C - - - - - - 32 0 0 22 9 40.9 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.173205029 1.173205029 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 5 NA 1 1 9.16E-16 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 66487026 C T CCDC102B CCDS11996.2 r.? - - intronic 44 0 0 35 7 20 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 66725490 G T CCDC102B CCDS11996.2 r.? - - downstream 36 0 0 34 13 38.2 20 8 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.095756286 1.095756286 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 4.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 66791060 G C - - - - - - 29 0 0 29 11 37.9 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 1.184839644 1.184839644 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 66805666 G A - - - - - - 26 0 0 35 13 37.1 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.064203095 1.064203095 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 66871034 G A - - - - - - 48 0 0 34 14 41.2 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.181810445 1.181810445 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 7.74E-24 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 67012952 C A - - - - - - 38 0 0 27 10 37 32 13 40.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 1.402463252 1.402463252 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 67071488 T A DOK6 CCDS32841.1 r.? - - intronic 36 0 0 42 14 33.3 46 13 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.977579065 0.977579065 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-22 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 67727255 G A RTTN CCDS42443.1 r.4839c>u c.4771C>T p.R1591W missense 39 0 0 30 14 46.7 24 10 41.7 193 0 0 75 25 33.3 230 7 3 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.339576402 1.339576402 1 1.440461024 1.440461024 1 0.955201161 0.955201161 1 0.10363029 0.10363029 1 5 5 1 1 8.24E-25 1.23E-38 1.8E-17 0.000182503 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 18 67891567 C T - - - - - - 29 0 0 30 13 43.3 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.242048356 1.242048356 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 68135939 C A AC013558.1 ENST00000511515 r.? - - intronic 28 0 0 39 12 30.8 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 68241863 T A AC013558.1 ENST00000511515 r.? - - intronic 33 0 0 35 14 40 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.212474388 1.212474388 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-23 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 68412196 C T - - - - - - 28 0 0 30 11 36.7 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 0.525060134 0.525060134 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 68699843 A G - - - - - - 32 0 0 30 13 43.3 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.242048356 1.242048356 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 68702174 G T - - - - - - 45 0 0 33 17 51.5 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.477263056 1.477263056 1 0.639053452 0.639053452 1 NA NA 1 NA NA 1 5 NA 1 1 8.25E-31 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 68705072 A T - - - - - - 29 0 0 29 16 55.2 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.583396518 1.583396518 1 0.670142539 0.670142539 1 NA NA 1 NA NA 1 5 NA 1 1 9.74E-30 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 68857892 A G - - - - - - 25 0 0 26 9 34.6 35 13 37.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.281561247 1.281561247 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 1.63E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 70178875 G T - - - - - - 26 0 0 33 9 27.3 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 0.835951002 0.835951002 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 70705541 C A - - - - - - 35 0 0 31 10 32.3 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 70817113 A G - - - - - - 37 0 0 30 12 40 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 71526413 C A - - - - - - 42 0 0 21 6 28.6 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 7.95E-10 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 72591137 T C ZNF407 CCDS45885.1 r.? - - intronic 40 0 0 33 9 27.3 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 72708413 A T ZNF407 CCDS45885.1 r.? - - intronic 37 0 0 28 7 25 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 73138939 G A C18orf62 CCDS32845.1 r.? - - intronic 25 0 0 33 16 48.5 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.391208897 1.391208897 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-28 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 73938145 C T - - - - - - 34 0 0 36 11 30.6 16 4 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.877752418 0.877752418 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 0.00000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 74174357 C T ZNF516 ENST00000443185 r.? - - intronic 32 0 0 39 9 23.1 33 16 48.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.662617021 0.662617021 1 1.675356347 1.675356347 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 1.64E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 75120385 C A - - - - - - 34 0 0 28 13 46.4 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.330970986 1.330970986 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 4.26E-23 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 75212716 A T - - - - - - 36 0 0 28 10 35.7 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 75523070 T C - - - - - - 31 0 0 39 16 41 10 8 80 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.176073501 1.176073501 1 2.763474388 2.763474388 1 NA NA 1 NA NA 1 5 NA 1 1 5.16E-27 1 1.74E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 75823667 G A - - - - - - 37 0 0 32 10 31.2 19 8 42.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 1.454278396 1.454278396 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 2.81E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 76118241 A G - - - - - - 32 0 0 41 17 41.5 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.190415861 1.190415861 1 1.091572383 1.091572383 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-28 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 76346967 G T - - - - - - 30 0 0 37 15 40.5 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.161731141 1.161731141 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 2.58E-25 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 76434246 A T - - - - - - 22 0 0 27 6 22.2 22 7 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.636800774 0.636800774 1 1.098481069 1.098481069 1 NA NA 1 NA NA 1 5 NA 1 1 4.23E-09 1 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 76449126 G A - - - - - - 35 0 0 24 6 25 19 5 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.908492205 0.908492205 1 NA NA 1 NA NA 1 5 NA 1 1 1.95E-09 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 76711891 T C - - - - - - 26 0 0 36 15 41.7 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-25 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 76724882 G C - - - - - - 20 0 0 29 8 27.6 11 5 45.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 1.571726058 1.571726058 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 1.41E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 76937380 T C ATP9B CCDS12014.1 r.? - - intronic 28 1 3.6 27 10 37 21 6 28.6 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 0.130947004 1 7.62E-17 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 77047018 G C ATP9B CCDS12014.1 r.? - - intronic 22 0 0 26 8 30.8 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 77392216 C T - - - - - - 21 0 0 18 9 50 38 14 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.271198218 1.271198218 1 NA NA 1 NA NA 1 5 NA 1 1 9.12E-17 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 438504 C T SHC2 CCDS45891.1 r.? - - intronic 26 0 0 33 17 51.5 14 8 57.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.370495382 1 1 1 0 0 0.629504618 1 2 NA 0 NA 0.370495382 NA 1.668068178 1.217127908 1.370495382 1.972429844 1.972429844 1 NA NA 0 NA NA 1 5 NA 1 1 8.25E-31 1 1.14E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 935177 G C ARID3A CCDS12050.1 r.? - - intronic 26 0 0 39 10 25.6 15 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.370495382 1 1 1 0 0 0.629504618 1 2 NA 0 NA 0.370495382 NA 0.829175638 0.829175638 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 5.44E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 1502002 G T ADAMTSL5 CCDS12071.1 r.? - - downstream 34 0 0 32 17 53.1 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.370495382 1 1 1 0 0 0.629504618 1 2 NA 0 NA 0.370495382 NA 1.719891655 1.254941591 1.370495382 0.987942094 0.987942094 1 NA NA 0 NA NA 1 5 NA 1 1 4.02E-31 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 1603592 C G UQCR11 CCDS12073.1 r.? - - intronic 26 0 0 24 8 33.3 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.370495382 1 1 1 0 0 0.629504618 1 2 NA 0 NA 0.370495382 NA 1.078576123 1.078576123 1 0.929218263 0.929218263 1 NA NA 0 NA NA 1 5 NA 1 1 2.68E-13 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 1947279 T G CSNK1G2 CCDS12077.1 r.? - - intronic 39 0 0 21 7 33.3 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.370495382 1 1 1 0 0 0.629504618 1 2 NA 0 NA 0.370495382 NA 1.078576123 1.078576123 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-12 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 2350729 G T AC005258.1 ENST00000507172 r.? - - intronic 20 0 0 46 11 23.9 28 4 14.3 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.924564797 0.924564797 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 5.55E-16 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 2508138 C T GNG7 CCDS12091.1 r.? - - downstream 22 0 0 48 10 20.8 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 5.37E-14 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 2558913 C G GNG7 CCDS12091.1 r.? - - intronic 30 0 0 49 12 24.5 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.947775629 0.947775629 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 2788734 C T THOP1 CCDS12095.1 r.? - - intronic 17 0 0 44 15 34.1 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 1.621380846 1.621380846 1 NA NA 1 NA NA 1 5 NA 1 1 6.12E-24 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 3115278 C T GNA11 CCDS12103.1 r.? - - intronic 26 1 3.8 44 11 25 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.300668151 1.300668151 1 NA NA 1 NA NA 1 5 NA 0.122190858 1 3.22E-16 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 3657022 C A PIP5K1C CCDS32872.1 r.? - - intronic 33 0 0 44 12 27.3 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 3793047 C T MATK CCDS12113.1 r.? - - intronic 29 0 0 39 12 30.8 25 9 36 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 1.603563474 1.603563474 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 3.71E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 3923277 T A ATCAY CCDS45923.1 r.? - - intronic 27 0 0 47 11 23.4 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.905222437 0.905222437 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 7.21E-16 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 3926487 C T ATCAY CCDS45923.1 r.3443c>u c.? p.? 3'UTR variant 26 0 0 44 8 18.2 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 4027175 G A PIAS4 CCDS12118.1 r.? - - intronic 29 1 3.4 41 19 46.3 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.791102515 1.791102515 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 5 NA 0.135292269 1 4.2E-33 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 4205424 A T ANKRD24 CCDS45925.1 r.? - - intronic 32 0 0 35 16 45.7 42 14 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.767891683 1.767891683 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 5.66E-28 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 4211884 G C ANKRD24 CCDS45925.1 r.? - - intronic 27 0 0 44 11 25 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 5107127 C A KDM4B CCDS12138.1 r.? - - intronic 29 0 0 45 11 24.4 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.162583519 1.162583519 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-16 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 5146471 C G KDM4B CCDS12138.1 r.? - - intronic 17 0 0 33 8 24.2 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 5329205 G A PTPRS CCDS45930.1 r.? - - intronic 14 0 0 37 10 27 38 4 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.467706013 0.467706013 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 5352488 T C - - - - - - 34 0 0 36 5 13.9 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.537717602 0.537717602 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000104 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 5781493 C T TMEM146 CCDS12149.2 r.? - - downstream 29 0 0 51 11 21.6 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-15 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 5966845 C T RANBP3 CCDS42478.1 r.? - - intronic 27 0 0 51 18 35.3 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.3655706 1.3655706 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 9.1E-29 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 6164745 G A ACSBG2 CCDS12159.1 r.? - - intronic 27 0 0 47 19 40.4 28 6 21.4 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.562862669 1.562862669 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.16E-31 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 6171121 A C ACSBG2 CCDS12159.1 r.? - - intronic 38 0 0 35 12 34.3 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.32688588 1.32688588 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 6315773 G A ACER1 CCDS12161.1 r.? - - intronic 31 0 0 43 16 37.2 29 2 6.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.439071567 1.439071567 1 0.307349666 0.307349666 1 NA NA 1 NA NA 1 5 NA 1 1 3.56E-26 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 6555159 T A - - - - - - 35 0 0 39 10 25.6 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 6595652 C T CD70 CCDS12170.1 r.? - - upstream 33 0 0 17 5 29.4 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.84E-08 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 6638228 A T - - - - - - 21 0 0 35 10 28.6 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.318485523 1.318485523 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 6690380 A C C3 CCDS32883.1 r.? - - intronic 31 0 0 35 8 22.9 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 6907871 A G EMR1 CCDS12175.1 r.? - - intronic 32 0 0 42 10 23.8 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 7315452 G T - - - - - - 15 0 0 31 9 29 24 7 29.2 0 0 NA 1 1 100 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 1.300668151 1.300668151 1 3.868471954 3.868471954 1 NA NA 1 5 NA 1 1 3.57E-14 0.005 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 7510805 G A ARHGEF18 CCDS45946.1 r.? - - intronic 27 0 0 37 8 21.6 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 1.19376392 1.19376392 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 7584047 C G MCOLN1 CCDS12180.1 r.? - - upstream 30 0 0 43 10 23.3 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 8109610 C T ENSG00000230222 ENST00000444490 r.? - - intronic 29 0 0 49 12 24.5 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.947775629 0.947775629 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 8250552 T A - - - - - - 35 0 0 41 9 22 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 8436787 G T ANGPTL4 CCDS12200.1 r.? - - intronic 12 0 0 41 13 31.7 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 8932119 T A ZNF558 CCDS12208.1 r.? - - intronic 25 0 0 35 12 34.3 28 11 39.3 2 0 0 0 0 NA 6 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.32688588 1.32688588 1 1.750556793 1.750556793 1 NA NA 1 0 0 1 5 NA 1 1 1.83E-19 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 9170504 G A - - - - - - 26 0 0 30 12 40 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.547388781 1.547388781 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 9328604 T A OR7D4 CCDS32901.1 r.? - - upstream 31 0 0 35 7 20 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 9337486 A C - - - - - - 36 0 0 35 11 31.4 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 0.538975501 0.538975501 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 9368824 G T - - - - - - 36 0 0 25 5 20 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000153 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 9430488 G A ZNF559 CCDS12211.1 r.? - - upstream 21 0 0 31 5 16.1 22 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.622823985 0.622823985 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000476 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 9578936 A T ZNF560 CCDS12214.1 r.897u>a c.687T>A p.L229L silent 41 0 0 39 8 20.5 37 9 24.3 110 0 0 98 15 15.3 196 27 13.8 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.082405345 1.082405345 1 0.591876209 0.591876209 1 0.614699332 0.614699332 1 5 6 1 1 2.09E-11 3.78E-18 2.14E-13 3.6E-30 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 19 10325391 C A - - - - - - 16 0 0 33 16 48.5 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.876208897 1.876208897 1 1.300668151 1.300668151 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-28 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 10325392 C T - - - - - - 16 0 0 34 17 50 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.934235977 1.934235977 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-30 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 10404367 C A ICAM5 CCDS12233.1 r.1531-7c>a c.1466-7C>A p.? splice region 32 0 0 39 13 33.3 33 8 24.2 208 0 0 301 76 25.2 2 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.077951002 1.077951002 1 0.974854932 0.974854932 1 0 0 1 5 5 1 1 8.79E-21 1.69E-103 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 10483898 G A TYK2 CCDS12236.1 r.? - - intronic 22 0 0 36 7 19.4 21 2 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.423162584 0.423162584 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 10722115 G A - - - - - - 28 0 0 44 10 22.7 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 10762340 G A ILF3 CCDS45965.1 r.? - - upstream 30 0 0 43 12 27.9 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 11505175 G T RGL3 CCDS32910.1 r.2088c>a c.2036C>A p.A679D missense 23 0 0 25 7 28 35 8 22.9 279 1 0.4 211 53 25.1 34 7 20.6 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.083172147 1.083172147 1 1.020044543 1.020044543 1 0.97098646 0.97098646 1 0.917594655 0.917594655 1 5 6 1 0.753032658 3.47E-11 1.44E-72 8.15E-12 3.73E-10 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 19 12077623 A C ZNF763 CCDS45982.1 r.? - - intronic 38 0 0 34 13 38.2 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.477756286 1.477756286 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 13113318 T C NFIX CCDS45996.1 r.? - - intronic 26 0 0 20 5 25 5 2 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.781737194 1.781737194 1 NA NA 1 NA NA 1 5 NA 1 1 4.55E-08 1 0.000247509 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 13170986 C G NFIX CCDS45996.1 r.? - - intronic 29 0 0 32 5 15.6 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000562 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 13296976 C A - - - - - - 34 0 0 40 8 20 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 13557511 T A CACNA1A CCDS45998.1 r.? - - intronic 20 0 0 30 11 36.7 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.419729207 1.419729207 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 13557617 C A CACNA1A CCDS45998.1 r.? - - intronic 19 0 0 39 17 43.6 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.686653772 1.686653772 1 1.53674833 1.53674833 1 NA NA 1 NA NA 1 5 NA 1 1 3.51E-29 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 14394807 A G - - - - - - 24 0 0 41 10 24.4 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 14409300 A C - - - - - - 28 0 0 47 9 19.1 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.738878143 0.738878143 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-12 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 14617152 G C - - - - - - 29 0 0 32 4 12.5 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 1.287305122 1.287305122 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000201 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 14621029 A T DNAJB1 CCDS12312.1 r.? - - downstream 22 0 0 36 7 19.4 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 14931304 C A - - - - - - 30 0 0 28 11 39.3 21 7 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.520309478 1.520309478 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 8.54E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 15014362 C T - - - - - - 34 0 0 43 12 27.9 26 2 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.34298441 0.34298441 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 15305687 G C NOTCH3 CCDS12326.1 r.? - - intronic 23 0 0 37 15 40.5 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.566731141 1.566731141 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.58E-25 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 15406891 C A - - - - - - 22 0 0 33 6 18.2 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 15448698 T A - - - - - - 26 0 0 32 5 15.6 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 1.398663697 1.398663697 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000562 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 15740300 A T CYP4F8 ENST00000325723 r.1310a>u c.? p.? 3'UTR variant 28 0 0 49 12 24.5 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.947775629 0.947775629 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 15949835 G A - - - - - - 17 0 0 31 5 16.1 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.622823985 0.622823985 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000476 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 16097302 G C - - - - - - 26 0 0 36 5 13.9 39 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.537717602 0.537717602 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000104 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 16098645 G T - - - - - - 17 0 0 43 5 11.6 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.448742747 0.448742747 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000257 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 16169860 G T - - - - - - 29 0 0 40 13 32.5 30 1 3.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 0.146993318 0.146993318 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 16276738 C T CIB3 CCDS12340.1 r.? - - intronic 24 0 0 44 12 27.3 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.581291759 1.581291759 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 16843878 A T NWD1 CCDS32945.1 r.? - - intronic 19 0 0 40 6 15 38 3 7.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.580270793 0.580270793 1 0.351893096 0.351893096 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-08 1 0.000925091 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 17327536 C T MYO9B CCDS46010.1 r.? - - downstream 20 0 0 43 15 34.9 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.350096712 1.350096712 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.05E-24 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 17648352 G A FAM129C CCDS12362.1 r.826g>a c.688G>A p.V230I missense 28 0 0 40 11 27.5 24 9 37.5 227 2 0.9 256 43 16.8 3 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 1.670378619 1.670378619 1 0.649903288 0.649903288 1 0 0 1 5 5 1 0.313886678 9.88E-17 5.64E-51 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 17725414 G T UNC13A CCDS46013.1 r.? - - intronic 20 0 0 23 5 21.7 5 1 20 0 0 NA 0 0 NA 3 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.839458414 0.839458414 1 0.890868597 0.890868597 1 NA NA 1 0 0 1 5 NA 1 1 9.75E-08 1 0.024751247 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 17752116 C A UNC13A CCDS46013.1 r.? - - intronic 22 0 0 26 7 26.9 21 4 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.040618956 1.040618956 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 17752117 C A UNC13A CCDS46013.1 r.? - - intronic 22 0 0 28 7 25 21 4 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 17760453 C A UNC13A CCDS46013.1 r.? - - intronic 31 0 0 31 7 22.6 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 17959675 A G JAK3 CCDS12366.1 r.? - - upstream 24 0 0 42 16 38.1 28 2 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.473887814 1.473887814 1 0.316258352 0.316258352 1 NA NA 1 NA NA 1 5 NA 1 1 2.25E-26 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 18145174 G T - - - - - - 25 0 0 36 9 25 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 18362675 C T PDE4C CCDS12373.1 r.? - - upstream 21 0 0 27 8 29.6 14 3 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.145067698 1.145067698 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 0.0000437 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 18390323 C T JUND CCDS32959.1 r.? - - downstream 32 0 0 32 7 21.9 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.847195358 0.847195358 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 18429868 C T LSM4 CCDS12374.1 r.? - - intronic 29 0 0 38 13 34.2 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 1.425389755 1.425389755 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 18471695 T A PGPEP1 CCDS12375.1 r.? - - intronic 24 0 0 26 5 19.2 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.742746615 0.742746615 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000188 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 18624787 A G ELL CCDS12380.1 r.? - - intronic 26 0 0 39 14 35.9 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.388781431 1.388781431 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 18656904 A T FKBP8 CCDS32961.1 r.? - - upstream 28 0 0 43 11 25.6 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 18930090 G T - - - - - - 34 0 0 40 14 35 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.353965184 1.353965184 1 1.287305122 1.287305122 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-22 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 19023703 C G COPE CCDS12387.1 r.? - - intronic 33 0 0 31 14 45.2 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.748549323 1.748549323 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.49E-24 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 19366534 T C HAPLN4 CCDS12398.1 r.3365a>g c.? p.? 3'UTR variant 14 0 0 29 8 27.6 25 3 12 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 0.534521158 0.534521158 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 19443907 G A KIAA0892 CCDS32969.2 r.? - - intronic 23 0 0 28 6 21.4 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 19699012 C A PBX4 CCDS12406.1 r.? - - intronic 25 0 0 38 15 39.5 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.528046422 1.528046422 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-25 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 19939459 T A ZNF56 ENST00000341262 r.? - - upstream 44 0 0 66 12 18.2 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 0.516703786 0.516703786 1 NA NA 1 NA NA 1 5 NA 1 1 9.36E-16 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 20068729 T A ZNF90 ENST00000427401 r.? - - intronic 40 0 0 33 4 12.1 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.468085106 0.468085106 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000228 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 20278088 C A ZNF90 CCDS46029.1 r.6c>a c.? p.? 5'UTR variant 26 0 0 34 9 26.5 21 8 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 1.697104677 1.697104677 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 7.5E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 20685423 C A - - - - - - 37 0 0 51 9 17.6 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 4.92E-12 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 20911362 G T - - - - - - 41 0 0 35 9 25.7 44 14 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 1.416481069 1.416481069 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 20921773 A T - - - - - - 27 0 0 38 5 13.2 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.510638298 0.510638298 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000137 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 21007030 T A AC010329.1 ENST00000506371 r.? - - downstream 29 0 0 21 7 33.3 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-12 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 21045382 G A - - - - - - 27 0 0 38 10 26.3 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 21219981 C T ZNF430 CCDS32978.1 r.? - - intronic 25 0 0 37 10 27 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 21834396 T G AC092364.2 ENST00000504760 r.? - - intronic 41 0 0 48 14 29.2 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.12959381 1.12959381 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-21 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 22390889 T G ZNF676 CCDS42539.1 r.? - - intronic 34 0 0 53 10 18.9 43 15 34.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 1.554565702 1.554565702 1 NA NA 1 NA NA 1 5 NA 1 1 1.57E-13 1 4.05E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 22397119 T A ZNF676 CCDS42539.1 r.? - - intronic 28 0 0 34 11 32.4 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 22436424 T C - - - - - - 25 0 0 28 10 35.7 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.381044487 1.381044487 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 22457135 G T - - - - - - 29 0 0 28 6 21.4 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 22880205 G A - - - - - - 21 0 0 37 12 32.4 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 23125274 G T - - - - - - 28 0 0 37 8 21.6 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 23227281 C G - - - - - - 32 0 0 38 7 18.4 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 23275691 T C - - - - - - 33 0 0 38 10 26.3 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 23281840 A T - - - - - - 43 0 0 37 9 24.3 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 23366573 T G - - - - - - 18 0 0 29 5 17.2 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.665377176 0.665377176 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000336 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 23694952 G T - - - - - - 22 0 0 43 12 27.9 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.779510022 0.779510022 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 24124670 C A AC011503.1 ENST00000300996 r.? - - intronic 39 0 0 30 7 23.3 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.398663697 1.398663697 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 24171310 C G - - - - - - 23 0 0 32 6 18.8 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 24258550 T A - - - - - - 34 0 0 36 10 27.8 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 24265940 C T ZNF254 CCDS32983.1 r.? - - upstream 41 0 0 48 10 20.8 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.37E-14 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 24419264 T C - - - - - - 34 0 0 42 10 23.8 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 27816024 C T - - - - - - 26 0 0 40 7 17.5 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.676982592 0.676982592 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 28421324 T A - - - - - - 39 0 0 33 10 30.3 36 3 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 28423523 C A - - - - - - 33 0 0 37 7 18.9 44 14 31.8 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 1.416481069 1.416481069 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 28468531 A C - - - - - - 29 0 0 34 11 32.4 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 1.19376392 1.19376392 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 28636363 A C - - - - - - 31 0 0 36 15 41.7 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.613152805 1.613152805 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-25 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 28689596 T A - - - - - - 25 0 0 49 9 18.4 28 1 3.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 0.160356347 0.160356347 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-12 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 28730336 A C - - - - - - 27 0 0 31 11 35.5 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.373307544 1.373307544 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 29168161 A G AC005307.1 ENST00000511462 r.? - - intronic 35 0 0 25 7 28 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.083172147 1.083172147 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 29484500 T C - - - - - - 38 0 0 45 13 28.9 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 7.68E-20 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 29774914 C A - - - - - - 53 0 0 41 8 19.5 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.754352031 0.754352031 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 29982772 C A - - - - - - 21 0 0 38 10 26.3 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 30663215 C G - - - - - - 37 0 0 38 9 23.7 33 14 42.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 1.888641425 1.888641425 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 4.57E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 30958281 C T ZNF536 CCDS32984.1 r.? - - intronic 32 0 0 53 17 32.1 35 15 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.241779497 1.241779497 1 1.91091314 1.91091314 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-26 1 9.02E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 30967183 G A ZNF536 CCDS32984.1 r.? - - intronic 41 0 0 31 7 22.6 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 0.650334076 0.650334076 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 31031981 A T ZNF536 CCDS32984.1 r.? - - intronic 39 0 0 39 8 20.5 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 31085299 A T - - - - - - 24 0 0 38 5 13.2 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.510638298 0.510638298 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000137 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 31110682 G T - - - - - - 20 0 0 40 13 32.5 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 31254614 G T - - - - - - 32 0 0 28 5 17.9 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.572383073 1.572383073 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000279 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 31371807 C G - - - - - - 35 0 0 35 6 17.1 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 31393700 A T - - - - - - 38 0 0 36 7 19.4 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 31413262 A T - - - - - - 33 0 0 36 9 25 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 31530288 T A - - - - - - 31 0 0 32 8 25 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 31581266 G A - - - - - - 40 0 0 43 13 30.2 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.16827853 1.16827853 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-20 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 31679652 A C - - - - - - 23 0 0 27 6 22.2 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 4.23E-09 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 31754652 T C - - - - - - 31 0 0 23 7 30.4 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.176015474 1.176015474 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-11 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 31891127 G T ENSG00000232700 ENST00000441786 r.? - - intronic 33 0 0 51 17 33.3 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 9.59E-27 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 31940039 C A ENSG00000232700 ENST00000441786 r.? - - intronic 24 0 0 37 15 40.5 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.566731141 1.566731141 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 2.58E-25 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 32100467 C T ENSG00000232700 ENST00000441786 r.? - - intronic 26 0 0 41 7 17.1 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 0.579064588 0.579064588 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 32211697 A T - - - - - - 31 0 0 41 11 26.8 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 1.429844098 1.429844098 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 32404613 A C - - - - - - 36 0 0 35 6 17.1 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 32703700 A T - - - - - - 29 0 0 39 10 25.6 39 1 2.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.115812918 0.115812918 1 NA NA 1 NA NA 1 3 NA 1 1 5.44E-15 1 0.177567718 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 32873079 T A ZNF507 CCDS32985.1 r.? - - intronic 31 0 0 46 9 19.6 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 0.712694878 0.712694878 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 33006125 C T - - - - - - 31 0 0 39 10 25.6 38 4 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.467706013 0.467706013 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 33037173 T A - - - - - - 28 0 0 51 10 19.6 40 16 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 1.781737194 1.781737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-13 1 8.56E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 33061010 T C - - - - - - 31 0 0 34 10 29.4 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 33142900 C T ANKRD27 CCDS32986.1 r.? - - intronic 25 0 0 61 16 26.2 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.013539652 1.013539652 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 2.5E-23 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 33228480 G A TDRD12 CCDS46038.1 r.? - - intronic 27 0 0 61 14 23 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.889748549 0.889748549 1 1.523385301 1.523385301 1 NA NA 1 NA NA 1 5 NA 1 1 1.1E-19 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 33569426 A C GPATCH1 CCDS12428.1 r.? - - upstream 46 0 0 46 9 19.6 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 33664146 G A WDR88 CCDS12429.1 r.? - - intronic 20 0 0 30 7 23.3 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 33675320 G T - - - - - - 28 0 0 38 6 15.8 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.611218569 0.611218569 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 34046256 G T - - - - - - 26 0 0 37 10 27 28 6 21.4 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.953229399 0.953229399 1 0 0 1 NA NA 1 5 NA 1 1 3.01E-15 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 34126006 G A CHST8 CCDS12433.1 r.? - - intronic 30 0 0 44 9 20.5 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 34345122 T G - - - - - - 37 0 0 35 7 20 32 6 18.8 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 34413542 G T - - - - - - 24 0 0 43 10 23.3 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 34427486 A C - - - - - - 48 0 0 38 11 28.9 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 34474841 G T - - - - - - 21 0 0 30 7 23.3 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 34699548 T A LSM14A CCDS46040.1 r.? - - intronic 26 0 0 42 10 23.8 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 34984311 C A WTIP ENST00000270288 r.? - - intronic 28 0 0 38 12 31.6 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 1.153674833 1.153674833 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 35056865 T C - - - - - - 38 0 0 35 7 20 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.064587973 1.064587973 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 35267381 T G ZNF599 CCDS32991.1 r.? - - upstream 39 0 0 33 7 21.2 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 0.650334076 0.650334076 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 35550469 G C HPN CCDS32993.1 r.? - - intronic 37 0 0 41 15 36.6 32 12 37.5 258 0 0 375 98 26.1 21 20 95.2 TRUE TRUE 2 3.150439412 1 2 1 1 1 0.849560588 NA 2 NA 2 NA 0.150439412 1.415860735 1.415860735 1 2.101793399 1.050896699 2 1.00967118 1.00967118 1 5.335752842 2.667876421 2 5 4 1 1 1.71E-24 1.34E-134 5.03E-20 1.99E-45 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 35805974 G A MAG CCDS12456.1 r.? - - downstream 28 0 0 37 6 16.2 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 3.150439412 1 2 1 1 1 0.849560588 NA 2 NA 2 NA 0.150439412 0.626692456 0.626692456 1 0.93599866 0.93599866 1 NA NA 0 NA NA 1 5 NA 1 1 3.18E-08 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 36195945 C T - - - - - - 25 0 0 38 11 28.9 37 2 5.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 3.150439412 1 2 1 1 1 0.849560588 NA 2 NA 2 NA 0.150439412 1.117988395 1.117988395 1 0.302658249 0.302658249 1 NA NA 0 NA NA 1 5 NA 1 1 5.19E-17 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 36214093 A G ENSG00000105663 CCDS46055.1 r.2919a>g c.2919A>G p.L973L silent 18 0 0 45 11 24.4 37 5 13.5 171 1 0.6 237 53 22.4 2 1 50 TRUE TRUE 2 3.150439412 1 2 1 1 1 0.849560588 NA 2 NA 2 NA 0.150439412 0.943907157 0.943907157 1 0.756645624 0.756645624 1 0.866537718 0.866537718 1 2.802391198 2.802391198 1 5 4 1 0.575627916 4.24E-16 1.4E-69 0.00000119 0.009975 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 36291709 C A PRODH2 CCDS12478.1 r.? - - intronic 24 0 0 54 10 18.5 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 3.150439412 1 2 1 1 1 0.849560588 NA 2 NA 2 NA 0.150439412 0.715667311 0.715667311 1 0.95841779 0.95841779 1 NA NA 0 NA NA 1 5 NA 1 1 1.91E-13 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 36376041 C T NFKBID CCDS42552.1 r.? - - downstream 35 0 0 33 9 27.3 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 3.150439412 1 2 1 1 1 0.849560588 NA 2 NA 2 NA 0.150439412 1.056092843 1.056092843 1 0.896765183 0.896765183 1 NA NA 0 NA NA 1 5 NA 1 1 6.76E-14 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 36443248 C G - - - - - - 34 0 0 38 15 39.5 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 3.150439412 1 2 1 1 1 0.849560588 NA 2 NA 2 NA 0.150439412 1.528046422 1.528046422 1 1.659015589 1.659015589 1 NA NA 0 NA NA 1 5 NA 1 1 4.24E-25 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 37187024 A G ZNF567 CCDS12495.1 r.? - - intronic 34 0 0 61 13 21.3 52 10 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.137171713 3.150439412 2 2 1 1 0.862828287 0.849560588 3 2 1 2 0.137171713 0.150439412 1.066202101 1.066202101 1 1.07611822 1.07611822 1 NA NA 0 NA NA 1 5 NA 1 1 6.41E-18 1 1.28E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 37656814 T G ZNF585A CCDS12499.1 r.? - - intronic 29 0 0 43 12 27.9 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.137171713 3.150439412 2 2 1 1 0.862828287 0.849560588 3 2 1 2 0.137171713 0.150439412 1.396574583 1.396574583 1 1.771111237 0.957584871 1.849560588 NA NA 0 NA NA 1 5 NA 1 1 3.24E-18 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 38551178 T C SIPA1L3 CCDS33007.1 r.? - - intronic 24 0 0 48 22 45.8 41 13 31.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.137171713 3.150439412 2 2 1 1 0.862828287 0.849560588 3 2 1 2 0.137171713 0.150439412 2.292584799 1.072719045 2.137171713 1.77671602 0.960615203 1.849560588 NA NA 0 NA NA 1 5 NA 1 1 5.76E-38 1 1.89E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 38709741 C A DPF1 CCDS46064.1 r.? - - intronic 31 0 0 41 13 31.7 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.137171713 3.150439412 2 2 1 1 0.862828287 0.849560588 3 2 1 2 0.137171713 0.150439412 1.586789042 0.793394521 2 1.451638641 1.451638641 1 NA NA 0 NA NA 1 5 NA 1 1 1.89E-20 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 38843641 C G CATSPERG CCDS12514.2 r.? - - intronic 19 0 0 24 9 37.5 18 6 33.3 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA 2 NA 1 NA 1 NA 1 NA NA NA NA NA NA NA NA 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 NA NA 1 1 2.39E-15 1 2.75E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 38981809 C A RYR1 CCDS33011.1 r.? - - intronic 23 0 0 37 14 37.8 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.462282398 1.462282398 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-23 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 39676498 G A - - - - - - 19 0 0 30 5 16.7 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 39733363 G C IL28B CCDS12530.1 r.? - - downstream 23 0 0 34 10 29.4 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 0.650334076 0.650334076 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 39910042 G A PLEKHG2 CCDS33022.2 r.? - - intronic 26 0 0 47 12 25.5 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 0.579064588 0.579064588 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 39934763 C T SUPT5H CCDS46072.1 r.? - - upstream 27 0 0 24 8 33.3 29 12 41.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.844097996 1.844097996 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-13 1 1.17E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 40147921 C A - - - - - - 29 0 0 40 10 25 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 40292225 G A - - - - - - 34 0 0 33 10 30.3 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 40421099 T G FCGBP CCDS12546.1 r.2830a>c c.2822A>C p.Q941P missense 29 0 0 35 5 14.3 24 2 8.3 121 0 0 137 28 20.4 3 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.369710468 0.369710468 1 0.789168279 0.789168279 1 0 0 1 5 5 1 1 0.000000895 2.5E-36 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 41073962 C A SPTBN4 CCDS12559.1 r.6832c>a c.6730C>A p.P2244T missense 27 0 0 36 14 38.9 8 2 25 93 0 0 127 29 22.8 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.50483559 1.50483559 1 1.113585746 1.113585746 1 0.882011605 0.882011605 1 NA NA 1 5 NA 1 1 2.09E-23 4.19E-39 0.000686131 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 41512574 C A CYP2B6 CCDS12570.1 r.? - - intronic 20 0 0 41 13 31.7 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 41871409 A C B9D2 CCDS12579.1 r.? - - upstream 32 0 0 39 10 25.6 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 42039458 T C CEACAM21 ENST00000407170 r.? - - upstream 39 0 0 36 11 30.6 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 42162055 C A - - - - - - 29 0 0 43 11 25.6 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.712694878 0.712694878 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 42186225 A C CEACAM7 CCDS12583.1 r.? - - intronic 36 0 0 51 13 25.5 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 4.87E-19 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 42255849 A G CEACAM6 CCDS12585.1 r.? - - upstream 24 0 0 45 10 22.2 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.407572383 1.407572383 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 42308082 C T CEACAM5 CCDS12584.1 r.? - - intronic 18 0 0 37 7 18.9 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 42347458 T G LYPD4 CCDS12587.1 r.? - - intronic 29 0 0 32 8 25 18 3 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 42361202 C A DMRTC2 CCDS33034.1 r.? - - downstream 20 0 0 37 6 16.2 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.626692456 0.626692456 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-08 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 42452597 C A - - - - - - 28 0 0 32 7 21.9 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.847195358 0.847195358 1 0.855233853 0.855233853 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 43041610 T C - - - - - - 16 0 0 40 9 22.5 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.828507795 0.828507795 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 43233077 G T PSG3 CCDS12611.1 r.? - - intronic 24 0 0 33 8 24.2 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 43268762 C T PSG8 CCDS46091.1 r.? - - intronic 39 0 0 42 9 21.4 39 11 28.2 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.256124722 1.256124722 1 0 0 1 NA NA 1 5 NA 1 1 7.51E-13 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 43323913 T G - - - - - - 40 0 0 40 6 15 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.580270793 0.580270793 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-08 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 43378765 T A PSG1 CCDS12612.1 r.? - - intronic 38 0 0 43 13 30.2 35 2 5.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.16827853 1.16827853 1 0.25389755 0.25389755 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-20 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 43442167 G T PSG1 ENST00000449000 r.? - - intronic 30 1 3.3 35 10 28.6 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 0.139615808 1 1.6E-15 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 43547665 C T PSG1 ENST00000449000 r.? - - intronic 27 0 0 43 8 18.6 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 43743830 C T PSG9 ENST00000433626 r.? - - intronic 34 0 0 29 9 31 36 13 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 1.608017817 1.608017817 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 44172707 T C PLAUR CCDS12628.1 r.? - - intronic 26 0 0 23 8 34.8 6 1 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.34622824 1.34622824 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 0.029627491 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 44331423 A G ZNF230 CCDS46097.1 r.? - - upstream 23 0 0 25 9 36 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.392649903 1.392649903 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 44901939 C A ZNF285A CCDS12638.1 r.? - - intronic 38 0 0 29 8 27.6 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 45077252 C T - - - - - - 31 0 0 41 8 19.5 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.754352031 0.754352031 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 45469524 C T CLPTM1 CCDS12651.1 r.? - - intronic 23 0 0 36 7 19.4 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 45740878 G T EXOC3L2 CCDS12657.1 r.? - - upstream 27 0 0 31 9 29 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 0.828507795 0.828507795 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 45816712 G A CKM CCDS12659.1 r.? - - intronic 32 0 0 37 18 48.6 26 13 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.880077369 0.940038685 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 6.16E-32 1 1.2E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 45869321 C T ERCC2 CCDS33049.1 r.? - - intronic 32 0 0 42 12 28.6 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 46236621 C A FBXO46 CCDS46116.1 r.? - - upstream 30 0 0 37 9 24.3 15 3 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 0.0000544 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 46321547 T A SYMPK CCDS12676.2 r.? - - intronic 18 1 5.6 25 13 52 26 12 46.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.011605416 1.005802708 2 2.057906459 1.028953229 2 NA NA 1 NA NA 1 5 NA 0.086275114 1 6E-24 1 2.21E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 46849965 G A HIF3A CCDS42580.1 r.? - - downstream 27 0 0 40 9 22.5 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 47022470 T G ENSG00000230510 ENST00000414155 r.1348a>c c.? p.? 3'UTR variant 23 0 0 36 20 55.6 38 14 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.150870406 1.075435203 2 1.639198218 0.819599109 2 NA NA 1 NA NA 1 5 NA 1 1 6.46E-37 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 48141724 C T GLTSCR1 CCDS46134.1 r.? - - intronic 20 0 0 29 5 17.2 37 6 16.2 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.665377176 0.665377176 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000336 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 48632484 A G LIG1 CCDS12711.1 r.? - - intronic 29 0 0 43 25 58.1 43 17 39.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.247582205 1.123791103 2 1.759465479 0.879732739 2 NA NA 1 NA NA 1 5 NA 1 1 1.66E-46 1 2.84E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 49551999 T A CGB8 CCDS12753.1 r.402a>u c.? p.? 5'UTR variant 36 0 0 45 22 48.9 28 15 53.6 186 0 0 175 77 44 4 2 50 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.891682785 0.945841393 2 2.38752784 1.19376392 2 1.70212766 0.85106383 2 2.227171492 2.227171492 1 5 4 1 1 8.79E-39 3.35E-127 1.07E-27 0.000149002 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 49870353 A T TEAD2 CCDS12761.1 r.? - - upstream 29 0 0 43 24 55.8 35 16 45.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.15860735 1.079303675 2 2.035634744 1.017817372 2 NA NA 1 NA NA 1 5 NA 1 1 4.35E-44 1 5.66E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 50248375 T G TSKS CCDS12780.1 r.? - - intronic 29 0 0 35 9 25.7 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 50877070 C T NR1H2 CCDS42593.1 r.? - - upstream 23 0 0 46 18 39.1 28 11 39.3 0 0 NA 2 2 100 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.512572534 0.756286267 2 1.750556793 0.875278396 2 3.868471954 3.868471954 1 NA NA 1 5 NA 1 1 9.41E-30 0.000025 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 50987365 A G C19orf63 CCDS42594.1 r.? - - downstream 19 0 0 30 14 46.7 27 15 55.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.806576402 0.903288201 2 2.476614699 1.23830735 2 NA NA 1 NA NA 1 5 NA 1 1 8.24E-25 1 5.01E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 51284050 G C - - - - - - 26 0 0 36 20 55.6 30 15 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.150870406 1.075435203 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 6.46E-37 1 4.41E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 51450433 T G KLK5 CCDS12810.1 r.? - - intronic 30 0 0 41 22 53.7 28 15 53.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.077369439 1.03868472 2 2.38752784 1.19376392 2 NA NA 1 NA NA 1 5 NA 1 1 5.33E-40 1 1.07E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 51481149 C A KLK7 CCDS12812.1 r.? - - intronic 33 0 0 38 6 15.8 33 4 12.1 2 0 0 2 1 50 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.611218569 0.611218569 1 0.538975501 0.538975501 1 1.934235977 1.934235977 1 NA NA 1 5 NA 1 1 3.76E-08 0.009975 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 51808040 C G - - - - - - 26 0 0 39 13 33.3 49 13 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 2.71E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 51889182 T A LIM2 CCDS12831.1 r.? - - intronic 17 0 0 43 8 18.6 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 52085241 T A ZNF175 CCDS12837.1 r.? - - intronic 26 0 0 37 9 24.3 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 0.516703786 0.516703786 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 52586552 T C ZNF841 CCDS46161.1 r.? - - intronic 25 0 0 34 15 44.1 41 21 51.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.705996132 0.852998066 2 2.280623608 1.140311804 2 NA NA 1 NA NA 1 5 NA 1 1 5.18E-26 1 1.17E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 54137998 G T DPRXP4 CCDS33103.1 r.? - - intronic 26 0 0 41 23 56.1 33 12 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.170212766 1.085106383 2 1.621380846 0.810690423 2 NA NA 1 NA NA 1 5 NA 1 1 2.21E-42 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 54348378 G T - - - - - - 26 0 0 30 10 33.3 17 4 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 54695517 C G MBOAT7 CCDS12883.1 r.? - - upstream 30 0 0 28 13 46.4 20 7 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.794970986 0.897485493 2 1.559020045 1.559020045 1 NA NA 1 NA NA 1 5 NA 1 1 4.26E-23 1 5.72E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 54740519 G A LILRA6 CCDS42610.1 r.? - - downstream 31 0 0 34 19 55.9 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.162475822 1.081237911 2 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 3.3E-35 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 55089199 T A LILRA2 CCDS46179.1 r.? - - intronic 19 0 0 35 19 54.3 46 27 58.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.100580271 1.050290135 2 2.614699332 1.307349666 2 NA NA 1 NA NA 1 5 NA 1 1 7.18E-35 1 2.82E-50 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 55140244 G T LILRB1 CCDS42617.1 r.? - - intronic 30 0 0 33 16 48.5 34 17 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.876208897 0.938104449 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 1.64E-28 1 1.64E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 55249640 T A KIR3DL3 CCDS12903.1 r.? - - downstream 64 0 0 77 27 35.1 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.357833656 0.678916828 2 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.57E-42 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 55366138 A T KIR3DL2 CCDS12906.1 r.? - - intronic 37 0 0 39 25 64.1 46 20 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.479690522 1.239845261 2 1.937639198 0.968819599 2 NA NA 1 NA NA 1 5 NA 1 1 4.2E-48 1 4.72E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 55470629 T A NLRP7 CCDS12912.1 r.? - - intronic 26 0 0 40 18 45 30 21 70 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.740812379 0.87040619 2 3.118040089 1.559020045 2 NA NA 1 NA NA 1 5 NA 1 1 3.9E-31 1 6.53E-42 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 56160019 G C CCDC106 CCDS33118.1 r.? - - intronic 31 0 0 41 10 24.4 18 5 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 56483828 A T NLRP8 CCDS12937.1 r.? - - intronic 26 0 0 29 12 41.4 23 1 4.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.601547389 0.800773694 2 0.191536748 0.191536748 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 56608216 T A ZNF787 ENST00000270459 r.? - - intronic 27 0 0 31 19 61.3 32 13 40.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.371373308 1.185686654 2 1.808463252 0.904231626 2 NA NA 1 NA NA 1 5 NA 1 1 2.54E-36 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 56709232 G A ZSCAN5B CCDS46203.1 r.? - - upstream 33 0 0 35 13 37.1 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.435203095 1.435203095 1 1.153674833 1.153674833 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 56855246 T G ZSCAN5A CCDS12941.1 r.? - - intronic 34 0 0 33 6 18.2 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 57343988 C A PEG3AS CCDS12948.1 r.? - - intronic 19 0 0 43 12 27.9 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 57873253 G A ZNF304 CCDS12950.1 r.? - - downstream 28 0 0 47 10 21.3 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.823984526 0.823984526 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 58004744 C A ZNF419 CCDS42637.1 r.933c>a c.723C>A p.H241Q missense 30 0 0 40 19 47.5 33 7 21.2 154 0 0 74 40 54.1 67 23 34.3 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.837524178 0.918762089 2 0.944320713 0.944320713 1 2.092843327 1.046421663 2 1.527839644 0.763919822 2 5 6 1 1 2.27E-33 1.06E-71 2.98E-10 5.12E-36 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 19 58248771 C G - - - - - - 26 0 0 35 19 54.3 32 13 40.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.100580271 1.050290135 2 1.808463252 0.904231626 2 NA NA 1 NA NA 1 5 NA 1 1 7.18E-35 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 58843051 C T ZSCAN22 CCDS12975.1 r.? - - intronic 17 0 0 45 10 22.2 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.302800774 1.302800774 1 1.568405345 1.568405345 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 58877973 G A ZNF497 CCDS12977.1 r.? - - upstream 24 0 0 65 14 21.5 54 10 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.26172147 1.26172147 1 1.194053452 1.194053452 1 NA NA 1 NA NA 1 5 NA 1 1 2.93E-19 1 1.91E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 58885364 G T ZNF837 CCDS46216.1 r.? - - intronic 21 0 0 60 10 16.7 52 10 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.980034816 0.980034816 1 1.239233853 1.239233853 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-13 1 1.28E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 59026241 G A SLC27A5 CCDS12983.1 r.? - - upstream 30 0 0 56 9 16.1 37 3 8.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.944823985 0.944823985 1 0.522801782 0.522801782 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-11 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 59082365 C G MZF1 CCDS12988.1 r.953g>c c.392G>C p.R131T missense 33 0 0 66 13 19.7 37 3 8.1 163 0 0 415 53 12.8 13 0 0 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.156088975 1.156088975 1 0.522801782 0.522801782 1 0.75116441 0.75116441 1 0 0 1 5 5 1 1 1.95E-17 7.78E-56 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 268572 G A ACP1 CCDS1640.1 r.? - - intronic 27 0 0 55 12 21.8 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.061326886 1.061326886 1 1.118140312 1.118140312 1 NA NA 1 NA NA 1 5 NA 1 1 8.78E-17 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 448006 A G - - - - - - 33 0 0 52 11 21.2 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.032116054 1.032116054 1 1.396311804 1.396311804 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-15 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 574638 A G - - - - - - 36 0 0 58 8 13.8 47 7 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.67184913 0.67184913 1 0.812697105 0.812697105 1 NA NA 1 NA NA 1 5 NA 1 1 5.99E-10 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 748239 C G - - - - - - 25 0 0 63 16 25.4 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.236591876 1.236591876 1 1.058142539 1.058142539 1 NA NA 1 NA NA 1 5 NA 1 1 4.48E-23 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 1145789 T A SNTG2 CCDS46220.1 r.? - - intronic 25 0 0 48 10 20.8 22 4 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.012642166 1.012642166 1 0.992690423 0.992690423 1 NA NA 1 NA NA 1 5 NA 1 1 5.37E-14 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 1231082 C T SNTG2 CCDS46220.1 r.? - - intronic 25 0 0 49 7 14.3 57 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.58E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 1283514 C G SNTG2 CCDS46220.1 r.? - - intronic 38 0 0 42 9 21.4 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.041852998 1.041852998 1 1.210864143 1.210864143 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 1378212 C T - - - - - - 36 0 0 53 32 60.4 50 23 46 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 2.94055706 0.980185687 3 2.508997773 0.836332591 3 NA NA 1 NA NA 1 5 NA 1 1 6.69E-60 1 1.13E-39 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 1379800 T A - - - - - - 26 0 0 51 9 17.6 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.856851064 0.856851064 1 0.801788419 0.801788419 1 NA NA 1 NA NA 1 5 NA 1 1 4.92E-12 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 1417317 G C TPO CCDS1643.1 r.82g>c c.? p.? 5'UTR variant 39 0 0 57 8 14 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.681586074 0.681586074 1 1.249044543 1.249044543 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-10 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 1479997 C G TPO CCDS1643.1 r.? - - intronic 40 0 0 57 10 17.5 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.851982592 0.851982592 1 1.330859688 1.330859688 1 NA NA 1 NA NA 1 5 NA 1 1 3.4E-13 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 1975013 T A MYT1L CCDS46222.1 r.? - - intronic 41 0 0 52 18 34.6 36 15 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.684491296 0.842245648 2 2.274461024 1.137230512 2 NA NA 1 NA NA 1 5 NA 1 1 1.39E-28 1 1.54E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 2160334 A G MYT1L CCDS46222.1 r.? - - intronic 38 0 0 44 14 31.8 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.548174081 0.774087041 2 1.069051225 1.069051225 1 NA NA 1 NA NA 1 5 NA 1 1 6.1E-22 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 2614436 G T - - - - - - 41 0 0 54 9 16.7 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.813034816 0.813034816 1 0.83996882 0.83996882 1 NA NA 1 NA NA 1 5 NA 1 1 8.48E-12 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 2820927 G T - - - - - - 27 0 0 50 11 22 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.07106383 1.07106383 1 0.758153675 0.758153675 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 2966358 C A - - - - - - 29 0 0 55 32 58.2 36 21 58.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 2.833450677 0.944483559 3 3.17988196 1.059960653 3 NA NA 1 NA NA 1 5 NA 1 1 3.89E-59 1 2.47E-39 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 2966464 C A - - - - - - 23 0 0 44 27 61.4 43 27 62.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 2.989241779 0.996413926 3 3.425327394 1.141775798 3 NA NA 1 NA NA 1 5 NA 1 1 4.71E-51 1 1.83E-51 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 2975641 C A - - - - - - 33 0 0 49 24 49 45 14 31.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 2.385551257 1.192775629 2 1.696300668 0.848150334 2 NA NA 1 NA NA 1 5 NA 1 1 3.34E-42 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 3142531 G A - - - - - - 19 0 0 50 30 60 39 22 56.4 1 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 2.921083172 0.973694391 3 3.076249443 1.025416481 3 NA NA 1 NA NA 1 5 NA 1 1 3.98E-56 1 1.12E-40 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 3788884 C T ENSG00000214866 ENST00000423741 r.? - - intronic 41 0 0 46 12 26.1 35 13 37.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.27067118 1.27067118 1 2.023561247 1.011780624 2 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 1.63E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 3880335 T A - - - - - - 25 0 0 53 29 54.7 46 25 54.3 0 0 NA 2 2 100 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 2.663054159 0.88768472 3 2.961708241 0.98723608 3 4.868471954 1.622823985 3 NA NA 1 5 NA 1 1 1.29E-52 0.000025 1.87E-45 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 3945278 G C - - - - - - 31 0 0 56 7 12.5 51 9 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.608558994 0.608558994 1 0.959964365 0.959964365 1 NA NA 1 NA NA 1 5 NA 1 1 1.46E-08 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 4572003 G A ENSG00000228584 ENST00000446457 r.? - - intronic 30 0 0 43 14 32.6 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.587121857 0.793560928 2 1.118140312 1.118140312 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 4797933 T C - - - - - - 24 0 0 53 10 18.9 57 9 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.920141199 0.920141199 1 0.861786192 0.861786192 1 NA NA 1 NA NA 1 5 NA 1 1 1.57E-13 1 1.42E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 5184852 A G - - - - - - 28 0 0 59 15 25.4 50 12 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.236591876 1.236591876 1 1.309042316 1.309042316 1 NA NA 1 NA NA 1 5 NA 1 1 9.9E-22 1 2.49E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 5434063 C T - - - - - - 33 0 0 50 8 16 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.778955513 0.778955513 1 1.330859688 1.330859688 1 NA NA 1 NA NA 1 5 NA 1 1 1.74E-10 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 5474159 C A - - - - - - 32 0 0 59 23 39 42 15 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.898704062 0.949352031 2 1.947200445 0.973600223 2 NA NA 1 NA NA 1 5 NA 1 1 1.45E-37 1 2.65E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 5546368 G C - - - - - - 30 0 0 67 9 13.4 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.652375242 0.652375242 1 0.867240535 0.867240535 1 NA NA 1 NA NA 1 5 NA 1 1 6.43E-11 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 5720642 C T - - - - - - 34 0 0 53 8 15.1 59 11 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.735139265 0.735139265 1 1.014507795 1.014507795 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-10 1 1.1E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 6093904 G A - - - - - - 34 0 0 48 7 14.6 44 4 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.710796905 0.710796905 1 0.496345212 0.496345212 1 NA NA 1 NA NA 1 5 NA 1 1 4.81E-09 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 6239336 G C - - - - - - 28 0 0 52 10 19.2 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.934746615 0.934746615 1 1.04177951 1.04177951 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-13 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 6550690 G T - - - - - - 42 0 0 57 15 26.3 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.280408124 1.280408124 1 0.736336303 0.736336303 1 NA NA 1 NA NA 1 5 NA 1 1 5.53E-22 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 6879833 T A - - - - - - 28 0 0 57 27 47.4 38 19 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 2.307655706 1.153827853 2 2.727171492 0.909057164 3 NA NA 1 NA NA 1 5 NA 1 1 9.04E-47 1 6.16E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 7218141 C T ENSG00000234603 ENST00000441133 r.? - - intronic 42 0 0 50 12 24 26 3 11.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.168433269 1.168433269 1 0.627249443 0.627249443 1 NA NA 1 NA NA 1 5 NA 1 1 2.49E-17 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 7426613 T A ENSG00000234603 ENST00000441133 r.? - - intronic 25 0 0 50 31 62 58 31 53.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 3.018452611 1.00615087 3 2.912619154 0.970873051 3 NA NA 1 NA NA 1 5 NA 1 1 1.29E-58 1 1.07E-55 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 7957163 G T - - - - - - 35 0 0 46 6 13 41 3 7.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.632901354 0.632901354 1 0.398167038 0.398167038 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 8417932 A G - - - - - - 35 0 0 53 13 24.5 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.192775629 1.192775629 1 0.725427617 0.725427617 1 NA NA 1 NA NA 1 5 NA 1 1 8.53E-19 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 8477199 A T - - - - - - 41 0 0 63 6 9.5 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.462504836 0.462504836 1 1.167229399 1.167229399 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000832 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 9100953 G A MBOAT2 CCDS1660.1 r.? - - intronic 38 0 0 35 6 17.1 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.832508704 0.832508704 1 1.069051225 1.069051225 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 9123707 G C MBOAT2 CCDS1660.1 r.? - - intronic 45 0 0 61 10 16.4 59 14 23.7 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.7984294 0.7984294 1 1.292679287 1.292679287 1 NA NA 1 0 0 1 5 NA 1 1 6.98E-13 1 6.58E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 9423369 A T ASAP2 CCDS1661.1 r.? - - intronic 23 0 0 56 7 12.5 48 12 25 2 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.608558994 0.608558994 1 1.363585746 1.363585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.46E-08 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 9450659 C G ASAP2 CCDS1661.1 r.? - - intronic 32 0 0 52 18 34.6 49 20 40.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.684491296 0.842245648 2 2.225371938 1.112685969 2 NA NA 1 NA NA 1 5 NA 1 1 1.39E-28 1 2.35E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 9741850 T C YWHAQ CCDS1666.1 r.? - - intronic 29 0 0 44 6 13.6 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.662112186 0.662112186 1 1.499944321 1.499944321 1 NA NA 1 NA NA 1 5 NA 1 1 9.37E-08 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 9831220 A T - - - - - - 40 0 0 64 42 65.6 41 23 56.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 3.193717602 1.064572534 3 3.059886414 1.019962138 3 NA NA 1 NA NA 1 5 NA 1 1 1.64E-80 1 2.21E-42 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 9858698 G T - - - - - - 15 0 0 52 13 25 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.118140312 1.118140312 1 NA NA 1 NA NA 1 5 NA 1 1 6.47E-19 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 10112155 G A GRHL1 CCDS33144.1 r.? - - intronic 22 0 0 55 12 21.8 67 10 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.061326886 1.061326886 1 0.812697105 0.812697105 1 NA NA 1 NA NA 1 5 NA 1 1 8.78E-17 1 1.87E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 10396711 T A - - - - - - 26 0 0 42 9 21.4 38 7 18.4 1 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.041852998 1.041852998 1 1.003599109 1.003599109 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 10837078 G T - - - - - - 20 0 0 49 7 14.3 41 3 7.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 0.398167038 0.398167038 1 NA NA 1 NA NA 1 5 NA 1 1 5.58E-09 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 11342974 T C ROCK2 CCDS42654.1 r.? - - intronic 35 0 0 58 13 22.4 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 1.090537718 1.090537718 1 0.867240535 0.867240535 1 NA NA 1 NA NA 1 5 NA 1 1 3.12E-18 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 11997491 A C - - - - - - 34 0 0 46 28 60.9 43 21 48.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 2.96489942 0.988299807 3 2.661719376 0.887239792 3 NA NA 1 NA NA 1 5 NA 1 1 9.63E-53 1 4.52E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 12078552 T A - - - - - - 15 0 0 57 11 19.3 51 5 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.132615087 1.132615087 1 0.632525612 0.632525612 1 NA NA 1 NA NA 1 5 NA 1 1 7.29E-15 1 0.00000606 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 12098603 C A - - - - - - 29 0 0 69 10 14.5 52 8 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.850928433 0.850928433 1 0.99396882 0.99396882 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-12 1 2.42E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 12129259 G T - - - - - - 37 0 0 71 14 19.7 47 6 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.156088975 1.156088975 1 0.826155902 0.826155902 1 NA NA 1 NA NA 1 5 NA 1 1 1.13E-18 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 12210232 C A - - - - - - 25 0 0 59 9 15.3 68 14 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.897876209 0.897876209 1 1.329594655 1.329594655 1 NA NA 1 NA NA 1 5 NA 1 1 1.96E-11 1 5.84E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 12235693 C T - - - - - - 38 0 0 64 14 21.9 77 10 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.285195358 1.285195358 1 0.839064588 0.839064588 1 NA NA 1 NA NA 1 5 NA 1 1 2.31E-19 1 7.9E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 12355784 A G - - - - - - 30 0 0 59 8 13.6 55 11 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.798112186 0.798112186 1 1.290868597 1.290868597 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-10 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 12747863 C A - - - - - - 36 0 0 55 10 18.2 90 10 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.068061896 1.068061896 1 0.716432071 0.716432071 1 NA NA 1 NA NA 1 5 NA 1 1 2.33E-13 1 3.88E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 13113825 C A - - - - - - 26 0 0 89 14 15.7 53 6 11.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.921350097 0.921350097 1 0.729340757 0.729340757 1 NA NA 1 NA NA 1 5 NA 1 1 3.28E-17 1 0.000000293 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 13167141 A T - - - - - - 24 0 0 67 6 9 64 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.528162476 0.528162476 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000012 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 13215490 C A - - - - - - 31 0 0 51 11 21.6 41 14 34.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.267589942 1.267589942 1 2.200930958 1.100465479 2 NA NA 1 NA NA 1 5 NA 1 1 1.94E-15 1 1.9E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 13299420 C A - - - - - - 45 0 0 75 6 8 53 1 1.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.469477756 0.469477756 1 0.122632517 0.122632517 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000234 1 0.233303855 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 13564773 G T - - - - - - 25 0 0 57 15 26.3 58 12 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.543408124 0.771704062 2 1.336048998 1.336048998 1 NA NA 1 NA NA 1 5 NA 1 1 5.53E-22 1 1.76E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 13854051 C T - - - - - - 32 0 0 60 17 28.3 62 6 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.660777563 0.830388781 2 0.626071269 0.626071269 1 NA NA 1 NA NA 1 5 NA 1 1 2.41E-25 1 0.000000756 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 13886117 T G - - - - - - 34 0 0 59 18 30.5 65 18 27.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.789883946 0.894941973 2 1.787853007 0.893926503 2 NA NA 1 NA NA 1 5 NA 1 1 2.03E-27 1 1.52E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 13908483 G T - - - - - - 33 0 0 46 26 56.5 63 37 58.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 3.315686654 1.105228885 3 3.788699332 1.262899777 3 NA NA 1 NA NA 1 5 NA 1 1 7.59E-48 1 2.29E-68 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 13936227 G C - - - - - - 43 0 0 72 8 11.1 63 5 7.9 0 0 NA 0 0 NA 1 1 100 TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.651400387 0.651400387 1 0.509893096 0.509893096 1 NA NA 1 6.454342984 6.454342984 1 5 NA 1 1 3.52E-09 1 0.0000173 0.005 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 14180095 T A - - - - - - 32 0 0 70 11 15.7 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.921350097 0.921350097 1 1.052057906 1.052057906 1 NA NA 1 NA NA 1 5 NA 1 1 8.06E-14 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 14200484 C G - - - - - - 34 0 0 80 22 27.5 60 13 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.613829787 0.806914894 2 1.400592428 1.400592428 1 NA NA 1 NA NA 1 5 NA 1 1 4.89E-32 1 5.07E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 14573713 G A - - - - - - 36 0 0 61 12 19.7 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.156088975 1.156088975 1 1.187599109 1.187599109 1 NA NA 1 NA NA 1 5 NA 1 1 3.39E-16 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 14854559 G A - - - - - - 36 0 0 82 33 40.2 61 18 29.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 2.359125725 1.179562863 2 1.90403118 0.95201559 2 NA NA 1 NA NA 1 5 NA 1 1 8.26E-54 1 4.08E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 14870064 C T - - - - - - 28 0 0 58 27 46.6 44 20 45.5 2 0 0 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 2.73470793 0.91156931 3 2.936726058 0.978908686 3 NA NA 1 NA NA 1 5 NA 1 1 1.68E-46 1 1.5E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 14971374 C G - - - - - - 33 0 0 54 11 20.4 53 9 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.197168279 1.197168279 1 1.097238307 1.097238307 1 NA NA 1 NA NA 1 5 NA 1 1 3.84E-15 1 7.1E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 15823171 C T - - - - - - 19 0 0 56 6 10.7 69 2 2.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.627926499 0.627926499 1 0.187175947 0.187175947 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000409 1 0.04704084 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 15826621 T G - - - - - - 28 0 0 58 9 15.5 54 6 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.909613153 0.909613153 1 0.716432071 0.716432071 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 0.000000329 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 15833729 G C - - - - - - 39 0 0 61 12 19.7 49 10 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.156088975 1.156088975 1 1.316685969 1.316685969 1 NA NA 1 NA NA 1 5 NA 1 1 3.39E-16 1 6.72E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 15877709 A T ENSG00000231031 ENST00000436967 r.? - - intronic 34 0 0 43 28 65.1 49 24 49 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 3.820375242 1.273458414 3 3.162628062 1.054209354 3 NA NA 1 NA NA 1 5 NA 1 1 5.25E-54 1 3.34E-42 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 16521832 C G - - - - - - 41 0 0 69 20 29 48 9 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.701856867 0.850928433 2 1.213416481 1.213416481 1 NA NA 1 NA NA 1 5 NA 1 1 8.73E-30 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 16644137 T C - - - - - - 40 0 0 63 20 31.7 49 22 44.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.860305609 0.930152805 2 2.898 0.966 3 NA NA 1 NA NA 1 5 NA 1 1 1.05E-30 1 1.04E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 18079898 C A KCNS3 CCDS1692.1 r.? - - intronic 32 0 0 71 15 21.1 56 15 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.238247582 1.238247582 1 1.72976392 0.86488196 2 NA NA 1 NA NA 1 5 NA 1 1 2.15E-20 1 4.09E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 18156097 G C - - - - - - 30 0 0 50 11 22 61 6 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.29106383 1.29106383 1 0.632525612 0.632525612 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 0.000000685 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 18225261 T A - - - - - - 32 0 0 68 8 11.8 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.692479691 0.692479691 1 1.23277951 1.23277951 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-09 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 18367673 A G - - - - - - 34 0 0 65 7 10.8 62 18 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.633794971 0.633794971 1 1.871759465 0.935879733 2 NA NA 1 NA NA 1 5 NA 1 1 4.22E-08 1 5.72E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 18926926 T A - - - - - - 39 0 0 59 14 23.7 55 2 3.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.390827853 1.390827853 1 0.232356347 0.232356347 1 NA NA 1 NA NA 1 5 NA 1 1 6.58E-20 1 0.031164417 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 19162118 A C - - - - - - 31 0 0 67 30 44.8 45 18 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 2.629075435 0.876358478 3 2.581737194 0.860579065 3 NA NA 1 NA NA 1 5 NA 1 1 7.78E-51 1 5.76E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 19287387 G T - - - - - - 32 0 0 64 13 20.3 49 5 10.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.191299807 1.191299807 1 0.658342984 0.658342984 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 0.00000496 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 19748128 G A - - - - - - 38 0 0 58 10 17.2 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.009377176 1.009377176 1 1.542587973 1.542587973 1 NA NA 1 NA NA 1 5 NA 1 1 4.1E-13 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 20292747 C G - - - - - - 35 0 0 63 6 9.5 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.557504836 0.557504836 1 1.161781737 1.161781737 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000832 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 20409652 G T SDC1 CCDS1697.1 r.? - - intronic 31 0 0 80 43 53.8 46 22 47.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 3.157237911 1.052412637 3 3.085175947 1.028391982 3 NA NA 1 NA NA 1 5 NA 1 1 8.16E-77 1 1.68E-38 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 20710811 C A - - - - - - 32 0 0 55 27 49.1 55 28 50.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 2.881419729 0.960473243 3 3.285260579 1.09508686 3 NA NA 1 NA NA 1 5 NA 1 1 2.49E-47 1 1.25E-49 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 20729829 A T - - - - - - 33 0 0 46 25 54.3 43 23 53.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 3.186580271 1.062193424 3 3.453073497 1.151024499 3 NA NA 1 NA NA 1 5 NA 1 1 1.87E-45 1 1.04E-41 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 21207857 A T - - - - - - 30 0 0 54 11 20.4 49 9 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.197168279 1.197168279 1 1.187599109 1.187599109 1 NA NA 1 NA NA 1 5 NA 1 1 3.84E-15 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 21207858 G T - - - - - - 31 0 0 58 11 19 51 9 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.115009671 1.115009671 1 1.135964365 1.135964365 1 NA NA 1 NA NA 1 5 NA 1 1 8.96E-15 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 21244485 G T APOB CCDS1703.1 r.? - - intronic 20 0 0 68 19 27.9 67 9 13.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.637303675 0.818651838 2 0.86488196 0.86488196 1 NA NA 1 NA NA 1 5 NA 1 1 5.06E-28 1 6.43E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 21879152 C A - - - - - - 39 0 0 71 14 19.7 50 4 8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.156088975 1.156088975 1 0.516347439 0.516347439 1 NA NA 1 NA NA 1 5 NA 1 1 1.13E-18 1 0.000119787 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 22214221 T C - - - - - - 33 0 0 53 11 20.8 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.220642166 1.220642166 1 1.097238307 1.097238307 1 NA NA 1 NA NA 1 5 NA 1 1 3.07E-15 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 22215977 C A - - - - - - 32 0 0 57 25 43.9 57 30 52.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 2.576259188 0.858753063 3 3.39498441 1.13166147 3 NA NA 1 NA NA 1 5 NA 1 1 2.54E-42 1 1.15E-53 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 22366207 C A - - - - - - 31 0 0 63 12 19 44 4 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.115009671 1.115009671 1 0.587345212 0.587345212 1 NA NA 1 NA NA 1 5 NA 1 1 5.15E-16 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 22617075 C T - - - - - - 50 0 0 57 8 14 60 13 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.821586074 0.821586074 1 1.400592428 1.400592428 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-10 1 5.07E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 22648645 C T - - - - - - 33 0 0 60 33 55 51 25 49 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 3.227659574 1.075886525 3 3.162628062 1.054209354 3 NA NA 1 NA NA 1 5 NA 1 1 8.98E-60 1 6.52E-44 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 22737393 G T - - - - - - 33 0 0 58 21 36.2 50 13 26 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 2.124386847 1.062193424 2 1.678129176 0.839064588 2 NA NA 1 NA NA 1 5 NA 1 1 1.34E-33 1 3.65E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 22823446 C A - - - - - - 41 0 0 52 6 11.5 53 8 15.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.674874275 0.674874275 1 0.974605791 0.974605791 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000261 1 2.83E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 23000790 G T - - - - - - 28 0 0 45 6 13.3 50 12 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.78050677 0.78050677 1 1.549042316 1.549042316 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000108 1 2.49E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 23113442 T C - - - - - - 29 0 0 49 5 10.2 53 8 15.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.598584139 0.598584139 1 0.974605791 0.974605791 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000496 1 2.83E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 23136266 C T - - - - - - 37 0 0 57 28 49.1 54 26 48.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 2.881419729 0.960473243 3 3.104538976 1.034846325 3 NA NA 1 NA NA 1 5 NA 1 1 4.87E-49 1 2.44E-45 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 23192857 G A - - - - - - 41 0 0 67 11 16.4 62 10 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.9624294 0.9624294 1 1.03914922 1.03914922 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-14 1 8.29E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 23230184 T G - - - - - - 38 0 0 64 11 17.2 55 7 12.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.009377176 1.009377176 1 0.819701559 0.819701559 1 NA NA 1 NA NA 1 5 NA 1 1 2.85E-14 1 1.28E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 23268813 A T - - - - - - 29 0 0 56 12 21.4 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.255852998 1.255852998 1 0.871336303 0.871336303 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-16 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 23441734 T A - - - - - - 29 0 0 59 17 28.8 66 23 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.690119923 0.845059961 2 2.246111359 1.123055679 2 NA NA 1 NA NA 1 5 NA 1 1 1.74E-25 1 3.38E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 23483162 T G - - - - - - 31 0 0 61 10 16.4 51 4 7.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.9624294 0.9624294 1 0.503438753 0.503438753 1 NA NA 1 NA NA 1 5 NA 1 1 6.98E-13 1 0.000129466 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 23733039 G C KLHL29 ENST00000486442 r.? - - intronic 25 0 0 67 31 46.3 53 24 45.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 2.717102515 0.905700838 3 2.923817372 0.974605791 3 NA NA 1 NA NA 1 5 NA 1 1 4.66E-53 1 4.04E-41 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 23811896 A T KLHL29 ENST00000486442 r.? - - intronic 34 0 0 53 18 34 54 23 42.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.995280464 0.997640232 2 2.749550111 0.916516704 3 NA NA 1 NA NA 1 5 NA 1 1 2.09E-28 1 1.12E-38 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 23854496 C A KLHL29 ENST00000486442 r.? - - intronic 28 0 0 56 15 26.8 55 12 21.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.572750484 0.786375242 2 1.407046771 1.407046771 1 NA NA 1 NA NA 1 5 NA 1 1 4.09E-22 1 8.78E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 23888769 G T KLHL29 ENST00000486442 r.? - - intronic 30 0 0 48 9 18.8 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.103272727 1.103272727 1 1.290868597 1.290868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 24534751 G T ITSN2 CCDS1710.2 r.? - - intronic 40 0 0 55 9 16.4 64 16 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.9624294 0.9624294 1 1.613585746 0.806792873 2 NA NA 1 NA NA 1 5 NA 1 1 1.01E-11 1 5.94E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 24589636 G A - - - - - - 41 0 0 70 15 21.4 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.255852998 1.255852998 1 0.787429844 0.787429844 1 NA NA 1 NA NA 1 5 NA 1 1 1.7E-20 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 24648614 G A - - - - - - 36 0 0 57 9 15.8 55 12 21.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.927218569 0.927218569 1 1.407046771 1.407046771 1 NA NA 1 NA NA 1 5 NA 1 1 1.42E-11 1 8.78E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 24656510 C T - - - - - - 34 0 0 64 7 10.9 67 11 16.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.639663443 0.639663443 1 1.058512249 1.058512249 1 NA NA 1 NA NA 1 5 NA 1 1 3.78E-08 1 4.85E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 24797102 T A NCOA1 CCDS1713.1 r.? - - intronic 47 0 0 82 14 17.1 63 10 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.003508704 1.003508704 1 1.026240535 1.026240535 1 NA NA 1 NA NA 1 5 NA 1 1 9.77E-18 1 9.81E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 24847628 G C NCOA1 CCDS1713.1 r.? - - intronic 40 0 0 77 41 53.2 59 28 47.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 3.122027079 1.040675693 3 3.065812918 1.021937639 3 NA NA 1 NA NA 1 5 NA 1 1 4.45E-73 1 1.77E-48 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 25625249 A G DTNB CCDS46237.1 r.? - - intronic 32 0 0 53 17 32.1 56 24 42.9 2 0 0 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.883779497 0.941889749 2 2.76891314 0.922971047 3 NA NA 1 NA NA 1 5 NA 1 1 2.08E-26 1 2.23E-40 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 25922577 G T - - - - - - 30 0 0 60 7 11.7 54 8 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.686611219 0.686611219 1 0.955242762 0.955242762 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-08 1 3.31E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 25983012 T G ASXL2 ENST00000435504 r.? - - intronic 31 0 0 62 10 16.1 62 6 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.944823985 0.944823985 1 0.626071269 0.626071269 1 NA NA 1 NA NA 1 5 NA 1 1 8.29E-13 1 0.000000756 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 26371323 G T - - - - - - 18 0 0 41 11 26.8 52 9 17.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.572750484 1.572750484 1 1.116601336 1.116601336 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 26470141 A G HADHA CCDS1721.1 r.? - - upstream 34 0 0 74 29 39.2 63 20 31.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 2.300441006 1.150220503 2 2.046026726 1.023013363 2 NA NA 1 NA NA 1 5 NA 1 1 4.68E-47 1 1.05E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 26480846 C T HADHB CCDS1722.1 r.? - - intronic 31 0 0 61 23 37.7 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 2.212413926 1.106206963 2 2.09766147 1.048830735 2 NA NA 1 NA NA 1 5 NA 1 1 3.73E-37 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 26674321 A T C2orf39 CCDS1723.1 r.? - - intronic 40 0 0 60 38 63.3 58 32 55.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 3.714742747 1.238247582 3 3.562797327 1.187599109 3 NA NA 1 NA NA 1 5 NA 1 1 4.62E-72 1 4.55E-58 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 26805092 C T CIB4 CCDS33160.1 r.? - - intronic 31 0 0 71 13 18.3 39 2 5.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 1.073930368 1.073930368 1 0.329171492 0.329171492 1 NA NA 1 NA NA 1 5 NA 1 1 5.42E-17 1 0.016387522 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 26849152 C G CIB4 CCDS33160.1 r.? - - intronic 24 0 0 64 32 50 65 30 46.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 2.934235977 0.978078659 3 2.981906459 0.99396882 3 NA NA 1 NA NA 1 5 NA 1 1 3.65E-56 1 2.36E-51 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 26876075 C G - - - - - - 35 0 0 50 7 14 55 12 21.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.821586074 0.821586074 1 1.407046771 1.407046771 1 NA NA 1 NA NA 1 5 NA 1 1 6.46E-09 1 8.78E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 27560412 G A GTF3C2 CCDS1749.1 r.1394c>u c.964C>T p.H322Y missense 32 0 0 56 7 12.5 43 13 30.2 191 0 0 137 26 19 26 22 84.6 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.608558994 0.608558994 1 1.647211581 0.823605791 2 0.925009671 0.925009671 1 4.614374165 2.307187082 2 5 4 1 1 1.46E-08 6.15E-33 3.88E-20 3.5E-47 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 2 27816700 G C ZNF512 CCDS1758.1 r.? - - intronic 35 0 0 50 11 22 59 14 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.07106383 1.07106383 1 1.292679287 1.292679287 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 6.58E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 27926795 A T ENSG00000205334 ENST00000379677 r.? - - downstream 29 0 0 60 15 25 45 10 22.2 0 0 NA 2 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.210864143 1.210864143 1 0 0 1 NA NA 1 5 NA 1 1 1.31E-21 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 28188575 A T BRE CCDS1764.1 r.? - - intronic 48 0 0 37 7 18.9 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.920141199 0.920141199 1 1.40722049 1.40722049 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 28276646 G A BRE CCDS1764.1 r.? - - intronic 29 0 0 59 25 42.4 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.064232108 1.032116054 2 1.559942094 1.559942094 1 NA NA 1 NA NA 1 5 NA 1 1 7.66E-42 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 28714876 A G PLB1 CCDS33168.1 r.? - - upstream 28 0 0 38 8 21.1 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.027247582 1.027247582 1 1.167229399 1.167229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 28759669 G A PLB1 CCDS33168.1 r.? - - intronic 28 0 0 54 19 35.2 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.713702128 0.856851064 2 1.559942094 1.559942094 1 NA NA 1 NA NA 1 5 NA 1 1 2.97E-30 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 28985725 A G PPP1CB CCDS33169.1 r.? - - intronic 30 0 0 52 24 46.2 46 19 41.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.249234043 1.124617021 2 2.252643653 1.126321826 2 NA NA 1 NA NA 1 5 NA 1 1 2.22E-41 1 6.97E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 29266735 A C FAM179A CCDS1769.2 r.? - - intronic 24 0 0 47 22 46.8 52 18 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.278444874 1.139222437 2 1.887202673 0.943601336 2 NA NA 1 NA NA 1 5 NA 1 1 3.14E-38 1 1.39E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 29695528 A G ALK CCDS33172.1 r.? - - intronic 25 0 0 55 13 23.6 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.148959381 1.148959381 1 1.139957684 1.139957684 1 NA NA 1 NA NA 1 5 NA 1 1 1.46E-18 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 30162860 G C - - - - - - 42 0 0 41 23 56.1 46 20 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.731212766 1.365606383 2 2.372639198 1.186319599 2 NA NA 1 NA NA 1 5 NA 1 1 2.21E-42 1 4.72E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 30298900 T G - - - - - - 28 0 0 57 7 12.3 38 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.59882205 0.59882205 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.66E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 30457209 T G LBH CCDS33173.1 r.? - - intronic 31 0 0 52 5 9.6 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.467373308 0.467373308 1 1.003599109 1.003599109 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000668 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 30458743 G T LBH CCDS33173.1 r.? - - intronic 28 0 0 52 12 23.1 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.124617021 1.124617021 1 1.118140312 1.118140312 1 NA NA 1 NA NA 1 5 NA 1 1 4.19E-17 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 30577248 T C - - - - - - 31 0 0 47 10 21.3 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.036984526 1.036984526 1 1.194501114 1.194501114 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 31015507 T G CAPN13 CCDS46252.1 r.? - - intronic 35 0 0 60 9 15 49 10 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.730270793 0.730270793 1 1.112685969 1.112685969 1 NA NA 1 NA NA 1 5 NA 1 1 2.29E-11 1 6.72E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 31059226 C A - - - - - - 34 0 0 60 27 45 51 21 41.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.190812379 1.09540619 2 2.24718931 1.123594655 2 NA NA 1 NA NA 1 5 NA 1 1 5.59E-46 1 4.73E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 31319646 G T GALNT14 CCDS1773.2 r.? - - intronic 25 0 0 50 7 14 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.681586074 0.681586074 1 1.036325167 1.036325167 1 NA NA 1 NA NA 1 5 NA 1 1 6.46E-09 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 31474406 A G EHD3 CCDS1774.1 r.? - - intronic 34 0 0 52 13 25 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 0.779971047 0.779971047 1 NA NA 1 NA NA 1 5 NA 1 1 6.47E-19 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 31533765 C G - - - - - - 30 0 0 51 11 21.6 37 1 2.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.051589942 1.051589942 1 0.147267261 0.147267261 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-15 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 31768666 A C SRD5A2 ENST00000405650 r.? - - intronic 40 0 0 44 8 18.2 55 8 14.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.886061896 0.886061896 1 0.790879733 0.790879733 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 3.86E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 32300144 T G SPAST CCDS1778.1 r.? - - intronic 36 0 0 50 15 30 64 11 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.460541586 1.460541586 1 0.938146993 0.938146993 1 NA NA 1 NA NA 1 5 NA 1 1 5.83E-23 1 2.85E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 32371437 G T SPAST CCDS1778.1 r.? - - intronic 32 0 0 49 13 26.5 52 9 17.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.290145068 1.290145068 1 0.943601336 0.943601336 1 NA NA 1 NA NA 1 5 NA 1 1 2.71E-19 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 32419665 A G SLC30A6 CCDS1780.1 r.? - - intronic 34 0 0 50 11 22 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.07106383 1.07106383 1 1.390857461 1.390857461 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 32572201 G T - - - - - - 26 0 0 60 16 26.7 60 14 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.299882012 1.299882012 1 1.270861915 1.270861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-23 1 8.54E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 32844507 T G BIRC6 CCDS33175.2 r.? - - downstream 31 0 0 46 9 19.6 54 15 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 1.51630735 1.51630735 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 2.2E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 32990513 G T TTC27 CCDS33176.1 r.? - - intronic 26 0 0 54 17 31.5 42 17 40.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.848568665 0.924284333 2 2.614008909 1.307004454 2 NA NA 1 NA NA 1 5 NA 1 1 3.02E-26 1 1.73E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 33038579 A C TTC27 CCDS33176.1 r.? - - intronic 29 0 0 62 16 25.8 53 16 30.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.514065764 0.757032882 2 1.949211581 0.974605791 2 NA NA 1 NA NA 1 5 NA 1 1 3.36E-23 1 1.9E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 33044215 T G TTC27 CCDS33176.1 r.? - - intronic 38 0 0 59 12 20.3 63 15 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.191299807 1.191299807 1 1.53613363 0.768066815 2 NA NA 1 NA NA 1 5 NA 1 1 2.2E-16 1 2.97E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 33262066 G A LTBP1 CCDS33177.1 r.? - - intronic 37 0 0 58 18 31 48 18 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.819226306 0.909613153 2 2.420378619 1.21018931 2 NA NA 1 NA NA 1 5 NA 1 1 1.42E-27 1 2.42E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 33868482 G T - - - - - - 38 0 0 50 17 34 56 20 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.995280464 0.997640232 2 2.304200445 1.152100223 2 NA NA 1 NA NA 1 5 NA 1 1 6.43E-27 1 6.31E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 34059264 T A - - - - - - 43 0 0 69 24 34.8 56 17 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.04222824 1.02111412 2 1.962120267 0.981060134 2 NA NA 1 NA NA 1 5 NA 1 1 1.11E-37 1 6.22E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 34234840 G T - - - - - - 37 0 0 71 16 22.5 59 20 33.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.32040619 1.32040619 1 2.188022272 1.094011136 2 NA NA 1 NA NA 1 5 NA 1 1 3.77E-22 1 2.21E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 34290696 G A - - - - - - 28 0 0 58 19 32.8 54 13 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.924858801 0.9624294 2 1.555496659 1.555496659 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-29 1 1.12E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 34447079 C A - - - - - - 40 0 0 60 8 13.3 52 9 17.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.78050677 0.78050677 1 1.116601336 1.116601336 1 NA NA 1 NA NA 1 5 NA 1 1 7.93E-10 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 34505947 A G - - - - - - 31 0 0 53 6 11.3 53 6 11.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.663137331 0.663137331 1 0.729340757 0.729340757 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000293 1 0.000000293 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 34613052 A C - - - - - - 36 0 0 71 20 28.2 56 20 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.654909091 0.827454545 2 2.304200445 1.152100223 2 NA NA 1 NA NA 1 5 NA 1 1 1.68E-29 1 6.31E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 34774837 T A - - - - - - 20 0 0 70 10 14.3 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.839191489 0.839191489 1 1.123055679 1.123055679 1 NA NA 1 NA NA 1 5 NA 1 1 2.95E-12 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 34833129 A G - - - - - - 32 0 0 55 16 29.1 50 15 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.707725338 0.853862669 2 1.936302895 0.968151448 2 NA NA 1 NA NA 1 5 NA 1 1 3.78E-24 1 5.83E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 34837103 C T - - - - - - 32 0 0 68 27 39.7 57 20 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.329783366 1.164891683 2 2.265474388 1.132737194 2 NA NA 1 NA NA 1 5 NA 1 1 4.16E-44 1 9.67E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 35180531 G A - - - - - - 38 0 0 31 14 45.2 40 17 42.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 1.275018006 2 1 0 0 1 0.724981994 NA 2 NA 0 NA 0.275018006 1.748549323 0.874274662 2 1.584978421 1.243102775 1.275018006 NA NA 1 NA NA 0 5 NA 1 1 1.49E-24 1 6.07E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 35659353 G T - - - - - - 30 0 0 40 19 47.5 34 13 38.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 1.275018006 2 1 0 0 1 0.724981994 NA 2 NA 0 NA 0.275018006 1.837524178 0.918762089 2 1.424615898 1.424615898 1 NA NA 1 NA NA 0 5 NA 1 1 2.27E-33 1 1.03E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 36434989 T C - - - - - - 20 0 0 32 7 21.9 27 12 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.275018006 1 1 0 0 1 0.724981994 NA 2 NA 0 NA 0.275018006 0.628195358 0.628195358 1 1.65583628 1.298676781 1.275018006 NA NA 0 NA NA 1 5 NA 1 1 2.36E-10 1 3.96E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 37560733 G T - - - - - - 34 0 0 39 8 20.5 54 13 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 1.12E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 37778455 A T - - - - - - 43 0 0 43 16 37.2 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.439071567 1.439071567 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 3.56E-26 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 37951818 G C CDC42EP3 ENST00000453555 r.? - - intronic 38 0 0 43 10 23.3 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 38180283 T C FAM82A1 CCDS1792.1 r.? - - intronic 35 0 0 30 10 33.3 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 38436309 G A - - - - - - 32 0 0 51 12 23.5 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-17 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 38772551 A G - - - - - - 34 0 0 22 6 27.3 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-09 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 38826801 C G HNRPLL CCDS46261.1 r.? - - intronic 30 0 0 47 14 29.8 40 4 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.152804642 1.152804642 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 38931363 C A GALM CCDS1797.1 r.? - - intronic 19 0 0 44 9 20.5 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 38993440 G A GEMIN6 ENST00000409011 r.? - - intronic 36 0 0 44 15 34.1 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 6.12E-24 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 39357997 C G - - - - - - 41 0 0 44 10 22.7 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 39651090 A G MAP4K3 CCDS1803.1 r.? - - intronic 33 0 0 40 10 25 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.723830735 1.723830735 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 40243730 A T - - - - - - 35 0 0 44 11 25 33 12 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.621380846 1.621380846 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 40365845 C A SLC8A1 CCDS1806.1 r.? - - intronic 33 0 0 49 13 26.5 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 2.71E-19 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 40410807 C A SLC8A1 CCDS1806.1 r.? - - intronic 34 0 0 40 9 22.5 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 40465917 T A SLC8A1 CCDS1806.1 r.? - - intronic 33 0 0 32 8 25 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 40622630 G A SLC8A1 CCDS1806.1 r.? - - intronic 26 0 0 38 12 31.6 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 40706242 C T SLC8A1 CCDS1806.1 r.? - - intronic 39 0 0 39 6 15.4 41 15 36.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 1.630289532 1.630289532 1 NA NA 1 NA NA 1 5 NA 1 1 4.43E-08 1 1.71E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 40723743 C A SLC8A1 CCDS1806.1 r.? - - intronic 29 0 0 35 8 22.9 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 40723744 C A SLC8A1 CCDS1806.1 r.? - - intronic 30 0 0 38 8 21.1 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 40787991 C G SLC8A1 CCDS46264.1 r.? - - intronic 29 0 0 38 10 26.3 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 40870168 A G - - - - - - 39 0 0 37 10 27 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 40949551 C T - - - - - - 39 0 0 33 5 15.2 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.588007737 0.588007737 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000066 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 40962685 C T - - - - - - 30 0 0 55 14 25.5 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 2.19E-20 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 41115084 T A - - - - - - 34 0 0 46 13 28.3 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.094777563 1.094777563 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 1.07E-19 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 41341373 A G - - - - - - 36 0 0 36 13 36.1 30 3 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.396518375 1.396518375 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 2.53E-21 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 41593046 T A - - - - - - 33 0 0 33 4 12.1 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.468085106 0.468085106 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000228 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 42006044 G A - - - - - - 45 0 0 52 17 32.7 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.264990329 1.264990329 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.42E-26 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 42041346 A T - - - - - - 31 0 0 41 11 26.8 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 42234534 A C - - - - - - 32 0 0 60 15 25 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.708240535 0.708240535 1 NA NA 1 NA NA 1 5 NA 1 1 1.31E-21 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 42303560 A T - - - - - - 20 0 0 47 7 14.9 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.576402321 0.576402321 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 4.12E-09 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 43114468 A G - - - - - - 28 0 0 35 6 17.1 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 43174155 A C - - - - - - 27 0 0 50 12 24 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.928433269 0.928433269 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 2.49E-17 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 43175441 C T - - - - - - 35 0 0 37 13 35.1 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.357833656 1.357833656 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 43196934 G A - - - - - - 30 0 0 36 13 36.1 37 9 24.3 4 0 0 5 3 60 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.396518375 1.396518375 1 1.082405345 1.082405345 1 2.321083172 2.321083172 1 NA NA 1 5 NA 1 1 2.53E-21 0.00000124 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 44293923 C A - - - - - - 24 0 0 27 8 29.6 16 2 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.145067698 1.145067698 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 0.002863359 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 45070697 T C - - - - - - 34 0 0 44 14 31.8 29 3 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.230174081 1.230174081 1 0.458797327 0.458797327 1 NA NA 1 NA NA 1 5 NA 1 1 6.1E-22 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 45434993 T G - - - - - - 31 0 0 32 5 15.6 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000562 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 45974104 C G PRKCE CCDS1824.1 r.? - - intronic 26 0 0 38 13 34.2 36 11 30.6 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 45986246 C A PRKCE CCDS1824.1 r.? - - intronic 33 0 0 41 8 19.5 28 5 17.9 3 0 0 2 0 0 1 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.754352031 0.754352031 1 0.797327394 0.797327394 1 0 0 1 0 0 1 5 NA 1 1 3.22E-11 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 46035996 T A PRKCE CCDS1824.1 r.? - - intronic 30 0 0 38 11 28.9 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 46413525 G T PRKCE CCDS1824.1 r.4046g>u c.? p.? 3'UTR variant 27 0 0 34 12 35.3 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.3655706 1.3655706 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 46750478 G A ATP6V1E2 CCDS1826.1 r.? - - upstream 40 0 0 50 14 28 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.083172147 1.083172147 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.84E-21 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 46801717 C T RHOQ CCDS33191.1 r.? - - intronic 27 0 0 41 9 22 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 46946914 G C SOCS5 CCDS1830.1 r.? - - intronic 34 0 0 42 14 33.3 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-22 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 47044492 G A ENSG00000222005 ENST00000409912 r.336g>a c.194G>A p.C65Y missense 24 0 0 39 7 17.9 33 6 18.2 88 0 0 60 16 26.7 2 1 50 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 0.810690423 0.810690423 1 1.032882012 1.032882012 1 2.227171492 2.227171492 1 5 4 1 1 1.04E-09 1.86E-23 1.54E-08 0.009975 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 47403608 A T CALM2 CCDS1832.1 r.133u>a c.? p.? 5'UTR variant 28 0 0 37 7 18.9 29 9 31 133 0 0 194 63 32.5 4 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 1.380846325 1.380846325 1 1.257253385 1.257253385 1 0 0 1 5 5 1 1 7.05E-10 4.5E-94 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 47409110 G T - - - - - - 29 0 0 41 9 22 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 47451190 C T - - - - - - 31 0 0 34 7 20.6 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 47840542 A T - - - - - - 33 0 0 33 10 30.3 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 48010365 C G MSH6 CCDS1836.1 r.145c>g c.? p.? 5'UTR variant 35 0 0 32 10 31.2 6 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 48024078 C A MSH6 CCDS1836.1 r.? - - intronic 25 0 0 33 11 33.3 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 48661746 T C - - - - - - 39 0 0 30 7 23.3 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.930957684 0.930957684 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 48952866 A T LHCGR CCDS1842.1 r.354u>a c.332T>A p.L111Q missense 20 0 0 53 6 11.3 44 11 25 159 0 0 99 32 32.3 22 4 18.2 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.437137331 0.437137331 1 1.113585746 1.113585746 1 1.249516441 1.249516441 1 0.810690423 0.810690423 1 5 6 1 1 0.000000293 1.64E-48 3.22E-16 0.00000425 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 48994031 A G STON1-GTF2A1L ENST00000402114 r.? - - intronic 35 0 0 34 7 20.6 52 7 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 8.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 49510586 T G - - - - - - 35 0 0 33 12 36.4 34 4 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.408123791 1.408123791 1 0.525612472 0.525612472 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 49834848 T G - - - - - - 27 0 0 39 6 15.4 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 4.43E-08 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 50615108 T G NRXN1 CCDS46282.1 r.? - - intronic 28 0 0 39 11 28.2 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 51140990 C G NRXN1 CCDS46282.1 r.? - - intronic 36 0 0 43 13 30.2 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.16827853 1.16827853 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-20 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 51224234 C A NRXN1 CCDS46282.1 r.? - - intronic 37 0 0 43 8 18.6 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 51456943 G T - - - - - - 31 0 0 46 11 23.9 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.924564797 0.924564797 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 5.55E-16 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 51786055 G C - - - - - - 46 0 0 44 13 29.5 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 51959747 A T - - - - - - 45 0 0 46 14 30.4 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.176015474 1.176015474 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-21 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 52302733 A G - - - - - - 29 0 0 53 12 22.6 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 5.39E-17 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 52748687 A G - - - - - - 30 0 0 23 7 30.4 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.176015474 1.176015474 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-11 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 53121138 C A - - - - - - 30 0 0 56 18 32.1 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.241779497 1.241779497 1 0.779510022 0.779510022 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-28 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 53418315 A T - - - - - - 43 0 0 44 12 27.3 38 4 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.467706013 0.467706013 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 53433877 A C - - - - - - 37 0 0 42 9 21.4 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 53647599 T G - - - - - - 29 0 0 35 8 22.9 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 53669418 A G - - - - - - 41 0 0 41 13 31.7 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 0.650334076 0.650334076 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 53864648 T A ASB3 ENST00000406053 r.? - - intronic 32 0 0 34 10 29.4 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 54260238 G C - - - - - - 39 0 0 46 17 37 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.431334623 1.431334623 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 1.16E-27 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 55118954 T A EML6 CCDS46286.1 r.? - - intronic 30 0 0 41 12 29.3 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 55250608 C G RTN4 CCDS42684.1 r.? - - intronic 30 0 0 50 13 26 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.005802708 1.005802708 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 3.65E-19 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 55874577 A G PNPT1 CCDS1856.1 r.1594u>c c.1507T>C p.S503P missense 24 0 0 40 9 22.5 39 7 17.9 206 0 0 112 31 27.7 448 17 3.8 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.797327394 0.797327394 1 1.071566731 1.071566731 1 0.169265033 0.169265033 1 5 5 1 1 4.64E-13 1.3E-44 1.04E-09 2.44E-10 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 2 55953115 C T - - - - - - 36 0 0 31 7 22.6 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 55958366 C G - - - - - - 35 0 0 41 13 31.7 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 56087412 C G - - - - - - 41 0 0 38 6 15.8 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.611218569 0.611218569 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 56157471 T C - - - - - - 36 0 0 35 5 14.3 52 11 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 56236971 C A - - - - - - 39 0 0 47 7 14.9 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.576402321 0.576402321 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 4.12E-09 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 56477666 T G CCDC85A CCDS46290.1 r.? - - intronic 26 0 0 37 9 24.3 56 14 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 2.91E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 56614052 T C CCDC85A CCDS46290.1 r.? - - downstream 42 0 0 29 11 37.9 45 4 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.46615087 1.46615087 1 0.396436526 0.396436526 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 56767105 C G - - - - - - 46 0 0 43 11 25.6 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 57106513 G A - - - - - - 45 0 0 43 11 25.6 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 57629354 C A - - - - - - 25 0 0 47 14 29.8 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.152804642 1.152804642 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 57925143 T C - - - - - - 25 0 0 41 9 22 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 1.438752784 1.438752784 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 58082942 C T - - - - - - 38 0 0 36 5 13.9 44 3 6.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.537717602 0.537717602 1 0.302895323 0.302895323 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000104 1 0.00142027 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 58273572 C G VRK2 CCDS1859.1 r.? - - upstream 25 0 0 43 11 25.6 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 58318913 G C VRK2 CCDS1859.1 r.? - - intronic 35 0 0 33 7 21.2 57 13 22.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 1.0155902 1.0155902 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 58874826 A C - - - - - - 37 0 0 27 4 14.8 38 0 0 177 0 0 85 6 7.1 260 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.572533849 0.572533849 1 0 0 1 0.274661509 0.274661509 1 0 0 1 3 2 1 1 0.00001 0.00000487 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9776b 2 58944493 T C - - - - - - 25 0 0 39 16 41 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.586073501 1.586073501 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 5.16E-27 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 59180524 C G - - - - - - 31 0 0 36 11 30.6 25 11 44 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 1.959910913 1.959910913 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 2.04E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 59821317 C T - - - - - - 30 0 0 45 13 28.9 44 8 18.2 20 0 0 28 3 10.7 10 4 40 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.810690423 0.810690423 1 0.413926499 0.413926499 1 1.781737194 1.781737194 1 5 4 1 1 7.68E-20 0.000372895 5.9E-11 0.000000128 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 60489022 T C - - - - - - 25 0 0 35 11 31.4 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 60574176 G A - - - - - - 34 0 0 32 11 34.4 26 2 7.7 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.330754352 1.330754352 1 0.34298441 0.34298441 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 60609682 C A - - - - - - 19 0 0 50 8 16 27 5 18.5 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.618955513 0.618955513 1 0.824053452 0.824053452 1 0 0 1 NA NA 1 5 NA 1 1 1.74E-10 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 60874985 G C - - - - - - 47 0 0 40 11 27.5 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 61052446 A C - - - - - - 29 0 0 37 10 27 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 61818083 A T - - - - - - 30 0 0 46 8 17.4 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.67311412 0.67311412 1 1.135857461 1.135857461 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-11 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 61946912 G T - - - - - - 28 0 0 46 9 19.6 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 61991856 G A - - - - - - 29 0 0 39 9 23.1 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 62176338 C G COMMD1 CCDS1869.1 r.? - - intronic 33 0 0 41 10 24.4 38 9 23.7 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.055679287 1.055679287 1 NA NA 1 0 0 1 5 NA 1 1 9.51E-15 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 62586083 G T AC107081.2 ENST00000506268 r.? - - intronic 29 0 0 41 8 19.5 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.754352031 0.754352031 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 62913691 C T EHBP1 CCDS46300.1 r.? - - intronic 34 0 0 29 7 24.1 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.932301741 0.932301741 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 63594505 G T C2orf86 CCDS42688.1 r.? - - intronic 47 0 0 40 13 32.5 58 15 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 1.153674833 1.153674833 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 7.42E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 63859051 G C - - - - - - 36 0 0 35 11 31.4 41 4 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 0.436525612 0.436525612 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 64107001 A T UGP2 CCDS1875.1 r.? - - intronic 28 0 0 36 11 30.6 33 12 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 1.621380846 1.621380846 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 64474582 C T - - - - - - 30 0 0 36 9 25 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 65048947 C G - - - - - - 36 0 0 53 15 28.3 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.094777563 1.094777563 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-22 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 65197984 C T - - - - - - 31 0 0 33 6 18.2 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 65424874 C G - - - - - - 34 0 0 28 8 28.6 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 65843895 C A - - - - - - 45 0 0 32 7 21.9 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.847195358 0.847195358 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 66016028 A T - - - - - - 20 0 0 42 8 19 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.735009671 0.735009671 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 66650527 G A - - - - - - 34 0 0 46 8 17.4 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.67311412 0.67311412 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-11 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 66659155 A T MEIS1 CCDS46309.1 r.? - - upstream 38 0 0 47 11 23.4 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.905222437 0.905222437 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 7.21E-16 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 66939598 C G - - - - - - 35 0 0 44 11 25 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 67988256 G A - - - - - - 26 0 0 34 9 26.5 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.930957684 0.930957684 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 69190684 C T - - - - - - 48 0 0 41 11 26.8 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 70264629 A G - - - - - - 30 0 0 26 6 23.1 42 14 33.3 0 0 NA 1 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.483296214 1.483296214 1 0 0 1 NA NA 1 5 NA 1 1 3.3E-09 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 70362694 A C - - - - - - 28 0 0 40 12 30 29 3 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 0.458797327 0.458797327 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 70396729 G A C2orf42 CCDS1899.1 r.1484c>u c.1104C>T p.V368V silent 23 0 0 35 7 20 41 11 26.8 213 1 0.5 140 25 17.9 42 2 4.8 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.19376392 1.19376392 1 0.69245648 0.69245648 1 0.213808463 0.213808463 1 5 5 1 0.656191825 4.65E-10 5.08E-31 1.34E-16 0.018854633 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 2 70604467 A T - - - - - - 45 0 0 40 14 35 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.353965184 1.353965184 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-22 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 70809447 G A - - - - - - 33 0 0 38 13 34.2 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 0.659242762 0.659242762 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 71171359 G C ATP6V1B1 CCDS1912.1 r.? - - intronic 30 0 0 40 12 30 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.438752784 1.438752784 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 71264314 G C - - - - - - 35 0 0 42 5 11.9 35 0 0 154 0 0 103 4 3.9 498 1 0.2 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.460348162 0.460348162 1 0 0 1 0.150870406 0.150870406 1 0.008908686 0.008908686 1 3 2 1 1 0.00000228 0.00186448 1 0.917606261 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9776b 2 71680713 A T DYSF CCDS46323.1 r.? - - upstream 32 0 0 43 13 30.2 23 4 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.16827853 1.16827853 1 0.775055679 0.775055679 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-20 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 71792083 A T DYSF CCDS46323.1 r.? - - intronic 26 0 0 50 10 20 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 8.36E-14 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 71816513 A G DYSF CCDS46323.1 r.? - - intronic 30 0 0 38 15 39.5 36 3 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.528046422 1.528046422 1 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-25 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 72211487 A G - - - - - - 48 0 0 37 12 32.4 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 72733270 C T EXOC6B CCDS46333.1 r.? - - intronic 26 0 0 48 15 31.2 52 15 28.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 1.28285078 1.28285078 1 NA NA 1 NA NA 1 5 NA 1 1 2.86E-23 1 1.15E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 72757590 G C EXOC6B CCDS46333.1 r.? - - intronic 33 0 0 41 13 31.7 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 72940271 G C EXOC6B CCDS46333.1 r.? - - intronic 38 1 2.6 37 10 27 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 0.173434892 1 3.01E-15 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 72992933 G A EXOC6B CCDS46333.1 r.? - - intronic 30 0 0 35 11 31.4 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 1.532293987 1.532293987 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 73138342 G C - - - - - - 42 0 0 46 15 32.6 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-23 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 73344484 C G RAB11FIP5 CCDS1923.1 r.? - - upstream 39 0 0 42 11 26.2 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.013539652 1.013539652 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 73868855 G T NAT8B CCDS1926.1 r.? - - intronic 30 0 0 41 11 26.8 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 73868856 A T NAT8B CCDS1926.1 r.? - - intronic 28 0 0 41 11 26.8 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 73872190 G T NAT8B CCDS1926.1 r.? - - upstream 28 0 0 43 12 27.9 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 74756392 A G AUP1 CCDS42702.1 r.516u>c c.206T>C p.M69T missense 29 0 0 50 10 20 21 4 19 173 0 0 252 69 27.4 116 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.846325167 0.846325167 1 1.059961315 1.059961315 1 0 0 1 5 5 1 1 8.36E-14 6.77E-97 0.00000349 1 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9776b 2 74828692 T G C2orf65 CCDS33229.1 r.? - - intronic 31 0 0 42 14 33.3 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-22 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 75160448 A T - - - - - - 27 0 0 40 12 30 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 0.792873051 0.792873051 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 75581974 G C - - - - - - 43 0 0 32 11 34.4 55 13 23.6 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.330754352 1.330754352 1 1.051224944 1.051224944 1 0 0 1 NA NA 1 5 NA 1 1 5.72E-18 1 1.46E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 75803082 T C - - - - - - 28 0 0 33 9 27.3 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 76143243 C A - - - - - - 30 0 0 43 12 27.9 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 76294061 A T - - - - - - 39 0 0 45 10 22.2 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.318485523 1.318485523 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 76408631 A G - - - - - - 36 0 0 51 12 23.5 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-17 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 76617833 C A - - - - - - 33 0 0 42 14 33.3 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-22 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 76814828 C A - - - - - - 35 0 0 49 14 28.6 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.5E-21 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 76830116 T A - - - - - - 26 0 0 44 8 18.2 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 77031410 C T LRRTM4 CCDS46346.1 r.? - - intronic 48 0 0 56 13 23.2 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.897485493 0.897485493 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-18 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 77292882 C G LRRTM4 CCDS46346.1 r.? - - intronic 33 0 0 42 9 21.4 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.750556793 1.750556793 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 77431215 G T LRRTM4 CCDS46346.1 r.? - - intronic 30 0 0 46 8 17.4 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.67311412 0.67311412 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-11 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 77478964 C T LRRTM4 CCDS46346.1 r.? - - intronic 25 0 0 42 9 21.4 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 77617192 A T LRRTM4 CCDS46346.1 r.? - - intronic 39 0 0 39 12 30.8 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 77782188 G T LRRTM4 ENST00000456154 r.? - - intronic 34 0 0 35 10 28.6 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 77798918 G C LRRTM4 ENST00000456154 r.? - - intronic 28 0 0 35 6 17.1 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 0.538975501 0.538975501 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 78253917 G T - - - - - - 44 0 0 39 6 15.4 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 4.43E-08 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 78282158 T A - - - - - - 37 0 0 40 7 17.5 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.676982592 0.676982592 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 78876568 C G - - - - - - 44 0 0 46 16 34.8 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.34622824 1.34622824 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 1.31E-25 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 79227530 C A - - - - - - 26 0 0 44 7 15.9 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.615087041 0.615087041 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 79362706 C A - - - - - - 23 0 0 55 15 27.3 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.650334076 0.650334076 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-22 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 79593284 G T CTNNA2 CCDS42703.2 r.? - - intronic 38 0 0 29 10 34.5 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.334622824 1.334622824 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 79797785 T C CTNNA2 CCDS42703.2 r.? - - intronic 44 0 0 47 12 25.5 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 79824459 G A CTNNA2 CCDS42703.2 r.? - - intronic 27 0 0 37 12 32.4 33 2 6.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 0.271714922 0.271714922 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 79847066 C A CTNNA2 CCDS42703.2 r.? - - intronic 33 1 3 44 13 29.5 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 0.15245715 1 5.49E-20 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 79907687 A T CTNNA2 CCDS42703.2 r.? - - intronic 34 0 0 40 9 22.5 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.621380846 1.621380846 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 80320375 G C CTNNA2 CCDS42703.2 r.? - - intronic 28 0 0 27 11 40.7 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.574468085 1.574468085 1 1.648106904 1.648106904 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 80428045 C T CTNNA2 CCDS42703.2 r.? - - intronic 40 0 0 40 10 25 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 80443253 G T CTNNA2 CCDS42703.2 r.? - - intronic 39 0 0 39 10 25.6 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 80456440 G T CTNNA2 CCDS42703.2 r.? - - intronic 33 0 0 36 7 19.4 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 80975380 A G - - - - - - 30 0 0 43 9 20.9 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.808510638 0.808510638 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 81120400 G A - - - - - - 28 0 0 44 13 29.5 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 81134597 G A - - - - - - 45 0 0 41 12 29.3 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 81348847 G A - - - - - - 36 0 0 37 6 16.2 24 2 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.626692456 0.626692456 1 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-08 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 81375544 A G - - - - - - 52 0 0 49 11 22.4 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.866537718 0.866537718 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 81702620 C T - - - - - - 35 0 0 34 6 17.6 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-08 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 81734069 T C - - - - - - 46 0 0 43 10 23.3 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.855233853 0.855233853 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 81866631 C A - - - - - - 28 0 0 42 10 23.8 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 81938670 T G - - - - - - 43 0 0 45 12 26.7 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 6.03E-18 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 81981265 G A - - - - - - 29 0 0 33 10 30.3 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 82104658 G T - - - - - - 38 0 0 36 8 22.2 23 4 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.775055679 0.775055679 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 82165867 C G - - - - - - 34 0 0 49 10 20.4 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.789168279 0.789168279 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-14 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 82612003 A G - - - - - - 33 0 0 40 11 27.5 55 12 21.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 0.971046771 0.971046771 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 8.78E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 82667510 C T - - - - - - 38 0 0 34 5 14.7 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.568665377 0.568665377 1 0.516703786 0.516703786 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 82838275 T G - - - - - - 35 0 0 41 12 29.3 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 0.712694878 0.712694878 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 83027555 C A - - - - - - 42 0 0 40 9 22.5 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 83425306 G C - - - - - - 36 0 0 32 8 25 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 83481666 T A - - - - - - 31 0 0 45 12 26.7 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 6.03E-18 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 83586619 T C - - - - - - 39 0 0 39 18 46.2 38 14 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.787234043 1.787234043 1 1.639198218 1.639198218 1 NA NA 1 NA NA 1 5 NA 1 1 2.15E-31 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 83679108 G A - - - - - - 36 0 0 36 14 38.9 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.50483559 1.50483559 1 1.532293987 1.532293987 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 84018376 T C - - - - - - 42 0 0 33 11 33.3 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 84354923 G C - - - - - - 27 0 0 42 13 31 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 2.72E-20 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 84381970 C G - - - - - - 35 0 0 37 9 24.3 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 85181209 G C - - - - - - 22 0 0 48 9 18.8 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 85459005 C A TCF7L1 CCDS1971.1 r.? - - intronic 28 0 0 55 13 23.6 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.912959381 0.912959381 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.46E-18 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 86280207 T G POLR1A CCDS42706.1 r.? - - intronic 36 0 0 36 14 38.9 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.50483559 1.50483559 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 86546169 G C REEP1 CCDS1989.1 r.? - - intronic 31 0 0 38 11 28.9 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 86818922 G A VPS24 ENST00000439940 r.? - - intronic 36 0 0 31 10 32.3 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 86917541 G A VPS24 ENST00000409384 r.? - - intronic 30 0 0 37 8 21.6 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 87250825 C G PLGLB1 CCDS33238.1 r.? - - upstream 17 0 0 28 4 14.3 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000116 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 87445077 T G - - - - - - 16 0 0 22 7 31.8 12 1 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.230174081 1.230174081 1 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 0.058377193 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 87572851 T A - - - - - - 29 0 0 42 9 21.4 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 88477432 T C THNSL2 CCDS2002.2 r.? - - intronic 20 0 0 39 5 12.8 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.49516441 0.49516441 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000156 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 88759922 C G - - - - - - 30 0 0 41 14 34.1 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-22 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 88812754 C G - - - - - - 36 0 0 41 9 22 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 89252565 A T - - - - - - 27 0 0 26 6 23.1 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 0.893617021 0.893617021 1 1.019624071 1.019624071 1 NA NA 0 NA NA 1 5 NA 1 1 3.3E-09 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 89454054 A C - - - - - - 22 0 0 29 7 24.1 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 0.932301741 0.932301741 1 1.96081552 1.354438894 1.447695816 NA NA 0 NA NA 1 5 NA 1 1 1.11E-10 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 90091914 A C - - - - - - 31 0 0 44 8 18.2 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 0.704061896 0.704061896 1 1.416689213 1.416689213 1 NA NA 0 NA NA 1 5 NA 1 1 5.9E-11 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 91678804 T A - - - - - - 49 0 0 84 6 7.1 71 6 8.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 0.274661509 0.274661509 1 0.416673298 0.930706258 0.447695816 NA NA 0 NA NA 1 2 NA 1 1 0.00000455 1 0.00000169 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 91925970 G C - - - - - - 47 0 0 93 8 8.6 81 4 4.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 0.332688588 0.332688588 1 0.240199901 0.536524784 0.447695816 NA NA 0 NA NA 1 2 NA 1 1 2.73E-08 1 0.000765256 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 91935977 G T - - - - - - 34 0 0 56 10 17.9 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 0.69245648 0.69245648 1 1.019624071 1.019624071 1 NA NA 0 NA NA 1 5 NA 1 1 2.82E-13 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 95500817 G T - - - - - - 32 0 0 31 8 25.8 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 0.998065764 0.998065764 1 1.691203386 1.168203546 1.447695816 NA NA 0 NA NA 1 5 NA 1 1 2.78E-12 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 95728691 G T - - - - - - 38 0 0 47 14 29.8 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 1.152804642 1.152804642 1 0.960799605 0.960799605 1 NA NA 0 NA NA 1 5 NA 1 1 1.79E-21 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 96024068 C A KCNIP3 CCDS2013.1 r.? - - intronic 25 0 0 27 8 29.6 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 1.145067698 1.145067698 1 1.254921933 1.254921933 1 NA NA 0 NA NA 1 5 NA 1 1 7.97E-13 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 96432340 G C - - - - - - 33 0 0 40 6 15 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 0.580270793 0.580270793 1 1.024526109 1.024526109 1 NA NA 0 NA NA 1 5 NA 1 1 5.18E-08 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 96632861 G T ENSG00000174501 ENST00000456556 r.? - - intronic 36 0 0 44 15 34.1 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 1.319148936 1.319148936 1 0.911779217 0.911779217 1 NA NA 0 NA NA 1 5 NA 1 1 6.12E-24 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 96989896 A T ITPRIPL1 CCDS33250.1 r.? - - upstream 33 0 0 48 16 33.3 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 1.288201161 1.288201161 1 1.166685235 1.166685235 1 NA NA 0 NA NA 1 5 NA 1 1 2.96E-25 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 97102930 C G - - - - - - 41 0 0 38 11 28.9 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 1.117988395 1.117988395 1 1.004917954 1.004917954 1 NA NA 0 NA NA 1 5 NA 1 1 5.19E-17 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 98358314 G C ZAP70 CCDS33254.1 r.? - - downstream 28 0 0 38 11 28.9 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 1.117988395 1.117988395 1 0.960799605 0.960799605 1 NA NA 0 NA NA 1 5 NA 1 1 5.19E-17 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 98396137 A G TMEM131 CCDS46368.1 r.? - - intronic 30 0 0 34 8 23.5 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 0.909090909 0.909090909 1 0.98040776 0.98040776 1 NA NA 0 NA NA 1 5 NA 1 1 6.32E-12 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 98585667 A C TMEM131 CCDS46368.1 r.? - - intronic 27 0 0 53 7 13.2 41 0 0 115 0 0 87 15 17.2 19 0 0 TRUE TRUE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 0.510638298 0.510638298 1 0 0 1 0.665377176 0.665377176 1 0 0 1 3 5 1 1 9.85E-09 5.73E-19 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 98688751 T G - - - - - - 25 0 0 43 16 37.2 43 13 30.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 1.439071567 1.439071567 1 1.480415718 1.480415718 1 NA NA 0 NA NA 1 5 NA 1 1 3.56E-26 1 3.88E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 98736210 G A VWA3B CCDS42718.1 r.790g>a c.526G>A p.E176K missense 40 0 0 47 12 25.5 51 15 29.4 216 0 0 151 39 25.8 31 4 12.9 TRUE TRUE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 0.986460348 0.986460348 1 1.441199407 1.441199407 1 0.998065764 0.998065764 1 0.632363005 0.632363005 1 5 6 1 1 1.09E-17 2.25E-54 8.22E-23 0.0000177 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 2 98905159 C T VWA3B CCDS42718.1 r.? - - intronic 38 0 0 41 9 22 38 1 2.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 0.85106383 0.85106383 1 0.127453009 0.127453009 1 NA NA 0 NA NA 1 3 NA 1 1 5.92E-13 1 0.173434892 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 98936274 C T - - - - - - 30 0 0 25 8 32 23 10 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 1.237911025 1.237911025 1 2.132386878 1.472952297 1.447695816 NA NA 0 NA NA 1 5 NA 1 1 3.92E-13 1 1.05E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 99046070 G A - - - - - - 31 0 0 33 10 30.3 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 1 1 1 1 0 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 1.336830735 1.336830735 1 NA NA 1 NA NA 0 5 NA 1 1 8.14E-16 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 99091098 C T INPP4A CCDS46369.1 r.? - - intronic 25 0 0 28 8 28.6 26 11 42.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 1 1 1 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.018243907 1.018243907 1 1.461187082 1.461187082 1 NA NA 0 NA NA 1 5 NA 1 1 1.11E-12 1 3.52E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 99426022 C T C2orf55 CCDS42720.1 r.? - - intronic 38 0 0 29 5 17.2 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 1 1 1 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 0.612370462 0.612370462 1 1.267743875 1.267743875 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000336 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 99757002 G A TSGA10 CCDS2037.1 r.? - - intronic 38 0 0 27 6 22.2 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 1 1 1 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 0.790385131 0.790385131 1 1.015576837 1.015576837 1 NA NA 0 NA NA 1 5 NA 1 1 4.23E-09 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 100048946 C G REV1 CCDS2045.1 r.? - - intronic 32 0 0 38 13 34.2 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 1 1 1 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.217620336 1.217620336 1 1.063937639 1.063937639 1 NA NA 0 NA NA 1 5 NA 1 1 5.88E-21 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 100621630 A G AFF3 CCDS42723.1 r.? - - intronic 32 0 0 38 16 42.1 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.498883514 0.885958464 1.691821428 1.14922049 1.14922049 1 NA NA 0 NA NA 1 5 NA 1 1 3.06E-27 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 101339433 C G - - - - - - 28 0 0 42 19 45.2 36 19 52.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.609252608 0.951195311 1.691821428 2.351893096 1.175946548 2 NA NA 0 NA NA 1 5 NA 1 1 7.64E-33 1 1.51E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 102673145 G T - - - - - - 32 0 0 38 18 47.4 31 14 45.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.687579063 0.997492427 1.691821428 2.013363029 1.006681514 2 NA NA 0 NA NA 1 5 NA 1 1 1.16E-31 1 1.49E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 103315965 A C SLC9A2 CCDS2062.1 r.? - - intronic 34 0 0 39 24 61.5 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 2.18958043 1.294214858 1.691821428 1.581291759 1.581291759 1 NA NA 0 NA NA 1 5 NA 1 1 1.39E-45 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 103489581 G T - - - - - - 38 0 0 42 21 50 41 15 36.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.780146691 1.052207202 1.691821428 1.630289532 0.815144766 2 NA NA 0 NA NA 1 5 NA 1 1 2.32E-37 1 1.71E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 103749889 C G - - - - - - 42 0 0 25 10 40 38 21 55.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.424117353 1.424117353 1 2.46325167 1.231625835 2 NA NA 0 NA NA 1 5 NA 1 1 2.98E-17 1 1.27E-38 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 103827198 G C - - - - - - 20 0 0 40 24 60 35 11 31.4 257 1 0.4 127 67 52.8 362 257 71 TRUE TRUE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 2.136176029 1.262648642 1.691821428 1.398663697 1.398663697 1 1.879834905 1.111130805 1.691821428 3.162583519 1.581291759 2 5 4 1 0.724239694 3.47E-45 5E-118 1.82E-17 0 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 2 103827203 T G - - - - - - 17 0 0 43 24 55.8 34 13 38.2 261 0 0 128 67 52.3 354 252 71.2 TRUE TRUE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.986643707 1.174263237 1.691821428 1.70155902 0.85077951 2 1.862033438 1.100608733 1.691821428 3.171492205 1.585746102 2 5 4 1 1 4.35E-44 1.04E-117 1.03E-21 0 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 2 103875480 G C - - - - - - 31 0 0 29 17 58.6 28 11 39.3 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 2.086331921 1.233186841 1.691821428 1.750556793 0.875278396 2 NA NA 0 NA NA 1 5 NA 1 1 3.74E-32 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 104181678 T A - - - - - - 30 0 0 33 13 39.4 28 12 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.402755592 1.402755592 1 1.91091314 0.95545657 2 NA NA 0 NA NA 1 5 NA 1 1 6.37E-22 1 6.9E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 104492362 C T - - - - - - 35 0 0 35 19 54.3 32 19 59.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.933239306 1.142697021 1.691821428 2.645879733 1.322939866 2 NA NA 0 NA NA 1 5 NA 1 1 7.18E-35 1 6.23E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 104725921 C T - - - - - - 29 0 0 33 15 45.5 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.619933489 0.957508554 1.691821428 1.563474388 0.781737194 2 NA NA 0 NA NA 1 5 NA 1 1 2.91E-26 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 104808593 G T - - - - - - 44 0 0 40 19 47.5 36 12 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.691139356 0.999596842 1.691821428 1.483296214 1.483296214 1 NA NA 0 NA NA 1 5 NA 1 1 2.27E-33 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 104907874 T G - - - - - - 44 0 0 48 21 43.8 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.559408501 0.921733509 1.691821428 1.53674833 1.53674833 1 NA NA 0 NA NA 1 5 NA 1 1 9.35E-36 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 105296345 G A - - - - - - 39 0 0 40 21 52.5 34 14 41.2 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.869154025 1.104817562 1.691821428 1.83518931 0.917594655 2 NA NA 0 NA NA 1 5 NA 1 1 5.72E-38 1 7.74E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 106017243 A G FHL2 CCDS2070.1 r.? - - upstream 22 0 0 34 6 17.6 36 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 0.626611635 0.626611635 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 1.86E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 106115705 G A - - - - - - 39 0 0 38 12 31.6 39 14 35.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.125052709 1.125052709 1 1.599109131 0.799554566 2 NA NA 0 NA NA 1 5 NA 1 1 5.86E-19 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 106707517 G A UXS1 CCDS46378.1 r.? - - downstream 28 0 0 33 7 21.2 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 0.754782197 0.754782197 1 1.086859688 1.086859688 1 NA NA 0 NA NA 1 5 NA 1 1 2.98E-10 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 107151367 T A - - - - - - 22 0 0 29 17 58.6 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 2.086331921 1.233186841 1.691821428 1.318485523 1.318485523 1 NA NA 0 NA NA 1 5 NA 1 1 3.74E-32 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 107425624 T G ST6GAL2 CCDS2073.1 r.? - - intronic 27 0 0 29 12 41.4 28 13 46.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.47396146 1.47396146 1 2.066815145 1.033407572 2 NA NA 0 NA NA 1 5 NA 1 1 1.17E-20 1 4.26E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 107692330 G C - - - - - - 43 0 0 46 29 63 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 2.24298483 1.325781074 1.691821428 1.634743875 0.817371938 2 NA NA 0 NA NA 1 5 NA 1 1 3E-55 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 108128393 G A - - - - - - 26 0 0 37 19 51.4 31 16 51.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.829990798 1.081669004 1.691821428 2.29844098 1.14922049 2 NA NA 0 NA NA 1 5 NA 1 1 3.09E-34 1 4.27E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 108365647 A T - - - - - - 28 0 0 38 22 57.9 31 15 48.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 2.061409868 1.21845594 1.691821428 2.155902004 1.077951002 2 NA NA 0 NA NA 1 5 NA 1 1 4.91E-41 1 8.51E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 108524086 T C - - - - - - 35 0 0 43 25 58.1 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 2.068530455 1.222664769 1.691821428 1.581291759 1.581291759 1 NA NA 0 NA NA 1 5 NA 1 1 1.66E-46 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 108677638 A G - - - - - - 27 0 0 31 15 48.4 34 15 44.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.723181997 1.018536571 1.691821428 1.964365256 0.982182628 2 NA NA 0 NA NA 1 5 NA 1 1 8.51E-27 1 5.18E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 108716981 A G - - - - - - 40 0 0 44 25 56.8 30 17 56.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 2.022246641 1.195307381 1.691821428 2.525612472 1.262806236 2 NA NA 0 NA NA 1 5 NA 1 1 3.83E-46 1 8.59E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 108765901 A T - - - - - - 32 0 0 41 24 58.5 44 24 54.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 2.082771628 1.231082426 1.691821428 2.427616927 1.213808463 2 NA NA 0 NA NA 1 5 NA 1 1 8.33E-45 1 9.53E-44 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 108938517 A T - - - - - - 31 0 0 47 27 57.4 36 16 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 2.043608401 1.207933868 1.691821428 1.977728285 0.988864143 2 NA NA 0 NA NA 1 5 NA 1 1 6.6E-50 1 1.01E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 110024888 C T SH3RF3 ENST00000309415 r.? - - intronic 32 0 0 38 19 50 35 15 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 1.780146691 1.052207202 1.691821428 1.91091314 0.95545657 2 NA NA 0 NA NA 1 5 NA 1 1 6.16E-34 1 9.02E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 112116984 G T - - - - - - 31 0 0 30 6 20 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 8.37E-09 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 112505427 T A - - - - - - 42 0 0 47 12 25.5 40 4 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.731460348 0.731460348 1 0.345434298 0.345434298 1 NA NA 1 NA NA 1 4 NA 1 1 1.09E-17 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 112600697 C G ANAPC1 CCDS2093.1 r.? - - intronic 37 0 0 20 7 35 24 9 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.003965184 1.003965184 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-12 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 113950751 G T PSD4 CCDS33276.1 r.? - - intronic 32 0 0 26 11 42.3 23 9 39.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.350648107 1.350648107 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 1.5E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 114061839 A G - - - - - - 26 0 0 19 6 31.6 17 4 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.906437137 0.906437137 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 4.01E-10 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 114061841 A T - - - - - - 25 0 0 20 7 35 18 4 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.003965184 1.003965184 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-12 1 0.00000181 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 114308962 C G - - - - - - 29 0 0 35 11 31.4 16 5 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.900700193 0.900700193 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 0.000000013 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 114445709 C G - - - - - - 44 0 0 22 8 36.4 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 0.756501114 0.756501114 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-13 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 114924515 T C - - - - - - 38 0 0 34 13 38.2 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.095756286 1.095756286 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 115328241 A T DPP10 CCDS46400.1 r.? - - intronic 26 0 0 25 8 32 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 115528525 A T DPP10 CCDS46400.1 r.? - - intronic 47 0 0 29 14 48.3 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.385471954 1.385471954 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.41E-25 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 115609856 G C DPP10 CCDS46400.1 r.? - - intronic 32 0 0 24 5 20.8 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.596642166 0.596642166 1 0.780681514 0.780681514 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 115797937 A T DPP10 CCDS46400.1 r.? - - intronic 39 0 0 26 15 57.7 23 10 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.655108317 1.655108317 1 1.502639198 1.502639198 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-28 1 1.05E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 116357995 A G DPP10 CCDS46400.1 r.? - - intronic 28 0 0 38 13 34.2 24 10 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.981017408 0.981017408 1 1.440461024 1.440461024 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 1.8E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 116470815 A T DPP10 CCDS46400.1 r.? - - intronic 25 0 0 33 9 27.3 36 12 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 116475414 T A DPP10 CCDS46400.1 r.? - - intronic 39 0 0 37 16 43.2 23 3 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.239179884 1.239179884 1 0.449064588 0.449064588 1 NA NA 1 NA NA 1 5 NA 1 1 1.78E-27 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 116509197 C T DPP10 CCDS46400.1 r.? - - intronic 43 0 0 26 10 38.5 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 1.046665924 1.046665924 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 116619367 C T - - - - - - 30 0 0 31 5 16.1 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.461823985 0.461823985 1 1.184839644 1.184839644 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000476 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 116689356 A C - - - - - - 35 0 0 29 7 24.1 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.691301741 0.691301741 1 1.202111359 1.202111359 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 116940147 T A - - - - - - 37 0 0 28 9 32.1 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.920779497 0.920779497 1 0.839405345 0.839405345 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 116962622 T A - - - - - - 31 0 0 33 14 42.4 31 11 35.5 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.216232108 1.216232108 1 1.226291759 1.226291759 1 NA NA 1 0 0 1 5 NA 1 1 4.57E-24 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 117046975 A T - - - - - - 39 0 0 42 14 33.3 22 3 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.469790646 0.469790646 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-22 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 117307218 T C - - - - - - 43 0 0 25 8 32 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 0.887766147 0.887766147 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 117502534 G T - - - - - - 25 0 0 24 7 29.2 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 0.732320713 0.732320713 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 117925406 G T - - - - - - 22 0 0 27 11 40.7 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 0.618327394 0.618327394 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 118362714 G T - - - - - - 23 0 0 23 6 26.1 28 13 46.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.74867118 0.74867118 1 1.602815145 1.602815145 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-09 1 4.26E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 118365625 A C - - - - - - 42 0 0 34 14 41.2 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.181810445 1.181810445 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 7.74E-24 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 118932994 G A - - - - - - 30 0 0 30 9 30 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 0.749592428 0.749592428 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 120098797 C G C2orf76 CCDS42739.1 r.? - - intronic 32 0 0 31 10 32.3 33 16 48.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 1.675356347 1.675356347 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 1.64E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 120683845 C G PTPN4 CCDS2129.1 r.? - - intronic 37 0 0 37 11 29.7 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.85193617 0.85193617 1 1.202111359 1.202111359 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 120902337 T C EPB41L5 CCDS2130.1 r.? - - intronic 31 0 0 38 18 47.4 36 13 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.359655706 1.359655706 1 1.247017817 1.247017817 1 NA NA 1 NA NA 1 5 NA 1 1 1.16E-31 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 121490728 C T GLI2 ENST00000418323 r.? - - upstream 29 0 0 30 11 36.7 36 14 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 1.343739421 1.343739421 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 122459792 T C - - - - - - 29 0 0 26 8 30.8 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 0.639053452 0.639053452 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 122572556 A C - - - - - - 45 0 0 30 8 26.7 24 9 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 122650550 G T - - - - - - 23 0 0 30 10 33.3 3 1 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 0.014925125 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 122693282 C G - - - - - - 32 0 0 20 5 25 28 13 46.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.602815145 1.602815145 1 NA NA 1 NA NA 1 5 NA 1 1 4.55E-08 1 4.26E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 122887371 T C - - - - - - 36 0 0 26 9 34.6 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 122889973 T A - - - - - - 35 0 0 28 11 39.3 20 5 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.127309478 1.127309478 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 123078467 C T - - - - - - 26 0 0 31 7 22.6 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.648274662 0.648274662 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 123116102 A C - - - - - - 39 0 0 24 6 25 23 9 39.1 0 0 NA 2 0 0 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.350648107 1.350648107 1 0 0 1 NA NA 1 5 NA 1 1 1.95E-09 1 1.5E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 123337448 C T - - - - - - 28 0 0 29 13 44.8 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.285075435 1.285075435 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 7.69E-23 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 123396228 C A - - - - - - 40 0 0 25 14 56 22 7 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.606344294 1.606344294 1 1.098481069 1.098481069 1 NA NA 1 NA NA 1 5 NA 1 1 2.58E-26 1 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 123837198 G C - - - - - - 26 0 0 34 17 50 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-30 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 123946027 T A - - - - - - 35 0 0 38 8 21.1 37 14 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.605247582 0.605247582 1 1.305741648 1.305741648 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 124174029 C G - - - - - - 28 0 0 23 10 43.5 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.2477853 1.2477853 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 1.05E-17 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 124405619 A G - - - - - - 34 0 0 26 8 30.8 19 6 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 1.091572383 1.091572383 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 4.01E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 124490256 G A - - - - - - 26 0 0 23 7 30.4 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.872015474 0.872015474 1 0.718503341 0.718503341 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-11 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 124800690 C G CNTNAP5 CCDS46401.1 r.? - - intronic 38 0 0 25 10 40 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 124816700 G C CNTNAP5 CCDS46401.1 r.? - - intronic 50 0 0 18 7 38.9 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.11583559 1.11583559 1 0.884311804 0.884311804 1 NA NA 1 NA NA 1 5 NA 1 1 2.37E-12 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 125020382 C G CNTNAP5 CCDS46401.1 r.? - - intronic 24 0 0 29 13 44.8 15 4 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.285075435 1.285075435 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 7.69E-23 1 0.000000816 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 125481441 G T CNTNAP5 CCDS46401.1 r.? - - intronic 25 0 0 27 10 37 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 125649075 T C CNTNAP5 CCDS46401.1 r.? - - intronic 34 0 0 23 5 21.7 25 13 52 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.622458414 0.622458414 1 1.796258352 1.796258352 1 NA NA 1 NA NA 1 5 NA 1 1 9.75E-08 1 6E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 125948598 T A - - - - - - 42 0 0 33 14 42.4 35 9 25.7 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.216232108 1.216232108 1 0.887766147 0.887766147 1 NA NA 1 NA NA 1 5 NA 1 1 4.57E-24 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 126046516 C A - - - - - - 33 0 0 29 9 31 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 126219489 C T - - - - - - 32 0 0 37 13 35.1 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.006833656 1.006833656 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 127144851 C T - - - - - - 28 0 0 30 11 36.7 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 0.677051225 0.677051225 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 127295484 T C - - - - - - 37 0 0 25 8 32 21 9 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 5.44E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 127981093 A G CYP27C1 CCDS33285.1 r.? - - upstream 33 0 0 32 10 31.2 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 128231403 C T - - - - - - 23 0 0 32 10 31.2 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 128766913 T A SAP130 CCDS2153.1 r.? - - intronic 25 0 0 29 17 58.6 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.680924565 1.680924565 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.74E-32 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 129460366 C G - - - - - - 24 0 0 32 8 25 32 14 43.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.513002227 1.513002227 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 2.65E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 129648727 A T - - - - - - 35 0 0 23 9 39.1 25 2 8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 0.276347439 0.276347439 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 129715348 G A - - - - - - 38 0 0 24 7 29.2 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 129924174 T C - 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- - - - - 32 0 0 38 12 31.6 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.906437137 0.906437137 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 130693177 C G - - - - - - 36 0 0 18 6 33.3 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-10 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 131139682 G T - - - - - - 29 0 0 22 10 45.5 14 6 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 5.98E-18 1 4.53E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 131761365 G C ARHGEF4 CCDS42754.1 r.? - - intronic 35 0 0 31 12 38.7 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.110098646 1.110098646 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 131832080 T A FAM168B CCDS42755.1 r.? - - intronic 24 0 0 22 7 31.8 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 132218562 G A - - - - - - 25 0 0 15 5 33.3 11 2 18.2 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000009 1 0.001334363 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 132405927 C T - - - - - - 24 0 0 28 8 28.6 23 4 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.601055679 0.601055679 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 132445960 C A - - - - - - 31 0 0 30 8 26.7 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 1.057028953 1.057028953 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 132613506 T C - - - - - - 42 0 0 28 9 32.1 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.920779497 0.920779497 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 132739397 T G - - - - - - 32 0 0 28 12 42.9 22 7 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 1.098481069 1.098481069 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 133054751 C A - - - - - - 78 0 0 57 7 12.3 50 11 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.35282205 0.35282205 1 0.759955457 0.759955457 1 NA NA 1 NA NA 1 2 NA 1 1 1.66E-08 1 1.52E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 133057513 G A - - - - - - 42 0 0 45 9 20 42 3 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0.245258352 0.245258352 1 NA NA 1 NA NA 1 4 NA 1 1 1.47E-12 1 0.001240292 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 133086238 G C - 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- - - - - 38 0 0 30 9 30 26 10 38.5 2 0 0 2 2 100 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 1.329922049 1.329922049 1 2.868471954 2.868471954 1 NA NA 1 5 NA 1 1 2.54E-14 0.000025 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 140171556 G T - - - - - - 23 0 0 37 15 40.5 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.161731141 1.161731141 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.58E-25 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 140428233 A T - - - - - - 40 0 0 40 12 30 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 141471862 G A LRP1B CCDS2182.1 r.? - - intronic 39 0 0 35 7 20 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0.55614922 0.55614922 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 141617936 T A LRP1B CCDS2182.1 r.? - 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- - - - - 42 0 0 19 6 31.6 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.906437137 0.906437137 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 4.01E-10 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 143555569 T C - - - - - - 27 0 0 18 5 27.8 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.797435203 0.797435203 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-08 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 143806165 A C - - - - - - 41 0 0 25 6 24 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.688433269 0.688433269 1 0.756501114 0.756501114 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 144431071 T G ARHGAP15 CCDS2184.1 r.? - - intronic 25 0 0 25 7 28 17 4 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 145123336 A T - 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- - - - - 32 0 0 19 4 21.1 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.605247582 0.605247582 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000228 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 146716864 T G - - - - - - 38 0 0 25 9 36 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 147209181 C T - - - - - - 34 0 0 30 8 26.7 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 147379348 A G - - - - - - 26 0 0 23 8 34.8 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 147405982 A C - - - - - - 39 0 0 42 11 26.2 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.751539652 0.751539652 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 147406830 C G - - - - - - 31 0 0 41 13 31.7 36 13 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.909305609 0.909305609 1 1.247017817 1.247017817 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 147407894 C T - - - - - - 42 0 0 41 15 36.6 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.049860735 1.049860735 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 1.71E-24 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 147407930 A T - - - - - - 40 0 0 40 13 32.5 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.932253385 0.932253385 1 0.711594655 0.711594655 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 147686185 T C - - - - - - 47 0 0 25 11 44 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.26212766 1.26212766 1 0.835951002 0.835951002 1 NA NA 1 NA NA 1 5 NA 1 1 2.04E-19 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 148039621 A T - - - - - - 25 0 0 29 4 13.8 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.39584913 0.39584913 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000134 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 148591943 G C - - - - - - 34 0 0 26 11 42.3 36 12 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 150100530 G T - - - - - - 30 0 0 34 12 35.3 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.0125706 1.0125706 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 150141078 T C - - - - - - 24 0 0 38 16 42.1 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.207626692 1.207626692 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 3.06E-27 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 150165000 G A - - - - - - 34 0 0 25 6 24 29 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.688433269 0.688433269 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.55E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 150352992 G A - - - - - - 31 0 0 24 11 45.8 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.313760155 1.313760155 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-19 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 151156016 G T - - - - - - 41 0 0 33 12 36.4 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 151426758 G T - - - - - - 33 0 0 27 8 29.6 18 5 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 151505023 C A - - - - - - 31 0 0 24 7 29.2 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 0.970670379 0.970670379 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 151527190 A G - - - - - - 28 0 0 29 13 44.8 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.285075435 1.285075435 1 0.915400891 0.915400891 1 NA NA 1 NA NA 1 5 NA 1 1 7.69E-23 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 151732923 C A - - - - - - 34 0 0 29 10 34.5 41 13 31.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 1.095026726 1.095026726 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 1.89E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 152885293 C T CACNB4 CCDS46426.1 r.? - - intronic 28 0 0 36 16 44.4 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.273601547 1.273601547 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 1.01E-27 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 153716734 T G - - - - - - 34 0 0 32 14 43.8 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.256390716 1.256390716 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 154002794 G A - - - - - - 32 0 0 28 12 42.9 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 154010901 A G - - - - - - 33 0 0 26 11 42.3 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 154084070 C G - - - - - - 34 0 0 32 12 37.5 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.732320713 0.732320713 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 154141097 T A - - - - - - 36 0 0 31 11 35.5 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 0.718503341 0.718503341 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 155406968 T C - - - - - - 37 0 0 29 10 34.5 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 156350146 G C - - - - - - 34 0 0 33 11 33.3 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 156884509 T G - - - - - - 31 0 0 23 11 47.8 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.371129594 1.371129594 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 6.25E-20 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 156884510 C T - - - - - - 33 0 0 21 10 47.6 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.36539265 1.36539265 1 0.507788419 0.507788419 1 NA NA 1 NA NA 1 5 NA 1 1 3.28E-18 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 156923815 T C - - - - - - 40 0 0 29 11 37.9 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 157127351 G A - - - - - - 29 0 0 18 5 27.8 22 3 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.797435203 0.797435203 1 0.469790646 0.469790646 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-08 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 158161563 T G GALNT5 CCDS2203.1 r.? - - intronic 29 0 0 28 4 14.3 26 1 3.8 0 0 NA 2 0 0 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.410191489 0.410191489 1 0.131265033 0.131265033 1 0 0 1 NA NA 1 3 NA 1 1 0.0000116 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 158463476 A T ACVR1C CCDS2205.1 r.? - - intronic 30 0 0 23 9 39.1 31 13 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 1.44736971 1.44736971 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 2.32E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 158733898 G T ACVR1 CCDS2206.1 r.? - - upstream 30 0 0 34 6 17.6 19 1 5.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.504851064 0.504851064 1 0.183080178 0.183080178 1 NA NA 1 NA NA 1 3 NA 1 1 1.86E-08 1 0.090843738 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 158733913 G C ACVR1 CCDS2206.1 r.? - - upstream 31 0 0 35 4 11.4 18 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.327005803 0.327005803 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000289 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 159448345 G C PKP4 CCDS33306.1 r.? - - intronic 50 0 0 37 7 18.9 33 12 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 0.682851991 0.682851991 1 1.621380846 0.810690423 2 NA NA 0 NA NA 1 5 NA 1 1 7.05E-10 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 161191364 C T RBMS1 CCDS2213.1 r.? - - intronic 41 0 0 41 20 48.8 29 14 48.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 1.763131068 1.010678994 1.744501546 2.151447661 1.075723831 2 NA NA 0 NA NA 1 5 NA 1 1 2.32E-35 1 4.41E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 161253688 C T RBMS1 CCDS2213.1 r.? - - intronic 34 0 0 39 22 56.4 41 16 39 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 2.037717054 1.168079821 1.744501546 1.737193764 0.868596882 2 NA NA 0 NA NA 1 5 NA 1 1 1.12E-40 1 1.4E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 161621872 T C - - - - - - 44 0 0 27 17 63 38 18 47.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 2.276173305 1.304770013 1.744501546 2.111358575 1.055679287 2 NA NA 0 NA NA 1 5 NA 1 1 6.14E-33 1 1.16E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 161824657 T C - - - - - - 31 0 0 45 6 13.3 52 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 0.480525475 0.645432475 0.744501546 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000108 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 161824658 G T - - - - - - 35 0 0 47 6 12.8 52 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 0.462460608 0.621168096 0.744501546 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000141 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 162121048 C T - - - - - - 48 0 0 43 11 25.6 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 0.924921216 0.924921216 1 1.287305122 1.287305122 1 NA NA 0 NA NA 1 5 NA 1 1 2.42E-16 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 163239717 A C KCNH7 CCDS2219.1 r.? - - intronic 36 0 0 37 18 48.6 36 20 55.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 1.755905121 1.006536867 1.744501546 2.476614699 1.23830735 2 NA NA 0 NA NA 1 5 NA 1 1 6.16E-32 1 6.46E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 163777815 T C - - - - - - 34 0 0 30 20 66.7 26 11 42.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 2.409853324 1.381399363 1.744501546 1.884187082 0.942093541 2 NA NA 0 NA NA 1 5 NA 1 1 2.73E-39 1 3.52E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 163991836 C A - - - - - - 22 0 0 38 21 55.3 35 14 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 1.997974345 1.145298123 1.744501546 1.781737194 0.890868597 2 NA NA 0 NA NA 1 5 NA 1 1 1.27E-38 1 1.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 164101337 C T - - - - - - 41 0 0 32 16 50 27 14 51.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 1.80648675 1.035531756 1.744501546 2.311804009 1.155902004 2 NA NA 0 NA NA 1 5 NA 1 1 8.51E-29 1 1.15E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 164335850 A G - - - - - - 28 0 0 41 10 24.4 50 25 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 0.881565534 0.881565534 1 2.227171492 1.113585746 2 NA NA 0 NA NA 1 5 NA 1 1 9.51E-15 1 3.34E-44 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 165767762 C G SLC38A11 CCDS2224.1 r.? - - intronic 39 0 0 39 22 56.4 35 18 51.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 2.037717054 1.168079821 1.744501546 2.289532294 1.144766147 2 NA NA 0 NA NA 1 5 NA 1 1 1.12E-40 1 1.6E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 165876162 C A - - - - - - 20 0 0 25 11 44 36 13 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 1.58970834 1.58970834 1 1.608017817 0.804008909 2 NA NA 0 NA NA 1 5 NA 1 1 2.04E-19 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 166038285 T A SCN3A CCDS33312.1 r.? - - intronic 40 0 0 35 16 45.7 34 17 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 1.651128889 0.946476025 1.744501546 2.227171492 1.113585746 2 NA NA 0 NA NA 1 5 NA 1 1 5.66E-28 1 1.64E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 167513979 G C - - - - - - 37 0 0 32 8 25 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 0.903243375 0.903243375 1 1.011135857 1.011135857 1 NA NA 0 NA NA 1 5 NA 1 1 3.69E-12 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 168533614 T G - - - - - - 37 0 0 52 5 9.6 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 0.346845456 0.465876072 0.744501546 0.743875278 0.743875278 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000668 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 168570745 T C - - - - - - 46 0 0 40 19 47.5 20 8 40 36 0 0 21 12 57.1 5 0 0 TRUE TRUE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 1.716162412 0.983755169 1.744501546 1.781737194 1.781737194 1 2.063007868 1.182577266 1.744501546 0 0 1 5 5 1 1 2.27E-33 6.88E-23 4.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 168704678 C G B3GALT1 CCDS2227.1 r.? - - intronic 36 0 0 42 24 57.1 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 2.063007868 1.182577266 1.744501546 1.527839644 1.527839644 1 NA NA 0 NA NA 1 5 NA 1 1 1.93E-44 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 169826028 G C ABCB11 CCDS46444.1 r.1968c>g c.1843C>G p.H615D missense 39 0 0 38 7 18.4 34 8 23.5 221 0 0 115 24 20.9 131 29 22.1 TRUE TRUE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 0.664787124 0.664787124 1 1.046770601 1.046770601 1 0.755111461 0.755111461 1 0.9844098 0.9844098 1 5 4 1 1 8.61E-10 1.34E-31 6.32E-12 1.13E-38 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 2 170179541 G A LRP2 CCDS2232.1 r.? - - intronic 45 0 0 33 17 51.5 40 24 60 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 1.860681352 1.066597709 1.744501546 2.672605791 1.336302895 2 NA NA 0 NA NA 1 5 NA 1 1 8.25E-31 1 3.47E-45 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 170818339 A T UBR3 CCDS2238.2 r.? - - intronic 21 0 0 41 17 41.5 20 4 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 1.271505408 1 1 0 0 0.255498454 0.728494592 2 2 0 0 0.744501546 0.271505408 1.499384002 0.859491358 1.744501546 0.745169679 0.745169679 1 NA NA 0 NA NA 1 5 NA 1 1 1.03E-28 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 170995866 G T - - - - - - 26 0 0 43 22 51.2 39 14 35.9 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 1.744501546 1.271505408 1 1 0 0 0.255498454 0.728494592 2 2 0 0 0.744501546 0.271505408 1.849842432 1.060384519 1.744501546 1.337579573 1.337579573 1 NA NA 0 0 0 1 5 NA 1 1 2.27E-39 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 171002716 C G - - - - - - 35 0 0 34 17 50 34 13 38.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 1.271505408 1 1 0 0 0.255498454 0.728494592 2 2 0 0 0.744501546 0.271505408 1.80648675 1.035531756 1.744501546 1.423274086 1.423274086 1 NA NA 0 NA NA 1 5 NA 1 1 1.64E-30 1 1.03E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 171178380 C G MYO3B CCDS42773.1 r.? - - intronic 27 0 0 37 22 59.5 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 1.271505408 1 1 0 0 0.255498454 0.728494592 2 2 0 0 0.744501546 0.271505408 2.149719232 1.23228279 1.744501546 0.640845924 0.640845924 1 NA NA 0 NA NA 1 5 NA 1 1 2.08E-41 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 171979746 G A TLK1 CCDS2241.1 r.? - - intronic 19 0 0 39 17 43.6 32 17 53.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 1.271505408 1 1 0 0 0.255498454 0.728494592 2 2 0 0 0.744501546 0.271505408 1.575256446 0.902983692 1.744501546 1.978425497 1.555970964 1.271505408 NA NA 0 NA NA 1 5 NA 1 1 3.51E-29 1 4.02E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 172169517 C T AC007739.1 ENST00000514012 r.1742c>u - 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- intronic 46 0 0 28 8 28.6 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.721957684 0.721957684 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 213244753 G T ERBB4 CCDS2394.1 r.? - - intronic 29 0 0 38 16 42.1 40 16 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.207626692 1.207626692 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 3.06E-27 1 8.56E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 213442547 C A - - - - - - 46 0 0 30 13 43.3 37 15 40.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.242048356 1.242048356 1 1.399008909 1.399008909 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 2.58E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 213490003 G A - - - - - - 27 0 0 23 6 26.1 33 12 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.74867118 0.74867118 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-09 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 215014545 A C SPAG16 CCDS2396.1 r.? - - intronic 51 0 0 21 7 33.3 17 4 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-12 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 215135905 A G SPAG16 CCDS2396.1 r.? - - intronic 38 0 0 33 10 30.3 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 1.202111359 1.202111359 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 216018119 G T - - - - - - 29 0 0 33 5 15.2 35 2 5.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.436007737 0.436007737 1 0.19689755 0.19689755 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000066 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 216028065 G C - - - - - - 25 0 0 16 4 25 7 1 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.493971047 0.493971047 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000108 1 0.034479353 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 216349941 A G - - - - - - 37 0 0 27 10 37 35 14 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 1.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 216414411 G C - - - - - - 31 0 0 35 9 25.7 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.737197292 0.737197292 1 1.115752784 1.115752784 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 216643893 T C - - - - - - 41 0 0 30 7 23.3 28 3 10.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.668353965 0.668353965 1 0.369614699 0.369614699 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 217645230 C T - - - - - - 22 0 0 30 11 36.7 20 11 55 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 1.899888641 1.899888641 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 7.87E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 217702922 T C - - - - - - 40 0 0 28 11 39.3 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.127309478 1.127309478 1 0.839405345 0.839405345 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 217991624 T G - - - - - - 33 0 0 32 9 28.1 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.806040619 0.806040619 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 218948285 A T RUFY4 CCDS46514.1 r.? - - intronic 17 0 0 40 14 35 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.003965184 1.003965184 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-22 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 219230375 C G C2orf62 CCDS2414.1 r.? - - intronic 33 0 0 28 13 46.4 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.330970986 1.330970986 1 0.835951002 0.835951002 1 NA NA 1 NA NA 1 5 NA 1 1 4.26E-23 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 219300081 G C VIL1 CCDS2417.1 r.1838g>c c.1750G>C p.V584L missense 30 0 0 37 14 37.8 22 7 31.8 211 0 0 125 50 40 6 0 0 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.084282398 1.084282398 1 1.098481069 1.098481069 1 1.147388781 1.147388781 1 0 0 1 5 5 1 1 3.35E-23 1.53E-80 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 220504357 G A SLC4A3 CCDS2446.1 r.3527g>a c.3258G>A p.A1086A silent 22 0 0 27 6 22.2 26 8 30.8 160 0 0 176 73 41.5 2 0 0 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.636800774 0.636800774 1 1.063937639 1.063937639 1 1.190415861 1.190415861 1 0 0 1 5 5 1 1 4.23E-09 2.84E-118 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 220835452 A C - - - - - - 21 0 0 23 10 43.5 10 4 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.2477853 1.2477853 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.05E-17 1 0.000000128 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 221960306 G C - - - - - - 40 0 0 35 12 34.3 23 10 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.98388588 0.98388588 1 1.502639198 1.502639198 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 1.05E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 222966458 C A - - - - - - 28 0 0 41 18 43.9 41 21 51.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.698259188 0.849129594 2 2.280623608 1.140311804 2 NA NA 1 NA NA 1 5 NA 1 1 6.91E-31 1 1.17E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 223107460 G T PAX3 CCDS42826.1 r.? - - intronic 36 0 0 39 20 51.3 42 14 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.984526112 0.992263056 2 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 6E-36 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 223310911 G A SGPP2 CCDS2453.1 r.? - - intronic 41 0 0 42 22 52.4 31 15 48.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.027079304 1.013539652 2 2.155902004 1.077951002 2 NA NA 1 NA NA 1 5 NA 1 1 1.11E-39 1 8.51E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 224373087 G C - - - - - - 36 0 0 45 23 51.1 42 21 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.976789168 0.988394584 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 4.42E-41 1 2.32E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 224945204 G C - - - - - - 45 0 0 41 26 63.4 35 14 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.452611219 1.226305609 2 1.781737194 0.890868597 2 NA NA 1 NA NA 1 5 NA 1 1 8.79E-50 1 1.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 225000055 C T - - - - - - 19 0 0 33 20 60.6 32 15 46.9 0 0 NA 0 0 NA 1 1 100 TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.344294004 1.172147002 2 2.08908686 1.04454343 2 NA NA 1 4.454342984 4.454342984 1 5 NA 1 1 5.14E-38 1 1.59E-26 0.005 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 225080095 T C - - - - - - 36 0 0 36 22 61.1 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.363636364 1.181818182 2 1.563474388 0.781737194 2 NA NA 1 NA NA 1 5 NA 1 1 8.46E-42 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 225258221 G A FAM124B CCDS2461.1 r.? - - intronic 35 0 0 47 14 29.8 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.152804642 1.152804642 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 225574764 C A - - - - - - 28 0 0 41 17 41.5 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.605415861 0.80270793 2 1.750556793 0.875278396 2 NA NA 1 NA NA 1 5 NA 1 1 1.03E-28 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 225952409 A C - - - - - - 31 0 0 38 20 52.6 22 10 45.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.034816248 1.017408124 2 2.026726058 1.013363029 2 NA NA 1 NA NA 1 5 NA 1 1 2.94E-36 1 5.98E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 226083644 T C - - - - - - 35 0 0 36 19 52.8 36 12 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.042553191 1.021276596 2 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-34 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 226100469 A T - - - - - - 29 0 0 32 18 56.2 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.174081238 1.087040619 2 1.305122494 1.305122494 1 NA NA 1 NA NA 1 5 NA 1 1 1.68E-33 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 226509767 G T KIAA1486 CCDS46529.1 r.? - - intronic 34 0 0 32 14 43.8 23 9 39.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.694390716 0.847195358 2 1.741648107 0.870824053 2 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 1.5E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 226922223 C T - - - - - - 38 0 0 33 17 51.5 33 17 51.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.992263056 0.996131528 2 2.293986637 1.146993318 2 NA NA 1 NA NA 1 5 NA 1 1 8.25E-31 1 8.25E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 227002295 C G - - - - - - 35 0 0 52 25 48.1 37 16 43.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.86073501 0.930367505 2 1.924276169 0.962138085 2 NA NA 1 NA NA 1 5 NA 1 1 1.25E-43 1 1.78E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 227792743 C T RHBDD1 CCDS2464.1 r.? - - intronic 39 0 0 37 17 45.9 30 12 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.775628627 0.887814313 2 1.781737194 0.890868597 2 NA NA 1 NA NA 1 5 NA 1 1 1.1E-29 1 1.94E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 227998467 G C COL4A4 CCDS42828.1 r.? - - intronic 30 0 0 43 20 46.5 25 9 36 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.798839458 0.899419729 2 1.603563474 1.603563474 1 NA NA 1 NA NA 1 5 NA 1 1 8.21E-35 1 3.71E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 228050012 G A COL4A3 CCDS42829.1 r.? - - intronic 36 0 0 41 18 43.9 33 13 39.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.698259188 0.849129594 2 1.755011136 0.877505568 2 NA NA 1 NA NA 1 5 NA 1 1 6.91E-31 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 228443351 A C - - - - - - 39 0 0 41 27 65.9 37 20 54.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.549323017 1.274661509 2 2.409799555 1.204899777 2 NA NA 1 NA NA 1 5 NA 1 1 2.45E-52 1 1.4E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 230138689 T C PID1 CCDS2471.1 r.? - - upstream 33 0 0 36 17 47.2 33 15 45.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.825918762 0.912959381 2 2.026726058 1.013363029 2 NA NA 1 NA NA 1 5 NA 1 1 6E-30 1 2.91E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 231167888 A G SP140 CCDS42831.1 r.? - - intronic 35 0 0 37 22 59.5 35 13 37.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.301740812 1.150870406 2 1.652561247 0.826280624 2 NA NA 1 NA NA 1 5 NA 1 1 2.08E-41 1 1.63E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 231432057 G T - - - - - - 38 0 0 34 18 52.9 30 15 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.046421663 1.023210832 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 7.79E-33 1 4.41E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 231790058 G T GPR55 CCDS2480.1 r.? - - upstream 22 0 0 40 16 40 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.547388781 0.773694391 2 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 8.56E-27 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 232307458 G A - - - - - - 23 0 0 35 24 68.6 31 17 54.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.65377176 1.32688588 2 2.440979955 1.220489978 2 NA NA 1 NA NA 1 5 NA 1 1 2.36E-47 1 1.89E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 232422798 A G - - - - - - 27 0 0 31 11 35.5 20 4 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.373307544 1.373307544 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 232639188 C T PDE6D CCDS33398.1 r.? - - intronic 37 0 0 32 18 56.2 39 22 56.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.174081238 1.087040619 2 2.512249443 1.256124722 2 NA NA 1 NA NA 1 5 NA 1 1 1.68E-33 1 1.12E-40 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 233516529 C G EFHD1 CCDS2497.1 r.? - - intronic 32 0 0 44 24 54.5 27 11 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.108317215 1.054158607 2 1.812917595 0.906458797 2 NA NA 1 NA NA 1 5 NA 1 1 9.53E-44 1 5.92E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 233969362 T C INPP5D ENST00000359570 r.? - - intronic 26 0 0 45 23 51.1 42 19 45.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.976789168 0.988394584 2 2.013363029 1.006681514 2 NA NA 1 NA NA 1 5 NA 1 1 4.42E-41 1 7.64E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 234765366 T A HJURP CCDS33406.1 r.? - - upstream 23 0 0 44 25 56.8 40 23 57.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.19729207 1.098646035 2 2.561247216 1.280623608 2 NA NA 1 NA NA 1 5 NA 1 1 3.83E-46 1 9.75E-43 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 234837973 G A TRPM8 CCDS33407.1 r.? - - intronic 28 0 0 35 18 51.4 40 17 42.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.988394584 0.994197292 2 1.893095768 0.946547884 2 NA NA 1 NA NA 1 5 NA 1 1 1.6E-32 1 6.07E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 235784757 T C - - - - - - 32 0 0 42 6 14.3 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 7.02E-08 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 235908502 G A SH3BP4 CCDS2513.1 r.? - - intronic 39 0 0 51 28 54.9 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.123791103 1.061895551 2 1.523385301 1.523385301 1 NA NA 1 NA NA 1 5 NA 1 1 6.56E-51 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 236760111 G C AGAP1 CCDS33408.1 r.? - - intronic 26 0 0 38 25 65.8 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.545454545 1.272727273 2 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-48 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 237231728 G A IQCA1 CCDS46549.1 r.? - - downstream 42 0 0 46 31 67.4 41 17 41.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.607350097 1.303675048 2 1.848552339 0.924276169 2 NA NA 1 NA NA 1 5 NA 1 1 2.22E-60 1 1.03E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 237416966 C A IQCA1 CCDS46549.1 r.? - - upstream 20 0 0 45 23 51.1 35 16 45.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.976789168 0.988394584 2 2.035634744 1.017817372 2 NA NA 1 NA NA 1 5 NA 1 1 4.42E-41 1 5.66E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 237524824 G C - - - - - - 28 0 0 41 9 22 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 237816963 C T - - - - - - 26 0 0 42 17 40.5 44 16 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.566731141 0.783365571 2 1.621380846 0.810690423 2 NA NA 1 NA NA 1 5 NA 1 1 1.73E-28 1 5.57E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 238266448 G T COL6A3 CCDS33412.1 r.? - - intronic 34 0 0 48 29 60.4 35 19 54.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.33655706 1.16827853 2 2.418708241 1.20935412 2 NA NA 1 NA NA 1 5 NA 1 1 1.96E-54 1 7.18E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 238266449 C G COL6A3 CCDS33412.1 r.? - - intronic 33 0 0 50 29 58 36 19 52.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.243713733 1.121856867 2 2.351893096 1.175946548 2 NA NA 1 NA NA 1 5 NA 1 1 1.13E-53 1 1.51E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 238330777 T C ENSG00000222022 ENST00000409162 r.158a>g c.11A>G p.E4G missense 30 0 0 37 21 56.8 28 8 28.6 153 1 0.7 102 44 43.1 17 15 88.2 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.19729207 1.098646035 2 1.273942094 1.273942094 1 1.667311412 0.833655706 2 3.928730512 1.964365256 2 5 4 1 0.535558142 5.69E-39 6.58E-73 1.11E-12 4.11E-33 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 238787630 T C RAMP1 CCDS2522.1 r.? - - intronic 27 0 0 30 17 56.7 27 13 48.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.193423598 1.096711799 2 2.142538976 1.071269488 2 NA NA 1 NA NA 1 5 NA 1 1 8.59E-32 1 2.29E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 239149522 C G PER2 CCDS2528.1 r.? - - downstream 20 0 0 17 8 47.1 3 1 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.82205029 0.911025145 2 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 9.12E-15 1 0.014925125 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 239182565 C A PER2 CCDS2528.1 r.? - - intronic 30 0 0 37 14 37.8 32 13 40.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.462282398 1.462282398 1 1.808463252 0.904231626 2 NA NA 1 NA NA 1 5 NA 1 1 3.35E-23 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 239221445 C G - - - - - - 23 0 0 24 12 50 24 9 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.934235977 0.967117988 2 1.670378619 1.670378619 1 NA NA 1 NA NA 1 5 NA 1 1 6.25E-22 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 239541247 G T - - - - - - 26 0 0 33 18 54.5 30 14 46.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.108317215 1.054158607 2 2.080178174 1.040089087 2 NA NA 1 NA NA 1 5 NA 1 1 3.68E-33 1 8.24E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 239782153 G T ENSG00000233608 CCDS46558.1 r.? - - intronic 23 0 0 37 22 59.5 33 13 39.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.301740812 1.150870406 2 1.755011136 0.877505568 2 NA NA 1 NA NA 1 5 NA 1 1 2.08E-41 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 240561957 G A - - - - - - 38 0 0 29 11 37.9 30 12 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.46615087 1.46615087 1 1.781737194 0.890868597 2 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 1.94E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 240728783 T C ENSG00000220256 ENST00000407524 r.? - - downstream 20 0 0 30 12 40 30 14 46.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.547388781 1.547388781 1 2.080178174 1.040089087 2 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 8.24E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 241040767 A C - - - - - - 25 0 0 39 7 17.9 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 241179200 G T - - - - - - 33 0 0 42 19 45.2 36 18 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.748549323 0.874274662 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 7.64E-33 1 3.18E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 544094 A C - - - - - - 27 0 0 25 7 28 17 5 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 1.84E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 547423 T A - - - - - - 39 0 0 30 11 36.7 18 7 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 1.343739421 1.343739421 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 2.37E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 672286 G T - - - - - - 40 0 0 29 5 17.2 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.493377176 0.493377176 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000336 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 1455856 A C SIRPB2 CCDS42849.1 r.2022u>g c.? p.? 3'UTR variant 29 0 0 25 9 36 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 1606782 G T SIRPG CCDS13020.2 r.? - - downstream 31 0 0 34 13 38.2 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.095756286 1.095756286 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 2060938 A G - - - - - - 37 0 0 27 10 37 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 1.278106904 1.278106904 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 4288157 C T - - - - - - 45 0 0 43 17 39.5 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 2 1 2 0 0 1 1 NA NA NA NA NA NA 1.133046422 1.133046422 1 1.44766147 1.44766147 1 NA NA 0 NA NA 1 5 NA 1 1 2.84E-28 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 4685799 C T PRNP CCDS13080.1 r.? - - downstream 24 0 0 36 6 16.7 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 2 1 2 0 0 1 1 NA NA NA NA NA NA 0.479034816 0.479034816 1 0.743875278 0.743875278 1 NA NA 0 NA NA 1 5 NA 1 1 2.68E-08 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 5404718 C G - - - - - - 35 0 0 31 13 41.9 21 4 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 0.656325167 0.656325167 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 5966457 G A MCM8 CCDS13094.1 r.? - - intronic 36 0 0 43 21 48.8 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.399814313 1.399814313 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 4.52E-37 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 6130792 G A - - - - - - 45 0 0 30 11 36.7 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 0.607964365 0.607964365 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 6759084 C A BMP2 CCDS13099.1 r.1758c>a c.539C>A p.A180E missense 38 0 0 43 12 27.9 27 11 40.7 226 0 0 87 25 28.7 77 30 39 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.800303675 0.800303675 1 1.405917595 1.405917595 1 0.823251451 0.823251451 1 1.347193764 1.347193764 1 5 4 1 1 3.24E-18 9.55E-37 5.92E-19 1.57E-48 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 20 6969973 G A - - - - - - 34 0 0 37 9 24.3 35 17 48.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.697038685 0.697038685 1 1.67881069 1.67881069 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 3.18E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 7376697 A G - - - - - - 32 0 0 32 12 37.5 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 8138132 T C PLCB1 CCDS13103.1 r.? - - intronic 41 0 0 39 16 41 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.176073501 1.176073501 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.16E-27 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 8163522 C A PLCB1 CCDS13103.1 r.? - - intronic 25 0 0 22 8 36.4 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-13 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 8794887 G A PLCB1 CCDS13103.1 r.? - - intronic 37 0 0 30 10 33.3 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.832496659 0.832496659 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 9430359 G A PLCB4 CCDS13104.1 r.? - - intronic 35 0 0 38 9 23.7 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.679827853 0.679827853 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 9776953 T C PAK7 CCDS13107.1 r.? - - intronic 35 0 0 29 8 27.6 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 9860726 C A - - - - - - 24 0 0 28 7 25 16 5 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 0.000000013 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 9862602 A C - - - - - - 30 0 0 33 12 36.4 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 0.55614922 0.55614922 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 9890716 G T - - - - - - 41 0 0 27 6 22.2 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.636800774 0.636800774 1 1.115752784 1.115752784 1 NA NA 1 NA NA 1 5 NA 1 1 4.23E-09 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 12496882 A C - - - - - - 37 0 0 51 31 60.8 42 20 47.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 2.227710268 1.2407012 1.795525197 2.120267261 1.06013363 2 NA NA 0 NA NA 1 5 NA 1 1 3.28E-58 1 4.41E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 12496887 A G - - - - - - 37 0 0 52 31 59.6 41 20 48.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 2.183742302 1.216213677 1.795525197 2.173719376 1.086859688 2 NA NA 0 NA NA 1 5 NA 1 1 8.07E-58 1 2.32E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 12533490 C A - - - - - - 29 0 0 39 6 15.4 48 11 22.9 0 0 NA 1 0 0 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 0.564255561 0.564255561 1 1.020044543 1.020044543 1 0 NA 0 NA NA 1 5 NA 1 1 4.43E-08 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 12537606 T A - - - - - - 37 0 0 37 20 54.1 45 27 60 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.982222459 1.103979193 1.795525197 2.672605791 1.336302895 2 NA NA 0 NA NA 1 5 NA 1 1 1.4E-36 1 1.17E-50 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 13626852 G C - - - - - - 30 0 0 46 26 56.5 34 17 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 2.07015839 1.152954241 1.795525197 2.227171492 1.113585746 2 NA NA 0 NA NA 1 5 NA 1 1 7.59E-48 1 1.64E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 14256834 T G MACROD2 CCDS13120.2 r.? - - intronic 29 0 0 30 15 50 36 23 63.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.831998575 1.020313487 1.795525197 2.846325167 1.423162584 2 NA NA 0 NA NA 1 5 NA 1 1 4.41E-27 1 2.59E-44 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 14491231 C G MACROD2 CCDS13120.2 r.? - - intronic 33 0 0 48 18 37.5 36 16 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.373998932 1.373998932 1 1.977728285 0.988864143 2 NA NA 0 NA NA 1 5 NA 1 1 2.42E-29 1 1.01E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 15240128 T G MACROD2 CCDS13120.2 r.? - - intronic 34 0 0 31 4 12.9 22 0 0 134 0 0 67 8 11.9 295 0 0 TRUE TRUE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 0.472655632 0.472655632 1 0 0 1 0.436015661 0.548085293 0.795525197 0 0 1 3 3 1 1 0.0000177 1.96E-09 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9776b 20 15374131 T A MACROD2 CCDS13120.2 r.? - - intronic 33 0 0 26 10 38.5 45 21 46.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.410638903 1.410638903 1 2.080178174 1.040089087 2 NA NA 0 NA NA 1 5 NA 1 1 4.82E-17 1 1.6E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 15652288 G C MACROD2 CCDS13120.2 r.? - - intronic 26 0 0 37 21 56.8 34 17 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 2.081150382 1.159076121 1.795525197 2.227171492 1.113585746 2 NA NA 0 NA NA 1 5 NA 1 1 5.69E-39 1 1.64E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 16593662 G T - - - - - - 28 0 0 40 20 50 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.831998575 1.020313487 1.795525197 1.648106904 1.648106904 1 NA NA 0 NA NA 1 5 NA 1 1 1.19E-35 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 16807306 C T - - - - - - 29 0 0 33 18 54.5 26 18 69.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.996878447 1.112141701 1.795525197 3.082405345 1.541202673 2 NA NA 0 NA NA 1 5 NA 1 1 3.68E-33 1 5.74E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 16857228 T A - - - - - - 36 0 0 39 23 59 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 2.161758319 1.203969915 1.795525197 1.336302895 1.336302895 1 NA NA 0 NA NA 1 5 NA 1 1 4.16E-43 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 17085847 C G - - - - - - 46 0 0 40 17 42.5 34 13 38.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.557198789 0.867266464 1.795525197 1.70155902 0.85077951 2 NA NA 0 NA NA 1 5 NA 1 1 6.07E-29 1 1.03E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 17103053 C G - - - - - - 28 0 0 32 15 46.9 44 29 65.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.718414664 0.957054051 1.795525197 2.935412027 1.467706013 2 NA NA 0 NA NA 1 5 NA 1 1 1.59E-26 1 3.98E-56 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 17153544 A T - - - - - - 30 0 0 36 20 55.6 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 2.037182416 1.134588598 1.795525197 1.670378619 0.83518931 2 NA NA 0 NA NA 1 5 NA 1 1 6.46E-37 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 17203434 A G PCSK2 CCDS13125.1 r.? - - upstream 45 0 0 37 16 43.2 37 15 40.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.582846769 0.881550853 1.795525197 1.804008909 0.902004454 2 NA NA 0 NA NA 1 5 NA 1 1 1.78E-27 1 2.58E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 17427308 G C PCSK2 CCDS13125.1 r.? - - intronic 37 0 0 43 18 41.9 40 20 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.535214806 0.855022702 1.795525197 2.227171492 1.113585746 2 NA NA 0 NA NA 1 5 NA 1 1 2.06E-30 1 1.19E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 18147301 G C CSRP2BP CCDS13133.1 r.? - - intronic 30 0 0 38 11 28.9 29 13 44.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.058895177 1.058895177 1 1.995545657 0.997772829 2 NA NA 0 NA NA 1 5 NA 1 1 5.19E-17 1 7.69E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 18703632 A T DTD1 CCDS13138.1 r.? - - intronic 33 0 0 42 18 42.9 28 16 57.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.571854778 0.875428972 1.795525197 2.543429844 1.271714922 2 NA NA 0 NA NA 1 5 NA 1 1 1.2E-30 1 4.39E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 18875576 A T - - - - - - 23 0 0 47 26 55.3 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 2.026190424 1.128466717 1.795525197 1.273942094 1.273942094 1 NA NA 0 NA NA 1 5 NA 1 1 1.69E-47 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 20630853 T C RALGAPA2 CCDS46584.1 r.? - - intronic 43 0 0 27 15 55.6 42 18 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 2.037182416 1.134588598 1.795525197 1.91091314 0.95545657 2 NA NA 0 NA NA 1 5 NA 1 1 5.01E-28 1 1.2E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 20941640 G T - - - - - - 42 0 0 56 26 46.4 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.700094678 0.946850916 1.795525197 1.590200445 1.590200445 1 NA NA 0 NA NA 1 5 NA 1 1 8.57E-45 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 21031449 G T - - - - - - 36 0 0 35 13 37.1 28 13 46.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.359342943 1.359342943 1 2.066815145 1.033407572 2 NA NA 0 NA NA 1 5 NA 1 1 1.63E-21 1 4.26E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 21301493 G A XRN2 CCDS13144.1 r.? - - intronic 25 0 0 37 15 40.5 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.483918846 1.483918846 1 1.670378619 0.83518931 2 NA NA 0 NA NA 1 5 NA 1 1 2.58E-25 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 21632102 A T - - - - - - 44 0 0 52 29 55.8 38 14 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 2.04451041 1.138669852 1.795525197 1.639198218 0.819599109 2 NA NA 0 NA NA 1 5 NA 1 1 5.88E-53 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 22044252 A T - - - - - - 38 0 0 38 15 39.5 36 18 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.447278875 1.447278875 1 2.227171492 1.113585746 2 NA NA 0 NA NA 1 5 NA 1 1 4.24E-25 1 3.18E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 22475932 T A - - - - - - 35 0 0 42 16 38.1 38 14 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.395982914 1.395982914 1 1.639198218 0.819599109 2 NA NA 0 NA NA 1 5 NA 1 1 2.25E-26 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 22514907 C G - - - - - - 41 0 0 31 14 45.2 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.656126712 0.922363392 1.795525197 1.429844098 1.429844098 1 NA NA 0 NA NA 1 5 NA 1 1 1.49E-24 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 22880504 G A - - - - - - 25 0 0 30 16 53.3 36 14 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.952910481 1.087654177 1.795525197 1.732739421 0.86636971 2 NA NA 0 NA NA 1 5 NA 1 1 2.08E-29 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 22923427 C G - - - - - - 38 0 0 44 27 61.4 38 14 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 2.249694251 1.252944962 1.795525197 1.639198218 0.819599109 2 NA NA 0 NA NA 1 5 NA 1 1 4.71E-51 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 23059040 T G CD93 CCDS13149.1 r.? - - downstream 44 1 2.3 33 12 36.4 31 13 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.333694963 1.333694963 1 1.86636971 0.933184855 2 NA NA 0 NA NA 1 5 NA 0.197923942 1 7.86E-20 1 2.32E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 23483998 G A - - - - - - 32 0 0 40 17 42.5 38 17 44.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.557198789 0.867266464 1.795525197 1.991091314 0.995545657 2 NA NA 0 NA NA 1 5 NA 1 1 6.07E-29 1 1.99E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 23563203 C A - - - - - - 31 0 0 36 18 50 26 14 53.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.831998575 1.020313487 1.795525197 2.396436526 1.198218263 2 NA NA 0 NA NA 1 5 NA 1 1 3.18E-32 1 5.57E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 23854219 T C CST5 CCDS13162.1 r.? - - downstream 35 0 0 27 15 55.6 34 21 61.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 2.037182416 1.134588598 1.795525197 2.752783964 1.376391982 2 NA NA 0 NA NA 1 5 NA 1 1 5.01E-28 1 4.16E-40 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 23867622 T G - - - - - - 40 0 0 33 21 63.6 38 16 42.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 2.330302188 1.297838756 1.795525197 1.875278396 0.937639198 2 NA NA 0 NA NA 1 5 NA 1 1 1.6E-40 1 3.06E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 23868434 G T - - - - - - 25 0 0 35 13 37.1 36 13 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.359342943 1.359342943 1 1.608017817 0.804008909 2 NA NA 0 NA NA 1 5 NA 1 1 1.63E-21 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 23929081 T G - - - - - - 35 0 0 36 17 47.2 33 15 45.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.729406655 0.963175932 1.795525197 2.026726058 1.013363029 2 NA NA 0 NA NA 1 5 NA 1 1 6E-30 1 2.91E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 23988727 G T - - - - - - 21 0 0 35 17 48.6 31 13 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 1.780702615 0.99174471 1.795525197 1.86636971 0.933184855 2 NA NA 0 NA NA 1 5 NA 1 1 3.18E-30 1 2.32E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 24191287 A T - - - - - - 28 0 0 21 8 38.1 31 12 38.7 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.092887814 1.092887814 1 1.336830735 1.336830735 1 NA NA 1 0 0 1 5 NA 1 1 7.5E-14 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 24441579 A C - - - - - - 28 0 0 21 6 28.6 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.181385301 1.181385301 1 NA NA 1 NA NA 1 5 NA 1 1 7.95E-10 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 24504125 G T TMEM90B CCDS13164.1 r.? - - intronic 43 0 0 16 7 43.8 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.256390716 1.256390716 1 0.476699332 0.476699332 1 NA NA 1 NA NA 1 5 NA 1 1 8.59E-13 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 24546032 G T TMEM90B CCDS13164.1 r.? - - intronic 31 0 0 26 12 46.2 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.325234043 1.325234043 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-21 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 24878923 C T - - - - - - 28 0 0 31 11 35.5 14 5 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 6.03E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 26222600 C T - - - - - - 31 0 0 30 9 30 23 4 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 0.601055679 0.601055679 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 29914280 T G - - - - - - 36 0 0 32 7 21.9 21 8 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.628195358 0.628195358 1 1.316104677 1.316104677 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 7.5E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 30198901 T G ID1 CCDS13186.1 r.? - - downstream 17 0 0 25 4 16 18 2 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.458955513 0.458955513 1 0.383432071 0.383432071 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000727 1 0.003626632 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 31136610 C G C20orf112 ENST00000201961 r.? - - intronic 37 0 0 30 10 33.3 21 7 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 8.54E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 31552552 A T EFCAB8 CCDS46588.1 r.? - - downstream 31 0 0 23 12 52.2 33 13 39.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.49734236 1.49734236 1 1.361011136 1.361011136 1 NA NA 1 NA NA 1 5 NA 1 1 3.14E-22 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 31707916 G A C20orf186 ENST00000397905 r.? - - downstream 25 0 0 24 9 37.5 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 32375528 G C ZNF341 CCDS13227.1 r.? - - intronic 31 0 0 24 8 33.3 16 6 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-13 1 1.2E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 32482896 C T - - - - - - 35 0 0 33 12 36.4 16 6 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 1.2E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 32492276 G C - - - - - - 33 0 0 18 6 33.3 19 5 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.908492205 0.908492205 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-10 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 34037254 A T GDF5 CCDS13254.1 r.? - - intronic 22 0 0 36 9 25 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 34044809 G A CEP250 CCDS13255.1 r.? - - intronic 23 0 0 32 10 31.2 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 34789498 G T EPB41L1 CCDS13271.1 r.? - - intronic 34 0 0 46 8 17.4 33 3 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.67311412 0.67311412 1 0.405345212 0.405345212 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-11 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 35364575 G C NDRG3 CCDS13285.1 r.? - - intronic 26 0 0 36 6 16.7 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 35548318 A C SAMHD1 CCDS13288.1 r.? - - intronic 31 0 0 22 5 22.7 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 7.67E-08 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 35645962 C T RBL1 CCDS13289.1 r.? - - intronic 24 0 0 36 11 30.6 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 35740180 A G C20orf132 ENST00000343811 r.? - - intronic 39 0 0 48 10 20.8 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 5.37E-14 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 35888125 A T GHRH CCDS13292.1 r.? - - intronic 24 0 0 43 8 18.6 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 36161012 T A BLCAP CCDS13295.1 r.? - - upstream 33 0 0 36 12 33.3 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 36336811 T A CTNNBL1 CCDS13298.1 r.? - - intronic 27 0 0 36 11 30.6 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 37003673 C G LBP CCDS13304.1 r.? - - intronic 29 0 0 31 4 12.9 49 1 2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.499032882 0.499032882 1 0.08908686 0.08908686 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000177 1 0.217776325 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 37339523 G T - - - - - - 24 0 0 39 11 28.2 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 1.318485523 1.318485523 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 37377084 C G ACTR5 CCDS13308.1 r.? - - upstream 31 0 0 41 14 34.1 7 0 0 52 1 1.9 109 26 23.9 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 0 0 1 0.924564797 0.924564797 1 NA NA 1 5 NA 1 0.229451111 1.9E-22 9.06E-36 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 37716843 A G - - - - - - 37 0 0 42 12 28.6 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 37769049 T A - - - - - - 34 0 0 49 11 22.4 54 11 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.866537718 0.866537718 1 0.908685969 0.908685969 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 3.84E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 37918133 T A - - - - - - 28 0 0 37 7 18.9 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 38033008 C A - - - - - - 30 0 0 35 7 20 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 38182559 C A - - - - - - 40 0 0 46 5 10.9 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.421663443 0.421663443 1 1.011135857 1.011135857 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000361 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 38226397 C A - - - - - - 27 0 0 36 10 27.8 32 2 6.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 0.276169265 0.276169265 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 38357814 G A - - - - - - 28 0 0 41 7 17.1 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 38558562 G T - - - - - - 37 0 0 43 17 39.5 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.528046422 1.528046422 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 2.84E-28 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 38699447 A C - - - - - - 45 0 0 27 10 37 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.431334623 1.431334623 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 39114015 C A - - - - - - 31 0 0 40 8 20 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 39147491 A T - - - - - - 36 0 0 38 12 31.6 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 39356965 C T - - - - - - 39 0 0 39 9 23.1 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 39378686 G A - - - - - - 34 0 0 56 19 33.9 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.311411992 1.311411992 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 6.79E-30 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 39447978 C A - - - - - - 33 0 0 34 9 26.5 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 1.300668151 1.300668151 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 39664162 G T TOP1 CCDS13312.1 r.? - - intronic 34 0 0 50 10 20 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 8.36E-14 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 39812316 C T ZHX3 CCDS13315.1 r.4764g>a c.? p.? 3'UTR variant 28 0 0 43 9 20.9 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.808510638 0.808510638 1 1.648106904 1.648106904 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 39897468 T A ZHX3 CCDS13315.1 r.? - - intronic 34 0 0 39 11 28.2 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 40041938 C T CHD6 CCDS13317.1 r.? - - intronic 35 0 0 44 17 38.6 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.493230174 1.493230174 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 4.61E-28 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 40277980 A T - - - - - - 34 0 0 28 5 17.9 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000279 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 40608750 G A - - - - - - 54 0 0 29 6 20.7 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.800773694 0.800773694 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 40749272 T G PTPRT CCDS42874.1 r.? - - intronic 30 0 0 49 11 22.4 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.866537718 0.866537718 1 1.407572383 1.407572383 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 40752218 C T PTPRT CCDS42874.1 r.? - - intronic 24 0 0 41 8 19.5 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.754352031 0.754352031 1 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 40790881 G A PTPRT CCDS42874.1 r.? - - intronic 28 0 0 43 9 20.9 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.808510638 0.808510638 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 41157285 G C PTPRT CCDS42874.1 r.? - - intronic 31 0 0 40 11 27.5 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 41188175 A G PTPRT CCDS42874.1 r.? - - intronic 28 0 0 43 15 34.9 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.350096712 1.350096712 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 4.05E-24 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 41305863 C A PTPRT CCDS42874.1 r.? - - intronic 20 0 0 41 10 24.4 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 41545793 G T PTPRT CCDS42874.1 r.? - - intronic 25 0 0 37 10 27 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 41780330 C A PTPRT CCDS42874.1 r.? - - intronic 29 0 0 39 8 20.5 32 9 28.1 0 0 NA 2 2 100 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.251670379 1.251670379 1 3.868471954 3.868471954 1 NA NA 1 5 NA 1 1 2.09E-11 0.000025 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 41893682 G A - - - - - - 25 0 0 43 7 16.3 18 6 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.630560928 0.630560928 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.15E-09 1 2.75E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 41994532 A G - - - - - - 19 0 0 35 8 22.9 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 42066742 G A - - - - - - 35 0 0 41 12 29.3 28 3 10.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 0.476614699 0.476614699 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 42198064 A T SGK2 CCDS13320.1 r.667a>u c.448A>T p.N150Y missense 19 0 0 36 10 27.8 45 9 20 196 0 0 215 61 28.4 156 12 7.7 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 0.890868597 0.890868597 1 1.098646035 1.098646035 1 0.34298441 0.34298441 1 5 5 1 1 2.21E-15 6E-87 1.47E-12 3.53E-11 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 20 42795479 C G JPH2 CCDS13325.1 r.? - - intronic 20 0 0 46 12 26.1 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.00967118 1.00967118 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 42835136 T G C20orf111 CCDS13327.1 r.? - - intronic 39 0 0 34 8 23.5 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 43038697 G T HNF4A CCDS13330.1 r.? - - intronic 26 0 0 30 9 30 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 43145758 A T SERINC3 CCDS13333.1 r.? - - intronic 35 0 0 35 9 25.7 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 43417049 C A RIMS4 CCDS13338.1 r.? - - intronic 46 0 0 36 11 30.6 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 43609687 G C STK4 CCDS13341.1 r.? - - intronic 34 0 0 38 8 21.1 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 43856242 G A SEMG2 CCDS13346.1 r.? - - downstream 43 0 0 37 10 27 40 4 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 43993021 T G SYS1 CCDS13351.1 r.? - - intronic 31 0 0 44 12 27.3 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 44392827 G T WFDC3 ENST00000339259 r.? - - intronic 31 0 0 38 14 36.8 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.423597679 1.423597679 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 44729034 A C - - - - - - 12 0 0 45 18 40 45 11 24.4 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.547388781 1.547388781 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 5.76E-30 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 44799168 C A CDH22 CCDS13395.1 r.? - - downstream 32 0 0 28 8 28.6 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.523385301 1.523385301 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 45372266 C A - - - - - - 40 0 0 31 10 32.3 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 45594371 C T EYA2 CCDS13403.1 r.? - - intronic 32 0 0 30 8 26.7 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 45931963 G T ZMYND8 CCDS46613.1 r.? - - intronic 22 0 0 43 15 34.9 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.350096712 1.350096712 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 4.05E-24 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 46069185 G A - - - - - - 22 0 0 45 10 22.2 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 46541241 C A - - - - - - 27 0 0 28 5 17.9 22 3 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 0.605790646 0.605790646 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000279 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 46634219 C T - - - - - - 33 0 0 44 7 15.9 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.615087041 0.615087041 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 46832072 G C - - - - - - 23 0 0 34 7 20.6 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 46993789 G A - - - - - - 33 0 0 28 11 39.3 32 9 28.1 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.520309478 1.520309478 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 47064468 C T - - - - - - 44 0 0 48 11 22.9 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 5 NA 1 1 9.31E-16 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 47219021 A C - - - - - - 26 0 0 37 8 21.6 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 47296456 A T PREX1 CCDS13410.1 r.? - - intronic 29 0 0 30 7 23.3 17 4 23.5 0 0 NA 1 1 100 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.046770601 1.046770601 1 3.868471954 3.868471954 1 NA NA 1 5 NA 1 1 1.44E-10 0.005 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 47410666 C A PREX1 CCDS13410.1 r.? - - intronic 27 0 0 33 7 21.2 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 47419475 A G PREX1 CCDS13410.1 r.? - - intronic 21 0 0 23 6 26.1 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.00967118 1.00967118 1 0.659242762 0.659242762 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-09 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 47830616 A G - - - - - - 40 0 0 34 9 26.5 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 47890506 C A ZNFX1 CCDS13417.1 r.? - - intronic 39 0 0 39 12 30.8 48 12 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 48022591 A T KCNB1 CCDS13418.1 r.? - - intronic 33 0 0 25 10 40 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.547388781 1.547388781 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 48104666 G A ENSG00000232674 ENST00000433116 r.? - - upstream 31 0 0 30 9 30 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.438752784 1.438752784 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 48165795 G T PTGIS CCDS13419.1 r.? - - intronic 25 0 0 38 16 42.1 59 13 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.049626692 1.024813346 2 1.199955457 1.199955457 1 NA NA 1 NA NA 1 5 NA 1 1 3.06E-27 1 3.99E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 48833320 A G - - - - - - 33 0 0 43 9 20.9 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.017510638 1.017510638 1 1.058142539 1.058142539 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 49093853 C G - - - - - - 31 0 0 51 8 15.7 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.764350097 0.764350097 1 0.970873051 0.970873051 1 NA NA 1 NA NA 1 5 NA 1 1 2.05E-10 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 49104344 A T - - - - - - 31 0 0 62 13 21 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.02237911 1.02237911 1 1.472672606 1.472672606 1 NA NA 1 NA NA 1 5 NA 1 1 8.08E-18 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 49602230 A G - - - - - - 17 0 0 47 7 14.9 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.725402321 0.725402321 1 1.40722049 1.40722049 1 NA NA 1 NA NA 1 5 NA 1 1 4.12E-09 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 50016439 G C NFATC2 CCDS33488.1 r.? - - intronic 30 0 0 53 10 18.9 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.920141199 0.920141199 1 1.292679287 1.292679287 1 NA NA 1 NA NA 1 5 NA 1 1 1.57E-13 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 50130819 G C NFATC2 CCDS33488.1 r.? - - intronic 39 0 0 37 9 24.3 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.183038685 1.183038685 1 1.77266147 0.886330735 2 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 50140590 C A NFATC2 CCDS13437.1 r.410g>u c.190G>T p.V64F missense 24 0 0 53 6 11.3 30 4 13.3 303 0 0 454 34 7.5 2054 2038 99.2 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.550137331 0.550137331 1 0.725427617 0.725427617 1 0.365135397 0.365135397 1 5.410708241 2.70535412 2 5 4 1 1 0.000000293 1.57E-28 0.0000154 0 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 20 50169243 G C NFATC2 CCDS46614.1 r.? - - intronic 35 0 0 45 16 35.6 35 4 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.733176015 0.866588008 2 0.6217951 0.6217951 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-26 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 50887302 A T - - - - - - 34 0 0 51 17 33.3 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.621201161 0.81060058 2 0.698155902 0.698155902 1 NA NA 1 NA NA 1 5 NA 1 1 9.59E-27 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 50989479 C T - - - - - - 25 0 0 47 12 25.5 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.241460348 1.241460348 1 0.83996882 0.83996882 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 51140201 T C - - - - - - 41 0 0 48 8 16.7 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.813034816 0.813034816 1 1.363585746 1.363585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-10 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 51170955 G T - - - - - - 22 0 0 35 8 22.9 16 4 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.114880077 1.114880077 1 1.363585746 1.363585746 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 0.00000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 51221137 T A - - - - - - 32 0 0 44 11 25 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 0.763608018 0.763608018 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 51240022 T G - - - - - - 30 0 0 68 20 29.4 35 4 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.431330754 0.715665377 2 0.6217951 0.6217951 1 NA NA 1 NA NA 1 5 NA 1 1 6.23E-30 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 51358881 C T - - - - - - 36 0 0 61 13 21.3 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.036984526 1.036984526 1 1.679937639 0.83996882 2 NA NA 1 NA NA 1 5 NA 1 1 6.41E-18 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 51465563 A C - - - - - - 27 0 0 55 16 29.1 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.416725338 1.416725338 1 1.363585746 1.363585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.78E-24 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 51483019 G C - - - - - - 38 0 0 41 11 26.8 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.304750484 1.304750484 1 0.883603563 0.883603563 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 51613086 T C TSHZ2 CCDS33490.1 r.? - - intronic 24 0 0 45 11 24.4 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.187907157 1.187907157 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-16 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 51870195 C A TSHZ2 CCDS33490.1 r.1085c>a c.198C>A p.Y66* nonsense 35 0 0 51 9 17.6 38 8 21.1 302 0 0 255 54 21.2 28 4 14.3 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.856851064 0.856851064 1 1.15086637 1.15086637 1 1.032116054 1.032116054 1 0.779971047 0.779971047 1 5 6 1 1 4.92E-12 1.89E-69 1.67E-11 0.0000116 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 20 51883766 T G TSHZ2 CCDS33490.1 r.? - - intronic 24 0 0 51 10 19.6 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 0.605432071 0.605432071 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-13 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 51884675 A G TSHZ2 CCDS33490.1 r.? - - intronic 30 0 0 51 6 11.8 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.574479691 0.574479691 1 0.829060134 0.829060134 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000232 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 52052043 A C TSHZ2 CCDS33490.1 r.? - - intronic 24 0 0 54 17 31.5 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.533568665 0.766784333 2 1.156320713 1.156320713 1 NA NA 1 NA NA 1 5 NA 1 1 3.02E-26 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 52088180 A T TSHZ2 CCDS33490.1 r.? - - intronic 25 0 0 38 7 18.4 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.895798839 0.895798839 1 1.134503341 1.134503341 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 52191006 T G ZNF217 CCDS13443.1 r.? - - intronic 33 0 0 45 10 22.2 45 5 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.080800774 1.080800774 1 0.605432071 0.605432071 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 52216756 G C ZNF217 ENST00000431687 r.? - - intronic 35 0 0 55 9 16.4 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.7984294 0.7984294 1 0.850877506 0.850877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.01E-11 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 52362309 A C - - - - - - 32 0 0 49 11 22.4 49 5 10.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.090537718 1.090537718 1 0.556342984 0.556342984 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 0.00000496 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 52542731 G A - - - - - - 31 0 0 47 10 21.3 52 9 17.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.036984526 1.036984526 1 0.943601336 0.943601336 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 52621917 C T BCAS1 CCDS13444.1 r.? - - intronic 15 0 0 41 8 19.5 49 15 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.949352031 0.949352031 1 1.669028953 0.834514477 2 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 4.1E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 52663136 A G BCAS1 CCDS13444.1 r.? - - intronic 26 0 0 39 8 20.5 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.99803675 0.99803675 1 1.40722049 1.40722049 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 52765907 C T CYP24A1 CCDS33491.1 r.? - - downstream 31 0 0 70 19 27.1 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.319355899 1.319355899 1 0.981781737 0.981781737 1 NA NA 1 NA NA 1 5 NA 1 1 9.5E-28 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 52771077 G A CYP24A1 CCDS33491.1 r.2173c>u c.? p.? 3'UTR variant 36 0 0 41 9 22 56 11 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.07106383 1.07106383 1 1.069051225 1.069051225 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 5.91E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 52831483 A C PFDN4 CCDS13445.1 r.? - - intronic 48 0 0 45 9 20 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 0.829060134 0.829060134 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-12 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 52852623 G A - - - - - - 33 0 0 49 11 22.4 51 7 13.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.090537718 1.090537718 1 0.747244989 0.747244989 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 7.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 53201660 T C DOK5 CCDS13446.1 r.? - - intronic 32 0 0 52 15 28.8 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.402119923 1.402119923 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-22 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 53419231 C A - - - - - - 36 0 0 51 13 25.5 43 4 9.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.241460348 1.241460348 1 0.507253898 0.507253898 1 NA NA 1 NA NA 1 5 NA 1 1 4.87E-19 1 0.000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 53471903 A T - - - - - - 36 0 0 41 11 26.8 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.304750484 1.304750484 1 1.025416481 1.025416481 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 53481317 T G - - - - - - 46 0 0 54 11 20.4 47 5 10.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.993168279 0.993168279 1 0.578160356 0.578160356 1 NA NA 1 NA NA 1 5 NA 1 1 3.84E-15 1 0.00000402 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 53627456 C A - - - - - - 38 0 0 45 10 22.2 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.080800774 1.080800774 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 53730890 C A - - - - - - 27 0 0 45 14 31.1 64 18 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.514094778 1.514094778 1 1.532670379 0.766335189 2 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 1.1E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 54143083 G C - - - - - - 34 0 0 42 11 26.2 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.275539652 1.275539652 1 0.752699332 0.752699332 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 54162036 A C - - - - - - 37 0 0 59 15 25.4 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.236591876 1.236591876 1 1.063596882 1.063596882 1 NA NA 1 NA NA 1 5 NA 1 1 9.9E-22 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 54189247 T A - - - - - - 28 0 0 48 11 22.9 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.114880077 1.114880077 1 1.363585746 1.363585746 1 NA NA 1 NA NA 1 5 NA 1 1 9.31E-16 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 54227456 A T - - - - - - 34 0 0 54 11 20.4 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.993168279 0.993168279 1 1.025416481 1.025416481 1 NA NA 1 NA NA 1 5 NA 1 1 3.84E-15 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 54307705 A G - - - - - - 31 0 0 44 13 29.5 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.436199226 1.436199226 1 0.725427617 0.725427617 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 54309459 G T - - - - - - 37 0 0 63 12 19 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.925009671 0.925009671 1 1.445400891 1.445400891 1 NA NA 1 NA NA 1 5 NA 1 1 5.15E-16 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 54450181 G T - - - - - - 34 0 0 49 11 22.4 56 12 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.090537718 1.090537718 1 1.167229399 1.167229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 1.11E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 54701945 A G - - - - - - 36 0 0 54 10 18.5 49 10 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.900667311 0.900667311 1 1.112685969 1.112685969 1 NA NA 1 NA NA 1 5 NA 1 1 1.91E-13 1 6.72E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 54774099 A G - - - - - - 39 0 0 59 16 27.1 42 11 26.2 0 0 NA 1 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.319355899 1.319355899 1 1.429037862 1.429037862 1 0 0 1 NA NA 1 5 NA 1 1 1.37E-23 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 54778287 C G - - - - - - 26 0 0 34 4 11.8 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.574479691 0.574479691 1 1.29813363 1.29813363 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000257 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 54862956 G C - - - - - - 41 0 0 48 8 16.7 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.813034816 0.813034816 1 0.850877506 0.850877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-10 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 54870458 G T - - - - - - 25 0 0 56 15 26.8 55 11 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.304750484 1.304750484 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 4.09E-22 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 54922540 G C - - - - - - 23 0 0 51 8 15.7 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.764350097 0.764350097 1 0.872694878 0.872694878 1 NA NA 1 NA NA 1 5 NA 1 1 2.05E-10 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 55215437 C G TFAP2C CCDS13454.1 r.? - - downstream 36 0 0 49 7 14.3 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 1.030870824 1.030870824 1 NA NA 1 NA NA 1 5 NA 1 1 5.58E-09 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 55515199 C T - - - - - - 31 0 0 41 9 22 53 8 15.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.07106383 1.07106383 1 0.823605791 0.823605791 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 2.83E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 55657484 T C - - - - - - 14 0 0 42 12 28.6 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.392382979 1.392382979 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 55729629 A G - - - - - - 33 0 0 45 9 20 55 12 21.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 1.189046771 1.189046771 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-12 1 8.78E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 55868414 G T - - - - - - 41 0 0 48 9 18.8 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.915272727 0.915272727 1 1.210864143 1.210864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 56321400 C G - - - - - - 33 0 0 52 18 34.6 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.684491296 0.842245648 2 0.889057906 0.889057906 1 NA NA 1 NA NA 1 5 NA 1 1 1.39E-28 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 56536098 T A - - - - - - 23 0 0 43 7 16.3 28 1 3.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.793560928 0.793560928 1 0.196356347 0.196356347 1 NA NA 1 NA NA 1 5 NA 1 1 2.15E-09 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 56666388 C A - - - - - - 47 0 0 43 8 18.6 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.905535783 0.905535783 1 1.063596882 1.063596882 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 56763236 C T - - - - - - 37 0 0 40 8 20 62 5 8.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 0.441801782 0.441801782 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 0.000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 56851550 G C PPP4R1L ENST00000244070 r.? - - intronic 25 0 0 46 11 23.9 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.163564797 1.163564797 1 0.659975501 0.659975501 1 NA NA 1 NA NA 1 5 NA 1 1 5.55E-16 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 56940830 G A RAB22A CCDS33497.1 r.6937g>a c.? p.? 3'UTR variant 30 0 0 47 9 19.1 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.929878143 0.929878143 1 1.183592428 1.183592428 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-12 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 56992556 A G VAPB CCDS33498.1 r.? - - intronic 35 0 0 46 14 30.4 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.480015474 1.480015474 1 0.954510022 0.954510022 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-21 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 57710861 A G - - - - - - 47 0 0 48 10 20.8 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.012642166 1.012642166 1 0.736336303 0.736336303 1 NA NA 1 NA NA 1 5 NA 1 1 5.37E-14 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 57815170 C A ZNF831 CCDS42894.1 r.? - - intronic 22 0 0 36 7 19.4 14 5 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.944483559 0.944483559 1 1.947200445 1.947200445 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 6.03E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 57909115 G T - - - - - - 27 0 0 50 9 18 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.876324952 0.876324952 1 0.93269265 0.93269265 1 NA NA 1 NA NA 1 5 NA 1 1 4.07E-12 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 58149409 C T PHACTR3 ENST00000359926 r.? - - upstream 23 0 0 43 7 16.3 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.793560928 0.793560928 1 1.249044543 1.249044543 1 NA NA 1 NA NA 1 5 NA 1 1 2.15E-09 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 58246653 T A PHACTR3 CCDS13480.1 r.? - - intronic 28 0 0 41 10 24.4 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.187907157 1.187907157 1 1.15086637 1.15086637 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 58415865 T G PHACTR3 CCDS13480.1 r.? - - intronic 27 0 0 35 9 25.7 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.251197292 1.251197292 1 0.927238307 0.927238307 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 58562673 G A CDH26 CCDS13485.1 r.1303g>a c.1003G>A p.G335R missense 32 0 0 50 10 20 27 4 14.8 205 0 0 190 34 17.9 14 0 0 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 0.807242762 0.807242762 1 0.87145648 0.87145648 1 0 0 1 5 5 1 1 8.36E-14 1.2E-41 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 58641892 A T C20orf197 CCDS13487.1 r.? - - intronic 16 0 0 52 6 11.5 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.559874275 0.559874275 1 0.725427617 0.725427617 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000261 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 58646830 C G C20orf197 CCDS13487.1 r.1554c>g c.? p.? 3'UTR variant 24 0 0 55 11 20 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 4.77E-15 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 58714501 A G - - - - - - 30 0 0 55 14 25.5 52 11 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.241460348 1.241460348 1 1.156320713 1.156320713 1 NA NA 1 NA NA 1 5 NA 1 1 2.19E-20 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 59166494 T G ENSG00000237240 ENST00000456299 r.? - - intronic 31 0 0 55 9 16.4 29 2 6.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.7984294 0.7984294 1 0.376349666 0.376349666 1 NA NA 1 NA NA 1 5 NA 1 1 1.01E-11 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 59365212 G C ENSG00000237240 ENST00000456299 r.? - - intronic 39 0 0 55 15 27.3 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.329092843 1.329092843 1 0.976327394 0.976327394 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-22 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 59433051 C T ENSG00000237240 ENST00000456299 r.? - - downstream 23 0 0 55 7 12.7 46 4 8.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.618295938 0.618295938 1 0.47452784 0.47452784 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-08 1 0.0000862 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 59465857 C A - - - - - - 30 0 0 45 12 26.7 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.299882012 1.299882012 1 1.249044543 1.249044543 1 NA NA 1 NA NA 1 5 NA 1 1 6.03E-18 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 59472268 T C - - - - - - 26 0 0 46 9 19.6 27 5 18.5 0 0 NA 1 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 1.009053452 1.009053452 1 0 0 1 NA NA 1 5 NA 1 1 1.82E-12 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 59472270 T C - - - - - - 25 0 0 43 7 16.3 25 5 20 0 0 NA 1 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.793560928 0.793560928 1 1.090868597 1.090868597 1 0 0 1 NA NA 1 5 NA 1 1 2.15E-09 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 59475546 T G - - - - - - 27 0 0 56 9 16.1 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.783823985 0.783823985 1 0.665429844 0.665429844 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-11 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 59684064 C G - - - - - - 33 0 0 37 19 51.4 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.502394584 1.251197292 2 1.723572383 0.861786192 2 NA NA 1 NA NA 1 5 NA 1 1 3.09E-34 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 59999662 A G CDH4 CCDS13488.1 r.? - - intronic 26 0 0 49 8 16.3 35 13 37.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.793560928 0.793560928 1 2.023561247 1.011780624 2 NA NA 1 NA NA 1 5 NA 1 1 1.47E-10 1 1.63E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 60126541 A T CDH4 CCDS13488.1 r.? - - intronic 24 0 0 57 8 14 52 4 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.681586074 0.681586074 1 0.41998441 0.41998441 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-10 1 0.000139698 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 60204925 A T CDH4 CCDS13488.1 r.? - - intronic 23 0 0 50 16 32 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.557911025 0.778955513 2 1.679937639 0.83996882 2 NA NA 1 NA NA 1 5 NA 1 1 6.4E-25 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 60292589 G C CDH4 CCDS13488.1 r.? - - intronic 34 0 0 50 11 22 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.07106383 1.07106383 1 0.829060134 0.829060134 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 60428106 C A CDH4 CCDS13488.1 r.? - - intronic 22 0 0 47 7 14.9 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.725402321 0.725402321 1 1.014507795 1.014507795 1 NA NA 1 NA NA 1 5 NA 1 1 4.12E-09 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 60645775 C T MIR1257 CCDS33500.1 r.? - - upstream 31 0 0 58 11 19 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.925009671 0.925009671 1 0.872694878 0.872694878 1 NA NA 1 NA NA 1 5 NA 1 1 8.96E-15 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 60755153 G C SS18L1 CCDS13491.1 r.2106g>c c.? p.? 3'UTR variant 36 0 0 47 8 17 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.827640232 0.827640232 1 1.199955457 1.199955457 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-10 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 60955372 C T - - - - - - 24 0 0 56 9 16.1 44 3 6.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.783823985 0.783823985 1 0.370895323 0.370895323 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-11 1 0.00142027 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 60962777 G A CABLES2 CCDS33503.1 r.? - - downstream 17 0 0 41 11 26.8 40 5 12.5 160 0 0 183 37 20.2 17 0 0 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.304750484 1.304750484 1 0.681792873 0.681792873 1 0.983431335 0.983431335 1 0 0 1 5 5 1 1 1.34E-16 2.67E-47 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 60966938 C G CABLES2 CCDS33503.1 r.? - - intronic 19 0 0 37 10 27 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.314487427 1.314487427 1 1.259953229 1.259953229 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 60976130 C A CABLES2 CCDS33503.1 r.? - - intronic 28 0 0 55 8 14.5 45 6 13.3 1 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.705928433 0.705928433 1 0.725427617 0.725427617 1 NA NA 1 NA NA 1 5 NA 1 1 3.86E-10 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 61047510 C T GATA5 CCDS13499.1 r.? - - intronic 29 0 0 50 15 30 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.460541586 1.460541586 1 1.036325167 1.036325167 1 NA NA 1 NA NA 1 5 NA 1 1 5.83E-23 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 61074557 A G - - - - - - 42 0 0 39 13 33.3 47 11 23.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.621201161 0.81060058 2 1.276316258 1.276316258 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 61153567 C A C20orf166 CCDS46627.1 r.? - - intronic 21 0 0 47 7 14.9 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.725402321 0.725402321 1 0.883603563 0.883603563 1 NA NA 1 NA NA 1 5 NA 1 1 4.12E-09 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 61168658 T A C20orf166 CCDS46627.1 r.? - - downstream 29 0 0 32 11 34.4 22 1 4.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.674754352 0.837377176 2 0.245445434 0.245445434 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 61197411 A G - - - - - - 43 0 0 47 10 21.3 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.036984526 1.036984526 1 0.889057906 0.889057906 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 61211938 C G - - - - - - 28 0 0 39 7 17.9 35 2 5.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.87145648 0.87145648 1 0.31089755 0.31089755 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 61330002 G T C20orf90 ENST00000435412 r.? - - intronic 33 0 0 37 5 13.5 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.657243714 0.657243714 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000119 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 61417867 G C - - - - - - 27 0 0 51 12 23.5 48 6 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.144090909 1.144090909 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-17 1 0.00000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 61463038 A T COL9A3 CCDS13505.1 r.? - - intronic 34 0 0 49 12 24.5 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.192775629 1.192775629 1 1.576305122 1.576305122 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 61578213 T A C20orf11 CCDS13510.1 r.? - - downstream 38 0 0 61 11 18 44 5 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.876324952 0.876324952 1 0.6217951 0.6217951 1 NA NA 1 NA NA 1 5 NA 1 1 1.62E-14 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 61607108 G A AL121673.1 ENST00000515451 r.? - - downstream 33 0 0 38 10 26.3 48 9 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.280408124 1.280408124 1 1.025416481 1.025416481 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 61726437 C T - - - - - - 41 0 0 63 19 30.2 51 14 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.47027853 0.735139265 2 1.499944321 1.499944321 1 NA NA 1 NA NA 1 5 NA 1 1 9.48E-29 1 6.64E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 61869927 T A BIRC7 CCDS13513.1 r.752u>a c.538T>A p.W180R missense 30 0 0 55 13 23.6 29 10 34.5 224 0 0 388 53 13.7 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.148959381 1.148959381 1 1.88174833 0.940874165 2 0.666980658 0.666980658 1 NA NA 1 5 NA 1 1 1.46E-18 1.95E-57 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 62062626 G A KCNQ2 CCDS13520.1 r.? - - intronic 33 0 0 49 6 12.2 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.593953578 0.593953578 1 0.796334076 0.796334076 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000182 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 62137298 C T - - - - - - 22 0 0 64 12 18.8 45 5 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.915272727 0.915272727 1 0.605432071 0.605432071 1 NA NA 1 NA NA 1 5 NA 1 1 6.3E-16 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 62285365 G A RTEL1 CCDS13531.1 r.? - - upstream 30 0 0 44 9 20.5 35 13 37.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.99803675 0.99803675 1 2.023561247 1.011780624 2 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 1.63E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 62387134 C T ZBTB46 CCDS13538.1 r.? - - intronic 42 0 0 75 12 16 66 19 28.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.778955513 0.778955513 1 1.57085078 0.78542539 2 NA NA 1 NA NA 1 5 NA 1 1 4.77E-15 1 2.64E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 62395592 C G ZBTB46 CCDS13538.1 r.? - - intronic 28 0 0 52 12 23.1 57 15 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.124617021 1.124617021 1 1.434492205 1.434492205 1 NA NA 1 NA NA 1 5 NA 1 1 4.19E-17 1 5.53E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 62496677 C T TPD52L2 CCDS13542.1 r.31c>u c.? p.? 5'UTR variant 24 0 0 69 25 36.2 17 7 41.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.762386847 0.881193424 2 2.24718931 1.123594655 2 NA NA 1 NA NA 1 5 NA 1 1 1E-39 1 1.45E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 62530586 A G DNAJC5 CCDS13546.1 r.? - - intronic 40 0 0 51 12 23.5 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.144090909 1.144090909 1 1.210864143 1.210864143 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-17 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 62568326 G T DNAJC5 CCDS13546.1 r.? - - downstream 22 0 0 42 8 19 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.925009671 0.925009671 1 1.178138085 1.178138085 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 9453697 G T - - - - - - 141 0 0 129 9 7 105 7 6.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.237985299 0.237985299 1 0.264430971 0.53703789 0.492387923 NA NA 1 NA NA 1 2 NA 1 1 2.33E-08 1 0.00000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 9554722 A T - - - - - - 124 0 0 93 7 7.5 97 2 2.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.254984249 0.254984249 1 0.082881349 0.082881349 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000508 1 0.085302553 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 9588199 T A - - - - - - 64 0 0 97 11 11.3 81 8 9.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.384176269 0.723062725 0.531318039 0.39072636 0.793533598 0.492387923 NA NA 1 NA NA 1 5 NA 1 1 3.27E-12 1 9.08E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 9705720 G T - - - - - - 88 0 0 118 9 7.6 100 5 5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.258384039 0.258384039 1 0.197336545 0.197336545 1 NA NA 1 NA NA 1 3 NA 1 1 1.07E-08 1 0.000158599 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 9909994 G T ENSG00000227328 ENST00000416067 r.? - - intronic 123 0 0 125 13 10.4 55 1 1.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.353578159 0.665473658 0.531318039 0.071041156 0.071041156 1 NA NA 1 NA NA 1 3 NA 1 1 1.11E-13 1 0.240951649 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 10100448 C G - - - - - - 45 0 0 50 6 12 59 10 16.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.407974799 0.767854221 0.531318039 0.666997523 0.666997523 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000206 1 4.91E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 10129052 C A - - - - - - 20 0 0 16 4 25 22 1 4.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.849947498 0.849947498 1 0.177602891 0.177602891 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000108 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 10435751 C A - - - - - - 67 0 0 54 6 11.1 65 11 16.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.377376689 0.710265154 0.531318039 0.666997523 0.666997523 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000329 1 3.41E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 10487220 A T - - - - - - 70 0 0 59 9 15.3 59 4 6.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.520167869 0.979014132 0.531318039 0.268377702 0.54505338 0.492387923 NA NA 1 NA NA 1 5 NA 1 1 1.96E-11 1 0.00022841 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 10640627 T A - - - - - - 55 0 0 44 5 11.4 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.387576059 0.72946151 0.531318039 0.856440607 0.856440607 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000288 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 14508847 T A - - - - - - 45 0 0 42 7 16.7 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.567764929 0.567764929 1 0.52096848 0.52096848 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 14626463 T A - - - - - - 51 0 0 37 8 21.6 52 7 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.734354638 0.734354638 1 0.532808672 1.08209127 0.492387923 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 8.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 14692686 A T - - - - - - 63 0 0 42 7 16.7 40 4 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.567764929 0.567764929 1 0.394673091 0.801549089 0.492387923 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 14755008 T A - - - - - - 56 0 0 47 6 12.8 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.435173119 0.819044502 0.531318039 0.730145218 0.730145218 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000141 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 14798624 A T - - - - - - 58 0 0 55 8 14.5 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.492969549 0.92782385 0.531318039 0.52096848 0.52096848 1 NA NA 1 NA NA 1 5 NA 1 1 3.86E-10 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 14808292 C A - - - - - - 59 0 0 87 15 17.2 69 7 10.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.584763879 1.10059105 0.531318039 0.398619822 0.80956458 0.492387923 NA NA 0 NA NA 1 5 NA 1 1 5.73E-19 1 6.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 15074615 G A - - - - - - 56 0 0 47 12 25.5 49 9 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.866946448 0.866946448 1 0.726198487 0.726198487 1 NA NA 0 NA NA 1 5 NA 1 1 1.09E-17 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 15521122 A C LIPI CCDS13564.1 r.? - - intronic 29 0 0 30 14 46.7 21 12 57.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.339576402 1.339576402 1 1.972429844 1.972429844 1 NA NA 1 NA NA 1 5 NA 1 1 8.24E-25 1 6.88E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 15907869 G T SAMSN1 CCDS42906.1 r.? - - intronic 40 0 0 29 9 31 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 15944582 C G SAMSN1 ENST00000285670 r.? - - intronic 36 0 0 33 13 39.4 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.13017795 1.13017795 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 15953932 G A SAMSN1 ENST00000285670 r.? - - intronic 26 0 0 18 10 55.6 31 8 25.8 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.594870406 1.594870406 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 4.12E-19 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 16157719 C A - - - - - - 38 0 0 34 16 47.1 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.35105029 1.35105029 1 0.53196882 0.53196882 1 NA NA 1 NA NA 1 5 NA 1 1 3.09E-28 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 16344491 G C NRIP1 CCDS13568.1 r.? - 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- intronic 42 0 0 34 14 41.2 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.181810445 1.181810445 1 1.336830735 1.336830735 1 NA NA 1 NA NA 1 5 NA 1 1 7.74E-24 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 19756363 A T PRSS7 CCDS13571.1 r.? - - intronic 40 0 0 27 9 33.3 36 12 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 19840399 G T PRSS7 ENST00000422787 r.? - - intronic 27 0 0 27 5 18.5 25 1 4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.530667311 0.530667311 1 0.138173719 0.138173719 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000023 1 0.117779757 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 20166938 T G - - - - - - 34 0 0 34 8 23.5 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.674090909 0.674090909 1 1.12266147 1.12266147 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 20503560 T G - - - - - - 37 0 0 29 12 41.4 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 20584452 A T - - - - - - 38 0 0 23 9 39.1 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 20677356 A G - - - - - - 41 0 0 27 8 29.6 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 20753895 T A - - - - - - 42 0 0 35 15 42.9 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 9.02E-26 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 21327159 G A - 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- - - - - 47 0 0 39 13 33.3 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 24456777 A C - - - - - - 28 0 0 30 17 56.7 30 14 46.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.626423598 1.626423598 1 1.613178174 1.613178174 1 NA NA 1 NA NA 1 5 NA 1 1 8.59E-32 1 8.24E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 24587615 A T - - - - - - 38 0 0 30 12 40 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 24884705 C G - - - - - - 31 0 0 23 6 26.1 19 9 47.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.74867118 0.74867118 1 1.637358575 1.637358575 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-09 1 1.72E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 25477323 C T - 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- - - - - 36 0 0 26 5 19.2 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.550746615 0.550746615 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000188 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 26709013 C T - - - - - - 35 0 0 31 13 41.9 31 17 54.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 1.892979955 1.892979955 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 1.89E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 27203982 A C AP001441.1 ENST00000509807 r.? - - intronic 43 0 0 25 9 36 20 6 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 5.7E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 27432348 C G APP CCDS33523.1 r.? - - intronic 29 0 0 31 9 29 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 0.476699332 0.476699332 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 27571670 A G - - - - - - 33 0 0 29 8 27.6 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 0.59069265 0.59069265 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 28490245 T C - - - - - - 43 0 0 30 7 23.3 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.668353965 0.668353965 1 0.780681514 0.780681514 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 28584499 T A - - - - - - 45 0 0 42 16 38.1 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.092887814 1.092887814 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.25E-26 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 28775428 G A - - - - - - 33 0 0 34 11 32.4 35 14 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 1.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 28789603 A T - - - - - - 38 0 0 29 11 37.9 36 13 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 1.247017817 1.247017817 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 28852318 T C - - - - - - 29 0 0 19 6 31.6 29 11 37.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.906437137 0.906437137 1 1.309195991 1.309195991 1 NA NA 1 NA NA 1 5 NA 1 1 4.01E-10 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 29658241 A T - - - - - - 33 0 0 30 12 40 20 2 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.345434298 0.345434298 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 0.004473894 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 29765777 G C - - - - - - 24 0 0 21 14 66.7 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.913270793 1.913270793 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 6.87E-28 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 30685107 C T BACH1 CCDS13585.1 r.? - - intronic 32 0 0 29 12 41.4 28 2 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 0.245258352 0.245258352 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 30911499 A T GRIK1 CCDS33530.1 r.? - - intronic 37 0 0 31 8 25.8 33 12 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.740065764 0.740065764 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 31144349 C T GRIK1 CCDS42913.1 r.? - - intronic 30 0 0 32 5 15.6 31 13 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.447481625 0.447481625 1 1.44736971 1.44736971 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000562 1 2.32E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 31162658 C T GRIK1 CCDS42913.1 r.? - - intronic 36 0 0 24 7 29.2 28 12 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 6.9E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 31727168 A T KRTAP13-2 ENST00000448917 r.? - - intronic 36 0 0 32 14 43.8 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.256390716 1.256390716 1 0.887766147 0.887766147 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 33228540 G A - - - - - - 38 0 0 24 8 33.3 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-13 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 34224983 T A - - - - - - 22 0 0 40 6 15 63 14 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.773994585 0.773994585 1 0.766864143 0.766864143 1 NA NA 0 NA NA 0 5 NA 1 1 5.18E-08 1 1.81E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 34316558 C A - - - - - - 35 0 0 58 13 22.4 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.155831913 1.155831913 1 0.483608018 0.483608018 1 NA NA 0 NA NA 0 5 NA 1 1 3.12E-18 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 34397482 C G OLIG2 CCDS13620.1 r.? - - upstream 27 0 0 52 15 28.8 39 11 28.2 0 0 NA 2 0 0 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.486069603 1.486069603 1 0.974124722 0.974124722 1 0 NA 0 NA NA 0 5 NA 1 1 1.15E-22 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 34608437 G A IFNAR2 CCDS13622.1 r.? - - intronic 32 0 0 48 20 41.7 46 21 45.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.151704945 0.938997386 2.291491944 1.578634744 1.578634744 1 NA NA 0 NA NA 0 5 NA 1 1 1.4E-33 1 2.94E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 34727827 G A IFNAR1 CCDS13624.1 r.1798g>a c.1646G>A p.S549N missense 30 0 0 54 17 31.5 37 15 40.5 120 0 0 96 36 37.5 168 57 33.9 TRUE TRUE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.625388628 0.812694314 2 1.399008909 1.399008909 1 1.934986462 0.967493231 2 1.171022272 1.171022272 1 5 4 1 1 3.02E-26 3.48E-57 2.58E-25 1.42E-86 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 21 34842367 T A TMEM50B CCDS13625.1 r.? - - intronic 41 1 2.4 32 8 25 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.289990974 1.289990974 1 0.614873051 0.614873051 1 NA NA 0 NA NA 0 5 NA 0.18577148 1 3.69E-12 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 35712017 C A - - - - - - 21 0 0 51 9 17.6 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.908153646 0.908153646 1 0.759955457 0.759955457 1 NA NA 0 NA NA 0 5 NA 1 1 4.92E-12 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 35751409 C T FAM165B CCDS33550.1 r.? - - intronic 22 0 0 54 15 27.8 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.434469964 1.434469964 1 0.96030735 0.96030735 1 NA NA 1 NA NA 0 5 NA 1 1 2.2E-22 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 36220007 G T RUNX1 CCDS42922.1 r.? - - intronic 35 0 0 56 12 21.4 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.104232274 1.104232274 1 0.614873051 0.614873051 1 NA NA 1 NA NA 0 5 NA 1 1 1.11E-16 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 36220008 C A RUNX1 CCDS42922.1 r.? - - intronic 34 0 0 55 12 21.8 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.12487213 1.12487213 1 0.614873051 0.614873051 1 NA NA 0 NA NA 0 5 NA 1 1 8.78E-17 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 36781677 C G - - - - - - 32 0 0 58 28 48.3 52 24 46.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.492262563 1.087615677 2.291491944 1.595906459 1.595906459 1 NA NA 0 NA NA 0 5 NA 1 1 9.36E-49 1 2.22E-41 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 37310222 G A - - - - - - 36 0 0 65 21 32.3 43 21 48.8 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.666668339 0.83333417 2 1.685719376 1.685719376 1 NA NA 0 0 NA 0 5 NA 1 1 2.35E-32 1 4.52E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 38037012 A C - - - - - - 32 0 0 36 17 47.2 41 19 46.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.43550296 1.062845962 2.291491944 1.599360802 1.599360802 1 NA NA 0 NA NA 0 5 NA 1 1 6E-30 1 4.2E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 38320824 G C HLCS CCDS13647.1 r.? - - intronic 17 0 0 41 9 22 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.135192058 1.135192058 1 0.55614922 0.55614922 1 NA NA 0 NA NA 0 5 NA 1 1 5.92E-13 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 38553686 G A TTC3L CCDS13651.1 r.? - - intronic 23 0 0 53 24 45.3 64 28 43.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.337463646 1.020061908 2.291491944 1.513002227 1.513002227 1 NA NA 0 NA NA 0 5 NA 1 1 4.04E-41 1 3.5E-47 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 38679757 G C - - - - - - 39 0 0 57 5 8.8 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.454076823 0.454076823 1 0.576875278 0.576875278 1 NA NA 0 NA NA 0 5 NA 1 1 0.0000105 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 38956467 A G - - - - - - 34 0 0 55 6 10.9 46 5 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.562436065 0.562436065 1 0.376523385 0.376523385 1 NA NA 0 NA NA 0 4 NA 1 1 0.000000367 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 39033660 T C KCNJ6 CCDS42927.1 r.? - - intronic 31 0 0 48 23 47.9 48 18 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.471622707 1.078608508 2.291491944 1.295378619 1.295378619 1 NA NA 0 NA NA 0 5 NA 1 1 3.27E-40 1 2.42E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 39117051 G A KCNJ6 CCDS42927.1 r.? - - intronic 31 0 0 44 21 47.7 57 20 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.461302779 1.074104923 2.291491944 1.212474388 1.212474388 1 NA NA 0 NA NA 0 5 NA 1 1 8.6E-37 1 9.67E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 39117281 T A KCNJ6 CCDS42927.1 r.? - - intronic 27 0 0 50 23 46 45 15 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.373583393 1.035824454 2.291491944 1.150296214 1.150296214 1 NA NA 0 NA NA 0 5 NA 1 1 1.13E-39 1 9.14E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 39343653 G A DSCR4 ENST00000398948 r.? - - intronic 32 0 0 73 34 46.6 56 26 46.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.404543176 1.049335208 2.291491944 1.602815145 1.602815145 1 NA NA 0 NA NA 0 5 NA 1 1 3.57E-58 1 8.57E-45 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 39468589 T G DSCR4 ENST00000328264 r.? - - intronic 39 0 0 53 11 20.8 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.073272491 1.073272491 1 0.563057906 0.563057906 1 NA NA 0 NA NA 0 5 NA 1 1 3.07E-15 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 39472512 T A DSCR4 ENST00000328264 r.? - - intronic 43 0 0 71 15 21.1 54 8 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.088752382 1.088752382 1 0.511242762 0.511242762 1 NA NA 0 NA NA 0 5 NA 1 1 2.15E-20 1 3.31E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 39694337 C G - - - - - - 34 0 0 51 11 21.6 50 4 8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.114552202 1.114552202 1 0.276347439 0.276347439 1 NA NA 0 NA NA 0 4 NA 1 1 1.94E-15 1 0.000119787 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 39724764 G T - - - - - - 27 0 0 49 13 26.5 47 7 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.367390433 1.367390433 1 0.514697105 0.514697105 1 NA NA 0 NA NA 0 5 NA 1 1 2.71E-19 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 39803047 T C ERG CCDS13657.1 r.? - - intronic 40 0 0 51 16 31.4 73 11 15.1 0 0 NA 2 0 0 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.620228664 0.810114332 2 0.521605791 0.521605791 1 0 NA 0 NA NA 0 5 NA 1 1 9.28E-25 1 1.31E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 40007803 G T ERG CCDS13657.1 r.? - - intronic 40 0 0 44 27 61.4 42 16 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 3.168217833 1.382600467 2.291491944 1.316104677 1.316104677 1 NA NA 0 NA NA 0 5 NA 1 1 4.71E-51 1 2.25E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 40116856 T A - - - - - - 36 0 0 45 6 13.3 46 2 4.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.686275198 0.686275198 1 0.148536748 0.148536748 1 NA NA 1 NA NA 0 3 NA 1 1 0.000000108 1 0.022369545 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 40132532 G C - - - - - - 30 0 0 48 15 31.2 59 11 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.609908736 0.804954368 2 0.642507795 0.642507795 1 NA NA 0 NA NA 0 5 NA 1 1 2.86E-23 1 1.1E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 40274397 C G - - - - - - 43 0 0 63 15 23.8 53 7 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.228071408 1.228071408 1 0.455973274 0.455973274 1 NA NA 0 NA NA 0 5 NA 1 1 2.97E-21 1 9.85E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 40471175 G A - - - - - - 36 0 0 56 19 33.9 51 5 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.749227761 0.874613881 2 0.338525612 0.338525612 1 NA NA 0 NA NA 0 5 NA 1 1 6.79E-30 1 0.00000606 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 40492202 T C - - - - - - 29 0 0 68 12 17.6 47 5 10.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.908153646 0.908153646 1 0.366160356 0.366160356 1 NA NA 0 NA NA 0 5 NA 1 1 1.37E-15 1 0.00000402 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 40498052 A G - - - - - - 28 0 0 49 9 18.4 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.949433357 0.949433357 1 0.421429844 0.421429844 1 NA NA 0 NA NA 0 5 NA 1 1 3.35E-12 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 40544043 G A PSMG1 CCDS13660.1 r.? - - downstream 21 0 0 45 9 20 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.03199278 1.03199278 1 0.749592428 0.749592428 1 NA NA 0 NA NA 0 5 NA 1 1 1.47E-12 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 41601576 C G DSCAM CCDS42929.1 r.? - - intronic 35 0 0 61 11 18 55 9 16.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.928793502 0.928793502 1 0.566512249 0.566512249 1 NA NA 0 NA NA 0 5 NA 1 1 1.62E-14 1 1.01E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 41667176 A C DSCAM CCDS42929.1 r.? - - intronic 21 0 0 51 31 60.8 61 35 57.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 3.13725805 1.369089714 2.291491944 1.982792873 1.982792873 1 NA NA 0 NA NA 0 5 NA 1 1 3.28E-58 1 3.12E-64 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 41782607 C G DSCAM CCDS42929.1 r.? - - intronic 46 0 0 66 9 13.6 55 7 12.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.70175509 0.70175509 1 0.438701559 0.438701559 1 NA NA 0 NA NA 0 4 NA 1 1 5.59E-11 1 1.28E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 41827808 G A DSCAM CCDS42929.1 r.? - - intronic 36 0 0 55 25 45.5 49 18 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.347783574 1.024565493 2.291491944 1.267743875 1.267743875 1 NA NA 0 NA NA 0 5 NA 1 1 7.96E-43 1 3.8E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 41971016 T G DSCAM CCDS42929.1 r.? - - intronic 28 0 0 50 21 42 54 27 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.167184837 0.945752763 2.291491944 1.727171492 1.727171492 1 NA NA 0 NA NA 0 5 NA 1 1 2.79E-35 1 1.27E-47 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 42070321 G T DSCAM CCDS42929.1 r.? - - intronic 28 0 0 62 26 41.9 44 18 40.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.162024873 0.94350097 2.291491944 1.412826281 1.412826281 1 NA NA 0 NA NA 0 5 NA 1 1 2.63E-43 1 3.47E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 42169321 G T DSCAM CCDS42929.1 r.? - - intronic 37 0 0 69 33 47.8 45 15 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.466462743 1.076356716 2.291491944 1.150296214 1.150296214 1 NA NA 0 NA NA 0 5 NA 1 1 5.18E-57 1 9.14E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 42562136 G A BACE2 CCDS13668.1 r.? - - intronic 35 0 0 54 30 55.6 48 23 47.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.868939927 1.251996514 2.291491944 1.65463029 1.65463029 1 NA NA 0 NA NA 0 5 NA 1 1 1.16E-54 1 3.27E-40 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 42951333 T G - - - - - - 37 0 0 58 22 37.9 61 23 37.7 2 0 0 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.955626317 0.977813159 2 1.302287305 1.302287305 1 NA NA 0 NA NA 0 5 NA 1 1 1.13E-35 1 3.73E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 43020420 C T - - - - - - 35 0 0 57 8 14 44 2 4.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.722394946 0.722394946 1 0.155445434 0.155445434 1 NA NA 0 NA NA 0 3 NA 1 1 5.19E-10 1 0.020580492 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 44056278 G C - - - - - - 35 0 0 57 22 38.6 48 20 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.991746065 0.995873032 2 1.440461024 1.440461024 1 NA NA 0 NA NA 0 5 NA 1 1 7.03E-36 1 1.4E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 44154562 A T PDE9A CCDS13690.1 r.? - - intronic 33 0 0 55 27 49.1 62 33 53.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.533542274 1.105630015 2.291491944 1.837710468 1.837710468 1 NA NA 0 NA NA 0 5 NA 1 1 2.49E-47 1 4.14E-59 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 44588792 C T CRYAA CCDS13695.1 r.? - - upstream 29 0 0 49 18 36.7 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.893706751 0.946853375 2 0.905037862 0.905037862 1 NA NA 0 NA NA 0 5 NA 1 1 3.8E-29 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 44632445 G A - - - - - - 26 0 0 63 30 47.6 53 23 43.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.456142815 1.071853131 2.291491944 1.499184855 1.499184855 1 NA NA 0 NA NA 0 5 NA 1 1 6.83E-52 1 6.43E-39 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 44844093 G T SIK1 CCDS33575.1 r.? - - intronic 31 0 0 74 8 10.8 43 13 30.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.557276101 0.557276101 1 1.043211581 1.043211581 1 NA NA 0 NA NA 0 5 NA 1 1 4.39E-09 1 3.88E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 44877991 C T - - - - - - 26 0 0 37 14 37.8 41 18 43.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.950466353 0.975233177 2 1.51645657 1.51645657 1 NA NA 0 NA NA 0 5 NA 1 1 3.35E-23 1 6.91E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 45187065 G A PDXK CCDS13699.1 r.? - - downstream 20 0 0 47 11 23.4 44 5 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.207431552 1.207431552 1 0.3937951 0.3937951 1 NA NA 0 NA NA 0 5 NA 1 1 7.21E-16 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 45590565 C T - - - - - - 36 0 0 62 12 19.4 42 2 4.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.001032996 1.001032996 1 0.165808463 0.165808463 1 NA NA 0 NA NA 0 4 NA 1 1 4.19E-16 1 0.018854633 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 45683767 C G DNMT3L CCDS13705.1 r.? - - upstream 33 0 0 47 11 23.4 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.207431552 1.207431552 1 0.545786192 0.545786192 1 NA NA 0 NA NA 0 5 NA 1 1 7.21E-16 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 45829939 C T TRPM2 CCDS13710.1 r.? - - intronic 25 0 0 45 18 40 51 25 49 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.063985559 1.03199278 2 1.692628062 1.692628062 1 NA NA 0 NA NA 0 5 NA 1 1 5.76E-30 1 6.52E-44 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 45958580 G T C21orf29 CCDS13712.1 r.? - - intronic 24 0 0 45 8 17.8 49 5 10.2 1 0 0 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.918473574 0.918473574 1 0.352342984 0.352342984 1 NA NA 0 NA NA 0 4 NA 1 1 7.14E-11 1 0.00000496 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 45970379 A T KRTAP10-2 CCDS42955.1 r.1010u>a c.? p.? 3'UTR variant 33 0 0 76 9 11.8 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.60887574 0.60887574 1 0.842859688 0.842859688 1 NA NA 0 NA NA 0 5 NA 1 1 2.06E-10 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 45977921 G T KRTAP10-3 CCDS42956.1 r.723c>a c.? p.? 3'UTR variant 19 0 0 54 28 51.9 46 29 63 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.678021263 1.1686802 2.291491944 2.17623608 2.17623608 1 NA NA 0 NA NA 0 5 NA 1 1 6.17E-50 1 3E-55 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 45984564 T C C21orf29 CCDS13712.1 r.? - - intronic 31 0 0 52 11 21.2 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.093912346 1.093912346 1 0.587238307 0.587238307 1 NA NA 0 NA NA 0 5 NA 1 1 2.44E-15 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 46349095 C A ITGB2 CCDS13716.1 r.? - - upstream 20 0 0 67 8 11.9 47 7 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.614035704 0.614035704 1 0.514697105 0.514697105 1 NA NA 0 NA NA 0 5 NA 1 1 1.96E-09 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 46793057 C G - - - - - - 24 0 0 50 5 10 47 4 8.5 1 0 0 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.51599639 0.51599639 1 0.293619154 0.293619154 1 NA NA 0 NA NA 0 4 NA 1 1 0.00000549 1 0.0000939 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 47025317 T C - - - - - - 26 0 0 52 7 13.5 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.696595126 0.696595126 1 0.442155902 0.442155902 1 NA NA 0 NA NA 0 5 NA 1 1 8.58E-09 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 47082673 T C PCBP3 CCDS42974.2 r.? - - intronic 29 0 0 52 20 38.5 43 21 48.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 1.986586101 0.99329305 2 1.685719376 1.685719376 1 NA NA 0 NA NA 0 5 NA 1 1 1.03E-32 1 4.52E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 47108464 C A PCBP3 CCDS42974.2 r.? - - intronic 47 0 0 59 30 50.8 58 25 43.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.62126166 1.143910484 2.291491944 1.488821826 1.488821826 1 NA NA 0 NA NA 0 5 NA 1 1 4.78E-53 1 4.44E-42 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 47137254 A T PCBP3 CCDS42974.2 r.? - - intronic 41 0 0 45 20 44.4 67 30 44.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.291023971 0.999795778 2.291491944 1.547545657 1.547545657 1 NA NA 0 NA NA 0 5 NA 1 1 2.68E-34 1 7.78E-51 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 47275299 C T PCBP3 CCDS42974.2 r.? - - intronic 34 0 0 68 30 44.1 44 18 40.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.275544079 0.993040401 2.291491944 1.412826281 1.412826281 1 NA NA 0 NA NA 0 5 NA 1 1 1.38E-50 1 3.47E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 47743418 G C PCNT CCDS33592.1 r.? - - upstream 34 0 0 40 21 52.5 35 16 45.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.708981046 1.182190953 2.291491944 1.578634744 1.578634744 1 NA NA 0 NA NA 0 5 NA 1 1 5.72E-38 1 5.66E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 47885984 C T DIP2A CCDS46655.1 r.? - - intronic 37 0 0 49 23 46.9 52 29 55.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 2.420023068 1.056090585 2.291491944 1.927523385 1.927523385 1 NA NA 0 NA NA 0 5 NA 1 1 6.14E-40 1 5.88E-53 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 16473376 C A - - - - - - 36 0 0 57 8 14 51 13 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.541586074 0.541586074 1 1.135857461 1.135857461 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-10 1 4.87E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 17293038 G A XKR3 CCDS42975.1 r.? - - intronic 40 0 0 31 8 25.8 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 17457972 G C GAB4 CCDS42976.1 r.? - - intronic 34 0 0 33 4 12.1 33 1 3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.468085106 0.468085106 1 0.13363029 0.13363029 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000228 1 0.15245715 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 17597982 C G CECR6 CCDS13740.1 r.4162g>c c.? p.? 3'UTR variant 19 0 0 44 12 27.3 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 18123233 G C BCL2L13 CCDS13746.1 r.? - - intronic 42 0 0 32 14 43.8 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.694390716 1.694390716 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 18936415 G T - - - - - - 22 0 0 31 6 19.4 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-08 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 18979910 A T - - - - - - 32 0 0 43 12 27.9 24 2 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 19127644 T C DGCR14 CCDS13756.1 r.? - - intronic 16 0 0 47 10 21.3 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.823984526 0.823984526 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 19454091 G T UFD1L CCDS13761.1 r.? - - intronic 27 0 0 47 19 40.4 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.562862669 1.562862669 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.16E-31 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 19487114 G T CDC45L CCDS13762.1 r.? - - intronic 38 0 0 30 10 33.3 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 19674423 A T ENSG00000227127 ENST00000447432 r.? - - intronic 38 0 0 39 11 28.2 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 19695687 G C ENSG00000227127 ENST00000447432 r.? - - intronic 32 0 0 36 5 13.9 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.537717602 0.537717602 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000104 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 19891356 C T TXNRD2 CCDS42981.1 r.? - - intronic 30 0 0 38 11 28.9 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 20023870 A C C22orf25 CCDS13772.1 r.? - - intronic 34 0 0 41 12 29.3 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 20067487 C A MIR1306 CCDS13773.1 r.? - - upstream 31 0 0 43 11 25.6 16 2 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 0.002863359 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 20093004 A G MIR1306 CCDS13773.1 r.? - - intronic 35 0 0 39 11 28.2 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 1.153674833 1.153674833 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 20180959 T C - - - - - - 27 0 0 36 6 16.7 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 20265428 A G - - - - - - 39 0 0 42 18 42.9 31 3 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.659574468 1.659574468 1 0.432071269 0.432071269 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-30 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 20277458 G A - - - - - - 25 0 0 33 5 15.2 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.588007737 0.588007737 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000066 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 20860055 C A MED15 CCDS33602.1 r.? - - upstream 22 0 0 29 7 24.1 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.932301741 0.932301741 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 20891101 G C MED15 CCDS33602.1 r.? - - intronic 36 0 0 35 10 28.6 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 21238112 A G SNAP29 CCDS13784.1 r.? - - intronic 23 0 0 42 10 23.8 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 22349950 A G - - - - - - 30 0 0 40 10 25 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 22382876 A T - - - - - - 25 0 0 33 9 27.3 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 22612744 A G - - - - - - 31 0 0 32 7 21.9 21 3 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.847195358 0.847195358 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 22733305 G T - - - - - - 40 0 0 48 15 31.2 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 2.86E-23 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 22805941 C G - - - - - - 41 0 0 37 7 18.9 50 14 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 4.84E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 22864153 T G ZNF280B CCDS13799.1 r.? - - upstream 36 0 0 29 9 31 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 22938315 T G - - - - - - 36 0 0 43 11 25.6 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 23018835 T C - - - - - - 42 0 0 37 6 16.2 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.626692456 0.626692456 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-08 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 23596029 C G BCR CCDS13806.1 r.2074c>g c.1323C>G p.D441E missense 28 0 0 30 7 23.3 42 10 23.8 247 0 0 334 72 21.6 6 6 100 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.06013363 1.06013363 1 0.835589942 0.835589942 1 4.454342984 4.454342984 1 5 4 1 1 1.44E-10 1.25E-92 1.24E-14 1.56E-14 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 23669670 T C - - - - - - 17 0 0 32 8 25 16 2 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 0.002863359 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 23750535 C T - - - - - - 37 0 0 38 6 15.8 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.611218569 0.611218569 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 23802238 G T - - - - - - 31 0 0 47 12 25.5 32 13 40.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 1.808463252 1.808463252 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 24026306 T A RGL4 ENST00000401461 r.? - - upstream 20 0 0 42 14 33.3 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.828507795 0.828507795 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-22 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 24045285 T G RGL4 CCDS13811.1 r.? - - downstream 22 0 0 48 11 22.9 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 9.31E-16 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 24045286 C A RGL4 CCDS13811.1 r.? - - downstream 21 0 0 49 11 22.4 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.866537718 0.866537718 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 24229369 T G SLC2A11 CCDS46673.1 r.? - - downstream 27 0 0 44 11 25 24 2 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 24248415 G T - - - - - - 28 0 0 37 10 27 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 24503885 G A CABIN1 CCDS13823.1 r.? - - intronic 32 0 0 34 10 29.4 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 24598077 G T - - - - - - 30 0 0 48 16 33.3 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 2.96E-25 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 24889635 T C UPB1 CCDS13827.1 r.? - - upstream 41 0 0 44 13 29.5 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 1.429844098 1.429844098 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 25036649 G C - - - - - - 28 0 0 35 7 20 31 10 32.3 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.438752784 1.438752784 1 0 0 1 NA NA 1 5 NA 1 1 4.65E-10 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 25044151 C T - - - - - - 25 1 4 40 10 25 37 2 5.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.240534521 0.240534521 1 NA NA 1 NA NA 1 5 NA 0.117779757 1 7.22E-15 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 25373988 G T - - - - - - 29 0 0 39 6 15.4 29 12 41.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 1.844097996 1.844097996 1 NA NA 1 NA NA 1 5 NA 1 1 4.43E-08 1 1.17E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 25427983 C A KIAA1671 CCDS46676.1 r.? - - intronic 41 0 0 45 12 26.7 28 3 10.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 0.476614699 0.476614699 1 NA NA 1 NA NA 1 5 NA 1 1 6.03E-18 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 25445986 G C KIAA1671 CCDS46676.1 r.? - - intronic 37 0 0 34 5 14.7 46 16 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.568665377 0.568665377 1 1.550111359 1.550111359 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 1.31E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 25472578 A C KIAA1671 CCDS46676.1 r.? - - intronic 23 0 0 46 9 19.6 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 25693167 T A - - - - - - 28 0 0 39 11 28.2 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 26191042 G T MYO18B ENST00000335473 r.? - - intronic 27 0 0 38 11 28.9 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 26353278 T C MYO18B ENST00000335473 r.? - - intronic 44 0 0 39 10 25.6 46 12 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.162583519 1.162583519 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 8.12E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 26398098 G C MYO18B ENST00000335473 r.? - - intronic 39 0 0 52 5 9.6 56 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.371373308 0.371373308 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000668 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 26451471 A T - - - - - - 28 0 0 33 12 36.4 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.408123791 1.408123791 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 26648070 C T SEZ6L CCDS13833.1 r.? - - intronic 28 0 0 32 5 15.6 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000562 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 26677045 T A SEZ6L CCDS13833.1 r.? - - intronic 46 0 0 52 14 26.9 35 13 37.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.040618956 1.040618956 1 1.652561247 1.652561247 1 NA NA 1 NA NA 1 5 NA 1 1 9.04E-21 1 1.63E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 26953312 C G TPST2 CCDS13839.1 r.? - - intronic 29 0 0 29 10 34.5 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.334622824 1.334622824 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 27048569 C G - - - - - - 28 0 0 38 10 26.3 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 1.318485523 1.318485523 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 27378816 G C - - - - - - 35 0 0 35 5 14.3 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 27575918 C A - - - - - - 31 0 0 55 13 23.6 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.912959381 0.912959381 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 1.46E-18 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 27723750 C G - - - - - - 37 0 0 45 13 28.9 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 7.68E-20 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 27765437 C G - - - - - - 31 0 0 41 5 12.2 27 1 3.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.471953578 0.471953578 1 0.16481069 0.16481069 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000202 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 27774822 A C - - - - - - 30 0 0 34 8 23.5 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 28373927 C T TTC28 CCDS46678.1 r.? - - downstream 25 0 0 28 9 32.1 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.241779497 1.241779497 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 28479992 A C TTC28 CCDS46678.1 r.? - - intronic 31 0 0 39 11 28.2 47 11 23.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 1.042316258 1.042316258 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 28508642 C T TTC28 CCDS46678.1 r.? - - intronic 30 0 0 34 8 23.5 23 4 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 0.775055679 0.775055679 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 28759239 T G TTC28 CCDS46678.1 r.? - - intronic 35 0 0 37 7 18.9 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 28803344 C A TTC28 CCDS46678.1 r.? - - intronic 34 0 0 40 16 40 53 10 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.547388781 1.547388781 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 8.56E-27 1 1.57E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 28846575 C G TTC28 CCDS46678.1 r.? - - intronic 40 0 0 29 4 13.8 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.53384913 0.53384913 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000134 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 29068306 C G TTC28 CCDS46678.1 r.? - - intronic 23 0 0 30 6 20 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 8.37E-09 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 29251788 A C - - - - - - 18 0 0 28 7 25 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 29661019 G T EWSR1 CCDS13851.1 r.? - - upstream 28 0 0 41 10 24.4 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 29814206 C A AP1B1 ENST00000415447 r.? - - intronic 23 0 0 31 6 19.4 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-08 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 30064364 A G NF2 CCDS13861.1 r.1369a>g c.928A>G p.R310G missense 19 0 0 44 12 27.3 33 7 21.2 205 0 0 116 38 32.8 50 6 12 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.944320713 0.944320713 1 1.268858801 1.268858801 1 0.534521158 0.534521158 1 5 6 1 1 4.44E-18 1.42E-57 2.98E-10 0.000000206 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 22 30082669 T A NF2 CCDS13861.1 r.? - - intronic 41 0 0 57 12 21.1 34 13 38.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 1.70155902 1.70155902 1 NA NA 1 NA NA 1 5 NA 1 1 1.4E-16 1 1.03E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 30091555 C T NF2 CCDS13861.1 r.2993c>u c.? p.? 3'UTR variant 25 0 0 38 10 26.3 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 30175938 C T - - - - - - 27 0 0 32 9 28.1 35 4 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 0.5077951 0.5077951 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 30287462 C T MTMR3 CCDS13871.1 r.? - - intronic 39 0 0 40 14 35 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.353965184 1.353965184 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-22 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 30345462 G A MTMR3 CCDS13871.1 r.? - - intronic 17 0 0 30 10 33.3 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 30471578 C G HORMAD2 CCDS46683.1 r.? - - upstream 38 0 0 31 10 32.3 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 30606492 T A HORMAD2 ENST00000481990 r.? - - intronic 27 0 0 36 15 41.7 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.613152805 1.613152805 1 1.781737194 1.781737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-25 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 30715898 G A TBC1D10A CCDS13874.1 r.? - - intronic 32 0 0 39 8 20.5 41 14 34.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.518930958 1.518930958 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 1.9E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 31032628 C G SLC35E4 CCDS13882.1 r.990c>g c.191C>G p.S64* nonsense 22 0 0 40 10 25 14 2 14.3 153 0 0 205 34 16.6 4 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.636971047 0.636971047 1 0.642166344 0.642166344 1 0 0 1 5 5 1 1 7.22E-15 1.88E-40 0.002185852 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 31259962 T G OSBP2 CCDS43002.1 r.? - - intronic 24 0 0 45 8 17.8 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.688588008 0.688588008 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 31396463 A T - - - - - - 41 0 0 43 10 23.3 46 13 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.260579065 1.260579065 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 31401817 G T - - - - - - 32 0 0 34 7 20.6 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 31885903 G A EIF4ENIF1 CCDS13898.1 r.? - - upstream 28 0 0 30 10 33.3 3 1 33.3 2 0 0 1 1 100 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.483296214 1.483296214 1 3.868471954 3.868471954 1 NA NA 1 5 NA 1 1 2.68E-16 0.005 0.014925125 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 32203057 T G DEPDC5 CCDS43006.1 r.? - - intronic 37 0 0 50 12 24 28 2 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.928433269 0.928433269 1 0.316258352 0.316258352 1 NA NA 1 NA NA 1 5 NA 1 1 2.49E-17 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 32448587 C A SLC5A1 CCDS13902.1 r.? - - intronic 30 0 0 31 13 41.9 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.620889749 1.620889749 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 32747930 G A RFPL3 CCDS13904.1 r.? - - upstream 18 0 0 28 9 32.1 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.241779497 1.241779497 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 32992677 G T SYN3 CCDS13908.1 r.1000c>a c.757C>A p.H253N missense 32 0 0 32 8 25 32 4 12.5 230 0 0 145 12 8.3 26 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.556792873 0.556792873 1 0.321083172 0.321083172 1 0 0 1 5 2 1 1 3.69E-12 1.49E-11 0.0000201 1 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9776b 22 33341154 T G SYN3 CCDS13908.1 r.? - - intronic 35 0 0 39 10 25.6 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 33430271 G T SYN3 CCDS13908.1 r.? - - intronic 27 0 0 29 11 37.9 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.46615087 1.46615087 1 1.300668151 1.300668151 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 33479574 T G - - - - - - 30 0 0 54 12 22.2 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-17 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 33508646 G T - - - - - - 44 0 0 50 11 22 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 1.135857461 1.135857461 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 33988903 G T LARGE CCDS13912.1 r.? - - intronic 42 0 0 43 14 32.6 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 34276556 A G LARGE CCDS13912.1 r.? - - intronic 26 0 0 32 6 18.8 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 34365008 A G - - - - - - 39 0 0 47 13 27.7 17 4 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.071566731 1.071566731 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-19 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 34395822 T C - - - - - - 37 0 0 35 20 57.1 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 2.208897485 2.208897485 1 1.011135857 1.011135857 1 NA NA 1 NA NA 1 5 NA 1 1 2.88E-37 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 34520034 G C - - - - - - 21 0 0 54 10 18.5 43 13 30.2 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.715667311 0.715667311 1 1.345211581 1.345211581 1 NA NA 1 0 0 1 5 NA 1 1 1.91E-13 1 3.88E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 34655509 A G - - - - - - 35 0 0 44 10 22.7 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 34763201 T C - - - - - - 34 0 0 44 11 25 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 34874005 T G - - - - - - 28 0 0 32 9 28.1 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 34986827 C A - - - - - - 34 0 0 37 6 16.2 24 3 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.626692456 0.626692456 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-08 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 35022095 G T - - - - - - 21 0 0 28 7 25 3 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 35254854 A T - - - - - - 36 0 0 29 9 31 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 35605950 A C - - - - - - 34 0 0 51 10 19.6 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-13 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 36260543 C G RBM9 CCDS43013.1 r.? - - intronic 34 0 0 35 10 28.6 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 36422540 C T RBM9 CCDS43013.1 r.? - - intronic 28 0 0 42 8 19 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.735009671 0.735009671 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 36598893 C A APOL4 ENST00000405511 r.? - - intronic 25 0 0 42 9 21.4 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 36866665 G A TXN2 CCDS13928.1 r.? - - intronic 36 0 0 42 10 23.8 45 4 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.396436526 0.396436526 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 36993048 C G CACNG2 CCDS13931.1 r.? - - intronic 35 0 0 45 10 22.2 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 37449737 G A KCTD17 CCDS13940.2 r.? - - intronic 27 0 0 33 7 21.2 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 0.779510022 0.779510022 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 37513922 T G IL2RB ENST00000447922 r.? - - downstream 14 0 0 28 8 28.6 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 37599166 C G SSTR3 CCDS13944.1 r.? - - downstream 26 0 0 35 16 45.7 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.767891683 1.767891683 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 5.66E-28 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 37820624 T A ELFN2 CCDS33642.1 r.? - - intronic 19 0 0 36 5 13.9 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.537717602 0.537717602 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000104 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 37890253 G A CARD10 CCDS13948.1 r.? - - intronic 29 0 0 42 14 33.3 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-22 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 38002313 G A GGA1 CCDS13951.1 r.? - - upstream 35 0 0 51 17 33.3 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 9.59E-27 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 38088220 C G NOL12 CCDS13955.1 r.1589c>g c.? p.? 3'UTR variant 23 0 0 36 11 30.6 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 38608730 C G MAFF CCDS13968.1 r.? - - intronic 34 0 0 43 15 34.9 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.350096712 1.350096712 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 4.05E-24 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 38689953 C G CSNK1E CCDS13970.1 r.? - - intronic 33 0 0 47 7 14.9 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.576402321 0.576402321 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 4.12E-09 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 38826936 G C KCNJ4 CCDS13971.1 r.? - - intronic 34 0 0 39 7 17.9 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.581291759 1.581291759 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 39280767 C T - - - - - - 35 0 0 36 8 22.2 30 6 20 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 39454890 T A APOBEC3F CCDS33648.1 r.? - - downstream 22 0 0 38 11 28.9 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 39529776 C A CBX7 CCDS13986.1 r.1082g>u c.? p.? 3'UTR variant 25 0 0 50 13 26 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.005802708 1.005802708 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 3.65E-19 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 40089483 G A CACNA1I CCDS46710.1 r.? - - downstream 24 0 0 38 8 21.1 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 40293672 C T GRAP2 CCDS13999.1 r.? - - upstream 29 0 0 43 10 23.3 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 40616606 A T TNRC6B CCDS46713.1 r.? - - intronic 26 0 0 42 7 16.7 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 40678616 G A TNRC6B CCDS46713.1 r.? - - intronic 40 0 0 37 10 27 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 40785467 G A SGSM3 CCDS14002.1 r.? - - intronic 27 0 0 24 6 25 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.95E-09 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 40982991 C T MKL1 CCDS14003.1 r.? - - intronic 24 0 0 38 8 21.1 33 13 39.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 1.755011136 1.755011136 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 41215652 A G FAM10A4 CCDS14006.1 r.? - - downstream 35 0 0 30 7 23.3 15 4 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 0.000000816 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 41390960 T A - - - - - - 19 0 0 36 12 33.3 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 41920367 G C POLR3H CCDS14018.1 r.? - - downstream 34 0 0 42 11 26.2 30 3 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.013539652 1.013539652 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 42127410 T G MEI1 CCDS46718.1 r.? - - intronic 33 0 0 31 9 29 32 3 9.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 0.418708241 0.418708241 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 42131726 G T MEI1 CCDS46718.1 r.? - - intronic 27 0 0 30 8 26.7 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 42264089 T C SREBF2 CCDS14023.1 r.? - - intronic 28 0 0 33 7 21.2 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 42727880 G A - - - - - - 37 0 0 41 13 31.7 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 43084662 G T A4GALT CCDS14041.1 r.? - - downstream 31 0 0 42 8 19 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.735009671 0.735009671 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 43496576 G A - - - - - - 28 0 0 49 12 24.5 37 4 10.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.947775629 0.947775629 1 0.481069042 0.481069042 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 43752995 C A - - - - - - 29 0 0 36 11 30.6 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 43832181 C T MPPED1 CCDS46723.1 r.? - - intronic 29 0 0 28 7 25 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 44188316 G T EFCAB6 CCDS14049.1 r.? - - intronic 30 0 0 40 11 27.5 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 44215248 G A - - - - - - 39 0 0 48 12 25 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.590200445 1.590200445 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-17 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 44475742 T C PARVB CCDS14056.1 r.? - - intronic 20 0 0 34 7 20.6 43 13 30.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 1.345211581 1.345211581 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 3.88E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 44516969 C A PARVB CCDS14056.1 r.? - - intronic 36 1 2.8 51 16 31.4 29 11 37.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 1.688195991 1.688195991 1 NA NA 1 NA NA 1 5 NA 0.165106833 1 9.28E-25 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 44642555 A C KIAA1644 CCDS43025.1 r.3743u>g c.? p.? 3'UTR variant 27 0 0 40 11 27.5 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 44764175 G C ENSG00000220702 ENST00000406912 r.? - - downstream 31 0 0 44 17 38.6 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.493230174 1.493230174 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 4.61E-28 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 44851241 C A - - - - - - 32 0 0 37 8 21.6 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 44878496 A G - - - - - - 41 0 0 44 12 27.3 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 44882981 A G - - - - - - 29 0 0 38 10 26.3 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 45010874 G A - - - - - - 23 0 0 32 5 15.6 32 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000562 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 45079295 C T PRR5 CCDS14059.1 r.? - - intronic 21 0 0 40 9 22.5 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 45281070 G A PHF21B CCDS14061.1 r.? - - intronic 38 0 0 30 5 16.7 23 4 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.775055679 0.775055679 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 45319490 T A PHF21B CCDS14061.1 r.? - - intronic 30 0 0 38 14 36.8 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.423597679 1.423597679 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 45416172 G A - - - - - - 33 0 0 37 12 32.4 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 45679954 C G UPK3A CCDS14064.1 r.? - - upstream 25 0 0 34 11 32.4 24 7 29.2 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 1.300668151 1.300668151 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 45727537 T A FAM118A CCDS14065.1 r.? - - intronic 23 0 0 33 8 24.2 36 10 27.8 0 0 NA 1 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 1.23830735 1.23830735 1 0 0 1 NA NA 1 5 NA 1 1 4.85E-12 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 45957330 C T FBLN1 CCDS14067.1 r.? - - intronic 34 0 0 49 18 36.7 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.419729207 1.419729207 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 3.8E-29 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 46022582 G C - - - - - - 30 0 0 37 11 29.7 39 13 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.14893617 1.14893617 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 8.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 46188761 T C ATXN10 CCDS14070.1 r.? - - intronic 36 0 0 33 9 27.3 50 10 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 46431781 G C - - - - - - 30 0 0 22 10 45.5 2 0 0 0 0 NA 1 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.760154739 1.760154739 1 0 0 1 0 0 1 NA NA 1 5 NA 1 1 5.98E-18 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 46926102 G T CELSR1 CCDS14076.1 r.? - - intronic 30 0 0 43 9 20.9 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.808510638 0.808510638 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 47006630 C A AL021392.1 ENST00000502868 r.? - - downstream 35 0 0 37 7 18.9 27 3 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 47241869 G T TBC1D22A CCDS14078.1 r.? - - intronic 30 0 0 45 10 22.2 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.527839644 1.527839644 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 47677689 C A - - - - - - 39 0 0 42 9 21.4 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 47943177 T G - - - - - - 28 0 0 41 6 14.6 33 14 42.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.564796905 0.564796905 1 1.888641425 1.888641425 1 NA NA 1 NA NA 1 5 NA 1 1 6.05E-08 1 4.57E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 48028365 C A - - - - - - 40 0 0 32 9 28.1 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 48028366 C A - - - - - - 39 0 0 33 10 30.3 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 48085794 A G - - - - - - 35 0 0 53 11 20.8 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 3.07E-15 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 48152363 G T - - - - - - 30 0 0 34 9 26.5 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 48450694 G A - - - - - - 32 0 0 39 11 28.2 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 1.398663697 1.398663697 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 48531712 G A - - - - - - 38 0 0 43 9 20.9 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.808510638 0.808510638 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 48714122 G A - - - - - - 28 0 0 26 10 38.5 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.489361702 1.489361702 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 49134629 A T FAM19A5 CCDS46729.1 r.? - - intronic 26 0 0 21 8 38.1 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.473887814 1.473887814 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 7.5E-14 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 49341032 G T - - - - - - 23 0 0 54 9 16.7 18 6 33.3 0 0 NA 1 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.483296214 1.483296214 1 0 0 1 NA NA 1 5 NA 1 1 8.48E-12 1 2.75E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 49474634 G A - - - - - - 35 0 0 35 8 22.9 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 49749525 T C - - - - - - 36 0 0 47 17 36.2 35 2 5.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.400386847 1.400386847 1 0.25389755 0.25389755 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-27 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 49790649 C A - - - - - - 19 0 0 31 10 32.3 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 49821416 C A - - - - - - 28 0 0 37 8 21.6 27 5 18.5 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.824053452 0.824053452 1 NA NA 1 0 0 1 5 NA 1 1 1.33E-11 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 50106690 T G - - - - - - 35 0 0 44 13 29.5 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 50738912 C A PLXNB2 CCDS43035.1 r.? - - intronic 30 0 0 41 11 26.8 13 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 70781 G A - - - - - - 21 0 0 55 11 20 53 6 11.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.173694391 1.173694391 1 0.729340757 0.729340757 1 NA NA 1 NA NA 1 5 NA 1 1 4.77E-15 1 0.000000293 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 278710 C A CHL1 CCDS2556.1 r.? - - intronic 34 0 0 70 16 22.9 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.343880077 1.343880077 1 0.877790646 0.877790646 1 NA NA 1 NA NA 1 5 NA 1 1 2.93E-22 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 292537 T A CHL1 CCDS2556.1 r.? - - intronic 28 0 0 56 6 10.7 63 4 6.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.627926499 0.627926499 1 0.406623608 0.406623608 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000409 1 0.000294233 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 345773 T A CHL1 CCDS2556.1 r.? - - intronic 37 0 0 57 9 15.8 54 6 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.927218569 0.927218569 1 0.716432071 0.716432071 1 NA NA 1 NA NA 1 5 NA 1 1 1.42E-11 1 0.000000329 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 407025 A T CHL1 CCDS2556.1 r.? - - intronic 39 0 0 68 13 19.1 53 6 11.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.120878143 1.120878143 1 0.729340757 0.729340757 1 NA NA 1 NA NA 1 5 NA 1 1 2.96E-17 1 0.000000293 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 471901 A T - - - - - - 43 0 0 60 19 31.7 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.860305609 0.930152805 2 1.381229399 1.381229399 1 NA NA 1 NA NA 1 5 NA 1 1 3.21E-29 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 590115 T A - - - - - - 32 0 0 57 9 15.8 55 8 14.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.927218569 0.927218569 1 0.935879733 0.935879733 1 NA NA 1 NA NA 1 5 NA 1 1 1.42E-11 1 3.86E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 788894 G T - - - - - - 27 0 0 50 8 16 59 10 16.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.938955513 0.938955513 1 1.090783964 1.090783964 1 NA NA 1 NA NA 1 5 NA 1 1 1.74E-10 1 4.91E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 803682 C A - - - - - - 28 0 0 52 22 42.3 52 15 28.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.482363636 1.241181818 2 1.85885078 0.92942539 2 NA NA 1 NA NA 1 5 NA 1 1 5.59E-37 1 1.15E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 1174795 C T CNTN6 CCDS2557.1 r.? - - intronic 28 0 0 52 7 13.5 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.792243714 0.792243714 1 1.077875278 1.077875278 1 NA NA 1 NA NA 1 5 NA 1 1 8.58E-09 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 1616402 T C - - - - - - 50 0 0 69 13 18.8 56 4 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.103272727 1.103272727 1 0.458258352 0.458258352 1 NA NA 1 NA NA 1 5 NA 1 1 3.64E-17 1 0.000186538 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 1679830 A T - - - - - - 51 0 0 53 15 28.3 61 25 41 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.660777563 0.830388781 2 2.646280624 1.323140312 2 NA NA 1 NA NA 1 5 NA 1 1 1.6E-22 1 2.2E-41 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 2105766 C T - - - - - - 30 0 0 61 10 16.4 55 11 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.9624294 0.9624294 1 1.290868597 1.290868597 1 NA NA 1 NA NA 1 5 NA 1 1 6.98E-13 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 2147100 T C CNTN4 CCDS43041.1 r.? - - intronic 24 0 0 65 6 9.2 43 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.53989942 0.53989942 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000001 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 2148124 C T CNTN4 CCDS43041.1 r.? - - intronic 30 0 0 60 7 11.7 58 1 1.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.686611219 0.686611219 1 0.109723831 0.109723831 1 NA NA 1 NA NA 1 3 NA 1 1 2.39E-08 1 0.252280541 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 2335812 G A CNTN4 CCDS43041.1 r.? - - intronic 26 0 0 51 18 35.3 41 14 34.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.0715706 1.0357853 2 2.200930958 1.100465479 2 NA NA 1 NA NA 1 5 NA 1 1 9.1E-29 1 1.9E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 2392758 G A CNTN4 CCDS43041.1 r.? - - intronic 25 0 0 62 8 12.9 51 8 15.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.757032882 0.757032882 1 1.013331849 1.013331849 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 2.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 2446970 C T CNTN4 CCDS43041.1 r.? - - intronic 23 0 0 65 23 35.4 64 25 39.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.077439072 1.038719536 2 2.523648107 1.261824053 2 NA NA 1 NA NA 1 5 NA 1 1 2.21E-36 1 9.9E-41 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 2679269 A G CNTN4 CCDS43041.1 r.? - - intronic 31 0 0 59 14 23.7 53 4 7.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.390827853 1.390827853 1 0.484075724 0.484075724 1 NA NA 1 NA NA 1 5 NA 1 1 6.58E-20 1 0.000150502 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 2812775 C A CNTN4 CCDS43041.1 r.? - - intronic 35 0 0 43 9 20.9 50 10 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.226510638 1.226510638 1 1.290868597 1.290868597 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 2916797 G C CNTN4 CCDS43041.1 r.? - - intronic 27 1 3.7 46 11 23.9 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.402564797 1.402564797 1 1.148873051 1.148873051 1 NA NA 1 NA NA 1 5 NA 0.126579904 1 5.55E-16 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 3054374 T A CNTN4 CCDS43041.1 r.? - - intronic 34 0 0 47 5 10.6 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.622058027 0.622058027 1 1.652311804 1.652311804 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000402 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 3284523 C A - - - - - - 27 0 0 78 13 16.7 41 8 19.5 1 0 0 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.980034816 0.980034816 1 1.258596882 1.258596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.99E-16 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 3358370 C A - - - - - - 36 0 0 48 7 14.6 60 10 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.856796905 0.856796905 1 1.077875278 1.077875278 1 NA NA 1 NA NA 1 5 NA 1 1 4.81E-09 1 5.86E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 3363155 C A - - - - - - 31 0 0 60 5 8.3 51 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.487083172 0.487083172 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000136 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 3479055 T G - - - - - - 39 0 0 50 7 14 54 8 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.821586074 0.821586074 1 0.955242762 0.955242762 1 NA NA 1 NA NA 1 5 NA 1 1 6.46E-09 1 3.31E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 3490050 G T - - - - - - 30 0 0 45 8 17.8 60 8 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.044588008 1.044588008 1 0.858427617 0.858427617 1 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 7.93E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 3551912 G C - - - - - - 38 0 0 65 10 15.4 69 10 14.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.903744681 0.903744681 1 0.935879733 0.935879733 1 NA NA 1 NA NA 1 5 NA 1 1 1.36E-12 1 2.54E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 3563048 A G - - - - - - 35 0 0 60 13 21.7 54 4 7.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.273458414 1.273458414 1 0.477621381 0.477621381 1 NA NA 1 NA NA 1 5 NA 1 1 5.07E-18 1 0.000161898 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 3615295 C T - - - - - - 33 0 0 62 10 16.1 52 7 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.944823985 0.944823985 1 0.871336303 0.871336303 1 NA NA 1 NA NA 1 5 NA 1 1 8.29E-13 1 8.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 3642673 C A - - - - - - 44 0 0 57 17 29.8 54 21 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.748804642 0.874402321 2 2.510739421 1.25536971 2 NA NA 1 NA NA 1 5 NA 1 1 8.82E-26 1 2.12E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 3672945 G A - - - - - - 31 0 0 49 8 16.3 60 3 5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.956560928 0.956560928 1 0.322717149 0.322717149 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-10 1 0.003458198 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 3725707 T C - - - - - - 34 0 0 56 7 12.5 49 3 6.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.733558994 0.733558994 1 0.393714922 0.393714922 1 NA NA 1 NA NA 1 5 NA 1 1 1.46E-08 1 0.001939399 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 3791149 T A - - - - - - 28 0 0 45 6 13.3 42 3 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.78050677 0.78050677 1 0.458258352 0.458258352 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000108 1 0.001240292 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 3791150 A C - - - - - - 26 0 0 47 6 12.8 44 4 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.75116441 0.75116441 1 0.587345212 0.587345212 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000141 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 4447441 G T SUMF1 CCDS2564.1 r.? - - intronic 41 0 0 64 22 34.4 46 13 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.018754352 1.009377176 2 1.826579065 0.913289532 2 NA NA 1 NA NA 1 5 NA 1 1 1.57E-34 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 4555473 A T ITPR1 CCDS46740.1 r.? - - intronic 27 0 0 61 9 14.8 52 9 17.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.868533849 0.868533849 1 1.116601336 1.116601336 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-11 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 4807918 T C ITPR1 CCDS46740.1 r.? - - intronic 28 0 0 64 15 23.4 48 7 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.373222437 1.373222437 1 0.942334076 0.942334076 1 NA NA 1 NA NA 1 5 NA 1 1 3.87E-21 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 5026798 C G BHLHE40 CCDS2565.1 r.3263c>g c.? p.? 3'UTR variant 32 0 0 50 15 30 47 14 29.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.760541586 0.880270793 2 1.923394209 0.961697105 2 NA NA 1 NA NA 1 5 NA 1 1 5.83E-23 1 1.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 5030447 C A BHLHE40 CCDS2565.1 r.? - - downstream 20 0 0 55 9 16.4 38 4 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.9624294 0.9624294 1 0.677706013 0.677706013 1 NA NA 1 NA NA 1 5 NA 1 1 1.01E-11 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 5058101 T A - - - - - - 30 0 0 39 8 20.5 59 6 10.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.20303675 1.20303675 1 0.658342984 0.658342984 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 0.000000561 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 5232912 T C EDEM1 CCDS33686.1 r.? - - intronic 30 0 0 48 20 41.7 56 19 33.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.447152805 1.223576402 2 2.188022272 1.094011136 2 NA NA 1 NA NA 1 5 NA 1 1 1.4E-33 1 6.79E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 5271146 C T - - - - - - 29 0 0 55 10 18.2 52 9 17.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.068061896 1.068061896 1 1.116601336 1.116601336 1 NA NA 1 NA NA 1 5 NA 1 1 2.33E-13 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 5491716 T G - - - - - - 43 0 0 70 11 15.7 62 6 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.921350097 0.921350097 1 0.626071269 0.626071269 1 NA NA 1 NA NA 1 5 NA 1 1 8.06E-14 1 0.000000756 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 5557859 G T - - - - - - 39 0 0 43 18 41.9 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.458889749 1.229444874 2 1.897576837 0.948788419 2 NA NA 1 NA NA 1 5 NA 1 1 2.06E-30 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 5674924 A T - - - - - - 36 0 0 59 19 32.2 57 21 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.889647969 0.944823985 2 2.375198218 1.187599109 2 NA NA 1 NA NA 1 5 NA 1 1 2.2E-29 1 8.56E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 5847536 G T - - - - - - 35 0 0 70 13 18.6 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.091535783 1.091535783 1 1.026240535 1.026240535 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-17 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 5890191 T A - - - - - - 23 0 0 70 12 17.1 41 9 22 0 0 NA 1 0 0 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.003508704 1.003508704 1 1.419955457 1.419955457 1 0 0 1 NA NA 1 5 NA 1 1 1.99E-15 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 5961038 G A - - - - - - 29 0 0 49 12 24.5 52 14 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.437775629 1.437775629 1 1.736218263 0.868109131 2 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 9.04E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 6218939 A G - - - - - - 31 0 0 60 17 28.3 57 17 29.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.660777563 0.830388781 2 1.923394209 0.961697105 2 NA NA 1 NA NA 1 5 NA 1 1 2.41E-25 1 8.82E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 6269007 C A - - - - - - 30 0 0 56 9 16.1 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.944823985 0.944823985 1 1.174690423 1.174690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-11 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 6364766 C A - - - - - - 37 0 0 65 25 38.5 49 16 32.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.259361702 1.129680851 2 2.110570156 1.055285078 2 NA NA 1 NA NA 1 5 NA 1 1 1.6E-40 1 4.37E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 6414127 C A - - - - - - 36 0 0 55 7 12.7 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.745295938 0.745295938 1 1.200507795 1.200507795 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-08 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 6457383 T A - - - - - - 39 0 0 48 22 45.8 56 14 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.687760155 1.343880077 2 1.613585746 0.806792873 2 NA NA 1 NA NA 1 5 NA 1 1 5.76E-38 1 2.91E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 6546724 G T - - - - - - 38 0 0 64 10 15.6 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.915481625 0.915481625 1 0.903608018 0.903608018 1 NA NA 1 NA NA 1 5 NA 1 1 1.16E-12 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 6595635 T C - - - - - - 28 0 0 53 7 13.2 56 8 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.774638298 0.774638298 1 0.922971047 0.922971047 1 NA NA 1 NA NA 1 5 NA 1 1 9.85E-09 1 4.48E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 6759237 C T - - - - - - 23 0 0 69 20 29 56 11 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.701856867 0.850928433 2 1.265051225 1.265051225 1 NA NA 1 NA NA 1 5 NA 1 1 8.73E-30 1 5.91E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 6898411 G T GRM7 CCDS43042.1 r.? - - upstream 30 0 0 44 8 18.2 45 4 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.068061896 1.068061896 1 0.574436526 0.574436526 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 7009145 G A GRM7 CCDS43042.1 r.? - - intronic 37 0 0 63 12 19 67 21 31.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.115009671 1.115009671 1 2.020209354 1.010104677 2 NA NA 1 NA NA 1 5 NA 1 1 5.15E-16 1 4.96E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 7142604 G T GRM7 CCDS43042.1 r.? - - intronic 33 0 0 61 10 16.4 61 11 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.9624294 0.9624294 1 1.161781737 1.161781737 1 NA NA 1 NA NA 1 5 NA 1 1 6.98E-13 1 1.62E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 7165871 A T GRM7 CCDS43042.1 r.? - - intronic 22 0 0 70 19 27.1 52 7 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.590355899 0.79517795 2 0.871336303 0.871336303 1 NA NA 1 NA NA 1 5 NA 1 1 9.5E-28 1 8.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 7173478 G C GRM7 CCDS43042.1 r.? - - intronic 30 0 0 55 19 34.5 64 15 23.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.024622824 1.012311412 2 1.510316258 1.510316258 1 NA NA 1 NA NA 1 5 NA 1 1 4.51E-30 1 3.87E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 7221672 T G GRM7 CCDS43042.1 r.? - - intronic 30 0 0 50 12 24 49 9 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.408433269 1.408433269 1 1.187599109 1.187599109 1 NA NA 1 NA NA 1 5 NA 1 1 2.49E-17 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 7277700 C T GRM7 CCDS43042.1 r.? - - intronic 28 0 0 50 19 38 54 15 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.230019342 1.115009671 2 1.79430735 0.897153675 2 NA NA 1 NA NA 1 5 NA 1 1 5E-31 1 2.2E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 7446379 A G GRM7 CCDS43042.1 r.? - - intronic 30 0 0 54 8 14.8 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.868533849 0.868533849 1 1.052057906 1.052057906 1 NA NA 1 NA NA 1 5 NA 1 1 3.31E-10 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 7460701 C T GRM7 CCDS43042.1 r.? - - intronic 38 0 0 69 9 13 51 12 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.762901354 0.762901354 1 1.516770601 1.516770601 1 NA NA 1 NA NA 1 5 NA 1 1 8.45E-11 1 3.24E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 7531749 C T GRM7 CCDS43042.1 r.? - - intronic 40 0 0 50 18 36 65 24 36.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.112649903 1.056324952 2 2.381652561 1.190826281 2 NA NA 1 NA NA 1 5 NA 1 1 5.92E-29 1 1.94E-38 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 7597465 C G GRM7 CCDS43042.1 r.? - - intronic 36 0 0 44 16 36.4 41 13 31.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.136123791 1.068061896 2 2.046026726 1.023013363 2 NA NA 1 NA NA 1 5 NA 1 1 5.57E-26 1 1.89E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 7950417 T G - - - - - - 41 0 0 66 11 16.7 61 9 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.980034816 0.980034816 1 0.955242762 0.955242762 1 NA NA 1 NA NA 1 5 NA 1 1 4.07E-14 1 2.68E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 8015326 A T - - - - - - 26 0 0 55 12 21.8 61 15 24.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.279326886 1.279326886 1 1.587768374 0.793884187 2 NA NA 1 NA NA 1 5 NA 1 1 8.78E-17 1 1.73E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 8356465 G A ENSG00000234563 ENST00000446572 r.? - - intronic 34 0 0 42 9 21.4 53 12 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.255852998 1.255852998 1 1.458681514 1.458681514 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 5.39E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 8412522 G C ENSG00000234563 ENST00000446572 r.? - - intronic 41 0 0 63 16 25.4 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.490591876 1.490591876 1 1.052057906 1.052057906 1 NA NA 1 NA NA 1 5 NA 1 1 4.48E-23 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 8464735 A G ENSG00000234563 ENST00000446572 r.? - - intronic 39 0 0 62 10 16.1 58 10 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.944823985 0.944823985 1 1.110146993 1.110146993 1 NA NA 1 NA NA 1 5 NA 1 1 8.29E-13 1 4.1E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 8666746 C G C3orf32 CCDS2568.1 r.? - - intronic 22 0 0 54 8 14.8 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.868533849 0.868533849 1 0.839064588 0.839064588 1 NA NA 1 NA NA 1 5 NA 1 1 3.31E-10 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 8883694 G A RAD18 ENST00000427329 r.? - - intronic 34 0 0 77 7 9.1 57 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.534030948 0.534030948 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000138 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 9011321 G A - - - - - - 43 0 0 54 19 35.2 65 19 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.065702128 1.032851064 2 1.884668151 0.942334076 2 NA NA 1 NA NA 1 5 NA 1 1 2.97E-30 1 1.89E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 9117351 A T SRGAP3 CCDS33689.1 r.? - - intronic 33 0 0 67 10 14.9 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.874402321 0.874402321 1 1.252142539 1.252142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.87E-12 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 9372233 C A - - - - - - 41 0 0 62 11 17.7 58 11 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.038719536 1.038719536 1 1.226325167 1.226325167 1 NA NA 1 NA NA 1 5 NA 1 1 1.96E-14 1 8.96E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 9403146 A T THUMPD3 CCDS2573.1 r.? - - upstream 29 0 0 59 7 11.9 70 12 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.698348162 0.698348162 1 1.10369265 1.10369265 1 NA NA 1 NA NA 1 5 NA 1 1 2.12E-08 1 1.99E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 9490649 G A SETD5 CCDS46741.1 r.? - - intronic 28 0 0 60 12 20 63 2 3.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.173694391 1.173694391 1 0.206538976 0.206538976 1 NA NA 1 NA NA 1 5 NA 1 1 2.74E-16 1 0.03993132 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 9551509 G A LHFPL4 CCDS33691.1 r.? - - intronic 34 0 0 63 10 15.9 58 14 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.933087041 0.933087041 1 1.555496659 1.555496659 1 NA NA 1 NA NA 1 5 NA 1 1 9.81E-13 1 5.04E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 9634208 G A - - - - - - 26 0 0 57 6 10.5 42 1 2.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.616189555 0.616189555 1 0.154904232 0.154904232 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000456 1 0.189842622 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 9670018 G C - - - - - - 36 0 0 87 30 34.5 46 13 28.3 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.024622824 1.012311412 2 1.826579065 0.913289532 2 NA NA 1 0 0 1 5 NA 1 1 1.39E-46 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 9720854 C A MTMR14 CCDS43043.1 r.? - - intronic 32 0 0 61 28 45.9 62 23 37.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.693628627 1.346814313 2 2.394561247 1.197280624 2 NA NA 1 NA NA 1 5 NA 1 1 6.09E-48 1 5.9E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 9893737 T A TTLL3 ENST00000455274 r.? - - intronic 36 0 0 74 15 20.3 54 9 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.191299807 1.191299807 1 1.077875278 1.077875278 1 NA NA 1 NA NA 1 5 NA 1 1 4.22E-20 1 8.48E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 10203607 A G IRAK2 CCDS33697.1 r.? - - upstream 32 0 0 52 12 23.1 27 1 3.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.355617021 1.355617021 1 0.23881069 0.23881069 1 NA NA 1 NA NA 1 5 NA 1 1 4.19E-17 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 10583933 G A ATP2B2 CCDS2601.1 r.? - - intronic 38 0 0 62 9 14.5 48 6 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.850928433 0.850928433 1 0.806792873 0.806792873 1 NA NA 1 NA NA 1 5 NA 1 1 3.12E-11 1 0.00000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 10586516 C T ATP2B2 CCDS2601.1 r.? - - intronic 31 0 0 62 13 21 51 17 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.23237911 1.23237911 1 2.149296214 1.074648107 2 NA NA 1 NA NA 1 5 NA 1 1 8.08E-18 1 9.59E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 10640393 G T ATP2B2 CCDS2601.1 r.? - - intronic 38 0 0 52 6 11.5 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.674874275 0.674874275 1 1.019786192 1.019786192 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000261 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 10755896 C G - - - - - - 39 0 0 68 14 20.6 68 10 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.208905222 1.208905222 1 0.948788419 0.948788419 1 NA NA 1 NA NA 1 5 NA 1 1 5.84E-19 1 2.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 10776603 A G - - - - - - 35 0 0 55 22 40 55 17 30.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.347388781 1.173694391 2 1.994391982 0.997195991 2 NA NA 1 NA NA 1 5 NA 1 1 2.65E-36 1 4.35E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 10801233 T A - - - - - - 37 0 0 51 11 21.6 62 6 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.267589942 1.267589942 1 0.626071269 0.626071269 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-15 1 0.000000756 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 10834499 G T - - - - - - 14 0 0 26 8 30.8 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.807489362 1.807489362 1 2.278383073 1.139191537 2 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 10985100 C A SLC6A11 CCDS2602.1 r.? - - downstream 25 0 0 54 5 9.3 50 11 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.545767892 0.545767892 1 1.419955457 1.419955457 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000806 1 1.52E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 11307745 C T HRH1 CCDS2604.1 r.? - - downstream 30 0 0 59 8 13.6 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.798112186 0.798112186 1 1.026240535 1.026240535 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-10 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 11803828 G A - - - - - - 32 0 0 49 11 22.4 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.314537718 1.314537718 1 1.032694878 1.032694878 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 11986659 T A - - - - - - 39 0 0 59 18 30.5 43 19 44.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.789883946 0.894941973 2 2.852819599 1.4264098 2 NA NA 1 NA NA 1 5 NA 1 1 2.03E-27 1 1.36E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 12004000 A C - - - - - - 36 0 0 57 13 22.8 71 15 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.338011605 1.338011605 1 1.36186637 1.36186637 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 2.15E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 12131101 G A SYN2 ENST00000341648 r.? - - intronic 39 0 0 78 11 14.1 40 4 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.827454545 0.827454545 1 0.645434298 0.645434298 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 12396321 C T PPARG CCDS2610.2 r.? - - intronic 32 0 0 45 18 40 61 13 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.347388781 1.173694391 2 1.374775056 1.374775056 1 NA NA 1 NA NA 1 5 NA 1 1 5.76E-30 1 6.41E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 12508977 G T ENSG00000224182 ENST00000445303 r.? - - intronic 25 0 0 59 9 15.3 53 8 15.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.897876209 0.897876209 1 0.974605791 0.974605791 1 NA NA 1 NA NA 1 5 NA 1 1 1.96E-11 1 2.83E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 12937469 A T IQSEC1 CCDS33703.1 r.? - - downstream 25 0 0 72 12 16.7 41 2 4.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.980034816 0.980034816 1 0.316262806 0.316262806 1 NA NA 1 NA NA 1 5 NA 1 1 2.84E-15 1 0.018015855 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 13053121 C G IQSEC1 ENST00000435445 r.? - - intronic 31 0 0 64 19 29.7 48 15 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.74293617 0.871468085 2 2.013755011 1.006877506 2 NA NA 1 NA NA 1 5 NA 1 1 1.34E-28 1 2.86E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 13239258 A G - - - - - - 26 0 0 49 18 36.7 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.153729207 1.076864603 2 2.207385301 1.10369265 2 NA NA 1 NA NA 1 5 NA 1 1 3.8E-29 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 13776136 T C - - - - - - 24 0 0 56 18 32.1 66 20 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.883779497 0.941889749 2 1.955665924 0.977832962 2 NA NA 1 NA NA 1 5 NA 1 1 6.76E-28 1 3.11E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 13781775 A T - - - - - - 23 0 0 76 16 21.1 60 7 11.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.238247582 1.238247582 1 0.755158129 0.755158129 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-21 1 2.39E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 13784560 G A - - - - - - 30 1 3.3 50 13 26 61 15 24.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.525802708 1.525802708 1 1.587768374 0.793884187 2 NA NA 1 NA NA 1 5 NA 0.139615808 1 3.65E-19 1 1.73E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 13846857 A C - - - - - - 43 0 0 59 9 15.3 51 4 7.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.897876209 0.897876209 1 0.503438753 0.503438753 1 NA NA 1 NA NA 1 5 NA 1 1 1.96E-11 1 0.000129466 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 14244206 G T LSM3 ENST00000306024 r.? - - downstream 30 0 0 60 15 25 57 8 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.467117988 1.467117988 1 0.903608018 0.903608018 1 NA NA 1 NA NA 1 5 NA 1 1 1.31E-21 1 5.19E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 14541346 C T ENSG00000249323 ENST00000507975 r.? - - intronic 31 0 0 59 7 11.9 47 6 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.698348162 0.698348162 1 0.826155902 0.826155902 1 NA NA 1 NA NA 1 5 NA 1 1 2.12E-08 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 14586791 G T ENSG00000249323 ENST00000507975 r.? - - upstream 35 0 0 57 19 33.3 54 18 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.954201161 0.97710058 2 2.149296214 1.074648107 2 NA NA 1 NA NA 1 5 NA 1 1 1.01E-29 1 3.12E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 14637707 A T - - - - - - 30 0 0 62 12 19.4 54 8 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.138483559 1.138483559 1 0.955242762 0.955242762 1 NA NA 1 NA NA 1 5 NA 1 1 4.19E-16 1 3.31E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 14931732 C T FGD5 CCDS46767.1 r.? - - intronic 34 0 0 68 10 14.7 57 7 12.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.862665377 0.862665377 1 0.793884187 0.793884187 1 NA NA 1 NA NA 1 5 NA 1 1 2.18E-12 1 1.66E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 14947815 A C FGD5 CCDS46767.1 r.? - - intronic 22 0 0 60 20 33.3 49 16 32.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.954201161 0.97710058 2 2.110570156 1.055285078 2 NA NA 1 NA NA 1 5 NA 1 1 3.3E-31 1 4.37E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 14966315 A C FGD5 CCDS46767.1 r.? - - intronic 31 0 0 71 15 21.1 57 14 24.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.238247582 1.238247582 1 1.587768374 0.793884187 2 NA NA 1 NA NA 1 5 NA 1 1 2.15E-20 1 3.84E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 15005244 C T NR2C2 CCDS2621.1 r.? - - intronic 40 0 0 61 6 9.8 56 9 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.575110251 0.575110251 1 1.03914922 1.03914922 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000685 1 1.2E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 15410698 C A - - - - - - 22 0 0 45 7 15.6 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 0.759481625 0.759481625 1 1.551566381 1.551566381 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000003 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 15423678 T G METTL6 ENST00000458728 r.? - - downstream 22 0 0 35 10 28.6 46 12 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 1.392382979 1.392382979 1 1.472577547 1.472577547 1 NA NA 0 NA NA 1 5 NA 1 1 1.6E-15 1 8.12E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 15680043 C G BTD CCDS2628.1 r.? - - intronic 30 0 0 51 6 11.8 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 0.574479691 0.574479691 1 1.568492559 1.568492559 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000232 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 15852837 A G ANKRD28 CCDS46769.1 r.? - - intronic 24 0 0 52 10 19.2 54 9 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 0.934746615 0.934746615 1 0.942223948 0.942223948 1 NA NA 0 NA NA 1 5 NA 1 1 1.28E-13 1 8.48E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 15857572 G A ANKRD28 CCDS46769.1 r.? - - intronic 44 0 0 49 14 28.6 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 1.392382979 1.392382979 1 1.675691691 0.837845846 2 NA NA 0 NA NA 1 5 NA 1 1 3.5E-21 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 15920790 T C - - - - - - 23 0 0 53 13 24.5 47 6 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 1.192775629 1.192775629 1 0.722183624 0.722183624 1 NA NA 1 NA NA 0 5 NA 1 1 8.53E-19 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 16577212 G A - - - - - - 27 0 0 45 6 13.3 48 9 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 0.64750677 0.64750677 1 1.060707198 1.060707198 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000108 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 16658670 G A DAZL ENST00000454457 r.? - - intronic 39 0 0 53 16 30.2 52 9 17.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 1.47027853 1.47027853 1 0.976076305 0.976076305 1 NA NA 0 NA NA 0 5 NA 1 1 1.9E-24 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 16851873 C A - - - - - - 37 0 0 47 20 42.6 38 20 52.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 2.073969052 1.036984526 2 2.967723332 1.356539214 2.187716582 NA NA 0 NA NA 0 5 NA 1 1 8.18E-34 1 2.94E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 17247593 C T TBC1D5 CCDS33714.1 r.? - - intronic 29 0 0 52 11 21.2 54 11 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 1.032116054 1.032116054 1 1.150980151 1.150980151 1 NA NA 0 NA NA 0 5 NA 1 1 2.44E-15 1 3.84E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 17258174 C A TBC1D5 CCDS33714.1 r.? - - intronic 34 0 0 66 18 27.3 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 1.329092843 1.329092843 1 1.252537224 1.252537224 1 NA NA 0 NA NA 0 5 NA 1 1 2.08E-26 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 17296090 A C TBC1D5 CCDS33714.1 r.? - - intronic 35 0 0 54 9 16.7 33 3 9.1 1 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 0.813034816 0.813034816 1 0.513427421 0.513427421 1 NA NA 0 NA NA 0 5 NA 1 1 8.48E-12 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 17302857 C T TBC1D5 CCDS33714.1 r.? - - intronic 31 0 0 42 9 21.4 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 1.041852998 1.041852998 1 1.410514891 1.410514891 1 NA NA 0 NA NA 0 5 NA 1 1 7.51E-13 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 17437095 C G TBC1D5 CCDS33714.1 r.? - - intronic 30 0 0 61 12 19.7 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 0.959088975 0.959088975 1 0.846308935 0.846308935 1 NA NA 0 NA NA 0 5 NA 1 1 3.39E-16 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 17479898 C A TBC1D5 CCDS33714.1 r.? - - intronic 30 0 0 39 7 17.9 54 13 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 0.87145648 0.87145648 1 1.359736355 1.359736355 1 NA NA 0 NA NA 0 5 NA 1 1 1.04E-09 1 1.12E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 18025851 C A AC139618.1 ENST00000448265 r.? - - intronic 38 0 0 56 12 21.4 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 1.041852998 1.041852998 1 0.897087471 0.897087471 1 NA NA 0 NA NA 0 5 NA 1 1 1.11E-16 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 18397381 T C SATB1 CCDS2631.1 r.? - - intronic 46 0 0 60 6 10 49 9 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 0.486847195 0.486847195 1 1.03813896 1.03813896 1 NA NA 0 NA NA 0 5 NA 1 1 0.000000621 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 18774981 G A - - - - - - 37 0 0 60 13 21.7 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 1.056458414 1.056458414 1 0.902729531 0.902729531 1 NA NA 0 NA NA 0 5 NA 1 1 5.07E-18 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 18908620 C A - - - - - - 35 0 0 61 14 23 54 7 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 1.119748549 1.119748549 1 0.733467744 0.733467744 1 NA NA 0 NA NA 0 5 NA 1 1 1.1E-19 1 1.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 18928011 C A - - - - - - 44 0 0 44 9 20.5 52 8 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 0.99803675 0.99803675 1 0.868877173 0.868877173 1 NA NA 0 NA NA 0 5 NA 1 1 1.18E-12 1 2.42E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 18963816 A T - - - - - - 49 0 0 59 12 20.3 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.187716582 2 2 1 1 1 0.812283418 NA 3 NA 1 NA 0.187716582 0.988299807 0.988299807 1 1.376662534 1.376662534 1 NA NA 0 NA NA 0 5 NA 1 1 2.2E-16 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 19044896 G T - - - - - - 34 1 2.9 31 12 38.7 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.497098646 1.497098646 1 0.726057906 0.726057906 1 NA NA 1 NA NA 1 5 NA 0.156694864 1 3.16E-20 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 19111179 A G - - - - - - 37 0 0 39 12 30.8 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 19118610 T C - - - - - - 32 0 0 41 10 24.4 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.438752784 1.438752784 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 19994088 T G RAB5A CCDS2633.1 r.? - - intronic 34 0 0 43 7 16.3 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.630560928 0.630560928 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 2.15E-09 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 20091286 C A KAT2B CCDS2634.1 r.? - - intronic 37 0 0 42 12 28.6 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.538975501 0.538975501 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 20686092 T G - - - - - - 38 0 0 19 7 36.8 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.423597679 1.423597679 1 1.621380846 1.621380846 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-12 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 20772559 T G - - - - - - 37 0 0 35 9 25.7 49 15 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 4.1E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 21207601 T C - - - - - - 35 0 0 42 5 11.9 67 14 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.460348162 0.460348162 1 0.930957684 0.930957684 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000228 1 4.66E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 21219576 G A - - - - - - 43 0 0 39 9 23.1 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 21367017 A C - - - - - - 44 0 0 35 9 25.7 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 21379879 T C - - - - - - 26 0 0 43 13 30.2 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.16827853 1.16827853 1 1.287305122 1.287305122 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-20 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 21776807 A G ZNF385D CCDS2636.1 r.? - - intronic 31 0 0 37 17 45.9 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.775628627 1.775628627 1 1.53674833 1.53674833 1 NA NA 1 NA NA 1 5 NA 1 1 1.1E-29 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 21848845 A G - - - - - - 35 0 0 40 9 22.5 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 21879787 G T - - - - - - 34 0 0 34 12 35.3 45 4 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.3655706 1.3655706 1 0.396436526 0.396436526 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 22285322 G A - - - - - - 20 0 0 40 11 27.5 49 13 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 2.71E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 22960211 C T - - - - - - 36 0 0 37 10 27 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 24484900 G A THRB CCDS2641.1 r.? - - intronic 35 0 0 34 8 23.5 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 1.064587973 1.064587973 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 24670030 G A - - - - - - 43 0 0 34 7 20.6 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 25348394 G T RARB ENST00000404969 r.? - - intronic 44 0 0 48 7 14.6 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.564796905 0.564796905 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 4.81E-09 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 25912720 G C ENSG00000230891 ENST00000451284 r.? - - intronic 38 0 0 53 11 20.8 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 3.07E-15 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 25962106 C G - - - - - - 28 0 0 50 11 22 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 25969305 G A - - - - - - 40 0 0 36 14 38.9 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.50483559 1.50483559 1 0.516703786 0.516703786 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 26028890 A G - - - - - - 31 0 0 36 10 27.8 43 8 18.6 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 0.828507795 0.828507795 1 NA NA 1 0 0 1 5 NA 1 1 2.21E-15 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 26353125 G A - - - - - - 35 0 0 49 20 40.8 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.578336557 1.578336557 1 0.792873051 0.792873051 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-33 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 28633951 C A - - - - - - 49 0 0 28 9 32.1 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.920779497 0.920779497 1 1.357556793 1.357556793 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 29025123 T A - - - - - - 31 0 0 29 10 34.5 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 0.445610245 0.445610245 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 29026073 A T - - - - - - 22 0 0 35 10 28.6 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.278106904 1.278106904 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 29032347 A T - - - - - - 23 0 0 32 12 37.5 31 14 45.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.561363029 1.561363029 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 1.49E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 29752927 C A RBMS3 CCDS33725.1 r.? - - intronic 28 0 0 34 12 35.3 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.0125706 1.0125706 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 30988728 T A - - - - - - 27 0 0 33 6 18.2 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 31484835 A T - - - - - - 37 0 0 34 13 38.2 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.095756286 1.095756286 1 0.887766147 0.887766147 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 31702412 G C OSBPL10 CCDS2651.1 r.3570c>g c.? p.? 3'UTR variant 54 0 0 39 10 25.6 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.73432882 0.73432882 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 31719800 A C OSBPL10 CCDS2651.1 r.? - - intronic 30 0 0 29 8 27.6 20 2 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 0.345434298 0.345434298 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 0.004473894 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 31719946 C G OSBPL10 CCDS2651.1 r.? - - intronic 24 0 0 29 11 37.9 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 0.718503341 0.718503341 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 32152055 A C GPD1L CCDS33729.1 r.? - - intronic 36 0 0 32 15 46.9 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.345313346 1.345313346 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 1.59E-26 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 32647450 G T - - - - - - 23 0 0 22 6 27.3 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-09 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 32795305 A G CNOT10 CCDS2655.1 r.? - - intronic 35 0 0 33 12 36.4 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 1.202111359 1.202111359 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 33139831 G A TMPPE CCDS33732.1 r.? - - upstream 26 1 3.8 37 13 35.1 29 11 37.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.006833656 1.006833656 1 1.309195991 1.309195991 1 NA NA 1 NA NA 1 5 NA 0.122190858 1 3.89E-21 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 33623520 T C CLASP2 ENST00000307312 r.? - - intronic 39 1 2.6 25 6 24 24 13 54.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.688433269 0.688433269 1 1.872253898 1.872253898 1 NA NA 1 NA NA 1 5 NA 0.177567718 1 2.55E-09 1 2.9E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 34484603 T A - - - - - - 50 0 0 27 10 37 19 4 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 0.72886637 0.72886637 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 34503831 G A - - - - - - 34 0 0 31 6 19.4 38 7 18.4 0 0 NA 0 0 NA 2 2 100 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.556483559 0.556483559 1 0.635599109 0.635599109 1 NA NA 1 3.454342984 3.454342984 1 5 NA 1 1 1.03E-08 1 8.61E-10 0.000025 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 34883922 A G - - - - - - 47 0 0 30 11 36.7 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 34957182 C A - - - - - - 30 0 0 36 15 41.7 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-25 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 35301317 G T - - - - - - 30 0 0 41 12 29.3 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.840462282 0.840462282 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 35524988 T C - - - - - - 30 0 0 24 7 29.2 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 35781781 C G ENSG00000172995 CCDS2661.1 r.? - - intronic 35 0 0 36 11 30.6 37 15 40.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.877752418 0.877752418 1 1.399008909 1.399008909 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 2.58E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 35782173 A T ENSG00000172995 CCDS2661.1 r.? - - intronic 36 0 0 27 11 40.7 35 13 37.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 1.281561247 1.281561247 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 1.63E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 35895487 T G - - - - - - 26 0 0 19 8 42.1 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.207626692 1.207626692 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.81E-14 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 35911907 A C - - - - - - 35 0 0 37 17 45.9 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.316628627 1.316628627 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 1.1E-29 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 36317343 T G - - - - - - 39 0 0 33 7 21.2 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 0.538975501 0.538975501 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 36727520 A T - - - - - - 40 0 0 38 13 34.2 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 36798471 G A - - - - - - 31 0 0 39 13 33.3 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 37507344 C T ITGA9 CCDS2669.1 r.? - - intronic 32 0 0 43 11 25.6 26 3 11.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.512249443 0.512249443 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 37980794 G A CTDSPL CCDS33735.1 r.? - - intronic 29 0 0 38 11 28.9 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.064587973 1.064587973 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 38339633 C A SLC22A14 CCDS2677.1 r.? - - intronic 36 0 0 48 17 35.4 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.369439072 1.369439072 1 1.011135857 1.011135857 1 NA NA 1 NA NA 1 5 NA 1 1 2.8E-27 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 38384775 G A XYLB CCDS2678.1 r.? - - upstream 25 0 0 42 6 14.3 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 7.02E-08 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 38384937 G T XYLB CCDS2678.1 r.? - - upstream 36 0 0 38 5 13.2 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.510638298 0.510638298 1 0.930957684 0.930957684 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000137 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 38600445 C G SCN5A CCDS46796.1 r.? - - intronic 32 0 0 40 12 30 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 38781106 T C SCN10A CCDS33736.1 r.2180a>g c.2180A>G p.K727R missense 38 0 0 38 15 39.5 39 11 28.2 258 0 0 152 34 22.4 18 8 44.4 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.528046422 1.528046422 1 1.256124722 1.256124722 1 0.866537718 0.866537718 1 1.977728285 1.977728285 1 5 4 1 1 4.24E-25 3.11E-45 7.2E-17 1.63E-14 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 39055763 C A - - - - - - 31 0 0 37 13 35.1 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.357833656 1.357833656 1 0.708240535 0.708240535 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 39081386 A G - - - - - - 23 0 0 39 6 15.4 23 1 4.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 0.191536748 0.191536748 1 NA NA 1 NA NA 1 5 NA 1 1 4.43E-08 1 0.108890944 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 39118851 G A WDR48 CCDS33738.1 r.? - - intronic 34 0 0 39 9 23.1 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 39176802 G A TTC21A CCDS43068.1 r.? - - intronic 33 0 0 30 11 36.7 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.419729207 1.419729207 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 39253276 C G - - - - - - 35 0 0 58 16 27.6 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 1E-23 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 39275256 G T - - - - - - 25 0 0 39 16 41 59 14 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.586073501 1.586073501 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 5.16E-27 1 6.58E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 39477914 C A - - - - - - 29 0 0 35 8 22.9 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 39504075 G C MOBP ENST00000354668 r.? - - upstream 29 0 0 48 10 20.8 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 1.541202673 1.541202673 1 NA NA 1 NA NA 1 5 NA 1 1 5.37E-14 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 39527097 A G MOBP CCDS2687.1 r.? - - intronic 31 0 0 49 11 22.4 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.866537718 0.866537718 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 39606472 C T - - - - - - 42 0 0 36 10 27.8 51 15 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 8.22E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 39610341 T C - - - - - - 26 0 0 45 11 24.4 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-16 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 40031203 G A MYRIP CCDS2689.1 r.? - - intronic 31 0 0 33 7 21.2 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 40072541 C T MYRIP CCDS2689.1 r.? - - intronic 30 0 0 42 10 23.8 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 40147377 C G MYRIP CCDS2689.1 r.? - - intronic 31 0 0 37 9 24.3 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 40184906 C A MYRIP CCDS2689.1 r.? - - intronic 38 0 0 41 10 24.4 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 40266765 T C MYRIP CCDS2689.1 r.? - - intronic 42 0 0 41 9 22 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 40319038 T A - - - - - - 44 0 0 41 10 24.4 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 40324948 G C - - - - - - 30 0 0 42 12 28.6 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 40740519 G T - - - - - - 47 0 0 41 10 24.4 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 40908524 G C - - - - - - 33 0 0 24 6 25 47 11 23.4 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.042316258 1.042316258 1 NA NA 1 NA NA 1 5 NA 1 1 1.95E-09 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 41116530 T A - - - - - - 32 0 0 45 10 22.2 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 41673477 T G ULK4 CCDS43071.1 r.? - - intronic 38 0 0 43 12 27.9 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 42614126 T G SEC22C CCDS2699.1 r.? - - intronic 22 0 0 40 11 27.5 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 42954792 C T ZNF662 CCDS2708.1 r.782c>u c.251C>T p.P84L missense 30 0 0 49 14 28.6 34 6 17.6 194 1 0.5 115 32 27.8 47 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.783964365 0.783964365 1 1.075435203 1.075435203 1 0 0 1 5 5 1 0.621838193 3.5E-21 4.38E-46 1.86E-08 1 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9776b 3 43075030 C A FAM198A CCDS46808.1 r.1651c>a c.1275C>A p.F425L missense 25 0 0 35 7 20 31 9 29 123 0 0 150 36 24 2 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.291759465 1.291759465 1 0.928433269 0.928433269 1 0 0 1 5 5 1 1 4.65E-10 5.04E-49 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 43175315 A T - - - - - - 32 0 0 51 11 21.6 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.779510022 0.779510022 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-15 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 43648484 T G ANO10 CCDS2710.2 r.? - - intronic 36 0 0 39 11 28.2 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 0.930957684 0.930957684 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 43751966 T G ABHD5 CCDS2711.1 r.? - - intronic 32 0 0 47 9 19.1 46 14 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.738878143 0.738878143 1 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-12 1 1.26E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 43760990 A T ABHD5 CCDS2711.1 r.? - - downstream 32 0 0 42 12 28.6 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 43804358 C G - - - - - - 34 0 0 39 8 20.5 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 44988671 A T ZDHHC3 CCDS46810.1 r.? - - intronic 29 0 0 26 7 26.9 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.040618956 1.040618956 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 45156058 T A CDCP1 CCDS2727.1 r.? - - intronic 25 0 0 43 10 23.3 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.801781737 0.801781737 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 45169460 C T CDCP1 CCDS2727.1 r.? - - intronic 34 0 0 34 10 29.4 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 45654684 G A LIMD1 CCDS2729.1 r.? - - intronic 29 0 0 31 15 48.4 29 12 41.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.113904472 1 1 0 0 1 0.886095528 NA 2 NA 0 NA 0.113904472 1.388340426 1.388340426 1 1.477254447 1.477254447 1 NA NA 1 NA NA 0 5 NA 1 1 8.51E-27 1 1.17E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 46648342 G C - - - - - - 32 0 0 41 14 34.1 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.113904472 1 1 0 0 1 0.886095528 NA 2 NA 0 NA 0.113904472 0.978148936 0.978148936 1 0.817128668 0.817128668 1 NA NA 1 NA NA 0 5 NA 1 1 1.9E-22 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 46983916 T A CCDC12 CCDS2748.1 r.? - - intronic 44 0 0 36 18 50 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.113904472 1 1 0 0 1 0.886095528 NA 2 NA 0 NA 0.113904472 1.434235977 1.434235977 1 1.40232125 1.40232125 1 NA NA 0 NA NA 0 5 NA 1 1 3.18E-32 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 47126255 C G SETD2 CCDS2749.2 r.? - - intronic 18 0 0 22 14 63.6 39 16 41 0 0 NA 0 0 NA 1 1 100 TRUE FALSE 1 1.113904472 1 1 0 0 1 0.886095528 NA 2 NA 0 NA 0.113904472 1.824348162 1.824348162 1 1.462981457 1.462981457 1 NA NA 0 3.568247456 3.568247456 1 5 NA 1 1 1.88E-27 1 5.16E-27 0.005 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 48696458 C T CELSR3 CCDS2775.1 r.3891g>a c.3610G>A p.D1204N missense 32 0 0 50 26 52 30 13 43.3 210 1 0.5 221 130 58.8 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.011605416 1.005802708 2 1.928730512 0.964365256 2 2.274661509 1.137330754 2 NA NA 1 5 NA 1 0.650982698 1.61E-46 2.7E-236 1.35E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 48810113 G A PRKAR2A CCDS2778.1 r.? - - intronic 37 0 0 46 23 50 32 17 53.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.934235977 0.967117988 2 2.365256125 1.182628062 2 NA NA 1 NA NA 1 5 NA 1 1 8.79E-41 1 4.02E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 49637050 G A BSN CCDS2800.1 r.? - - intronic 39 0 0 35 13 37.1 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.435203095 1.435203095 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 50100792 C G RBM6 CCDS2809.1 r.? - - intronic 42 0 0 36 19 52.8 29 11 37.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.042553191 1.021276596 2 1.688195991 0.844097996 2 NA NA 1 NA NA 1 5 NA 1 1 1.51E-34 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 50124346 T A RBM5 CCDS2810.1 r.? - - upstream 26 0 0 36 21 58.3 44 22 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.255319149 1.127659574 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 2.47E-39 1 4.51E-39 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 50152816 T G RBM5 CCDS2810.1 r.? - - intronic 30 0 0 37 17 45.9 28 15 53.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.775628627 0.887814313 2 2.38752784 1.19376392 2 NA NA 1 NA NA 1 5 NA 1 1 1.1E-29 1 1.07E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 50371680 C T RASSF1 CCDS2822.1 r.? - - intronic 35 0 0 60 7 11.7 29 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.452611219 0.452611219 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.39E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 50446923 A C CACNA2D2 CCDS33763.1 r.? - - intronic 48 0 0 43 23 53.5 36 18 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.069632495 1.034816248 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 1.04E-41 1 3.18E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 51168607 A T DOCK3 CCDS46835.1 r.? - - intronic 32 0 0 40 13 32.5 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 51257307 G T DOCK3 CCDS46835.1 r.? - - intronic 45 0 0 29 18 62.1 17 6 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.402321083 1.201160542 2 1.572383073 1.572383073 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-34 1 1.84E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 53258321 G T TKT CCDS2871.1 r.? - - downstream 32 0 0 31 12 38.7 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.110098646 1.110098646 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 54611593 C G CACNA2D3 ENST00000474759 r.? - - intronic 26 0 0 27 7 25.9 22 10 45.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.742934236 0.742934236 1 1.571726058 1.571726058 1 NA NA 1 NA NA 1 5 NA 1 1 6.36E-11 1 5.98E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 55530399 T G - - - - - - 33 0 0 32 10 31.2 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 56749263 A T - - - - - - 32 0 0 37 18 48.6 24 9 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.394077369 1.394077369 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 6.16E-32 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 57371140 G T DNAH12 CCDS46857.1 r.? - - intronic 34 0 0 43 15 34.9 20 6 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.001096712 1.001096712 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 4.05E-24 1 5.7E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 57507747 T C DNAH12 CCDS46857.1 r.? - - intronic 28 0 0 22 7 31.8 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 1.001759465 1.001759465 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 58658372 T A - - - - - - 50 0 0 26 13 50 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-23 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 59193034 G C - - - - - - 44 0 0 41 14 34.1 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-22 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 59305641 C T - - - - - - 28 0 0 39 8 20.5 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 59311835 A G - - - - - - 33 0 0 45 14 31.1 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.203094778 1.203094778 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 59408489 T G - - - - - - 49 0 0 43 10 23.3 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.930957684 0.930957684 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 59503850 A G - - - - - - 38 0 0 44 12 27.3 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.726057906 0.726057906 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 59515246 G A - - - - - - 34 0 0 29 10 34.5 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.334622824 1.334622824 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 59728709 C T - - - - - - 28 0 0 30 6 20 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 8.37E-09 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 60505121 G T FHIT CCDS2894.1 r.? - - intronic 34 0 0 47 12 25.5 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 1.305122494 1.305122494 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 60610119 C G FHIT CCDS2894.1 r.? - - intronic 34 0 0 42 12 28.6 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 60943260 G C FHIT CCDS2894.1 r.? - - intronic 28 0 0 41 7 17.1 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 60958413 T A FHIT CCDS2894.1 r.? - - intronic 38 0 0 44 7 15.9 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.615087041 0.615087041 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 62272586 C G PTPRG CCDS2895.1 r.? - - intronic 40 0 0 29 7 24.1 39 13 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.932301741 0.932301741 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 8.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 62409562 A C CADPS CCDS46858.1 r.? - - intronic 42 0 0 38 12 31.6 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 1.407572383 1.407572383 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 62445261 C A CADPS CCDS46858.1 r.? - - intronic 32 0 0 50 10 20 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 8.36E-14 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 62524827 T C CADPS CCDS46858.1 r.? - - intronic 45 0 0 36 14 38.9 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.50483559 1.50483559 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 62644083 G A CADPS CCDS46858.1 r.? - - intronic 31 0 0 45 11 24.4 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-16 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 62746521 A C CADPS CCDS46858.1 r.? - - intronic 32 0 0 36 7 19.4 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 62767081 C A CADPS CCDS46858.1 r.? - - intronic 31 0 0 35 6 17.1 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 62886448 T C - - - - - - 25 0 0 29 6 20.7 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.800773694 0.800773694 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 62957579 A T - - - - - - 38 0 0 44 7 15.9 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.615087041 0.615087041 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 62968059 T C - - - - - - 35 0 0 36 7 19.4 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.650334076 0.650334076 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 63037020 T G - - - - - - 43 0 0 37 12 32.4 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 63447077 T A SYNPR CCDS46859.1 r.? - - intronic 30 0 0 27 4 14.8 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.572533849 0.572533849 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 0.00001 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 63776044 T C - - - - - - 35 0 0 40 11 27.5 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 64284659 C G - - - - - - 35 0 0 43 16 37.2 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.439071567 1.439071567 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 3.56E-26 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 64616207 C G ADAMTS9 CCDS2903.1 r.? - - intronic 35 0 0 35 11 31.4 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 64983964 A T - - - - - - 30 0 0 46 10 21.7 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 3 1 2 1 1 1 1 NA NA NA NA NA NA 0.839458414 0.839458414 1 0.910875278 0.910875278 1 NA NA 0 NA NA 1 5 NA 1 1 3.38E-14 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 65061336 A G - - - - - - 44 0 0 39 9 23.1 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 3 1 2 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.719973274 0.719973274 1 NA NA 0 NA NA 1 5 NA 1 1 3.62E-13 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 65436869 C A MAGI1 CCDS33781.1 r.? - - intronic 45 0 0 53 20 37.7 45 14 31.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.118903808 3 2 2 1 1 0.881096192 1 2 NA 2 NA 0.118903808 NA 1.880240662 0.999545196 1.881096192 1.696300668 0.848150334 2 NA NA 0 NA NA 0 5 NA 1 1 1.65E-32 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 65547320 T C MAGI1 CCDS33781.1 r.? - - intronic 47 0 0 45 15 33.3 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.118903808 3 2 2 1 1 0.881096192 1 2 NA 2 NA 0.118903808 NA 1.660796129 0.882887401 1.881096192 1.538124722 1.538124722 1 NA NA 0 NA NA 0 5 NA 1 1 9.14E-24 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 65621502 G A MAGI1 CCDS33781.1 r.? - - intronic 28 0 0 39 9 23.1 47 5 10.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.118903808 3 2 2 1 1 0.881096192 1 2 NA 2 NA 0.118903808 NA 1.152083801 1.152083801 1 0.578160356 0.578160356 1 NA NA 0 NA NA 1 5 NA 1 1 3.62E-13 1 0.00000402 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 66131820 G C SLC25A26 ENST00000354883 r.? - - intronic 38 0 0 45 14 31.1 48 12 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.118903808 3 2 2 1 1 0.881096192 1 2 NA 2 NA 0.118903808 NA 1.551073862 0.824558504 1.881096192 1.363585746 1.363585746 1 NA NA 0 NA NA 0 5 NA 1 1 8.81E-22 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 66632937 A T - - - - - - 34 0 0 44 15 34.1 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.118903808 3 2 2 1 1 0.881096192 1 2 NA 2 NA 0.118903808 NA 1.700695135 0.904097909 1.881096192 1.472672606 1.472672606 1 NA NA 0 NA NA 0 5 NA 1 1 6.12E-24 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 67180170 T A - - - - - - 35 0 0 40 13 32.5 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 67289044 C A - - - - - - 36 0 0 30 8 26.7 49 15 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 4.1E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 67348549 T C - - - - - - 28 0 0 34 15 44.1 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.705996132 1.705996132 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-26 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 67408703 C T SUCLG2 ENST00000493112 r.? - - downstream 39 0 0 42 12 28.6 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 67414766 C A SUCLG2 ENST00000493112 r.? - - intronic 25 0 0 39 6 15.4 29 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 4.43E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 67497807 T A SUCLG2 CCDS43104.1 r.? - - intronic 36 0 0 33 11 33.3 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 68212844 G T FAM19A1 ENST00000478136 r.? - - intronic 37 0 0 38 10 26.3 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 68586545 C T FAM19A1 ENST00000478136 r.? - - intronic 32 0 0 47 15 31.9 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.234042553 1.234042553 1 0.801781737 0.801781737 1 NA NA 1 NA NA 1 5 NA 1 1 1.97E-23 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 68682561 G T - - - - - - 28 0 0 52 13 25 51 7 13.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.610244989 0.610244989 1 NA NA 1 NA NA 1 5 NA 1 1 6.47E-19 1 7.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 68767735 A G - - - - - - 29 0 0 36 6 16.7 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.634743875 1.634743875 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 68801269 C T FAM19A4 CCDS2907.1 r.? - - intronic 21 0 0 39 10 25.6 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 68820590 T C FAM19A4 CCDS2907.1 r.? - - intronic 31 0 0 39 10 25.6 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 68838189 C T FAM19A4 CCDS2907.1 r.? - - intronic 25 0 0 40 12 30 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 68959194 A G FAM19A4 CCDS2907.1 r.? - - intronic 32 0 0 36 7 19.4 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 69290230 G T FRMD4B CCDS46863.1 r.? - - intronic 27 0 0 29 13 44.8 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.733075435 1.733075435 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 7.69E-23 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 69585430 C A FRMD4B ENST00000459638 r.? - - intronic 28 0 0 30 5 16.7 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 70285565 A G - - - - - - 33 0 0 44 6 13.6 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.526112186 0.526112186 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 9.37E-08 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 70465364 A G - - - - - - 34 0 0 32 7 21.9 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.847195358 0.847195358 1 1.523385301 1.523385301 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 70472773 G T - - - - - - 44 0 0 40 8 20 33 8 24.2 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.077951002 1.077951002 1 NA NA 1 0 0 1 5 NA 1 1 2.61E-11 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 70523804 C A - - - - - - 34 0 0 44 13 29.5 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 70565061 A C - - - - - - 37 0 0 33 4 12.1 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.468085106 0.468085106 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000228 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 70640663 G A - - - - - - 49 0 0 41 6 14.6 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.564796905 0.564796905 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 6.05E-08 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 70723955 C G - - - - - - 31 0 0 47 19 40.4 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.562862669 1.562862669 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 1.16E-31 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 71280973 G A FOXP1 CCDS2914.1 r.? - - intronic 36 0 0 42 15 35.7 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.381044487 1.381044487 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 72465544 C G RYBP ENST00000477973 r.? - - intronic 27 0 0 43 11 25.6 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 72740665 G A AC103560.1 ENST00000509224 r.? - - intronic 28 0 0 46 6 13 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.502901354 0.502901354 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 72816641 A G SHQ1 CCDS33788.1 r.? - - intronic 30 0 0 44 14 31.8 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.230174081 1.230174081 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 6.1E-22 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 73467135 C G PDZRN3 CCDS33789.1 r.? - - intronic 49 0 0 50 6 12 36 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.464216634 0.464216634 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000206 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 73732900 C A - - - - - - 39 0 0 40 10 25 41 14 34.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.518930958 1.518930958 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 1.9E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 73880761 C A - - - - - - 34 0 0 47 13 27.7 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.071566731 1.071566731 1 0.930957684 0.930957684 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-19 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 73927928 A G - - - - - - 37 0 0 50 7 14 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.541586074 0.541586074 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 6.46E-09 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 74410344 T A CNTN3 CCDS33790.1 r.? - - intronic 44 0 0 39 6 15.4 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 4.43E-08 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 74457609 C T CNTN3 CCDS33790.1 r.? - - intronic 29 0 0 43 9 20.9 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.808510638 0.808510638 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 75021494 A C - - - - - - 41 0 0 41 11 26.8 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 75045505 A G - - - - - - 46 0 0 45 12 26.7 50 11 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 6.03E-18 1 1.52E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 76016120 C T ROBO2 ENST00000487694 r.? - - intronic 34 0 0 69 10 14.5 64 4 6.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.560928433 0.560928433 1 0.276169265 0.276169265 1 NA NA 1 NA NA 1 4 NA 1 1 2.54E-12 1 0.000312605 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 76030011 A T ROBO2 ENST00000487694 r.? - - intronic 37 0 0 38 6 15.8 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.611218569 0.611218569 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 76054342 T G ROBO2 ENST00000487694 r.? - - intronic 40 0 0 51 17 33.3 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 9.59E-27 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 76153814 A T ROBO2 ENST00000487694 r.? - - intronic 44 0 0 47 15 31.9 49 12 24.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.234042553 1.234042553 1 1.091314031 1.091314031 1 NA NA 1 NA NA 1 5 NA 1 1 1.97E-23 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 76227048 C A ROBO2 ENST00000487694 r.? - - intronic 24 0 0 43 14 32.6 52 11 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 76506312 A T ROBO2 ENST00000487694 r.? - - intronic 31 0 0 31 10 32.3 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 1.287305122 1.287305122 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 76551544 A T ROBO2 ENST00000487694 r.? - - intronic 46 0 0 39 10 25.6 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 76723619 G C ROBO2 ENST00000487694 r.? - - intronic 34 0 0 34 7 20.6 37 4 10.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 0.481069042 0.481069042 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 76747874 T A ROBO2 ENST00000487694 r.? - - intronic 46 0 0 35 11 31.4 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 76903577 A C ROBO2 ENST00000487694 r.? - - intronic 44 0 0 38 12 31.6 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 77023029 G C ROBO2 ENST00000487694 r.? - - intronic 29 0 0 32 9 28.1 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 77099690 T C ROBO2 CCDS43109.1 r.? - - intronic 42 0 0 36 8 22.2 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 77219684 T A ROBO2 CCDS43109.1 r.? - - intronic 28 0 0 29 8 27.6 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 77527381 T A ROBO2 CCDS43109.1 r.? - - intronic 38 0 0 42 5 11.9 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.460348162 0.460348162 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000228 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 77922438 T A - - - - - - 43 0 0 42 9 21.4 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 77926562 C A - - - - - - 26 0 0 34 9 26.5 16 5 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 0.000000013 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 78033879 G A - - - - - - 36 0 0 47 10 21.3 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.823984526 0.823984526 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 78318030 G A - - - - - - 30 0 0 36 10 27.8 36 6 16.7 0 0 NA 1 1 100 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 0.743875278 0.743875278 1 3.868471954 3.868471954 1 NA NA 1 5 NA 1 1 2.21E-15 0.005 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 78862840 G C ROBO1 CCDS46872.1 r.? - - intronic 35 0 0 43 11 25.6 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 79234272 C A ROBO1 ENST00000464233 r.? - - intronic 40 0 0 37 11 29.7 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.14893617 1.14893617 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 79270330 A T ROBO1 ENST00000464233 r.? - - intronic 28 0 0 33 10 30.3 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 79520473 G A ROBO1 ENST00000464233 r.? - - intronic 38 0 0 45 6 13.3 38 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.51450677 0.51450677 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000108 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 79692536 T C ROBO1 ENST00000464233 r.? - - intronic 20 0 0 36 10 27.8 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 80450952 C T - - - - - - 24 0 0 41 6 14.6 30 3 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.564796905 0.564796905 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 6.05E-08 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 80652064 A T - - - - - - 31 0 0 43 12 27.9 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 80708538 C A - - - - - - 33 0 0 36 12 33.3 36 13 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.608017817 1.608017817 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 80756052 A T - - - - - - 28 0 0 36 12 33.3 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 81325294 G C - - - - - - 31 0 0 31 9 29 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 1.407572383 1.407572383 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 81458327 A C - - - - - - 37 0 0 36 15 41.7 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.613152805 1.613152805 1 1.064587973 1.064587973 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-25 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 81495326 G A - - - - - - 34 0 0 27 6 22.2 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 4.23E-09 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 81501494 G C - - - - - - 38 0 0 34 6 17.6 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-08 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 81689905 G A GBE1 ENST00000429644 r.? - - intronic 38 0 0 44 11 25 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 82037838 A T - - - - - - 35 0 0 42 10 23.8 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.828507795 0.828507795 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 82153544 T C - - - - - - 32 0 0 41 10 24.4 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 82506366 A G - - - - - - 35 0 0 37 13 35.1 49 9 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.357833656 1.357833656 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 82578403 C A - - - - - - 28 0 0 35 9 25.7 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 82723074 A T - - - - - - 37 0 0 39 12 30.8 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 82743318 A C - - - - - - 35 0 0 51 17 33.3 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 9.59E-27 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 82856529 T A - - - - - - 27 0 0 36 9 25 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 82899532 C T - - - - - - 40 0 0 30 10 33.3 45 15 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 9.14E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 83138503 T A - - - - - - 34 0 0 33 9 27.3 38 4 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.467706013 0.467706013 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 83548919 T A - - - - - - 41 0 0 40 9 22.5 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 83592186 G T - - - - - - 35 0 0 40 15 37.5 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 1.523385301 1.523385301 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-24 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 83825737 C A - - - - - - 37 0 0 56 17 30.4 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.176015474 1.176015474 1 1.305122494 1.305122494 1 NA NA 1 NA NA 1 5 NA 1 1 6.22E-26 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 84126911 C G - - - - - - 33 0 0 44 14 31.8 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.230174081 1.230174081 1 1.153674833 1.153674833 1 NA NA 1 NA NA 1 5 NA 1 1 6.1E-22 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 84173231 G C - - - - - - 33 0 0 34 10 29.4 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 84242250 A G - - - - - - 30 0 0 41 11 26.8 37 14 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 1.683741648 1.683741648 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 84633629 G A - - - - - - 31 0 0 31 7 22.6 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 85297177 A T CADM2 ENST00000383699 r.? - - intronic 29 0 0 38 9 23.7 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 85459473 C G CADM2 ENST00000383699 r.? - - intronic 33 0 0 31 11 35.5 54 15 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.373307544 1.373307544 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 2.2E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 85933971 T A CADM2 CCDS33792.1 r.? - - intronic 29 0 0 43 10 23.3 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 86018219 C G CADM2 CCDS33792.1 r.? - - intronic 36 0 0 33 12 36.4 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.408123791 1.408123791 1 0.873051225 0.873051225 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 86028263 T A CADM2 CCDS33792.1 r.? - - intronic 38 0 0 52 11 21.2 47 9 19.1 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 0.85077951 0.85077951 1 NA NA 1 0 0 1 5 NA 1 1 2.44E-15 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 86167935 A G - - - - - - 32 0 0 44 13 29.5 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 86674817 G C - - - - - - 21 0 0 30 8 26.7 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 0.650334076 0.650334076 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 86808919 G T - - - - - - 34 0 0 33 6 18.2 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 86933145 T A - - - - - - 42 0 0 38 11 28.9 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 86997004 T G VGLL3 CCDS43110.1 r.? - - intronic 34 0 0 39 11 28.2 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 87053352 A C - - - - - - 33 0 0 39 14 35.9 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.388781431 1.388781431 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 87412356 T A - - - - - - 37 0 0 39 10 25.6 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 87508789 G T - - - - - - 35 0 0 31 8 25.8 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 0.873051225 0.873051225 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 87630387 C T - - - - - - 39 0 0 44 10 22.7 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 88144044 T A CGGBP1 CCDS43111.1 r.? - - intronic 38 0 0 31 8 25.8 44 14 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 1.416481069 1.416481069 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 88424074 A G - - - - - - 39 0 0 43 9 20.9 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.808510638 0.808510638 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 88471885 C A - - - - - - 40 0 0 42 13 31 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 0.726057906 0.726057906 1 NA NA 1 NA NA 1 5 NA 1 1 2.72E-20 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 88549119 T C - - - - - - 31 0 0 41 10 24.4 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 89014905 T C - - - - - - 34 0 0 50 17 34 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.315280464 1.315280464 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 6.43E-27 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 89046137 A C - - - - - - 32 0 0 45 7 15.6 32 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000003 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 89142805 C G - - - - - - 44 0 0 36 7 19.4 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 89182966 G T EPHA3 CCDS2922.1 r.? - - intronic 32 0 0 33 8 24.2 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 1.287305122 1.287305122 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 89300390 A G EPHA3 CCDS2922.1 r.? - - intronic 27 0 0 42 10 23.8 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 89405346 G T EPHA3 CCDS2922.1 r.? - - intronic 30 0 0 35 8 22.9 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.855233853 0.855233853 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 89491220 T A EPHA3 CCDS2922.1 r.? - - intronic 34 0 0 46 13 28.3 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.094777563 1.094777563 1 1.011135857 1.011135857 1 NA NA 1 NA NA 1 5 NA 1 1 1.07E-19 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 89648645 G A - - - - - - 35 0 0 37 8 21.6 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 89672706 G A - - - - - - 34 0 0 35 9 25.7 24 3 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 89894218 A T - - - - - - 43 0 0 47 13 27.7 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.071566731 1.071566731 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-19 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 89923011 C G - - - - - - 17 0 0 13 3 23.1 12 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000344 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 89943258 A T - - - - - - 33 0 0 33 12 36.4 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.408123791 1.408123791 1 1.318485523 1.318485523 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 89970930 T C - - - - - - 33 0 0 34 13 38.2 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.477756286 1.477756286 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 90063138 G A - - - - - - 38 0 0 48 15 31.2 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.86E-23 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 93995369 C G - - - - - - 47 0 0 42 17 40.5 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.566731141 1.566731141 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 1.73E-28 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 94010227 A T - - - - - - 37 0 0 33 8 24.2 46 12 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 1.162583519 1.162583519 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 8.12E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 94049022 T G - - - - - - 42 0 0 37 8 21.6 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 94697495 G C - - - - - - 34 0 0 49 13 26.5 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.828507795 0.828507795 1 NA NA 1 NA NA 1 5 NA 1 1 2.71E-19 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 94744460 G T - - - - - - 34 0 0 43 12 27.9 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 94959107 A G - - - - - - 36 0 0 41 12 29.3 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 1.162583519 1.162583519 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 95089186 T A - - - - - - 32 0 0 32 6 18.8 15 2 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 0.002513772 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 95131389 C T - - - - - - 26 0 0 43 14 32.6 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 95250055 A G - - - - - - 48 0 0 42 10 23.8 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 95416101 A C - - - - - - 38 0 0 32 9 28.1 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 95479223 A T - - - - - - 33 0 0 42 9 21.4 41 3 7.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.325167038 0.325167038 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 95755050 A T - - - - - - 35 0 0 30 6 20 50 7 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.623608018 0.623608018 1 NA NA 1 NA NA 1 5 NA 1 1 8.37E-09 1 6.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 95948960 C G - - - - - - 33 0 0 35 12 34.3 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.32688588 1.32688588 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 96083125 G T - - - - - - 25 0 0 31 6 19.4 28 3 10.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.476614699 0.476614699 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-08 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 96125669 T A - - - - - - 32 0 0 46 16 34.8 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.34622824 1.34622824 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 1.31E-25 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 96202148 T C - - - - - - 31 0 0 48 7 14.6 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.564796905 0.564796905 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 4.81E-09 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 96396246 A T - - - - - - 30 0 0 35 10 28.6 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 96496444 A C - - - - - - 32 0 0 40 13 32.5 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 96756999 T A EPHA6 CCDS46876.1 r.? - - intronic 39 0 0 38 8 21.1 47 13 27.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 1.233853007 1.233853007 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 96960443 T A EPHA6 CCDS46876.1 r.? - - intronic 35 0 0 42 15 35.7 23 2 8.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.381044487 1.381044487 1 0.38752784 0.38752784 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 97015584 C A EPHA6 CCDS46876.1 r.? - - intronic 36 0 0 38 13 34.2 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 0.538975501 0.538975501 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 97035966 A C EPHA6 CCDS46876.1 r.? - - intronic 32 0 0 34 5 14.7 48 15 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.568665377 0.568665377 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 2.86E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 97096380 G T EPHA6 CCDS46876.1 r.? - - intronic 43 0 0 36 7 19.4 26 11 42.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.884187082 1.884187082 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 3.52E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 97772198 A C - - - - - - 52 0 0 47 13 27.7 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.071566731 1.071566731 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-19 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 97796236 A G - - - - - - 30 0 0 39 10 25.6 41 13 31.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.412026726 1.412026726 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 1.89E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 97815102 C T OR5AC2 ENST00000394195 r.? - - intronic 39 0 0 29 8 27.6 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 98024209 G A - - - - - - 30 0 0 39 11 28.2 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 98032215 A C - - - - - - 34 0 0 42 9 21.4 52 14 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 9.04E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 98105116 T C OR5K3 CCDS33803.1 r.? - - upstream 43 0 0 35 8 22.9 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 98223398 A C CLDND1 ENST00000507874 r.? - - intronic 38 0 0 41 14 34.1 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-22 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 98331633 G C - - - - - - 34 0 0 36 7 19.4 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 99077350 T G - - - - - - 31 0 0 39 12 30.8 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 99355029 A G COL8A1 CCDS2934.1 r.? - - upstream 43 0 0 50 14 28 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.083172147 1.083172147 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 4.84E-21 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 99389536 G T COL8A1 CCDS2934.1 r.? - - intronic 29 0 0 38 10 26.3 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 100254377 C A TMEM45A CCDS2937.1 r.? - - intronic 33 0 0 51 13 25.5 36 12 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 4.87E-19 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 100396228 A C GPR128 CCDS2938.1 r.? - - intronic 42 0 0 34 9 26.5 47 4 8.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.378619154 0.378619154 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 0.0000939 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 100620905 C A ABI3BP CCDS46880.1 r.? - - intronic 32 0 0 53 11 20.8 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 3.07E-15 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 100640511 A C ABI3BP CCDS46880.1 r.? - - intronic 41 0 0 41 10 24.4 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 100893327 C A - - - - - - 29 0 0 40 18 45 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.740812379 1.740812379 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 3.9E-31 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 101257324 T A - - - - - - 31 0 0 39 10 25.6 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 101257325 C A - - - - - - 30 0 0 38 9 23.7 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 101998888 C T ZPLD1 ENST00000491959 r.? - - intronic 36 0 0 42 10 23.8 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 102033396 T C ZPLD1 ENST00000491959 r.? - - intronic 34 0 0 46 16 34.8 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.34622824 1.34622824 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 1.31E-25 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 102105026 G A ZPLD1 ENST00000491959 r.? - - intronic 39 0 0 37 9 24.3 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 102154640 C A ZPLD1 CCDS2947.1 r.? - - intronic 30 0 0 39 6 15.4 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 4.43E-08 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 102814738 A T - - - - - - 33 0 0 42 8 19 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.735009671 0.735009671 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 103046355 G A - - - - - - 36 0 0 38 12 31.6 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 103076423 G T - - - - - - 33 0 0 35 7 20 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 103216725 C A - - - - - - 40 0 0 46 16 34.8 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.34622824 1.34622824 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.31E-25 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 103272896 C G - - - - - - 35 0 0 35 5 14.3 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 103784890 T A - - - - - - 36 0 0 34 7 20.6 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 103837952 A C - - - - - - 41 0 0 45 8 17.8 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.688588008 0.688588008 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 103952399 C T - - - - - - 38 0 0 33 6 18.2 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 104077205 T A - - - - - - 32 1 3.1 38 10 26.3 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 0.14819814 1 4.06E-15 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 104292034 C G - - - - - - 34 0 0 48 7 14.6 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.564796905 0.564796905 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 4.81E-09 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 104339641 C T - - - - - - 40 0 0 39 8 20.5 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 104457049 G C - - - - - - 37 0 0 36 9 25 51 11 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 1.94E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 104634002 G C - - - - - - 43 0 0 37 12 32.4 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 0.828507795 0.828507795 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 104881784 G C - - - - - - 38 0 0 32 8 25 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 105111502 A C ALCAM CCDS33810.1 r.? - - intronic 37 0 0 39 12 30.8 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 105155394 A C ALCAM CCDS33810.1 r.? - - intronic 21 0 0 28 5 17.9 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.162583519 1.162583519 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000279 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 105867759 C G - - - - - - 32 0 0 35 5 14.3 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.712694878 0.712694878 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 106205588 T A - - - - - - 30 0 0 39 14 35.9 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.388781431 1.388781431 1 1.523385301 1.523385301 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 106276289 C T - - - - - - 32 0 0 40 7 17.5 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.676982592 0.676982592 1 1.407572383 1.407572383 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 106703754 T C - - - - - - 36 0 0 39 11 28.2 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 106715499 C A - - - - - - 30 0 0 45 16 35.6 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.377176015 1.377176015 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-26 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 106809690 T G - - - - - - 27 0 0 34 4 11.8 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.456479691 0.456479691 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000257 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 107175525 C T AC068765.1 ENST00000499000 r.? - - intronic 28 0 0 40 9 22.5 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 107207011 T C - - - - - - 32 0 0 40 8 20 55 10 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 2.33E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 107266485 C A BBX CCDS2950.1 r.? - - intronic 42 0 0 46 13 28.3 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.094777563 1.094777563 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 1.07E-19 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 107343545 G A BBX CCDS2950.1 r.? - - intronic 28 0 0 35 6 17.1 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 107552348 G C - - - - - - 38 0 0 42 15 35.7 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.381044487 1.381044487 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 108518888 T G - - - - - - 30 0 0 41 11 26.8 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 108541625 G T TRAT1 CCDS33813.1 r.81g>u c.? p.? 5'UTR variant 37 0 0 38 9 23.7 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 108670693 A T GUCA1C CCDS2954.1 r.? - - intronic 25 0 0 52 7 13.5 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.522243714 0.522243714 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 8.58E-09 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 108789449 A C MORC1 CCDS2955.1 r.? - - intronic 32 0 0 38 11 28.9 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 109041869 T A DPPA4 CCDS33814.1 r.? - - downstream 21 0 0 38 10 26.3 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 109387366 G A - - - - - - 30 0 0 42 6 14.3 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 7.02E-08 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 109691871 A G - - - - - - 44 0 0 32 15 46.9 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.814313346 1.814313346 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.59E-26 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 109757261 A G - - - - - - 41 0 0 31 6 19.4 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-08 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 109813255 T C - - - - - - 37 0 0 38 10 26.3 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 110084361 G C - - - - - - 26 0 0 38 8 21.1 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 110421996 A C - - - - - - 37 0 0 36 12 33.3 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 110499487 C A - - - - - - 26 0 0 34 10 29.4 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 110607125 C A ENSG00000206532 ENST00000485473 r.? - - downstream 34 0 0 34 11 32.4 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 110794503 A G PVRL3 CCDS2957.1 r.? - - intronic 39 0 0 32 11 34.4 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.330754352 1.330754352 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 110947867 C A PVRL3 ENST00000485506 r.? - - intronic 36 0 0 43 7 16.3 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.630560928 0.630560928 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 2.15E-09 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 111864682 G T SLC9A10 CCDS33817.1 r.? - - intronic 31 0 0 29 8 27.6 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 112425919 A T - - - - - - 41 0 0 35 10 28.6 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 112442089 C A - - - - - - 36 0 0 30 11 36.7 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.419729207 1.419729207 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 113383401 C T KIAA2018 CCDS43133.1 r.? - - intronic 39 0 0 44 14 31.8 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.230174081 1.230174081 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 6.1E-22 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 113469056 C G ATP6V1A CCDS2976.1 r.? - - intronic 32 0 0 36 6 16.7 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 113541403 G C - - - - - - 35 0 0 44 11 25 39 4 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.458797327 0.458797327 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 114599101 C G ZBTB20 CCDS2981.1 r.? - - intronic 35 0 0 40 10 25 46 10 21.7 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.966592428 0.966592428 1 NA NA 1 0 0 1 5 NA 1 1 7.22E-15 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 114692730 T A ZBTB20 CCDS2981.1 r.? - - intronic 36 0 0 28 6 21.4 41 11 26.8 0 0 NA 0 0 NA 1 1 100 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.19376392 1.19376392 1 NA NA 1 4.454342984 4.454342984 1 5 NA 1 1 5.36E-09 1 1.34E-16 0.005 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 115422971 T C GAP43 CCDS46890.1 r.? - - intronic 45 0 0 34 11 32.4 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 115471684 G T - - - - - - 30 0 0 49 12 24.5 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.947775629 0.947775629 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 115731521 C A LSAMP CCDS2982.1 r.? - - intronic 30 0 0 44 13 29.5 45 14 31.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 1.385300668 1.385300668 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 115794426 T G LSAMP CCDS2982.1 r.? - - intronic 32 0 0 33 9 27.3 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 115803186 A T LSAMP CCDS2982.1 r.? - - intronic 34 0 0 28 11 39.3 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.520309478 1.520309478 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 115833374 G A LSAMP CCDS2982.1 r.? - - intronic 42 0 0 35 10 28.6 53 19 35.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.594654788 1.594654788 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 1.93E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 115861742 T A LSAMP CCDS2982.1 r.? - - intronic 41 0 0 30 12 40 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.547388781 1.547388781 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 116000461 T A LSAMP CCDS2982.1 r.? - - intronic 30 0 0 38 8 21.1 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 116302600 G A LSAMP ENST00000474851 r.? - - intronic 36 0 0 28 8 28.6 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 116314331 G T LSAMP ENST00000474851 r.? - - intronic 25 0 0 34 8 23.5 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 0.579064588 0.579064588 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 116426797 A T LSAMP ENST00000474851 r.? - - intronic 39 0 0 31 7 22.6 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 116430324 C T LSAMP ENST00000474851 r.? - - intronic 53 0 0 40 14 35 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.353965184 1.353965184 1 0.792873051 0.792873051 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-22 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 116990078 C A - - - - - - 29 0 0 30 5 16.7 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 117002535 C G - - - - - - 47 0 0 34 7 20.6 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 117033657 A G - - - - - - 43 0 0 35 11 31.4 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 117081194 G T - - - - - - 32 0 0 44 12 27.3 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.153674833 1.153674833 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 117290385 A C - - - - - - 36 0 0 29 9 31 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 117307762 G T - - - - - - 27 0 0 43 14 32.6 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 117581028 C A - - - - - - 32 0 0 34 7 20.6 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 1.563474388 1.563474388 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 117661562 G T - - - - - - 28 0 0 40 7 17.5 49 13 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.676982592 0.676982592 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 2.71E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 117755048 C G - - - - - - 29 0 0 33 6 18.2 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 117873266 C T - - - - - - 25 0 0 45 13 28.9 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 7.68E-20 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 118047289 A T - - - - - - 35 0 0 39 12 30.8 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 118074859 C A - - - - - - 20 0 0 41 9 22 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 1.167037862 1.167037862 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 118372196 T A - - - - - - 48 0 0 41 15 36.6 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.415860735 1.415860735 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 1.71E-24 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 118480133 G A - - - - - - 27 0 0 39 12 30.8 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 118964542 C G B4GALT4 CCDS2986.1 r.? - - upstream 35 0 0 33 6 18.2 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 119121562 T C ARHGAP31 CCDS43135.1 r.? - - intronic 33 0 0 39 10 25.6 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 119257031 A T CD80 CCDS2989.1 r.? - - intronic 32 0 0 36 15 41.7 51 10 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.613152805 1.613152805 1 0.873051225 0.873051225 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-25 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 119417365 A T C3orf15 CCDS2994.1 r.? - - upstream 33 0 0 39 5 12.8 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.49516441 0.49516441 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000156 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 120024465 G A - - - - - - 35 0 0 41 8 19.5 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.754352031 0.754352031 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 120369222 C A HGD CCDS3000.1 r.? - - intronic 37 0 0 39 11 28.2 42 14 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 120735693 C G STXBP5L CCDS43137.1 r.? - - intronic 35 0 0 44 10 22.7 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 120757463 G T STXBP5L CCDS43137.1 r.? - - intronic 52 0 0 41 9 22 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 120788594 C A STXBP5L CCDS43137.1 r.? - - intronic 35 0 0 39 9 23.1 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 120900398 T C STXBP5L CCDS43137.1 r.? - - intronic 26 0 0 32 8 25 25 10 40 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 3.69E-12 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 120900974 G T STXBP5L CCDS43137.1 r.? - - intronic 42 0 0 30 6 20 38 7 18.4 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 8.37E-09 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 120959050 T A STXBP5L CCDS43137.1 r.? - - intronic 33 0 0 48 7 14.6 45 4 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.002796905 1.002796905 1 0.485436526 0.485436526 1 NA NA 1 NA NA 0 5 NA 1 1 4.81E-09 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 121265699 A G POLQ CCDS33833.1 r.? - - upstream 37 0 0 58 20 34.5 51 12 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.369622824 1.184811412 2 1.281770601 1.281770601 1 NA NA 1 NA NA 0 5 NA 1 1 1.47E-31 1 3.24E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 121599452 T A EAF2 CCDS3006.1 r.? - - intronic 46 0 0 48 6 12.5 39 0 0 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 0.858558994 0.858558994 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.00000016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 121644206 C G SLC15A2 CCDS3007.1 r.? - - intronic 40 0 0 67 13 19.4 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.332483559 1.332483559 1 1.767207127 0.883603563 2 NA NA 1 NA NA 0 5 NA 1 1 2.41E-17 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 121644771 C G SLC15A2 CCDS3007.1 r.? - - intronic 20 0 0 35 4 11.4 33 0 0 0 0 NA 0 0 NA 1 1 100 FALSE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 0.783005803 0.783005803 1 0 NA 0 NA NA 1 5.454342984 5.454342984 1 NA NA 1 1 0.0000289 1 1 0.005 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 121714134 C G ILDR1 CCDS3008.1 r.? - - intronic 32 0 0 50 8 16 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.098955513 1.098955513 1 0.725427617 0.725427617 1 NA NA 1 NA NA 0 5 NA 1 1 1.74E-10 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 121766170 G T - - - - - - 29 0 0 49 9 18.4 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.263798839 1.263798839 1 0.681792873 0.681792873 1 NA NA 1 NA NA 0 5 NA 1 1 3.35E-12 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 121997706 G T CASR CCDS3010.1 r.? - - intronic 43 0 0 53 13 24.5 47 3 6.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.682775629 0.841387814 2 0.349077951 0.349077951 1 NA NA 1 NA NA 0 5 NA 1 1 8.53E-19 1 0.001719595 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 122092109 G C CCDC58 CCDS33838.1 r.? - - intronic 30 0 0 44 6 13.6 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 0.934112186 0.934112186 1 0.741790646 0.741790646 1 NA NA 1 NA NA 0 5 NA 1 1 9.37E-08 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 122308138 G C PARP15 CCDS46893.1 r.? - - intronic 30 0 0 54 16 29.6 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.033067698 1.016533849 2 1.29813363 1.29813363 1 NA NA 1 NA NA 0 5 NA 1 1 2.69E-24 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 122653905 C T SEMA5B CCDS35491.1 r.? - - intronic 34 0 0 36 11 30.6 37 16 43.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.101752418 1.050876209 2 2.356276169 1.178138085 2 NA NA 1 NA NA 0 5 NA 1 1 2.62E-17 1 1.78E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 122678880 C G SEMA5B CCDS35491.1 r.? - - intronic 47 0 0 52 22 42.3 50 18 36 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.905363636 0.968454545 3 1.963563474 0.981781737 2 NA NA 1 NA NA 0 5 NA 1 1 5.59E-37 1 5.92E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 122708382 C A SEMA5B CCDS35491.1 r.? - - intronic 21 0 0 48 16 33.3 39 16 41 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.287201161 1.14360058 2 2.236280624 1.118140312 2 NA NA 1 NA NA 0 5 NA 1 1 2.96E-25 1 5.16E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 123064407 T C ADCY5 CCDS3022.1 r.? - - intronic 29 0 0 44 18 40.9 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.809205029 0.936401676 3 1.527216036 1.527216036 1 NA NA 1 NA NA 0 5 NA 1 1 3.47E-30 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 123411334 C G MYLK CCDS3023.1 r.? - - intronic 28 0 0 44 17 38.6 32 11 34.4 2 0 0 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.651230174 0.883743391 3 1.876293987 0.938146993 2 NA NA 1 NA NA 0 5 NA 1 1 4.61E-28 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 123997507 C T KALRN CCDS3027.1 r.? - - intronic 33 0 0 46 15 32.6 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.239121857 1.119560928 2 1.325405345 1.325405345 1 NA NA 1 NA NA 0 5 NA 1 1 1.35E-23 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 124125601 A G KALRN CCDS3027.1 r.? - - intronic 40 0 0 54 20 37 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.541334623 0.847111541 3 2.045378619 1.02268931 2 NA NA 1 NA NA 0 5 NA 1 1 2.61E-32 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 124460589 G C UMPS CCDS3029.1 r.? - - intronic 35 0 0 47 12 25.5 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.751460348 0.875730174 2 1.292679287 1.292679287 1 NA NA 1 NA NA 0 5 NA 1 1 1.09E-17 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 124657519 G T MUC13 CCDS33839.1 r.? - - upstream 34 0 0 42 5 11.9 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 0.817348162 0.817348162 1 1.270861915 1.270861915 1 NA NA 1 NA NA 0 5 NA 1 1 0.00000228 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 124764584 C T HEG1 CCDS46898.1 r.? - - intronic 27 0 0 52 15 28.8 48 5 10.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.978119923 0.989059961 2 0.56725167 0.56725167 1 NA NA 1 NA NA 0 5 NA 1 1 1.15E-22 1 0.00000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 125218438 C A SNX4 CCDS3032.1 r.? - - intronic 32 0 0 49 13 26.5 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.820145068 0.910072534 2 0.698155902 0.698155902 1 NA NA 1 NA NA 0 5 NA 1 1 2.71E-19 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 125618059 C G - - - - - - 22 0 0 53 17 32.1 34 14 41.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.204779497 1.102389749 2 2.24718931 1.123594655 2 NA NA 1 NA NA 0 5 NA 1 1 2.08E-26 1 7.74E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 125829151 G A ALDH1L1 CCDS3034.1 r.? - - intronic 24 0 0 47 13 27.7 46 19 41.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.902566731 0.951283366 2 2.252643653 1.126321826 2 NA NA 1 NA NA 0 5 NA 1 1 1.47E-19 1 6.97E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 125872764 G T ALDH1L1 CCDS3034.1 r.? - - intronic 32 0 0 37 9 24.3 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.669038685 1.669038685 1 0.741790646 0.741790646 1 NA NA 1 NA NA 0 5 NA 1 1 2.14E-13 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 126050475 G C - - - - - - 35 0 0 58 16 27.6 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.895698259 0.94784913 2 1.319951002 1.319951002 1 NA NA 1 NA NA 0 5 NA 1 1 1E-23 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 126467717 G C CHCHD6 CCDS3041.1 r.? - - intronic 31 0 0 52 14 26.9 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.847618956 0.923809478 2 1.767207127 0.883603563 2 NA NA 1 NA NA 0 5 NA 1 1 9.04E-21 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 126590094 C G CHCHD6 CCDS3041.1 r.? - - intronic 41 0 0 59 11 18.6 49 7 14.3 2 0 0 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.277535783 1.277535783 1 0.779971047 0.779971047 1 NA NA 1 NA NA 0 5 NA 1 1 1.1E-14 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 126713289 C T PLXNA1 CCDS33847.1 r.? - - intronic 29 0 0 34 5 14.7 48 12 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.009665377 1.009665377 1 1.363585746 1.363585746 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000771 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 126917557 T C C3orf56 ENST00000398112 r.? - - downstream 29 0 0 60 23 38.3 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.630624758 0.876874919 3 0.981781737 0.981781737 1 NA NA 1 NA NA 0 5 NA 1 1 2.33E-37 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 126957915 T G - - - - - - 38 0 0 50 21 42 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.884758221 0.961586074 3 1.914474388 0.957237194 2 NA NA 1 NA NA 0 5 NA 1 1 2.79E-35 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 127064115 C T - - - - - - 26 0 0 51 16 31.4 48 17 35.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.156700193 1.078350097 2 1.930837416 0.965418708 2 NA NA 1 NA NA 0 5 NA 1 1 9.28E-25 1 2.8E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 127848864 C T RUVBL1 ENST00000464873 r.? - - intronic 54 0 0 50 18 36 44 14 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.472649903 0.824216634 3 1.734481069 0.867240535 2 NA NA 1 NA NA 0 5 NA 1 1 5.92E-29 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 128338967 A C RPN1 CCDS3051.1 r.2160u>g c.? p.? 3'UTR variant 25 0 0 51 11 21.6 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.483589942 1.483589942 1 0.910875278 0.910875278 1 NA NA 1 NA NA 0 5 NA 1 1 1.94E-15 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 128700835 T G KIAA1257 CCDS46905.1 r.? - - intronic 39 0 0 42 17 40.5 43 16 37.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.781731141 0.927243714 3 2.02901559 1.014507795 2 NA NA 1 NA NA 0 5 NA 1 1 1.73E-28 1 3.56E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 128722491 G A CCDC48 ENST00000480450 r.? - - intronic 34 0 0 43 13 30.2 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.07427853 1.037139265 2 1.090868597 1.090868597 1 NA NA 1 NA NA 0 5 NA 1 1 3.88E-20 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 128755396 G A ENSG00000250460 CCDS3054.1 r.? - - intronic 25 0 0 46 8 17.4 40 3 7.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.19511412 1.19511412 1 0.409075724 0.409075724 1 NA NA 1 NA NA 0 5 NA 1 1 8.61E-11 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 128871532 A G ISY1 CCDS43149.1 r.? - - intronic 32 1 3.1 35 14 40 49 21 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.747388781 0.91579626 3 2.33991314 1.16995657 2 NA NA 1 NA NA 0 5 NA 0.14819814 1 1.28E-23 1 1.63E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 128987225 T C COPG CCDS33851.1 r.? - - intronic 33 0 0 40 11 27.5 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.888829787 0.944414894 2 1.292679287 1.292679287 1 NA NA 1 NA NA 0 5 NA 1 1 9.88E-17 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 129280195 G C PLXND1 CCDS33854.1 r.? - - intronic 41 0 0 50 12 24 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.648433269 0.824216634 2 1.047233853 1.047233853 1 NA NA 1 NA NA 0 5 NA 1 1 2.49E-17 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 129401059 C G TMCC1 CCDS33855.1 r.? - - intronic 27 0 0 42 19 45.2 45 15 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 3.104549323 1.034849774 3 1.816296214 0.908148107 2 NA NA 1 NA NA 0 5 NA 1 1 7.64E-33 1 9.14E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 129462595 C G TMCC1 CCDS33855.1 r.? - - intronic 37 0 0 55 6 10.9 45 0 0 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 0.748663443 0.748663443 1 0 NA 0 NA NA 1 NA NA 0 NA NA 1 1 0.000000367 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 129588964 C T TMCC1 CCDS33855.1 r.? - - intronic 38 0 0 48 8 16.7 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.147034816 1.147034816 1 1.069051225 1.069051225 1 NA NA 1 NA NA 0 5 NA 1 1 1.23E-10 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 129784542 C G - - - - - - 37 0 0 48 9 18.8 48 5 10.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.291272727 1.291272727 1 0.56725167 0.56725167 1 NA NA 1 NA NA 0 5 NA 1 1 2.75E-12 1 0.00000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 130292004 C A COL6A6 CCDS46911.1 r.? - - intronic 34 0 0 43 20 46.5 45 17 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 3.193839458 1.064613153 3 2.061741648 1.030870824 2 NA NA 1 NA NA 0 5 NA 1 1 8.21E-35 1 7.37E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 130297593 G T COL6A6 CCDS46911.1 r.? - - intronic 34 0 0 50 19 38 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.610019342 0.870006447 3 1.472672606 1.472672606 1 NA NA 1 NA NA 0 5 NA 1 1 5E-31 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 130386927 G T COL6A6 CCDS46911.1 r.? - - intronic 33 0 0 43 9 20.9 43 8 18.6 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.435510638 1.435510638 1 1.014507795 1.014507795 1 NA NA 1 0 NA 0 5 NA 1 1 9.45E-13 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 130550646 A G - - - - - - 55 0 0 44 10 22.7 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.559143133 1.559143133 1 1.559942094 1.559942094 1 NA NA 1 NA NA 0 5 NA 1 1 2.08E-14 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 130959204 G C NEK11 CCDS3069.1 r.? - - intronic 29 0 0 65 16 24.6 49 15 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.689644101 0.84482205 2 1.669028953 0.834514477 2 NA NA 1 NA NA 0 5 NA 1 1 7.85E-23 1 4.1E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 131236247 C A - - - - - - 24 0 0 44 11 25 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.717117988 0.858558994 2 0.796334076 0.796334076 1 NA NA 1 NA NA 0 5 NA 1 1 3.22E-16 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 131374465 T G CPNE4 CCDS3072.1 r.? - - intronic 33 0 0 47 15 31.9 36 15 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.191042553 1.095521277 2 2.274461024 1.137230512 2 NA NA 1 NA NA 0 5 NA 1 1 1.97E-23 1 1.54E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 131433353 T C CPNE4 CCDS3072.1 r.? - - intronic 26 0 0 51 21 41.2 43 13 30.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.829810445 0.943270148 3 1.647211581 0.823605791 2 NA NA 1 NA NA 0 5 NA 1 1 4.73E-35 1 3.88E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 131518096 G T CPNE4 CCDS3072.1 r.? - - intronic 25 0 0 60 14 23.3 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.600353965 0.800176983 2 1.183592428 1.183592428 1 NA NA 1 NA NA 0 5 NA 1 1 8.54E-20 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 131549071 T C CPNE4 CCDS3072.1 r.? - - intronic 32 0 0 41 7 17.1 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.174508704 1.174508704 1 0.83996882 0.83996882 1 NA NA 1 NA NA 0 5 NA 1 1 1.51E-09 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 131829086 C G CPNE4 ENST00000512055 r.? - - intronic 33 0 0 42 18 42.9 37 16 43.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.946574468 0.982191489 3 2.356276169 1.178138085 2 NA NA 1 NA NA 0 5 NA 1 1 1.2E-30 1 1.78E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 132459145 G C - - - - - - 30 0 0 55 8 14.5 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 0.995928433 0.995928433 1 0.976327394 0.976327394 1 NA NA 1 NA NA 0 5 NA 1 1 3.86E-10 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 132495116 C G - - - - - - 22 0 0 39 6 15.4 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.057744681 1.057744681 1 0.850877506 0.850877506 1 NA NA 1 NA NA 0 5 NA 1 1 4.43E-08 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 132505290 G A - - - - - - 28 0 0 55 15 27.3 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.875092843 0.937546422 2 1.014507795 1.014507795 1 NA NA 1 NA NA 0 5 NA 1 1 3.01E-22 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 132640117 T C - - - - - - 37 0 0 54 19 35.2 52 13 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 2.417702128 0.805900709 3 1.363585746 1.363585746 1 NA NA 1 NA NA 0 5 NA 1 1 2.97E-30 1 6.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 134249506 T G CEP63 CCDS3086.1 r.? - - intronic 35 0 0 56 17 30.4 64 11 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.088015474 1.044007737 2 1.037491558 1.037491558 1 NA NA 1 NA NA 0 5 NA 1 1 6.22E-26 1 2.85E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 134484291 A T EPHB1 ENST00000460895 r.? - - intronic 38 0 0 47 14 29.8 45 15 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.046804642 1.023402321 2 2.008631912 1.004315956 2 NA NA 1 NA NA 0 5 NA 1 1 1.79E-21 1 9.14E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 135009527 C A - - - - - - 47 0 0 57 24 42.1 57 24 42.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.891626692 0.963875564 3 2.539441547 0.985201986 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 3.83E-40 1 3.83E-40 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 135433706 C A - - - - - - 35 0 0 53 17 32.1 41 21 51.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.204779497 1.102389749 2 3.088346964 1.198155385 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 2.08E-26 1 1.17E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 135444255 G T - - - - - - 29 0 0 39 6 15.4 51 13 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.057744681 1.057744681 1 1.538141554 1.538141554 1 NA NA 1 NA NA 0 5 NA 1 1 4.43E-08 1 4.87E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 135445001 G T - - - - - - 42 0 0 44 7 15.9 60 9 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.092087041 1.092087041 1 0.90478915 0.90478915 1 NA NA 1 NA NA 0 5 NA 1 1 2.55E-09 1 2.29E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 135936771 A T - - - - - - 27 0 0 42 23 54.8 43 19 44.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 3.763922631 1.254640877 3 2.666112028 1.034345078 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 4.86E-42 1 1.36E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 135950899 A G - - - - - - 29 0 0 48 22 45.8 35 18 51.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 3.145760155 1.048586718 3 3.100410819 1.202835679 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 5.76E-38 1 1.6E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 136120863 G C STAG1 CCDS3090.1 r.? - - intronic 40 0 0 61 16 26.2 53 5 9.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.799539652 0.899769826 2 0.5670012 0.5670012 1 NA NA 1 NA NA 0 5 NA 1 1 2.5E-23 1 0.00000734 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 136173832 G C STAG1 CCDS3090.1 r.? - - intronic 42 0 0 46 18 39.1 55 28 50.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.685572534 0.895190845 3 3.070251181 1.191134943 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 9.41E-30 1 1.25E-49 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 136392128 A G STAG1 CCDS3090.1 r.? - - intronic 30 0 0 48 11 22.9 53 11 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.572880077 1.572880077 1 1.254640954 1.254640954 1 NA NA 1 NA NA 0 5 NA 1 1 9.31E-16 1 3.07E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 136923576 T A - - - - - - 37 0 0 45 6 13.3 54 9 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 0.91350677 0.91350677 1 1.00733192 1.00733192 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000108 1 8.48E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 136953113 G A - - - - - - 28 0 0 41 17 41.5 43 15 34.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.850415861 0.95013862 3 2.105142755 1.052571377 2 NA NA 1 NA NA 0 5 NA 1 1 1.03E-28 1 4.05E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 137363228 A C - - - - - - 19 0 0 38 10 26.3 45 24 53.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.806408124 0.903204062 2 3.215017445 1.247298477 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 4.06E-15 1 2.03E-43 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 137369162 C T - - - - - - 37 0 0 47 14 29.8 51 21 41.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.046804642 1.023402321 2 2.485154198 0.964140661 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 1.79E-21 1 4.73E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 137414304 C A - - - - - - 31 0 0 54 13 24.1 52 12 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.655301741 0.82765087 2 1.39337529 1.39337529 1 NA NA 1 NA NA 0 5 NA 1 1 1.12E-18 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 137418473 G T - - - - - - 27 0 0 36 6 16.7 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.147034816 1.147034816 1 1.36924758 1.36924758 1 NA NA 1 NA NA 0 5 NA 1 1 2.68E-08 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 137583731 T C - - - - - - 29 0 0 66 39 59.1 69 38 55.1 144 0 0 97 55 56.7 2121 2091 98.6 TRUE TRUE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 4.059266925 1.353088975 3 3.323592143 1.289421127 2.57758468 3.894423598 1.298141199 3 5.947480677 2.307385175 2.57758468 5 4 1 1 3.91E-72 1.22E-99 1.24E-68 0 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 3 137583850 T C - - - - - - 37 0 0 64 21 32.8 69 14 20.3 42 0 0 46 15 32.6 858 167 19.5 TRUE TRUE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.252858801 1.1264294 2 1.224481316 1.224481316 1 2.239121857 1.119560928 2 1.176225895 1.176225895 1 5 4 1 1 1.6E-32 1.35E-23 7.3E-19 2.68E-204 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 3 137685624 G C - - - - - - 48 0 0 39 6 15.4 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.057744681 1.057744681 1 0.814310235 0.814310235 1 NA NA 1 NA NA 0 5 NA 1 1 4.43E-08 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 137719982 A G CLDN18 CCDS33862.1 r.? - - intronic 35 0 0 57 12 21.1 65 10 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.449247582 1.449247582 1 0.92891686 0.92891686 1 NA NA 1 NA NA 0 5 NA 1 1 1.4E-16 1 1.36E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 137772222 A C - - - - - - 29 0 0 48 14 29.2 49 12 24.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.00559381 1.002796905 2 1.477822278 1.477822278 1 NA NA 1 NA NA 0 5 NA 1 1 2.51E-21 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 137831156 G A DZIP1L CCDS3096.1 r.? - - intronic 42 0 0 42 7 16.7 67 14 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.147034816 1.147034816 1 1.260672882 1.260672882 1 NA NA 1 NA NA 0 5 NA 1 1 1.81E-09 1 4.66E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 138390639 T C PIK3CB CCDS3104.1 r.? - - intronic 26 0 0 54 23 42.6 41 15 36.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.925969052 0.975323017 3 2.207685525 1.103842763 2 NA NA 1 NA NA 0 5 NA 1 1 1.12E-38 1 1.71E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 138417036 C G PIK3CB CCDS3104.1 r.? - - intronic 39 0 0 43 15 34.9 54 30 55.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.397096712 1.198548356 2 3.353751781 1.301121863 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 4.05E-24 1 1.16E-54 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 138886020 G T MRPS22 CCDS3107.1 r.? - - intronic 36 0 0 54 10 18.5 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.270667311 1.270667311 1 1.308928303 1.308928303 1 NA NA 1 NA NA 0 5 NA 1 1 1.91E-13 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 138923558 G C MRPS22 CCDS3107.1 r.? - - intronic 35 0 0 47 10 21.3 48 7 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.462984526 1.462984526 1 0.880661439 0.880661439 1 NA NA 1 NA NA 0 5 NA 1 1 4.27E-14 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 139008024 A G MRPS22 CCDS3107.1 r.? - - intronic 40 0 0 44 11 25 55 11 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.717117988 0.858558994 2 1.206385533 1.206385533 1 NA NA 1 NA NA 0 5 NA 1 1 3.22E-16 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 139061660 A T MRPS22 CCDS3107.1 r.? - - intronic 34 0 0 51 22 43.1 60 25 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.960311412 0.986770471 3 2.515313836 0.975841397 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 3.24E-37 1 1.31E-41 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 139537416 G T - - - - - - 17 0 0 42 16 38.1 49 14 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.616887814 0.872295938 3 1.725131312 1.093526917 1.57758468 NA NA 1 NA NA 0 5 NA 1 1 2.25E-26 1 3.5E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 139574153 T A - - - - - - 38 0 0 43 13 30.2 49 7 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.07427853 1.037139265 2 0.862565656 0.862565656 1 NA NA 1 NA NA 0 5 NA 1 1 3.88E-20 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 139763884 C G CLSTN2 CCDS3112.1 r.? - - intronic 33 0 0 38 7 18.4 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.263798839 1.263798839 1 1.869897576 0.934948788 2 NA NA 1 NA NA 0 5 NA 1 1 8.61E-10 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 139785141 T A CLSTN2 CCDS3112.1 r.? - - intronic 21 0 0 50 5 10 56 2 3.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 0.686847195 0.686847195 1 0.217149396 0.375961142 0.57758468 NA NA 1 NA NA 0 5 NA 1 1 0.00000549 1 0.032213353 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 139925904 G A CLSTN2 CCDS3112.1 r.? - - intronic 36 0 0 46 18 39.1 46 22 47.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.685572534 0.895190845 3 2.883261424 1.118590379 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 9.41E-30 1 1.68E-38 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 139972073 G C CLSTN2 CCDS3112.1 r.? - - intronic 43 0 0 44 16 36.4 50 20 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.500123791 0.833374597 3 2.412771066 0.936058894 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 5.57E-26 1 3.9E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 140495031 C G - - - - - - 42 0 0 50 9 18 49 9 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.236324952 1.236324952 1 1.10987469 1.10987469 1 NA NA 1 NA NA 0 5 NA 1 1 4.07E-12 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 140511200 C T - - - - - - 25 0 0 35 13 37.1 64 33 51.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.548203095 0.849401032 3 3.112474675 1.207515974 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 1.63E-21 1 1.78E-58 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 140514029 C A - - - - - - 33 0 0 50 9 18 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.236324952 1.236324952 1 1.538141554 1.538141554 1 NA NA 1 NA NA 0 5 NA 1 1 4.07E-12 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 141038141 C A ZBTB38 ENST00000509842 r.? - - upstream 29 0 0 54 14 25.9 59 25 42.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.778934236 0.889467118 2 2.55753733 0.992222428 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 1.64E-20 1 7.66E-42 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 141359376 G C - - - - - - 30 0 0 45 8 17.8 48 7 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.222588008 1.222588008 1 0.880661439 0.880661439 1 NA NA 1 NA NA 0 5 NA 1 1 7.14E-11 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 141594526 G C ATP1B3 CCDS3121.1 r.? - - upstream 22 0 0 54 7 13 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 0.892901354 0.892901354 1 1.049555414 1.049555414 1 NA NA 1 NA NA 0 5 NA 1 1 1.13E-08 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 141944473 C A GK5 ENST00000392993 r.? - - upstream 23 0 0 32 11 34.4 8 1 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.362754352 1.181377176 2 0.753990958 0.753990958 1 NA NA 1 NA NA 0 5 NA 1 1 5.72E-18 1 0.039306956 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 142620178 G A - - - - - - 45 0 0 54 21 38.9 49 18 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.67183559 0.890611863 3 2.213717453 1.106858726 2 NA NA 1 NA NA 0 5 NA 1 1 2.12E-34 1 3.8E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 142634644 G C - - - - - - 28 0 0 51 7 13.7 54 9 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 0.940980658 0.940980658 1 1.00733192 1.00733192 1 NA NA 1 NA NA 0 5 NA 1 1 7.46E-09 1 8.48E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 142830022 A T - - - - - - 33 0 0 45 11 24.4 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.675907157 0.837953578 2 1.236545171 1.236545171 1 NA NA 1 NA NA 0 5 NA 1 1 4.24E-16 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 143027051 A T SLC9A9 CCDS33872.1 r.? - - intronic 34 0 0 61 17 27.9 52 10 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.916303675 0.958151838 2 1.158130112 1.158130112 1 NA NA 1 NA NA 0 5 NA 1 1 3.33E-25 1 1.28E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 143258305 A G SLC9A9 CCDS33872.1 r.? - - intronic 48 0 0 45 10 22.2 33 2 6.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.524800774 1.524800774 1 0.367947588 0.367947588 1 NA NA 1 NA NA 0 5 NA 1 1 2.66E-14 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 143273814 C T SLC9A9 CCDS33872.1 r.? - - intronic 38 0 0 44 12 27.3 53 29 54.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.875092843 0.937546422 2 3.299464432 1.280060538 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 4.44E-18 1 1.29E-52 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 143515018 G A SLC9A9 CCDS33872.1 r.? - - intronic 40 0 0 56 15 26.8 50 20 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.840750484 0.920375242 2 2.412771066 0.936058894 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 4.09E-22 1 3.9E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 143570562 C T SLC9A9 CCDS33872.1 r.? - - upstream 27 0 0 42 11 26.2 61 8 13.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.799539652 0.899769826 2 0.790182524 0.790182524 1 NA NA 1 NA NA 0 5 NA 1 1 1.81E-16 1 9.09E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 143608464 G C - - - - - - 20 0 0 45 11 24.4 44 5 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.675907157 0.837953578 2 0.687639754 0.687639754 1 NA NA 1 NA NA 0 5 NA 1 1 4.24E-16 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 143988040 A T - - - - - - 31 0 0 40 7 17.5 57 11 19.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.201982592 1.201982592 1 1.164162039 1.164162039 1 NA NA 1 NA NA 0 5 NA 1 1 1.26E-09 1 7.29E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 144246026 T A - - - - - - 36 0 0 43 19 44.2 55 23 41.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 3.035864603 1.011954868 3 2.521345764 0.978181545 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 1.36E-32 1 1.91E-38 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 144356586 A G - - - - - - 47 0 0 36 7 19.4 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.332483559 1.332483559 1 1.08574698 1.08574698 1 NA NA 1 NA NA 0 5 NA 1 1 5.74E-10 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 144371491 T C - - - - - - 29 0 0 43 9 20.9 51 11 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.435510638 1.435510638 1 1.302896375 1.302896375 1 NA NA 1 NA NA 0 5 NA 1 1 9.45E-13 1 1.94E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 144714940 A G - - - - - - 37 0 0 50 7 14 53 9 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 0.961586074 0.961586074 1 1.025427703 1.025427703 1 NA NA 1 NA NA 0 5 NA 1 1 6.46E-09 1 7.1E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 144948175 A C - - - - - - 48 0 0 42 12 28.6 53 22 41.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.964382979 0.982191489 2 2.503249981 0.971161103 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 2.35E-18 1 9.5E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 144949542 C A - - - - - - 46 0 0 47 18 38.3 54 25 46.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.630624758 0.876874919 3 2.792782509 1.08348817 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 1.52E-29 1 4.36E-43 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 145131322 A G - - - - - - 36 0 0 54 9 16.7 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.147034816 1.147034816 1 0.802246379 0.802246379 1 NA NA 1 NA NA 0 5 NA 1 1 8.48E-12 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 145135342 G A - - - - - - 51 0 0 44 13 29.5 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.026199226 1.013099613 2 1.031459631 1.031459631 1 NA NA 1 NA NA 0 5 NA 1 1 5.49E-20 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 145337430 T C - - - - - - 38 0 0 55 19 34.5 60 28 46.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.369622824 1.184811412 2 2.816910219 1.092848759 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 4.51E-30 1 3.31E-48 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 145463225 C T - - - - - - 39 0 0 53 9 17 47 7 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.167640232 1.167640232 1 0.898757222 0.898757222 1 NA NA 1 NA NA 0 5 NA 1 1 7.1E-12 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 146019968 A G - - - - - - 31 0 0 61 13 21.3 52 11 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.462984526 1.462984526 1 1.278768665 1.278768665 1 NA NA 1 NA NA 0 5 NA 1 1 6.41E-18 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 146443877 G A - - - - - - 40 0 0 51 18 35.3 73 41 56.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.4245706 0.8081902 3 3.389943347 1.315162747 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 9.1E-29 1 1.97E-74 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 146572342 G C - - - - - - 24 0 0 47 15 31.9 38 17 44.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 2.191042553 1.095521277 2 2.696271666 1.046045815 2.57758468 NA NA 1 NA NA 0 5 NA 1 1 1.97E-23 1 1.99E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 146645291 G A - - - - - - 31 0 0 42 7 16.7 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.147034816 1.147034816 1 1.29083252 1.29083252 1 NA NA 1 NA NA 0 5 NA 1 1 1.81E-09 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 146676184 C T - - - - - - 36 0 0 42 11 26.2 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 1.799539652 0.899769826 2 1.429566856 1.429566856 1 NA NA 1 NA NA 0 5 NA 1 1 1.81E-16 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 147266368 T C - - - - - - 38 0 0 49 18 36.7 38 15 39.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.520729207 0.840243069 3 2.944465479 0.981488493 3 NA NA 1 NA NA 1 5 NA 1 1 3.8E-29 1 4.24E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 147300736 A C - - - - - - 36 0 0 49 7 14.3 45 14 31.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.982191489 0.982191489 1 2.318300668 1.159150334 2 NA NA 1 NA NA 1 5 NA 1 1 5.58E-09 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 147325356 A C - - - - - - 37 0 0 47 14 29.8 50 15 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.046804642 1.023402321 2 2.236302895 1.118151448 2 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 5.83E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 147333266 G A - - - - - - 34 0 0 39 17 43.6 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.994653772 0.998217924 3 2.131942094 1.065971047 2 NA NA 1 NA NA 1 5 NA 1 1 3.51E-29 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 147749218 A G - - - - - - 44 0 0 61 15 24.6 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.689644101 0.84482205 2 1.453596882 1.453596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.73E-21 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 147842102 G T - - - - - - 39 0 0 29 7 24.1 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.655301741 1.655301741 1 1.908311804 0.954155902 2 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 147881468 T G - - - - - - 28 0 0 53 11 20.8 50 10 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.428642166 1.428642166 1 1.490868597 1.490868597 1 NA NA 1 NA NA 1 5 NA 1 1 3.07E-15 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 148156075 A T - - - - - - 38 0 0 44 9 20.5 42 18 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.40803675 1.40803675 1 3.19791314 1.065971047 3 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 1.2E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 148167079 C A - - - - - - 35 0 0 47 15 31.9 49 19 38.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.191042553 1.095521277 2 2.892285078 0.964095026 3 NA NA 1 NA NA 1 5 NA 1 1 1.97E-23 1 3.12E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 148376984 C G - - - - - - 32 0 0 41 23 56.1 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 3.853212766 1.284404255 3 1.863585746 0.931792873 2 NA NA 1 NA NA 1 5 NA 1 1 2.21E-42 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 148454310 A G AGTR1 CCDS3137.1 r.? - - intronic 41 0 0 70 17 24.3 64 11 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.669038685 0.834519342 2 1.282146993 1.282146993 1 NA NA 1 NA NA 1 5 NA 1 1 4.68E-24 1 2.85E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 148469923 T A - - - - - - 36 0 0 45 9 20 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.373694391 1.373694391 1 1.692135857 1.692135857 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-12 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 148884374 A C HPS3 CCDS3140.1 r.? - - intronic 35 0 0 56 14 25 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.717117988 0.858558994 2 2.102124722 1.051062361 2 NA NA 1 NA NA 1 5 NA 1 1 2.91E-20 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 149033301 C G TM4SF18 CCDS3142.1 r.? - - downstream 27 0 0 37 7 18.9 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.298141199 1.298141199 1 1.244875278 1.244875278 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 149253158 G C WWTR1 CCDS3144.1 r.? - - intronic 29 0 0 42 10 23.8 36 6 16.7 1 0 0 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.634696325 1.634696325 1 1.244875278 1.244875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 149515213 A G C3orf16 ENST00000446160 r.? - - upstream 26 0 0 55 11 20 50 11 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.373694391 1.373694391 1 1.639955457 1.639955457 1 NA NA 1 NA NA 1 5 NA 1 1 4.77E-15 1 1.52E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 149530911 A G RNF13 CCDS3146.1 r.355a>g c.? p.? 5'UTR variant 33 0 0 56 14 25 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.717117988 0.858558994 2 1.990309577 0.995154788 2 NA NA 1 NA NA 1 5 NA 1 1 2.91E-20 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 149770505 T C PFN2 ENST00000497148 r.? - - upstream 48 0 0 53 18 34 50 15 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.335280464 1.167640232 2 2.236302895 1.118151448 2 NA NA 1 NA NA 1 5 NA 1 1 2.09E-28 1 5.83E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 149855826 A T - - - - - - 29 0 0 58 13 22.4 47 11 23.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.538537718 1.538537718 1 1.744316258 0.872158129 2 NA NA 1 NA NA 1 5 NA 1 1 3.12E-18 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 150104358 G A - - - - - - 33 0 0 44 7 15.9 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.092087041 1.092087041 1 1.177786192 1.177786192 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 150293500 C G EIF2A CCDS46935.1 r.1557c>g c.1448C>G p.T483R missense 39 0 0 75 28 37.3 63 12 19 160 0 0 278 65 23.4 174 17 9.8 TRUE TRUE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.561940039 0.853980013 3 1.416325167 1.416325167 1 1.607222437 0.803611219 2 0.730525612 0.730525612 1 5 6 1 1 9.34E-45 2.45E-86 5.15E-16 5.59E-17 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 3 150371023 A G - - - - - - 23 0 0 79 13 16.5 73 12 16.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.133297872 1.133297872 1 1.222512249 1.222512249 1 NA NA 1 NA NA 1 5 NA 1 1 2.37E-16 1 3.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 150404292 C T FAM194A CCDS3151.2 r.? - - intronic 41 0 0 64 18 28.1 69 25 36.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.930040619 0.965020309 2 2.69847216 0.89949072 3 NA NA 1 NA NA 1 5 NA 1 1 1.1E-26 1 1E-39 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 150469749 C G SIAH2 CCDS3152.1 r.? - - intronic 22 0 0 72 25 34.7 63 23 36.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.383359768 1.191679884 2 2.720835189 0.906945063 3 NA NA 1 NA NA 1 5 NA 1 1 3.63E-39 1 9.25E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 150712629 G A - - - - - - 29 0 0 67 20 29.9 44 16 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.053673114 1.026836557 2 2.713380846 0.904460282 3 NA NA 1 NA NA 1 5 NA 1 1 4.42E-30 1 5.57E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 150877637 C A MED12L CCDS33876.1 r.894c>a c.856C>A p.Q286K missense 30 0 0 75 14 18.7 51 12 23.5 254 0 0 323 92 28.5 246 32 13 TRUE TRUE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.284404255 1.284404255 1 1.751770601 0.875885301 2 1.957514507 0.978757253 2 0.969064588 0.969064588 1 5 6 1 1 2.57E-18 2.04E-130 3.24E-17 1.23E-34 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 3 150951739 C G MED12L CCDS33876.1 r.? - - intronic 41 0 0 67 16 23.9 48 13 27.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.641564797 0.820782398 2 2.020126949 1.010063474 2 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 2E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 150985088 A C MED12L CCDS33876.1 r.? - - intronic 47 0 0 64 16 25 72 23 31.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.717117988 0.858558994 2 2.377935412 1.188967706 2 NA NA 1 NA NA 1 5 NA 1 1 5.94E-23 1 3.67E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 151035005 C G MED12L CCDS33876.1 r.? - - intronic 35 0 0 67 15 22.4 47 4 8.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.538537718 0.769268859 2 0.633619154 0.633619154 1 NA NA 1 NA NA 1 5 NA 1 1 8.27E-21 1 0.0000939 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 151072326 A G MED12L CCDS33876.1 r.? - - intronic 24 0 0 63 18 28.6 59 17 28.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.964382979 0.982191489 2 2.14685078 1.07342539 2 NA NA 1 NA NA 1 5 NA 1 1 7.98E-27 1 1.74E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 151310991 T A - - - - - - 24 0 0 68 17 25 53 9 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.717117988 0.858558994 2 1.267238307 1.267238307 1 NA NA 1 NA NA 1 5 NA 1 1 2.69E-24 1 7.1E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 151576549 A G - - - - - - 42 0 0 69 13 18.8 64 20 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.291272727 1.291272727 1 2.325755011 1.162877506 2 NA NA 1 NA NA 1 5 NA 1 1 3.64E-17 1 1.52E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 151849358 A C - - - - - - 40 0 0 67 22 32.8 57 12 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.252858801 1.1264294 2 1.57286637 1.57286637 1 NA NA 1 NA NA 1 5 NA 1 1 5.21E-34 1 1.4E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 151854928 A G - - - - - - 23 0 0 76 23 30.3 59 17 28.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.081147002 1.040573501 2 2.14685078 1.07342539 2 NA NA 1 NA NA 1 5 NA 1 1 1.58E-34 1 1.74E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 151910320 A T - - - - - - 42 0 0 76 24 31.6 67 19 28.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.170437137 1.085218569 2 2.117033408 1.058516704 2 NA NA 1 NA NA 1 5 NA 1 1 1.75E-36 1 3.67E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 152123981 C T MBNL1 CCDS3165.1 r.? - - intronic 38 0 0 67 17 25.4 70 16 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.744591876 0.872295938 2 1.707044543 0.853522272 2 NA NA 1 NA NA 1 5 NA 1 1 2.03E-24 1 2.93E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 152140277 C A MBNL1 CCDS3165.1 r.? - - intronic 34 0 0 65 19 29.2 61 13 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.00559381 1.002796905 2 1.587775056 1.587775056 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-28 1 6.41E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 152305574 T A - - - - - - 36 0 0 58 19 32.8 54 20 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.252858801 1.1264294 2 2.758106904 0.919368968 3 NA NA 1 NA NA 1 5 NA 1 1 1.5E-29 1 2.61E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 152378574 C A - - - - - - 25 0 0 54 15 27.8 64 13 20.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.909435203 0.954717602 2 1.513231626 1.513231626 1 NA NA 1 NA NA 1 5 NA 1 1 2.2E-22 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 152402019 C T - - - - - - 34 0 0 67 9 13.4 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.920375242 0.920375242 1 1.692135857 1.692135857 1 NA NA 1 NA NA 1 5 NA 1 1 6.43E-11 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 152475787 A T - - - - - - 47 0 0 64 14 21.9 65 20 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.504195358 1.504195358 1 2.295937639 1.14796882 2 NA NA 1 NA NA 1 5 NA 1 1 2.31E-19 1 2.18E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 152499145 T C - - - - - - 43 0 0 68 7 10.3 61 9 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.707452611 0.707452611 1 1.103242762 1.103242762 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000058 1 2.68E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 152526537 C T - - - - - - 36 0 0 77 15 19.5 59 10 16.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.339352031 1.339352031 1 1.259783964 1.259783964 1 NA NA 1 NA NA 1 5 NA 1 1 8.05E-20 1 4.91E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 152799919 A T - - - - - - 42 0 0 75 28 37.3 55 20 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.561940039 0.853980013 3 2.713380846 0.904460282 3 NA NA 1 NA NA 1 5 NA 1 1 9.34E-45 1 4.08E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 152887558 A C RAP2B CCDS3170.1 r.? - - downstream 31 0 0 72 21 29.2 61 15 24.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.00559381 1.002796905 2 1.833768374 0.916884187 2 NA NA 1 NA NA 1 5 NA 1 1 2.89E-31 1 1.73E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 152910253 C G - - - - - - 34 0 0 62 24 38.7 50 12 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.658098646 0.886032882 3 1.789042316 0.894521158 2 NA NA 1 NA NA 1 5 NA 1 1 4.81E-39 1 2.49E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 152922255 G T - - - - - - 32 0 0 72 16 22.2 59 17 28.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.524800774 0.762400387 2 2.14685078 1.07342539 2 NA NA 1 NA NA 1 5 NA 1 1 4.82E-22 1 1.74E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 153090200 G A - - - - - - 32 0 0 79 24 30.4 60 16 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.088015474 1.044007737 2 1.990309577 0.995154788 2 NA NA 1 NA NA 1 5 NA 1 1 5.2E-36 1 1.86E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 153109074 A G - - - - - - 36 0 0 66 17 25.8 71 19 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.772065764 0.886032882 2 1.99776392 0.99888196 2 NA NA 1 NA NA 1 5 NA 1 1 1.52E-24 1 1.29E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 153659386 G T - - - - - - 21 0 0 49 5 10.2 62 8 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.700584139 0.700584139 1 0.961610245 0.961610245 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000496 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 153725187 C T - - - - - - 45 0 0 70 7 10 53 6 11.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.686847195 0.686847195 1 0.842340757 0.842340757 1 NA NA 1 NA NA 1 5 NA 1 1 7.11E-08 1 0.000000293 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 154079031 A T GPR149 CCDS43162.1 r.? - - intronic 51 0 0 62 14 22.6 59 9 15.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.552274662 1.552274662 1 1.140514477 1.140514477 1 NA NA 1 NA NA 1 5 NA 1 1 1.42E-19 1 1.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 154097710 G A GPR149 CCDS43162.1 r.? - - intronic 29 0 0 72 12 16.7 80 13 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.147034816 1.147034816 1 1.207603563 1.207603563 1 NA NA 1 NA NA 1 5 NA 1 1 2.84E-15 1 2.82E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 154451825 G A - - - - - - 18 0 0 52 15 28.8 54 10 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.978119923 0.989059961 2 1.379053452 1.379053452 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-22 1 1.91E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 154465666 T C - - - - - - 33 0 0 78 14 17.9 51 5 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.22945648 1.22945648 1 0.730525612 0.730525612 1 NA NA 1 NA NA 1 5 NA 1 1 4.63E-18 1 0.00000606 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 154599468 C A - - - - - - 46 0 0 67 12 17.9 61 10 16.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.22945648 1.22945648 1 1.222512249 1.222512249 1 NA NA 1 NA NA 1 5 NA 1 1 1.14E-15 1 6.98E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 154642837 A G - - - - - - 44 0 0 75 20 26.7 51 19 37.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.833882012 0.916941006 2 2.780469933 0.926823311 3 NA NA 1 NA NA 1 5 NA 1 1 5.89E-29 1 7.94E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 154707170 C T - - - - - - 35 0 0 65 8 12.3 52 8 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.84482205 0.84482205 1 1.14796882 1.14796882 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-09 1 2.42E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 154834693 T A MME CCDS3172.1 r.692u>a c.572T>A p.L191Q missense 39 0 0 53 10 18.9 65 4 6.2 87 0 0 95 11 11.6 257 70 27.2 TRUE TRUE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.298141199 1.298141199 1 0.462169265 0.462169265 1 0.796742747 0.796742747 1 2.027581292 1.013790646 2 5 4 1 1 1.57E-13 2.59E-12 0.000331785 4.32E-98 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 3 154848851 G C MME CCDS3172.1 r.? - - intronic 42 0 0 53 21 39.6 63 12 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.719914894 0.906638298 3 1.416325167 1.416325167 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-34 1 5.15E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 154869431 A G MME CCDS3172.1 r.? - - intronic 40 0 0 56 14 25 66 16 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.717117988 0.858558994 2 1.803951002 0.901975501 2 NA NA 1 NA NA 1 5 NA 1 1 2.91E-20 1 1.03E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 155016803 A G - - - - - - 43 0 0 80 24 30 60 16 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.060541586 1.030270793 2 1.990309577 0.995154788 2 NA NA 1 NA NA 1 5 NA 1 1 7.39E-36 1 1.86E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 155492170 T C C3orf33 ENST00000340171 r.? - - intronic 42 0 0 54 8 14.8 69 6 8.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.016533849 1.016533849 1 0.64852784 0.64852784 1 NA NA 1 NA NA 1 5 NA 1 1 3.31E-10 1 0.00000143 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 155505204 T C C3orf33 ENST00000340171 r.? - - intronic 29 0 0 62 17 27.4 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.881961315 0.940980658 2 1.781587973 0.890793987 2 NA NA 1 NA NA 1 5 NA 1 1 4.56E-25 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 155769663 G A KCNAB1 ENST00000472028 r.? - - intronic 15 0 0 63 18 28.6 15 5 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.964382979 0.982191489 2 2.482296214 0.827432071 3 NA NA 1 NA NA 1 5 NA 1 1 7.98E-27 1 0.000000009 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 156199974 A G KCNAB1 CCDS33882.1 r.? - - intronic 30 0 0 69 15 21.7 82 26 31.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.490458414 1.490458414 1 2.363026726 1.181513363 2 NA NA 1 NA NA 1 5 NA 1 1 1.34E-20 1 1.89E-39 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 156454413 A G - - - - - - 31 0 0 54 9 16.7 74 13 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.147034816 1.147034816 1 1.311964365 1.311964365 1 NA NA 1 NA NA 1 5 NA 1 1 8.48E-12 1 9.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 156529892 A G - - - - - - 39 0 0 83 16 19.3 70 12 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.325615087 1.325615087 1 1.27469265 1.27469265 1 NA NA 1 NA NA 1 5 NA 1 1 5.75E-21 1 1.99E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 156539148 C G LEKR1 CCDS33883.1 r.? - - upstream 33 0 0 73 23 31.5 52 13 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.163568665 1.081784333 2 1.863585746 0.931792873 2 NA NA 1 NA NA 1 5 NA 1 1 5.33E-35 1 6.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 156675770 A C LEKR1 CCDS33883.1 r.? - - intronic 40 0 0 78 12 15.4 65 11 16.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.057744681 1.057744681 1 1.259783964 1.259783964 1 NA NA 1 NA NA 1 5 NA 1 1 7.82E-15 1 3.41E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 156676302 C T LEKR1 CCDS33883.1 r.? - - intronic 36 0 0 67 17 25.4 66 13 19.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.744591876 0.872295938 2 1.468505568 1.468505568 1 NA NA 1 NA NA 1 5 NA 1 1 2.03E-24 1 1.95E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 156834782 C T - - - - - - 37 0 0 76 8 10.5 55 5 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.721189555 0.721189555 1 0.678345212 0.678345212 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-09 1 0.00000883 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 156977735 C G VEPH1 CCDS3179.1 r.3998g>c c.? p.? 3'UTR variant 28 0 0 83 5 6 65 1 1.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.412108317 0.412108317 1 0.111815145 0.111815145 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000656 1 0.278061424 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 157084328 A T VEPH1 CCDS3179.1 r.? - - intronic 22 0 0 64 20 31.2 63 17 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.14296325 1.071481625 2 2.012672606 1.006336303 2 NA NA 1 NA NA 1 5 NA 1 1 1.52E-30 1 6.22E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 157293471 C G C3orf55 CCDS46943.1 r.? - - intronic 39 0 0 60 24 40 32 14 43.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.747388781 0.91579626 3 3.265002227 1.088334076 3 NA NA 1 NA NA 1 5 NA 1 1 1.81E-39 1 2.65E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 157366771 T C C3orf55 ENST00000461040 r.? - - intronic 32 0 0 49 13 26.5 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.820145068 0.910072534 2 1.215057906 1.215057906 1 NA NA 1 NA NA 1 5 NA 1 1 2.71E-19 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 157366772 C A C3orf55 ENST00000461040 r.? - - intronic 33 0 0 49 13 26.5 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.820145068 0.910072534 2 1.215057906 1.215057906 1 NA NA 1 NA NA 1 5 NA 1 1 2.71E-19 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 157422699 T C - - - - - - 38 0 0 69 8 11.6 58 8 13.8 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.796742747 0.796742747 1 1.028699332 1.028699332 1 NA NA 1 0 0 1 5 NA 1 1 2.49E-09 1 5.99E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 157697743 A C - - - - - - 18 0 0 48 10 20.8 56 7 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.428642166 1.428642166 1 0.931792873 0.931792873 1 NA NA 1 NA NA 1 5 NA 1 1 5.37E-14 1 1.46E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 157795177 C T - - - - - - 33 0 0 39 8 20.5 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.40803675 1.40803675 1 1.818859688 0.909429844 2 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 157824652 C T SHOX2 CCDS33884.1 r.? - - upstream 21 0 0 34 10 29.4 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.019330754 1.009665377 2 2.154305122 1.077152561 2 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 158088064 A C RSRC1 CCDS3181.1 r.? - - intronic 42 0 0 45 8 17.8 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.222588008 1.222588008 1 1.490868597 1.490868597 1 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 158283025 C T - - - - - - 44 0 0 42 7 16.7 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.147034816 1.147034816 1 1.013790646 1.013790646 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 158433848 G A RARRES1 CCDS3184.1 r.? - - intronic 33 0 0 56 13 23.2 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.593485493 1.593485493 1 2.236302895 1.118151448 2 NA NA 1 NA NA 1 5 NA 1 1 1.89E-18 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 158726745 C G - - - - - - 39 0 0 43 6 14 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.961586074 0.961586074 1 0.954155902 0.954155902 1 NA NA 1 NA NA 1 5 NA 1 1 8.13E-08 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 158973945 G T IQCJ CCDS46947.1 r.? - - intronic 36 0 0 43 14 32.6 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.239121857 1.119560928 2 1.796496659 1.796496659 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 159059860 T C SCHIP1 CCDS3186.1 r.? - - intronic 20 0 0 42 8 19 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.305009671 1.305009671 1 1.088334076 1.088334076 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 159137600 A G SCHIP1 CCDS3186.1 r.? - - intronic 41 0 0 50 8 16 54 13 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.098955513 1.098955513 1 1.796496659 0.89824833 2 NA NA 1 NA NA 1 5 NA 1 1 1.74E-10 1 1.12E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 159398036 A T SCHIP1 CCDS3186.1 r.? - - intronic 32 0 0 44 16 36.4 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.500123791 0.833374597 3 1.960492205 0.980246102 2 NA NA 1 NA NA 1 5 NA 1 1 5.57E-26 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 159486188 C G SCHIP1 CCDS3186.1 r.? - - intronic 32 0 0 57 11 19.3 51 6 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.325615087 1.325615087 1 0.879612472 0.879612472 1 NA NA 1 NA NA 1 5 NA 1 1 7.29E-15 1 0.000000232 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 159614755 G A SCHIP1 CCDS3186.1 r.2233g>a c.? p.? 3'UTR variant 44 0 0 45 13 28.9 60 16 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.984988395 0.992494197 2 1.990309577 0.995154788 2 NA NA 1 NA NA 1 5 NA 1 1 7.68E-20 1 1.86E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 159656760 G T - - - - - - 27 0 0 56 17 30.4 52 13 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.088015474 1.044007737 2 1.863585746 0.931792873 2 NA NA 1 NA NA 1 5 NA 1 1 6.22E-26 1 6.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 159656761 A T - - - - - - 27 0 0 56 17 30.4 50 13 26 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.088015474 1.044007737 2 1.938129176 0.969064588 2 NA NA 1 NA NA 1 5 NA 1 1 6.22E-26 1 3.65E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 159840046 T C - - - - - - 26 0 0 40 7 17.5 51 13 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.201982592 1.201982592 1 1.900857461 0.950428731 2 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 4.87E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 159865537 A T - - - - - - 39 0 0 58 9 15.5 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.064613153 1.064613153 1 1.587775056 1.587775056 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 160204935 C T TRIM59 ENST00000468542 r.? - - upstream 38 0 0 53 8 15.1 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.037139265 1.037139265 1 1.133060134 1.133060134 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-10 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 160560335 A C PPM1L CCDS33886.1 r.? - - intronic 27 0 0 47 10 21.3 55 9 16.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.462984526 1.462984526 1 1.222512249 1.222512249 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 1.01E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 160829391 A T NMD3 ENST00000468606 r.? - - intronic 26 0 0 45 5 11.1 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.762400387 0.762400387 1 0.969064588 0.969064588 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000323 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 160866589 C T NMD3 ENST00000468606 r.? - - intronic 39 0 0 37 7 18.9 47 11 23.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.298141199 1.298141199 1 1.744316258 0.872158129 2 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 161042712 A G - - - - - - 32 0 0 50 7 14 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.961586074 0.961586074 1 1.617592428 1.617592428 1 NA NA 1 NA NA 1 5 NA 1 1 6.46E-09 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 161132825 T C - - - - - - 33 0 0 54 8 14.8 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.016533849 1.016533849 1 1.371599109 1.371599109 1 NA NA 1 NA NA 1 5 NA 1 1 3.31E-10 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 161171155 C G - - - - - - 28 0 0 49 13 26.5 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.820145068 0.910072534 2 1.453596882 1.453596882 1 NA NA 1 NA NA 1 5 NA 1 1 2.71E-19 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 161236075 A C - - - - - - 36 0 0 44 12 27.3 47 7 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.875092843 0.937546422 2 1.110697105 1.110697105 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 161236744 C T - - - - - - 44 0 0 47 19 40.4 40 15 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 2.774862669 0.924954223 3 2.795378619 0.931792873 3 NA NA 1 NA NA 1 5 NA 1 1 1.16E-31 1 1.09E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 161257346 A T - - - - - - 40 0 0 55 14 25.5 39 4 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.751460348 0.875730174 2 0.767797327 0.767797327 1 NA NA 1 NA NA 1 5 NA 1 1 2.19E-20 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 161476157 G C - - - - - - 40 0 0 40 7 17.5 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 1.201982592 1.201982592 1 1.610138085 1.610138085 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 161793979 C T - - - - - - 48 0 0 26 8 30.8 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 161804806 A G - - - - - - 39 0 0 31 8 25.8 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 162105053 A G - - - - - - 37 0 0 40 9 22.5 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.670378619 1.670378619 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 162420983 G A - - - - - - 30 0 0 37 15 40.5 11 1 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.566731141 1.566731141 1 0.405345212 0.405345212 1 NA NA 1 NA NA 1 5 NA 1 1 2.58E-25 1 0.05364542 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 162614431 A T - - - - - - 35 0 0 38 5 13.2 37 4 10.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.510638298 0.510638298 1 0.481069042 0.481069042 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000137 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 162714082 C T - - - - - - 37 0 0 40 16 40 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.547388781 1.547388781 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 8.56E-27 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 162745175 T A - - - - - - 37 0 0 46 15 32.6 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-23 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 162880660 T A - - - - - - 29 0 0 39 10 25.6 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 162938070 T A - - - - - - 29 0 0 28 6 21.4 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 163133589 A C - - - - - - 37 0 0 33 10 30.3 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 1.300668151 1.300668151 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 163573186 C T - - - - - - 32 0 0 46 12 26.1 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.00967118 1.00967118 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 163847162 C A - - - - - - 33 0 0 36 13 36.1 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.396518375 1.396518375 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.53E-21 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 163880299 A T - - - - - - 39 0 0 36 12 33.3 51 12 23.5 0 0 NA 1 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.046770601 1.046770601 1 0 0 1 NA NA 1 5 NA 1 1 2.73E-19 1 3.24E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 164014738 C A - - - - - - 38 0 0 37 11 29.7 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.14893617 1.14893617 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 164197917 A C - - - - - - 34 0 0 28 7 25 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.398663697 1.398663697 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 164357625 A T - - - - - - 25 0 0 34 9 26.5 15 5 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 0.000000009 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 164450292 A C - - - - - - 35 0 0 40 13 32.5 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 164834659 A C - - - - - - 42 0 0 36 5 13.9 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.537717602 0.537717602 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000104 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 165002471 G A - - - - - - 47 0 0 38 7 18.4 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 165278586 C A - - - - - - 42 0 0 34 6 17.6 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-08 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 165339427 T A - - - - - - 39 0 0 38 7 18.4 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 165345860 T A - - - - - - 31 0 0 39 9 23.1 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 165431104 C T - - - - - - 27 0 0 32 9 28.1 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 1.670378619 1.670378619 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 165507606 C G BCHE CCDS3198.1 r.? - - intronic 40 0 0 26 5 19.2 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.742746615 0.742746615 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000188 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 165685758 A T - - - - - - 31 0 0 38 13 34.2 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 0.828507795 0.828507795 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 165833746 G A - - - - - - 35 0 0 29 8 27.6 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 165976243 C T - - - - - - 22 0 0 31 10 32.3 25 2 8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 0.356347439 0.356347439 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 166152947 C A - - - - - - 37 0 0 44 12 27.3 29 8 27.6 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.229398664 1.229398664 1 NA NA 1 0 0 1 5 NA 1 1 4.44E-18 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 166172586 T A - - - - - - 47 0 0 55 12 21.8 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.843326886 0.843326886 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 8.78E-17 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 166241452 A T - - - - - - 31 0 0 50 17 34 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.315280464 1.315280464 1 0.650334076 0.650334076 1 NA NA 1 NA NA 1 5 NA 1 1 6.43E-27 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 166422907 C G - - - - - - 26 0 0 41 16 39 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.508704062 1.508704062 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.4E-26 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 166513791 A G - - - - - - 39 0 0 30 7 23.3 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 166720709 T C - - - - - - 43 0 0 34 8 23.5 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 166796262 A G - - - - - - 31 0 0 38 12 31.6 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 167081305 C A ZBBX CCDS3199.2 r.? - - intronic 29 0 0 40 11 27.5 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 167185536 C T SERPINI2 CCDS3200.1 r.? - - intronic 32 0 0 44 16 36.4 40 8 20 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.408123791 1.408123791 1 0.890868597 0.890868597 1 NA NA 1 0 0 1 5 NA 1 1 5.57E-26 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 167461544 A T SERPINI1 CCDS3203.1 r.? - - intronic 52 0 0 36 9 25 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 167954627 C T - - - - - - 36 0 0 46 12 26.1 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.00967118 1.00967118 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 168113910 T C - - - - - - 38 0 0 42 9 21.4 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 168128756 G T - - - - - - 32 0 0 45 11 24.4 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-16 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 168280295 A G - - - - - - 37 0 0 32 5 15.6 33 3 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 0.405345212 0.405345212 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000562 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 168532334 T G - - - - - - 34 0 0 46 16 34.8 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.34622824 1.34622824 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.31E-25 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 169037415 C A MECOM ENST00000494292 r.? - - intronic 44 0 0 37 10 27 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 169050582 T C MECOM ENST00000494292 r.? - - intronic 39 0 0 52 12 23.1 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 4.19E-17 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 169076893 C A MECOM ENST00000494292 r.? - - intronic 47 0 0 32 6 18.8 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 0.775055679 0.775055679 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 169122230 A G MECOM ENST00000494292 r.? - - intronic 32 0 0 41 11 26.8 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 170298315 A C SLC7A14 CCDS33892.1 r.? - - intronic 42 0 0 30 8 26.7 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 170310217 C A CLDN11 ENST00000486975 r.? - - intronic 34 1 2.9 31 9 29 25 9 36 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 1.603563474 1.603563474 1 NA NA 1 NA NA 1 5 NA 0.156694864 1 3.57E-14 1 3.71E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 170492759 C G CLDN11 ENST00000486975 r.? - - intronic 41 0 0 34 10 29.4 25 9 36 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 1.603563474 1.603563474 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 3.71E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 170501330 A G CLDN11 ENST00000486975 r.? - - intronic 44 0 0 54 11 20.4 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.789168279 0.789168279 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 3.84E-15 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 170647931 C G - - - - - - 36 0 0 48 15 31.2 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 2.86E-23 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 170722771 G T SLC2A2 CCDS3215.1 r.? - - intronic 39 0 0 46 14 30.4 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.176015474 1.176015474 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-21 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 171287913 T C - - - - - - 44 0 0 43 12 27.9 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 171713398 A G - - - - - - 26 0 0 40 13 32.5 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 171713621 A T - - - - - - 28 0 0 49 19 38.8 43 13 30.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.500967118 1.500967118 1 1.345211581 1.345211581 1 NA NA 1 NA NA 1 5 NA 1 1 3.12E-31 1 3.88E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 171725009 C A - - - - - - 25 0 0 33 8 24.2 51 9 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 171765628 A G FNDC3B CCDS3217.1 r.? - - intronic 35 0 0 32 9 28.1 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 172101589 G C FNDC3B CCDS3217.1 r.? - - intronic 51 0 0 47 15 31.9 34 2 5.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.234042553 1.234042553 1 0.262806236 0.262806236 1 NA NA 1 NA NA 1 5 NA 1 1 1.97E-23 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 172216846 T G - - - - - - 46 0 0 38 12 31.6 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 172351589 C G NCEH1 CCDS33893.1 r.1137g>c c.999G>C p.K333N missense 37 0 0 36 7 19.4 33 6 18.2 189 0 0 142 42 29.6 18 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.810690423 0.810690423 1 1.145067698 1.145067698 1 0 0 1 5 5 1 1 5.74E-10 2.86E-61 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 172390106 T G NCEH1 CCDS33893.1 r.? - - intronic 35 0 0 24 10 41.7 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.613152805 1.613152805 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 1.8E-17 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 172407367 G A NCEH1 CCDS33893.1 r.? - - intronic 22 0 0 34 13 38.2 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.477756286 1.477756286 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 172586342 C A - - - - - - 22 0 0 38 7 18.4 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 1.581291759 1.581291759 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 173061059 C A - - - - - - 40 0 0 40 11 27.5 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 173365497 T C NLGN1 CCDS3222.1 r.? - - intronic 43 0 0 58 11 19 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.735009671 0.735009671 1 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 8.96E-15 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 173655753 A C NLGN1 CCDS3222.1 r.? - - intronic 36 0 0 43 9 20.9 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.808510638 0.808510638 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 174188029 T A NAALADL2 ENST00000434257 r.? - - intronic 44 0 0 36 7 19.4 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 174245265 C T NAALADL2 ENST00000434257 r.? - - intronic 30 0 0 34 10 29.4 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 174373986 C A NAALADL2 ENST00000434257 r.? - - intronic 39 0 0 40 11 27.5 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 174406771 G T NAALADL2 ENST00000434257 r.? - - intronic 43 0 0 43 10 23.3 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 174428916 A C NAALADL2 ENST00000434257 r.? - - intronic 44 0 0 43 13 30.2 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.16827853 1.16827853 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-20 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 174950247 G C NAALADL2 CCDS46960.1 r.? - - intronic 30 0 0 41 12 29.3 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 175885538 T A - - - - - - 30 0 0 41 15 36.6 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.415860735 1.415860735 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 1.71E-24 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 176078954 G A - - - - - - 41 0 0 42 14 33.3 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-22 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 176597006 T C - - - - - - 31 0 0 45 7 15.6 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000003 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 176834269 T A TBL1XR1 CCDS46961.1 r.? - - intronic 34 0 0 42 7 16.7 54 10 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.813034816 0.813034816 1 1.009053452 1.009053452 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 1.91E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 176876515 G C TBL1XR1 CCDS46961.1 r.? - - intronic 25 0 0 42 8 19 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.925009671 0.925009671 1 0.779971047 0.779971047 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 177259324 G T - - - - - - 38 0 0 55 12 21.8 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.061326886 1.061326886 1 1.058142539 1.058142539 1 NA NA 1 NA NA 1 5 NA 1 1 8.78E-17 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 177412743 T C - - - - - - 26 0 0 64 14 21.9 58 10 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.066195358 1.066195358 1 0.938146993 0.938146993 1 NA NA 1 NA NA 1 5 NA 1 1 2.31E-19 1 4.1E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 178285602 C G KCNMB2 CCDS3223.1 r.? - - intronic 32 0 0 57 8 14 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.681586074 0.681586074 1 1.15086637 1.15086637 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-10 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 178316739 G T KCNMB2 CCDS3223.1 r.? - - intronic 39 0 0 49 9 18.4 52 6 11.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.895798839 0.895798839 1 0.627249443 0.627249443 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-12 1 0.000000261 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 178509183 G A KCNMB2 CCDS3223.1 r.? - - intronic 45 0 0 56 10 17.9 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.87145648 0.87145648 1 0.605432071 0.605432071 1 NA NA 1 NA NA 1 5 NA 1 1 2.82E-13 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 178886965 T A PIK3CA CCDS43171.1 r.? - - intronic 30 0 0 44 9 20.5 50 12 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.99803675 0.99803675 1 1.309042316 1.309042316 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 2.49E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 178887655 C G PIK3CA CCDS43171.1 r.? - - intronic 30 0 0 50 8 16 46 4 8.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.778955513 0.778955513 1 0.47452784 0.47452784 1 NA NA 1 NA NA 1 5 NA 1 1 1.74E-10 1 0.0000862 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 178989007 A G KCNMB3 CCDS3225.1 r.? - - upstream 28 0 0 58 6 10.3 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.501452611 0.501452611 1 0.796334076 0.796334076 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000506 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 179006836 G C - - - - - - 39 0 0 42 6 14.3 45 4 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 0.485436526 0.485436526 1 NA NA 1 NA NA 1 5 NA 1 1 7.02E-08 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 179169307 G C GNB4 CCDS3230.1 r.72c>g c.? p.? 5'UTR variant 30 0 0 28 8 28.6 0 0 NA 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.392382979 1.392382979 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 1.11E-12 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 179329529 C T NDUFB5 CCDS3234.1 r.? - - intronic 37 0 0 45 8 17.8 48 6 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.866588008 0.866588008 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 0.00000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 179333766 C A NDUFB5 CCDS3234.1 r.328-5c>a c.214-5C>A p.? splice region 37 0 0 42 9 21.4 54 11 20.4 148 0 0 118 29 24.6 68 15 22.1 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.041852998 1.041852998 1 1.112685969 1.112685969 1 1.197644101 1.197644101 1 1.2054098 1.2054098 1 5 4 1 1 7.51E-13 3.88E-40 3.84E-15 1.06E-20 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 3 179365875 C G USP13 CCDS3235.1 r.? - - upstream 30 0 0 54 6 11.1 55 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.540400387 0.540400387 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000329 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 179431572 C G USP13 CCDS3235.1 r.? - - intronic 36 0 0 50 14 28 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.363172147 1.363172147 1 0.758153675 0.758153675 1 NA NA 1 NA NA 1 5 NA 1 1 4.84E-21 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 179449233 T A USP13 CCDS3235.1 r.? - - intronic 29 0 0 58 11 19 49 9 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.925009671 0.925009671 1 1.003599109 1.003599109 1 NA NA 1 NA NA 1 5 NA 1 1 8.96E-15 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 179455796 G C USP13 CCDS3235.1 r.? - - intronic 33 0 0 62 11 17.7 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.861719536 0.861719536 1 0.801788419 0.801788419 1 NA NA 1 NA NA 1 5 NA 1 1 1.96E-14 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 179535508 T G PEX5L CCDS3236.1 r.? - - intronic 28 0 0 49 7 14.3 61 7 11.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 0.627249443 0.627249443 1 NA NA 1 NA NA 1 5 NA 1 1 5.58E-09 1 2.69E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 179695901 A T PEX5L CCDS3236.1 r.? - - intronic 39 0 0 53 7 13.2 47 13 27.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.642638298 0.642638298 1 1.510853007 1.510853007 1 NA NA 1 NA NA 1 5 NA 1 1 9.85E-09 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 179792528 G T - - - - - - 44 0 0 45 10 22.2 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.080800774 1.080800774 1 0.698155902 0.698155902 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 179908878 T A - - - - - - 25 0 0 49 11 22.4 53 14 26.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.090537718 1.090537718 1 1.439946548 1.439946548 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 1.22E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 180170475 T C - - - - - - 29 0 0 42 10 23.8 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.158696325 1.158696325 1 1.199955457 1.199955457 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 180194438 G T - - - - - - 41 0 0 65 13 20 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 0.927238307 0.927238307 1 NA NA 1 NA NA 1 5 NA 1 1 1.57E-17 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 180241940 G T - - - - - - 33 0 0 52 9 17.3 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.842245648 0.842245648 1 1.058142539 1.058142539 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-12 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 180417488 A C CCDC39 ENST00000273654 r.? - - intronic 37 0 0 46 15 32.6 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.587121857 0.793560928 2 0.949055679 0.949055679 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-23 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 180430624 C A CCDC39 ENST00000273654 r.? - - intronic 34 0 0 53 11 20.8 51 12 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.012642166 1.012642166 1 1.281770601 1.281770601 1 NA NA 1 NA NA 1 5 NA 1 1 3.07E-15 1 3.24E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 180495022 C A CCDC39 ENST00000471307 r.? - - intronic 40 0 0 63 15 23.8 48 9 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.158696325 1.158696325 1 1.025416481 1.025416481 1 NA NA 1 NA NA 1 5 NA 1 1 2.97E-21 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 180576081 G T CCDC39 ENST00000471307 r.? - - intronic 41 0 0 52 19 36.5 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.776992263 0.888496132 2 0.83996882 0.83996882 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-30 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 181090025 A G - - - - - - 37 0 0 47 7 14.9 51 8 15.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.725402321 0.725402321 1 0.856331849 0.856331849 1 NA NA 1 NA NA 1 5 NA 1 1 4.12E-09 1 2.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 181138437 G T - - - - - - 37 0 0 39 9 23.1 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.124617021 1.124617021 1 1.014507795 1.014507795 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 181397845 T C - - - - - - 31 0 0 45 5 11.1 37 10 27 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.540400387 0.540400387 1 1.472672606 1.472672606 1 NA NA 1 0 0 1 5 NA 1 1 0.00000323 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 181401177 G C - - - - - - 33 0 0 35 5 14.3 48 7 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 0.796334076 0.796334076 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 181464593 T A - - - - - - 43 0 0 56 6 10.7 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.520926499 0.520926499 1 1.014507795 1.014507795 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000409 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 181663422 G A - - - - - - 40 0 0 51 7 13.7 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.666980658 0.666980658 1 0.818151448 0.818151448 1 NA NA 1 NA NA 1 5 NA 1 1 7.46E-09 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 181688463 G C - - - - - - 29 0 0 46 7 15.2 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.740007737 0.740007737 1 1.003599109 1.003599109 1 NA NA 1 NA NA 1 5 NA 1 1 3.53E-09 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 181688757 A T - - - - - - 38 0 0 43 9 20.9 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.017510638 1.017510638 1 0.741790646 0.741790646 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 181952354 A T - - - - - - 49 0 0 52 11 21.2 50 10 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.032116054 1.032116054 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-15 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 182028390 C T - - - - - - 35 0 0 52 7 13.5 51 10 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.657243714 0.657243714 1 1.069051225 1.069051225 1 NA NA 1 NA NA 1 5 NA 1 1 8.58E-09 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 182226340 C A - - - - - - 35 0 0 32 7 21.9 41 4 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.066195358 1.066195358 1 0.534525612 0.534525612 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 182648867 C T - - - - - - 35 0 0 43 8 18.6 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.905535783 0.905535783 1 0.725427617 0.725427617 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 182686920 A T DCUN1D1 CCDS3240.1 r.? - - intronic 36 0 0 56 20 35.7 44 5 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.738044487 0.869022244 2 0.6217951 0.6217951 1 NA NA 1 NA NA 1 5 NA 1 1 6.31E-32 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 182789324 G A MCCC1 CCDS3241.1 r.? - - intronic 34 0 0 52 12 23.1 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.124617021 1.124617021 1 0.949055679 0.949055679 1 NA NA 1 NA NA 1 5 NA 1 1 4.19E-17 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 182857370 C G LAMP3 CCDS3242.1 r.? - - intronic 41 0 0 58 11 19 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.925009671 0.925009671 1 1.429037862 1.429037862 1 NA NA 1 NA NA 1 5 NA 1 1 8.96E-15 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 183606193 G A PARL CCDS3248.1 r.? - - upstream 21 0 0 36 14 38.9 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.89383559 0.946917795 2 0.954510022 0.954510022 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 183688165 G T ABCC5 CCDS43176.1 r.? - - intronic 25 0 0 36 12 33.3 35 14 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.621201161 0.81060058 2 2.181737194 1.090868597 2 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 1.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 184022779 G T PSMD2 CCDS3258.1 r.? - - intronic 24 0 0 34 16 47.1 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.29305029 1.146525145 2 1.914474388 0.957237194 2 NA NA 1 NA NA 1 5 NA 1 1 3.09E-28 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 184141110 A G EIF2B5 ENST00000444495 r.? - - intronic 37 0 0 43 13 30.2 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.47027853 1.47027853 1 0.829060134 0.829060134 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-20 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 184496747 T G - - - - - - 34 0 0 55 13 23.6 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.148959381 1.148959381 1 0.741790646 0.741790646 1 NA NA 1 NA NA 1 5 NA 1 1 1.46E-18 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 184760916 A G VPS8 CCDS46971.1 r.? - - intronic 32 0 0 43 5 11.6 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.564742747 0.564742747 1 1.259953229 1.259953229 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000257 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 184767448 G A VPS8 CCDS46971.1 r.? - - intronic 31 0 0 56 11 19.6 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 1.865385301 0.93269265 2 NA NA 1 NA NA 1 5 NA 1 1 5.91E-15 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 184797905 T C C3orf70 CCDS33900.1 r.3834a>g c.? p.? 3'UTR variant 34 0 0 58 12 20.7 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.007773694 1.007773694 1 1.156320713 1.156320713 1 NA NA 1 NA NA 1 5 NA 1 1 1.76E-16 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 184810383 G A C3orf70 CCDS33900.1 r.? - - intronic 44 0 0 52 13 25 37 3 8.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 0.441801782 0.441801782 1 NA NA 1 NA NA 1 5 NA 1 1 6.47E-19 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 185713616 G A - - - - - - 23 0 0 50 12 24 50 13 26 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.168433269 1.168433269 1 1.418129176 1.418129176 1 NA NA 1 NA NA 1 5 NA 1 1 2.49E-17 1 3.65E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 185740125 T C - - - - - - 33 0 0 61 12 19.7 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.959088975 0.959088975 1 0.954510022 0.954510022 1 NA NA 1 NA NA 1 5 NA 1 1 3.39E-16 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 185909755 G C DGKG CCDS3274.1 r.? - - intronic 39 0 0 55 14 25.5 63 10 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.241460348 1.241460348 1 0.867240535 0.867240535 1 NA NA 1 NA NA 1 5 NA 1 1 2.19E-20 1 9.81E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 186040320 T C DGKG CCDS3274.1 r.? - - intronic 26 0 0 59 14 23.7 45 5 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.153827853 1.153827853 1 0.605432071 0.605432071 1 NA NA 1 NA NA 1 5 NA 1 1 6.58E-20 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 186115448 A G - - - - - - 39 0 0 43 8 18.6 46 15 32.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.905535783 0.905535783 1 1.778115813 0.889057906 2 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 1.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 186136662 C T - - - - - - 30 0 0 45 13 28.9 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.406988395 1.406988395 1 1.063596882 1.063596882 1 NA NA 1 NA NA 1 5 NA 1 1 7.68E-20 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 186182812 T A - - - - - - 33 0 0 47 15 31.9 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.553042553 0.776521277 2 1.129048998 1.129048998 1 NA NA 1 NA NA 1 5 NA 1 1 1.97E-23 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 186200327 G A - - - - - - 28 0 0 46 21 45.7 46 5 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.224891683 1.112445841 2 0.594523385 0.594523385 1 NA NA 1 NA NA 1 5 NA 1 1 2.94E-36 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 186328768 A G AHSG CCDS3278.1 r.? - - upstream 43 0 0 50 13 26 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.265802708 1.265802708 1 1.036325167 1.036325167 1 NA NA 1 NA NA 1 5 NA 1 1 3.65E-19 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 186410837 A T - - - - - - 46 0 0 42 12 28.6 59 8 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.392382979 1.392382979 1 0.741790646 0.741790646 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 6.9E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 186873943 G A RPL39L CCDS3286.1 r.? - - intronic 36 0 0 47 14 29.8 59 12 20.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.450804642 1.450804642 1 1.107231626 1.107231626 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 2.2E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 186951966 A G MASP1 CCDS33908.1 r.3919u>c c.? p.? 3'UTR variant 38 0 0 39 11 28.2 55 13 23.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.372909091 1.372909091 1 1.287224944 1.287224944 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 1.46E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 186952327 C A MASP1 CCDS33908.1 r.3558g>u c.? p.? 3'UTR variant 28 0 0 44 10 22.7 60 7 11.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.105143133 1.105143133 1 0.638158129 0.638158129 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 2.39E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 187121137 G T - - - - - - 37 0 0 60 16 26.7 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.299882012 1.299882012 1 1.139957684 1.139957684 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-23 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 187240224 G T - - - - - - 28 0 0 56 13 23.2 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.129485493 1.129485493 1 1.139957684 1.139957684 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-18 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 187485469 A T - - - - - - 35 0 0 48 6 12.5 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.608558994 0.608558994 1 1.325405345 1.325405345 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000016 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 188142294 C G LPP CCDS3291.1 r.? - - intronic 29 0 0 44 9 20.5 59 10 16.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.99803675 0.99803675 1 0.921783964 0.921783964 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 4.91E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 188180171 T G LPP CCDS3291.1 r.? - - intronic 25 0 0 36 6 16.7 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.813034816 0.813034816 1 1.505398664 1.505398664 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 188471044 T A LPP CCDS3291.1 r.? - - intronic 47 0 0 53 7 13.2 49 14 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.642638298 0.642638298 1 1.559942094 0.779971047 2 NA NA 1 NA NA 1 5 NA 1 1 9.85E-09 1 3.5E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 188471045 G T LPP CCDS3291.1 r.? - - intronic 45 0 0 53 7 13.2 51 15 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.642638298 0.642638298 1 1.603576837 0.801788419 2 NA NA 1 NA NA 1 5 NA 1 1 9.85E-09 1 8.22E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 188511427 A T LPP CCDS3291.1 r.? - - intronic 32 0 0 49 7 14.3 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 0.959964365 0.959964365 1 NA NA 1 NA NA 1 5 NA 1 1 5.58E-09 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 188537391 G T LPP CCDS3291.1 r.? - - intronic 35 0 0 51 8 15.7 49 12 24.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.764350097 0.764350097 1 1.336314031 1.336314031 1 NA NA 1 NA NA 1 5 NA 1 1 2.05E-10 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 188548589 G A LPP CCDS3291.1 r.? - - intronic 27 0 0 56 8 14.3 47 4 8.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 0.463619154 0.463619154 1 NA NA 1 NA NA 1 5 NA 1 1 4.48E-10 1 0.0000939 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 188708622 A T TPRG1 CCDS3292.1 r.? - - intronic 36 0 0 58 10 17.2 52 8 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.837377176 0.837377176 1 0.83996882 0.83996882 1 NA NA 1 NA NA 1 5 NA 1 1 4.1E-13 1 2.42E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 188976734 C A TPRG1 CCDS3292.1 r.? - - intronic 23 0 0 52 7 13.5 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.657243714 0.657243714 1 1.003599109 1.003599109 1 NA NA 1 NA NA 1 5 NA 1 1 8.58E-09 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 189006115 G C TPRG1 CCDS3292.1 r.? - - intronic 53 0 0 54 9 16.7 70 19 27.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.813034816 0.813034816 1 1.478126949 0.739063474 2 NA NA 1 NA NA 1 5 NA 1 1 8.48E-12 1 9.5E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 189031540 G A TPRG1 CCDS3292.1 r.? - - intronic 37 0 0 50 9 18 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.876324952 0.876324952 1 1.167229399 1.167229399 1 NA NA 1 NA NA 1 5 NA 1 1 4.07E-12 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 189061657 T A - - - - - - 36 0 0 26 7 26.9 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.309618956 1.309618956 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 189886158 C G - - - - - - 32 0 0 56 13 23.2 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.129485493 1.129485493 1 0.872694878 0.872694878 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-18 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 190058860 C A - - - - - - 18 0 0 43 7 16.3 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.793560928 0.793560928 1 1.210864143 1.210864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.15E-09 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 190132291 C G CLDN16 CCDS3296.1 r.? - - downstream 27 0 0 49 11 22.4 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.090537718 1.090537718 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 190174709 C G - - - - - - 44 0 0 53 5 9.4 52 1 1.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.457636364 0.457636364 1 0.103632517 0.103632517 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000734 1 0.229451111 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 190237168 C T IL1RAP CCDS3298.1 r.? - - intronic 25 0 0 65 9 13.8 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.67184913 0.67184913 1 0.889057906 0.889057906 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 190415567 A C - - - - - - 26 0 0 51 6 11.8 45 3 6.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.574479691 0.574479691 1 0.36544098 0.36544098 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000232 1 0.001516071 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 190618379 T C - - - - - - 51 0 0 52 9 17.3 45 5 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.842245648 0.842245648 1 0.605432071 0.605432071 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-12 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 190710909 C G - - - - - - 32 0 0 47 8 17 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.827640232 0.827640232 1 1.167229399 1.167229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-10 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 190887526 A G - - - - - - 42 0 0 52 15 28.8 56 13 23.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.402119923 1.402119923 1 1.265407572 1.265407572 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-22 1 1.89E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 190937145 G A OSTN CCDS3299.1 r.? - - intronic 37 0 0 56 9 16.1 47 11 23.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.783823985 0.783823985 1 1.276316258 1.276316258 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-11 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 190946421 T G OSTN CCDS3299.1 r.? - - intronic 38 0 0 49 11 22.4 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.090537718 1.090537718 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 190972167 G C OSTN CCDS3299.1 r.? - - downstream 39 0 0 37 10 27 49 13 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.314487427 1.314487427 1 1.445400891 1.445400891 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 2.71E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 191271441 T G - - - - - - 33 0 0 44 9 20.5 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.99803675 0.99803675 1 1.134503341 1.134503341 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 191346686 C G - - - - - - 42 0 0 45 6 13.3 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.64750677 0.64750677 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000108 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 191396680 C A - - - - - - 30 0 0 44 14 31.8 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.548174081 0.774087041 2 0.719973274 0.719973274 1 NA NA 1 NA NA 1 5 NA 1 1 6.1E-22 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 191404001 A G - - - - - - 32 0 0 48 7 14.6 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.710796905 0.710796905 1 0.970873051 0.970873051 1 NA NA 1 NA NA 1 5 NA 1 1 4.81E-09 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 191418841 T A - - - - - - 40 0 0 44 7 15.9 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.774087041 0.774087041 1 0.889057906 0.889057906 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 191886873 T C FGF12 CCDS3301.1 r.? - - intronic 29 0 0 62 10 16.1 51 10 19.6 2 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.783823985 0.783823985 1 1.069051225 1.069051225 1 NA NA 1 NA NA 1 5 NA 1 1 8.29E-13 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 192181511 T A FGF12 CCDS46983.1 r.? - - intronic 34 0 0 37 10 27 47 6 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.314487427 1.314487427 1 0.698155902 0.698155902 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 192271514 G A FGF12 CCDS46983.1 r.? - - intronic 36 0 0 56 10 17.9 54 12 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.87145648 0.87145648 1 1.210864143 1.210864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.82E-13 1 6.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 192467089 C A FGF12 CCDS46983.1 r.? - - intronic 32 0 0 44 8 18.2 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.886061896 0.886061896 1 1.030870824 1.030870824 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 192714707 A T - - - - - - 23 0 0 47 10 21.3 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.036984526 1.036984526 1 1.363585746 1.363585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 192783057 G T - - - - - - 31 0 0 48 10 20.8 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.012642166 1.012642166 1 0.889057906 0.889057906 1 NA NA 1 NA NA 1 5 NA 1 1 5.37E-14 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 193013442 T C ATP13A5 CCDS33914.1 r.? - - intronic 39 0 0 45 14 31.1 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.514094778 1.514094778 1 1.069051225 1.069051225 1 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 193107093 G A - - - - - - 26 0 0 46 8 17.4 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.84711412 0.84711412 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-11 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 193210449 G A ATP13A4 CCDS3304.2 r.? - - intronic 33 0 0 44 9 20.5 52 11 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.99803675 0.99803675 1 1.156320713 1.156320713 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 193258807 G A ATP13A4 CCDS3304.2 r.? - - intronic 41 0 0 38 6 15.8 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.769218569 0.769218569 1 0.93269265 0.93269265 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 193445238 T G - - - - - - 28 0 0 56 11 19.6 45 8 17.8 0 0 NA 2 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 0.970873051 0.970873051 1 0 0 1 NA NA 1 5 NA 1 1 5.91E-15 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 193939012 C G - - - - - - 33 0 0 61 17 27.9 47 17 36.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.358303675 1.358303675 1 1.97447216 0.98723608 2 NA NA 1 NA NA 1 5 NA 1 1 3.33E-25 1 1.81E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 194324136 T G TMEM44 CCDS3308.1 r.? - - intronic 27 0 0 36 9 25 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.058142539 1.058142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 194431254 C T - - - - - - 22 0 0 64 7 10.9 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.530663443 0.530663443 1 0.725427617 0.725427617 1 NA NA 1 NA NA 1 5 NA 1 1 3.78E-08 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 194648559 T C - - - - - - 40 0 0 44 10 22.7 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.105143133 1.105143133 1 0.889057906 0.889057906 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 194660823 C G - - - - - - 39 0 0 42 6 14.3 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 0.850877506 0.850877506 1 NA NA 1 NA NA 1 5 NA 1 1 7.02E-08 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 194677314 G T - - - - - - 24 0 0 57 8 14 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.681586074 0.681586074 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-10 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 194717929 A T - - - - - - 32 0 0 56 7 12.5 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.608558994 0.608558994 1 1.003599109 1.003599109 1 NA NA 1 NA NA 1 5 NA 1 1 1.46E-08 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 194748205 C T - - - - - - 25 0 0 47 10 21.3 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.036984526 1.036984526 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 195273745 G C PPP1R2P3 CCDS3309.1 r.? - - upstream 33 0 0 50 8 16 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.778955513 0.778955513 1 1.167229399 1.167229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.74E-10 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 195562846 T C - - - - - - 28 0 0 32 6 18.8 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.915272727 0.915272727 1 0.938146993 0.938146993 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 195579035 C A - - - - - - 32 0 0 59 17 28.8 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.402119923 1.402119923 1 1.134503341 1.134503341 1 NA NA 1 NA NA 1 5 NA 1 1 1.74E-25 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 195891322 G A - - - - - - 28 0 0 42 12 28.6 36 9 25 0 0 NA 2 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.392382979 1.392382979 1 1.363585746 1.363585746 1 0 0 1 NA NA 1 5 NA 1 1 2.35E-18 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 195981994 C A PCYT1A CCDS3315.1 r.? - - intronic 25 0 0 53 11 20.8 60 10 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.012642166 1.012642166 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.07E-15 1 5.86E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 196034628 A G TCTEX1D2 CCDS33929.1 r.? - - intronic 35 0 0 47 8 17 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.827640232 0.827640232 1 1.030870824 1.030870824 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-10 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 196080138 T C UBXN7 CCDS43191.1 r.4963a>g c.? p.? 3'UTR variant 43 0 0 62 8 12.9 64 13 20.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.628032882 0.628032882 1 1.107231626 1.107231626 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 196137361 C T UBXN7 CCDS43191.1 r.? - - intronic 29 0 0 59 8 13.6 51 9 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.662112186 0.662112186 1 0.959964365 0.959964365 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-10 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 196558630 G C PAK2 CCDS3321.1 r.5251g>c c.? p.? 3'UTR variant 33 0 0 43 10 23.3 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.134353965 1.134353965 1 1.29813363 1.29813363 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 197022139 C T DLG1 CCDS3327.1 r.? - - intronic 31 0 0 44 11 25 63 10 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 0.867240535 0.867240535 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 9.81E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 197176055 G A - - - - - - 31 0 0 46 9 19.6 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 1.04177951 1.04177951 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 197419976 A C MIR922 CCDS46987.1 r.? - - intronic 26 0 0 43 8 18.6 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.905535783 0.905535783 1 1.238135857 1.238135857 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 197624155 T C IQCG CCDS3331.1 r.? - - intronic 46 0 0 40 8 20 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 1.363585746 1.363585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 197775077 C T LMLN CCDS3332.1 r.? - - downstream 36 0 0 62 16 25.8 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.256065764 1.256065764 1 1.025416481 1.025416481 1 NA NA 1 NA NA 1 5 NA 1 1 3.36E-23 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 336619 G A ZNF141 ENST00000240499 r.? - - intronic 38 0 0 33 6 18.2 37 0 0 155 0 0 74 16 21.6 58 0 0 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 0 0 1 0.619589942 0.619589942 1 0 0 1 3 3 1 1 1.54E-08 7.81E-22 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9776b 4 695587 A T PCGF3 CCDS3339.2 r.? - - upstream 26 0 0 25 11 44 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.26212766 1.26212766 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 1 1 2.04E-19 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 1183891 T A SPON2 ENST00000515004 r.? - - intronic 35 0 0 26 7 26.9 27 11 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.771618956 0.771618956 1 1.405917595 1.405917595 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 5.92E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 2337214 G A ZFYVE28 CCDS33942.1 r.? - - intronic 32 0 0 35 13 37.1 23 9 39.1 0 0 NA 1 1 100 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.064203095 1.064203095 1 1.350648107 1.350648107 1 2.868471954 2.868471954 1 NA NA 1 5 NA 1 1 1.63E-21 0.005 1.5E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 2533134 C T - - - - - - 22 0 0 36 15 41.7 19 5 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 0.908492205 0.908492205 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-25 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 2716988 A G FAM193A CCDS33943.1 r.? - - intronic 44 0 0 45 6 13.3 34 0 0 0 0 NA 4 0 0 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.38150677 0.38150677 1 0 0 1 0 0 1 NA NA 1 3 NA 1 1 0.000000108 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 3030080 T A GRK4 CCDS33946.1 r.? - - intronic 21 0 0 32 12 37.5 26 11 42.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.461187082 1.461187082 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 3.52E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 3057102 C A - - - - - - 31 0 0 32 13 40.6 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.164599613 1.164599613 1 0.459427617 0.459427617 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-22 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 3718090 C G - - - - - - 31 0 0 34 13 38.2 21 4 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.095756286 1.095756286 1 0.656325167 0.656325167 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 3778185 C A - - - - - - 25 0 0 33 10 30.3 22 7 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 1.098481069 1.098481069 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 5039719 C T - - - - - - 33 0 0 34 9 26.5 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.760145068 0.760145068 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 5149349 G C STK32B CCDS3380.1 r.? - - intronic 40 0 0 25 10 40 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 5474767 G C STK32B CCDS3380.1 r.? - - intronic 39 0 0 25 9 36 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 5515488 C A - - - - - - 22 0 0 19 5 26.3 19 4 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.754408124 0.754408124 1 0.72886637 0.72886637 1 NA NA 1 NA NA 1 5 NA 1 1 3.43E-08 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 5855309 C A CRMP1 CCDS33950.1 r.? - - intronic 32 0 0 29 8 27.6 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 6498017 A T PPP2R2C ENST00000506140 r.? - - intronic 36 0 0 34 14 41.2 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.181810445 1.181810445 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 7.74E-24 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 7989297 T C ABLIM2 CCDS47015.1 r.? - - intronic 26 0 0 30 14 46.7 24 10 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.339576402 1.339576402 1 1.440461024 1.440461024 1 NA NA 1 NA NA 1 5 NA 1 1 8.24E-25 1 1.8E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 8642012 G T - - - - - - 24 0 0 24 8 33.3 32 1 3.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.107084633 0.107084633 1 NA NA 1 NA NA 1 3 NA 1 1 2.68E-13 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 8707422 T C - - - - - - 22 0 0 19 9 47.4 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.359655706 1.359655706 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.72E-16 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 9534996 C T - - - - - - 22 0 0 27 11 40.7 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 9714781 C G - - - - - - 37 0 0 30 8 26.7 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 0.549240535 0.549240535 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 9835967 T C SLC2A9 CCDS3406.1 r.? - - intronic 30 0 0 26 6 23.1 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.662617021 0.662617021 1 0.915400891 0.915400891 1 NA NA 1 NA NA 1 5 NA 1 1 3.3E-09 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 10263512 C A - - - - - - 28 0 0 31 14 45.2 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.296549323 1.296549323 1 0.718503341 0.718503341 1 NA NA 1 NA NA 1 5 NA 1 1 1.49E-24 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 10528724 A C CLNK CCDS47024.1 r.? - - intronic 33 0 0 27 8 29.6 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 11186375 T A - - - - - - 30 0 0 24 5 20.8 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.596642166 0.596642166 1 0.818679287 0.818679287 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 11558430 G T - - - - - - 36 0 0 29 15 51.7 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.483 1.483 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 2.22E-27 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 11802264 G A - - - - - - 27 0 0 24 11 45.8 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.313760155 1.313760155 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-19 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 11955348 G T - - - - - - 30 0 0 34 11 32.4 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 12065759 C G - - - - - - 34 0 0 27 7 25.9 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.742934236 0.742934236 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 6.36E-11 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 12518835 G T - - - - - - 40 0 0 26 5 19.2 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.550746615 0.550746615 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000188 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 12535404 T A - - - - - - 37 0 0 28 11 39.3 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.127309478 1.127309478 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 12595949 C A - - - - - - 36 0 0 32 14 43.8 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.256390716 1.256390716 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 12759030 T C - - - - - - 35 0 0 29 6 20.7 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.593773694 0.593773694 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 13120797 A C - - - - - - 42 0 0 30 10 33.3 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 13386705 T G RAB28 CCDS3409.1 r.? - - intronic 36 0 0 20 8 40 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 4.66E-14 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 13679206 G A - - - - - - 34 0 0 33 7 21.2 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.608116054 0.608116054 1 0.832496659 0.832496659 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 14143889 T G - - - - - - 29 0 0 18 6 33.3 24 10 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.440461024 1.440461024 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-10 1 1.8E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 14455460 T C - - - - - - 35 0 0 35 14 40 34 7 20.6 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.711594655 0.711594655 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-23 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 14478869 C A - - - - - - 51 0 0 24 6 25 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.915400891 0.915400891 1 NA NA 1 NA NA 1 5 NA 1 1 1.95E-09 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 14739393 C G - - - - - - 31 0 0 32 13 40.6 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.164599613 1.164599613 1 1.115752784 1.115752784 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-22 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 14781801 G A - - - - - - 34 0 0 31 11 35.5 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 1.357556793 1.357556793 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 15306946 G A - - - - - - 32 0 0 21 5 23.8 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.682696325 0.682696325 1 0.791044543 0.791044543 1 NA NA 1 NA NA 1 5 NA 1 1 5.95E-08 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 15671625 A G FBXL5 ENST00000507899 r.? - - intronic 39 0 0 33 15 45.5 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.91E-26 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 15821868 G A CD38 CCDS3417.1 r.? - - intronic 24 0 0 40 17 42.5 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.21910058 1.21910058 1 0.618327394 0.618327394 1 NA NA 1 NA NA 1 5 NA 1 1 6.07E-29 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 15932096 T G - - - - - - 42 0 0 23 9 39.1 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 15956687 C T - - - - - - 24 0 0 32 9 28.1 13 1 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.806040619 0.806040619 1 0.26598441 0.26598441 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 0.063085307 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 15975346 T C PROM1 CCDS47029.1 r.? - - intronic 28 0 0 39 11 28.2 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.808909091 0.808909091 1 0.749592428 0.749592428 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 16136310 G A - - - - - - 23 0 0 28 12 42.9 39 13 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 8.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 16268826 T G - - - - - - 38 0 0 26 8 30.8 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 16824189 A T LDB2 CCDS3420.1 r.? - - intronic 38 0 0 18 8 44.4 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.273601547 1.273601547 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-14 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 16911355 A T - - - - - - 28 0 0 29 12 41.4 45 16 35.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 1.229746102 1.229746102 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 8.61E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 17164112 T A - - - - - - 30 0 0 22 10 45.5 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 5.98E-18 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 17295407 A T - - - - - - 35 0 0 24 10 41.7 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 1.8E-17 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 18026814 G A LCORL CCDS3425.1 r.? - - upstream 35 0 0 31 8 25.8 22 9 40.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.740065764 0.740065764 1 1.412826281 1.412826281 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 9.16E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 18027170 C A LCORL CCDS3425.1 r.? - - upstream 36 0 0 50 14 28 41 18 43.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 1.51645657 1.51645657 1 NA NA 1 NA NA 1 5 NA 1 1 4.84E-21 1 6.91E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 18558772 A T - - - - - - 33 0 0 25 4 16 34 3 8.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.458955513 0.458955513 1 0.303982183 0.303982183 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000727 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 18705729 C A - - - - - - 36 0 0 26 7 26.9 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.771618956 0.771618956 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 18862600 C G - - - - - - 23 0 0 32 10 31.2 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 19028304 G C - - - - - - 36 0 0 33 16 48.5 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.391208897 1.391208897 1 1.184839644 1.184839644 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-28 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 19230079 A C - - - - - - 29 0 0 25 9 36 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 19281775 A G - - - - - - 34 0 0 41 13 31.7 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.909305609 0.909305609 1 0.915400891 0.915400891 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 20816243 C T KCNIP4 CCDS43217.1 r.? - - intronic 34 0 0 31 9 29 26 0 0 255 0 0 69 5 7.2 66 0 0 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 0 0 1 0.206529981 0.206529981 1 0 0 1 3 2 1 1 3.57E-14 0.0000269 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9776b 4 21927585 C A KCNIP4 CCDS43216.1 r.? - - intronic 38 0 0 25 7 28 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 22204474 G T - - - - - - 43 0 0 29 8 27.6 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 0.818679287 0.818679287 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 22210589 G T - - - - - - 28 0 0 30 11 36.7 29 11 37.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 1.309195991 1.309195991 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 22349336 A C - - - - - - 30 0 0 26 12 46.2 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.325234043 1.325234043 1 0.835951002 0.835951002 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-21 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 22662030 G T - - - - - - 24 0 0 38 13 34.2 19 3 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.981017408 0.981017408 1 0.545786192 0.545786192 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 22894351 A T - - - - - - 46 0 0 35 10 28.6 39 18 46.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.595906459 1.595906459 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 2.15E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 22988616 T C - - - - - - 34 0 0 39 19 48.7 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.396945841 1.396945841 1 0.445610245 0.445610245 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-33 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 23238469 A G - - - - - - 37 0 0 42 11 26.2 20 4 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.751539652 0.751539652 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 23740375 C A - - - - - - 40 0 0 17 13 76.5 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 2.194381044 2.194381044 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.85E-27 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 24557435 G A DHX15 CCDS33966.1 r.? - - intronic 35 0 0 31 12 38.7 28 15 53.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.110098646 1.110098646 1 1.85152784 1.85152784 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 1.07E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 24902786 G C CCDC149 ENST00000504487 r.? - - intronic 36 0 0 23 9 39.1 42 17 40.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 1.399008909 1.399008909 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 1.73E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 25610503 G A - - - - - - 39 0 0 42 15 35.7 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 0.915400891 0.915400891 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 26563504 C G - - - - - - 35 0 0 29 9 31 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 27811757 A G - - - - - - 39 0 0 35 13 37.1 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.064203095 1.064203095 1 0.780681514 0.780681514 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 28865388 G A - - - - - - 26 0 0 25 8 32 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 28911875 T A - - - - - - 39 0 0 30 12 40 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 29103228 G A - - - - - - 32 0 0 30 9 30 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 29430238 T A - - - - - - 40 0 0 24 8 33.3 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.908492205 0.908492205 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-13 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 29857451 T G - - - - - - 37 0 0 38 7 18.4 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.527798839 0.527798839 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 29919259 T A - - - - - - 26 0 0 34 14 41.2 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.181810445 1.181810445 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 7.74E-24 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 29937888 G T - - - - - - 39 0 0 23 10 43.5 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.2477853 1.2477853 1 0.835951002 0.835951002 1 NA NA 1 NA NA 1 5 NA 1 1 1.05E-17 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 30020625 C A ENSG00000237496 ENST00000424014 r.? - - intronic 41 0 0 26 11 42.3 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 0.749592428 0.749592428 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 30544202 G C - - - - - - 36 0 0 24 9 37.5 26 12 46.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.595906459 1.595906459 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 2.21E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 30622284 A T - - - - - - 42 0 0 22 4 18.2 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 0.493971047 0.493971047 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000425 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 31121972 T A PCDH7 CCDS43220.1 r.? - - intronic 33 0 0 23 4 17.4 30 6 20 0 0 NA 1 0 0 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.49911412 0.49911412 1 0.690868597 0.690868597 1 0 0 1 NA NA 1 5 NA 1 1 0.00000513 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 31325447 C T - - - - - - 29 0 0 26 9 34.6 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 31465463 T A - - - - - - 43 0 0 24 8 33.3 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-13 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 32212503 A T - - - - - - 31 0 0 37 15 40.5 20 7 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.161731141 1.161731141 1 1.209020045 1.209020045 1 NA NA 1 NA NA 1 5 NA 1 1 2.58E-25 1 5.72E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 33234363 T G - - - - - - 32 0 0 21 8 38.1 24 10 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.092887814 1.092887814 1 1.440461024 1.440461024 1 NA NA 1 NA NA 1 5 NA 1 1 7.5E-14 1 1.8E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 34449799 T A - - - - - - 46 0 0 25 5 20 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 1.278106904 1.278106904 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000153 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 34770521 C A - - - - - - 28 0 0 32 16 50 27 11 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.405917595 1.405917595 1 NA NA 1 NA NA 1 5 NA 1 1 8.51E-29 1 5.92E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 35702415 A G - - - - - - 29 0 0 31 13 41.9 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 36148913 C G ARAP2 CCDS3441.1 r.3753+5g>c c.3263+5G>C p.? ess splice 35 0 0 27 10 37 25 8 32 102 0 0 30 13 43.3 48 4 8.3 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 1.105389755 1.105389755 1 1.242048356 1.242048356 1 0.286710468 0.286710468 1 5 5 1 1 7.62E-17 1.35E-22 3.92E-13 0.000102016 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 4 36505358 A T - - - - - - 43 0 0 26 10 38.5 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 36509174 C A - - - - - - 41 0 0 27 12 44.4 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.273601547 1.273601547 1 1.202111359 1.202111359 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-21 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 36523194 C T - - - - - - 27 0 0 38 13 34.2 18 7 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.981017408 0.981017408 1 1.343739421 1.343739421 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 2.37E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 37024212 T A - - - - - - 33 0 0 29 10 34.5 27 11 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 1.405917595 1.405917595 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 5.92E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 37647198 G C RELL1 CCDS43221.1 r.? - - intronic 26 0 0 28 9 32.1 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.920779497 0.920779497 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 38320654 C G - - - - - - 25 0 0 35 14 40 17 2 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.407612472 0.407612472 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-23 1 0.003234386 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 38417837 C G - - - - - - 32 0 0 43 17 39.5 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.133046422 1.133046422 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 2.84E-28 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 38584503 G C - - - - - - 38 0 0 44 13 29.5 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.846199226 0.846199226 1 1.357556793 1.357556793 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 38686911 A G KLF3 CCDS3444.1 r.? - - intronic 34 0 0 37 5 13.5 33 0 0 269 0 0 100 17 17 17 0 0 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.387243714 0.387243714 1 0 0 1 0.487640232 0.487640232 1 0 0 1 3 3 1 1 0.00000119 3.43E-21 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 39255180 C A WDR19 CCDS47042.1 r.? - - intronic 33 0 0 23 8 34.8 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 39786112 A G UBE2K CCDS33976.1 r.? - - downstream 30 0 0 27 5 18.5 33 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.530667311 0.530667311 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000023 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 41297785 T G - - - - - - 47 0 0 33 8 24.2 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.694170213 0.694170213 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 41413055 A T LIMCH1 CCDS33977.1 r.? - - intronic 33 0 0 26 9 34.6 27 12 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.533728285 1.533728285 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 3.96E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 42272817 G T - - - - - - 39 0 0 28 7 25 33 13 39.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.361011136 1.361011136 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 42512628 C A ATP8A1 CCDS3466.1 r.? - - intronic 32 0 0 30 10 33.3 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 43184599 T A - - - - - - 46 0 0 24 9 37.5 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 44015025 A T - - - - - - 30 0 0 34 15 44.1 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.264996132 1.264996132 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-26 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 45490310 C G - - - - - - 32 0 0 19 7 36.8 28 13 46.4 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1.641762451 1 1 0 0 1 0.358237549 NA 2 NA 0 NA 0.641762451 1.055597679 1.055597679 1 1.900592922 1.157654033 1.641762451 NA NA 0 NA NA 0 5 NA 1 1 3.73E-12 1 4.26E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 46025481 G A - - - - - - 33 0 0 27 16 59.3 27 12 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.641762451 1 1 0 0 1 0.358237549 NA 2 NA 0 NA 0.641762451 1.701003868 1.701003868 1 1.818670813 1.107755152 1.641762451 NA NA 0 NA NA 0 5 NA 1 1 1.89E-30 1 3.96E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 46044711 A G GABRG1 CCDS3470.1 r.? - - intronic 42 0 0 32 9 28.1 38 17 44.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.641762451 1 1 0 0 1 0.358237549 NA 2 NA 0 NA 0.641762451 0.806040619 0.806040619 1 1.83095913 1.115239984 1.641762451 NA NA 0 NA NA 0 5 NA 1 1 4.94E-14 1 1.99E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 46164386 G T - - - - - - 38 0 0 28 11 39.3 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.641762451 1 1 0 0 1 0.358237549 NA 2 NA 0 NA 0.641762451 1.127309478 1.127309478 1 1.536039538 1.536039538 1 NA NA 1 NA NA 0 5 NA 1 1 9.7E-19 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 46363796 C A GABRA2 CCDS3471.1 r.? - - intronic 36 0 0 32 14 43.8 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.641762451 1 1 0 0 1 0.358237549 NA 2 NA 0 NA 0.641762451 1.256390716 1.256390716 1 1.277984896 1.277984896 1 NA NA 0 NA NA 0 5 NA 1 1 2.65E-24 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 46453144 T A GABRA2 ENST00000510861 r.? - - intronic 33 0 0 24 11 45.8 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.641762451 1 1 0 0 1 0.358237549 NA 2 NA 0 NA 0.641762451 1.313760155 1.313760155 1 1.609769436 1.609769436 1 NA NA 0 NA NA 0 5 NA 1 1 1.15E-19 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 46508205 T A - - - - - - 53 0 0 19 8 42.1 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.641762451 1 1 0 0 1 0.358237549 NA 2 NA 0 NA 0.641762451 1.207626692 1.207626692 1 1.241119947 1.241119947 1 NA NA 0 NA NA 0 5 NA 1 1 2.81E-14 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 46655452 C A - - - - - - 28 0 0 17 6 35.3 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.641762451 1 1 0 0 1 0.358237549 NA 2 NA 0 NA 0.641762451 1.0125706 1.0125706 1 1.585192803 1.585192803 1 NA NA 0 NA NA 0 5 NA 1 1 1.84E-10 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 46719904 C A - - - - - - 43 0 0 27 11 40.7 29 14 48.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.641762451 1 1 0 0 1 0.358237549 NA 2 NA 0 NA 0.641762451 1.167468085 1.167468085 1 1.978418925 1.205057969 1.641762451 NA NA 0 NA NA 1 5 NA 1 1 5.92E-19 1 4.41E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 46988290 T C GABRA4 CCDS3473.1 r.? - - intronic 35 0 0 28 9 32.1 36 14 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.641762451 1 1 0 0 1 0.358237549 NA 2 NA 0 NA 0.641762451 0.920779497 0.920779497 1 1.593385014 0.97053323 1.641762451 NA NA 0 NA NA 0 5 NA 1 1 1.24E-14 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 46993442 G T GABRA4 CCDS3473.1 r.? - - intronic 31 0 0 27 6 22.2 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.641762451 1 1 0 0 1 0.358237549 NA 2 NA 0 NA 0.641762451 0.636800774 0.636800774 1 1.323042056 1.323042056 1 NA NA 0 NA NA 0 5 NA 1 1 4.23E-09 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 47250783 T C GABRB1 CCDS3474.1 r.? - - intronic 35 0 0 27 10 37 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.641762451 1 1 0 0 1 0.358237549 NA 2 NA 0 NA 0.641762451 1.061334623 1.061334623 1 1.187870576 1.187870576 1 NA NA 0 NA NA 0 5 NA 1 1 7.62E-17 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 47290075 C G GABRB1 CCDS3474.1 r.? - - intronic 43 0 0 33 7 21.2 27 12 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.641762451 1 1 0 0 1 0.358237549 NA 2 NA 0 NA 0.641762451 0.608116054 0.608116054 1 1.818670813 1.107755152 1.641762451 NA NA 0 NA NA 0 5 NA 1 1 2.98E-10 1 3.96E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 47327750 C T GABRB1 CCDS3474.1 r.? - - intronic 31 0 0 19 5 26.3 38 16 42.1 0 0 NA 0 0 NA 2 2 100 TRUE FALSE 1 1.641762451 1 1 0 0 1 0.358237549 NA 2 NA 0 NA 0.641762451 0.754408124 0.754408124 1 1.724460388 1.050371439 1.641762451 NA NA 0 4.096105435 2.494944036 1.641762451 5 NA 1 1 3.43E-08 1 3.06E-27 0.000025 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 47463259 C G COMMD8 CCDS3475.1 r.? - - intronic 38 0 0 32 5 15.6 35 14 40 106 0 0 41 19 46.3 51 5 9.8 TRUE TRUE 1 1.641762451 1 1 0 0 1 0.358237549 NA 2 NA 0 NA 0.641762451 0.447481625 0.447481625 1 1.638442174 0.997977614 1.641762451 1.328102515 1.328102515 1 0.401418333 0.625493642 0.641762451 5 6 1 1 0.000000562 4.2E-33 1.28E-23 0.00000606 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 4 47463327 A C COMMD8 CCDS3475.1 r.? - - intronic 34 0 0 32 6 18.8 37 11 29.7 66 0 0 26 12 46.2 33 0 0 TRUE FALSE 1 1.641762451 1 1 0 0 1 0.358237549 NA 2 NA 0 NA 0.641762451 0.539272727 0.539272727 1 1.216543314 1.216543314 1 1.325234043 1.325234043 1 0 NA 0 5 NA 1 1 1.27E-08 2.21E-21 3.7E-17 1 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9776b 4 48161143 G A TEC CCDS3481.1 r.? - - intronic 30 0 0 37 11 29.7 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.85193617 0.85193617 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 49542612 G T - - - - - - 46 0 0 49 7 14.3 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.410191489 0.410191489 1 0.545786192 0.545786192 1 NA NA 1 NA NA 1 4 NA 1 1 5.58E-09 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 53311316 G C - - - - - - 23 0 0 35 10 28.6 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 53560162 G A - - - - - - 34 0 0 24 7 29.2 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 0.915400891 0.915400891 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 53560209 C A - - - - - - 26 0 0 28 13 46.4 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.330970986 1.330970986 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.26E-23 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 54535345 T G AC110792.1 ENST00000511394 r.? - - intronic 30 0 0 25 7 28 17 6 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 1.219383073 1.219383073 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 1.84E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 55041589 C T FIP1L1 ENST00000507166 r.? - - intronic 23 0 0 21 11 52.4 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.503079304 1.503079304 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-20 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 55354348 A T - - - - - - 38 0 0 32 13 40.6 37 14 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.164599613 1.164599613 1 1.305741648 1.305741648 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-22 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 55844002 G T - - - - - - 31 0 0 33 13 39.4 18 7 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.13017795 1.13017795 1 1.343739421 1.343739421 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 2.37E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 56948253 G T - - - - - - 33 0 0 32 11 34.4 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.986754352 0.986754352 1 1.219383073 1.219383073 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 57598195 G T - - - - - - 21 0 0 29 11 37.9 22 7 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 1.098481069 1.098481069 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 58302989 T C - - - - - - 37 0 0 31 10 32.3 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 58426480 T C - - - - - - 33 0 0 26 5 19.2 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.550746615 0.550746615 1 0.545786192 0.545786192 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000188 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 58948589 T A - - - - - - 32 0 0 37 14 37.8 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.084282398 1.084282398 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-23 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 59252130 C T - - - - - - 38 0 0 27 11 40.7 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 59453874 G A - - - - - - 45 0 0 22 11 50 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 0.908492205 0.908492205 1 NA NA 1 NA NA 1 5 NA 1 1 3.27E-20 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 59986893 A T - - - - - - 29 0 0 28 11 39.3 23 4 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.127309478 1.127309478 1 0.601055679 0.601055679 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 60134177 A C - - - - - - 32 0 0 45 10 22.2 52 17 32.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.636800774 0.636800774 1 1.129570156 1.129570156 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 1.42E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 60625681 A G - - - - - - 29 0 0 23 9 39.1 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 60648493 C A - - - - - - 35 0 0 25 10 40 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 61928088 A T - - - - - - 17 0 0 12 5 41.7 18 4 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.4E-09 1 0.00000181 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 62193506 C G LPHN3 ENST00000512091 r.? - - intronic 34 0 0 35 11 31.4 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.900700193 0.900700193 1 1.202111359 1.202111359 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 62241472 G T LPHN3 ENST00000512091 r.? - - intronic 43 0 0 26 11 42.3 30 13 43.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.495730512 1.495730512 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 1.35E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 62483602 C G LPHN3 ENST00000512091 r.? - - intronic 27 0 0 35 7 20 27 0 0 94 0 0 40 2 5 157 0 0 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0 0 1 0.143423598 0.143423598 1 0 0 1 3 2 1 1 4.65E-10 0.017193422 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9776b 4 62599908 A T LPHN3 ENST00000512091 r.? - - intronic 29 0 0 29 9 31 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 1.091572383 1.091572383 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 62729711 G T LPHN3 ENST00000512091 r.? - - intronic 39 0 0 34 19 55.9 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.603475822 1.603475822 1 0.780681514 0.780681514 1 NA NA 1 NA NA 1 5 NA 1 1 3.3E-35 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 62924769 C T LPHN3 ENST00000512091 r.? - - intronic 33 0 0 29 9 31 16 6 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 1.2E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 62939356 C A LPHN3 ENST00000512091 r.? - - downstream 39 0 0 26 8 30.8 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 62952545 G A - - - - - - 38 0 0 21 9 42.9 27 11 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 1.405917595 1.405917595 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-16 1 5.92E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 63019362 C G - - - - - - 29 0 0 33 13 39.4 40 14 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.13017795 1.13017795 1 1.209020045 1.209020045 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 63021541 T A - - - - - - 37 0 0 40 15 37.5 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.718503341 0.718503341 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-24 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 63083244 G A - - - - - - 33 0 0 38 11 28.9 27 11 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.828988395 0.828988395 1 1.405917595 1.405917595 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 5.92E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 63502963 C T - - - - - - 45 0 0 33 12 36.4 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 63589337 C A - - - - - - 36 0 0 23 8 34.8 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 63627846 C T - - - - - - 33 0 0 36 10 27.8 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.797435203 0.797435203 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 63997436 T C - - - - - - 25 0 0 29 7 24.1 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.691301741 0.691301741 1 0.594146993 0.594146993 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 64517224 C A - - - - - - 38 0 0 24 14 58.3 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.672319149 1.672319149 1 0.832496659 0.832496659 1 NA NA 1 NA NA 1 5 NA 1 1 1.14E-26 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 64865359 T A - - - - - - 29 0 0 29 9 31 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 64875327 T C - - - - - - 44 0 0 22 7 31.8 28 13 46.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 1.602815145 1.602815145 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 4.26E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 65059936 T A - - - - - - 42 0 0 33 11 33.3 27 13 48.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.661538976 1.661538976 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 2.29E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 65678648 C A - - - - - - 37 0 0 19 7 36.8 23 4 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.055597679 1.055597679 1 0.601055679 0.601055679 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-12 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 65862717 C A - - - - - - 32 0 0 35 12 34.3 26 11 42.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.98388588 0.98388588 1 1.461187082 1.461187082 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 3.52E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 66450957 T A EPHA5 CCDS3513.1 r.? - - intronic 39 0 0 24 7 29.2 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 66718813 A T - - - - - - 42 0 0 28 12 42.9 22 4 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 67638088 G A - - - - - - 34 0 0 26 6 23.1 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.662617021 0.662617021 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 3.3E-09 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 68058192 G A - - - - - - 43 0 0 33 7 21.2 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.608116054 0.608116054 1 0.504334076 0.504334076 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 68477627 G C UBA6 CCDS3516.1 r.? - - downstream 35 0 0 17 9 52.9 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.517421663 1.517421663 1 1.357556793 1.357556793 1 NA NA 1 NA NA 1 5 NA 1 1 4.58E-17 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 68633645 G T - - - - - - 33 0 0 32 13 40.6 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.164599613 1.164599613 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-22 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 69230899 G A - - - - - - 34 0 0 26 10 38.5 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 69546200 T C - - - - - - 37 0 0 35 17 48.6 21 3 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.394077369 1.394077369 1 0.493971047 0.493971047 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-30 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 69606224 T A - - - - - - 35 0 0 35 16 45.7 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.310891683 1.310891683 1 1.119207127 1.119207127 1 NA NA 1 NA NA 1 5 NA 1 1 5.66E-28 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 69853524 T A - - - - - - 28 0 0 21 8 38.1 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.092887814 1.092887814 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 7.5E-14 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 70076148 A T UGT2B11 CCDS3527.1 r.? - - intronic 45 0 0 26 10 38.5 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 0.639053452 0.639053452 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 70722931 A G SULT1E1 CCDS3531.1 r.? - - intronic 32 0 0 23 9 39.1 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 70987836 G C - - - - - - 40 0 0 18 8 44.4 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.273601547 1.273601547 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-14 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 71225833 A C SMR3A CCDS34000.1 r.? - - upstream 43 0 0 28 10 35.7 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 71664327 C T RUFY3 CCDS34001.1 r.? - - intronic 30 0 0 33 14 42.4 26 13 50 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 1.687659939 2 1 2 0 0 0.312340061 1 2 NA 0 NA 0.687659939 NA 1.507799922 1.507799922 1 2.227171492 1.113585746 2 NA NA 0 0 0 1 5 NA 1 1 4.57E-24 1 1.2E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 72156029 G A SLC4A4 CCDS47071.1 r.? - - intronic 31 0 0 49 23 46.9 43 16 37.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.687659939 2 1 2 0 0 0.312340061 1 2 NA 0 NA 0.687659939 NA 1.667825858 0.988247584 1.687659939 1.65701559 0.828507795 2 NA NA 0 NA NA 1 5 NA 1 1 6.14E-40 1 3.56E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 72434424 T C SLC4A4 CCDS47071.1 r.4216u>c c.? p.? 3'UTR variant 35 0 0 35 12 34.3 38 16 42.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.687659939 2 1 2 0 0 0.312340061 1 2 NA 0 NA 0.687659939 NA 1.219753239 1.219753239 1 1.875278396 0.937639198 2 NA NA 0 NA NA 1 5 NA 1 1 1.83E-19 1 3.06E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 72823892 A T - - - - - - 32 0 0 51 24 47.1 39 21 53.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.687659939 2 1 2 0 0 0.312340061 1 2 NA 0 NA 0.687659939 NA 1.674938121 0.99246186 1.687659939 2.396436526 1.198218263 2 NA NA 0 NA NA 1 5 NA 1 1 1.2E-41 1 2.73E-38 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 73131184 C G - - - - - - 45 0 0 31 15 48.4 44 17 38.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.687659939 2 1 2 0 0 0.312340061 1 2 NA 0 NA 0.687659939 NA 1.721167836 1.01985465 1.687659939 1.719376392 0.859688196 2 NA NA 0 NA NA 1 5 NA 1 1 8.51E-27 1 4.61E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 74131489 A C AC053527.1 ENST00000408712 r.? - - downstream 42 0 0 54 20 37 48 20 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.687659939 2 1 2 0 0 0.312340061 1 2 NA 0 NA 0.687659939 NA 1.3157688 1.3157688 1 1.857461024 0.928730512 2 NA NA 0 NA NA 1 5 NA 1 1 2.61E-32 1 1.4E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 74145814 G T - - - - - - 34 0 0 39 23 59 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.687659939 2 1 2 0 0 0.312340061 1 2 NA 0 NA 0.687659939 NA 2.098117817 1.243211247 1.687659939 1.380846325 1.380846325 1 NA NA 0 NA NA 1 5 NA 1 1 4.16E-43 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 74565911 T C - - - - - - 27 0 0 41 25 61 44 23 52.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.749767892 1.749767892 1 1.806621381 1.806621381 1 NA NA 1 NA NA 1 5 NA 1 1 2.84E-47 1 2.17E-41 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 75232531 A G EREG CCDS3564.1 r.? - - intronic 41 0 0 22 5 22.7 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.651143133 0.651143133 1 0.932672606 0.932672606 1 NA NA 1 NA NA 1 5 NA 1 1 7.67E-08 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 75593014 T A - - - - - - 42 0 0 23 10 43.5 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.2477853 1.2477853 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.05E-17 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 75679731 A T BTC CCDS3566.1 r.? - - intronic 32 0 0 33 18 54.5 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.563317215 1.563317215 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 3.68E-33 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 76151777 T C - - - - - - 36 0 0 21 7 33.3 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-12 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 78681599 T C CNOT6L CCDS47082.1 r.? - - intronic 37 0 0 34 18 52.9 23 11 47.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.517421663 1.517421663 1 1.651175947 1.651175947 1 NA NA 1 NA NA 1 5 NA 1 1 7.79E-33 1 6.25E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 79206985 C T FRAS1 ENST00000264895 r.? - - intronic 35 0 0 20 7 35 26 6 23.1 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.003965184 1.003965184 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-12 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 79237793 C G FRAS1 ENST00000264895 r.? - - intronic 32 0 0 38 10 26.3 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.754408124 0.754408124 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 79897739 C A - - - - - - 34 0 0 22 9 40.9 19 4 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.173205029 1.173205029 1 0.72886637 0.72886637 1 NA NA 1 NA NA 1 5 NA 1 1 9.16E-16 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 80081526 A T - - - - - - 39 0 0 35 16 45.7 19 7 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.310891683 1.310891683 1 1.271198218 1.271198218 1 NA NA 1 NA NA 1 5 NA 1 1 5.66E-28 1 3.73E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 80775300 C A - - - - - - 40 0 0 25 8 32 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 0.732320713 0.732320713 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 80783491 A G - - - - - - 36 0 0 25 10 40 12 3 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 0.0000266 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 80956708 G A ANTXR2 CCDS47085.1 r.? - - intronic 21 0 0 34 9 26.5 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.760145068 0.760145068 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 81003094 C T - - - - - - 31 0 0 23 5 21.7 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.622458414 0.622458414 1 0.915400891 0.915400891 1 NA NA 1 NA NA 1 5 NA 1 1 9.75E-08 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 81138129 C A - - - - - - 23 0 0 32 9 28.1 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.806040619 0.806040619 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 81326098 T A C4orf22 CCDS3587.1 r.? - - intronic 44 0 0 30 10 33.3 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 81478025 T A C4orf22 CCDS3587.1 r.? - - intronic 45 0 0 29 14 48.3 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.385471954 1.385471954 1 0.594146993 0.594146993 1 NA NA 1 NA NA 1 5 NA 1 1 4.41E-25 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 81913989 T A - - - - - - 36 0 0 30 7 23.3 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.668353965 0.668353965 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 82395852 A T RASGEF1B CCDS34022.1 r.? - - upstream 22 0 0 31 12 38.7 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.110098646 1.110098646 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 82772459 G A - - - - - - 39 0 0 34 14 41.2 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.181810445 1.181810445 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 7.74E-24 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 83114186 C G - - - - - - 35 0 0 28 18 64.3 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.844427466 1.844427466 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 4.77E-35 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 83124864 C T - - - - - - 54 0 0 25 7 28 26 7 26.9 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 83573276 A G SCD5 CCDS34024.1 r.? - - intronic 23 0 0 25 12 48 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.376866538 1.376866538 1 1.336830735 1.336830735 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-21 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 84768130 T A - - - - - - 35 0 0 24 7 29.2 16 2 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 0.431792873 0.431792873 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 0.002863359 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 85361545 G T - - - - - - 41 1 2.4 43 20 46.5 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.333839458 1.333839458 1 0.974124722 0.974124722 1 NA NA 1 NA NA 1 5 NA 0.18577148 1 8.21E-35 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 85927189 G T - - - - - - 29 0 0 23 7 30.4 35 4 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.872015474 0.872015474 1 0.3937951 0.3937951 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-11 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 86794212 C T ARHGAP24 CCDS34025.1 r.? - - intronic 36 0 0 28 12 42.9 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 87238653 C G MAPK10 CCDS3612.1 r.? - - intronic 38 0 0 29 7 24.1 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.691301741 0.691301741 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 90333848 T C - - - - - - 26 0 0 29 14 48.3 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.385471954 1.385471954 1 1.057028953 1.057028953 1 NA NA 1 NA NA 1 5 NA 1 1 4.41E-25 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 90586596 G T - - - - - - 25 0 0 34 7 20.6 21 7 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.590905222 0.590905222 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 8.54E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 90811100 C A MMRN1 CCDS3635.1 r.? - - intronic 34 0 0 26 12 46.2 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.325234043 1.325234043 1 0.718503341 0.718503341 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-21 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 90916237 G T - - - - - - 47 0 0 38 14 36.8 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.055597679 1.055597679 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 91891415 A G FAM190A CCDS47099.1 r.? - - intronic 30 0 0 30 7 23.3 25 9 36 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.668353965 0.668353965 1 1.243563474 1.243563474 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 3.71E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 93518304 A G GRID2 CCDS3637.1 r.? - - intronic 43 0 0 36 11 30.6 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.877752418 0.877752418 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 93820557 A C GRID2 CCDS3637.1 r.? - - intronic 38 0 0 21 5 23.8 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.682696325 0.682696325 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 5.95E-08 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 94066214 A T GRID2 CCDS3637.1 r.? - - intronic 29 0 0 28 11 39.3 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.127309478 1.127309478 1 1.001759465 1.001759465 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 94381989 C G GRID2 CCDS3637.1 r.? - - intronic 32 0 0 29 12 41.4 19 4 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 0.72886637 0.72886637 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 94689315 C T GRID2 CCDS3637.1 r.? - - intronic 43 0 0 43 18 41.9 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 0.718503341 0.718503341 1 NA NA 1 NA NA 1 5 NA 1 1 2.06E-30 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 94753637 G A ATOH1 CCDS3638.1 r.? - - downstream 35 0 0 27 13 48.1 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.37973501 1.37973501 1 1.336830735 1.336830735 1 NA NA 1 NA NA 1 5 NA 1 1 2.29E-23 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 95053152 G C - - - - - - 36 0 0 29 12 41.4 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 1.212474388 1.212474388 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 95520571 A G PDLIM5 CCDS3641.1 r.? - - intronic 28 0 0 27 10 37 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 96051065 G T BMPR1B CCDS3642.1 r.708g>u c.638G>T p.G213V missense 29 0 0 30 14 46.7 25 4 16 268 0 0 99 25 25.3 84 9 10.7 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.339576402 1.339576402 1 0.552694878 0.552694878 1 0.725723404 0.725723404 1 0.369614699 0.369614699 1 5 5 1 1 8.24E-25 3.8E-35 0.00000727 5.13E-10 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 4 96108599 C A UNC5C CCDS3643.1 r.? - - intronic 35 0 0 33 10 30.3 35 15 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 9.02E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 96611359 G A - - - - - - 39 0 0 38 11 28.9 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.828988395 0.828988395 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 96921198 G T - - - - - - 28 0 0 23 7 30.4 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.872015474 0.872015474 1 1.226291759 1.226291759 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-11 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 98232743 G C - - - - - - 46 0 0 36 10 27.8 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.797435203 0.797435203 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 98397922 G T - - - - - - 31 0 0 27 10 37 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 1.226291759 1.226291759 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 100215210 C G ADH1A CCDS3648.1 r.? - - upstream 24 0 0 28 8 28.6 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 100431187 T G C4orf17 CCDS3649.1 r.? - - upstream 37 0 0 26 10 38.5 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 100742066 G C DAPP1 ENST00000296414 r.? - - intronic 40 0 0 32 12 37.5 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.749592428 0.749592428 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 101392824 G A EMCN CCDS3655.1 r.? - - intronic 37 0 0 36 13 36.1 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.035518375 1.035518375 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 2.53E-21 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 102556360 G A BANK1 ENST00000504592 r.? - - intronic 46 0 0 31 9 29 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 102676318 G A BANK1 ENST00000504592 r.? - - intronic 40 0 0 27 8 29.6 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 1.336830735 1.336830735 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 102883167 C A BANK1 CCDS34038.1 r.? - - intronic 32 0 0 29 10 34.5 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 103410726 G A - - - - - - 33 0 0 27 8 29.6 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 0.842859688 0.842859688 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 104503156 G A TACR3 CCDS3664.1 r.? - - downstream 40 0 0 24 8 33.3 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-13 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 104710756 T A - - - - - - 32 0 0 24 8 33.3 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.732320713 0.732320713 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-13 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 104735567 A C - - - - - - 33 0 0 25 8 32 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 104737102 G T - - - - - - 47 0 0 29 9 31 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 104740588 T G - - - - - - 24 0 0 26 11 42.3 30 12 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 1.94E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 104768653 C T - - - - - - 36 0 0 29 9 31 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 105156314 A T - - - - - - 32 0 0 24 12 50 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 6.25E-22 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 105757072 G C - - - - - - 36 0 0 18 8 44.4 51 11 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.273601547 1.273601547 1 0.746138085 0.746138085 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-14 1 1.94E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 105768450 G C - - - - - - 39 0 0 31 12 38.7 19 8 42.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.110098646 1.110098646 1 1.454278396 1.454278396 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 2.81E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 106017388 A T - - - - - - 32 0 0 40 16 40 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 8.56E-27 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 106585502 C A ENSG00000236699 ENST00000420470 r.? - - intronic 32 0 0 36 18 50 25 11 44 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.519910913 1.519910913 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-32 1 2.04E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 106585504 T A ENSG00000236699 ENST00000420470 r.? - - intronic 34 0 0 35 16 45.7 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.310891683 1.310891683 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 5.66E-28 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 106672223 C T GSTCD CCDS43257.1 r.? - - intronic 35 0 0 32 8 25 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.278106904 1.278106904 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 107233664 C T TBCK CCDS3673.1 r.? - - intronic 38 0 0 36 14 38.9 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.11583559 1.11583559 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 107661464 A G - - - - - - 40 0 0 31 10 32.3 24 10 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 1.440461024 1.440461024 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 1.8E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 108783291 A G SGMS2 CCDS3677.1 r.? - - intronic 36 0 0 28 9 32.1 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.920779497 0.920779497 1 0.756501114 0.756501114 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 109002054 C T LEF1 CCDS3679.1 r.? - - intronic 36 0 0 43 18 41.9 20 5 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.06E-30 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 109350296 G T - - - - - - 32 0 0 34 11 32.4 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 109472287 C A - - - - - - 44 0 0 32 10 31.2 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 110353706 A C SEC24B CCDS47124.1 r.? - - upstream 40 0 0 30 12 40 33 15 45.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.571726058 1.571726058 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 2.91E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 110972167 A T ELOVL6 CCDS3690.1 r.1289u>a c.? p.? 3'UTR variant 49 0 0 30 11 36.7 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 111185993 C G - - - - - - 41 0 0 30 12 40 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 111464167 C G ENPEP CCDS3691.1 r.2287-4c>g c.1945-4C>G p.? splice region 42 0 0 32 9 28.1 32 8 25 174 0 0 80 24 30 21 0 0 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.806040619 0.806040619 1 0.863585746 0.863585746 1 0.860541586 0.860541586 1 0 0 1 5 5 1 1 4.94E-14 7.39E-36 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 111733429 C G - - - - - - 31 0 0 24 7 29.2 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 111749813 C G - - - - - - 45 0 0 22 10 45.5 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.98E-18 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 111889929 A G - - - - - - 35 0 0 41 17 41.5 35 14 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.190415861 1.190415861 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-28 1 1.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 112427352 A T - - - - - - 38 0 0 29 17 58.6 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.680924565 1.680924565 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 3.74E-32 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 113189334 C T AP1AR CCDS3696.1 r.1033c>u c.678C>T p.S226S silent 29 0 0 37 17 45.9 26 7 26.9 131 0 0 53 18 34 470 390 83 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.316628627 1.316628627 1 0.929218263 0.929218263 1 0.975280464 0.975280464 1 2.867104677 2.867104677 1 5 4 1 1 1.1E-29 2.09E-28 4.73E-11 0 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 4 114222346 G A ANK2 CCDS3702.1 r.? - - intronic 26 0 0 30 14 46.7 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.339576402 1.339576402 1 1.357556793 1.357556793 1 NA NA 1 NA NA 1 5 NA 1 1 8.24E-25 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 114387614 C G CAMK2D CCDS3704.1 r.? - - intronic 29 0 0 25 11 44 24 10 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.26212766 1.26212766 1 1.440461024 1.440461024 1 NA NA 1 NA NA 1 5 NA 1 1 2.04E-19 1 1.8E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 115321724 C G - - - - - - 32 0 0 35 15 42.9 21 9 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 9.02E-26 1 5.44E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 115436173 C T - - - - - - 31 0 0 24 5 20.8 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.596642166 0.596642166 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 115919630 C A NDST4 CCDS3706.1 r.? - - intronic 31 0 0 23 7 30.4 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.872015474 0.872015474 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-11 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 116250877 C A - - - - - - 49 1 2 33 15 45.5 18 7 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 1.343739421 1.343739421 1 NA NA 1 NA NA 1 5 NA 0.217776325 1 2.91E-26 1 2.37E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 116893059 G T - - - - - - 28 0 0 26 11 42.3 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.357556793 1.357556793 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 117027201 T G - - - - - - 37 0 0 23 5 21.7 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.622458414 0.622458414 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 9.75E-08 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 117371945 C T - - - - - - 28 0 0 22 5 22.7 24 8 33.3 2 0 0 2 2 100 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.651143133 0.651143133 1 1.150296214 1.150296214 1 2.868471954 2.868471954 1 NA NA 1 5 NA 1 1 7.67E-08 0.000025 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 117465582 G A - - - - - - 36 0 0 28 12 42.9 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 117731689 T G - - - - - - 26 0 0 27 11 40.7 36 13 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 1.247017817 1.247017817 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 118547449 A G - - - - - - 30 0 0 32 13 40.6 15 5 33.3 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.164599613 1.164599613 1 1.150296214 1.150296214 1 NA NA 1 0 0 1 5 NA 1 1 3.88E-22 1 0.000000009 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 119057859 G A NDST3 CCDS3708.1 r.? - - intronic 45 0 0 28 11 39.3 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.127309478 1.127309478 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 119246027 C A PRSS12 CCDS3709.1 r.? - - intronic 22 0 0 29 11 37.9 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 120313783 G C - - - - - - 42 0 0 26 8 30.8 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 122134769 C T TNIP3 CCDS3718.1 r.? - - intronic 33 0 0 18 8 44.4 26 12 46.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.273601547 1.273601547 1 1.595906459 1.595906459 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-14 1 2.21E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 122748008 G A BBS7 CCDS3724.1 r.? - - intronic 16 0 0 39 14 35.9 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.029781431 1.029781431 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 122822954 G A TRPC3 CCDS3725.1 r.? - - intronic 29 0 0 36 12 33.3 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 122947393 T C - - - - - - 33 0 0 27 10 37 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 123843860 A G SPATA5 CCDS3730.1 r.? - - upstream 37 0 0 25 9 36 17 3 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 0.607964365 0.607964365 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 0.0000807 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 124971197 T A - - - - - - 38 0 0 30 9 30 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 125181403 G A - - - - - - 25 0 0 33 10 30.3 24 10 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 1.440461024 1.440461024 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 1.8E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 125674163 G C - - - - - - 48 0 0 24 10 41.7 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 1.8E-17 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 125848605 G A - - - - - - 35 0 0 29 9 31 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 126650825 C A - - - - - - 33 0 0 29 9 31 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 126919059 C T - - - - - - 34 0 0 23 8 34.8 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 1.119207127 1.119207127 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 127147864 C A - - - - - - 36 0 0 32 14 43.8 25 12 48 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.256390716 1.256390716 1 1.658084633 1.658084633 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 1.2E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 127568462 C T - - - - - - 35 0 0 23 8 34.8 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 127972704 G T - - - - - - 31 0 0 24 11 45.8 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.313760155 1.313760155 1 0.756501114 0.756501114 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-19 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 128638092 A G INTU CCDS34061.1 r.? - - downstream 39 0 0 31 5 16.1 24 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.461823985 0.461823985 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000476 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 129461502 T C - - - - - - 31 0 0 32 7 21.9 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.628195358 0.628195358 1 0.835951002 0.835951002 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 129661565 T C - - - - - - 27 0 0 29 8 27.6 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 130286424 T A - 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- - - - - 19 0 0 30 8 26.7 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 0.915400891 0.915400891 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 135296882 A G - - - - - - 32 0 0 16 5 31.2 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 1.202111359 1.202111359 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000013 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 135408469 G A - - - - - - 39 0 0 34 13 38.2 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.095756286 1.095756286 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 135434985 G T - - - - - - 36 0 0 36 13 36.1 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.035518375 1.035518375 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.53E-21 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 135504211 C G - 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- - - - - 46 0 0 20 7 35 32 13 40.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.003965184 1.003965184 1 1.402463252 1.402463252 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-12 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 148835318 C T ARHGAP10 CCDS34075.1 r.? - - intronic 26 0 0 33 17 51.5 30 13 43.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 2 1 2 0 0 1 1 NA NA NA NA NA NA 1.477263056 1.477263056 1 1.928730512 0.964365256 2 NA NA 0 NA NA 1 5 NA 1 1 8.25E-31 1 1.35E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 149068155 A C NR3C2 CCDS3772.1 r.? - - intronic 37 0 0 34 16 47.1 43 15 34.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 2 1 2 0 0 1 1 NA NA NA NA NA NA 1.35105029 1.35105029 1 1.554565702 0.777282851 2 NA NA 0 NA NA 1 5 NA 1 1 3.09E-28 1 4.05E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 149629969 A T - - - - - - 33 0 0 42 15 35.7 42 23 54.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 2 1 2 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 2.440979955 1.220489978 2 NA NA 0 NA NA 1 5 NA 1 1 2.65E-24 1 4.86E-42 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 150274635 T C - - - - - - 39 0 0 34 15 44.1 41 18 43.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 2 1 2 0 0 1 1 NA NA NA NA NA NA 1.264996132 1.264996132 1 1.95545657 0.977728285 2 NA NA 0 NA NA 1 5 NA 1 1 5.18E-26 1 6.91E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 150522206 A T - - - - - - 35 0 0 27 6 22.2 34 18 52.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 2 1 2 0 0 1 1 NA NA NA NA NA NA 0.636800774 0.636800774 1 2.356347439 1.178173719 2 NA NA 0 NA NA 1 5 NA 1 1 4.23E-09 1 7.79E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 150713703 T C - - - - - - 30 0 0 43 27 62.8 29 11 37.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 2 1 2 0 0 1 1 NA NA NA NA NA NA 1.801400387 1.801400387 1 1.688195991 0.844097996 2 NA NA 0 NA NA 1 5 NA 1 1 1.83E-51 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 151037563 A T DCLK2 CCDS34076.1 r.? - - intronic 41 0 0 36 14 38.9 22 12 54.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 2 1 2 0 0 1 1 NA NA NA NA NA NA 1.11583559 1.11583559 1 2.427616927 1.213808463 2 NA NA 0 NA NA 1 5 NA 1 1 2.09E-23 1 1.51E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 151197023 C T LRBA CCDS3773.1 r.? - - intronic 26 0 0 33 6 18.2 23 10 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 1.502639198 1.502639198 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 1.05E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 151843301 C A LRBA CCDS3773.1 r.? - - intronic 31 0 0 28 6 21.4 27 9 33.3 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.613852998 0.613852998 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 152072237 C T SH3D19 CCDS47144.1 r.? - - intronic 27 0 0 25 11 44 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.26212766 1.26212766 1 0.884311804 0.884311804 1 NA NA 1 NA NA 1 5 NA 1 1 2.04E-19 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 153214975 T A - - - - - - 28 0 0 25 5 20 32 0 0 220 0 0 106 11 10.4 4 0 0 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0 0 1 0.298321083 0.298321083 1 0 0 1 3 2 1 1 0.000000153 8.78E-12 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 153313689 G A FBXW7 CCDS3777.1 r.? - - intronic 44 0 0 30 8 26.7 20 7 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 1.209020045 1.209020045 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 5.72E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 155514162 C T FGA CCDS3787.1 r.? - - upstream 41 0 0 28 10 35.7 18 0 0 234 0 0 128 50 39.1 41 2 4.9 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 0 0 1 1.121572534 1.121572534 1 0.169262806 0.169262806 1 3 5 1 1 1.18E-16 6.78E-80 1 0.018015855 YES 1_1 0_1 somatic custom.pulldown.HiSeq PD9776b 4 156112871 T C - - - - - - 43 0 0 34 9 26.5 20 4 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.760145068 0.760145068 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 156238909 G T - - - - - - 40 0 0 19 11 57.9 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.660845261 1.660845261 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.56E-21 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 157170832 C G - - - - - - 50 0 0 25 7 28 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 1.008668151 1.008668151 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 157468683 G A - - - - - - 33 0 0 34 11 32.4 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 163247221 G A - - - - - - 40 0 0 36 11 30.6 25 13 52 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.877752418 0.877752418 1 1.796258352 1.796258352 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 6E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 163538637 C A - - - - - - 42 0 0 33 10 30.3 37 21 56.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 1.962066815 1.962066815 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 5.69E-39 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 163878604 C T - - - - - - 40 0 0 33 12 36.4 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 163911625 G A - - - - - - 37 0 0 30 7 23.3 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.668353965 0.668353965 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 163925858 G A - - - - - - 34 0 0 35 10 28.6 26 11 42.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.461187082 1.461187082 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 3.52E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 163928010 C T - - - - - - 34 0 0 34 9 26.5 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.760145068 0.760145068 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 164200569 G A - - - - - - 36 0 0 33 9 27.3 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 0.552694878 0.552694878 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 164221779 G A - - - - - - 33 0 0 28 8 28.6 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 164295039 A T - - - - - - 38 0 0 23 5 21.7 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.622458414 0.622458414 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 9.75E-08 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 164600091 A C Mar-01 CCDS45732.1 r.? - - intronic 36 0 0 40 10 25 33 12 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 165091333 A C Mar-01 CCDS45732.1 r.? - - intronic 37 0 0 33 11 33.3 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.267743875 1.267743875 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 165376313 G A - - - - - - 54 0 0 23 9 39.1 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 1.046665924 1.046665924 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 166071814 G C TMEM192 ENST00000506087 r.? - - intronic 31 0 0 25 7 28 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 167497938 T A - - - - - - 43 0 0 20 5 25 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 4.55E-08 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 167739478 A T SPOCK3 CCDS34095.1 r.? - - intronic 24 0 0 25 9 36 32 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 3.71E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 168000079 G A SPOCK3 CCDS34095.1 r.? - - intronic 33 0 0 25 8 32 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 168237421 A G - - - - - - 29 0 0 31 5 16.1 32 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.461823985 0.461823985 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000476 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 168501891 G C - - - - - - 37 0 0 41 6 14.6 29 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.418796905 0.418796905 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 6.05E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 169428853 A C PALLD CCDS34098.1 r.? - - intronic 28 0 0 36 13 36.1 25 3 12 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.035518375 1.035518375 1 0.414521158 0.414521158 1 NA NA 1 NA NA 1 5 NA 1 1 2.53E-21 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 170991485 T A AADAT CCDS3814.1 r.? - - intronic 29 0 0 23 13 56.5 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.620686654 1.620686654 1 0.538877506 0.538877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-24 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 170991486 A G AADAT CCDS3814.1 r.? - - intronic 29 0 0 21 12 57.1 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.637897485 1.637897485 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 6.88E-23 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 172060754 C T - - - - - - 35 0 0 28 12 42.9 26 6 23.1 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 172327440 C A - - - - - - 31 0 0 30 8 26.7 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 172349498 C A - - - - - - 37 0 0 25 10 40 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 172481423 A G - - - - - - 44 0 0 30 11 36.7 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 172611832 T C - - - - - - 41 0 0 35 12 34.3 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.98388588 0.98388588 1 0.718503341 0.718503341 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 172618877 G A - - - - - - 37 0 0 37 14 37.8 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.084282398 1.084282398 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-23 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 172699794 A G - - - - - - 40 0 0 34 17 50 23 12 52.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.803167038 1.803167038 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-30 1 3.14E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 172950177 G C GALNTL6 CCDS34104.1 r.? - - intronic 39 0 0 21 9 42.9 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-16 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 173051126 C G GALNTL6 CCDS34104.1 r.? - - intronic 35 0 0 38 14 36.8 20 9 45 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.055597679 1.055597679 1 1.554454343 1.554454343 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 3.12E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 173297330 T A GALNTL6 CCDS34104.1 r.? - - intronic 38 0 0 18 7 38.9 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.11583559 1.11583559 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 2.37E-12 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 173332879 G T GALNTL6 CCDS34104.1 r.? - - intronic 48 0 0 17 5 29.4 17 5 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.843330754 0.843330754 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 1.84E-08 1 1.84E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 173804549 T C GALNTL6 CCDS34104.1 r.? - - intronic 42 0 0 25 13 52 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.491605416 1.491605416 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 6E-24 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 174411738 C G - - - - - - 32 0 0 32 10 31.2 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 174646589 G T - - - - - - 25 0 0 20 10 50 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.72E-18 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 174862274 C A - - - - - - 40 0 0 35 14 40 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-23 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 176150391 G C - - - - - - 46 0 0 31 12 38.7 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.110098646 1.110098646 1 1.008668151 1.008668151 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 176683772 A G GPM6A CCDS3824.1 r.? - - intronic 35 0 0 33 7 21.2 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.608116054 0.608116054 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 176742416 A C GPM6A CCDS3824.1 r.? - - intronic 45 0 0 33 6 18.2 33 3 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 0.314345212 0.314345212 1 NA NA 1 NA NA 1 4 NA 1 1 1.54E-08 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 176821761 G C GPM6A CCDS3824.1 r.? - - intronic 40 0 0 23 9 39.1 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 177182962 G T ASB5 CCDS3827.1 r.? - - intronic 33 0 0 31 10 32.3 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 1.278106904 1.278106904 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 177589223 G T - - - - - - 41 0 0 33 15 45.5 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 0.908492205 0.908492205 1 NA NA 1 NA NA 1 5 NA 1 1 2.91E-26 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 177933643 T C - - - - - - 34 0 0 36 11 30.6 23 9 39.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.877752418 0.877752418 1 1.350648107 1.350648107 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 1.5E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 178666205 C G ENSG00000231171 ENST00000507870 r.? - - intronic 33 0 0 28 9 32.1 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.920779497 0.920779497 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 179257351 C G - - - - - - 32 0 0 34 10 29.4 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.843330754 0.843330754 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 180078347 C G - - - - - - 35 0 0 26 12 46.2 19 10 52.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.325234043 1.325234043 1 1.81698441 1.81698441 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-21 1 8.66E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 180470081 C G - - - - - - 23 0 0 27 9 33.3 29 1 3.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.117447661 0.117447661 1 NA NA 1 NA NA 1 3 NA 1 1 8.44E-15 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 180603477 G T - - - - - - 34 0 0 37 16 43.2 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.239179884 1.239179884 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 1.78E-27 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 180841907 A G - - - - - - 36 0 0 36 15 41.7 20 6 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-25 1 5.7E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 180845615 G T - - - - - - 41 0 0 37 9 24.3 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.697038685 0.697038685 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 181138952 C T - - - - - - 46 0 0 28 10 35.7 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 181493405 T A - - - - - - 23 0 0 31 11 35.5 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 181723749 T C - - - - - - 37 0 0 38 9 23.7 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.679827853 0.679827853 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 181751025 C T - - - - - - 43 0 0 27 9 33.3 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.970670379 0.970670379 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 181760831 G A - - - - - - 27 0 0 39 12 30.8 23 10 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 1.502639198 1.502639198 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 1.05E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 181941196 A T - - - - - - 42 0 0 27 8 29.6 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 182105849 A T - - - - - - 20 0 0 33 14 42.4 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.216232108 1.216232108 1 1.001759465 1.001759465 1 NA NA 1 NA NA 1 5 NA 1 1 4.57E-24 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 182131533 T G - - - - - - 45 0 0 29 13 44.8 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.285075435 1.285075435 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 7.69E-23 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 182579492 G T - - - - - - 34 0 0 36 15 41.7 35 18 51.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 1.775532294 1.775532294 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-25 1 1.6E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 182579493 A G - - - - - - 35 0 0 36 15 41.7 35 18 51.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 1.775532294 1.775532294 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-25 1 1.6E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 182584779 C T - - - - - - 28 0 0 33 12 36.4 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 182601618 A T - - - - - - 23 0 0 30 12 40 19 8 42.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.454278396 1.454278396 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 2.81E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 183088103 A T ODZ3 ENST00000512480 r.? - - intronic 27 0 0 32 12 37.5 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.732320713 0.732320713 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 183090496 T C ODZ3 ENST00000512480 r.? - - intronic 31 0 0 36 12 33.3 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 183141299 G A ODZ3 ENST00000512480 r.? - - intronic 24 0 0 27 10 37 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 1.057028953 1.057028953 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 183630325 G T ODZ3 CCDS47165.1 r.? - - intronic 40 0 0 29 8 27.6 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 0.53196882 0.53196882 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 183695991 T C ODZ3 CCDS47165.1 r.? - - intronic 44 0 0 42 5 11.9 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.341348162 0.341348162 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 2 NA 1 1 0.00000228 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 184009815 C G - - - - - - 27 0 0 22 7 31.8 19 9 47.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 1.637358575 1.637358575 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 1.72E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 184257635 G A - - - - - - 33 0 0 35 10 28.6 22 9 40.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.412826281 1.412826281 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 9.16E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 184694304 G T - - - - - - 28 0 0 26 11 42.3 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 185576607 T C CCDC111 CCDS3837.1 r.? - - intronic 36 0 0 29 10 34.5 23 10 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 1.502639198 1.502639198 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 1.05E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 185814344 C A - - - - - - 25 0 0 33 15 45.5 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 2.91E-26 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 186010159 T A - - - - - - 25 0 0 30 4 13.3 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.38150677 0.38150677 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000154 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 186683010 A C SORBS2 CCDS3845.1 r.? - - intronic 39 0 0 28 7 25 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.267743875 1.267743875 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 187844876 A T - - - - - - 37 0 0 40 11 27.5 19 5 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.788829787 0.788829787 1 0.908492205 0.908492205 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 188107228 G C - - - - - - 25 0 0 23 7 30.4 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.872015474 0.872015474 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-11 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 188133814 T A - - - - - - 34 0 0 34 12 35.3 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.0125706 1.0125706 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 189839260 G T - - - - - - 29 0 0 27 9 33.3 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 190264424 T G - - - - - - 29 0 0 28 8 28.6 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.711594655 0.711594655 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 190357407 A G ENSG00000227461 ENST00000454642 r.? - - intronic 37 0 0 29 13 44.8 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.285075435 1.285075435 1 1.091572383 1.091572383 1 NA NA 1 NA NA 1 5 NA 1 1 7.69E-23 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 190465521 C T - - - - - - 42 0 0 24 9 37.5 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 1296770 A C TERT CCDS3861.2 r.? - - upstream 25 0 0 30 12 40 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 1401140 G C SLC6A3 CCDS3863.1 r.? - - intronic 25 0 0 34 14 41.2 20 4 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.181810445 1.181810445 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 7.74E-24 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 1495931 G A LPCAT1 CCDS3864.1 r.? - - intronic 29 0 0 37 13 35.1 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.006833656 1.006833656 1 0.915400891 0.915400891 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 2019265 G C - - - - - - 30 0 0 30 9 30 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 2019266 G T - - - - - - 33 1 3 31 9 29 20 4 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 0.15245715 1 3.57E-14 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 2078521 G A - - - - - - 40 0 0 31 7 22.6 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.648274662 0.648274662 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 2644799 G T - - - - - - 25 0 0 28 12 42.9 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 1.001759465 1.001759465 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 2694400 A C - - - - - - 27 0 0 23 6 26.1 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.74867118 0.74867118 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-09 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 3272831 G T - - - - - - 27 0 0 30 14 46.7 32 13 40.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.339576402 1.339576402 1 1.402463252 1.402463252 1 NA NA 1 NA NA 1 5 NA 1 1 8.24E-25 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 3659741 C T - - - - - - 43 0 0 33 12 36.4 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 1.357556793 1.357556793 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 3699374 T C - - - - - - 42 0 0 30 7 23.3 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.668353965 0.668353965 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 3954263 G T - - - - - - 20 0 0 25 10 40 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 3969817 A T - - - - - - 30 0 0 27 7 25.9 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.742934236 0.742934236 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 6.36E-11 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 4315299 G C - - - - - - 28 0 0 31 9 29 27 12 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 1.533728285 1.533728285 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 3.96E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 4632961 A T - - - - - - 36 0 0 33 14 42.4 25 2 8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.216232108 1.216232108 1 0.276347439 0.276347439 1 NA NA 1 NA NA 1 5 NA 1 1 4.57E-24 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 5262164 C G ADAMTS16 CCDS43299.1 r.? - - intronic 52 0 0 41 15 36.6 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.049860735 1.049860735 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 1.71E-24 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 5320280 C T ADAMTS16 CCDS43299.1 r.4842c>u c.? p.? 3'UTR variant 31 0 0 42 15 35.7 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 0.949944321 0.949944321 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 5765143 A G - - - - - - 28 0 0 34 10 29.4 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.843330754 0.843330754 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 5953619 C T - - - - - - 30 0 0 30 7 23.3 33 13 39.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.668353965 0.668353965 1 1.361011136 1.361011136 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 6228406 C G - - - - - - 20 0 0 25 6 24 19 5 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.688433269 0.688433269 1 0.908492205 0.908492205 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 6237745 C G - - - - - - 30 0 0 31 15 48.4 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.388340426 1.388340426 1 1.008668151 1.008668151 1 NA NA 1 NA NA 1 5 NA 1 1 8.51E-27 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 6518926 C T - - - - - - 21 0 0 27 10 37 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 6613518 G A NSUN2 CCDS3869.1 r.? - - intronic 38 0 0 22 7 31.8 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 6756906 G A PAPD7 CCDS3871.1 r.3606g>a c.? p.? 3'UTR variant 34 0 0 29 11 37.9 24 9 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 6887299 A T - - - - - - 39 0 0 31 14 45.2 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.296549323 1.296549323 1 0.576875278 0.576875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.49E-24 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 6998129 A G - - - - - - 35 0 0 21 5 23.8 38 16 42.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.682696325 0.682696325 1 1.454278396 1.454278396 1 NA NA 1 NA NA 1 5 NA 1 1 5.95E-08 1 3.06E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 7333426 G A - - - - - - 30 0 0 28 9 32.1 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.920779497 0.920779497 1 1.001759465 1.001759465 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 8077237 T A - - - - - - 43 0 0 31 8 25.8 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.740065764 0.740065764 1 1.001759465 1.001759465 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 8280039 C G - - - - - - 39 0 0 25 8 32 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 1.008668151 1.008668151 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 8579105 T A - - - - - - 24 0 0 28 6 21.4 31 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.613852998 0.613852998 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.36E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 8844869 G T - - - - - - 37 0 0 30 8 26.7 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 0.915400891 0.915400891 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 8905717 C A - - - - - - 44 0 0 37 12 32.4 26 11 42.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 1.461187082 1.461187082 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 3.52E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 9418781 T C SEMA5A CCDS3875.1 r.? - - intronic 29 0 0 27 12 44.4 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.273601547 1.273601547 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-21 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 9428731 G C SEMA5A CCDS3875.1 r.? - - intronic 36 0 0 25 5 20 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0.639053452 0.639053452 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000153 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 9792611 C A - - - - - - 36 0 0 29 9 31 32 13 40.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 1.402463252 1.402463252 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 9968252 T G - - - - - - 47 0 0 23 9 39.1 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 1.008668151 1.008668151 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 10440688 A C ROPN1L CCDS3879.1 r.? - - upstream 35 1 2.9 32 11 34.4 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.986754352 0.986754352 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 0.16091139 1 5.72E-18 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 10485658 G C - - - - - - 33 0 0 19 7 36.8 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.055597679 1.055597679 1 0.835951002 0.835951002 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-12 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 10797322 G C - - - - - - 48 0 0 36 14 38.9 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.11583559 1.11583559 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 11530602 G C CTNND2 CCDS3881.1 r.? - - intronic 32 0 0 32 14 43.8 21 7 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.256390716 1.256390716 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 8.54E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 12387183 G T - - - - - - 25 1 4 30 8 26.7 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 0.732320713 0.732320713 1 NA NA 1 NA NA 1 5 NA 0.117779757 1 2.07E-12 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 12457848 A T - - - - - - 36 0 0 29 12 41.4 46 13 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 0.977579065 0.977579065 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 12899427 A C - - - - - - 36 0 0 24 7 29.2 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 13032753 A G - - - - - - 25 0 0 33 12 36.4 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 1.202111359 1.202111359 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 13082698 C G - - - - - - 42 0 0 23 14 60.9 34 16 47.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.74689942 1.74689942 1 1.626995546 1.626995546 1 NA NA 1 NA NA 1 5 NA 1 1 4.78E-27 1 3.09E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 13160673 T A - - - - - - 38 0 0 33 11 33.3 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 13334904 T G - - - - - - 29 0 0 28 4 14.3 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.410191489 0.410191489 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000116 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 13362839 G A - - - - - - 41 0 0 26 11 42.3 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 13628984 T G - - - - - - 39 0 0 41 13 31.7 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.909305609 0.909305609 1 1.267743875 1.267743875 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 13862963 A G DNAH5 CCDS3882.1 r.? - - intronic 30 0 0 34 11 32.4 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 13918587 G A DNAH5 CCDS3882.1 r.? - - intronic 22 0 0 16 8 50 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-15 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 15556869 C T FBXL7 ENST00000504595 r.? - - intronic 29 0 0 27 10 37 32 14 43.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 1.513002227 1.513002227 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 2.65E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 15703293 T C FBXL7 ENST00000504595 r.? - - intronic 28 0 0 28 10 35.7 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 16246365 G T - - - - - - 23 0 0 20 7 35 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.003965184 1.003965184 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-12 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 16594064 C G FAM134B CCDS43304.1 r.? - - intronic 41 0 0 27 10 37 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 16840951 T A MYO10 ENST00000427430 r.? - - intronic 28 0 0 33 14 42.4 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.216232108 1.216232108 1 0.970670379 0.970670379 1 NA NA 1 NA NA 1 5 NA 1 1 4.57E-24 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 16962466 C A - - - - - - 18 0 0 26 10 38.5 19 8 42.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 1.454278396 1.454278396 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 2.81E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 17131419 G C - - - - - - 29 0 0 31 8 25.8 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.740065764 0.740065764 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 17302034 T G - - - - - - 23 0 0 28 12 42.9 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 17872426 T C - - - - - - 30 1 3.3 23 10 43.5 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.2477853 1.2477853 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 0.139615808 1 1.05E-17 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 18308301 T C - - - - - - 29 0 0 30 6 20 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0.476699332 0.476699332 1 NA NA 1 NA NA 1 5 NA 1 1 8.37E-09 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 18348115 G A - - - - - - 39 0 0 26 9 34.6 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 18782770 G A - - - - - - 25 0 0 33 12 36.4 22 10 45.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 1.571726058 1.571726058 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 5.98E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 19205656 T G - - - - - - 42 0 0 28 8 28.6 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 19462220 A G - - - - - - 37 0 0 23 8 34.8 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 1.357556793 1.357556793 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 19496589 G A CDH18 CCDS3652.1 r.? - - intronic 33 0 0 35 6 17.1 22 1 4.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.490508704 0.490508704 1 0.155445434 0.155445434 1 NA NA 1 NA NA 1 3 NA 1 1 2.24E-08 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 19517798 C T CDH18 CCDS3652.1 r.? - - intronic 46 0 0 40 11 27.5 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.788829787 0.788829787 1 0.639053452 0.639053452 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 19565856 T G CDH18 CCDS3652.1 r.? - - intronic 37 0 0 21 7 33.3 37 4 10.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.373069042 0.373069042 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-12 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 20156154 C A CDH18 CCDS3652.1 r.? - - intronic 36 0 0 30 10 33.3 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 20524491 A G CDH18 CCDS3652.1 r.? - - intronic 35 0 0 30 7 23.3 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.668353965 0.668353965 1 1.226291759 1.226291759 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 20554702 G A CDH18 CCDS3652.1 r.? - - intronic 56 0 0 40 12 30 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 0.732320713 0.732320713 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 21037871 A T - - - - - - 32 0 0 33 7 21.2 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.608116054 0.608116054 1 0.711594655 0.711594655 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 21100925 A C - - - - - - 45 0 0 23 9 39.1 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 0.839405345 0.839405345 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 21165560 T C - - - - - - 27 0 0 35 20 57.1 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.637897485 1.637897485 1 1.202111359 1.202111359 1 NA NA 1 NA NA 1 5 NA 1 1 2.88E-37 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 22374215 T C CDH12 CCDS3890.1 r.? - - intronic 27 0 0 42 15 35.7 20 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 23063776 G C - - - - - - 33 0 0 31 8 25.8 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.740065764 0.740065764 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 23073105 C A - - - - - - 42 0 0 20 7 35 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.003965184 1.003965184 1 0.756501114 0.756501114 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-12 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 23385316 C T - - - - - - 38 0 0 34 17 50 22 4 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-30 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 23496306 G A - - - - - - 51 0 0 25 10 40 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 24330921 C A - - - - - - 35 0 0 32 15 46.9 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.345313346 1.345313346 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 1.59E-26 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 24521657 G T CDH10 CCDS3892.1 r.? - - intronic 36 0 0 36 13 36.1 20 7 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.035518375 1.035518375 1 1.209020045 1.209020045 1 NA NA 1 NA NA 1 5 NA 1 1 2.53E-21 1 5.72E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 24662371 C G - - - - - - 37 0 0 40 21 52.5 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.505947776 1.505947776 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-38 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 24848261 C T - - - - - - 29 0 0 35 9 25.7 21 4 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.737197292 0.737197292 1 0.656325167 0.656325167 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 24979866 A T - - - - - - 35 0 0 27 8 29.6 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 25200237 A T - - - - - - 22 0 0 30 14 46.7 7 2 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.339576402 1.339576402 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 8.24E-25 1 0.000516315 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 25348930 T C - - - - - - 42 0 0 26 13 50 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.008668151 1.008668151 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-23 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 25395957 C G - - - - - - 30 0 0 38 11 28.9 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.828988395 0.828988395 1 0.832496659 0.832496659 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 25638235 T G - - - - - - 33 0 0 33 18 54.5 31 22 71 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.389629924 1.838948474 1 1 0 0 0.610370076 0.161051526 2 2 0 0 0.389629924 0.838948474 1.775665523 1.277797414 1.389629924 3.048236935 1.657597795 1.838948474 NA NA 0 NA NA 0 5 NA 1 1 3.68E-33 1 4.6E-44 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 25861304 C T - - - - - - 34 0 0 27 11 40.7 40 19 47.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.389629924 1.838948474 1 1 0 0 0.610370076 0.161051526 2 2 0 0 0.389629924 0.838948474 1.326047464 1.326047464 1 2.039313443 1.108956271 1.838948474 NA NA 0 NA NA 0 5 NA 1 1 5.92E-19 1 2.27E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 26016145 C T - - - - - - 39 0 0 39 18 46.2 31 13 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.389629924 1.838948474 1 1 0 0 0.610370076 0.161051526 2 2 0 0 0.389629924 0.838948474 1.505243067 1.083197074 1.389629924 1.798889121 0.978216164 1.838948474 NA NA 0 NA NA 0 5 NA 1 1 2.15E-31 1 2.32E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 26025204 T C - - - - - - 36 0 0 21 11 52.4 36 19 52.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.389629924 1.838948474 1 1 0 0 0.610370076 0.161051526 2 2 0 0 0.389629924 0.838948474 1.707245384 1.228561183 1.389629924 2.26685789 1.232692445 1.838948474 NA NA 0 NA NA 0 5 NA 1 1 1.64E-20 1 1.51E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 26753950 G T - - - - - - 29 0 0 24 14 58.3 31 13 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.389629924 1.838948474 1 1 0 0 0.610370076 0.161051526 2 2 0 0 0.389629924 0.838948474 1.899473395 1.366891546 1.389629924 1.798889121 0.978216164 1.838948474 NA NA 0 NA NA 0 5 NA 1 1 1.14E-26 1 2.32E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 27160598 G C - - - - - - 37 0 0 38 13 34.2 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.389629924 1.838948474 1 1 0 0 0.610370076 0.161051526 2 2 0 0 0.389629924 0.838948474 1.114270842 1.114270842 1 1.476892262 1.476892262 1 NA NA 0 NA NA 0 5 NA 1 1 5.88E-21 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 27374009 G A - - - - - - 39 0 0 41 14 34.1 48 22 45.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.389629924 1.838948474 1 1 0 0 0.610370076 0.161051526 2 2 0 0 0.389629924 0.838948474 1.11101274 1.11101274 1 1.966327488 1.06926731 1.838948474 NA NA 0 NA NA 0 5 NA 1 1 1.9E-22 1 5.76E-38 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 27783181 G C - - - - - - 35 0 0 36 5 13.9 40 2 5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.389629924 1.838948474 1 1 0 0 0.610370076 0.161051526 2 2 0 0 0.389629924 0.838948474 0.452876161 1.16232387 0.389629924 0.214664573 0.214664573 1 NA NA 0 NA NA 0 5 NA 1 1 0.00000104 1 0.017193422 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 27819099 A G - - - - - - 58 0 0 34 15 44.1 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.389629924 1.838948474 1 1 0 0 0.610370076 0.161051526 2 2 0 0 0.389629924 0.838948474 1.436822928 1.436822928 1 1.47259897 1.47259897 1 NA NA 0 NA NA 0 5 NA 1 1 5.18E-26 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 27957824 T A - - - - - - 32 0 0 41 20 48.8 35 18 51.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.389629924 1.838948474 1 1 0 0 0.610370076 0.161051526 2 2 0 0 0.389629924 0.838948474 1.589953716 1.144156217 1.389629924 2.206751809 1.200007418 1.838948474 NA NA 0 NA NA 0 5 NA 1 1 2.32E-35 1 1.6E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 28014935 G C - - - - - - 29 0 0 31 11 35.5 37 18 48.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.389629924 1.838948474 1 1 0 0 0.610370076 0.161051526 2 2 0 0 0.389629924 0.838948474 1.156626167 1.156626167 1 2.086539649 1.134637364 1.838948474 NA NA 0 NA NA 0 5 NA 1 1 3.77E-18 1 6.16E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 28419170 T A - - - - - - 40 0 0 42 19 45.2 34 16 47.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.389629924 1.838948474 1 1 0 0 0.610370076 0.161051526 2 2 0 0 0.389629924 0.838948474 1.472662049 1.05975125 1.389629924 2.022140277 1.099617692 1.838948474 NA NA 0 NA NA 0 5 NA 1 1 7.64E-33 1 3.09E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 28431642 C G - - - - - - 39 0 0 29 12 41.4 27 10 37 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1.389629924 1.838948474 1 1 0 0 0.610370076 0.161051526 2 2 0 0 0.389629924 0.838948474 1.348854177 1.348854177 1 1.588517839 1.588517839 1 NA NA 0 NA NA 0 5 NA 1 1 1.17E-20 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 28537685 G T - - - - - - 31 0 0 42 21 50 38 18 47.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.389629924 1.838948474 1 1 0 0 0.610370076 0.161051526 2 2 0 0 0.389629924 0.838948474 1.629050939 1.172291206 1.389629924 2.035020151 1.106621627 1.838948474 NA NA 0 NA NA 0 5 NA 1 1 2.32E-37 1 1.16E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 29380948 G T - - - - - - 47 0 0 36 14 38.9 43 16 37.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.11583559 1.11583559 1 1.28501559 1.28501559 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 3.56E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 30125540 A T - - - - - - 40 0 0 21 8 38.1 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.092887814 1.092887814 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 7.5E-14 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 30458609 C A - - - - - - 21 0 0 17 7 41.2 23 11 47.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.181810445 1.181810445 1 1.651175947 1.651175947 1 NA NA 1 NA NA 1 5 NA 1 1 1.45E-12 1 6.25E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 30623976 A C - - - - - - 50 0 0 25 4 16 28 1 3.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.458955513 0.458955513 1 0.124356347 0.124356347 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000727 1 0.130947004 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 30897971 C T - - - - - - 32 0 0 21 11 52.4 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.503079304 1.503079304 1 1.267743875 1.267743875 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-20 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 30986371 G T - - - - - - 44 0 0 31 13 41.9 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 0.746138085 0.746138085 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 31000111 A T - - - - - - 37 0 0 42 15 35.7 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 31292778 A C CDH6 CCDS3894.1 r.? - - intronic 31 0 0 22 5 22.7 19 5 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.651143133 0.651143133 1 0.908492205 0.908492205 1 NA NA 1 NA NA 1 5 NA 1 1 7.67E-08 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 31746284 C T PDZD2 CCDS34137.1 r.? - - intronic 37 0 0 29 7 24.1 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.691301741 0.691301741 1 1.219383073 1.219383073 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 32521264 C T - - - - - - 35 0 0 29 12 41.4 28 10 35.7 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 32637287 G A - - - - - - 34 0 0 36 8 22.2 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.318485523 1.318485523 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 32814520 T G - - - - - - 40 0 0 47 13 27.7 42 14 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.071566731 1.071566731 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-19 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 32859432 G C - - - - - - 42 0 0 43 12 27.9 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 33164772 T A - - - - - - 32 0 0 50 16 32 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.237911025 1.237911025 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 6.4E-25 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 33164781 G A - - - - - - 36 0 0 50 17 34 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.315280464 1.315280464 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 6.43E-27 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 34569171 C T - - - - - - 25 0 0 38 11 28.9 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 34654661 C G RAI14 CCDS34142.1 r.? - - upstream 35 0 0 43 16 37.2 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.439071567 1.439071567 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 3.56E-26 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 34829308 T A RAI14 CCDS34142.1 r.? - - intronic 34 0 0 43 11 25.6 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 35218908 C T PRLR CCDS3909.1 r.? - - intronic 40 0 0 53 15 28.3 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.094777563 1.094777563 1 0.779510022 0.779510022 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-22 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 35771560 T C SPEF2 CCDS43309.1 r.? - - intronic 26 0 0 38 6 15.8 54 8 14.8 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.611218569 0.611218569 1 0.659242762 0.659242762 1 0 0 1 NA NA 1 5 NA 1 1 3.76E-08 1 3.31E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 35788180 T G SPEF2 CCDS43309.1 r.? - - intronic 42 0 0 51 15 29.4 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 8.22E-23 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 36356160 T C - - - - - - 37 0 0 44 11 25 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 36703521 C T - - - - - - 38 0 0 42 12 28.6 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 36767903 G C - - - - - - 33 0 0 33 10 30.3 49 11 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 0.997772829 0.997772829 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 37027751 C T NIPBL CCDS3920.1 r.? - - intronic 27 0 0 32 11 34.4 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.330754352 1.330754352 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 37226375 A C C5orf42 ENST00000508244 r.? - - intronic 41 0 0 35 8 22.9 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 37376274 C G NUP155 CCDS3921.1 r.? - - upstream 34 0 0 39 10 25.6 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.828507795 0.828507795 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 38038568 C T - - - - - - 29 0 0 39 7 17.9 52 15 28.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.28285078 1.28285078 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 1.15E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 38320209 G T EGFLAM CCDS3924.1 r.? - - intronic 28 0 0 40 12 30 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 38617204 A C - - - - - - 51 0 0 42 5 11.9 23 3 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.460348162 0.460348162 1 0.579064588 0.579064588 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000228 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 39475141 A T - - - - - - 26 0 0 28 5 17.9 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000279 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 40021009 C G - - - - - - 37 0 0 41 8 19.5 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.754352031 0.754352031 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 40068236 G T - - - - - - 25 0 0 31 6 19.4 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-08 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 40169041 C T - - - - - - 38 0 0 32 8 25 44 10 22.7 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.011135857 1.011135857 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 40444105 A G - - - - - - 33 0 0 40 11 27.5 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 41156338 T G C6 CCDS3936.1 r.? - - intronic 42 0 0 34 8 23.5 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 41174168 G A C6 CCDS3936.1 r.? - - intronic 45 0 0 34 9 26.5 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 41189461 A T C6 CCDS3936.1 r.? - - intronic 39 0 0 37 10 27 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 41360650 G T PLCXD3 CCDS34150.1 r.? - - intronic 26 0 0 43 11 25.6 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 41404215 G T PLCXD3 CCDS34150.1 r.? - - intronic 35 0 0 39 12 30.8 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 41470673 G A PLCXD3 CCDS34150.1 r.? - - intronic 38 0 0 39 13 33.3 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 41521166 A C - - - - - - 39 0 0 37 7 18.9 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 41834871 A T OXCT1 CCDS3937.1 r.? - - intronic 39 0 0 42 13 31 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 2.72E-20 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 41976639 G T - - - - - - 34 0 0 46 9 19.6 39 9 23.1 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 1.028953229 1.028953229 1 NA NA 1 0 0 1 5 NA 1 1 1.82E-12 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 42348655 G A - - - - - - 49 0 0 40 14 35 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.353965184 1.353965184 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-22 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 42686108 A C GHR CCDS3940.1 r.? - - intronic 35 0 0 49 20 40.8 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.578336557 1.578336557 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-33 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 42709208 C A GHR CCDS3940.1 r.? - - intronic 37 0 0 39 11 28.2 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 42777442 G T CCDC152 CCDS47203.1 r.? - - intronic 35 0 0 30 7 23.3 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 43031389 C T - - - - - - 19 0 0 28 10 35.7 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.381044487 1.381044487 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 43422823 T C - - - - - - 28 0 0 55 13 23.6 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.912959381 0.912959381 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 1.46E-18 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 43509675 A T C5orf34 ENST00000306862 r.? - - intronic 35 0 0 33 12 36.4 49 7 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.408123791 1.408123791 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 43822861 A T - - - - - - 32 0 0 42 8 19 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.735009671 0.735009671 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 43908308 G T - - - - - - 35 0 0 42 10 23.8 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 44101433 A T - - - - - - 36 0 0 44 8 18.2 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 0.843852442 0.843852442 1 0.954510022 0.954510022 1 NA NA 0 NA NA 1 5 NA 1 1 5.9E-11 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 44103720 A T - - - - - - 33 0 0 45 7 15.6 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 0.723302093 0.723302093 1 1.363585746 1.363585746 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000003 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 44111388 G T - - - - - - 39 0 0 41 13 31.7 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 1.469786945 1.469786945 1 0.938146993 0.938146993 1 NA NA 0 NA NA 1 5 NA 1 1 1.89E-20 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 44151016 C G - - - - - - 35 0 0 43 13 30.2 44 8 18.2 113 0 0 69 6 8.7 68 31 45.6 TRUE TRUE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 1.400238667 1.400238667 1 0.992690423 0.992690423 1 0.403380013 0.525179739 0.768079923 2.487180401 1.2435902 2 5 4 1 1 3.88E-20 0.00000143 5.9E-11 8.53E-53 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 5 44151041 C T - - - - - - 32 0 0 37 10 27 41 6 14.6 112 0 0 80 6 7.5 77 32 41.6 TRUE TRUE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 1.251869007 1.251869007 1 0.796334076 0.796334076 1 0.347741391 0.347741391 1 2.269006682 1.134503341 2 5 4 1 1 3.01E-15 0.00000342 6.05E-08 8.63E-53 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 5 44215779 C A - - - - - - 19 0 0 35 8 22.9 45 4 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 1.06177038 1.06177038 1 0.485436526 0.485436526 1 NA NA 0 NA NA 1 5 NA 1 1 8.15E-12 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 44378894 C T FGF10 CCDS3950.1 r.? - - intronic 24 0 0 59 14 23.7 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 1.098862795 1.098862795 1 1.167229399 1.167229399 1 NA NA 0 NA NA 1 5 NA 1 1 6.58E-20 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 44382278 A T FGF10 CCDS3950.1 r.? - - intronic 47 0 0 51 14 27.5 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 1.275051766 1.275051766 1 1.090868597 1.090868597 1 NA NA 0 NA NA 1 5 NA 1 1 6.64E-21 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 44395434 G T - - - - - - 30 0 0 56 9 16.1 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 0.746484852 0.746484852 1 1.521761693 1.521761693 1 NA NA 0 NA NA 1 5 NA 1 1 1.2E-11 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 44400615 A T - - - - - - 34 0 0 43 9 20.9 51 6 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 0.969039342 0.969039342 1 0.643612472 0.643612472 1 NA NA 0 NA NA 1 5 NA 1 1 9.45E-13 1 0.000000232 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 44416617 A T - - - - - - 40 0 0 49 6 12.2 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 0.565659329 0.565659329 1 1.29813363 1.29813363 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000182 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 44471052 G T - - - - - - 37 0 0 51 7 13.7 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 0.635207607 0.635207607 1 1.532670379 1.532670379 1 NA NA 0 NA NA 1 5 NA 1 1 7.46E-09 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 44495463 C G - - - - - - 43 0 0 43 15 34.9 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 1.618156605 0.915205576 1.768079923 0.763608018 0.763608018 1 NA NA 0 NA NA 1 5 NA 1 1 4.05E-24 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 44521028 A T - - - - - - 38 0 0 58 16 27.6 53 7 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 1.279688318 1.279688318 1 0.719973274 0.719973274 1 NA NA 0 NA NA 1 5 NA 1 1 1E-23 1 9.85E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 44630216 A C - - - - - - 31 0 0 46 10 21.7 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 1.006131757 1.006131757 1 1.210864143 1.210864143 1 NA NA 0 NA NA 1 5 NA 1 1 3.38E-14 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 44662674 C G - - - - - - 34 0 0 42 11 26.2 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 1.214776592 1.214776592 1 0.861786192 0.861786192 1 NA NA 0 NA NA 1 5 NA 1 1 1.81E-16 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 44787560 A C - - - - - - 41 0 0 58 13 22.4 62 11 17.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 1.03858762 1.03858762 1 0.965418708 0.965418708 1 NA NA 0 NA NA 1 5 NA 1 1 3.12E-18 1 1.96E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 44871718 C A - - - - - - 37 0 0 35 6 17.1 48 12 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 0.792850371 0.792850371 1 1.363585746 1.363585746 1 NA NA 0 NA NA 1 5 NA 1 1 2.24E-08 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 44885573 G T - - - - - - 50 1 2 35 14 40 49 10 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 1.854620751 1.048946219 1.768079923 1.112685969 1.112685969 1 NA NA 0 NA NA 1 5 NA 0.221687443 1 1.28E-23 1 6.72E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 45021334 A C - - - - - - 41 0 0 60 12 20 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 0.927310375 0.927310375 1 0.861786192 0.861786192 1 NA NA 0 NA NA 1 5 NA 1 1 2.74E-16 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 45033155 A T - - - - - - 38 0 0 54 13 24.1 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 1.117409002 1.117409002 1 0.867240535 0.867240535 1 NA NA 0 NA NA 1 5 NA 1 1 1.12E-18 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 45087147 T C - - - - - - 38 0 0 44 8 18.2 48 13 27.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 0.843852442 0.843852442 1 1.478126949 1.478126949 1 NA NA 0 NA NA 1 5 NA 1 1 5.9E-11 1 2E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 45101514 G A - - - - - - 26 0 0 50 10 20 49 13 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 0.927310375 0.927310375 1 1.445400891 1.445400891 1 NA NA 0 NA NA 1 5 NA 1 1 8.36E-14 1 2.71E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 45548849 C A HCN1 CCDS3952.1 r.? - - intronic 44 0 0 59 13 22 50 7 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 1.020041413 1.020041413 1 0.763608018 0.763608018 1 NA NA 0 NA NA 1 5 NA 1 1 3.99E-18 1 6.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 45582229 A T HCN1 CCDS3952.1 r.? - - intronic 33 0 0 50 12 24 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 1.11277245 1.11277245 1 1.014507795 1.014507795 1 NA NA 0 NA NA 1 5 NA 1 1 2.49E-17 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 45615824 G T HCN1 CCDS3952.1 r.? - - intronic 43 0 0 52 14 26.9 54 10 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 1.247232455 1.247232455 1 1.009053452 1.009053452 1 NA NA 0 NA NA 1 5 NA 1 1 9.04E-21 1 1.91E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 45723513 G A - - - - - - 53 0 0 49 12 24.5 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 1.13595521 1.13595521 1 1.15086637 1.15086637 1 NA NA 0 NA NA 1 5 NA 1 1 1.9E-17 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 45808077 C A - - - - - - 28 0 0 44 8 18.2 50 14 28 0 0 NA 0 0 NA 2 2 100 TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 0.843852442 0.843852442 1 1.527216036 1.527216036 1 NA NA 0 5.454342984 2.727171492 2 5 NA 1 1 5.9E-11 1 4.84E-21 0.000025 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 45879266 T A - - - - - - 28 0 0 58 14 24.1 39 3 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.768079923 3 1 2 1 1 0.231920077 1 2 NA 1 NA 0.768079923 NA 1.117409002 1.117409002 1 0.41998441 0.41998441 1 NA NA 0 NA NA 1 5 NA 1 1 5.04E-20 1 0.000998458 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 49598299 T A - - - - - - 30 0 0 29 9 31 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 50208447 C T - - - - - - 37 0 0 31 13 41.9 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 1.184839644 1.184839644 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 50241172 C T - - - - - - 32 0 0 25 9 36 33 12 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 50314953 G A - - - - - - 28 0 0 20 8 40 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 4.66E-14 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 50557969 T G - - - - - - 23 0 0 32 10 31.2 40 16 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 8.56E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 51621371 G A - - - - - - 33 0 0 26 15 57.7 30 12 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.655108317 1.655108317 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-28 1 1.94E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 51822834 G A - - - - - - 31 0 0 23 10 43.5 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.2477853 1.2477853 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 1.05E-17 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 51837221 A G - - - - - - 34 0 0 29 9 31 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 51975666 T C - - - - - - 41 0 0 36 12 33.3 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.538877506 0.538877506 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 52477732 C G - - - - - - 42 0 0 32 10 31.2 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 52540891 A G - - - - - - 37 0 0 24 9 37.5 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.493971047 0.493971047 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 53001425 G A - - - - - - 36 0 0 30 14 46.7 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.339576402 1.339576402 1 0.970670379 0.970670379 1 NA NA 1 NA NA 1 5 NA 1 1 8.24E-25 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 53341714 C G - - - - - - 32 0 0 21 6 28.6 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 7.95E-10 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 53398166 C G - - - - - - 43 0 0 30 10 33.3 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 53842590 A C SNX18 CCDS43317.1 r.? - - downstream 38 0 0 28 10 35.7 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 53938578 G A - - - - - - 30 0 0 29 7 24.1 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.691301741 0.691301741 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 53982915 G T - - - - - - 30 0 0 28 10 35.7 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 0.756501114 0.756501114 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 54255135 C T ENSG00000249016 ENST00000505950 r.? - - upstream 37 0 0 40 19 47.5 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.362524178 1.362524178 1 0.832496659 0.832496659 1 NA NA 1 NA NA 1 5 NA 1 1 2.27E-33 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 54792005 A T PPAP2A CCDS34159.1 r.? - - intronic 30 0 0 24 12 50 20 4 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 6.25E-22 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 55373590 G A - - - - - - 24 0 0 31 8 25.8 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.740065764 0.740065764 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 55397654 G A ANKRD55 CCDS34161.1 r.? - - intronic 36 0 0 30 5 16.7 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.479034816 0.479034816 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 55465985 T G ANKRD55 CCDS34161.1 r.? - - intronic 23 0 0 25 7 28 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 1.119207127 1.119207127 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 55695608 G A - - - - - - 28 0 0 34 14 41.2 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.181810445 1.181810445 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 7.74E-24 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 56038773 G C - - - - - - 31 0 0 22 5 22.7 19 6 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.651143133 0.651143133 1 1.091572383 1.091572383 1 NA NA 1 NA NA 1 5 NA 1 1 7.67E-08 1 4.01E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 56088717 T C - - - - - - 37 0 0 27 8 29.6 19 5 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 0.908492205 0.908492205 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 56932947 T C - - - - - - 41 0 0 35 8 22.9 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.656880077 0.656880077 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 58186124 A C - - - - - - 20 0 0 19 7 36.8 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.055597679 1.055597679 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-12 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 58435576 G T PDE4D CCDS47213.1 r.? - - intronic 34 0 0 30 9 30 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 58445715 T A PDE4D CCDS47213.1 r.? - - intronic 43 0 0 28 8 28.6 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.493971047 0.493971047 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 58640110 G T PDE4D CCDS47213.1 r.? - - intronic 30 0 0 15 4 26.7 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 1.226291759 1.226291759 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000816 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 58926105 C A PDE4D CCDS47213.1 r.? - - intronic 35 0 0 33 14 42.4 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.216232108 1.216232108 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 4.57E-24 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 59005711 A G PDE4D CCDS47213.1 r.? - - intronic 33 0 0 38 20 52.6 35 14 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.508816248 1.508816248 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 2.94E-36 1 1.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 59909121 C A DEPDC1B CCDS3977.1 r.? - - intronic 48 0 0 34 8 23.5 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.674090909 0.674090909 1 0.732320713 0.732320713 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 60874438 G T - - - - - - 35 0 0 22 7 31.8 28 13 46.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 1.602815145 1.602815145 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 4.26E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 61153299 T A - - - - - - 28 0 0 40 12 30 39 14 35.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 1.240109131 1.240109131 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 61441092 G T - - - - - - 26 0 0 31 9 29 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 61506409 T G - - - - - - 27 0 0 37 8 21.6 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.619589942 0.619589942 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 61759077 T G IPO11 CCDS34167.1 r.? - - intronic 43 0 0 27 11 40.7 34 16 47.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 1.626995546 1.626995546 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 3.09E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 62162658 C A - - - - - - 22 0 0 26 11 42.3 20 5 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 62269719 C T - - - - - - 31 0 0 26 9 34.6 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 62442475 T G - - - - - - 37 0 0 43 17 39.5 21 4 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.133046422 1.133046422 1 0.656325167 0.656325167 1 NA NA 1 NA NA 1 5 NA 1 1 2.84E-28 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 62773081 C A - - - - - - 36 0 0 26 10 38.5 34 17 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 1.727171492 1.727171492 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 1.64E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 63367430 G C - - - - - - 42 0 0 37 11 29.7 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.85193617 0.85193617 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 63661678 G C RNF180 CCDS47219.1 r.? - - intronic 32 0 0 38 7 18.4 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.527798839 0.527798839 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 64735019 G T ADAMTS6 CCDS3983.2 r.? - - intronic 42 0 0 21 12 57.1 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.637897485 1.637897485 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 6.88E-23 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 65627943 T C AC092373.1 ENST00000510964 r.? - - intronic 24 0 0 20 7 35 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.003965184 1.003965184 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-12 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 66360520 A T MAST4 CCDS47225.1 r.? - - intronic 44 0 0 30 13 43.3 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.242048356 1.242048356 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 66790751 A G - - - - - - 31 0 0 29 12 41.4 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 1.212474388 1.212474388 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 66869260 C T - - - - - - 37 0 0 34 11 32.4 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 0.55614922 0.55614922 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 67018526 T A - - - - - - 38 0 0 36 17 47.2 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.353918762 1.353918762 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 6E-30 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 67907914 A T - - - - - - 36 0 0 25 12 48 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.376866538 1.376866538 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-21 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 68187739 G T - - - - - - 31 0 0 24 7 29.2 18 7 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 1.343739421 1.343739421 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 2.37E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 68416912 G T SLC30A5 CCDS3996.1 r.? - - intronic 49 0 0 32 10 31.2 36 13 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 1.247017817 1.247017817 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 71111961 G T - - - - - - 28 0 0 32 8 25 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 71625069 G C PTCD2 CCDS4014.2 r.? - - intronic 43 0 0 34 8 23.5 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.674090909 0.674090909 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 73144222 G T ENSG00000214944 CCDS47231.1 r.? - - intronic 37 0 0 34 8 23.5 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.674090909 0.674090909 1 1.267743875 1.267743875 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 73843389 C G - - - - - - 32 0 0 36 10 27.8 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.797435203 0.797435203 1 0.53196882 0.53196882 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 73864552 G A - - - - - - 33 0 0 29 13 44.8 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.285075435 1.285075435 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 1 1 7.69E-23 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 74195980 C T - - - - - - 23 0 0 20 7 35 20 7 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.003965184 1.003965184 1 1.209020045 1.209020045 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-12 1 5.72E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 74712709 G T COL4A3BP CCDS47235.1 r.1507c>a c.1213C>A p.L405M missense 40 0 0 31 13 41.9 24 9 37.5 115 0 0 37 17 45.9 214 50 23.4 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 1.295378619 1.295378619 1 1.316628627 1.316628627 1 0.808316258 0.808316258 1 5 6 1 1 2.32E-22 1.1E-29 2.39E-15 8.56E-67 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 5 75506649 T G SV2C ENST00000502798 r.? - - intronic 49 0 0 29 8 27.6 15 3 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 0.0000544 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 75999751 G A IQGAP2 CCDS34188.1 r.? - - intronic 27 0 0 36 10 27.8 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.797435203 0.797435203 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 77639397 A T - - - - - - 37 0 0 21 9 42.9 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 0.552694878 0.552694878 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-16 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 77949426 T G LHFPL2 CCDS4042.1 r.? - - upstream 38 0 0 24 8 33.3 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-13 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 78030905 G A - - - - - - 31 0 0 26 12 46.2 23 9 39.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.325234043 1.325234043 1 1.350648107 1.350648107 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-21 1 1.5E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 78427162 G C BHMT CCDS4046.1 r.1551g>c c.? p.? 3'UTR variant 44 0 0 34 14 41.2 22 9 40.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.181810445 1.181810445 1 1.412826281 1.412826281 1 NA NA 1 NA NA 1 5 NA 1 1 7.74E-24 1 9.16E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 78621401 T G JMY CCDS4047.3 r.7405u>g c.? p.? 3'UTR variant 26 0 0 27 14 51.9 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.488736944 1.488736944 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-25 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 79663140 C T - - - - - - 30 0 0 28 13 46.4 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.330970986 1.330970986 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 4.26E-23 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 81786882 G A - - - - - - 33 0 0 31 7 22.6 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.648274662 0.648274662 1 0.604510022 0.604510022 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 82036380 C T - - - - - - 37 0 0 22 7 31.8 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 82317316 T A - - - - - - 35 0 0 32 12 37.5 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 83058874 T A - - - - - - 41 0 0 37 8 21.6 31 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.619589942 0.619589942 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.33E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 83441044 G T EDIL3 CCDS4062.1 r.? - - intronic 36 0 0 23 10 43.5 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.2477853 1.2477853 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.05E-17 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 83473603 T A EDIL3 CCDS4062.1 r.? - - intronic 46 0 0 34 7 20.6 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.590905222 0.590905222 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 83675951 G C EDIL3 CCDS4062.1 r.? - - intronic 36 0 0 25 6 24 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.688433269 0.688433269 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 83876062 A T - - - - - - 28 0 0 34 10 29.4 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.843330754 0.843330754 1 0.756501114 0.756501114 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 83932452 G C - - - - - - 41 0 0 26 10 38.5 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 84156305 G A - - - - - - 41 0 0 28 14 50 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.29E-25 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 87283118 C T - - - - - - 33 0 0 21 7 33.3 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-12 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 87332342 A G - - - - - - 21 0 0 31 13 41.9 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 87595353 C G - - - - - - 24 0 0 35 14 40 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.732320713 0.732320713 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-23 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 87691514 G T - - - - - - 39 0 0 28 8 28.6 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 88207960 C T - - - - - - 30 0 0 28 6 21.4 33 14 42.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.613852998 0.613852998 1 1.464641425 1.464641425 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 4.57E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 88263518 G T - - - - - - 20 0 0 33 10 30.3 32 9 28.1 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 0.970670379 0.970670379 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 88831298 T G - - - - - - 38 0 0 18 4 22.2 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.636800774 0.636800774 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000181 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 89561282 T G - - - - - - 34 0 0 23 6 26.1 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.74867118 0.74867118 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-09 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 89873801 G T GPR98 CCDS47246.1 r.? - - intronic 44 0 0 34 11 32.4 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 90625639 A C - - - - - - 31 0 0 31 9 29 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 0.552694878 0.552694878 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 90903331 T C - - - - - - 44 0 0 31 9 29 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 90947999 A T - - - - - - 38 0 0 25 10 40 17 7 41.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.42318931 1.42318931 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 1.45E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 91251665 G T - - - - - - 25 0 0 23 5 21.7 23 3 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.622458414 0.622458414 1 0.449064588 0.449064588 1 NA NA 1 NA NA 1 5 NA 1 1 9.75E-08 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 91351269 A G - - - - - - 36 0 0 30 10 33.3 21 7 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 8.54E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 91687707 A G - - - - - - 35 0 0 31 10 32.3 24 10 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 1.440461024 1.440461024 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 1.8E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 91993046 T A - - - - - - 39 0 0 39 15 38.5 26 14 53.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 1.858436526 1.858436526 1 NA NA 1 NA NA 1 5 NA 1 1 6.85E-25 1 5.57E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 92291154 A G - - - - - - 32 0 0 30 12 40 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.718503341 0.718503341 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 93841887 A T C5orf36 ENST00000513200 r.? - - intronic 35 0 0 32 6 18.8 43 2 4.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.539272727 0.539272727 1 0.16235412 0.16235412 1 NA NA 1 NA NA 1 3 NA 1 1 1.27E-08 1 0.019709573 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 94436134 G T MCTP1 ENST00000515393 r.? - - intronic 37 0 0 26 12 46.2 31 3 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.325234043 1.325234043 1 0.335071269 0.335071269 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-21 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 94728419 C A FAM81B CCDS43341.1 r.? - - intronic 21 0 0 34 11 32.4 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 95405674 A C - - - - - - 30 0 0 24 8 33.3 25 11 44 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.519910913 1.519910913 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-13 1 2.04E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 95494294 T A - - - - - - 33 0 0 28 12 42.9 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 95980585 C A CAST CCDS43257.1 r.? - - intronic 27 0 0 29 8 27.6 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 96145573 T C ERAP1 CCDS4085.1 r.? - - upstream 43 0 0 33 14 42.4 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.216232108 1.216232108 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 4.57E-24 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 96169106 T A ENSG00000247121 ENST00000504056 r.? - - intronic 23 0 0 42 20 47.6 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.36539265 1.36539265 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 4.41E-35 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 97674315 C G - - - - - - 47 0 0 13 7 53.8 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.543237911 1.543237911 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.31E-13 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 98314370 C T - - - - - - 33 0 0 29 12 41.4 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.187547389 1.187547389 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 99077704 T A - - - - - - 43 0 0 33 14 42.4 29 11 37.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.216232108 1.216232108 1 1.309195991 1.309195991 1 NA NA 1 NA NA 1 5 NA 1 1 4.57E-24 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 100546934 C A - - - - - - 31 0 0 21 5 23.8 20 8 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.682696325 0.682696325 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 5.95E-08 1 4.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 100659903 C T - - - - - - 39 0 0 28 8 28.6 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.749592428 0.749592428 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 100859852 G A - - - - - - 39 0 0 26 10 38.5 22 4 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 101142636 A G - - - - - - 22 0 0 40 18 45 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.290812379 1.290812379 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 3.9E-31 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 101358313 C G - - - - - - 27 0 0 23 7 30.4 25 9 36 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.872015474 0.872015474 1 1.243563474 1.243563474 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-11 1 3.71E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 101510109 T A - - - - - - 22 0 0 20 4 20 38 18 47.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 1.637358575 1.637358575 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000284 1 1.16E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 101684599 T C - - - - - - 36 0 0 27 8 29.6 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 104143496 T A ENSG00000232402 ENST00000438939 r.? - - intronic 31 0 0 19 4 21.1 22 7 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.605247582 0.605247582 1 1.098481069 1.098481069 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000228 1 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 106431217 A C - - - - - - 39 0 0 19 5 26.3 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.754408124 0.754408124 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 1 1 3.43E-08 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 106923729 G A EFNA5 CCDS4097.1 r.? - - intronic 40 0 0 30 12 40 20 6 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 5.7E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 107698107 T A FBXL17 ENST00000359660 r.? - - intronic 47 0 0 22 4 18.2 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 1.181385301 1.181385301 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000425 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 107804648 A C - - - - - - 28 0 0 20 10 50 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.008668151 1.008668151 1 NA NA 1 NA NA 1 5 NA 1 1 1.72E-18 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 107827395 T C - - - - - - 26 0 0 35 12 34.3 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.98388588 0.98388588 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 107957349 G A - - - - - - 30 0 0 31 12 38.7 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.110098646 1.110098646 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 108067153 G A AC034207.1 ENST00000500295 r.? - - downstream 35 0 0 37 15 40.5 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.161731141 1.161731141 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 2.58E-25 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 108783256 G C - - - - - - 33 0 0 37 15 40.5 38 16 42.1 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.161731141 1.161731141 1 1.454278396 1.454278396 1 NA NA 1 NA NA 1 5 NA 1 1 2.58E-25 1 3.06E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 108899231 T C - - - - - - 32 0 0 33 15 45.5 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.91E-26 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 108924993 C T - - - - - - 40 0 0 30 11 36.7 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 0.670142539 0.670142539 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 110054658 T A TMEM232 CCDS47253.1 r.? - - intronic 20 0 0 30 6 20 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 8.37E-09 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 110497049 C T - - - - - - 30 0 0 25 10 40 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.219383073 1.219383073 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 110558221 G A CAMK4 CCDS4103.1 r.? - - upstream 30 0 0 18 8 44.4 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.273601547 1.273601547 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-14 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 111122002 G A C5orf13 CCDS47255.1 r.? - - intronic 35 0 0 35 12 34.3 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.98388588 0.98388588 1 0.417975501 0.417975501 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 111268676 T C C5orf13 CCDS47255.1 r.? - - intronic 38 0 0 23 8 34.8 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 0.639053452 0.639053452 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 111290933 T A C5orf13 CCDS47255.1 r.? - - intronic 41 0 0 24 10 41.7 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 1.8E-17 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 111489084 G A EPB41L4A ENST00000359109 r.? - - intronic 38 0 0 28 7 25 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 111765376 C G - - - - - - 40 0 0 22 7 31.8 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 1.212474388 1.212474388 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 111965664 G A - - - - - - 25 0 0 34 10 29.4 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.843330754 0.843330754 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 112551738 C T MCC CCDS4111.1 r.? - - intronic 31 0 0 31 11 35.5 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 112816129 T G MCC CCDS43351.1 r.? - - intronic 32 0 0 26 11 42.3 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 112845314 A G YTHDC2 CCDS4113.1 r.? - - upstream 31 0 0 27 9 33.3 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.818679287 0.818679287 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 113116702 C A - - - - - - 34 0 0 38 14 36.8 22 4 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.055597679 1.055597679 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 113420868 G A - - - - - - 32 0 0 24 9 37.5 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 113749879 G T KCNN2 CCDS43352.1 r.? - - intronic 34 0 0 36 11 30.6 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.877752418 0.877752418 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 114092565 C A - - - - - - 43 0 0 32 6 18.8 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.539272727 0.539272727 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 114797652 G T - - - - - - 33 0 0 39 14 35.9 21 9 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.029781431 1.029781431 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 5.44E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 115816530 C T SEMA6A CCDS47256.1 r.? - - intronic 36 0 0 22 11 50 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 3.27E-20 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 116405202 C G - - - - - - 44 0 0 36 17 47.2 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.353918762 1.353918762 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 6E-30 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 116508427 C A - - - - - - 25 0 0 34 15 44.1 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.264996132 1.264996132 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-26 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 118603426 G T TNFAIP8 CCDS47257.1 r.? - - upstream 29 0 0 36 15 41.7 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-25 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 118642184 G A TNFAIP8 CCDS47257.1 r.? - - intronic 33 0 0 32 15 46.9 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.345313346 1.345313346 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 1.59E-26 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 119079870 T G - - - - - - 24 0 0 28 20 71.4 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 2.048088975 2.048088975 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 2.85E-40 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 119207734 C T - - - - - - 45 0 0 34 10 29.4 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.843330754 0.843330754 1 0.576875278 0.576875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 119242375 C A - - - - - - 38 0 0 20 8 40 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.119207127 1.119207127 1 NA NA 1 NA NA 1 5 NA 1 1 4.66E-14 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 119557508 A T - - - - - - 40 1 2.5 24 9 37.5 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.915400891 0.915400891 1 NA NA 1 NA NA 1 5 NA 0.181679879 1 2.39E-15 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 119606738 G C - - - - - - 37 0 0 32 10 31.2 39 15 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 6.85E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 119780213 A T - - - - - - 34 0 0 28 11 39.3 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.127309478 1.127309478 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 120172634 A T - - - - - - 33 0 0 19 4 21.1 11 2 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.605247582 0.605247582 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000228 1 0.001334363 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 121061470 G A - - - - - - 23 0 0 19 8 42.1 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.207626692 1.207626692 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 2.81E-14 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 121543882 A C - - - - - - 35 0 0 26 14 53.8 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.543237911 1.543237911 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 5.57E-26 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 121746608 T A SNCAIP CCDS4131.1 r.? - - intronic 30 0 0 45 19 42.2 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.210495164 1.210495164 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 4.11E-32 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 122785697 G T - - - - - - 39 0 0 35 11 31.4 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.900700193 0.900700193 1 1.226291759 1.226291759 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 123308198 G A - - - - - - 36 0 0 34 12 35.3 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.0125706 1.0125706 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 124014025 G A ZNF608 CCDS34219.1 r.? - - intronic 32 0 0 32 11 34.4 41 17 41.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.986754352 0.986754352 1 1.433552339 1.433552339 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 1.03E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 124294968 G A - - - - - - 33 0 0 31 7 22.6 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.648274662 0.648274662 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 124886041 G C - - - - - - 27 0 0 39 13 33.3 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.718503341 0.718503341 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 125670076 A T - - - - - - 42 0 0 29 8 27.6 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 126977629 A T - - - - - - 44 0 0 25 8 32 19 7 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 1.271198218 1.271198218 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 3.73E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 127295251 G A - - - - - - 25 0 0 27 11 40.7 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 1.084663697 1.084663697 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 127718537 A G FBN2 CCDS34222.1 r.? - - intronic 30 0 0 34 9 26.5 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.760145068 0.760145068 1 0.59069265 0.59069265 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 127756112 G A FBN2 CCDS34222.1 r.? - - intronic 38 0 0 29 11 37.9 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 128770905 A T - - - - - - 35 0 0 30 12 40 18 10 55.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.920614699 1.920614699 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 4.12E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 129429984 A T CHSY3 CCDS34223.1 r.? - - intronic 40 0 0 26 15 57.7 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.655108317 1.655108317 1 0.832496659 0.832496659 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-28 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 130875429 G A RAPGEF6 ENST00000509018 r.? - - intronic 37 0 0 29 14 48.3 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.385471954 1.385471954 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 4.41E-25 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 131178224 T G - - - - - - 38 0 0 26 12 46.2 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.325234043 1.325234043 1 0.842859688 0.842859688 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-21 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 131180593 G A - - - - - - 44 0 0 26 10 38.5 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 1.336830735 1.336830735 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 131238138 A G - - - - - - 29 0 0 30 15 50 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.084663697 1.084663697 1 NA NA 1 NA NA 1 5 NA 1 1 4.41E-27 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 131463501 C T - - - - - - 34 0 0 43 18 41.9 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 2.06E-30 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 132242132 T A AFF4 CCDS4164.1 r.? - - intronic 35 0 0 21 8 38.1 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.092887814 1.092887814 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 7.5E-14 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 132245031 C T AFF4 CCDS4164.1 r.? - - intronic 22 0 0 16 6 37.5 16 4 25 0 0 NA 1 0 0 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.863585746 0.863585746 1 0 0 1 NA NA 1 5 NA 1 1 1.2E-10 1 0.00000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 132376298 G A - - - - - - 24 0 0 30 12 40 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.357556793 1.357556793 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 132740611 C T FSTL4 CCDS34238.1 r.? - - intronic 34 0 0 18 5 27.8 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.797435203 0.797435203 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-08 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 134539165 A G - - - - - - 31 0 0 23 8 34.8 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 0.832496659 0.832496659 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 135154357 G T - - - - - - 37 0 0 20 9 45 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.290812379 1.290812379 1 0.905037862 0.905037862 1 NA NA 1 NA NA 1 5 NA 1 1 3.12E-16 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 135167818 C G ENSG00000145832 CCDS43366.2 r.? - - upstream 18 0 0 26 9 34.6 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 135351020 G A - - - - - - 38 0 0 31 10 32.3 15 2 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 0.459427617 0.459427617 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 0.002513772 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 135985262 A T - - - - - - 28 0 0 25 12 48 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.376866538 1.376866538 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-21 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 136142553 G T - - - - - - 29 0 0 21 4 19 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.545009671 0.545009671 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000349 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 136198839 T C - - - - - - 34 0 0 25 9 36 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 1.357556793 1.357556793 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 136414304 C T SPOCK1 CCDS4191.1 r.? - - intronic 34 0 0 40 13 32.5 22 10 45.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.932253385 0.932253385 1 1.571726058 1.571726058 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 5.98E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 136682777 G A SPOCK1 CCDS4191.1 r.? - - intronic 27 0 0 34 11 32.4 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 137797175 G A EGR1 CCDS4206.1 r.? - - upstream 36 0 0 32 16 50 34 18 52.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.827347439 1.827347439 1 NA NA 1 NA NA 1 5 NA 1 1 8.51E-29 1 7.79E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 137819770 C A - - - - - - 46 0 0 41 7 17.1 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.490508704 0.490508704 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 137895055 G T HSPA9 CCDS4208.1 r.? - - intronic 31 0 0 29 15 51.7 19 5 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.483 1.483 1 0.908492205 0.908492205 1 NA NA 1 NA NA 1 5 NA 1 1 2.22E-27 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 137932936 C A - - - - - - 24 0 0 33 9 27.3 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 138150050 G T CTNNA1 CCDS34243.1 r.? - - intronic 36 0 0 38 13 34.2 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.981017408 0.981017408 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 138642927 G T SNHG4 CCDS4210.1 r.159-1g>u c.? p.? 5'UTR ess splice 28 0 0 36 11 30.6 28 2 7.1 124 0 0 68 9 13.2 93 12 12.9 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 0.316258352 0.316258352 1 0.510638298 0.510638298 1 0.574610245 0.574610245 1 5 5 1 1 2.62E-17 7.38E-11 0.008668191 6.99E-14 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 5 138891668 T C - - - - - - 27 0 0 35 12 34.3 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.32688588 1.32688588 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 138946680 A C UBE2D2 CCDS47275.1 r.? - - intronic 30 0 0 33 15 45.5 35 23 65.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.760154739 0.880077369 2 2.926503341 1.46325167 2 NA NA 1 NA NA 1 5 NA 1 1 2.91E-26 1 9.39E-45 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 139343587 A C NRG2 CCDS47277.1 r.? - - intronic 37 0 0 40 12 30 39 1 2.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 0.115812918 0.115812918 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 0.177567718 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 139597128 T G C5orf32 CCDS4221.1 r.? - - intronic 41 0 0 33 9 27.3 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 139711310 C T HBEGF CCDS4223.1 r.? - - downstream 33 0 0 38 15 39.5 28 2 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.528046422 0.764023211 2 0.316258352 0.316258352 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-25 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 140189389 A T PCDHA4 CCDS34249.1 r.? - - downstream 38 0 0 39 13 33.3 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.19376392 1.19376392 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 140544883 C T - - - - - - 41 0 0 45 12 26.7 45 14 31.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 1.385300668 1.385300668 1 NA NA 1 NA NA 1 5 NA 1 1 6.03E-18 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 141141082 G A - - - - - - 18 0 0 38 14 36.8 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.423597679 1.423597679 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 141409116 G C - - - - - - 30 0 0 38 11 28.9 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 141495626 C T NDFIP1 CCDS4273.1 r.? - - intronic 26 0 0 30 11 36.7 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.419729207 1.419729207 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 141695487 G C SPRY4 CCDS4274.1 r.? - - intronic 30 0 0 47 10 21.3 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.823984526 0.823984526 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 141696486 G A SPRY4 CCDS4274.1 r.? - - intronic 36 0 0 54 19 35.2 41 3 7.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.361702128 1.361702128 1 0.325167038 0.325167038 1 NA NA 1 NA NA 1 5 NA 1 1 2.97E-30 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 141750281 C G - - - - - - 38 0 0 45 14 31.1 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.203094778 1.203094778 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 141757216 G A - - - - - - 41 0 0 48 12 25 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-17 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 141780078 C T - - - - - - 32 0 0 38 10 26.3 40 15 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 1.670378619 0.83518931 2 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 1.09E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 141920545 G C - - - - - - 25 0 0 36 9 25 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 142179240 G T ARHGAP26 CCDS47297.1 r.? - - intronic 26 0 0 49 17 34.7 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.342359768 1.342359768 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 4.26E-27 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 142512519 C G ARHGAP26 CCDS47297.1 r.? - - intronic 37 0 0 34 9 26.5 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.930957684 0.930957684 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 142806484 C G NR3C1 CCDS4278.1 r.? - - intronic 37 0 0 36 9 25 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.543429844 0.543429844 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 142847675 C A - - - - - - 39 0 0 27 5 18.5 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.715667311 0.715667311 1 1.167037862 1.167037862 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000023 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 142913881 C G - - - - - - 35 0 0 49 14 28.6 45 16 35.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.585746102 0.792873051 2 NA NA 1 NA NA 1 5 NA 1 1 3.5E-21 1 8.61E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 142982289 G C - - - - - - 40 0 0 42 8 19 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.735009671 0.735009671 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 143210650 T G - - - - - - 34 0 0 47 13 27.7 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.071566731 1.071566731 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-19 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 143286833 A T - - - - - - 39 0 0 47 12 25.5 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 143287233 A C - - - - - - 32 0 0 50 5 10 45 2 4.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.386847195 0.386847195 1 0.195991091 0.195991091 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000549 1 0.021467209 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 143433165 T A - - - - - - 45 0 0 38 7 18.4 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 143492188 C T - - - - - - 41 0 0 52 16 30.8 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-24 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 143681757 A G KCTD16 CCDS34260.1 r.? - - intronic 23 0 0 30 8 26.7 51 13 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 1.135857461 1.135857461 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 4.87E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 143775721 T C KCTD16 CCDS34260.1 r.? - - intronic 34 0 0 33 7 21.2 43 14 32.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 1.452115813 1.452115813 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 4.18E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 144064062 A C - - - - - - 50 0 0 44 12 27.3 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 144133090 G C - - - - - - 37 0 0 40 10 25 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 144281712 G T - - - - - - 32 0 0 39 9 23.1 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 144305740 C T - - - - - - 33 0 0 47 18 38.3 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.481624758 0.740812379 2 1.523385301 1.523385301 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-29 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 144305742 C G - - - - - - 34 0 0 47 18 38.3 41 14 34.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.481624758 0.740812379 2 1.518930958 1.518930958 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-29 1 1.9E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 144430890 G A - - - - - - 27 0 0 45 6 13.3 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.51450677 0.51450677 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000108 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 144447714 A G - - - - - - 29 0 0 33 6 18.2 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 145132203 T A - - - - - - 25 0 0 41 10 24.4 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.634743875 0.817371938 2 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 145766944 G C - - - - - - 38 0 0 32 5 15.6 29 2 6.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 0.307349666 0.307349666 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000562 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 145818355 C G - - - - - - 34 0 0 44 5 11.4 50 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.441005803 0.441005803 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000288 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 145847388 A T TCERG1 CCDS4282.1 r.? - - intronic 31 0 0 47 7 14.9 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.576402321 0.576402321 1 1.19376392 1.19376392 1 NA NA 1 NA NA 1 5 NA 1 1 4.12E-09 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 145924658 C G - - - - - - 30 0 0 40 27 67.5 41 19 46.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.611218569 1.305609284 2 2.062360802 1.031180401 2 NA NA 1 NA NA 1 5 NA 1 1 8.42E-53 1 4.2E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 146353923 C T PPP2R2B CCDS4284.1 r.? - - intronic 35 0 0 41 15 36.6 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.415860735 1.415860735 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.71E-24 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 146987357 C T JAKMIP2 CCDS4285.1 r.? - - intronic 37 0 0 28 5 17.9 48 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000279 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 147172093 C A - - - - - - 35 0 0 39 9 23.1 20 6 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 5.7E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 147390335 G C - - - - - - 33 0 0 44 10 22.7 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 147415133 A C - - - - - - 52 0 0 51 15 29.4 51 10 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 0.873051225 0.873051225 1 NA NA 1 NA NA 1 5 NA 1 1 8.22E-23 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 147617369 A G - - - - - - 36 0 0 41 9 22 48 12 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 147643516 G A SPINK5L3 CCDS43383.1 r.? - - upstream 29 0 0 44 11 25 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 147796197 C G FBXO38 CCDS4290.1 r.? - - intronic 38 1 2.6 43 13 30.2 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.16827853 1.16827853 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 0.173434892 1 3.88E-20 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 147826034 A T FBXO38 CCDS4290.1 r.? - - downstream 43 0 0 33 10 30.3 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 148716517 T A AFAP1L1 CCDS34274.1 r.? - - intronic 29 0 0 23 10 43.5 20 5 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.2477853 1.2477853 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.05E-17 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 149000007 C G ENSG00000183111 CCDS43385.1 r.1148c>g c.985C>G p.L329V missense 33 0 0 38 16 42.1 16 3 18.8 291 0 0 151 44 29.1 62 6 9.7 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.207626692 1.207626692 1 0.649416481 0.649416481 1 0.834725338 0.834725338 1 0.335071269 0.335071269 1 5 5 1 1 3.06E-27 8.9E-64 0.0000667 0.000000756 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 5 149467827 C G CSF1R CCDS4302.1 r.? - - intronic 39 0 0 33 17 51.5 42 16 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.477263056 1.477263056 1 1.316104677 1.316104677 1 NA NA 1 NA NA 1 5 NA 1 1 8.25E-31 1 2.25E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 150017222 C T SYNPO CCDS4308.1 r.? - - upstream 37 0 0 27 13 48.1 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.37973501 1.37973501 1 0.749592428 0.749592428 1 NA NA 1 NA NA 1 5 NA 1 1 2.29E-23 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 150752715 C T - - - - - - 32 0 0 30 13 43.3 20 5 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.242048356 1.242048356 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 151142370 C A ATOX1 CCDS47317.1 r.? - - upstream 41 0 0 25 7 28 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 151297577 C A GLRA1 CCDS4320.1 r.? - - intronic 33 0 0 30 9 30 20 6 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 5.7E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 151434587 A C - - - - - - 24 0 0 23 9 39.1 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 0.832496659 0.832496659 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 151508620 T A - - - - - - 23 0 0 32 10 31.2 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 1.219383073 1.219383073 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 151632254 A T - - - - - - 28 0 0 41 19 46.3 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.328102515 1.328102515 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 4.2E-33 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 151744548 T A - - - - - - 27 0 0 28 8 28.6 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 151899111 T C - - - - - - 24 0 0 22 10 45.5 20 6 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 5.98E-18 1 5.7E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 151997533 A T - - - - - - 29 0 0 26 9 34.6 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 152259619 C T - - - - - - 38 0 0 22 7 31.8 21 9 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 5.44E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 152324171 C A - - - - - - 28 0 0 34 13 38.2 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.095756286 1.095756286 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 152734189 A T - - - - - - 26 0 0 24 10 41.7 18 5 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 1.8E-17 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 153184794 C T GRIA1 CCDS4322.1 r.? - - intronic 28 0 0 24 10 41.7 17 3 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 0.607964365 0.607964365 1 NA NA 1 NA NA 1 5 NA 1 1 1.8E-17 1 0.0000807 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 154572840 T G - - - - - - 36 0 0 36 13 36.1 22 10 45.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.035518375 1.035518375 1 1.571726058 1.571726058 1 NA NA 1 NA NA 1 5 NA 1 1 2.53E-21 1 5.98E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 156033436 C T SGCD CCDS47325.1 r.? - - intronic 30 0 0 24 8 33.3 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-13 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 157402989 G A - - - - - - 29 0 0 28 14 50 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 0.59069265 0.59069265 1 NA NA 1 NA NA 1 5 NA 1 1 2.29E-25 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 157991127 C A - - - - - - 33 0 0 39 19 48.7 23 3 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.396945841 1.396945841 1 0.449064588 0.449064588 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-33 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 158136554 C A EBF1 CCDS4343.1 r.? - - intronic 37 0 0 30 10 33.3 25 9 36 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.243563474 1.243563474 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 3.71E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 158393040 T G EBF1 CCDS4343.1 r.? - - intronic 28 0 0 21 4 19 31 5 16.1 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.545009671 0.545009671 1 0.55614922 0.55614922 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000349 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 158973822 A T - - - - - - 24 0 0 27 10 37 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 0.718503341 0.718503341 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 159159216 T G - - - - - - 45 0 0 31 11 35.5 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 159271656 C T - - - - - - 26 0 0 34 14 41.2 23 4 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.181810445 1.181810445 1 0.601055679 0.601055679 1 NA NA 1 NA NA 1 5 NA 1 1 7.74E-24 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 159497099 G C TTC1 CCDS4348.1 r.? - - downstream 36 0 0 32 11 34.4 23 4 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.986754352 0.986754352 1 0.601055679 0.601055679 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 160103702 T G ATP10B CCDS43394.1 r.? - - intronic 34 0 0 36 11 30.6 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.877752418 0.877752418 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 160189625 A C ATP10B CCDS43394.1 r.? - - intronic 33 0 0 30 12 40 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 160482180 A G - - - - - - 43 0 0 33 9 27.3 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 160692087 G T - - - - - - 47 0 0 30 9 30 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 160797884 C G GABRB2 CCDS4355.1 r.? - - intronic 34 0 0 32 6 18.8 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.539272727 0.539272727 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 161024168 C A - - - - - - 36 0 0 35 10 28.6 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 161376943 T G - - - - - - 29 0 0 33 10 30.3 21 3 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 0.493971047 0.493971047 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 162125997 T C - - - - - - 27 0 0 29 5 17.2 29 2 6.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.493377176 0.493377176 1 0.238349666 0.238349666 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000336 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 162294626 C T - - - - - - 30 0 0 26 6 23.1 32 8 25 0 0 NA 0 0 NA 7 0 0 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.662617021 0.662617021 1 0.863585746 0.863585746 1 NA NA 1 0 0 1 5 NA 1 1 3.3E-09 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 163035776 C T - - - - - - 23 0 0 30 13 43.3 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.242048356 1.242048356 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 163117131 G A - - - - - - 42 0 0 21 8 38.1 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.092887814 1.092887814 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 7.5E-14 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 163773247 C G - - - - - - 35 0 0 29 11 37.9 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 165701193 A T - - - - - - 44 0 0 28 11 39.3 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.127309478 1.127309478 1 1.267743875 1.267743875 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 165863997 G A - - - - - - 39 0 0 33 7 21.2 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.608116054 0.608116054 1 1.046665924 1.046665924 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 165972941 A T - - - - - - 40 0 0 42 10 23.8 45 13 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.682696325 0.682696325 1 0.998305122 0.998305122 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 7.68E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 166208435 G T - - - - - - 33 0 0 25 8 32 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 166732876 T G - - - - - - 33 0 0 19 10 52.6 35 15 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.508816248 1.508816248 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 8.66E-19 1 9.02E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 167019451 A C - - - - - - 32 0 0 31 5 16.1 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.461823985 0.461823985 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000476 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 167413300 G T ODZ2 ENST00000403607 r.? - - intronic 19 0 0 31 9 29 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 0.55614922 0.55614922 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 168653761 A G SLIT3 CCDS4369.1 r.? - - intronic 21 0 0 26 8 30.8 21 9 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 5.44E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 169073119 G A DOCK2 CCDS4371.1 r.? - - intronic 39 0 0 33 10 30.3 38 16 42.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 1.454278396 1.454278396 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 3.06E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 169313306 T A DOCK2 CCDS4371.1 r.? - - intronic 39 0 0 31 9 29 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 1.046665924 1.046665924 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 169625871 C G AC008660.1 ENST00000506431 r.275g>c - - non-coding variant 26 0 0 33 13 39.4 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.13017795 1.13017795 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 169641201 G C - - - - - - 38 0 0 18 6 33.3 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.749592428 0.749592428 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-10 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 172814691 G A - - - - - - 40 0 0 24 8 33.3 17 3 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.607964365 0.607964365 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-13 1 0.0000807 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 173092714 T G - - - - - - 25 0 0 30 9 30 20 6 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 5.7E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 173159137 G C - - - - - - 30 0 0 32 9 28.1 35 15 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.806040619 0.806040619 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 9.02E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 173575145 T C - - - - - - 23 0 0 30 8 26.7 17 2 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 0.407612472 0.407612472 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 0.003234386 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 173847597 G T - - - - - - 30 0 0 29 9 31 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 1.336830735 1.336830735 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 174264108 C T - - - - - - 27 0 0 26 12 46.2 22 9 40.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.325234043 1.325234043 1 1.412826281 1.412826281 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-21 1 9.16E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 174321591 A G - - - - - - 44 0 0 26 7 26.9 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.771618956 0.771618956 1 1.278106904 1.278106904 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 174794590 T A - - - - - - 30 0 0 39 16 41 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.176073501 1.176073501 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.16E-27 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 174846708 T A - - - - - - 32 0 0 33 6 18.2 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 174846709 G T - - - - - - 32 0 0 33 6 18.2 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 0.749592428 0.749592428 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 174863428 T G DRD1 CCDS4393.1 r.? - - downstream 46 0 0 32 12 37.5 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.115752784 1.115752784 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 174897090 C G - - - - - - 28 0 0 31 7 22.6 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.648274662 0.648274662 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 175127419 C A - - - - - - 35 0 0 26 12 46.2 19 2 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.325234043 1.325234043 1 0.362706013 0.362706013 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-21 1 0.004039874 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 175308390 A G CPLX2 CCDS4396.1 r.2390a>g c.? p.? 3'UTR variant 31 0 0 24 13 54.2 18 3 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.554711799 1.554711799 1 0.576875278 0.576875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.9E-24 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 175479359 G A ENSG00000248469 ENST00000512675 r.? - - intronic 24 0 0 24 8 33.3 23 9 39.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.350648107 1.350648107 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-13 1 1.5E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 176055289 C A EIF4E1B CCDS47345.1 r.? - - upstream 30 0 0 30 9 30 22 5 22.7 0 0 NA 2 0 0 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 0.784135857 0.784135857 1 0 0 1 NA NA 1 5 NA 1 1 2.54E-14 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 177074014 C A - - - - - - 44 0 0 30 5 16.7 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.479034816 0.479034816 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 177541811 C G ENSG00000145911 CCDS34307.1 r.? - - intronic 23 0 0 32 9 28.1 18 4 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.806040619 0.806040619 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 0.00000181 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 177729106 G T COL23A1 CCDS4436.1 r.? - - intronic 28 0 0 24 6 25 12 2 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.576875278 0.576875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.95E-09 1 0.001595918 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 178753978 T A ADAMTS2 CCDS4444.1 r.? - - intronic 33 0 0 19 8 42.1 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.207626692 1.207626692 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.81E-14 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 179047944 T G HNRNPH1 CCDS4446.1 r.1882a>c c.346A>C p.R116R silent 30 0 0 28 10 35.7 28 8 28.6 225 0 0 80 19 23.8 27 4 14.8 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 0.987942094 0.987942094 1 0.682696325 0.682696325 1 0.511242762 0.511242762 1 5 5 1 1 1.18E-16 1.65E-26 1.11E-12 0.00001 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 5 179518572 T A - - - - - - 28 0 0 36 11 30.6 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.877752418 0.877752418 1 0.507788419 0.507788419 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 180146471 A G - - - - - - 33 0 0 42 7 16.7 38 0 0 132 0 0 66 3 4.5 13 0 0 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.479034816 0.479034816 1 0 0 1 0.129081238 0.129081238 1 0 0 1 3 2 1 1 1.81E-09 0.004522888 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 180277158 T C ZFP62 CCDS47357.1 r.1493a>g c.1157A>G p.E386G missense 42 0 0 30 7 23.3 36 11 30.6 202 0 0 80 24 30 99 66 66.7 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.668353965 0.668353965 1 1.057028953 1.057028953 1 0.860541586 0.860541586 1 2.304046771 2.304046771 1 5 4 1 1 1.44E-10 7.39E-36 2.62E-17 2.27E-126 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 5 180467709 G C BTNL9 CCDS4460.2 r.? - - intronic 26 0 0 24 8 33.3 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-13 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 180569573 C T - - - - - - 17 0 0 22 11 50 9 4 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.533728285 1.533728285 1 NA NA 1 NA NA 1 5 NA 1 1 3.27E-20 1 7.72E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 1115192 G C - - - - - - 25 0 0 41 26 63.4 34 13 38.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.818611219 1.818611219 1 1.31955902 1.31955902 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-50 1 1.03E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 2698449 C T MYLK4 CCDS34330.1 r.? - - intronic 36 0 0 21 5 23.8 28 12 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.682696325 0.682696325 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 5.95E-08 1 6.9E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 2917080 A T - - - - - - 21 0 0 29 10 34.5 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 3254557 G T PSMG4 CCDS47362.1 r.? - - upstream 22 0 0 32 12 37.5 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 3393993 C G SLC22A23 CCDS47363.1 r.? - - intronic 26 0 0 22 10 45.5 23 13 56.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 1.951703786 1.951703786 1 NA NA 1 NA NA 1 5 NA 1 1 5.98E-18 1 1.33E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 3628639 A T - - - - - - 31 0 0 31 8 25.8 37 15 40.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.740065764 0.740065764 1 1.399008909 1.399008909 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 2.58E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 3777693 C G - - - - - - 22 0 0 21 10 47.6 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.36539265 1.36539265 1 1.202111359 1.202111359 1 NA NA 1 NA NA 1 5 NA 1 1 3.28E-18 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 3983739 G T ENSG00000145965 ENST00000356722 r.831g>u c.? p.? 3'UTR variant 25 0 0 30 7 23.3 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.668353965 0.668353965 1 1.057028953 1.057028953 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 4353754 C T - - - - - - 26 0 0 32 9 28.1 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.806040619 0.806040619 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 4637218 T G - - - - - - 28 0 0 27 8 29.6 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 0.618327394 0.618327394 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 4670627 T C - - - - - - 34 0 0 31 8 25.8 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.740065764 0.740065764 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 4767244 A T CDYL ENST00000328908 r.? - - intronic 39 0 0 32 14 43.8 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.256390716 1.256390716 1 1.119207127 1.119207127 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 4914267 G A CDYL CCDS47364.1 r.? - - intronic 39 0 0 31 11 35.5 20 5 25 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 5745707 C A FARS2 CCDS4494.1 r.? - - intronic 32 0 0 39 17 43.6 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.250653772 1.250653772 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 3.51E-29 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 5760693 C G FARS2 CCDS4494.1 r.? - - intronic 24 0 0 22 10 45.5 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 1.202111359 1.202111359 1 NA NA 1 NA NA 1 5 NA 1 1 5.98E-18 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 6104322 T A - - - - - - 34 0 0 26 13 50 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 0.887766147 0.887766147 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-23 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 7500491 T A - - - - - - 23 0 0 32 13 40.6 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.164599613 1.164599613 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-22 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 7500492 C A - - - - - - 25 0 0 32 13 40.6 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.164599613 1.164599613 1 0.670142539 0.670142539 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-22 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 7629375 G C - - - - - - 31 1 3.2 34 12 35.3 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.0125706 1.0125706 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 0.143917729 1 1.21E-19 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 7829606 C G BMP6 CCDS4503.1 r.? - - intronic 44 0 0 25 7 28 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 0.525060134 0.525060134 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 8982124 G T - - - - - - 41 0 0 31 9 29 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 10160193 G T OFCC1 ENST00000481704 r.? - - intronic 44 0 0 23 9 39.1 33 15 45.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 1.571726058 1.571726058 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 2.91E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 10797747 G T MAK CCDS4516.1 r.? - - intronic 32 0 0 27 8 29.6 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 1.226291759 1.226291759 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 10862336 G T - - - - - - 30 0 0 20 9 45 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.290812379 1.290812379 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 3.12E-16 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 10944802 T C SYCP2L CCDS43423.1 r.? - - intronic 37 0 0 29 6 20.7 39 19 48.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.593773694 0.593773694 1 1.682265033 1.682265033 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 1.2E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 11555602 G T TMEM170B CCDS43425.1 r.? - - intronic 36 0 0 39 11 28.2 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.808909091 0.808909091 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 11705817 C T - - - - - - 29 0 0 25 12 48 18 3 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.376866538 1.376866538 1 0.576875278 0.576875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-21 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 11979744 G A - - - - - - 28 0 0 32 10 31.2 42 14 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 11996820 G T - - - - - - 26 0 0 52 14 26.9 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.040618956 1.040618956 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 9.04E-21 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 12001638 C A - - - - - - 34 0 0 34 5 14.7 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.568665377 0.568665377 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 12066556 C A HIVEP1 CCDS43426.1 r.? - - intronic 43 0 0 32 8 25 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 12241230 C A - - - - - - 22 0 0 37 9 24.3 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 12392244 G T - - - - - - 42 0 0 53 20 37.7 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.458413926 1.458413926 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 1.65E-32 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 12857478 G A PHACTR1 ENST00000379350 r.? - - intronic 28 0 0 39 10 25.6 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 12971211 T A PHACTR1 ENST00000379350 r.? - - intronic 42 0 0 32 8 25 27 3 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 12983859 A G PHACTR1 ENST00000379350 r.? - - intronic 34 0 0 40 11 27.5 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 13189759 T A PHACTR1 ENST00000379350 r.? - - intronic 34 0 0 32 9 28.1 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 13551099 A T - - - - - - 30 0 0 47 10 21.3 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.823984526 0.823984526 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 13807342 G C CCDC90A CCDS35495.1 r.? - - intronic 31 0 0 38 8 21.1 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 13948708 C A RNF182 ENST00000488300 r.? - - intronic 55 0 0 57 17 29.8 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.152804642 1.152804642 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 8.82E-26 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 14551031 A T - - - - - - 21 0 0 47 13 27.7 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.071566731 1.071566731 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-19 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 14555713 C A - - - - - - 46 0 0 28 9 32.1 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.241779497 1.241779497 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 14757023 C A - - - - - - 28 0 0 36 10 27.8 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 14913394 G A - - - - - - 32 0 0 49 15 30.6 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 4.1E-23 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 14913395 C T - - - - - - 32 0 0 50 15 30 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 5.83E-23 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 15123623 T A - - - - - - 23 0 0 53 17 32.1 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.241779497 1.241779497 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-26 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 15185163 G C - - - - - - 18 0 0 28 8 28.6 18 6 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 2.75E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 15208182 C T - - - - - - 23 0 0 47 11 23.4 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.905222437 0.905222437 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 7.21E-16 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 15747265 T A - - - - - - 41 0 0 36 12 33.3 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 15799655 C G - - - - - - 32 0 0 29 7 24.1 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.932301741 0.932301741 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 16030805 C T - - - - - - 28 0 0 36 8 22.2 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 16078853 A G - - - - - - 35 0 0 29 7 24.1 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.932301741 0.932301741 1 0.623608018 0.623608018 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 16206961 T C - - - - - - 35 0 0 40 8 20 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 16871657 C T - - - - - - 22 0 0 40 8 20 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 16968906 C T - - - - - - 24 0 0 36 7 19.4 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 17154849 G T - - - - - - 34 0 0 50 14 28 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.083172147 1.083172147 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 4.84E-21 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 17175979 C A - - - - - - 41 0 0 39 14 35.9 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.388781431 1.388781431 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 17727339 C G - - - - - - 45 0 0 50 11 22 42 5 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.530066815 0.530066815 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 17962289 G T KIF13A CCDS47380.1 r.? - - intronic 26 0 0 36 12 33.3 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 18357190 G T - - - - - - 38 0 0 43 7 16.3 54 16 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.793560928 0.793560928 1 1.614485523 0.807242762 2 NA NA 1 NA NA 1 5 NA 1 1 2.15E-09 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 18596067 G A AL136230.1 ENST00000510325 r.? - - intronic 38 0 0 52 17 32.7 47 11 23.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.591990329 0.795995164 2 1.276316258 1.276316258 1 NA NA 1 NA NA 1 5 NA 1 1 1.42E-26 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 18909909 C T - - - - - - 40 0 0 57 13 22.8 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.110011605 1.110011605 1 1.036325167 1.036325167 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 19330906 C T - - - - - - 31 0 0 50 10 20 45 5 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 0.605432071 0.605432071 1 NA NA 1 NA NA 1 5 NA 1 1 8.36E-14 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 19544789 T G - - - - - - 32 0 0 51 7 13.7 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.666980658 0.666980658 1 1.270861915 1.270861915 1 NA NA 1 NA NA 1 5 NA 1 1 7.46E-09 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 19594623 T C - - - - - - 39 0 0 49 9 18.4 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.895798839 0.895798839 1 1.249044543 1.249044543 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-12 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 19807711 C T - - - - - - 39 0 0 51 15 29.4 22 3 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.431330754 1.431330754 1 0.741790646 0.741790646 1 NA NA 1 NA NA 1 5 NA 1 1 8.22E-23 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 20148212 G A LPCAT3 CCDS34346.1 r.? - - intronic 23 0 0 43 7 16.3 45 12 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.793560928 0.793560928 1 1.456309577 1.456309577 1 NA NA 1 NA NA 1 5 NA 1 1 2.15E-09 1 6.03E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 20300742 G T - - - - - - 24 0 0 40 8 20 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 1.199955457 1.199955457 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 20591448 A G CDKAL1 CCDS4546.1 r.? - - intronic 28 0 0 65 11 16.9 51 11 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.82277176 0.82277176 1 1.178138085 1.178138085 1 NA NA 1 NA NA 1 5 NA 1 1 3.41E-14 1 1.94E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 20642311 G T CDKAL1 CCDS4546.1 r.? - - intronic 36 0 0 63 15 23.8 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.158696325 1.158696325 1 0.807242762 0.807242762 1 NA NA 1 NA NA 1 5 NA 1 1 2.97E-21 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 20886884 G C CDKAL1 CCDS4546.1 r.? - - intronic 36 0 0 42 9 21.4 51 7 13.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.041852998 1.041852998 1 0.747244989 0.747244989 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 7.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 21153124 G A CDKAL1 CCDS4546.1 r.? - - intronic 36 0 0 54 16 29.6 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.441067698 1.441067698 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.69E-24 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 21264683 G T - - - - - - 29 0 0 54 7 13 54 16 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.632901354 0.632901354 1 1.614485523 0.807242762 2 NA NA 1 NA NA 1 5 NA 1 1 1.13E-08 1 2.69E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 21430098 A C - - - - - - 19 0 0 53 9 17 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.827640232 0.827640232 1 1.679937639 0.83996882 2 NA NA 1 NA NA 1 5 NA 1 1 7.1E-12 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 21444686 A T - - - - - - 45 0 0 41 9 22 52 7 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.07106383 1.07106383 1 0.736336303 0.736336303 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 8.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 21504293 G T - - - - - - 36 0 0 62 12 19.4 66 12 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.944483559 0.944483559 1 0.992690423 0.992690423 1 NA NA 1 NA NA 1 5 NA 1 1 4.19E-16 1 9.36E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 21953387 A C - - - - - - 28 0 0 46 10 21.7 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.056458414 1.056458414 1 0.709064588 0.709064588 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-14 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 22312038 C A - - - - - - 30 0 0 64 13 20.3 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.988299807 0.988299807 1 0.796334076 0.796334076 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 22324050 C T - - - - - - 33 0 0 62 14 22.6 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.100274662 1.100274662 1 1.434492205 1.434492205 1 NA NA 1 NA NA 1 5 NA 1 1 1.42E-19 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 22426492 T C - - - - - - 31 0 0 49 6 12.2 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.593953578 0.593953578 1 0.719973274 0.719973274 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000182 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 22974705 T A - - - - - - 36 0 0 42 10 23.8 61 12 19.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.158696325 1.158696325 1 1.074505568 1.074505568 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 3.39E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 22984968 C A - - - - - - 34 0 0 53 10 18.9 56 10 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.920141199 0.920141199 1 0.976327394 0.976327394 1 NA NA 1 NA NA 1 5 NA 1 1 1.57E-13 1 2.82E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 23004634 G C - - - - - - 30 0 0 50 7 14 48 7 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.681586074 0.681586074 1 0.796334076 0.796334076 1 NA NA 1 NA NA 1 5 NA 1 1 6.46E-09 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 23046017 C T - - - - - - 41 0 0 45 15 33.3 47 4 8.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.621201161 0.81060058 2 0.463619154 0.463619154 1 NA NA 1 NA NA 1 5 NA 1 1 9.14E-24 1 0.0000939 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 23117434 T A - - - - - - 34 0 0 55 15 27.3 45 2 4.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.329092843 1.329092843 1 0.239991091 0.239991091 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-22 1 0.021467209 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 23193340 G T - - - - - - 34 0 0 46 14 30.4 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.480015474 1.480015474 1 0.725427617 0.725427617 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-21 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 23459480 G T - - - - - - 38 0 0 48 13 27.1 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.319355899 1.319355899 1 0.927238307 0.927238307 1 NA NA 1 NA NA 1 5 NA 1 1 2E-19 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 23481543 T G - - - - - - 48 0 0 70 6 8.6 38 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.418688588 0.418688588 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000156 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 23486275 T A - - - - - - 31 0 0 47 10 21.3 52 15 28.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.036984526 1.036984526 1 1.57085078 0.78542539 2 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 1.15E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 23516569 A C - - - - - - 24 0 0 36 11 30.6 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.489752418 1.489752418 1 1.167229399 1.167229399 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 23633080 G A - - - - - - 32 0 0 47 11 23.4 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.139222437 1.139222437 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 7.21E-16 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 23867777 T C - - - - - - 38 0 0 49 10 20.4 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.993168279 0.993168279 1 0.93269265 0.93269265 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-14 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 23934051 A G - - - - - - 19 0 0 48 9 18.8 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.915272727 0.915272727 1 1.270861915 1.270861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 24183375 G T DCDC2 CCDS4550.1 r.? - - intronic 40 0 0 41 8 19.5 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.949352031 0.949352031 1 0.709064588 0.709064588 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 24221661 G A DCDC2 CCDS4550.1 r.? - - intronic 34 0 0 50 12 24 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.168433269 1.168433269 1 1.319951002 1.319951002 1 NA NA 1 NA NA 1 5 NA 1 1 2.49E-17 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 24886814 C A FAM65B CCDS47383.1 r.? - - intronic 36 0 0 57 11 19.3 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.939615087 0.939615087 1 1.576305122 1.576305122 1 NA NA 1 NA NA 1 5 NA 1 1 7.29E-15 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 25166531 C T CMAH ENST00000377993 r.167g>a c.? p.? 5'UTR variant 28 0 0 38 6 15.8 34 1 2.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.769218569 0.769218569 1 0.158175947 0.158175947 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 0.156694864 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 25417420 C T LRRC16A ENST00000329474 r.? - - intronic 26 0 0 46 7 15.2 54 9 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.740007737 0.740007737 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.53E-09 1 8.48E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 25986887 G T TRIM38 CCDS4568.1 r.? - - downstream 27 0 0 53 12 22.6 50 10 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.100274662 1.100274662 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.39E-17 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 26190706 G T HIST1H4D CCDS4589.1 r.? - - upstream 36 0 0 60 9 15 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.730270793 0.730270793 1 1.456309577 1.456309577 1 NA NA 1 NA NA 1 5 NA 1 1 2.29E-11 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 26337414 C A - - - - - - 29 0 0 44 10 22.7 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.105143133 1.105143133 1 1.139957684 1.139957684 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 26624308 C T - - - - - - 30 0 0 56 24 42.9 46 17 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.088574468 1.044287234 2 2.018106904 1.009053452 2 NA NA 1 NA NA 1 5 NA 1 1 2.23E-40 1 1.16E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 27193717 G A - - - - - - 41 0 0 44 9 20.5 61 10 16.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.99803675 0.99803675 1 0.894512249 0.894512249 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 6.98E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 27360742 C G ZNF391 CCDS43429.1 r.? - - intronic 30 0 0 44 10 22.7 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.105143133 1.105143133 1 0.970873051 0.970873051 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 27424182 C G ZNF184 CCDS4624.1 r.? - - intronic 29 0 0 39 5 12.8 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.62316441 0.62316441 1 0.872694878 0.872694878 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000156 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 27618937 C A - - - - - - 35 0 0 48 9 18.8 54 9 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.915272727 0.915272727 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 8.48E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 27622104 A T - - - - - - 18 0 0 45 13 28.9 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.406988395 1.406988395 1 1.259953229 1.259953229 1 NA NA 1 NA NA 1 5 NA 1 1 7.68E-20 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 27744274 A G - - - - - - 41 0 0 54 15 27.8 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.353435203 1.353435203 1 1.15086637 1.15086637 1 NA NA 1 NA NA 1 5 NA 1 1 2.2E-22 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 27752782 A T - - - - - - 29 0 0 47 14 29.8 55 15 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.450804642 1.450804642 1 1.489035635 1.489035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 3.01E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 27786888 A G HIST1H2BM CCDS4629.1 r.? - - downstream 29 0 0 49 10 20.4 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.993168279 0.993168279 1 1.118140312 1.118140312 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-14 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 27822354 G A - - - - - - 27 0 0 58 12 20.7 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.007773694 1.007773694 1 0.976327394 0.976327394 1 NA NA 1 NA NA 1 5 NA 1 1 1.76E-16 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 27981696 G A - - - - - - 29 0 0 49 11 22.4 59 7 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.090537718 1.090537718 1 0.649066815 0.649066815 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 2.12E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 28234825 C G - - - - - - 26 0 0 56 12 21.4 48 7 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.041852998 1.041852998 1 0.796334076 0.796334076 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-16 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 28400020 A G ZSCAN23 CCDS47393.1 r.? - - downstream 42 0 0 53 10 18.9 55 5 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.920141199 0.920141199 1 0.496345212 0.496345212 1 NA NA 1 NA NA 1 5 NA 1 1 1.57E-13 1 0.00000883 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 28461748 T A - - - - - - 45 0 0 35 8 22.9 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.114880077 1.114880077 1 1.139957684 1.139957684 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 28476337 C A GPX6 CCDS43432.1 r.? - - intronic 35 0 0 47 14 29.8 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.450804642 1.450804642 1 1.270861915 1.270861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 28498442 C T GPX5 CCDS4652.1 r.? - - intronic 42 0 0 62 29 46.8 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.278444874 1.139222437 2 1.576305122 1.576305122 1 NA NA 1 NA NA 1 5 NA 1 1 6.51E-50 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 28535681 C T SCAND3 CCDS34355.1 r.? - - downstream 39 0 0 52 7 13.5 51 9 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.657243714 0.657243714 1 0.959964365 0.959964365 1 NA NA 1 NA NA 1 5 NA 1 1 8.58E-09 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 28556142 A T SCAND3 CCDS34355.1 r.? - - upstream 36 0 0 41 8 19.5 55 8 14.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.949352031 0.949352031 1 0.790879733 0.790879733 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 3.86E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 28584866 G A - - - - - - 27 0 0 64 13 20.3 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.988299807 0.988299807 1 0.83996882 0.83996882 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 28682582 G A - - - - - - 35 0 0 68 14 20.6 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.002905222 1.002905222 1 1.330859688 1.330859688 1 NA NA 1 NA NA 1 5 NA 1 1 5.84E-19 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 28902687 C T - - - - - - 26 0 0 47 13 27.7 49 4 8.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.348566731 1.348566731 1 0.447256125 0.447256125 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-19 1 0.000110643 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 29012584 A T OR2W1 CCDS4656.1 r.434u>a c.369T>A p.F123L missense 35 0 0 55 10 18.2 46 9 19.6 162 0 0 102 11 10.8 157 65 41.4 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.886061896 0.886061896 1 1.069051225 1.069051225 1 0.525794971 0.525794971 1 2.258097996 1.129048998 2 5 4 1 1 2.33E-13 5.73E-12 1.82E-12 1.97E-105 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 6 29221666 A T - - - - - - 37 0 0 69 12 17.4 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.84711412 0.84711412 1 1.445400891 1.445400891 1 NA NA 1 NA NA 1 5 NA 1 1 1.65E-15 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 29229595 G C - - - - - - 27 0 0 38 10 26.3 48 9 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.280408124 1.280408124 1 1.025416481 1.025416481 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 29257484 T C OR12D3 ENST00000396806 r.? - - intronic 46 0 0 50 7 14 59 8 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.681586074 0.681586074 1 0.741790646 0.741790646 1 NA NA 1 NA NA 1 5 NA 1 1 6.46E-09 1 6.9E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 29260803 A T OR12D3 ENST00000396806 r.? - - intronic 40 0 0 57 11 19.3 61 8 13.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.939615087 0.939615087 1 0.714518931 0.714518931 1 NA NA 1 NA NA 1 5 NA 1 1 7.29E-15 1 9.09E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 29506803 A C - - - - - - 37 0 0 44 6 13.6 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.662112186 0.662112186 1 0.698155902 0.698155902 1 NA NA 1 NA NA 1 5 NA 1 1 9.37E-08 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 29582242 T G GABBR1 CCDS4663.1 r.? - - intronic 45 0 0 49 8 16.3 51 12 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.793560928 0.793560928 1 1.281770601 1.281770601 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-10 1 3.24E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 29602627 G C GABBR1 CCDS4663.1 r.? - - upstream 31 0 0 56 9 16.1 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.783823985 0.783823985 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-11 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 29634167 G A MOG CCDS47395.1 r.? - - intronic 42 0 0 59 8 13.6 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.662112186 0.662112186 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-10 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 29737614 A C - - - - - - 41 0 0 53 7 13.2 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.642638298 0.642638298 1 1.069051225 1.069051225 1 NA NA 1 NA NA 1 5 NA 1 1 9.85E-09 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 29881351 T A - - - - - - 33 0 0 52 16 30.8 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.499489362 0.749744681 2 1.456309577 1.456309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-24 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 29929253 C A - - - - - - 28 0 0 49 11 22.4 56 9 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.090537718 1.090537718 1 0.87814922 0.87814922 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 1.2E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 30203544 G T - - - - - - 35 0 0 41 10 24.4 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.187907157 1.187907157 1 0.872694878 0.872694878 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 30582179 C G PPP1R10 CCDS4681.1 r.? - - intronic 26 0 0 55 12 21.8 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.061326886 1.061326886 1 1.472672606 1.472672606 1 NA NA 1 NA NA 1 5 NA 1 1 8.78E-17 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 30605602 A C C6orf134 CCDS4683.2 r.? - - intronic 18 0 0 39 7 17.9 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.87145648 0.87145648 1 1.069051225 1.069051225 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 30645487 G C KIAA1949 CCDS43444.1 r.? - - intronic 24 0 0 40 11 27.5 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.338829787 1.338829787 1 1.472672606 1.472672606 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 30919508 A T DPCR1 CCDS4692.1 r.609a>u c.? p.? 5'UTR variant 36 0 0 71 15 21.1 50 6 12 250 0 0 129 18 14 72 32 44.4 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.027247582 1.027247582 1 0.654521158 0.654521158 1 0.681586074 0.681586074 1 2.421728285 1.210864143 2 5 4 1 1 2.15E-20 9.93E-21 0.000000206 5.47E-54 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 6 31055497 T C - - - - - - 31 0 0 55 12 21.8 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.061326886 1.061326886 1 1.069051225 1.069051225 1 NA NA 1 NA NA 1 5 NA 1 1 8.78E-17 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 31055499 T A - - - - - - 32 0 0 54 12 22.2 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.080800774 1.080800774 1 1.069051225 1.069051225 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-17 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 31096082 T G PSORS1C1 CCDS34390.1 r.? - - intronic 28 0 0 55 14 25.5 36 3 8.3 4 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.241460348 1.241460348 1 0.452710468 0.452710468 1 NA NA 1 NA NA 1 5 NA 1 1 2.19E-20 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 31226276 A T - - - - - - 17 0 0 53 6 11.3 28 3 10.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.550137331 0.550137331 1 0.583614699 0.583614699 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000293 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 31432234 G T - - - - - - 25 1 4 58 17 29.3 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 1.167061818 1.167061818 1 1.316273342 1.316273342 1 NA NA 0 NA NA 0 5 NA 0.117779757 1 1.24E-25 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 32265924 C T C6orf10 CCDS34422.1 r.? - - intronic 32 0 0 33 7 21.2 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.844426981 0.844426981 1 1.070326074 1.070326074 1 NA NA 0 NA NA 0 5 NA 1 1 2.98E-10 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 32332098 T C C6orf10 CCDS34422.1 r.? - - intronic 36 0 0 42 5 11.9 45 12 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.47399439 0.47399439 1 1.216072603 1.216072603 1 NA NA 0 NA NA 0 5 NA 1 1 0.00000228 1 6.03E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 32412070 A T HLA-DRA CCDS4750.1 r.? - - intronic 31 0 0 38 9 23.7 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.944005634 0.944005634 1 1.13864476 1.13864476 1 NA NA 0 NA NA 0 5 NA 1 1 2.79E-13 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 32982721 A T - - - - - - 32 0 0 55 14 25.5 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 1.015702265 1.015702265 1 1.257063815 1.257063815 1 NA NA 0 NA NA 0 5 NA 1 1 2.19E-20 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 32997419 G A - - - - - - 35 0 0 39 11 28.2 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 1.12324721 1.12324721 1 1.029334863 1.029334863 1 NA NA 0 NA NA 0 5 NA 1 1 7.2E-17 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 33138899 C G COL11A2 CCDS43452.1 r.3359g>c c.3100G>C p.G1034R missense 29 0 0 38 11 28.9 30 4 13.3 109 0 0 122 42 34.4 18 13 72.2 TRUE TRUE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 1.151129233 1.151129233 1 0.605759012 0.605759012 1 1.370202271 1.22924016 1.114674182 3.288406066 2.988818674 1.100236055 5 4 1 1 5.19E-17 1.51E-64 0.0000154 1.02E-26 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 33173956 G C HSD17B8 CCDS4769.1 r.721+3g>c c.694+3G>C p.? splice region 17 0 0 34 12 35.3 39 9 23.1 283 0 0 134 39 29.1 5 1 20 TRUE TRUE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 1.406050586 1.406050586 1 1.052107758 1.052107758 1 1.159095526 1.159095526 1 0.910915808 0.910915808 1 5 6 1 1 1.21E-19 1.08E-56 3.62E-13 0.024751247 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 33419243 G C SYNGAP1 CCDS34434.2 r.? - - intronic 21 0 0 19 5 26.3 22 4 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 1.047567434 1.047567434 1 0.828933385 0.828933385 1 NA NA 0 NA NA 0 5 NA 1 1 3.43E-08 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 33451144 A C - - - - - - 38 0 0 45 6 13.3 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.529758436 0.529758436 1 0.974679914 0.974679914 1 NA NA 0 NA NA 0 5 NA 1 1 0.000000108 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 34147977 G C - - - - - - 30 0 0 40 11 27.5 23 2 8.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 1.095365187 1.095365187 1 0.396248376 0.396248376 1 NA NA 0 NA NA 0 5 NA 1 1 9.88E-17 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 34238995 G A - - - - - - 27 1 3.7 38 9 23.7 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.944005634 0.944005634 1 1.13864476 1.13864476 1 NA NA 0 NA NA 0 5 NA 0.126579904 1 2.79E-13 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 34472455 T C PACSIN1 CCDS4793.1 r.? - - intronic 41 0 0 44 9 20.5 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.816544958 0.816544958 1 0.7606147 0.7606147 1 NA NA 0 NA NA 1 5 NA 1 1 1.18E-12 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 35592987 A G FKBP5 CCDS4808.1 r.? - - intronic 28 0 0 36 11 30.6 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 1.218842718 1.218842718 1 0.56932238 0.56932238 1 NA NA 0 NA NA 0 5 NA 1 1 2.62E-17 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 36105835 C A MAPK13 CCDS4818.1 r.? - - intronic 29 0 0 40 6 15 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.59747192 0.59747192 1 1.51667482 1.51667482 1 NA NA 0 NA NA 0 5 NA 1 1 5.18E-08 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 36194406 G A BRPF3 CCDS34437.1 r.? - - intronic 29 0 0 39 11 28.2 27 3 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 1.12324721 1.12324721 1 0.505558273 0.505558273 1 NA NA 0 NA NA 0 5 NA 1 1 7.2E-17 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 36275198 A T PNPLA1 CCDS34438.1 r.? - - intronic 37 0 0 33 5 15.2 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.605438213 0.605438213 1 0.815269648 0.815269648 1 NA NA 0 NA NA 0 5 NA 1 1 0.00000066 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 36485050 A G STK38 CCDS4822.1 r.? - - intronic 42 0 0 27 6 22.2 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.884258442 0.884258442 1 0.71051433 0.71051433 1 NA NA 0 NA NA 0 5 NA 1 1 4.23E-09 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 36589765 C A - - - - - - 26 0 0 45 9 20 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.796629227 0.796629227 1 1.380037449 1.380037449 1 NA NA 0 NA NA 0 5 NA 1 1 1.47E-12 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 36640306 A G - - - - - - 43 0 0 49 15 30.6 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 1.218842718 1.218842718 1 1.220627182 1.220627182 1 NA NA 0 NA NA 0 5 NA 1 1 4.1E-23 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 36715007 T C CPNE5 CCDS4825.1 r.? - - intronic 24 0 0 42 6 14.3 50 10 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.569589897 0.569589897 1 0.910915808 0.910915808 1 NA NA 0 NA NA 0 5 NA 1 1 7.02E-08 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 36770766 G A CPNE5 CCDS4825.1 r.? - - intronic 31 0 0 41 12 29.3 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 1.167061818 1.167061818 1 0.983789072 0.983789072 1 NA NA 0 NA NA 0 5 NA 1 1 1.69E-18 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 36970914 G A FGD2 CCDS4829.1 r.? - - upstream 29 0 0 31 13 41.9 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 1.668938231 1.497243102 1.114674182 1.243400078 1.243400078 1 NA NA 0 NA NA 0 5 NA 1 1 2.32E-22 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 37678178 C A - - - - - - 29 0 0 38 13 34.2 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 1.362235978 1.362235978 1 0.883588334 0.883588334 1 NA NA 0 NA NA 0 5 NA 1 1 5.88E-21 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 37712076 T A - - - - - - 42 0 0 55 14 25.5 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 1.015702265 1.015702265 1 1.13864476 1.13864476 1 NA NA 0 NA NA 0 5 NA 1 1 2.19E-20 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 37753325 C A - - - - - - 29 0 0 34 8 23.5 25 4 16 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.936039342 0.936039342 1 0.728732646 0.728732646 1 0 NA 0 NA NA 0 5 NA 1 1 6.32E-12 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 38331811 G C BTBD9 CCDS47418.1 r.? - - intronic 34 0 0 39 6 15.4 33 3 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.613404505 0.613404505 1 0.414466693 0.414466693 1 NA NA 0 NA NA 0 5 NA 1 1 4.43E-08 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 38883717 C T DNAH8 CCDS4838.1 r.? - - intronic 50 0 0 29 7 24.1 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.959938219 0.959938219 1 0.7606147 0.7606147 1 NA NA 0 NA NA 0 5 NA 1 1 1.11E-10 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 38954091 C A DNAH8 CCDS4838.1 r.? - - intronic 43 0 0 46 10 21.7 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.864342712 0.864342712 1 1.316273342 1.316273342 1 NA NA 0 NA NA 0 5 NA 1 1 3.38E-14 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 39519420 A C KIF6 CCDS4844.1 r.? - - intronic 35 0 0 41 11 26.8 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 1.067483164 1.067483164 1 1.220627182 1.220627182 1 NA NA 0 NA NA 0 5 NA 1 1 1.34E-16 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 40487054 A T LRFN2 CCDS34443.1 r.? - - intronic 30 0 0 41 9 22 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.025969258 1.025969258 1 1.303587973 1.303587973 1 NA NA 0 NA NA 1 5 NA 1 1 5.92E-13 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 40610732 G C - - - - - - 33 0 0 35 10 28.6 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.333760035 1.333760035 1 1.559942094 1.559942094 1 NA NA 0 NA NA 1 5 NA 1 1 1.6E-15 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 40973092 C A - - - - - - 28 0 0 59 7 11.9 52 11 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.554956099 0.554956099 1 1.156320713 1.156320713 1 NA NA 0 NA NA 1 5 NA 1 1 2.12E-08 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 41367182 C G - - - - - - 26 0 0 45 7 15.6 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.727505474 0.727505474 1 1.025416481 1.025416481 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000003 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 41373222 C T - - - - - - 20 0 0 35 7 20 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.932699325 0.932699325 1 0.83996882 0.83996882 1 NA NA 0 NA NA 1 5 NA 1 1 4.65E-10 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 41627831 C A - - - - - - 37 0 0 45 10 22.2 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.035296251 1.035296251 1 0.970873051 0.970873051 1 NA NA 0 NA NA 1 5 NA 1 1 2.66E-14 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 41683630 C A TFEB CCDS4858.1 r.? - - intronic 21 0 0 36 7 19.4 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.904718346 0.904718346 1 1.118140312 1.118140312 1 NA NA 0 NA NA 1 5 NA 1 1 5.74E-10 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 42430921 T C - - - - - - 22 0 0 35 10 28.6 38 4 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.333760035 1.333760035 1 0.572706013 0.572706013 1 NA NA 0 NA NA 1 5 NA 1 1 1.6E-15 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 42443965 A G - - - - - - 36 0 0 53 11 20.8 49 11 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.970007298 0.970007298 1 1.221772829 1.221772829 1 NA NA 0 NA NA 1 5 NA 1 1 3.07E-15 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 42827682 C T KIAA0240 CCDS34451.1 r.? - - intronic 29 0 0 51 6 11.8 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.550292602 0.550292602 1 1.069051225 1.069051225 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000232 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 42923641 C A GNMT CCDS4876.1 r.? - - upstream 30 0 0 50 8 16 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.74615946 0.74615946 1 1.194501114 1.194501114 1 NA NA 0 NA NA 1 5 NA 1 1 1.74E-10 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 42955602 T C PPP2R5D CCDS4878.1 r.? - - intronic 30 0 0 47 18 38.3 38 16 42.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.786119208 0.995038806 1.795024673 2.296278396 1.148139198 2 NA NA 0 NA NA 1 5 NA 1 1 1.52E-29 1 3.06E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 43027161 C G MRPL2 CCDS34454.1 r.384g>c c.? p.? 5'UTR variant 28 0 0 39 6 15.4 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.71817848 0.71817848 1 1.363585746 1.363585746 1 NA NA 0 NA NA 1 5 NA 1 1 4.43E-08 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 43268925 G A SLC22A7 CCDS4893.2 r.975g>a c.880G>A p.A294T missense 30 0 0 37 5 13.5 41 4 9.8 243 0 0 222 42 18.9 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.629572045 0.629572045 1 0.534525612 0.534525612 1 0.881400862 0.881400862 1 NA NA 1 5 NA 1 1 0.00000119 3.74E-52 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 43276789 C G SLC22A7 CCDS4893.2 r.? - - downstream 41 0 0 52 9 17.3 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.806784916 0.806784916 1 0.889057906 0.889057906 1 NA NA 0 NA NA 1 5 NA 1 1 5.92E-12 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 43301879 T A ZNF318 CCDS4895.2 r.? - - downstream 32 0 0 56 8 14.3 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.666880018 0.666880018 1 0.970873051 0.970873051 1 NA NA 0 NA NA 1 5 NA 1 1 4.48E-10 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 43474633 A G TJAP1 CCDS4898.1 r.? - - downstream 31 0 0 44 6 13.6 54 12 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.634235541 0.634235541 1 1.210864143 1.210864143 1 NA NA 0 NA NA 1 5 NA 1 1 9.37E-08 1 6.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 43603587 C T MAD2L1BP CCDS4904.1 r.32c>u c.? p.? 5'UTR variant 24 0 0 56 14 25 43 11 25.6 187 1 0.5 308 63 20.5 13 2 15.4 TRUE TRUE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.165874157 1.165874157 1 1.396311804 1.396311804 1 0.956016808 0.956016808 1 0.83996882 0.83996882 1 5 6 1 0.608333795 2.91E-20 1.07E-79 2.42E-16 0.001879825 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 43935762 G A - - - - - - 38 0 0 58 8 13.8 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.643562534 0.643562534 1 1.063596882 1.063596882 1 NA NA 0 NA NA 1 5 NA 1 1 5.99E-10 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 44039749 G A - - - - - - 37 0 0 59 14 23.7 51 11 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.1052487 1.1052487 1 1.178138085 1.178138085 1 NA NA 0 NA NA 1 5 NA 1 1 6.58E-20 1 1.94E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 44266160 C G AARS2 CCDS34464.1 r.? - - downstream 38 0 0 58 27 46.6 46 16 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 2.173189428 1.210673848 1.795024673 1.898111359 0.949055679 2 NA NA 0 NA NA 1 5 NA 1 1 1.68E-46 1 1.31E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 44430877 C A - - - - - - 35 0 0 47 11 23.4 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.091258211 1.091258211 1 0.779971047 0.779971047 1 NA NA 0 NA NA 1 5 NA 1 1 7.21E-16 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 44466153 C T - - - - - - 26 0 0 39 7 17.9 47 15 31.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.834765896 0.834765896 1 1.739935412 0.869967706 2 NA NA 0 NA NA 1 5 NA 1 1 1.04E-09 1 1.97E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 44685274 T A - - - - - - 42 0 0 49 10 20.4 49 11 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.951353312 0.951353312 1 1.221772829 1.221772829 1 NA NA 0 NA NA 1 5 NA 1 1 6.72E-14 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 44753879 C G - - - - - - 33 0 0 44 9 20.5 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.956016808 0.956016808 1 1.330859688 1.330859688 1 NA NA 0 NA NA 1 5 NA 1 1 1.18E-12 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 44911992 C A SUPT3H CCDS34466.1 r.? - - intronic 39 0 0 53 8 15.1 44 3 6.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.704187991 0.704187991 1 0.370895323 0.370895323 1 NA NA 0 NA NA 1 5 NA 1 1 2.83E-10 1 0.00142027 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 45214700 A G SUPT3H CCDS34466.1 r.? - - intronic 26 0 0 47 10 21.3 63 9 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.993324781 0.993324781 1 0.779971047 0.779971047 1 NA NA 0 NA NA 1 5 NA 1 1 4.27E-14 1 3.62E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 45302686 A T RUNX2 CCDS43467.1 r.? - - intronic 35 0 0 53 6 11.3 54 10 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.526975119 0.526975119 1 1.009053452 1.009053452 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000293 1 1.91E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 45763277 A T - - - - - - 30 0 0 39 18 46.2 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 2.154535441 1.200281798 1.795024673 1.816296214 0.908148107 2 NA NA 0 NA NA 1 5 NA 1 1 2.15E-31 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 46159732 T G - - - - - - 28 0 0 46 14 30.4 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.417702974 1.417702974 1 0.889057906 0.889057906 1 NA NA 0 NA NA 1 5 NA 1 1 1.26E-21 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 46342668 G T RCAN2 ENST00000371374 r.? - - intronic 31 0 0 47 6 12.8 57 10 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.596927568 0.596927568 1 0.954510022 0.954510022 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000141 1 3.4E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 46427064 A C RCAN2 ENST00000371374 r.? - - intronic 45 0 0 55 5 9.1 54 8 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.424378193 0.533792482 0.795024673 0.807242762 0.807242762 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000883 1 3.31E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 46487365 A T - - - - - - 40 1 2.5 57 10 17.5 58 6 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.81611191 0.81611191 1 0.561797327 0.561797327 1 NA NA 0 NA NA 1 5 NA 0.181679879 1 3.4E-13 1 0.000000506 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 46836839 A C GPR116 CCDS4919.1 r.1701-10u>g c.1412-10T>G p.? splice region 24 0 0 45 10 22.2 45 7 15.6 134 0 0 91 21 23.1 953 822 86.3 TRUE TRUE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.035296251 1.035296251 1 0.850877506 0.850877506 1 1.077267721 1.077267721 1 4.707097996 2.353548998 2 5 4 1 1 2.66E-14 7.54E-29 0.000000003 0 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 6 46862685 G A GPR116 CCDS4919.1 r.? - - intronic 33 0 0 65 15 23.1 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.077267721 1.077267721 1 0.741790646 0.741790646 1 NA NA 0 NA NA 1 5 NA 1 1 5E-21 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 47026687 C G - - - - - - 33 0 0 47 11 23.4 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.091258211 1.091258211 1 1.445400891 1.445400891 1 NA NA 0 NA NA 1 5 NA 1 1 7.21E-16 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 47047205 G C - - - - - - 28 0 0 47 9 19.1 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.890727856 0.890727856 1 1.238135857 1.238135857 1 NA NA 0 NA NA 1 5 NA 1 1 2.24E-12 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 47078066 G A - - - - - - 31 0 0 33 6 18.2 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.848756386 0.848756386 1 0.796334076 0.796334076 1 NA NA 0 NA NA 1 5 NA 1 1 1.54E-08 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 47096016 G C - - - - - - 33 0 0 44 13 29.5 54 12 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.375731505 1.375731505 1 1.210864143 1.210864143 1 NA NA 0 NA NA 1 5 NA 1 1 5.49E-20 1 6.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 47288991 G C - - - - - - 27 0 0 48 11 22.9 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.067940727 1.067940727 1 0.829060134 0.829060134 1 NA NA 0 NA NA 1 5 NA 1 1 9.31E-16 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 47380513 C A - - - - - - 35 1 2.9 47 7 14.9 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.694860997 0.694860997 1 1.232681514 1.232681514 1 NA NA 0 NA NA 1 5 NA 0.16091139 1 4.12E-09 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 47438749 G C - - - - - - 41 0 0 57 9 15.8 50 12 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.736832467 0.736832467 1 1.309042316 1.309042316 1 NA NA 0 NA NA 1 5 NA 1 1 1.42E-11 1 2.49E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 47831313 C G - - - - - - 36 0 0 56 12 21.4 51 8 15.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.997988278 0.997988278 1 0.856331849 0.856331849 1 NA NA 0 NA NA 1 5 NA 1 1 1.11E-16 1 2.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 47852122 T A C6orf138 ENST00000339488 r.? - - intronic 31 0 0 51 6 11.8 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.550292602 0.550292602 1 1.614485523 1.614485523 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000232 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 48063287 G A - - - - - - 30 0 0 32 11 34.4 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.60424284 1.60424284 1 0.829060134 0.829060134 1 NA NA 0 NA NA 1 5 NA 1 1 5.72E-18 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 48199866 A G - - - - - - 36 0 0 46 7 15.2 38 3 7.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.708851487 0.708851487 1 0.430893096 0.430893096 1 NA NA 0 NA NA 1 5 NA 1 1 3.53E-09 1 0.000925091 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 48247883 C T - - - - - - 29 0 0 44 7 15.9 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.741495964 0.741495964 1 0.954510022 0.954510022 1 NA NA 0 NA NA 1 5 NA 1 1 2.55E-09 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 48274423 T A - - - - - - 26 0 0 50 9 18 55 11 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.839429393 0.839429393 1 1.090868597 1.090868597 1 NA NA 0 NA NA 1 5 NA 1 1 4.07E-12 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 48485966 G A - - - - - - 29 0 0 33 6 18.2 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.848756386 0.848756386 1 1.521761693 1.521761693 1 NA NA 0 NA NA 1 5 NA 1 1 1.54E-08 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 48583026 G T - - - - - - 37 0 0 49 8 16.3 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.76014995 0.76014995 1 0.818151448 0.818151448 1 NA NA 0 NA NA 1 5 NA 1 1 1.47E-10 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 48774148 G T - - - - - - 37 0 0 45 7 15.6 26 3 11.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.727505474 0.727505474 1 0.627249443 0.627249443 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000003 1 0.000298167 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 48943319 A T - - - - - - 30 0 0 41 9 22 53 15 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.025969258 1.025969258 1 1.543579065 0.771789532 2 NA NA 0 NA NA 1 5 NA 1 1 5.92E-13 1 1.6E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 48955743 C A - - - - - - 25 0 0 54 7 13 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.606254561 0.606254561 1 1.603576837 1.603576837 1 NA NA 0 NA NA 1 5 NA 1 1 1.13E-08 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 49041003 A T - - - - - - 41 0 0 45 11 24.4 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.137893177 1.137893177 1 1.210864143 1.210864143 1 NA NA 0 NA NA 1 5 NA 1 1 4.24E-16 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 49164746 A G - - - - - - 49 0 0 42 8 19 45 15 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.886064359 0.886064359 1 1.816296214 0.908148107 2 NA NA 0 NA NA 1 5 NA 1 1 3.96E-11 1 9.14E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 49610031 C T - - - - - - 24 0 0 50 12 24 52 8 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.11923919 1.11923919 1 0.83996882 0.83996882 1 NA NA 0 NA NA 1 5 NA 1 1 2.49E-17 1 2.42E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 49612323 C T - - - - - - 28 1 3.6 36 12 33.3 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.552944377 1.552944377 1 1.134503341 1.134503341 1 NA NA 0 NA NA 1 5 NA 0.130947004 1 2.73E-19 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 49713808 T C CRISP3 CCDS4929.1 r.? - - upstream 35 0 0 59 11 18.6 50 10 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.867410373 0.867410373 1 1.090868597 1.090868597 1 NA NA 0 NA NA 1 5 NA 1 1 1.1E-14 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 50150787 T C - - - - - - 43 0 0 35 10 28.6 48 7 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.333760035 1.333760035 1 0.796334076 0.796334076 1 NA NA 0 NA NA 1 5 NA 1 1 1.6E-15 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 50170208 G A - - - - - - 24 0 0 44 7 15.9 45 7 15.6 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.741495964 0.741495964 1 0.850877506 0.850877506 1 NA NA 0 0 0 1 5 NA 1 1 2.55E-09 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 50181117 C A - - - - - - 30 0 0 48 9 18.8 44 3 6.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.876737366 0.876737366 1 0.370895323 0.370895323 1 NA NA 0 NA NA 1 5 NA 1 1 2.75E-12 1 0.00142027 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 50204656 G C - - - - - - 34 0 0 42 7 16.7 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.778803937 0.778803937 1 0.93269265 0.93269265 1 NA NA 0 NA NA 1 5 NA 1 1 1.81E-09 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 50227842 T G - - - - - - 25 0 0 47 4 8.5 40 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.396397213 0.498597373 0.795024673 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000939 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 50273603 C T - - - - - - 45 0 0 43 12 27.9 48 13 27.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.301115559 1.301115559 1 1.478126949 1.478126949 1 NA NA 0 NA NA 1 5 NA 1 1 3.24E-18 1 2E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 50492178 G A - - - - - - 42 0 0 51 8 15.7 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.73216897 0.73216897 1 0.93269265 0.93269265 1 NA NA 0 NA NA 1 5 NA 1 1 2.05E-10 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 50818345 G T TFAP2B ENST00000263046 r.? - - downstream 23 0 0 62 17 27.4 5 1 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.277798076 1.277798076 1 1.090868597 1.090868597 1 NA NA 0 NA NA 1 5 NA 1 1 4.56E-25 1 0.024751247 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 50879309 T A - - - - - - 45 0 0 58 11 19 58 10 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.886064359 0.886064359 1 0.938146993 0.938146993 1 NA NA 0 NA NA 1 5 NA 1 1 8.96E-15 1 4.1E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 51114245 C A - - - - - - 41 0 0 56 6 10.7 42 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.498994139 0.627646105 0.795024673 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000409 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 51274064 C A - - - - - - 36 0 0 44 5 11.4 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.531638615 0.531638615 1 1.118140312 1.118140312 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000288 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 51313181 G T - - - - - - 30 0 0 54 13 24.1 56 13 23.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.123902687 1.123902687 1 1.265407572 1.265407572 1 NA NA 0 NA NA 1 5 NA 1 1 1.12E-18 1 1.89E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 51470174 G C - - - - - - 26 0 0 52 11 21.2 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.988661285 0.988661285 1 1.210864143 1.210864143 1 NA NA 0 NA NA 1 5 NA 1 1 2.44E-15 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 51594761 T G PKHD1 CCDS4935.1 r.? - - intronic 32 0 0 39 8 20.5 42 7 16.7 0 0 NA 0 0 NA 2 2 100 TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.956016808 0.956016808 1 0.910875278 0.910875278 1 NA NA 0 5.454342984 2.727171492 2 5 NA 1 1 2.09E-11 1 1.81E-09 0.000025 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 51653859 C T PKHD1 CCDS4935.1 r.? - - intronic 45 0 0 49 11 22.4 49 9 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.044623244 1.044623244 1 1.003599109 1.003599109 1 NA NA 0 NA NA 1 5 NA 1 1 1.19E-15 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 51716635 A C PKHD1 CCDS4935.1 r.? - - intronic 34 0 0 42 10 23.8 57 13 22.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.109912197 1.109912197 1 1.2435902 1.2435902 1 NA NA 0 NA NA 1 5 NA 1 1 1.24E-14 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 51777471 G T PKHD1 CCDS4935.1 r.? - - intronic 39 0 0 60 16 26.7 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.245153599 1.245153599 1 1.259953229 1.259953229 1 NA NA 0 NA NA 1 5 NA 1 1 1.86E-23 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 52185422 G C - - - - - - 32 0 0 50 14 28 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.305779055 1.305779055 1 0.927238307 0.927238307 1 NA NA 0 NA NA 1 5 NA 1 1 4.84E-21 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 52238496 G C PAQR8 CCDS4941.1 r.? - - intronic 24 0 0 42 10 23.8 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.109912197 1.109912197 1 0.867240535 0.867240535 1 NA NA 0 NA NA 1 5 NA 1 1 1.24E-14 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 52510500 C A - - - - - - 37 0 0 42 10 23.8 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.109912197 1.109912197 1 0.949055679 0.949055679 1 NA NA 0 NA NA 1 5 NA 1 1 1.24E-14 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 52594090 G T - - - - - - 30 0 0 50 6 12 51 5 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.559619595 0.559619595 1 0.534525612 0.534525612 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000206 1 0.00000606 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 52778589 A G GSTA3 CCDS4947.1 r.? - - upstream 42 0 0 49 8 16.3 48 5 10.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.76014995 0.76014995 1 0.56725167 0.56725167 1 NA NA 0 NA NA 1 5 NA 1 1 1.47E-10 1 0.00000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 52945672 T C FBXO9 ENST00000244426 r.? - - intronic 40 0 0 58 11 19 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.886064359 0.886064359 1 1.030870824 1.030870824 1 NA NA 0 NA NA 1 5 NA 1 1 8.96E-15 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 53436370 G T GCLC ENST00000505197 r.? - - intronic 32 0 0 45 5 11.1 45 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.517648126 0.517648126 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000323 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 54250449 G T TINAG CCDS4955.1 r.? - - intronic 39 0 0 57 11 19.3 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.900054849 0.900054849 1 0.725427617 0.725427617 1 NA NA 0 NA NA 1 5 NA 1 1 7.29E-15 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 54250450 G T TINAG CCDS4955.1 r.? - - intronic 38 0 0 56 11 19.6 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.914045339 0.914045339 1 0.741790646 0.741790646 1 NA NA 0 NA NA 1 5 NA 1 1 5.91E-15 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 54806336 A G FAM83B CCDS34479.1 r.2683a>g c.2567A>G p.E856G missense 28 0 0 41 8 19.5 55 9 16.4 156 0 0 90 14 15.6 436 2 0.5 TRUE TRUE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.909381842 0.909381842 1 0.894512249 0.894512249 1 0.727505474 0.727505474 1 0.027271715 0.027271715 1 5 5 1 1 3.22E-11 3.87E-17 1.01E-11 0.641256654 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9776b 6 54820899 A G - - - - - - 21 0 0 50 22 44 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 2.051938516 1.143125522 1.795024673 1.134503341 1.134503341 1 NA NA 0 NA NA 1 5 NA 1 1 1.85E-37 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 54851485 C T - - - - - - 31 0 0 53 11 20.8 52 8 15.4 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.970007298 0.970007298 1 0.83996882 0.83996882 1 NA NA 0 NA NA 1 5 NA 1 1 3.07E-15 1 2.42E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 54930420 C T - - - - - - 24 0 0 38 9 23.7 32 2 6.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.1052487 1.1052487 1 0.338169265 0.338169265 1 NA NA 0 NA NA 1 5 NA 1 1 2.79E-13 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 55066937 T C HCRTR2 CCDS4956.1 r.? - - intronic 55 0 0 48 5 10.4 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.485003649 0.61004855 0.795024673 0.829060134 0.829060134 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000447 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 55785435 A C - - - - - - 33 0 0 56 7 12.5 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.582937078 0.582937078 1 1.161775056 1.161775056 1 NA NA 0 NA NA 1 5 NA 1 1 1.46E-08 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 55858105 T A - - - - - - 26 0 0 51 7 13.7 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.638899038 0.638899038 1 0.867240535 0.867240535 1 NA NA 0 NA NA 1 5 NA 1 1 7.46E-09 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 56051974 G T COL21A1 ENST00000244728 r.? - - intronic 29 0 0 43 5 11.6 59 8 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.540965609 0.540965609 1 0.741790646 0.741790646 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000257 1 6.9E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 56333339 T G DST CCDS47441.1 r.? - - intronic 29 0 0 45 16 35.6 51 9 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.660204799 0.924892468 1.795024673 0.959964365 0.959964365 1 NA NA 0 NA NA 1 5 NA 1 1 8.61E-26 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 56342644 C G DST CCDS47441.1 r.? - - intronic 45 0 0 47 6 12.8 48 12 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.596927568 0.596927568 1 1.363585746 1.363585746 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000141 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 56653966 A G DST CCDS47441.1 r.? - - intronic 35 0 0 45 10 22.2 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.035296251 1.035296251 1 0.741790646 0.741790646 1 NA NA 0 NA NA 1 5 NA 1 1 2.66E-14 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 56960757 G C ZNF451 CCDS43477.1 r.? - - intronic 21 0 0 43 11 25.6 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.193855136 1.193855136 1 1.058142539 1.058142539 1 NA NA 0 NA NA 1 5 NA 1 1 2.42E-16 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 57036578 G C ZNF451 CCDS43477.1 r.? - - downstream 29 0 0 36 8 22.2 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.035296251 1.035296251 1 1.281770601 1.281770601 1 NA NA 0 NA NA 1 5 NA 1 1 1.04E-11 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 57235134 A T PRIM2 ENST00000425433 r.? - - intronic 69 0 0 106 16 15.1 94 13 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.704187991 0.704187991 1 0.752699332 0.752699332 1 NA NA 0 NA NA 1 5 NA 1 1 3.68E-19 1 2.52E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 57382519 T G PRIM2 ENST00000425433 r.? - - intronic 119 0 0 120 12 10 114 12 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.466349663 0.586585145 0.795024673 0.572706013 0.572706013 1 NA NA 0 NA NA 1 4 NA 1 1 1.56E-12 1 8.42E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 57389508 C G PRIM2 ENST00000425433 r.? - - intronic 69 0 0 126 11 8.7 98 9 9.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.405724207 0.405724207 1 0.501799555 0.501799555 1 NA NA 0 NA NA 1 4 NA 1 1 5.85E-11 1 2.06E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 57471198 A T PRIM2 ENST00000425433 r.? - - intronic 90 0 0 114 8 7 99 5 5.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.326444764 0.326444764 1 0.278171492 0.278171492 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000134 1 0.000151292 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 57568658 T C - - - - - - 47 0 0 46 7 15.2 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.708851487 0.708851487 1 0.949055679 0.949055679 1 NA NA 0 NA NA 1 5 NA 1 1 3.53E-09 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 57622779 G T - - - - - - 36 0 0 44 9 20.5 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.956016808 0.956016808 1 1.090868597 1.090868597 1 NA NA 0 NA NA 1 5 NA 1 1 1.18E-12 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 57659481 G A - - - - - - 42 0 0 39 15 38.5 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.795446201 1.000234831 1.795024673 0.910875278 0.910875278 1 NA NA 0 NA NA 1 5 NA 1 1 6.85E-25 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 57661995 A C - - - - - - 40 0 0 46 13 28.3 37 4 10.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.319769545 1.319769545 1 0.589069042 0.589069042 1 NA NA 0 NA NA 1 5 NA 1 1 1.07E-19 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 57723115 C A - - - - - - 38 0 0 27 10 37 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.725493752 0.961264643 1.795024673 0.752699332 0.752699332 1 NA NA 0 NA NA 1 5 NA 1 1 7.62E-17 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 57871236 A T - - - - - - 35 0 0 41 10 24.4 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.137893177 1.137893177 1 0.910875278 0.910875278 1 NA NA 0 NA NA 1 5 NA 1 1 9.51E-15 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 57948989 C T - - - - - - 32 0 0 27 9 33.3 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.552944377 1.552944377 1 0.910875278 0.910875278 1 NA NA 0 NA NA 1 5 NA 1 1 8.44E-15 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 58036893 T A - - - - - - 31 0 0 43 13 30.2 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 1.408375981 1.408375981 1 1.210864143 1.210864143 1 NA NA 0 NA NA 1 5 NA 1 1 3.88E-20 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 58289533 A T - - - - - - 29 0 0 50 9 18 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.839429393 0.839429393 1 0.959964365 0.959964365 1 NA NA 0 NA NA 1 5 NA 1 1 4.07E-12 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 58334425 C T - - - - - - 31 0 0 48 9 18.8 51 16 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.876737366 0.876737366 1 1.712663697 0.856331849 2 NA NA 0 NA NA 1 5 NA 1 1 2.75E-12 1 9.28E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 58500649 G T - - - - - - 28 0 0 43 5 11.6 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.540965609 0.540965609 1 0.959964365 0.959964365 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000257 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 58667231 A T - - - - - - 37 0 0 46 6 13 49 12 24.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.606254561 0.606254561 1 1.336314031 1.336314031 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000123 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 62088909 A T - - - - - - 28 0 0 33 6 18.2 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 1.305122494 1.305122494 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 62244296 A G - - - - - - 46 0 0 49 9 18.4 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-12 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 62371123 T G - - - - - - 44 0 0 38 9 23.7 36 2 5.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 0.249443207 0.249443207 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 0.014070883 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 62479981 G T KHDRBS2 CCDS4963.1 r.? - - intronic 32 0 0 40 8 20 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 62495461 A T KHDRBS2 CCDS4963.1 r.? - - intronic 36 0 0 46 12 26.1 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.00967118 1.00967118 1 0.605790646 0.605790646 1 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 62522936 C G KHDRBS2 CCDS4963.1 r.? - - intronic 35 0 0 38 11 28.9 58 15 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.153674833 1.153674833 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 7.42E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 62522964 A T KHDRBS2 CCDS4963.1 r.? - - intronic 36 0 0 40 11 27.5 56 15 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 1.19376392 1.19376392 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 4.09E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 62591771 C T KHDRBS2 CCDS4963.1 r.? - - intronic 37 0 0 40 7 17.5 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.676982592 0.676982592 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 62690974 G T KHDRBS2 CCDS4963.1 r.? - - intronic 25 0 0 35 10 28.6 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.541202673 1.541202673 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 62856485 T C KHDRBS2 CCDS4963.1 r.? - - intronic 24 0 0 40 10 25 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 62954226 T A KHDRBS2 CCDS4963.1 r.? - - intronic 37 0 0 35 9 25.7 39 11 28.2 0 0 NA 0 0 NA 4 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 1.256124722 1.256124722 1 NA NA 1 0 0 1 5 NA 1 1 1.23E-13 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 63062064 T G - - - - - - 34 0 0 50 11 22 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 63112261 C A - - - - - - 21 0 0 42 7 16.7 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 63957818 G A - - - - - - 41 0 0 32 9 28.1 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 63979857 C G - - - - - - 28 0 0 37 8 21.6 56 11 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.873051225 0.873051225 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 5.91E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 64128684 T C - - - - - - 32 0 0 25 6 24 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.928433269 0.928433269 1 1.398663697 1.398663697 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 64481676 G T EYS CCDS47445.1 r.? - - intronic 51 0 0 44 10 22.7 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 64491988 G A EYS CCDS47445.1 r.? - - intronic 35 0 0 36 9 25 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 64610333 G A EYS CCDS47445.1 r.? - - intronic 30 0 0 49 10 20.4 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.789168279 0.789168279 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-14 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 65862502 T A EYS CCDS47445.1 r.? - - intronic 43 0 0 30 9 30 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 66056747 G C EYS CCDS47445.1 r.? - - intronic 40 0 0 28 9 32.1 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.241779497 1.241779497 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 66300834 A G EYS CCDS47446.1 r.? - - intronic 35 0 0 27 6 22.2 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 4.23E-09 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 67040348 C G - - - - - - 40 0 0 40 7 17.5 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.676982592 0.676982592 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 67144834 A T - - - - - - 36 0 0 50 17 34 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.315280464 1.315280464 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 6.43E-27 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 67250998 G C - - - - - - 32 0 0 36 5 13.9 27 2 7.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.537717602 0.537717602 1 0.329621381 0.329621381 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000104 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 67715361 T A - - - - - - 38 0 0 42 5 11.9 58 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.460348162 0.460348162 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000228 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 68715472 T A - - - - - - 34 0 0 49 15 30.6 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 4.1E-23 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 69055239 G T - - - - - - 27 0 0 35 10 28.6 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 69272264 T C - - - - - - 29 0 0 32 10 31.2 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 69275207 T A - - - - - - 41 0 0 52 13 25 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 6.47E-19 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 69461337 C T BAI3 CCDS4968.1 r.? - - intronic 43 0 0 36 9 25 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 69469866 G T BAI3 CCDS4968.1 r.? - - intronic 36 0 0 30 6 20 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 8.37E-09 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 69492812 A T BAI3 CCDS4968.1 r.? - - intronic 31 0 0 34 6 17.6 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-08 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 69514353 T A BAI3 CCDS4968.1 r.? - - intronic 32 0 0 42 17 40.5 55 9 16.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.566731141 1.566731141 1 0.730512249 0.730512249 1 NA NA 1 NA NA 1 5 NA 1 1 1.73E-28 1 1.01E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 69749549 A T BAI3 CCDS4968.1 r.? - - intronic 37 0 0 39 7 17.9 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 69833924 C G BAI3 CCDS4968.1 r.? - - intronic 35 0 0 33 7 21.2 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 0.659242762 0.659242762 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 70086520 C A BAI3 CCDS4968.1 r.? - - intronic 45 0 0 46 14 30.4 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.176015474 1.176015474 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-21 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 70115447 T C - - - - - - 31 0 0 44 9 20.5 50 13 26 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.158129176 1.158129176 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 3.65E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 70127106 A T - - - - - - 30 0 0 36 7 19.4 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.650334076 0.650334076 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 70145080 T A - - - - - - 34 0 0 45 14 31.1 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.203094778 1.203094778 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 70164107 A G - - - - - - 46 0 0 35 9 25.7 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 70423796 T C LMBRD1 CCDS4969.1 r.? - - intronic 33 0 0 31 7 22.6 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 70625821 C G COL19A1 CCDS4970.1 r.? - - intronic 17 0 0 25 5 20 22 5 22.7 0 0 NA 1 1 100 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.011135857 1.011135857 1 3.868471954 3.868471954 1 NA NA 1 5 NA 1 1 0.000000153 0.005 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 70685854 T C COL19A1 CCDS4970.1 r.? - - intronic 48 0 0 35 14 40 27 2 7.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.547388781 1.547388781 1 0.329621381 0.329621381 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-23 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 70926432 G T COL9A1 CCDS4971.1 r.3080c>a c.? p.? 3'UTR variant 30 0 0 43 11 25.6 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 71102301 G C - - - - - - 40 0 0 34 6 17.6 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-08 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 71293880 C A C6orf57 CCDS4972.1 r.? - - intronic 31 0 0 36 8 22.2 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 71301600 C T C6orf57 CCDS4972.1 r.? - - downstream 31 0 0 58 15 25.9 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.001934236 1.001934236 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 7.42E-22 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 71550186 C G SMAP1 CCDS43478.1 r.? - - intronic 42 0 0 38 7 18.4 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 71989796 T C - - - - - - 43 0 0 52 8 15.4 36 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.42E-10 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 72028603 G C - - - - - - 24 0 0 28 5 17.9 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000279 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 72308832 C G - - - - - - 24 0 0 46 8 17.4 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.67311412 0.67311412 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-11 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 72330491 C G - - - - - - 28 0 0 40 10 25 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 72396484 C T - - - - - - 36 0 0 39 10 25.6 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 72583719 T C - - - - - - 39 0 0 38 8 21.1 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 0.543429844 0.543429844 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 72609801 G A RIMS1 CCDS47449.1 r.? - - intronic 29 0 0 31 9 29 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 0.930957684 0.930957684 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 72950479 A T RIMS1 CCDS47449.1 r.? - - intronic 22 0 0 31 8 25.8 24 3 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 73054355 G A RIMS1 CCDS47449.1 r.? - - intronic 34 0 0 43 8 18.6 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 74078362 C T C6orf221 CCDS34484.1 r.? - - downstream 34 0 0 43 10 23.3 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.708240535 0.708240535 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 74733027 A G - - - - - - 33 0 0 35 12 34.3 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.32688588 1.32688588 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 74776728 C T - - - - - - 34 0 0 38 8 21.1 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 74868753 G T - - - - - - 32 0 0 44 7 15.9 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.615087041 0.615087041 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 75066915 G A - - - - - - 40 0 0 39 7 17.9 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 75067109 G A - - - - - - 45 0 0 41 11 26.8 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 75139858 G A - - - - - - 41 0 0 53 14 26.4 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.021276596 1.021276596 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 1.22E-20 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 75614252 G C - - - - - - 18 0 0 46 5 10.9 44 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.421663443 0.421663443 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000361 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 75887378 C A COL12A1 CCDS43482.1 r.2747+1g>u c.2437+1G>T p.? ess splice 32 0 0 46 10 21.7 56 12 21.4 153 1 0.7 82 15 18.3 80 35 43.8 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.839458414 0.839458414 1 0.953229399 0.953229399 1 0.707930368 0.707930368 1 1.951002227 1.951002227 1 5 4 1 0.535558142 3.38E-14 2.22E-19 1.11E-16 1.35E-58 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 6 76129365 G T FILIP1 CCDS4984.1 r.? - - intronic 27 0 0 39 13 33.3 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 76280926 G T - - - - - - 35 0 0 48 13 27.1 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.048355899 1.048355899 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 2E-19 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 76568189 G T MYO6 CCDS34487.1 r.? - - intronic 29 0 0 26 6 23.1 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.3E-09 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 76864486 C T - - - - - - 41 0 0 47 12 25.5 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 1.153674833 1.153674833 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 76990025 A G - - - - - - 24 0 0 42 13 31 26 6 23.1 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 2.72E-20 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 77104139 T A - - - - - - 32 0 0 42 16 38.1 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.473887814 1.473887814 1 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 2.25E-26 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 77137508 A T - - - - - - 27 0 0 43 16 37.2 44 15 34.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.439071567 1.439071567 1 1.518930958 1.518930958 1 NA NA 1 NA NA 1 5 NA 1 1 3.56E-26 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 77519841 C T - - - - - - 40 0 0 40 10 25 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 77628912 C A - - - - - - 34 0 0 33 10 30.3 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 0.948775056 0.948775056 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 77702986 G A - - - - - - 26 0 0 56 7 12.5 49 7 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 1.46E-08 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 78016651 G T - - - - - - 43 0 0 48 10 20.8 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 5.37E-14 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 78030998 A C - - - - - - 46 0 0 37 10 27 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 78096939 T C - - - - - - 53 0 0 40 12 30 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 78179702 G A - - - - - - 37 0 0 44 14 31.8 52 15 28.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.230174081 1.230174081 1 1.28285078 1.28285078 1 NA NA 1 NA NA 1 5 NA 1 1 6.1E-22 1 1.15E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 78470321 G T - - - - - - 31 0 0 32 10 31.2 27 3 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 78864697 T A - - - - - - 28 0 0 46 9 19.6 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 79015969 T G - - - - - - 27 0 0 18 13 72.2 19 10 52.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 2.79303675 2.79303675 1 2.34298441 2.34298441 1 NA NA 1 NA NA 1 5 NA 1 1 1.02E-26 1 8.66E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 79062121 G T - - - - - - 37 0 0 42 10 23.8 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 79278605 A T - - - - - - 28 0 0 37 9 24.3 56 13 23.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 1.033407572 1.033407572 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 1.89E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 79464133 C T - - - - - - 38 0 0 39 10 25.6 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 80306867 A T - - - - - - 29 0 0 41 7 17.1 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.832508704 0.832508704 1 0.83996882 0.83996882 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 80676680 C T - - - - - - 19 0 0 35 8 22.9 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.114880077 1.114880077 1 0.703610245 0.703610245 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 80833245 T G BCKDHB CCDS4994.1 r.? - - intronic 32 0 0 31 7 22.6 27 2 7.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.100274662 1.100274662 1 0.403621381 0.403621381 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 0.00807567 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 81071996 C T - - - - - - 39 0 0 49 11 22.4 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.090537718 1.090537718 1 1.401766147 1.401766147 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 81119682 A T - - - - - - 32 0 0 38 14 36.8 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.791597679 0.895798839 2 1.745389755 1.745389755 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 81220907 C G - - - - - - 29 0 0 45 7 15.6 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.759481625 0.759481625 1 1.325405345 1.325405345 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000003 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 81548476 A C - - - - - - 38 0 0 48 21 43.8 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.132390716 1.066195358 2 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 9.35E-36 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 81633957 T A - - - - - - 37 0 0 46 12 26.1 36 14 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.27067118 1.27067118 1 2.121739421 1.06086971 2 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 81642254 G A - - - - - - 38 0 0 46 9 19.6 49 15 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 1.669028953 0.834514477 2 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 4.1E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 82113759 A C - - - - - - 26 0 0 26 6 23.1 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.124617021 1.124617021 1 0.741790646 0.741790646 1 NA NA 1 NA NA 1 5 NA 1 1 3.3E-09 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 82246538 A C FAM46A ENST00000412306 r.? - - intronic 40 0 0 38 6 15.8 34 4 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.769218569 0.769218569 1 0.643612472 0.643612472 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 82293231 T A FAM46A ENST00000412306 r.? - - intronic 41 0 0 50 14 28 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.363172147 1.363172147 1 1.319951002 1.319951002 1 NA NA 1 NA NA 1 5 NA 1 1 4.84E-21 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 82507557 A C - - - - - - 23 0 0 41 11 26.8 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.304750484 1.304750484 1 1.210864143 1.210864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 82517415 G C - - - - - - 28 0 0 41 10 24.4 49 14 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.187907157 1.187907157 1 1.559942094 0.779971047 2 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 3.5E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 82713577 C G - - - - - - 27 0 0 29 8 27.6 39 4 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.343698259 1.343698259 1 0.561797327 0.561797327 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 83078799 A G TPBG CCDS4995.1 r.4738a>g c.? p.? 3'UTR variant 27 0 0 32 11 34.4 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.674754352 0.837377176 2 1.325405345 1.325405345 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 83588979 T A - - - - - - 43 0 0 27 8 29.6 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.441067698 1.441067698 1 1.325405345 1.325405345 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 83728537 C G UBE2CBP CCDS34491.1 r.? - - intronic 38 0 0 39 12 30.8 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.499489362 1.499489362 1 1.489035635 1.489035635 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 83740790 G A UBE2CBP CCDS34491.1 r.? - - intronic 40 0 0 41 13 31.7 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.543305609 1.543305609 1 1.118140312 1.118140312 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 83920852 T A ME1 CCDS34492.1 r.2627a>u c.? p.? 3'UTR variant 33 0 0 45 8 17.8 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.866588008 0.866588008 1 1.025416481 1.025416481 1 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 84272016 C T SNAP91 CCDS47455.1 r.? - - intronic 30 0 0 36 18 50 46 19 41.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.434235977 1.217117988 2 2.252643653 1.126321826 2 NA NA 1 NA NA 1 5 NA 1 1 3.18E-32 1 6.97E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 84302287 C T SNAP91 CCDS47455.1 r.? - - intronic 33 0 0 55 19 34.5 45 13 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.679622824 0.839811412 2 1.576305122 1.576305122 1 NA NA 1 NA NA 1 5 NA 1 1 4.51E-30 1 7.68E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 84305371 C A SNAP91 CCDS47455.1 r.? - - intronic 34 0 0 42 8 19 67 9 13.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.925009671 0.925009671 1 0.73088196 0.73088196 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 6.43E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 84502937 T G - - - - - - 29 0 0 43 12 27.9 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.358303675 1.358303675 1 1.412674833 1.412674833 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 84709163 C A - - - - - - 34 0 0 47 17 36.2 33 3 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.762386847 0.881193424 2 0.496345212 0.496345212 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-27 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 84799911 C G MRAP2 CCDS5001.1 r.1464c>g c.? p.? 3'UTR variant 30 0 0 55 23 41.8 38 15 39.5 0 0 NA 2 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.035021277 1.017510638 2 2.154465479 1.077232739 2 0 0 1 NA NA 1 5 NA 1 1 1.91E-38 1 4.24E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 85008631 G T - - - - - - 36 1 2.8 59 15 25.4 30 3 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.236591876 1.236591876 1 0.545434298 0.545434298 1 NA NA 1 NA NA 1 5 NA 0.165106833 1 9.9E-22 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 85016674 T A - - - - - - 29 0 0 42 7 16.7 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.813034816 0.813034816 1 1.123594655 1.123594655 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 85017668 G C - - - - - - 44 0 0 41 9 22 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.07106383 1.07106383 1 0.779971047 0.779971047 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 85077903 G T - - - - - - 25 0 0 45 17 37.8 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.840282398 0.920141199 2 1.227227171 1.227227171 1 NA NA 1 NA NA 1 5 NA 1 1 7.37E-28 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 85273602 C A - - - - - - 27 0 0 41 9 22 42 2 4.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.07106383 1.07106383 1 0.261808463 0.261808463 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 0.018854633 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 85293223 A T - - - - - - 30 0 0 42 6 14.3 20 3 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 0.818151448 0.818151448 1 NA NA 1 NA NA 1 5 NA 1 1 7.02E-08 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 85460546 A T TBX18 CCDS34495.1 r.? - - intronic 42 0 0 51 10 19.6 51 11 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 1.178138085 1.178138085 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-13 1 1.94E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 85520382 G A - - - - - - 48 0 0 42 8 19 57 9 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.925009671 0.925009671 1 0.861786192 0.861786192 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 1.42E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 85688531 A T - - - - - - 28 0 0 64 11 17.2 43 4 9.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.837377176 0.837377176 1 0.507253898 0.507253898 1 NA NA 1 NA NA 1 5 NA 1 1 2.85E-14 1 0.000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 85885719 T A - - - - - - 42 0 0 43 16 37.2 49 15 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.811071567 0.905535783 2 1.669028953 0.834514477 2 NA NA 1 NA NA 1 5 NA 1 1 3.56E-26 1 4.1E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 86029845 G T - - - - - - 38 0 0 47 7 14.9 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.725402321 0.725402321 1 0.981781737 0.981781737 1 NA NA 1 NA NA 1 5 NA 1 1 4.12E-09 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 86114607 A G - - - - - - 29 0 0 58 28 48.3 48 14 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.351471954 1.175735977 2 1.592668151 0.796334076 2 NA NA 1 NA NA 1 5 NA 1 1 9.36E-49 1 2.51E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 86149641 A T - - - - - - 45 0 0 53 15 28.3 50 19 38 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.377777563 1.377777563 1 2.072650334 1.036325167 2 NA NA 1 NA NA 1 5 NA 1 1 1.6E-22 1 5E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 86395869 T G - - - - - - 37 0 0 42 20 47.6 49 23 46.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.31739265 1.158696325 2 2.55808686 1.27904343 2 NA NA 1 NA NA 1 5 NA 1 1 4.41E-35 1 6.14E-40 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 86801603 C T - - - - - - 20 0 0 34 5 14.7 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.715665377 0.715665377 1 0.779971047 0.779971047 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 87030289 G C - - - - - - 20 0 0 55 14 25.5 45 5 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.241460348 1.241460348 1 0.605432071 0.605432071 1 NA NA 1 NA NA 1 5 NA 1 1 2.19E-20 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 87071092 T C - - - - - - 34 0 0 46 8 17.4 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.84711412 0.84711412 1 1.46176392 1.46176392 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-11 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 87187517 A G - - - - - - 32 0 0 49 12 24.5 43 3 7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.192775629 1.192775629 1 0.381804009 0.381804009 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 0.001328364 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 87422731 G A - - - - - - 26 0 0 46 10 21.7 52 8 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.056458414 1.056458414 1 0.83996882 0.83996882 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-14 1 2.42E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 87424177 G C - - - - - - 47 0 0 41 12 29.3 44 19 43.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.426462282 1.426462282 1 2.356276169 1.178138085 2 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 2.39E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 87455082 C G - - - - - - 32 0 0 43 8 18.6 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.905535783 0.905535783 1 0.83996882 0.83996882 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 87524401 A T - - - - - - 41 0 0 67 32 47.8 49 21 42.9 0 0 NA 2 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.327129594 1.163564797 2 2.33991314 1.16995657 2 0 0 1 NA NA 1 5 NA 1 1 2.63E-55 1 1.63E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 87537690 C T - - - - - - 39 0 0 46 9 19.6 45 5 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 0.605432071 0.605432071 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 87742753 T C - - - - - - 49 0 0 30 10 33.3 45 12 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 6.03E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 87874926 G C ZNF292 CCDS47457.1 r.? - - intronic 30 0 0 41 9 22 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 88029786 G C C6orf162 CCDS34496.1 r.? - - upstream 28 0 0 35 7 20 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 88121768 C T C6orf165 CCDS34498.1 r.? - - intronic 31 0 0 41 11 26.8 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 1.305122494 1.305122494 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 88195666 T G SLC35A1 CCDS5010.1 r.? - - intronic 34 0 0 38 15 39.5 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.528046422 1.528046422 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-25 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 88829683 C T - - - - - - 30 0 0 33 9 27.3 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 88902744 T A - - - - - - 37 0 0 37 7 18.9 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 88984304 G T - - - - - - 41 1 2.4 31 7 22.6 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 0.18577148 1 1.85E-10 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 89217400 G A - - - - - - 26 0 0 37 10 27 18 2 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 0.003626632 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 89249937 C A - - - - - - 35 0 0 34 9 26.5 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 90197715 C T ANKRD6 CCDS47460.1 r.? - - intronic 37 0 0 32 6 18.8 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 90269861 G A ANKRD6 CCDS47460.1 r.? - - intronic 20 0 0 31 7 22.6 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 0.538975501 0.538975501 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 90487608 G C MDN1 CCDS5024.1 r.? - - intronic 40 0 0 41 15 36.6 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.415860735 1.415860735 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.71E-24 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 90898300 A T BACH2 CCDS5026.1 r.? - - intronic 46 0 0 34 5 14.7 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.568665377 0.568665377 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 90898301 C G BACH2 CCDS5026.1 r.? - - intronic 47 0 0 35 5 14.3 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 91417435 C A - - - - - - 32 0 0 41 14 34.1 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 0.543429844 0.543429844 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-22 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 91475983 T C - - - - - - 34 0 0 35 8 22.9 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 91497409 G T - - - - - - 33 0 0 38 9 23.7 45 12 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 6.03E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 91572610 T C - - - - - - 45 0 0 32 6 18.8 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 91796065 G C - - - - - - 31 0 0 30 9 30 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.153674833 1.153674833 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 92583294 C T - - - - - - 44 0 0 39 11 28.2 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 92632372 A C - - - - - - 33 0 0 35 13 37.1 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.435203095 1.435203095 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 92657801 T G - - - - - - 29 0 0 38 5 13.2 32 1 3.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.510638298 0.510638298 1 0.138084633 0.138084633 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000137 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 92951624 A T - - - - - - 39 0 0 43 6 14 26 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.541586074 0.541586074 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 8.13E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 93163675 A T - - - - - - 37 0 0 40 10 25 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 93188924 G C - - - - - - 29 0 0 29 5 17.2 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.665377176 0.665377176 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000336 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 93353533 A G - - - - - - 31 0 0 38 11 28.9 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 93629246 G C - - - - - - 39 0 0 49 10 20.4 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.789168279 0.789168279 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-14 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 93688237 A T - - - - - - 27 0 0 41 17 41.5 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.605415861 1.605415861 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-28 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 93744244 G C - - - - - - 26 0 0 38 9 23.7 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 94232034 G T - - - - - - 31 0 0 38 15 39.5 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.528046422 1.528046422 1 0.516703786 0.516703786 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-25 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 94312579 A G - - - - - - 36 0 0 41 10 24.4 25 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 9.51E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 94492282 G T - - - - - - 36 0 0 40 13 32.5 43 13 30.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 1.345211581 1.345211581 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 3.88E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 94725982 A T - - - - - - 42 0 0 36 7 19.4 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 95075349 T C - - - - - - 40 0 0 38 8 21.1 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 95104731 G T - - - - - - 29 0 0 44 7 15.9 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.615087041 0.615087041 1 1.527839644 1.527839644 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 95187945 A G - - - - - - 35 0 0 38 11 28.9 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 95234703 C A - - - - - - 34 0 0 45 13 28.9 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 7.68E-20 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 95443174 T G - - - - - - 28 0 0 43 9 20.9 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.808510638 0.808510638 1 1.527839644 1.527839644 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 95677688 C T - - - - - - 33 0 0 37 10 27 31 2 6.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.289532294 0.289532294 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 95902039 A T - - - - - - 24 0 0 44 11 25 37 2 5.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.240534521 0.240534521 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 95925082 G T - - - - - - 37 0 0 40 10 25 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.167037862 1.167037862 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 96098902 A T - - - - - - 36 0 0 47 7 14.9 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.576402321 0.576402321 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 4.12E-09 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 96155234 T C - - - - - - 30 0 0 38 11 28.9 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 96162938 G A - - - - - - 31 0 0 31 10 32.3 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 96217214 C A - - - - - - 32 0 0 48 14 29.2 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.12959381 1.12959381 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-21 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 96299155 A T - - - - - - 30 0 0 39 14 35.9 34 3 8.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.388781431 1.388781431 1 0.391982183 0.391982183 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 96715181 A T - - - - - - 32 0 0 40 5 12.5 35 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000178 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 97131718 G T AL132776.1 ENST00000500007 r.? - - intronic 42 0 0 37 5 13.5 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.522243714 0.522243714 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000119 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 97355403 G T - - - - - - 42 0 0 35 13 37.1 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.435203095 1.435203095 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 98225101 C A - - - - - - 33 0 0 39 12 30.8 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 0.516703786 0.516703786 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 98844075 G C - - - - - - 43 0 0 34 8 23.5 44 15 34.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 1.518930958 1.518930958 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 99064774 A T - - - - - - 45 0 0 50 13 26 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.005802708 1.005802708 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.65E-19 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 99102900 G T - - - - - - 34 0 0 58 22 37.9 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.46615087 1.46615087 1 1.532293987 1.532293987 1 NA NA 1 NA NA 1 5 NA 1 1 1.13E-35 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 99230348 G A - - - - - - 37 0 0 30 5 16.7 41 13 31.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.412026726 1.412026726 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 1.89E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 99553947 A C - - - - - - 34 0 0 32 14 43.8 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.694390716 1.694390716 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 99589786 G A - - - - - - 29 0 0 40 12 30 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 100000690 G A CCNC CCDS34502.1 r.? - - intronic 38 0 0 31 7 22.6 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 100216277 G T - - - - - - 41 0 0 39 11 28.2 39 13 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 8.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 100250945 C T - - - - - - 35 0 0 43 13 30.2 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.16827853 1.16827853 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-20 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 100571983 C T - - - - - - 27 0 0 38 8 21.1 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 100916515 A T SIM1 CCDS5045.1 r.? - - upstream 46 0 0 49 15 30.6 51 8 15.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 0.699331849 0.699331849 1 NA NA 1 NA NA 1 5 NA 1 1 4.1E-23 1 2.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 100947259 C G - - - - - - 35 0 0 49 6 12.2 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.471953578 0.471953578 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000182 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 101059173 A T ASCC3 CCDS5046.1 r.? - - intronic 37 0 0 32 4 12.5 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000201 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 101080610 T A ASCC3 CCDS5046.1 r.? - - intronic 38 0 0 35 12 34.3 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.32688588 1.32688588 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 101533597 T A - - - - - - 47 0 0 43 8 18.6 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 101609140 T C - - - - - - 36 0 0 45 9 20 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.532293987 1.532293987 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-12 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 101720915 A T - - - - - - 45 0 0 46 12 26.1 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.00967118 1.00967118 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 101811469 C T - - - - - - 36 0 0 62 10 16.1 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.622823985 0.622823985 1 0.579064588 0.579064588 1 NA NA 1 NA NA 1 5 NA 1 1 8.29E-13 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 102054509 C G GRIK2 CCDS5049.1 r.? - - intronic 39 0 0 29 7 24.1 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.932301741 0.932301741 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 102093905 A T GRIK2 CCDS5049.1 r.? - - intronic 41 0 0 43 9 20.9 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.808510638 0.808510638 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 102260796 G T GRIK2 CCDS5049.1 r.? - - intronic 44 0 0 30 6 20 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 8.37E-09 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 102425662 C G GRIK2 CCDS5049.1 r.? - - intronic 30 0 0 45 10 22.2 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 102533132 A T - - - - - - 39 0 0 36 10 27.8 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 102547892 C T - - - - - - 28 0 0 47 8 17 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.657640232 0.657640232 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-10 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 102575393 A T - - - - - - 32 0 0 41 10 24.4 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 102602087 G T - - - - - - 33 0 0 45 11 24.4 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-16 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 102761836 G A - - - - - - 22 0 0 29 8 27.6 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 102835796 C A - - - - - - 41 0 0 34 11 32.4 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 102914883 A G - - - - - - 25 0 0 42 9 21.4 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.527839644 1.527839644 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 102985504 A G - - - - - - 37 0 0 45 14 31.1 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.203094778 1.203094778 1 1.572383073 1.572383073 1 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 103217193 C A - - - - - - 30 0 0 29 9 31 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 103383493 A T - - - - - - 41 0 0 35 10 28.6 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 103399968 C A - - - - - - 36 0 0 46 11 23.9 38 14 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.924564797 0.924564797 1 1.639198218 1.639198218 1 NA NA 1 NA NA 1 5 NA 1 1 5.55E-16 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 103605099 C T - - - - - - 28 0 0 35 5 14.3 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 103674439 G T - - - - - - 39 0 0 38 12 31.6 37 16 43.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 1.924276169 1.924276169 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 1.78E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 103756151 T C - - - - - - 15 0 0 14 8 57.1 22 9 40.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 2.208897485 2.208897485 1 1.821826281 1.821826281 1 NA NA 1 NA NA 1 5 NA 1 1 1.14E-15 1 9.16E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 103853157 G T - - - - - - 31 0 0 41 12 29.3 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 103934234 G T - - - - - - 29 0 0 40 9 22.5 36 10 27.8 0 0 NA 0 0 NA 7 7 100 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.23830735 1.23830735 1 NA NA 1 4.454342984 4.454342984 1 5 NA 1 1 4.64E-13 1 2.21E-15 7.81E-17 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 104182576 C G - - - - - - 20 0 0 24 6 25 22 10 45.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 2.026726058 2.026726058 1 NA NA 1 NA NA 1 5 NA 1 1 1.95E-09 1 5.98E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 104522226 C A - - - - - - 38 0 0 30 13 43.3 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.675048356 1.675048356 1 1.53674833 1.53674833 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 104612586 T C - - - - - - 38 0 0 30 8 26.7 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 104639388 C T - - - - - - 34 0 0 63 18 28.6 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.538975501 0.538975501 1 NA NA 1 NA NA 1 5 NA 1 1 7.98E-27 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 104742907 T A - - - - - - 30 0 0 32 12 37.5 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 104982973 G C - - - - - - 32 0 0 46 14 30.4 36 11 30.6 10 0 0 4 0 0 7 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.176015474 1.176015474 1 1.363028953 1.363028953 1 0 0 1 0 0 1 5 NA 1 1 1.26E-21 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 105018370 C A - - - - - - 27 0 0 37 10 27 27 3 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 105805077 T C PREP CCDS5053.1 r.? - - intronic 47 0 0 30 9 30 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 106015501 T C - - - - - - 29 0 0 44 9 20.5 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.948775056 0.948775056 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 106031133 G A - - - - - - 38 0 0 35 7 20 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 106238397 T C - - - - - - 32 0 0 43 7 16.3 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.630560928 0.630560928 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.15E-09 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 106511882 A T - - - - - - 23 0 0 44 10 22.7 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 106581423 G C - - - - - - 29 0 0 44 9 20.5 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 106833562 C A - - - - - - 39 0 0 37 12 32.4 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 107142816 G C - - - - - - 42 0 0 37 7 18.9 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 107198736 T A - - - - - - 47 0 0 36 7 19.4 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 107289404 G A - - - - - - 28 0 0 34 13 38.2 35 3 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.477756286 1.477756286 1 0.383073497 0.383073497 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 107374967 T A C6orf203 CCDS5058.1 r.? - - downstream 42 0 0 33 9 27.3 21 2 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.423162584 0.423162584 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 107432394 C G BEND3 CCDS34507.1 r.? - - intronic 27 0 0 55 19 34.5 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.334622824 1.334622824 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 4.51E-30 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 107933233 C A SOBP CCDS43488.1 r.? - - intronic 44 0 0 26 6 23.1 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.3E-09 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 108021203 C A SCML4 ENST00000369022 r.? - - downstream 33 0 0 36 10 27.8 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 108036214 T C SCML4 CCDS5060.2 r.? - - intronic 20 0 0 21 6 28.6 25 3 12 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.534521158 0.534521158 1 NA NA 1 NA NA 1 5 NA 1 1 7.95E-10 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 108240742 T G SEC63 CCDS5061.1 r.? - - intronic 23 0 0 44 10 22.7 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 108258736 C A SEC63 CCDS5061.1 r.? - - intronic 21 0 0 37 10 27 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 108554275 T C SNX3 CCDS5064.1 r.? - - intronic 27 0 0 41 10 24.4 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 109000142 T A FOXO3 CCDS5068.1 r.? - - intronic 16 0 0 31 6 19.4 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-08 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 109173276 C T ARMC2 CCDS5069.2 r.? - - intronic 35 0 0 49 16 32.7 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.264990329 1.264990329 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 4.37E-25 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 109227143 C G ARMC2 CCDS5069.2 r.? - - intronic 27 0 0 32 8 25 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 109559304 C T - - - - - - 16 0 0 37 9 24.3 29 3 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 0.458797327 0.458797327 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 110321564 G A - - - - - - 30 0 0 39 7 17.9 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 110346044 G T - - - - - - 31 0 0 42 7 16.7 23 3 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.579064588 0.579064588 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 110529124 A C CDC40 CCDS5081.1 r.? - - intronic 45 0 0 37 13 35.1 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.357833656 1.357833656 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 110589650 G C C6orf186 CCDS43489.1 r.? - - intronic 39 0 0 58 19 32.8 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.268858801 1.268858801 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-29 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 110794309 A T SLC22A16 CCDS5084.1 r.? - - intronic 19 0 0 38 13 34.2 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 110908873 T C - - - - - - 39 0 0 39 9 23.1 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 111451005 T C SLC16A10 CCDS5089.1 r.? - - intronic 33 0 0 45 7 15.6 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000003 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 111990543 C T FYN CCDS5095.1 r.? - - intronic 28 0 0 43 12 27.9 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 112077503 T A FYN CCDS5095.1 r.? - - intronic 31 0 0 38 8 21.1 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 112168720 A T FYN CCDS5095.1 r.? - - intronic 31 0 0 43 12 27.9 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 112191609 A G FYN CCDS5095.1 r.? - - intronic 31 0 0 34 9 26.5 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 112303140 C G - - - - - - 27 0 0 37 13 35.1 52 14 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.357833656 1.357833656 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 9.04E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 112324627 G T - - - - - - 35 0 0 33 7 21.2 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 112675839 C T RFPL4B ENST00000441065 r.? - - downstream 30 0 0 37 11 29.7 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.14893617 1.14893617 1 0.708240535 0.708240535 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 112681579 C G - - - - - - 30 0 0 34 7 20.6 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 112716373 C A - - - - - - 26 0 0 41 13 31.7 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 113068696 A C - - - - - - 44 0 0 48 10 20.8 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 5.37E-14 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 113270590 G A - - - - - - 39 0 0 33 9 27.3 44 13 29.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.31403118 1.31403118 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 5.49E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 113377284 G C - - - - - - 40 0 0 41 5 12.2 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.471953578 0.471953578 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000202 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 113809088 C T - - - - - - 38 0 0 29 6 20.7 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.800773694 0.800773694 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 113900950 C G - - - - - - 30 0 0 53 15 28.3 34 4 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.094777563 1.094777563 1 0.525612472 0.525612472 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-22 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 114567995 C T - - - - - - 28 0 0 34 6 17.6 33 3 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 0.405345212 0.405345212 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-08 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 114775913 C G - - - - - - 39 0 0 25 6 24 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.928433269 0.928433269 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 115012000 G T - - - - - - 32 0 0 40 13 32.5 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 1.153674833 1.153674833 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 115361365 A G - - - - - - 31 0 0 33 13 39.4 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.52417795 1.52417795 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 115383519 A C - - - - - - 35 0 0 40 8 20 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 115383524 A G - - - - - - 34 0 0 40 6 15 47 7 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.580270793 0.580270793 1 0.663697105 0.663697105 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-08 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 115630851 A T - - - - - - 37 0 0 51 6 11.8 44 1 2.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.456479691 0.456479691 1 0.102449889 0.102449889 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000232 1 0.197923942 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 115764717 A T - - - - - - 63 0 0 43 13 30.2 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.16827853 1.16827853 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-20 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 116001656 G T - - - - - - 28 0 0 44 14 31.8 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.230174081 1.230174081 1 1.634743875 1.634743875 1 NA NA 1 NA NA 1 5 NA 1 1 6.1E-22 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 116249518 C G - - - - - - 22 0 0 35 7 20 13 5 38.5 0 0 NA 2 2 100 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.714922049 1.714922049 1 3.868471954 3.868471954 1 NA NA 1 5 NA 1 1 4.65E-10 0.000025 3.89E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 116262806 C A FRK CCDS5103.1 r.2736g>u c.? p.? 3'UTR variant 40 0 0 35 5 14.3 51 9 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 116656340 T C DSE CCDS5107.1 r.? - - intronic 25 0 0 34 8 23.5 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 117124641 G T GPRC6A CCDS5112.1 r.? - - intronic 29 0 0 40 7 17.5 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.676982592 0.676982592 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 117344392 C T - - - - - - 49 0 0 45 15 33.3 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 9.14E-24 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 117496764 G C - - - - - - 33 0 0 44 11 25 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.712694878 0.712694878 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 117976410 G A - - - - - - 40 0 0 44 10 22.7 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.828507795 0.828507795 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 118027793 C G NUS1 CCDS5118.1 r.? - - intronic 28 0 0 38 14 36.8 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.423597679 1.423597679 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 118037072 G A - - - - - - 29 0 0 46 18 39.1 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.512572534 1.512572534 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 9.41E-30 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 118134718 T A - - - - - - 39 0 0 35 7 20 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 118244602 G T SLC35F1 CCDS34524.1 r.? - - intronic 18 0 0 45 8 17.8 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.688588008 0.688588008 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 118253807 T A SLC35F1 CCDS34524.1 r.? - - intronic 33 0 0 43 14 32.6 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 118645515 G T - - - - - - 39 0 0 43 8 18.6 37 4 10.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 0.481069042 0.481069042 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 118820949 G C C6orf204 CCDS43498.1 r.? - - intronic 36 0 0 38 9 23.7 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 118826295 T G C6orf204 CCDS43498.1 r.? - - intronic 39 0 0 43 8 18.6 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 118981961 G C C6orf204 ENST00000392500 r.? - - intronic 37 0 0 44 11 25 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.135857461 1.135857461 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 119511602 G A MAN1A1 CCDS5122.1 r.? - - intronic 40 0 0 39 9 23.1 38 2 5.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.236080178 0.236080178 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 119618601 T G MAN1A1 CCDS5122.1 r.? - - intronic 43 0 0 47 11 23.4 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.905222437 0.905222437 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 7.21E-16 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 120530106 G T - - - - - - 42 0 0 47 6 12.8 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.49516441 0.49516441 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000141 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 120573739 G T - - - - - - 33 0 0 42 10 23.8 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 120648125 T G - - - - - - 30 0 0 38 13 34.2 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 120658712 A T - - - - - - 38 0 0 41 11 26.8 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 120997528 T C - - - - - - 34 0 0 41 13 31.7 46 12 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 1.162583519 1.162583519 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 8.12E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 121209310 T G - - - - - - 27 0 0 42 11 26.2 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.013539652 1.013539652 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 121690164 T A - - - - - - 31 0 0 45 16 35.6 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.377176015 1.377176015 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-26 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 122142142 T C - - - - - - 37 0 0 44 12 27.3 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 122374598 A T - - - - - - 29 0 0 47 14 29.8 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.152804642 1.152804642 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 122449737 C A - - - - - - 37 0 0 33 9 27.3 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 122511124 G C - - - - - - 42 0 0 37 10 27 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 122517765 C A - - - - - - 27 0 0 31 11 35.5 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.373307544 1.373307544 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 123249994 G T - - - - - - 29 0 0 42 13 31 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 2.72E-20 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 123450157 G C - - - - - - 33 0 0 39 12 30.8 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 123452254 C G - - - - - - 35 0 0 42 9 21.4 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 124331366 T A NKAIN2 CCDS34526.1 r.? - - intronic 39 0 0 25 4 16 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.618955513 0.618955513 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000727 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 124520514 C T NKAIN2 CCDS34526.1 r.? - - intronic 30 0 0 39 7 17.9 55 16 29.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.296213808 1.296213808 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 3.78E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 124744317 T C NKAIN2 CCDS34526.1 r.? - - intronic 28 0 0 32 9 28.1 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 0.930957684 0.930957684 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 124856674 C T NKAIN2 CCDS34526.1 r.? - - intronic 46 0 0 47 9 19.1 31 1 3.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.738878143 0.738878143 1 0.142538976 0.142538976 1 NA NA 1 NA NA 1 3 NA 1 1 2.24E-12 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 125419104 G A - - - - - - 29 0 0 36 10 27.8 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 125435601 A G - - - - - - 38 0 0 41 14 34.1 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-22 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 125806642 C T - - - - - - 30 0 0 38 13 34.2 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 126016926 A T - - - - - - 29 0 0 35 10 28.6 25 8 32 2 0 0 1 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.425389755 1.425389755 1 0 0 1 NA NA 1 5 NA 1 1 1.6E-15 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 126037927 G A - - - - - - 31 0 0 45 7 15.6 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000003 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 126127457 C T NCOA7 CCDS5132.1 r.? - - intronic 31 0 0 36 8 22.2 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.930957684 0.930957684 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 126625487 G T - - - - - - 34 0 0 36 10 27.8 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 126721077 C G - - - - - - 30 0 0 34 12 35.3 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.3655706 1.3655706 1 0.659242762 0.659242762 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 127321203 A G - - - - - - 30 0 0 44 15 34.1 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 6.12E-24 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 127533530 A C - - - - - - 36 0 0 42 11 26.2 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.013539652 1.013539652 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 128283837 C G - - - - - - 38 0 0 36 8 22.2 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 128496880 A G PTPRK CCDS47473.1 r.? - - intronic 35 0 0 43 8 18.6 41 15 36.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 1.630289532 1.630289532 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 1.71E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 128522248 G C PTPRK CCDS47473.1 r.? - - intronic 21 0 0 27 9 33.3 22 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 128628517 C A PTPRK CCDS47473.1 r.? - - intronic 37 0 0 39 8 20.5 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.581291759 1.581291759 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 129031631 G T - - - - - - 39 0 0 52 16 30.8 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-24 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 129318767 C A LAMA2 CCDS5138.1 r.? - - intronic 38 0 0 34 13 38.2 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.477756286 1.477756286 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 129429598 T A LAMA2 CCDS5138.1 r.? - - intronic 34 0 0 26 9 34.6 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.338491296 1.338491296 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 129433167 T A LAMA2 CCDS5138.1 r.? - - intronic 25 0 0 41 13 31.7 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 129486965 C T LAMA2 CCDS5138.1 r.? - - intronic 43 1 2.3 40 10 25 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 0.193893409 1 7.22E-15 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 129713360 A T LAMA2 CCDS5138.1 r.? - - intronic 39 0 0 34 9 26.5 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 130797464 C T - - - - - - 41 0 0 32 10 31.2 34 3 8.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 0.391982183 0.391982183 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 130895967 C G - - - - - - 27 0 0 39 10 25.6 47 15 31.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.420935412 1.420935412 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 1.97E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 130910049 G C - - - - - - 35 0 0 48 14 29.2 57 11 19.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.12959381 1.12959381 1 0.859688196 0.859688196 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-21 1 7.29E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 131072672 G A - - - - - - 35 0 0 40 9 22.5 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 132427284 C G - - - - - - 29 0 0 37 8 21.6 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.855233853 0.855233853 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 132489044 T G - - - - - - 46 0 0 43 14 32.6 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 132532463 G T - - - - - - 45 0 0 33 11 33.3 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 132591354 A T - - - - - - 38 0 0 54 11 20.4 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.789168279 0.789168279 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 3.84E-15 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 132928244 G A - - - - - - 26 0 0 45 11 24.4 33 7 21.2 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.944320713 0.944320713 1 NA NA 1 0 0 1 5 NA 1 1 4.24E-16 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 133158006 G A - - - - - - 32 0 0 48 8 16.7 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-10 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 133232044 A G - - - - - - 30 0 0 40 15 37.5 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-24 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 133474539 C G - - - - - - 26 0 0 44 13 29.5 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 133686592 G A EYA4 CCDS5166.1 r.? - - intronic 32 0 0 44 10 22.7 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 133839288 G A EYA4 CCDS5166.1 r.? - - intronic 28 0 0 35 11 31.4 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 133908934 T A - - - - - - 36 0 0 38 8 21.1 36 5 13.9 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 0.619153675 0.619153675 1 NA NA 1 0 0 1 5 NA 1 1 1.67E-11 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 134062615 G C - - - - - - 34 0 0 46 9 19.6 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 134122335 A G - - - - - - 27 0 0 35 11 31.4 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 0.712694878 0.712694878 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 134155053 G A - - - - - - 29 0 0 33 7 21.2 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 134237330 G C - - - - - - 29 0 0 43 16 37.2 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.439071567 1.439071567 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 3.56E-26 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 134268375 G C TBPL1 ENST00000416965 r.? - - upstream 29 0 0 26 10 38.5 37 4 10.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.489361702 1.489361702 1 0.481069042 0.481069042 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 134403520 T A - - - - - - 20 0 0 36 7 19.4 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 134516362 A T SGK1 CCDS47476.1 r.? - - intronic 44 0 0 65 7 10.8 35 2 5.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.525794971 0.525794971 1 0.31089755 0.31089755 1 NA NA 1 NA NA 1 4 NA 1 1 4.22E-08 1 0.013332991 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 135077660 G C - - - - - - 22 0 0 51 5 9.8 45 5 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.477110251 0.477110251 1 0.605432071 0.605432071 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000606 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 135094858 G A - - - - - - 28 0 0 50 8 16 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.778955513 0.778955513 1 1.036325167 1.036325167 1 NA NA 1 NA NA 1 5 NA 1 1 1.74E-10 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 135461768 T A - - - - - - 41 0 0 69 32 46.4 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.258970986 1.129485493 2 1.636302895 0.818151448 2 NA NA 1 NA NA 1 5 NA 1 1 9.19E-55 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 135876926 C G - - - - - - 35 0 0 48 13 27.1 54 13 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.319355899 1.319355899 1 1.314496659 1.314496659 1 NA NA 1 NA NA 1 5 NA 1 1 2E-19 1 1.12E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 135909645 C G - - - - - - 27 0 0 47 22 46.8 46 13 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.278444874 1.139222437 2 1.543579065 1.543579065 1 NA NA 1 NA NA 1 5 NA 1 1 3.14E-38 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 135979913 A T - - - - - - 40 0 0 60 15 25 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 1.069051225 1.069051225 1 NA NA 1 NA NA 1 5 NA 1 1 1.31E-21 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 137303347 G C - - - - - - 41 0 0 63 12 19 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.925009671 0.925009671 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 5.15E-16 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 137319422 T C IL20RA CCDS5181.1 r.? - - downstream 59 0 0 54 21 38.9 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.89383559 0.946917795 2 1.690846325 0.845423163 2 NA NA 1 NA NA 1 5 NA 1 1 2.12E-34 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 137343976 T A IL20RA CCDS5181.1 r.? - - intronic 18 0 0 48 21 43.8 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.132390716 1.066195358 2 1.925383073 0.962691537 2 NA NA 1 NA NA 1 5 NA 1 1 9.35E-36 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 137978632 G A - - - - - - 30 0 0 60 35 58.3 53 8 15.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.838319149 1.419159574 2 0.823605791 0.823605791 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-64 1 2.83E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 138164834 G A - - - - - - 35 0 0 43 24 55.8 51 14 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.71660735 1.358303675 2 1.499944321 1.499944321 1 NA NA 1 NA NA 1 5 NA 1 1 4.35E-44 1 6.64E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 138190989 G A TNFAIP3 CCDS5187.1 r.? - - intronic 33 0 0 50 20 40 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.947388781 0.973694391 2 1.363585746 1.363585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.9E-33 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 138442363 G A - - - - - - 31 0 0 45 21 46.7 43 15 34.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.273576402 1.136788201 2 1.903565702 0.951782851 2 NA NA 1 NA NA 1 5 NA 1 1 1.6E-36 1 4.05E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 138462012 A T - - - - - - 35 0 0 58 14 24.1 52 8 15.4 0 0 NA 1 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.173301741 1.173301741 1 0.83996882 0.83996882 1 0 0 1 NA NA 1 5 NA 1 1 5.04E-20 1 2.42E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 138665700 A G KIAA1244 CCDS5189.2 r.14777a>g c.? p.? 3'UTR variant 41 0 0 56 6 10.7 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.520926499 0.520926499 1 1.167229399 1.167229399 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000409 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 138712597 C A - - - - - - 24 0 0 36 10 27.8 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.353435203 1.353435203 1 1.489035635 1.489035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 138721928 G T HEBP2 CCDS5191.1 r.? - - upstream 29 0 0 58 17 29.3 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.426462282 1.426462282 1 0.927238307 0.927238307 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-25 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 138880154 C G NHSL1 ENST00000342260 r.? - - intronic 22 0 0 49 18 36.7 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.786729207 0.893364603 2 1.816296214 0.908148107 2 NA NA 1 NA NA 1 5 NA 1 1 3.8E-29 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 139720277 C A - - - - - - 26 0 0 41 22 53.7 50 14 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.614369439 1.30718472 2 1.527216036 1.527216036 1 NA NA 1 NA NA 1 5 NA 1 1 5.33E-40 1 4.84E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 139896090 A C - - - - - - 23 0 0 34 11 32.4 36 13 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.577384913 1.577384913 1 1.969017817 0.984508909 2 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 139903628 C G - - - - - - 32 0 0 46 10 21.7 52 12 23.1 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.056458414 1.056458414 1 1.259953229 1.259953229 1 NA NA 1 0 0 1 5 NA 1 1 3.38E-14 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 140387934 A T - - - - - - 31 0 0 54 14 25.9 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.260934236 1.260934236 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-20 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 140885809 T G - - - - - - 40 0 0 60 14 23.3 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.134353965 1.134353965 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-20 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 141392725 G T - - - - - - 38 0 0 56 22 39.3 48 28 58.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.913309478 0.956654739 2 3.17988196 1.58994098 2 NA NA 1 NA NA 1 5 NA 1 1 4.34E-36 1 5.66E-52 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 141417131 G A - - - - - - 34 0 0 50 11 22 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.07106383 1.07106383 1 0.954510022 0.954510022 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 141520267 G T - - - - - - 34 0 0 63 12 19 49 9 18.4 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.925009671 0.925009671 1 1.003599109 1.003599109 1 NA NA 1 0 0 1 5 NA 1 1 5.15E-16 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 141969026 A T - - - - - - 28 0 0 54 21 38.9 52 14 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.89383559 0.946917795 2 1.467218263 1.467218263 1 NA NA 1 NA NA 1 5 NA 1 1 2.12E-34 1 9.04E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 142686028 T C GPR126 CCDS47490.1 r.? - - intronic 41 0 0 52 12 23.1 54 11 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.124617021 1.124617021 1 1.112685969 1.112685969 1 NA NA 1 NA NA 1 5 NA 1 1 4.19E-17 1 3.84E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 142747749 C T GPR126 CCDS47490.1 r.? - - intronic 39 0 0 57 14 24.6 39 5 12.8 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.197644101 1.197644101 1 0.698155902 0.698155902 1 NA NA 1 0 0 1 5 NA 1 1 3.84E-20 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 142755463 A T GPR126 CCDS47490.1 r.? - - intronic 31 0 0 57 11 19.3 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.939615087 0.939615087 1 0.889057906 0.889057906 1 NA NA 1 NA NA 1 5 NA 1 1 7.29E-15 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 142789726 A C - - - - - - 31 0 0 52 25 48.1 54 19 35.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 2.34173501 1.170867505 2 1.919928731 0.959964365 2 NA NA 1 NA NA 1 5 NA 1 1 1.25E-43 1 2.97E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 143362320 C G - - - - - - 31 0 0 42 21 50 34 18 52.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.934235977 0.967117988 2 2.356347439 1.178173719 2 NA NA 1 NA NA 1 5 NA 1 1 2.32E-37 1 7.79E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 143529048 A G AIG1 CCDS5198.1 r.? - - intronic 31 0 0 49 6 12.2 39 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.471953578 0.471953578 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000182 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 143630549 G T AIG1 CCDS5198.1 r.? - - intronic 34 0 0 30 16 53.3 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.061895551 1.030947776 2 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-29 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 144258015 G C PLAGL1 CCDS5202.1 r.? - - downstream 36 0 0 40 12 30 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 145782460 C T - - - - - - 42 0 0 31 13 41.9 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.620889749 0.810444874 2 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 145858800 C A EPM2A ENST00000450221 r.? - - intronic 29 0 0 44 9 20.5 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 146363539 A C GRM1 CCDS47497.1 r.? - - intronic 38 0 0 45 32 71.1 33 12 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.750483559 1.375241779 2 1.621380846 0.810690423 2 NA NA 1 NA NA 1 5 NA 1 1 1.6E-63 1 7.86E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 146507980 G T GRM1 CCDS47497.1 r.? - - intronic 34 0 0 38 16 42.1 41 22 53.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.628626692 0.814313346 2 2.391982183 1.195991091 2 NA NA 1 NA NA 1 5 NA 1 1 3.06E-27 1 5.33E-40 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 147764520 C T AL034350.1 ENST00000507806 r.? - - intronic 27 0 0 42 11 26.2 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.013539652 1.013539652 1 1.407572383 1.407572383 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 147770145 C A AL034350.1 ENST00000507806 r.? - - intronic 30 0 0 40 21 52.5 29 11 37.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.030947776 1.015473888 2 1.688195991 0.844097996 2 NA NA 1 NA NA 1 5 NA 1 1 5.72E-38 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 147852598 C A SAMD5 CCDS34548.1 r.? - - intronic 32 0 0 46 26 56.5 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.185686654 1.092843327 2 1.305122494 1.305122494 1 NA NA 1 NA NA 1 5 NA 1 1 7.59E-48 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 147852603 C A SAMD5 CCDS34548.1 r.? - - intronic 34 0 0 41 23 56.1 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.170212766 1.085106383 2 1.287305122 1.287305122 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-42 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 148958683 C T - - - - - - 28 0 0 47 19 40.4 35 15 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.562862669 0.781431335 2 1.91091314 0.95545657 2 NA NA 1 NA NA 1 5 NA 1 1 1.16E-31 1 9.02E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 149150845 T G UST CCDS5213.1 r.? - - intronic 28 0 0 42 25 59.5 30 13 43.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.301740812 1.150870406 2 1.928730512 0.964365256 2 NA NA 1 NA NA 1 5 NA 1 1 6.99E-47 1 1.35E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 149244200 C T UST CCDS5213.1 r.? - - intronic 36 0 0 43 12 27.9 27 3 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 149250086 C G UST CCDS5213.1 r.? - - intronic 36 0 0 31 7 22.6 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 0.659242762 0.659242762 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 149963678 C A KATNA1 CCDS5217.1 r.? - - intronic 31 0 0 37 17 45.9 45 19 42.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.775628627 0.887814313 2 1.879732739 0.93986637 2 NA NA 1 NA NA 1 5 NA 1 1 1.1E-29 1 4.11E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 150447421 T G - - - - - - 39 0 0 38 15 39.5 41 21 51.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.528046422 0.764023211 2 2.280623608 1.140311804 2 NA NA 1 NA NA 1 5 NA 1 1 4.24E-25 1 1.17E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 151074338 C T PLEKHG1 CCDS34552.1 r.? - - intronic 30 0 0 51 24 47.1 28 12 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.82205029 0.911025145 2 1.91091314 0.95545657 2 NA NA 1 NA NA 1 5 NA 1 1 1.2E-41 1 6.9E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 151559407 C T AKAP12 CCDS5229.1 r.? - - upstream 33 0 0 45 20 44.4 37 19 51.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.717601547 0.858800774 2 2.289532294 1.144766147 2 NA NA 1 NA NA 1 5 NA 1 1 2.68E-34 1 3.09E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 151632334 G A AKAP12 CCDS5229.1 r.? - - intronic 30 0 0 47 25 53.2 23 10 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.058027079 1.02901354 2 1.937639198 0.968819599 2 NA NA 1 NA NA 1 5 NA 1 1 3.98E-45 1 1.05E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 151845802 T A C6orf97 CCDS43515.1 r.? - - intronic 39 0 0 33 20 60.6 45 14 31.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.344294004 1.172147002 2 1.385300668 1.385300668 1 NA NA 1 NA NA 1 5 NA 1 1 5.14E-38 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 151858988 G A C6orf97 CCDS43515.1 r.? - - intronic 47 0 0 38 18 47.4 30 12 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.833655706 0.916827853 2 1.781737194 0.890868597 2 NA NA 1 NA NA 1 5 NA 1 1 1.16E-31 1 1.94E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 151920124 A G C6orf97 CCDS43515.1 r.? - - intronic 37 0 0 42 26 61.9 33 13 39.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.394584139 1.19729207 2 1.755011136 0.877505568 2 NA NA 1 NA NA 1 5 NA 1 1 2.3E-49 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 152103709 A T ESR1 CCDS5234.1 r.? - - intronic 49 0 0 42 10 23.8 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 152215291 G C ESR1 CCDS5234.1 r.? - - intronic 39 0 0 39 9 23.1 41 14 34.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.518930958 1.518930958 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 1.9E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 152351023 A T ESR1 CCDS5234.1 r.? - - intronic 29 0 0 47 22 46.8 27 12 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.810444874 0.905222437 2 1.977728285 0.988864143 2 NA NA 1 NA NA 1 5 NA 1 1 3.14E-38 1 3.96E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 152556592 G C SYNE1 CCDS5236.1 r.? - - intronic 24 0 0 46 33 71.7 31 16 51.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.773694391 1.386847195 2 2.29844098 1.14922049 2 NA NA 1 NA NA 1 5 NA 1 1 1.11E-65 1 4.27E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 152582263 G T SYNE1 CCDS5236.1 r.? - - intronic 40 0 0 41 10 24.4 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 152995443 T A - - - - - - 39 0 0 35 15 42.9 47 16 34 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.659574468 0.829787234 2 1.514476615 0.757238307 2 NA NA 1 NA NA 1 5 NA 1 1 9.02E-26 1 1.98E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 153540585 A T - - - - - - 45 0 0 34 15 44.1 42 19 45.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.705996132 0.852998066 2 2.013363029 1.006681514 2 NA NA 1 NA NA 1 5 NA 1 1 5.18E-26 1 7.64E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 153942923 C A - - - - - - 36 0 0 38 14 36.8 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.423597679 1.423597679 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 154165479 A T - - - - - - 28 0 0 49 28 57.1 38 18 47.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.208897485 1.104448743 2 2.111358575 1.055679287 2 NA NA 1 NA NA 1 5 NA 1 1 1.31E-51 1 1.16E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 154217565 T A - - - - - - 40 0 0 25 10 40 47 23 48.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.547388781 1.547388781 1 2.178173719 1.08908686 2 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 1.71E-40 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 154217566 A T - - - - - - 40 0 0 25 10 40 48 24 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.547388781 1.547388781 1 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 1.71E-42 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 155892572 G A - - - - - - 47 0 0 42 21 50 34 18 52.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.934235977 0.967117988 2 2.356347439 1.178173719 2 NA NA 1 NA NA 1 5 NA 1 1 2.32E-37 1 7.79E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 156041926 A G - - - - - - 32 0 0 25 14 56 29 12 41.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.166344294 1.083172147 2 1.844097996 0.922048998 2 NA NA 1 NA NA 1 5 NA 1 1 2.58E-26 1 1.17E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 156836735 T C - - - - - - 29 0 0 38 21 55.3 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.13926499 1.069632495 2 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-38 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 157395132 G T ARID1B CCDS5251.1 r.? - - intronic 31 0 0 45 24 53.3 42 21 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.061895551 1.030947776 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 2.03E-43 1 2.32E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 157725744 T A C6orf35 CCDS43519.1 r.? - - intronic 32 0 0 43 10 23.3 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 157759598 C A - - - - - - 32 0 0 41 23 56.1 26 13 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.170212766 1.085106383 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 2.21E-42 1 1.2E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 158013880 G T ZDHHC14 CCDS5252.1 r.? - - intronic 34 0 0 34 6 17.6 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-08 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 159600443 A T FNDC1 CCDS47512.1 r.? - - intronic 48 0 0 34 5 14.7 33 2 6.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.568665377 0.568665377 1 0.271714922 0.271714922 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000771 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 159805330 T C - - - - - - 31 0 0 37 14 37.8 41 16 39 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.462282398 1.462282398 1 1.737193764 0.868596882 2 NA NA 1 NA NA 1 5 NA 1 1 3.35E-23 1 1.4E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 160702978 G T SLC22A2 ENST00000366952 r.? - - upstream 34 0 0 44 17 38.6 39 20 51.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.493230174 0.746615087 2 2.285077951 1.142538976 2 NA NA 1 NA NA 1 5 NA 1 1 4.61E-28 1 6E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 160708983 G A - - - - - - 33 0 0 34 15 44.1 32 13 40.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.705996132 0.852998066 2 1.808463252 0.904231626 2 NA NA 1 NA NA 1 5 NA 1 1 5.18E-26 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 160975232 A T LPA CCDS43523.1 r.? - - intronic 31 0 0 43 24 55.8 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.15860735 1.079303675 2 1.714922049 0.857461024 2 NA NA 1 NA NA 1 5 NA 1 1 4.35E-44 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 161092735 A T - - - - - - 38 0 0 26 14 53.8 44 19 43.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.081237911 1.040618956 2 1.924276169 0.962138085 2 NA NA 1 NA NA 1 5 NA 1 1 5.57E-26 1 2.39E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 161117616 T A - - - - - - 32 0 0 41 12 29.3 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 161367455 T C - - - - - - 27 0 0 46 32 69.6 40 18 45 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.69245648 1.34622824 2 2.004454343 1.002227171 2 NA NA 1 NA NA 1 5 NA 1 1 5.22E-63 1 3.9E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 162181770 A C PARK2 CCDS5281.1 r.? - - intronic 36 0 0 45 7 15.6 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000003 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 162468104 G A PARK2 CCDS5281.1 r.? - - intronic 40 0 0 35 13 37.1 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.064203095 1.064203095 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 162990773 G A PARK2 CCDS5281.1 r.? - - intronic 21 0 0 33 11 33.3 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 163911576 T C QKI CCDS43525.1 r.? - - intronic 35 0 0 30 14 46.7 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.339576402 1.339576402 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 8.24E-25 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 164136892 G A - - - - - - 24 0 0 35 15 42.9 17 4 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 9.02E-26 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 164378542 G T - - - - - - 38 0 0 30 10 33.3 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.278106904 1.278106904 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 164452267 G A - - - - - - 36 0 0 26 15 57.7 20 4 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.655108317 1.655108317 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-28 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 164468943 G A - - - - - - 27 0 0 29 9 31 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 164475873 G T - - - - - - 36 0 0 34 11 32.4 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 164545171 A T - - - - - - 22 0 0 17 5 29.4 15 2 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.843330754 0.843330754 1 0.459427617 0.459427617 1 NA NA 1 NA NA 1 5 NA 1 1 1.84E-08 1 0.002513772 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 164663708 C T - - - - - - 33 0 0 20 8 40 18 8 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.533728285 1.533728285 1 NA NA 1 NA NA 1 5 NA 1 1 4.66E-14 1 1.63E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 165173845 A T - - - - - - 40 0 0 23 9 39.1 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 165893606 C A PDE10A CCDS5289.1 r.? - - intronic 35 0 0 23 5 21.7 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.622458414 0.622458414 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 9.75E-08 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 165919547 G T PDE10A CCDS5289.1 r.? - - intronic 40 0 0 39 15 38.5 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 6.85E-25 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 166529467 C T - - - - - - 34 0 0 34 7 20.6 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.590905222 0.590905222 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 166693842 C A - - - - - - 29 0 0 22 6 27.3 27 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.09E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 166980795 C G RPS6KA2 CCDS5294.1 r.? - - intronic 33 0 0 22 10 45.5 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 5.98E-18 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 167294316 G C ENSG00000249141 ENST00000507747 r.? - - intronic 43 0 0 22 7 31.8 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 167567498 A G GPR31 CCDS5299.1 r.? - - downstream 27 0 0 31 6 19.4 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.556483559 0.556483559 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-08 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 168875107 C A SMOC2 CCDS5307.1 r.? - - intronic 23 0 0 25 7 28 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 0.718503341 0.718503341 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 169147673 C A - - - - - - 20 0 0 26 11 42.3 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.025939866 1.025939866 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 53580 G A - - - - - - 32 0 0 40 8 20 23 8 34.8 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 2.61E-11 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 1706598 G T ENSG00000224268 ENST00000436115 r.? - - intronic 22 0 0 31 10 32.3 5 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 1845190 A G - - - - - - 14 0 0 24 7 29.2 13 7 53.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 1.858436526 1.858436526 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 1.31E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 1853492 A G MAD1L1 CCDS43539.1 r.? - - downstream 32 0 0 26 6 23.1 24 3 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.662617021 0.662617021 1 0.431792873 0.431792873 1 NA NA 1 NA NA 1 5 NA 1 1 3.3E-09 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 2806628 C T GNA12 CCDS5335.1 r.? - - intronic 27 0 0 35 10 28.6 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 1.119207127 1.119207127 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 3096131 C G - - - - - - 24 0 0 21 7 33.3 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-12 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 3213850 A C ENSG00000217455 ENST00000404626 r.? - - intronic 43 0 0 33 10 30.3 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 0.511242762 0.511242762 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 3268540 A G - - - - - - 30 0 0 31 9 29 27 11 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 1.405917595 1.405917595 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 5.92E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 3325408 C A - - - - - - 37 0 0 26 10 38.5 26 5 19.2 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 3446928 T G SDK1 CCDS34590.1 r.? - - intronic 36 0 0 40 5 12.5 19 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.358558994 0.358558994 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000178 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 3450560 G T SDK1 CCDS34590.1 r.? - - intronic 31 0 0 19 7 36.8 23 10 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.055597679 1.055597679 1 1.502639198 1.502639198 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-12 1 1.05E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 3791933 T A SDK1 CCDS34590.1 r.? - - intronic 36 0 0 20 4 20 37 1 2.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0.093267261 0.093267261 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000284 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 4483630 G A - - - - - - 39 0 0 31 6 19.4 35 1 2.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.556483559 0.556483559 1 0.100175947 0.100175947 1 NA NA 1 NA NA 1 3 NA 1 1 1.03E-08 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 4580071 C T - - - - - - 33 0 0 30 13 43.3 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.242048356 1.242048356 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 4703658 G T FOXK1 ENST00000446823 r.? - - intronic 18 0 0 26 7 26.9 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.771618956 0.771618956 1 0.835951002 0.835951002 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 6484741 C A DAGLB CCDS5350.1 r.? - - intronic 32 0 0 23 10 43.5 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.2477853 1.2477853 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.05E-17 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 6989117 C A - - - - - - 23 0 0 26 12 46.2 21 9 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.325234043 1.325234043 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-21 1 5.44E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 7126500 G C - - - - - - 37 0 0 27 5 18.5 31 10 32.3 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.530667311 0.530667311 1 1.115752784 1.115752784 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000023 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 8064264 A G GLCCI1 CCDS34601.1 r.? - - intronic 38 0 0 29 16 55.2 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.583396518 1.583396518 1 1.025939866 1.025939866 1 NA NA 1 NA NA 1 5 NA 1 1 9.74E-30 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 8903119 A G - - - - - - 33 0 0 35 12 34.3 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.98388588 0.98388588 1 0.970670379 0.970670379 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 9502054 C A - - - - - - 27 0 0 21 10 47.6 25 2 8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.36539265 1.36539265 1 0.276347439 0.276347439 1 NA NA 1 NA NA 1 5 NA 1 1 3.28E-18 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 9731159 C A - - - - - - 31 0 0 23 8 34.8 14 3 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 0.0000437 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 9740924 A G - - - - - - 27 0 0 25 14 56 27 14 51.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.606344294 1.606344294 1 1.792804009 1.792804009 1 NA NA 1 NA NA 1 5 NA 1 1 2.58E-26 1 1.15E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 9785342 A C - - - - - - 54 0 0 25 8 32 22 4 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 10137082 G T - - - - - - 33 0 0 20 11 55 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.577659574 1.577659574 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 7.87E-21 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 10566998 C T AC009945.1 ENST00000510654 r.? - - intronic 28 0 0 24 9 37.5 26 8 30.8 0 0 NA 0 0 NA 1 1 100 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.063937639 1.063937639 1 NA NA 1 3.454342984 3.454342984 1 5 NA 1 1 2.39E-15 1 5.63E-13 0.005 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 11372167 A T - - - - - - 49 0 0 32 12 37.5 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 11540815 T C THSD7A CCDS47543.1 r.? - - intronic 34 0 0 28 8 28.6 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 11880595 G A - - - - - - 36 0 0 33 10 30.3 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 13844328 G T - - - - - - 34 0 0 25 14 56 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.606344294 1.606344294 1 0.749592428 0.749592428 1 NA NA 1 NA NA 1 5 NA 1 1 2.58E-26 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 14149469 C T - - - - - - 27 0 0 26 7 26.9 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.771618956 0.771618956 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 14313167 G A DGKB CCDS47547.1 r.? - - intronic 34 0 0 26 9 34.6 21 10 47.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.644267261 1.644267261 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 3.28E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 15425225 G C TMEM195 CCDS34604.1 r.? - - intronic 33 0 0 25 10 40 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.818679287 0.818679287 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 15915480 C A - - - - - - 35 0 0 35 8 22.9 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.656880077 0.656880077 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 16906984 A T AGR3 CCDS5365.1 r.? - - intronic 33 0 0 30 13 43.3 32 13 40.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.242048356 1.242048356 1 1.402463252 1.402463252 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 3.88E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 16985433 G T - - - - - - 34 0 0 47 17 36.2 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.038386847 1.038386847 1 1.336830735 1.336830735 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-27 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 17106881 G C - - - - - - 21 0 0 21 12 57.1 33 10 30.3 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.637897485 1.637897485 1 1.046665924 1.046665924 1 NA NA 1 NA NA 1 5 NA 1 1 6.88E-23 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 17197867 C T - - - - - - 42 0 0 43 14 32.6 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.935121857 0.935121857 1 0.459427617 0.459427617 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 17675612 T A - - - - - - 35 0 0 39 11 28.2 18 5 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.808909091 0.808909091 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 18028219 C T - - - - - - 28 0 0 30 6 20 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 8.37E-09 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 18264873 A T HDAC9 ENST00000433709 r.? - - intronic 49 0 0 34 10 29.4 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.843330754 0.843330754 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 19266282 C T - - - - - - 30 0 0 35 12 34.3 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.98388588 0.98388588 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 19425540 G C - - - - - - 20 0 0 12 4 33.3 14 2 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.493971047 0.493971047 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000003 1 0.002185852 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 19766932 G C TMEM196 CCDS34607.2 r.? - - intronic 38 0 0 22 10 45.5 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 0.832496659 0.832496659 1 NA NA 1 NA NA 1 5 NA 1 1 5.98E-18 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 20193489 C G MACC1 CCDS5369.1 r.? - - intronic 34 0 0 23 10 43.5 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.2477853 1.2477853 1 0.818679287 0.818679287 1 NA NA 1 NA NA 1 5 NA 1 1 1.05E-17 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 20894392 C A - - - - - - 37 0 0 33 7 21.2 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.608116054 0.608116054 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 21004324 T G - - - - - - 34 0 0 23 7 30.4 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.872015474 0.872015474 1 0.732320713 0.732320713 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-11 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 21073578 G T - - - - - - 39 0 0 33 17 51.5 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.477263056 1.477263056 1 1.115752784 1.115752784 1 NA NA 1 NA NA 1 5 NA 1 1 8.25E-31 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 21117502 G C - - - - - - 36 0 0 24 7 29.2 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 0.887766147 0.887766147 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 22014683 G T - - - - - - 29 0 0 36 18 50 45 15 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-32 1 9.14E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 22263917 G T RAPGEF5 ENST00000344041 r.? - - intronic 31 0 0 30 8 26.7 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 1.025939866 1.025939866 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 22357850 T C RAPGEF5 ENST00000344041 r.? - - intronic 29 0 0 40 17 42.5 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.21910058 1.21910058 1 0.835951002 0.835951002 1 NA NA 1 NA NA 1 5 NA 1 1 6.07E-29 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 22719392 A T - - - - - - 43 0 0 30 9 30 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 1.119207127 1.119207127 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 22798449 A C - - - - - - 36 0 0 24 6 25 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.970670379 0.970670379 1 NA NA 1 NA NA 1 5 NA 1 1 1.95E-09 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 22870915 G A - - - - - - 33 0 0 30 7 23.3 21 8 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.668353965 0.668353965 1 1.316104677 1.316104677 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 7.5E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 23248284 A G AC006039.1 ENST00000504702 r.? - - intronic 35 0 0 25 13 52 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.491605416 1.491605416 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 6E-24 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 23521177 A T - - - - - - 31 0 0 22 8 36.4 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-13 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 23695179 C T - - - - - - 32 0 0 26 11 42.3 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 23854279 A C STK31 CCDS43556.1 r.? - - intronic 32 0 0 24 5 20.8 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.596642166 0.596642166 1 0.749592428 0.749592428 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 24024388 A C - - - - - - 34 0 0 31 13 41.9 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 0.92576392 0.92576392 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 24032286 C G - - - - - - 45 0 0 27 8 29.6 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 24347641 T G - - - - - - 40 0 0 28 5 17.9 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.51345648 0.51345648 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000279 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 24380180 G A - - - - - - 49 0 0 35 12 34.3 29 11 37.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.98388588 0.98388588 1 1.309195991 1.309195991 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 24560316 G T - - - - - - 27 0 0 28 7 25 29 12 41.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.430097996 1.430097996 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 1.17E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 25173234 C T C7orf31 CCDS5394.1 r.? - - downstream 44 0 0 25 9 36 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 25410635 C T - - - - - - 37 0 0 34 5 14.7 30 1 3.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.421665377 0.421665377 1 0.113993318 0.113993318 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000771 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 25588294 C G - - - - - - 30 0 0 35 6 17.1 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.490508704 0.490508704 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 25870962 A G - - - - - - 37 0 0 30 9 30 25 13 52 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 1.796258352 1.796258352 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 6E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 26150559 C T - - - - - - 53 0 0 42 11 26.2 38 14 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.751539652 0.751539652 1 1.271198218 1.271198218 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 26221058 G C NFE2L3 CCDS5396.1 r.? - - intronic 23 0 0 39 17 43.6 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.250653772 1.250653772 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 3.51E-29 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 26225696 G T NFE2L3 CCDS5396.1 r.2637g>u c.? p.? 3'UTR variant 42 0 0 31 12 38.7 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.110098646 1.110098646 1 0.915400891 0.915400891 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 26459650 G T - - - - - - 27 0 0 31 10 32.3 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 26555360 A T - - - - - - 27 0 0 28 9 32.1 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.920779497 0.920779497 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 26693490 C G - - - - - - 38 0 0 32 4 12.5 22 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.358558994 0.358558994 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000201 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 26858806 G C SKAP2 CCDS5400.1 r.? - - intronic 30 0 0 23 7 30.4 25 11 44 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.872015474 0.872015474 1 1.519910913 1.519910913 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-11 1 2.04E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 27021900 C A SKAP2 ENST00000432747 r.? - - intronic 34 0 0 36 15 41.7 25 11 44 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 1.519910913 1.519910913 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-25 1 2.04E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 28294175 T A - - - - - - 37 0 0 17 9 52.9 33 17 51.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.517421663 1.517421663 1 1.778986637 1.778986637 1 NA NA 1 NA NA 1 5 NA 1 1 4.58E-17 1 8.25E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 29404007 A T CHN2 CCDS5420.1 r.? - - intronic 42 0 0 27 11 40.7 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 29769525 C T - - - - - - 26 0 0 31 10 32.3 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 30755289 G T AC006978.1 ENST00000507825 r.? - - intronic 31 0 0 30 11 36.7 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 1.219383073 1.219383073 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 30759530 A G AC006978.1 ENST00000507825 r.? - - intronic 27 0 0 26 8 30.8 15 2 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 0.459427617 0.459427617 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 0.002513772 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 30892450 C G FAM188B CCDS43565.1 r.? - - intronic 30 0 0 25 6 24 19 8 42.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.688433269 0.688433269 1 1.454278396 1.454278396 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 2.81E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 30990086 A G AC006978.1 ENST00000507825 r.? - - intronic 31 0 0 31 13 41.9 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 0.576875278 0.576875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 31293063 C A - - - - - - 30 0 0 23 8 34.8 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 0.476699332 0.476699332 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 31883305 A C PDE1C CCDS5437.1 r.? - - intronic 43 0 0 30 12 40 26 2 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.26598441 0.26598441 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 32682334 C A AVL9 ENST00000404479 r.? - - intronic 40 0 0 39 20 51.3 23 9 39.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.471526112 1.471526112 1 1.350648107 1.350648107 1 NA NA 1 NA NA 1 5 NA 1 1 6E-36 1 1.5E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 33051256 C A FKBP9 CCDS5439.1 r.? - - downstream 45 0 0 25 6 24 23 8 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.688433269 0.688433269 1 1.202111359 1.202111359 1 NA NA 1 NA NA 1 5 NA 1 1 2.55E-09 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 33576835 A G BBS9 CCDS43566.1 r.? - - intronic 37 0 0 35 11 31.4 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.900700193 0.900700193 1 0.949944321 0.949944321 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 33577455 G A BBS9 CCDS43566.1 r.? - - intronic 29 0 0 33 18 54.5 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.563317215 1.563317215 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 3.68E-33 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 33802838 G T - - - - - - 40 0 0 26 10 38.5 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 33834722 G T - - - - - - 22 0 0 30 9 30 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 0.576875278 0.576875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 33841178 C T - - - - - - 36 0 0 29 10 34.5 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 33973822 G A BMPER CCDS5442.1 r.? - - intronic 42 0 0 41 10 24.4 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.699907157 0.699907157 1 0.835951002 0.835951002 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 34054512 G A BMPER CCDS5442.1 r.? - - intronic 35 0 0 34 9 26.5 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.760145068 0.760145068 1 0.970670379 0.970670379 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 34468904 C A - - - - - - 40 0 0 41 15 36.6 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.049860735 1.049860735 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.71E-24 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 34475395 C T - - - - - - 27 0 0 24 9 37.5 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.278106904 1.278106904 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 35382073 C T - - - - - - 35 0 0 27 11 40.7 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 35385928 C T - - - - - - 44 0 0 27 13 48.1 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.37973501 1.37973501 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 2.29E-23 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 35595114 G A - - - - - - 35 0 0 34 11 32.4 18 5 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 35712080 A T HERPUD2 CCDS5446.1 r.? - - intronic 39 0 0 17 7 41.2 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.181810445 1.181810445 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 5 NA 1 1 1.45E-12 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 37854132 A G EPDR1 ENST00000476620 r.? - - intronic 33 0 0 32 8 25 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 38053239 C G SFRP4 ENST00000447200 r.? - - intronic 29 0 0 28 12 42.9 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 38053455 A G SFRP4 ENST00000447200 r.? - - intronic 21 0 0 31 11 35.5 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 0.780681514 0.780681514 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 38218942 G C STARD3NL CCDS5455.1 r.? - - intronic 36 0 0 28 12 42.9 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 0.538877506 0.538877506 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 38298353 G T - - - - - - 30 0 0 24 9 37.5 19 8 42.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.454278396 1.454278396 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 2.81E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 38399712 G A AC007245.3 ENST00000515771 r.? - - intronic 28 0 0 25 9 36 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 38450756 G A AMPH CCDS5456.1 r.? - - intronic 28 0 0 33 12 36.4 20 5 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 38521227 A T AMPH CCDS5456.1 r.? - - intronic 42 0 0 34 6 17.6 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.504851064 0.504851064 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-08 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 38974111 C T VPS41 ENST00000418457 r.? - - upstream 34 0 0 33 10 30.3 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 39109685 A T POU6F2 CCDS34620.2 r.? - - intronic 25 0 0 23 6 26.1 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.74867118 0.74867118 1 0.459427617 0.459427617 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-09 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 39268014 T C POU6F2 CCDS34620.2 r.? - - intronic 30 0 0 29 11 37.9 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 39341010 G T POU6F2 CCDS34620.2 r.? - - intronic 37 0 0 40 13 32.5 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.932253385 0.932253385 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 39341011 A T POU6F2 CCDS34620.2 r.? - - intronic 39 0 0 46 14 30.4 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.872015474 0.872015474 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-21 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 41235383 C G - - - - - - 29 0 0 33 9 27.3 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 41316976 G A - - - - - - 35 0 0 31 14 45.2 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.296549323 1.296549323 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 1.49E-24 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 43007931 G A - - - - - - 31 0 0 35 17 48.6 19 6 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.394077369 1.394077369 1 1.091572383 1.091572383 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-30 1 4.01E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 43336203 T G HECW1 CCDS5469.2 r.? - - intronic 34 0 0 31 11 35.5 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 43466546 A T HECW1 CCDS5469.2 r.? - - intronic 48 0 0 34 14 41.2 22 1 4.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.181810445 1.181810445 1 0.155445434 0.155445434 1 NA NA 1 NA NA 1 5 NA 1 1 7.74E-24 1 0.104413009 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 43805853 C G BLVRA CCDS5472.1 r.? - - intronic 26 0 0 16 6 37.5 22 3 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.469790646 0.469790646 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-10 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 44100962 G C DBNL CCDS47579.1 r.1865g>c c.? p.? 3'UTR variant 28 0 0 38 18 47.4 34 13 38.2 0 0 NA 1 1 100 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.359655706 1.359655706 1 1.31955902 1.31955902 1 2.868471954 2.868471954 1 NA NA 1 5 NA 1 1 1.16E-31 0.005 1.03E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 44373290 G A - - - - - - 40 0 0 34 14 41.2 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.181810445 1.181810445 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 7.74E-24 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 44833423 T C PPIA CCDS5494.1 r.? - - upstream 33 0 0 28 13 46.4 22 7 31.8 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.330970986 1.330970986 1 1.098481069 1.098481069 1 NA NA 1 NA NA 1 5 NA 1 1 4.26E-23 1 1.25E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 45003488 C A MYO1G CCDS34629.1 r.? - - intronic 28 0 0 24 13 54.2 15 7 46.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.554711799 1.554711799 1 1.613178174 1.613178174 1 NA NA 1 NA NA 1 5 NA 1 1 2.9E-24 1 4.85E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 45301252 A T - - - - - - 19 0 0 29 10 34.5 22 3 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 0.469790646 0.469790646 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 45428127 T G - - - - - - 35 0 0 26 6 23.1 17 3 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.662617021 0.662617021 1 0.607964365 0.607964365 1 NA NA 1 NA NA 1 5 NA 1 1 3.3E-09 1 0.0000807 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 45601716 T C - - - - - - 34 0 0 26 8 30.8 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 45784664 G A - - - - - - 45 0 0 52 15 28.8 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.826119923 0.826119923 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-22 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 45939427 T G - - - - - - 41 0 0 25 11 44 19 7 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.26212766 1.26212766 1 1.271198218 1.271198218 1 NA NA 1 NA NA 1 5 NA 1 1 2.04E-19 1 3.73E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 46073581 G T - - - - - - 41 0 0 28 10 35.7 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 46542064 G A - - - - - - 33 0 0 29 11 37.9 31 14 45.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 1.561363029 1.561363029 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 1.49E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 47949903 G C PKD1L1 CCDS34633.1 r.? - - intronic 35 0 0 31 12 38.7 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.110098646 1.110098646 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 48717486 T G - - - - - - 32 0 0 29 8 27.6 28 6 21.4 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 0.739229399 0.739229399 1 NA NA 1 0 0 1 5 NA 1 1 1.53E-12 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 48718317 C T - - - - - - 37 0 0 21 8 38.1 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.092887814 1.092887814 1 1.336830735 1.336830735 1 NA NA 1 NA NA 1 5 NA 1 1 7.5E-14 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 49264765 C A - - - - - - 35 0 0 42 16 38.1 21 9 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.092887814 1.092887814 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 2.25E-26 1 5.44E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 49306924 G A - - - - - - 32 0 0 25 8 32 21 1 4.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 0.165808463 0.165808463 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 0.099912572 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 49528966 A G - - - - - - 43 0 0 23 9 39.1 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.121572534 1.121572534 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 1.5E-15 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 49795463 T A - - - - - - 31 0 0 27 14 51.9 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.488736944 1.488736944 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-25 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 49883125 T C VWC2 CCDS5508.1 r.? - - intronic 42 0 0 33 14 42.4 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.216232108 1.216232108 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 4.57E-24 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 50027053 G T ZPBP CCDS5509.1 r.? - - intronic 28 0 0 23 6 26.1 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.74867118 0.74867118 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-09 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 50056323 G C ZPBP CCDS5509.1 r.? - - intronic 31 0 0 24 7 29.2 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 1.057028953 1.057028953 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 50163237 T C C7orf72 CCDS47585.1 r.? - - intronic 37 0 0 25 7 28 21 8 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 1.316104677 1.316104677 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 7.5E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 50466209 T A IKZF1 ENST00000331340 r.? - - intronic 40 0 0 38 14 36.8 19 6 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.055597679 1.055597679 1 1.091572383 1.091572383 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 4.01E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 50605141 C T DDC CCDS5511.1 r.? - - intronic 38 0 0 32 7 21.9 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.628195358 0.628195358 1 1.212474388 1.212474388 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 50717450 G T GRB10 CCDS43583.1 r.? - - intronic 28 0 0 23 5 21.7 24 9 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.622458414 0.622458414 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 9.75E-08 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 51579572 G A - - - - - - 29 0 0 30 8 26.7 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 52022229 T A - - - - - - 23 0 0 30 10 33.3 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 52392703 G T - - - - - - 37 1 2.7 31 10 32.3 15 4 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.926516441 0.926516441 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 0.169281299 1 3.94E-16 1 0.000000816 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 52414893 G T - - - - - - 39 0 0 20 9 45 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.290812379 1.290812379 1 1.008668151 1.008668151 1 NA NA 1 NA NA 1 5 NA 1 1 3.12E-16 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 52633894 T C - - - - - - 46 0 0 31 7 22.6 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.648274662 0.648274662 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 53050324 A T - - - - - - 30 0 0 34 12 35.3 28 12 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.0125706 1.0125706 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 6.9E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 53113611 C T - - - - - - 31 0 0 26 10 38.5 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 54245411 C T - - - - - - 32 0 0 31 7 22.6 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.648274662 0.648274662 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 54508277 T A - - - - - - 36 0 0 33 8 24.2 36 16 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.694170213 0.694170213 1 1.533728285 1.533728285 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 1.01E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 54697286 T C - - - - - - 38 0 0 24 11 45.8 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.313760155 1.313760155 1 0.970670379 0.970670379 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-19 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 54703551 A T - - - - - - 27 0 0 24 10 41.7 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.8E-17 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 54956699 G A - - - - - - 32 0 0 30 13 43.3 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.242048356 1.242048356 1 0.670142539 0.670142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-22 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 56903038 T C - - - - - - 44 0 0 36 7 19.4 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.556483559 0.556483559 1 0.538877506 0.538877506 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 57169863 C T - - - - - - 29 0 0 40 6 15 26 1 3.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.430270793 0.430270793 1 0.131265033 0.131265033 1 NA NA 1 NA NA 1 3 NA 1 1 5.18E-08 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 57233934 G A - - - - - - 29 0 0 25 11 44 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.26212766 1.26212766 1 0.749592428 0.749592428 1 NA NA 1 NA NA 1 5 NA 1 1 2.04E-19 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 57867001 T C - - - - - - 39 0 0 37 6 16.2 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.626692456 0.626692456 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-08 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 62181630 A C - - - - - - 23 0 0 32 12 37.5 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 62487329 C A - - - - - - 32 0 0 40 10 25 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.563474388 1.563474388 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 62513850 C G - - - - - - 31 0 0 29 10 34.5 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.334622824 1.334622824 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 62942017 A C - - - - - - 33 0 0 35 8 22.9 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 1.167037862 1.167037862 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 63292772 C G - - - - - - 27 0 0 31 11 35.5 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.373307544 1.373307544 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 63341030 A C - - - - - - 20 0 0 42 7 16.7 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 63459411 G A - - - - - - 20 0 0 31 12 38.7 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.497098646 1.497098646 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 63592734 T C - - - - - - 33 0 0 38 14 36.8 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.423597679 1.423597679 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 63651431 G A - - - - - - 40 0 0 44 10 22.7 39 3 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.34298441 0.34298441 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 0.000998458 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 63870659 A G - - - - - - 28 0 0 36 10 27.8 41 13 31.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 1.412026726 1.412026726 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 1.89E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 63941510 G C - - - - - - 22 0 0 37 12 32.4 45 13 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 1.287305122 1.287305122 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 7.68E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 64325298 A T - - - - - - 37 0 0 40 8 20 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 64326745 T G - - - - - - 22 0 0 37 8 21.6 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 64517254 T C - - - - - - 38 0 0 43 12 27.9 41 4 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.436525612 0.436525612 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 64523119 C G - - - - - - 36 0 0 37 10 27 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 64543868 C A AC073210.1 ENST00000501153 r.? - - upstream 36 0 0 31 7 22.6 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 64965643 C A - - - - - - 21 0 0 30 5 16.7 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.855233853 0.855233853 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 65092268 G T - - - - - - 36 0 0 39 10 25.6 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 65634418 A T AC008267.2 ENST00000418858 r.? - - intronic 29 0 0 34 7 20.6 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 65814841 A T TPST1 CCDS5533.1 r.? - - intronic 28 1 3.6 34 9 26.5 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 0.130947004 1 9.15E-14 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 66370525 T G - - - - - - 25 0 0 35 10 28.6 33 10 30.3 10 0 0 9 2 22.2 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.349665924 1.349665924 1 0.858800774 0.858800774 1 NA NA 1 5 NA 1 1 1.6E-15 0.000879235 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 66553227 T G TYW1 CCDS5538.1 r.? - - intronic 32 0 0 38 11 28.9 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 66724555 C A - - - - - - 36 0 0 32 8 25 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 67080426 G C - - - - - - 49 0 0 30 6 20 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 8.37E-09 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 67409782 G A - - - - - - 32 0 0 44 12 27.3 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 67458364 C T - - - - - - 41 0 0 36 7 19.4 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.581291759 1.581291759 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 67614799 A C - - - - - - 41 0 0 32 7 21.9 44 14 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.847195358 0.847195358 1 1.416481069 1.416481069 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 68121016 T A - - - - - - 33 0 0 30 5 16.7 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 68222425 T A - - - - - - 31 0 0 46 13 28.3 36 12 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.094777563 1.094777563 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.07E-19 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 68606607 C G - - - - - - 17 0 0 40 12 30 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 68731663 G A - - - - - - 34 0 0 27 6 22.2 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.712694878 0.712694878 1 NA NA 1 NA NA 1 5 NA 1 1 4.23E-09 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 68751237 C A - - - - - - 31 0 0 45 17 37.8 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.462282398 1.462282398 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 7.37E-28 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 69139234 G T AUTS2 CCDS5539.1 r.? - - intronic 41 0 0 40 11 27.5 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 69503347 A C AUTS2 CCDS5539.1 r.? - - intronic 31 0 0 48 14 29.2 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.12959381 1.12959381 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-21 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 69858419 T C AUTS2 CCDS5539.1 r.? - - intronic 25 0 0 42 10 23.8 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 70313587 C T - - - - - - 31 0 0 38 10 26.3 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 70352117 T G - - - - - - 27 0 0 41 12 29.3 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 70397696 C T - - - - - - 24 0 0 36 7 19.4 44 13 29.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.31403118 1.31403118 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 5.49E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 70443905 C T - - - - - - 25 0 0 44 11 25 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.621380846 1.621380846 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 70612558 A T WBSCR17 CCDS5540.1 r.? - - intronic 28 0 0 42 7 16.7 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 70983249 C T WBSCR17 CCDS5540.1 r.? - - intronic 38 0 0 39 9 23.1 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 71077369 G T WBSCR17 CCDS5540.1 r.? - - intronic 31 1 3.2 40 11 27.5 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 0.143917729 1 9.88E-17 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 71174772 C A WBSCR17 CCDS5540.1 r.? - - intronic 18 0 0 38 10 26.3 35 7 20 0 0 NA 1 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 0.890868597 0.890868597 1 0 0 1 NA NA 1 5 NA 1 1 4.06E-15 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 71282463 G C CALN1 CCDS47603.1 r.? - - intronic 42 0 0 42 8 19 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.735009671 0.735009671 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 71335532 A G CALN1 CCDS47603.1 r.? - 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- intronic 32 0 0 48 11 22.9 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.039765972 1.039765972 1 1.401268062 1.401268062 1 NA NA 1 NA NA 0 5 NA 1 1 9.31E-16 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 88790715 C G ZNF804B CCDS5613.1 r.? - - intronic 46 0 0 36 8 22.2 39 14 35.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.007982733 1.007982733 1 1.884102001 1.050310726 1.793852004 NA NA 1 NA NA 0 5 NA 1 1 1.04E-11 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 88875009 T G ZNF804B CCDS5613.1 r.? - - intronic 31 0 0 51 6 11.8 45 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0.535774606 0.535774606 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.000000232 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 88888548 G T ZNF804B CCDS5613.1 r.? - - intronic 38 0 0 60 31 51.7 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 2.347419247 1.4039666 1.671990806 1.574458496 1.574458496 1 NA NA 1 NA NA 0 5 NA 1 1 4.63E-55 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 88888553 G T ZNF804B CCDS5613.1 r.? - - intronic 37 0 0 58 30 51.7 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 2.347419247 1.4039666 1.671990806 1.343537917 1.343537917 1 NA NA 1 NA NA 0 5 NA 1 1 2.36E-53 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 88922560 T A ZNF804B CCDS5613.1 r.? - - intronic 26 0 0 43 17 39.5 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.79348279 1.072663069 1.671990806 1.338289722 1.338289722 1 NA NA 1 NA NA 0 5 NA 1 1 2.84E-28 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 89038139 T C - - - - - - 31 0 0 49 10 20.4 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0.926254403 0.926254403 1 0.897441343 0.897441343 1 NA NA 1 NA NA 0 5 NA 1 1 6.72E-14 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 89535042 T C - - - - - - 40 0 0 36 8 22.2 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.007982733 1.007982733 1 1.312048747 1.312048747 1 NA NA 1 NA NA 0 5 NA 1 1 1.04E-11 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 89665237 A G - - - - - - 33 0 0 46 13 28.3 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.284950961 1.284950961 1 1.075879973 1.075879973 1 NA NA 1 NA NA 0 5 NA 1 1 1.07E-19 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 90229995 A C CDK14 ENST00000380050 r.? - - intronic 30 0 0 49 13 26.5 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.203222631 1.203222631 1 1.805379076 1.006425877 1.793852004 NA NA 1 NA NA 0 5 NA 1 1 2.71E-19 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 90497267 C G CDK14 CCDS5619.1 r.? - - intronic 22 0 0 51 15 29.4 38 21 55.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.334896051 1.334896051 1 2.902251828 1.61788811 1.793852004 NA NA 1 NA NA 0 5 NA 1 1 8.22E-23 1 1.27E-38 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 90763531 G C CDK14 CCDS5619.1 r.? - - intronic 39 0 0 49 24 49 43 19 44.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 2.224826752 1.330645326 1.671990806 2.319702185 1.293140226 1.793852004 NA NA 1 NA NA 0 5 NA 1 1 3.34E-42 1 1.36E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 91581475 G A AKAP9 CCDS5622.1 r.? - - intronic 40 0 0 44 14 31.8 39 13 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.443867158 1.443867158 1 1.747648931 0.974243654 1.793852004 NA NA 1 NA NA 0 5 NA 1 1 6.1E-22 1 8.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 91598317 C T AKAP9 CCDS5622.1 r.? - - intronic 42 0 0 45 7 15.6 49 10 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0.708312191 0.708312191 1 1.070631778 1.070631778 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000003 1 6.72E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 91820277 T A - - - - - - 39 0 0 53 12 22.6 65 11 16.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.026144584 1.026144584 1 0.886944953 0.886944953 1 NA NA 1 NA NA 0 5 NA 1 1 5.39E-17 1 3.41E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 92215269 C A FAM133B CCDS47641.1 r.? - - intronic 35 0 0 44 19 43.2 52 13 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.961479912 1.173140369 1.671990806 1.312048747 1.312048747 1 NA NA 1 NA NA 0 5 NA 1 1 2.39E-32 1 6.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 92501092 T G - - - - - - 36 0 0 41 10 24.4 45 5 11.1 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.107872913 1.107872913 1 0.582549644 0.582549644 1 NA NA 1 NA NA 0 5 NA 1 1 9.51E-15 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 93014748 T A - - - - - - 43 0 0 46 6 13 47 13 27.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0.590260159 0.590260159 1 1.453750012 1.453750012 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 93073072 G T CALCR CCDS5631.1 r.825-3c>a c.649-3C>A p.? splice region 37 0 0 39 11 28.2 48 5 10.4 189 0 0 116 21 18.1 85 3 3.5 TRUE TRUE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.280410498 1.280410498 1 0.545812279 0.545812279 1 0.82182376 0.82182376 1 0.183686825 0.183686825 1 5 5 1 1 7.2E-17 1.95E-26 0.00000447 0.009101881 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 7 93102475 G T CALCR CCDS5631.1 r.? - - intronic 36 0 0 52 13 25 57 9 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.13511569 1.13511569 1 0.829214808 0.829214808 1 NA NA 1 NA NA 0 5 NA 1 1 6.47E-19 1 1.42E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 93144824 T C CALCR CCDS5631.1 r.? - - intronic 46 0 0 46 13 28.3 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.284950961 1.284950961 1 1.112617337 1.112617337 1 NA NA 1 NA NA 0 5 NA 1 1 1.07E-19 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 93147422 A T CALCR CCDS5631.1 r.? - - intronic 47 0 0 49 22 44.9 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 2.038667779 1.219305615 1.671990806 1.443253622 1.443253622 1 NA NA 1 NA NA 0 5 NA 1 1 1.04E-37 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 93204255 G T CALCR CCDS5631.1 r.? - - upstream 35 1 2.9 34 10 29.4 11 4 36.4 0 0 NA 5 1 20 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.334896051 1.334896051 1 1.910342976 1.910342976 1 0.908092552 0.908092552 1 NA NA 0 5 NA 0.16091139 1 1.15E-15 0.024751247 0.000000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 93350034 T C GNGT1 ENST00000455502 r.? - - intronic 50 0 0 40 14 35 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.589161966 0.950460947 1.671990806 0.808222028 0.808222028 1 NA NA 1 NA NA 0 5 NA 1 1 1.25E-22 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 93458623 T C GNGT1 ENST00000455502 r.? - - intronic 43 0 0 51 6 11.8 49 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0.535774606 0.535774606 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.000000232 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 93484352 G T GNGT1 ENST00000455502 r.? - - intronic 42 0 0 52 22 42.3 48 19 39.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.920615747 1.148699945 1.671990806 2.078285215 1.158560021 1.793852004 NA NA 1 NA NA 0 5 NA 1 1 5.59E-37 1 1.92E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 93571270 T C - - - - - - 38 0 0 41 13 31.7 51 12 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.439326695 1.439326695 1 1.233325822 1.233325822 1 NA NA 1 NA NA 0 5 NA 1 1 1.89E-20 1 3.24E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 93914586 T A - - - - - - 40 0 0 44 18 40.9 44 19 43.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.857049269 1.110681507 1.671990806 2.267220235 1.263883659 1.793852004 NA NA 1 NA NA 0 5 NA 1 1 3.47E-30 1 2.39E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 93925247 A T - - - - - - 25 0 0 45 20 44.4 60 23 38.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 2.015965465 1.205727602 1.671990806 2.01005868 1.120526485 1.793852004 NA NA 1 NA NA 0 5 NA 1 1 2.68E-34 1 2.33E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 94008972 A T - - - - - - 43 0 0 53 21 39.6 47 11 23.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.798023253 1.075378672 1.671990806 1.228077627 1.228077627 1 NA NA 1 NA NA 0 5 NA 1 1 1.3E-34 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 94507012 C A - - - - - - 42 0 0 41 12 29.3 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.330355589 1.330355589 1 1.254318602 1.254318602 1 NA NA 1 NA NA 0 5 NA 1 1 1.69E-18 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 95254523 A C - - - - - - 34 0 0 47 18 38.3 50 26 52 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.738997237 1.040075837 1.671990806 2.729061394 1.521341442 1.793852004 NA NA 1 NA NA 0 5 NA 1 1 1.52E-29 1 1.61E-46 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 95255858 T A - - - - - - 41 0 0 44 11 25 51 5 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.13511569 1.13511569 1 0.514323109 0.514323109 1 NA NA 1 NA NA 0 5 NA 1 1 3.22E-16 1 0.00000606 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 95960743 G A - - - - - - 35 0 0 53 23 43.4 35 14 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 1.970560838 1.178571575 1.671990806 2.099277995 1.170262648 1.793852004 NA NA 1 NA NA 0 5 NA 1 1 6.43E-39 1 1.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 96071282 G T - - - - - - 36 0 0 36 16 44.4 46 16 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 2.015965465 1.205727602 1.671990806 1.826371856 1.018128503 1.793852004 NA NA 1 NA NA 0 5 NA 1 1 1.01E-27 1 1.31E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 96275501 A G SHFM1 ENST00000444799 r.? - - downstream 32 0 0 38 13 34.2 34 17 50 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 5.88E-21 1 1.64E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 96340443 T C SHFM1 CCDS5646.1 r.? - - upstream 44 0 0 35 6 17.1 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 0.593382686 0.593382686 1 0.913140312 0.913140312 1 NA NA 0 NA NA 1 5 NA 1 1 2.24E-08 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 96769426 A T ACN9 CCDS5648.1 r.? - - intronic 31 0 0 33 20 60.6 36 14 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 2.102864959 1.312975789 1.601602236 1.732739421 0.86636971 2 NA NA 0 NA NA 1 5 NA 1 1 5.14E-38 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 96954241 C A - - - - - - 41 0 0 29 13 44.8 34 15 44.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 1.554593237 0.970648768 1.601602236 1.964365256 0.982182628 2 NA NA 0 NA NA 1 5 NA 1 1 7.69E-23 1 5.18E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 96963693 A T - - - - - - 31 0 0 29 14 48.3 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 1.676045833 1.046480703 1.601602236 1.53674833 1.53674833 1 NA NA 0 NA NA 1 5 NA 1 1 4.41E-25 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 96977381 C G - - - - - - 25 0 0 38 13 34.2 28 14 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 1.186765373 1.186765373 1 2.227171492 1.113585746 2 NA NA 0 NA NA 1 5 NA 1 1 5.88E-21 1 2.29E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 97015018 T A - - - - - - 20 0 0 29 13 44.8 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 1.554593237 0.970648768 1.601602236 1.541202673 1.541202673 1 NA NA 0 NA NA 1 5 NA 1 1 7.69E-23 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 97063363 T A - - - - - - 35 0 0 41 19 46.3 39 16 41 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 1.60664435 1.003148169 1.601602236 1.826280624 0.913140312 2 NA NA 0 NA NA 1 5 NA 1 1 4.2E-33 1 5.16E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 97154086 C A - - - - - - 40 0 0 43 20 46.5 29 11 37.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 1.613584498 1.007481422 1.601602236 1.688195991 0.844097996 2 NA NA 0 NA NA 1 5 NA 1 1 8.21E-35 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 97349967 T A - - - - - - 38 0 0 52 29 55.8 36 12 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 1.936301398 1.208977707 1.601602236 1.483296214 1.483296214 1 NA NA 0 NA NA 1 5 NA 1 1 5.88E-53 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 97446394 A T - - - - - - 35 0 0 38 16 42.1 38 14 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 1.460901234 1.460901234 1 1.639198218 0.819599109 2 NA NA 0 NA NA 1 5 NA 1 1 3.06E-27 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 97636160 G T - - - - - - 21 0 0 30 14 46.7 22 9 40.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 1.620524646 1.011814676 1.601602236 1.821826281 0.91091314 2 NA NA 0 NA NA 1 5 NA 1 1 8.24E-25 1 9.16E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 97651606 G T - - - - - - 26 0 0 32 14 43.8 39 19 48.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 1.519892495 0.948982501 1.601602236 2.169265033 1.084632517 2 NA NA 0 NA NA 1 5 NA 1 1 2.65E-24 1 1.2E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 97654721 G C - - - - - - 24 0 0 36 15 41.7 32 14 43.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 1.447020937 1.447020937 1 1.951002227 0.975501114 2 NA NA 0 NA NA 1 5 NA 1 1 1.54E-25 1 2.65E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 98224150 C A - - - - - - 28 0 0 34 16 47.1 34 13 38.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 1.634404943 1.020481182 1.601602236 1.70155902 0.85077951 2 NA NA 0 NA NA 1 5 NA 1 1 3.09E-28 1 1.03E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 98773220 C A KPNA7 CCDS47651.1 r.? - - intronic 26 0 0 27 7 25.9 23 10 43.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 0.898749215 0.898749215 1 1.937639198 0.968819599 2 NA NA 0 NA NA 1 5 NA 1 1 6.36E-11 1 1.05E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 99185548 T A - - - - - - 30 0 0 24 14 58.3 44 23 52.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 2.023053252 1.263143374 1.601602236 2.329621381 1.16481069 2 NA NA 0 NA NA 1 5 NA 1 1 1.14E-26 1 2.17E-41 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 99574890 C T AZGP1 CCDS5680.1 r.? - - upstream 40 0 0 38 15 39.5 43 20 46.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 1.370679305 1.370679305 1 2.071269488 1.035634744 2 NA NA 0 NA NA 1 5 NA 1 1 4.24E-25 1 8.21E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 99670350 C T ZNF3 CCDS43619.1 r.? - - intronic 27 0 0 35 22 62.9 40 20 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 2.182676665 1.362808203 1.601602236 2.227171492 1.113585746 2 NA NA 0 NA NA 1 5 NA 1 1 3.31E-42 1 1.19E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 100030014 C T MEPCE CCDS5693.1 r.? - - intronic 31 0 0 39 18 46.2 33 15 45.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 1.603174275 1.000981542 1.601602236 2.026726058 1.013363029 2 NA NA 0 NA NA 1 5 NA 1 1 2.15E-31 1 2.91E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 100103907 T G - - - - - - 39 0 0 34 16 47.1 47 21 44.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 1.634404943 1.020481182 1.601602236 1.991091314 0.995545657 2 NA NA 0 NA NA 1 5 NA 1 1 3.09E-28 1 5.29E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 100272266 T G GNB2 CCDS5703.1 r.? - - intronic 26 0 0 35 8 22.9 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.651677808 3.129724922 1 2 1 1 0.348322192 0.870275078 2 2 1 2 0.651677808 0.129724922 1.035114295 1.035114295 1 1.049804766 1.049804766 1 NA NA 0 NA NA 0 5 NA 1 1 8.15E-12 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 100368300 C T - - - - - - 29 0 0 35 16 45.7 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.651677808 3.129724922 1 2 1 1 0.348322192 0.870275078 2 2 1 2 0.651677808 0.129724922 2.065708441 1.250672759 1.651677808 1.92091936 1.02707852 1.870275078 NA NA 0 NA NA 0 5 NA 1 1 5.66E-28 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 100387440 G A - - - - - - 27 0 0 32 10 31.2 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.651677808 3.129724922 1 2 1 1 0.348322192 0.870275078 2 2 1 2 0.651677808 0.129724922 1.410286726 1.410286726 1 0.798521711 0.798521711 1 NA NA 0 NA NA 0 5 NA 1 1 5.7E-16 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 101219483 A G - - - - - - 35 0 0 51 6 11.8 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.651677808 3.129724922 1 2 1 1 0.348322192 0.870275078 2 2 1 2 0.651677808 0.129724922 0.533377672 0.533377672 1 0.893450865 0.893450865 1 NA NA 0 NA NA 0 5 NA 1 1 0.000000232 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 101673004 C T CUX1 CCDS5721.1 r.? - 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- - - - - 25 0 0 40 14 35 56 8 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.572665119 0.967879118 1.624856958 0.750512448 0.750512448 1 NA NA 1 NA NA 0 5 NA 1 1 1.25E-22 1 4.48E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 109936443 G T - - - - - - 35 0 0 34 13 38.2 47 17 36.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.716451644 1.056370923 1.624856958 1.899898644 1.059031818 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 1.03E-21 1 1.81E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 110005877 T C - - - - - - 34 0 0 49 17 34.7 41 18 43.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.559185132 0.959583011 1.624856958 2.304020731 1.284295492 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 4.26E-27 1 6.91E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 110197064 T G - - - - - - 28 0 0 58 8 13.8 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.62007939 0.62007939 1 1.249104633 1.249104633 1 NA NA 1 NA NA 0 5 NA 1 1 5.99E-10 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 110243974 G C - - - - - - 30 0 0 25 7 28 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.258132095 1.258132095 1 1.464286524 1.464286524 1 NA NA 1 NA NA 0 5 NA 1 1 3.47E-11 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 110905240 C A IMMP2L CCDS5753.1 r.? - - intronic 42 0 0 52 10 19.2 46 3 6.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.862719151 0.862719151 1 0.341142022 0.429652169 0.79399581 NA NA 1 NA NA 0 5 NA 1 1 1.28E-13 1 0.001615827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 111017535 C G IMMP2L CCDS5753.1 r.? - - intronic 33 0 0 55 22 40 42 16 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.797331564 1.106147563 1.624856958 1.999617081 1.114616361 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 2.65E-36 1 2.25E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 111288335 T G - - - - - - 35 0 0 45 10 22.2 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.997519018 0.997519018 1 1.243856294 1.243856294 1 NA NA 1 NA NA 0 5 NA 1 1 2.66E-14 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 111351009 G C - - - - - - 37 0 0 51 14 27.5 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.235665451 1.235665451 1 0.939452644 0.939452644 1 NA NA 1 NA NA 0 5 NA 1 1 6.64E-21 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 112498304 C A C7orf60 CCDS43634.1 r.? - - intronic 35 0 0 36 11 30.6 45 14 31.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.374958647 1.374958647 1 1.632233365 0.909831202 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 2.62E-17 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 112761106 A T ENSG00000214194 ENST00000397764 r.? - - upstream 35 0 0 44 23 52.3 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 2.350011021 1.446287939 1.624856958 1.695213431 0.94493723 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 2.17E-41 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 112891386 C A - - - - - - 37 0 0 53 18 34 49 18 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.52773183 0.940225429 1.624856958 1.926140338 1.073659329 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 2.09E-28 1 3.8E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 113128598 C T - - - - - - 36 0 0 55 23 41.8 37 14 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.878211485 1.155924204 1.624856958 1.983872064 1.105839854 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 1.91E-38 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 113292852 G C - - - - - - 33 0 0 43 11 25.6 49 13 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.150292201 1.150292201 1 1.390809781 1.390809781 1 NA NA 1 NA NA 0 5 NA 1 1 2.42E-16 1 2.71E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 113640732 A G PPP1R3A ENST00000449795 r.? - - intronic 41 0 0 39 14 35.9 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.613105079 0.992767438 1.624856958 0.850230885 0.850230885 1 NA NA 1 NA NA 0 5 NA 1 1 8.19E-23 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 113802998 G T FOXP2 ENST00000484307 r.106-1g>u c.? p.? 5'UTR ess splice 26 0 0 57 16 28.1 46 18 39.1 102 2 2 68 29 42.6 318 164 51.6 TRUE TRUE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.262625424 1.262625424 1 2.052100469 1.143871383 1.79399581 1.914158116 1.178047155 1.624856958 2.708142818 1.509559165 1.79399581 5 4 1 0.092873916 7.28E-24 2.12E-48 9.41E-30 4.05E-284 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 7 114233402 C A FOXP2 CCDS43635.1 r.? - - intronic 31 0 0 51 17 33.3 52 17 32.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.496278527 0.920867846 1.624856958 1.716206786 0.956639239 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 9.59E-27 1 1.42E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 114437645 T A - - - - - - 42 0 0 42 20 47.6 50 17 34 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 2.138824562 1.3163156 1.624856958 1.78443519 0.994670768 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 4.41E-35 1 6.43E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 114483958 A T - - - - - - 36 0 0 47 9 19.1 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.858225822 0.858225822 1 0.750512448 0.750512448 1 NA NA 1 NA NA 0 5 NA 1 1 2.24E-12 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 114523026 C A - - - - - - 35 0 0 44 12 27.3 20 6 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.226678793 1.226678793 1 1.574501638 1.574501638 1 NA NA 1 NA NA 0 5 NA 1 1 4.44E-18 1 5.7E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 114630907 G T MDFIC CCDS34737.1 r.? - - intronic 33 0 0 44 14 31.8 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.428878594 1.428878594 1 0.997184371 0.997184371 1 NA NA 1 NA NA 0 5 NA 1 1 6.1E-22 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 114683304 T C - - - - - - 33 0 0 48 15 31.2 35 13 37.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.40191862 1.40191862 1 1.947133693 1.085361338 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 2.86E-23 1 1.63E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 114684207 T C - - - - - - 38 0 0 46 19 41.3 56 23 41.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.85574484 1.142097359 1.624856958 2.157067245 1.202381428 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 6.97E-32 1 3.22E-38 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 114770466 T A - - - - - - 28 0 0 41 17 41.5 46 14 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.864731498 1.147628097 1.624856958 1.595494994 0.889352687 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 1.03E-28 1 1.26E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 115146832 C G - - - - - - 28 0 0 52 10 19.2 55 6 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.862719151 0.862719151 1 0.572068929 0.572068929 1 NA NA 1 NA NA 0 5 NA 1 1 1.28E-13 1 0.000000367 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 115183156 C G - - - - - - 50 0 0 44 12 27.3 34 16 47.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.226678793 1.226678793 1 2.471967572 1.377911564 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 4.44E-18 1 3.09E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 115234433 A G - - - - - - 37 0 0 38 9 23.7 47 14 29.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.064918952 1.064918952 1 1.564004961 0.871799673 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 2.79E-13 1 1.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 115234913 T A - - - - - - 42 0 0 47 14 29.8 48 14 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.339012016 1.339012016 1 1.532514928 1.532514928 1 NA NA 1 NA NA 0 5 NA 1 1 1.79E-21 1 2.51E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 115249913 A G - - - - - - 38 0 0 66 15 22.7 57 10 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.019985663 1.019985663 1 0.918459289 0.918459289 1 NA NA 1 NA NA 0 5 NA 1 1 6.45E-21 1 3.4E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 115309955 G A - - - - - - 38 0 0 51 21 41.2 45 16 35.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.851251511 1.13933199 1.624856958 1.868408611 1.041478804 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 4.73E-35 1 8.61E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 115471125 C A - - - - - - 41 0 0 44 22 50 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 2.246664456 1.382684454 1.624856958 0.671787366 0.671787366 1 NA NA 1 NA NA 0 5 NA 1 1 4.51E-39 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 115591413 C A TFEC CCDS5762.1 r.? - - intronic 29 0 0 41 9 22 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.98853236 0.98853236 1 0.892217595 0.892217595 1 NA NA 1 NA NA 0 5 NA 1 1 5.92E-13 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 115756936 A T TFEC ENST00000484212 r.? - - intronic 46 0 0 46 22 47.8 48 18 37.5 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 2.14781122 1.321846338 1.624856958 1.968127048 1.097063347 1.79399581 NA NA 1 0 NA 0 5 NA 1 1 1.68E-38 1 2.42E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 116978139 T A - - - - - - 31 0 0 48 13 27.1 46 19 41.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.217692135 1.217692135 1 2.167563922 1.208232433 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 2E-19 1 6.97E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 117247557 A C CFTR CCDS5773.1 r.? - - intronic 28 0 0 37 14 37.8 47 16 34 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.698478328 1.045309447 1.624856958 1.78443519 0.994670768 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 3.35E-23 1 1.98E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 117478519 C A CTTNBP2 CCDS5774.1 r.? - - intronic 31 0 0 40 6 15 43 1 2.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.673999337 0.673999337 1 0.120711792 0.120711792 1 NA NA 1 NA NA 0 3 NA 1 1 5.18E-08 1 0.193893409 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 117559616 C G - - - - - - 36 0 0 36 10 27.8 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.249145437 1.249145437 1 0.897465934 0.897465934 1 NA NA 1 NA NA 0 5 NA 1 1 2.21E-15 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 117665497 G T - - - - - - 22 0 0 43 11 25.6 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.150292201 1.150292201 1 1.417051475 1.417051475 1 NA NA 1 NA NA 0 5 NA 1 1 2.42E-16 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 117795945 T G - - - - - - 51 0 0 59 17 28.8 55 20 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.294078726 1.294078726 1 1.910395321 1.064882822 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 1.74E-25 1 4.08E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 117894576 G T - - - - - - 29 0 0 29 11 37.9 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.702971657 1.048074816 1.624856958 1.411803136 1.411803136 1 NA NA 1 NA NA 0 5 NA 1 1 1.56E-18 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 118320321 T G - - - - - - 37 0 0 58 8 13.8 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.62007939 0.62007939 1 0.897465934 0.897465934 1 NA NA 1 NA NA 0 5 NA 1 1 5.99E-10 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 118352774 T A - - - - - - 29 0 0 43 5 11.6 47 6 12.8 99 0 0 60 12 20 829 37 4.5 TRUE TRUE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.521226154 0.521226154 1 0.671787366 0.671787366 1 0.898665782 0.898665782 1 0.236175246 0.236175246 1 5 5 1 1 0.00000257 2.74E-16 0.000000141 4.78E-23 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 7 118352814 A T - - - - - - 35 0 0 53 7 13.2 49 5 10.2 90 0 0 65 19 29.2 754 29 3.8 TRUE TRUE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.593119416 0.593119416 1 0.535330557 0.535330557 1 1.312052042 1.312052042 1 0.199436874 0.199436874 1 5 5 1 1 9.85E-09 1.89E-28 0.00000496 1.02E-16 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 7 118544383 T A - - - - - - 40 0 0 34 9 26.5 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.190732161 1.190732161 1 0.939452644 0.939452644 1 NA NA 1 NA NA 0 5 NA 1 1 9.15E-14 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 118586065 C T - - - - - - 33 0 0 46 14 30.4 40 14 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.365971989 1.365971989 1 1.836918578 1.023925791 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 1.26E-21 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 118658777 C T - - - - - - 39 0 0 51 16 31.4 45 9 20 0 0 NA 0 0 NA 4 0 0 TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.410905278 1.410905278 1 1.049667759 1.049667759 1 NA NA 1 0 NA 0 5 NA 1 1 9.28E-25 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 118851013 G A - - - - - - 49 0 0 41 15 36.6 35 16 45.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.644558382 1.01212502 1.624856958 2.398490829 1.336954532 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 1.71E-24 1 5.66E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 119006945 G A - - - - - - 25 0 0 41 15 36.6 43 16 37.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.644558382 1.01212502 1.624856958 1.952382032 1.08828684 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 1.71E-24 1 3.56E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 119138872 A T - - - - - - 29 0 0 44 15 34.1 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.532225159 0.942990798 1.624856958 0.787250819 0.787250819 1 NA NA 1 NA NA 0 5 NA 1 1 6.12E-24 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 119207204 C A - - - - - - 27 0 0 45 13 28.9 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.298572055 1.298572055 1 1.459038185 1.459038185 1 NA NA 1 NA NA 0 5 NA 1 1 7.68E-20 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 119303273 C A - - - - - - 48 0 0 44 5 11.4 59 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.512239496 0.512239496 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 0.00000288 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 119368264 G A - - - - - - 35 0 0 41 14 34.1 41 13 31.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.532225159 1.532225159 1 1.663723398 0.927384216 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 1.9E-22 1 1.89E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 119491759 G A - - - - - - 35 0 0 45 11 24.4 46 15 32.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.096372254 1.096372254 1 1.710958447 0.953713736 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 4.24E-16 1 1.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 119707459 G A - - - - - - 27 0 0 48 27 56.2 40 14 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 2.525250848 1.554137326 1.624856958 1.836918578 1.023925791 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 1.5E-49 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 119857986 A T - - - - - - 35 0 0 32 10 31.2 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.40191862 1.40191862 1 1.312084699 1.312084699 1 NA NA 1 NA NA 0 5 NA 1 1 5.7E-16 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 119899995 C G - - - - - - 42 0 0 49 9 18.4 48 9 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.82677252 0.82677252 1 0.986687693 0.986687693 1 NA NA 1 NA NA 0 5 NA 1 1 3.35E-12 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 119911475 G A KCND2 CCDS5776.1 r.? - - upstream 35 0 0 41 14 34.1 36 12 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.532225159 1.532225159 1 1.747696819 0.974192252 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 1.9E-22 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 120133808 T G KCND2 CCDS5776.1 r.? - - intronic 38 0 0 42 14 33.3 51 11 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.496278527 1.496278527 1 1.13364118 1.13364118 1 NA NA 1 NA NA 0 5 NA 1 1 2.83E-22 1 1.94E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 120196838 A G KCND2 CCDS5776.1 r.? - - intronic 29 0 0 45 17 37.8 49 20 40.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.698478328 1.045309447 1.624856958 2.141322228 1.193604922 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 7.37E-28 1 2.35E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 120253009 A C KCND2 CCDS5776.1 r.? - - intronic 25 0 0 55 7 12.7 42 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.570652772 0.570652772 1 0 0 1 NA NA 1 NA NA 0 3 NA 1 1 1.28E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 120369956 C A KCND2 CCDS5776.1 r.? - - intronic 39 0 0 51 13 25.5 33 8 24.2 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.145798872 1.145798872 1 1.270097988 1.270097988 1 0 0 1 NA NA 0 5 NA 1 1 4.87E-19 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 120628319 T C C7orf58 CCDS34739.1 r.? - - upstream 31 0 0 50 10 20 31 3 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.898665782 0.898665782 1 0.509088863 0.509088863 1 NA NA 1 NA NA 0 5 NA 1 1 8.36E-14 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 120648635 G A C7orf58 CCDS34739.1 r.? - - intronic 24 0 0 35 13 37.1 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.667025026 1.025951865 1.624856958 2.062597146 1.149722388 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 120876675 G A C7orf58 CCDS34739.1 r.? - - intronic 32 0 0 65 19 29.2 51 18 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.312052042 1.312052042 1 1.852663594 1.032702297 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 1.89E-28 1 9.1E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 120915792 G T C7orf58 CCDS34739.1 r.? - - intronic 37 0 0 44 15 34.1 49 15 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.532225159 0.942990798 1.624856958 1.605991671 0.895203691 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 6.12E-24 1 4.1E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 120917683 A T C7orf58 CCDS34739.1 r.? - - intronic 34 0 0 33 7 21.2 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.952585729 0.952585729 1 0.692780721 0.692780721 1 NA NA 1 NA NA 0 5 NA 1 1 2.98E-10 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 121410001 A G - - - - - - 33 0 0 41 7 17.1 60 8 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.768359244 0.768359244 1 0.69802906 0.69802906 1 NA NA 1 NA NA 0 5 NA 1 1 1.51E-09 1 7.93E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 121514374 A G PTPRZ1 CCDS34740.1 r.? - - intronic 25 0 0 43 10 23.3 54 8 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.046945636 1.046945636 1 0.776754142 0.776754142 1 NA NA 1 NA NA 0 5 NA 1 1 1.61E-14 1 3.31E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 121650123 G T PTPRZ1 CCDS34740.1 r.? - - intronic 26 0 0 42 15 35.7 66 22 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.604118421 0.9872367 1.624856958 1.747696819 0.974192252 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 2.65E-24 1 3.52E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 121809191 T G - - - - - - 46 0 0 39 19 48.7 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 2.18825118 1.346734658 1.624856958 1.432796491 1.432796491 1 NA NA 1 NA NA 0 5 NA 1 1 1.2E-33 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 121876448 G T - - - - - - 37 0 0 31 6 19.4 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.871705809 0.871705809 1 1.018177726 1.018177726 1 NA NA 1 NA NA 0 5 NA 1 1 1.03E-08 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 121904676 C A - - - - - - 37 0 0 52 22 42.3 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.900678129 1.169751048 1.624856958 1.312084699 1.312084699 1 NA NA 1 NA NA 0 5 NA 1 1 5.59E-37 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 122139079 G T CADPS2 CCDS47691.1 r.? - - intronic 38 0 0 40 15 37.5 49 19 38.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.684998342 1.037013341 1.624856958 2.036355452 1.135094876 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 1.09E-24 1 3.12E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 122258593 G A CADPS2 CCDS47691.1 r.? - - intronic 39 0 0 37 8 21.6 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.970559045 0.970559045 1 0.976191016 0.976191016 1 NA NA 1 NA NA 0 5 NA 1 1 1.33E-11 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 122312009 A T CADPS2 CCDS47691.1 r.? - - intronic 37 0 0 32 9 28.1 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.262625424 1.262625424 1 0.797747497 0.797747497 1 NA NA 1 NA NA 0 5 NA 1 1 4.94E-14 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 122329131 A T CADPS2 CCDS47691.1 r.? - - intronic 32 0 0 37 15 40.5 41 17 41.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.819798209 1.119974408 1.624856958 2.1780606 1.214083437 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 2.58E-25 1 1.03E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 122385017 C A CADPS2 CCDS47691.1 r.? - - intronic 41 0 0 42 16 38.1 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.711958315 1.053605554 1.624856958 1.501024895 1.501024895 1 NA NA 1 NA NA 0 5 NA 1 1 2.25E-26 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 122487731 C A CADPS2 CCDS47691.1 r.? - - intronic 27 0 0 43 15 34.9 37 16 43.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.56817179 0.965113749 1.624856958 2.267282359 1.263816976 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 4.05E-24 1 1.78E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 122487732 C A CADPS2 CCDS47691.1 r.? - - intronic 27 0 0 42 14 33.3 37 17 45.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.496278527 1.496278527 1 2.408987507 1.342805537 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 2.83E-22 1 1.1E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 122945844 T C - - - - - - 44 0 0 44 8 18.2 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.817785862 0.817785862 1 1.243856294 1.243856294 1 NA NA 1 NA NA 0 5 NA 1 1 5.9E-11 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 122971709 G A - - - - - - 35 0 0 42 11 26.2 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.177252175 1.177252175 1 0.750512448 0.750512448 1 NA NA 1 NA NA 0 5 NA 1 1 1.81E-16 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 123004907 A C - - - - - - 39 0 0 44 13 29.5 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.325532029 1.325532029 1 0.876472579 0.876472579 1 NA NA 1 NA NA 0 5 NA 1 1 5.49E-20 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 123095973 T A IQUB CCDS5787.1 r.? - - intronic 24 0 0 38 11 28.9 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.298572055 1.298572055 1 1.191372906 1.191372906 1 NA NA 1 NA NA 0 5 NA 1 1 5.19E-17 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 123296305 C A LMOD2 CCDS47693.1 r.? - - intronic 27 0 0 41 18 43.9 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.972571392 1.213996951 1.624856958 1.537763267 1.537763267 1 NA NA 1 NA NA 0 5 NA 1 1 6.91E-31 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 123447401 A T - - - - - - 42 0 0 51 13 25.5 46 3 6.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.145798872 1.145798872 1 0.341142022 0.429652169 0.79399581 NA NA 1 NA NA 1 5 NA 1 1 4.87E-19 1 0.001615827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 123689312 A T - - - - - - 38 0 0 46 16 34.8 48 17 35.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.563678461 0.96234838 1.624856958 1.857911933 1.0356278 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 1.31E-25 1 2.8E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 123826982 G C - - - - - - 26 0 0 48 6 12.5 56 12 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.561666114 0.561666114 1 1.123144502 1.123144502 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000016 1 1.11E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 123900949 G A - - - - - - 30 0 0 50 9 18 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.808799204 0.808799204 1 0.818740852 0.818740852 1 NA NA 1 NA NA 1 5 NA 1 1 4.07E-12 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 124014424 A T - - - - - - 30 0 0 37 9 24.3 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.091878925 1.091878925 1 0.965694338 0.965694338 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 124102215 C A - - - - - - 40 0 0 46 22 47.8 46 16 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 2.14781122 1.321846338 1.624856958 1.8264219 1.018074786 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 1.68E-38 1 1.31E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 124332574 C T - - - - - - 37 0 0 53 10 18.9 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.849239164 0.849239164 1 1.201869584 1.201869584 1 NA NA 1 NA NA 1 5 NA 1 1 1.57E-13 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 124420158 T C ENSG00000229290 ENST00000419423 r.? - - intronic 33 0 0 27 14 51.9 40 14 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 2.332037705 1.435226463 1.624856958 1.836918578 1.023925791 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 1.15E-25 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 124765866 A G - - - - - - 16 0 0 40 9 22.5 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.010999005 1.010999005 1 0.91321095 0.91321095 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 125003082 T A - - - - - - 34 0 0 54 8 14.8 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.665012679 0.665012679 1 1.081157792 1.081157792 1 NA NA 1 NA NA 1 5 NA 1 1 3.31E-10 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 125017927 T A - - - - - - 32 0 0 43 6 14 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.629066048 0.629066048 1 0.82923753 0.82923753 1 NA NA 1 NA NA 1 5 NA 1 1 8.13E-08 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 125354637 C T - - - - - - 28 0 0 43 15 34.9 44 16 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.56817179 0.965113749 1.624856958 1.910395321 1.064882822 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 4.05E-24 1 5.57E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 125429806 C G - - - - - - 34 0 0 50 19 38 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.707464986 1.050840185 1.624856958 1.023426065 1.023426065 1 NA NA 1 NA NA 1 5 NA 1 1 5E-31 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 125566335 C T - - - - - - 37 0 0 43 19 44.2 44 17 38.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.986051379 1.222293057 1.624856958 2.025858775 1.129243872 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 1.36E-32 1 4.61E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 125612794 C A ENSG00000230519 ENST00000420567 r.? - - intronic 31 0 0 49 9 18.4 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.82677252 0.82677252 1 1.075909453 1.075909453 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-12 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 125757599 A T ENSG00000230519 ENST00000420567 r.? - - downstream 26 0 0 50 20 40 46 19 41.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.797331564 1.106147563 1.624856958 2.167563922 1.208232433 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 3.9E-33 1 6.97E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 125759756 C A - - - - - - 35 0 0 40 14 35 44 16 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.572665119 0.967879118 1.624856958 1.910395321 1.064882822 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 1.25E-22 1 5.57E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 125804923 G A - - - - - - 39 0 0 54 9 16.7 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.750385928 0.750385928 1 1.096902808 1.096902808 1 NA NA 1 NA NA 1 5 NA 1 1 8.48E-12 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 125881461 A C - - - - - - 41 0 0 49 11 22.4 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.006505676 1.006505676 1 0.991936032 0.991936032 1 NA NA 1 NA NA 1 5 NA 1 1 1.19E-15 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 126180427 A G GRM8 CCDS5794.1 r.? - - intronic 31 0 0 44 21 47.7 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 2.143317891 1.319080969 1.624856958 1.626985026 0.9069057 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 8.6E-37 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 126423492 G T GRM8 CCDS5794.1 r.? - - intronic 40 0 0 49 21 42.9 43 16 37.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.927638103 1.186343262 1.624856958 1.952382032 1.08828684 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 1.63E-35 1 3.56E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 126459122 G A GRM8 CCDS5794.1 r.? - - intronic 20 0 0 44 18 40.9 39 19 48.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.837771525 1.131035884 1.624856958 2.555940993 1.4247196 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 3.47E-30 1 1.2E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 126579554 T A GRM8 CCDS5794.1 r.? - - intronic 32 0 0 58 10 17.2 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.772852573 0.772852573 1 0.776754142 0.776754142 1 NA NA 1 NA NA 1 5 NA 1 1 4.1E-13 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 126781887 C G GRM8 CCDS5794.1 r.? - - intronic 29 0 0 47 14 29.8 41 17 41.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.339012016 1.339012016 1 2.1780606 1.214083437 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 1.03E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 126791302 C T GRM8 CCDS5794.1 r.? - - intronic 40 0 0 41 9 22 54 12 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.98853236 0.98853236 1 1.165131212 1.165131212 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 6.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 126793790 T A GRM8 CCDS5794.1 r.? - - intronic 30 0 0 50 13 26 35 4 11.4 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.168265517 1.168265517 1 0.598310623 0.598310623 1 NA NA 1 0 0 1 5 NA 1 1 3.65E-19 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 126863063 C A GRM8 CCDS5794.1 r.? - - intronic 33 0 0 48 10 20.8 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.934612414 0.934612414 1 1.558756622 1.558756622 1 NA NA 1 NA NA 1 5 NA 1 1 5.37E-14 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 127102022 A C - - - - - - 30 0 0 47 7 14.9 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.669506008 0.669506008 1 0.918459289 0.918459289 1 NA NA 1 NA NA 1 5 NA 1 1 4.12E-09 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 127562688 T C SND1 CCDS34747.1 r.? - - intronic 30 0 0 32 10 31.2 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.40191862 1.40191862 1 1.443293168 1.443293168 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 127753594 G C - - - - - - 33 0 0 47 10 21.3 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.957079058 0.957079058 1 1.254352972 1.254352972 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 127808400 G C - - - - - - 34 0 0 50 10 20 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.898665782 0.898665782 1 1.432796491 1.432796491 1 NA NA 1 NA NA 1 5 NA 1 1 8.36E-14 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 127881680 G C LEP CCDS5800.1 r.? - - intronic 32 0 0 39 14 35.9 45 15 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.613105079 0.992767438 1.624856958 1.747696819 0.974192252 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 9.14E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 129243879 G T - - - - - - 32 0 0 41 9 22 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.98853236 0.98853236 1 1.091654469 1.091654469 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 129483790 G C UBE2H CCDS5814.1 r.? - - intronic 34 0 0 37 14 37.8 33 16 48.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.698478328 1.045309447 1.624856958 2.545444315 1.418868595 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 3.35E-23 1 1.64E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 129533091 A T UBE2H CCDS5814.1 r.? - - intronic 36 0 0 43 6 14 49 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.629066048 0.629066048 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 8.13E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 130398011 A G - - - - - - 34 0 0 43 18 41.9 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.882704814 1.158689573 1.624856958 1.312084699 1.312084699 1 NA NA 1 NA NA 1 5 NA 1 1 2.06E-30 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 130445548 T G - - - - - - 36 0 0 49 17 34.7 45 15 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.559185132 0.959583011 1.624856958 1.747696819 0.974192252 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 4.26E-27 1 9.14E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 131240528 G A PODXL CCDS34755.1 r.? - - intronic 26 0 0 56 12 21.4 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.961572387 0.961572387 1 1.605991671 1.605991671 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-16 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 131539764 C A - - - - - - 37 0 0 44 13 29.5 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.325532029 1.325532029 1 0.892217595 0.892217595 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 131631660 C G - - - - - - 26 0 0 60 16 26.7 51 10 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.199718819 1.199718819 1 1.028674404 1.028674404 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-23 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 131720354 C G - - - - - - 32 0 0 35 6 17.1 30 7 23.3 217 0 0 140 18 12.9 83 19 22.9 TRUE TRUE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.768359244 0.768359244 1 1.222862939 1.222862939 1 0.57963943 0.927635393 0.624856958 1.201869584 1.201869584 1 5 4 1 1 2.24E-08 4.55E-20 1.44E-10 3.6E-26 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 7 131720368 C G - - - - - - 29 0 0 34 9 26.5 32 6 18.8 216 0 0 137 16 11.7 87 17 19.5 TRUE TRUE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.190732161 1.190732161 1 0.986687693 0.986687693 1 0.525719483 0.841343729 0.624856958 1.023426065 1.023426065 1 5 4 1 1 9.15E-14 2.55E-17 1.27E-08 2.71E-22 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 7 131972252 G C PLXNA4 CCDS43646.1 r.? - - intronic 36 0 0 35 6 17.1 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.768359244 0.768359244 1 1.13364118 1.13364118 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 132007074 G C PLXNA4 CCDS43646.1 r.? - - intronic 28 0 0 36 9 25 55 13 23.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.123332228 1.123332228 1 1.238607956 1.238607956 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 1.46E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 132024899 G A PLXNA4 CCDS43646.1 r.? - - intronic 27 0 0 37 10 27 38 16 42.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.213198806 1.213198806 1 2.209550632 1.231636451 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 3.06E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 132038585 T G PLXNA4 CCDS43646.1 r.? - - intronic 33 0 0 44 10 22.7 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.019985663 1.019985663 1 0.876472579 0.876472579 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 132066313 A C PLXNA4 CCDS43646.1 r.? - - intronic 34 0 0 49 8 16.3 45 14 31.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.732412613 0.732412613 1 1.632233365 0.909831202 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 1.47E-10 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 132167894 C T PLXNA4 CCDS43646.1 r.? - - intronic 26 0 0 48 18 37.5 35 14 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.684998342 1.037013341 1.624856958 2.099335518 1.170200903 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 2.42E-29 1 1.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 132244549 A T PLXNA4 CCDS43646.1 r.? - - intronic 40 0 0 43 18 41.9 39 20 51.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.882704814 1.158689573 1.624856958 2.692397802 1.500782659 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 2.06E-30 1 6E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 132398965 C T ENSG00000183470 ENST00000332558 r.? - - intronic 41 0 0 38 15 39.5 47 17 36.2 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.77486492 1.092320719 1.624856958 1.899898644 1.059031818 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 4.24E-25 1 1.81E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 132420680 C G - - - - - - 33 0 0 54 9 16.7 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.750385928 0.750385928 1 0.82923753 0.82923753 1 NA NA 1 NA NA 1 5 NA 1 1 8.48E-12 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 132746060 G C CHCHD3 CCDS5828.1 r.? - - intronic 25 0 0 50 9 18 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.808799204 0.808799204 1 0.771505803 0.771505803 1 NA NA 1 NA NA 1 5 NA 1 1 4.07E-12 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 132809399 G T - - - - - - 33 0 0 53 12 22.6 54 22 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.015492334 1.015492334 1 2.136073889 1.190679419 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 5.39E-17 1 1.6E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 132851762 C A - - - - - - 28 0 0 42 18 42.9 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.927638103 1.186343262 1.624856958 1.747696819 0.974192252 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 1.2E-30 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 132855144 G A - - - - - - 27 0 0 40 11 27.5 30 3 10 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.235665451 1.235665451 1 0.524833879 0.524833879 1 0 0 1 NA NA 1 5 NA 1 1 9.88E-17 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 132918571 T C - - - - - - 36 0 0 44 12 27.3 56 6 10.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.226678793 1.226678793 1 0.561572251 0.561572251 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 0.000000409 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 132952480 G A EXOC4 CCDS5829.1 r.? - - intronic 29 0 0 59 24 40.7 45 23 51.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.828784867 1.125505146 1.624856958 2.681901124 1.494931654 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 1.09E-39 1 4.42E-41 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 133135832 G C EXOC4 CCDS5829.1 r.? - - intronic 38 0 0 43 11 25.6 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.150292201 1.150292201 1 1.574501638 1.574501638 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 133136222 A T EXOC4 CCDS5829.1 r.? - - intronic 37 0 0 42 12 28.6 58 7 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.285092069 1.285092069 1 0.635048994 0.635048994 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 1.88E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 134100913 G T - - - - - - 32 0 0 38 15 39.5 42 17 40.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.77486492 1.092320719 1.624856958 2.125577212 1.184828415 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 4.24E-25 1 1.73E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 134254296 C G AKR1B15 CCDS47715.1 r.? - - intronic 29 0 0 50 10 20 53 10 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.898665782 0.898665782 1 0.991936032 0.991936032 1 NA NA 1 NA NA 1 5 NA 1 1 8.36E-14 1 1.57E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 134401670 T A - - - - - - 36 0 0 50 6 12 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.539199469 0.539199469 1 0.923707628 0.923707628 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000206 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 134594959 T A CALD1 CCDS5836.1 r.? - - intronic 28 0 0 50 17 34 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.52773183 0.940225429 1.624856958 0.818740852 0.818740852 1 NA NA 1 NA NA 1 5 NA 1 1 6.43E-27 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 134827498 C T AGBL3 ENST00000435976 r.? - - intronic 39 0 0 49 18 36.7 39 14 35.9 0 0 NA 1 0 0 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.64905171 1.014890389 1.624856958 1.884153627 1.050255311 1.79399581 0 0 1 NA NA 1 5 NA 1 1 3.8E-29 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 135113167 C A CNOT4 CCDS47719.1 r.? - - intronic 27 0 0 49 18 36.7 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.64905171 1.014890389 1.624856958 1.747696819 0.974192252 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 3.8E-29 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 135125791 T A CNOT4 CCDS47719.1 r.? - - intronic 40 0 0 54 10 18.5 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.831265849 0.831265849 1 1.275346327 1.275346327 1 NA NA 1 NA NA 1 5 NA 1 1 1.91E-13 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 135262667 G A NUP205 CCDS34759.1 r.798g>a c.772G>A p.V258I missense 30 0 0 55 14 25.5 38 7 18.4 253 0 0 140 35 25 40 12 30 TRUE TRUE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.145798872 1.145798872 1 0.965694338 0.965694338 1 1.123332228 1.123332228 1 1.574501638 1.574501638 1 5 4 1 1 2.19E-20 2.1E-48 8.61E-10 1.2E-18 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 7 135306860 G C NUP205 CCDS34759.1 r.? - - intronic 40 0 0 47 8 17 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.763865915 0.763865915 1 0.855479224 0.855479224 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-10 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 135609532 C G LUZP6 CCDS5842.1 r.? - - downstream 33 0 0 44 17 38.6 48 15 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.73442496 1.067432399 1.624856958 1.637481704 0.912756705 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 4.61E-28 1 2.86E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 135802366 C T - - - - - - 25 0 0 42 11 26.2 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.177252175 1.177252175 1 1.075909453 1.075909453 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 135887052 C T - - - - - - 34 0 0 52 24 46.2 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 2.075917957 1.277600436 1.624856958 1.432796491 1.432796491 1 NA NA 1 NA NA 1 5 NA 1 1 2.22E-41 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 135891094 C T - - - - - - 32 0 0 50 20 40 42 20 47.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.797331564 1.106147563 1.624856958 2.498209266 1.392539075 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 3.9E-33 1 4.41E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 135910053 C T - - - - - - 41 0 0 53 11 20.8 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.934612414 0.934612414 1 0.766257464 0.766257464 1 NA NA 1 NA NA 1 5 NA 1 1 3.07E-15 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 135919709 A G - - - - - - 49 0 0 55 24 43.6 47 19 40.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.959091405 1.205700844 1.624856958 2.120328873 1.181902913 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 1.28E-40 1 1.16E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 136022134 T A - - - - - - 34 1 2.9 48 14 29.2 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.312052042 1.312052042 1 0.6088073 0.6088073 1 NA NA 1 NA NA 1 5 NA 0.156694864 1 2.51E-21 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 136211696 G A - - - - - - 23 0 0 53 14 26.4 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.186238833 1.186238833 1 1.658475059 0.924458714 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 1.22E-20 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 136714283 G C - - - - - - 35 0 0 48 13 27.1 46 15 32.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.217692135 1.217692135 1 1.710958447 0.953713736 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 2E-19 1 1.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 137144965 T C DGKI CCDS5845.1 r.? - - intronic 53 0 0 53 10 18.9 49 13 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.849239164 0.849239164 1 1.390809781 1.390809781 1 NA NA 1 NA NA 1 5 NA 1 1 1.57E-13 1 2.71E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 137222323 G C DGKI CCDS5845.1 r.? - - intronic 30 0 0 46 21 45.7 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 2.053451312 1.263773591 1.624856958 1.312084699 1.312084699 1 NA NA 1 NA NA 1 5 NA 1 1 2.94E-36 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 137691389 G C CREB3L2 CCDS34760.1 r.? - - upstream 21 0 0 43 16 37.2 41 17 41.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.671518355 1.028717234 1.624856958 2.1780606 1.214083437 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 3.56E-26 1 1.03E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 137707068 A T - - - - - - 30 0 0 30 11 36.7 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.64905171 1.014890389 1.624856958 1.553508283 1.553508283 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 137874965 G T - - - - - - 32 0 0 40 17 42.5 46 15 32.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.909664787 1.175281786 1.624856958 1.710958447 0.953713736 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 6.07E-29 1 1.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 137891553 G A - - - - - - 37 0 0 48 17 35.4 29 11 37.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.590638435 0.978940594 1.624856958 1.989120403 1.108765356 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 2.8E-27 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 137927758 A G - - - - - - 34 0 0 47 14 29.8 54 21 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.339012016 1.339012016 1 2.041603791 1.138020379 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 1.79E-21 1 2.12E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 138142601 T C TRIM24 CCDS5847.1 r.? - - upstream 34 0 0 47 11 23.4 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.051438965 1.051438965 1 0.771505803 0.771505803 1 NA NA 1 NA NA 0 5 NA 1 1 7.21E-16 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 138239661 C T TRIM24 CCDS5847.1 r.1695c>u c.1480C>T p.P494S missense 37 0 0 63 17 27 45 3 6.7 197 0 0 126 30 23.8 69 3 4.3 TRUE TRUE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.213198806 1.213198806 1 0.351638699 0.442872235 0.79399581 1.069412281 1.069412281 1 0.225678568 0.225678568 1 5 5 1 1 6.22E-25 5.27E-41 0.001516071 0.005121501 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 7 138397999 G A ATP6V0A4 CCDS5849.1 r.? - - intronic 19 0 0 41 14 34.1 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.532225159 1.532225159 1 0.729519092 0.729519092 1 NA NA 1 NA NA 0 5 NA 1 1 1.9E-22 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 138686261 G T - - - - - - 25 0 0 46 12 26.1 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.172758846 1.172758846 1 1.464286524 1.464286524 1 NA NA 1 NA NA 0 5 NA 1 1 8.12E-18 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 138811061 C T - - - - - - 18 0 0 30 10 33.3 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.496278527 1.496278527 1 0.876472579 0.876472579 1 NA NA 1 NA NA 0 5 NA 1 1 2.68E-16 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 138868832 A G TTC26 CCDS5852.1 r.? - - intronic 24 0 0 40 8 20 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.898665782 0.898665782 1 1.165131212 1.165131212 1 NA NA 1 NA NA 0 5 NA 1 1 2.61E-11 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 139003624 G A - - - - - - 33 0 0 35 11 31.4 56 17 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.410905278 1.410905278 1 1.595494994 0.889352687 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 6.22E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 139228588 T C CLEC2L CCDS47724.1 r.? - - intronic 22 0 0 44 17 38.6 35 15 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.73442496 1.067432399 1.624856958 2.251537343 1.255040469 1.79399581 NA NA 1 NA NA 1 5 NA 1 1 4.61E-28 1 9.02E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 139370564 T G HIPK2 ENST00000406875 r.? - - intronic 35 0 0 63 17 27 53 6 11.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.213198806 1.213198806 1 0.593062284 0.593062284 1 NA NA 1 NA NA 0 5 NA 1 1 6.22E-25 1 0.000000293 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 139528102 T C TBXAS1 CCDS5855.1 r.? - - intronic 39 0 0 40 19 47.5 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 2.134331233 1.313550231 1.624856958 1.705710108 0.950788234 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 2.27E-33 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 139605481 A G TBXAS1 CCDS5855.1 r.? - - intronic 29 0 0 61 28 45.9 45 20 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 2.06243797 1.269304329 1.624856958 2.330262425 1.298923003 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 6.09E-48 1 2.68E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 139702270 T C TBXAS1 CCDS5855.1 r.? - - intronic 23 0 0 40 14 35 46 24 52.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.572665119 0.967879118 1.624856958 2.739632851 1.527112179 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 1.25E-22 1 4.23E-43 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 139772323 G C - - - - - - 29 0 0 44 17 38.6 57 25 43.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.73442496 1.067432399 1.624856958 2.304020731 1.284295492 1.79399581 NA NA 1 NA NA 0 5 NA 1 1 4.61E-28 1 2.54E-42 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 139819769 T A JHDM1D CCDS43658.1 r.? - - intronic 33 0 0 50 6 12 52 10 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.539199469 0.539199469 1 1.007681049 1.007681049 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000206 1 1.28E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 139866373 C T JHDM1D CCDS43658.1 r.? - - intronic 39 0 0 47 16 34 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.52773183 0.940225429 1.624856958 1.516769912 1.516769912 1 NA NA 1 NA NA 0 5 NA 1 1 1.98E-25 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 139886863 A T - - - - - - 15 0 0 54 12 22.2 49 14 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.997519018 0.997519018 1 1.501024895 1.501024895 1 NA NA 1 NA NA 0 5 NA 1 1 6.9E-17 1 3.5E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 140180384 G A MKRN9P CCDS5860.1 r.? - - upstream 25 0 0 46 14 30.4 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.365971989 1.365971989 1 1.605991671 1.605991671 1 NA NA 1 NA NA 0 5 NA 1 1 1.26E-21 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 140375602 G A ADCK2 CCDS5861.1 r.? - - intronic 30 0 0 54 15 27.8 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 1.249145437 1.249145437 1 1.275346327 1.275346327 1 NA NA 1 NA NA 0 5 NA 1 1 2.2E-22 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 140465901 C T BRAF CCDS5863.1 r.? - - intronic 29 0 0 53 8 15.1 38 1 2.6 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA 2.79399581 NA 1 NA 1 NA 0.20600419 NA 2 NA 1 NA 0.79399581 NA NA 1 0.136456809 NA 0 NA NA 1 NA NA 0 NA NA 1 1 2.83E-10 1 0.173434892 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 140488216 T G BRAF CCDS5863.1 r.? - - intronic 39 0 0 79 13 16.5 54 8 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 2.79399581 2 1 1 1 0.607643215 0.20600419 3 2 1 1 0.392356785 0.79399581 0.868036742 0.868036742 1 0.776754142 0.776754142 1 NA NA 1 NA NA 0 5 NA 1 1 2.37E-16 1 3.31E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 140608035 A G BRAF CCDS5863.1 r.? - - intronic 32 0 0 53 10 18.9 56 10 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 2.79399581 2 1 1 1 0.607643215 0.20600419 3 2 1 1 0.392356785 0.79399581 0.994296632 0.994296632 1 0.939452644 0.939452644 1 NA NA 1 NA NA 0 5 NA 1 1 1.57E-13 1 2.82E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 141086069 T C - - - - - - 30 0 0 65 13 20 58 12 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 3.665370368 2 2 1 1 0.607643215 0.334629632 3 3 1 1 0.392356785 0.665370368 1.052165748 1.052165748 1 1.266780664 1.266780664 1 NA NA 1 NA NA 0 5 NA 1 1 1.57E-17 1 1.76E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 141159079 C T ENSG00000230744 ENST00000437284 r.? - - intronic 42 0 0 51 24 47.1 38 15 39.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 3.665370368 2 2 1 1 0.607643215 0.334629632 3 3 1 1 0.392356785 0.665370368 2.477850336 1.035736121 2.392356785 2.417286774 0.906923407 2.665370368 NA NA 1 NA NA 0 5 NA 1 1 1.2E-41 1 4.24E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 141183035 C A - - - - - - 36 0 0 64 9 14.1 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 3.665370368 2 2 1 1 0.607643215 0.334629632 3 3 1 1 0.392356785 0.665370368 0.741776852 0.741776852 1 1.529928338 1.529928338 1 NA NA 1 NA NA 0 5 NA 1 1 4.2E-11 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 141232121 C A - - - - - - 33 0 0 43 22 51.2 47 13 27.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 3.665370368 2 2 1 1 0.607643215 0.334629632 3 3 1 1 0.392356785 0.665370368 2.693544314 1.125895741 2.392356785 1.695160599 1.017888051 1.665370368 NA NA 1 NA NA 0 5 NA 1 1 2.27E-39 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 142398721 C G - - - - - - 26 0 0 48 17 35.4 41 24 58.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 3.665370368 2 2 1 1 0.607643215 0.334629632 3 3 1 1 0.392356785 0.665370368 1.862333373 0.931166687 2 3.580032311 1.343165045 2.665370368 NA NA 1 NA NA 0 5 NA 1 1 2.8E-27 1 8.33E-45 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 142452242 G T - - - - - - 26 0 0 49 26 53.1 40 17 42.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 3.665370368 2 2 1 1 0.607643215 0.334629632 3 3 1 1 0.392356785 0.665370368 2.79350006 1.167677028 2.392356785 2.600878175 0.975803665 2.665370368 NA NA 1 NA NA 0 5 NA 1 1 7.78E-47 1 6.07E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 142903641 A G - - - - - - 28 0 0 51 17 33.3 36 14 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 3.665370368 2 2 1 1 0.607643215 0.334629632 3 3 1 1 0.392356785 0.665370368 1.75185597 0.875927985 2 2.380568494 0.893147355 2.665370368 NA NA 1 NA NA 0 5 NA 1 1 9.59E-27 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 143023081 C T CLCN1 CCDS5881.1 r.? - - intronic 27 0 0 54 24 44.4 51 22 43.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 3.665370368 2 2 1 1 0.607643215 0.334629632 3 3 1 1 0.392356785 0.665370368 2.33580796 0.976362713 2.392356785 2.637596455 0.989579717 2.665370368 NA NA 1 NA NA 0 5 NA 1 1 7.24E-41 1 3.24E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 143714413 G A - - - - - - 40 0 0 64 15 23.4 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 3.665370368 2 2 1 1 0.607643215 0.334629632 3 3 1 1 0.392356785 0.665370368 1.231033925 1.231033925 1 0.875119009 0.875119009 1 NA NA 1 NA NA 0 5 NA 1 1 3.87E-21 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 143901937 C A - - - - - - 27 0 0 52 13 25 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 3.665370368 2 2 1 1 0.607643215 0.334629632 3 3 1 1 0.392356785 0.665370368 1.315207185 1.315207185 1 1.22394267 1.22394267 1 NA NA 1 NA NA 0 5 NA 1 1 6.47E-19 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 144241449 A T TPK1 CCDS5888.1 r.? - - intronic 33 0 0 60 14 23.3 36 3 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 3.665370368 2 2 1 1 0.607643215 0.334629632 3 3 1 1 0.392356785 0.665370368 1.225773096 1.225773096 1 0.507936208 0.507936208 1 NA NA 1 NA NA 0 5 NA 1 1 8.54E-20 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 144446852 A G TPK1 CCDS5888.1 r.? - - intronic 35 0 0 47 6 12.8 48 6 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 3.665370368 2 2 1 1 0.607643215 0.334629632 3 3 1 1 0.392356785 0.665370368 0.673386078 0.673386078 1 0.764964169 0.764964169 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000141 1 0.00000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 144472409 T A TPK1 CCDS5888.1 r.? - - intronic 31 0 0 52 30 57.7 50 17 34 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 3.665370368 2 2 1 1 0.607643215 0.334629632 3 3 1 1 0.392356785 0.665370368 3.035498182 1.268831723 2.392356785 2.08070254 1.04035127 2 NA NA 1 NA NA 0 5 NA 1 1 2.26E-55 1 6.43E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 144546097 G T - - - - - - 27 0 0 55 25 45.5 47 24 51.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 3.665370368 2 2 1 1 0.607643215 0.334629632 3 3 1 1 0.392356785 0.665370368 2.393677076 1.000551879 2.392356785 3.127173523 1.173260407 2.665370368 NA NA 1 NA NA 0 5 NA 1 1 7.96E-43 1 8.6E-43 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 144806077 T C - - - - - - 29 0 0 52 26 50 50 20 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 3.665370368 2 2 1 1 0.607643215 0.334629632 3 3 1 1 0.392356785 0.665370368 2.630414369 1.099507559 2.392356785 2.447885341 0.91840345 2.665370368 NA NA 1 NA NA 0 5 NA 1 1 6.52E-46 1 3.9E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 145011573 T G - - - - - - 31 0 0 42 12 28.6 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.18708646 1.18708646 1 1.499747864 1.499747864 1 NA NA 1 NA NA 0 5 NA 1 1 2.35E-18 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 145227740 A T - - - - - - 45 0 0 49 14 28.6 55 10 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.18708646 1.18708646 1 0.931583997 0.931583997 1 NA NA 1 NA NA 0 5 NA 1 1 3.5E-21 1 2.33E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 145245705 C A - - - - - - 31 0 0 39 12 30.8 47 15 31.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.278400803 1.278400803 1 1.632831292 0.981121161 1.664250407 NA NA 1 NA NA 0 5 NA 1 1 8.43E-19 1 1.97E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 145441143 A G - - - - - - 30 0 0 43 11 25.6 36 3 8.3 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.062566901 1.062566901 1 0.424843251 0.424843251 1 NA NA 1 0 NA 0 5 NA 1 1 2.42E-16 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 145751497 C A - - - - - - 34 0 0 58 24 41.4 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.718369911 1.34019397 1.282180004 1.520222237 1.520222237 1 NA NA 1 NA NA 0 5 NA 1 1 6.49E-40 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 145754418 A T - - - - - - 40 0 0 40 10 25 49 12 24.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.037662989 1.037662989 1 1.254055381 1.254055381 1 NA NA 1 NA NA 0 5 NA 1 1 7.22E-15 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 145939491 C A CNTNAP2 CCDS5889.1 r.? - - intronic 29 0 0 44 13 29.5 55 21 38.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.224442328 1.224442328 1 1.955302675 1.174884902 1.664250407 NA NA 1 NA NA 0 5 NA 1 1 5.49E-20 1 3.41E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 146032479 G A CNTNAP2 CCDS5889.1 r.? - - intronic 35 0 0 49 18 36.7 57 20 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.523289269 1.188046346 1.282180004 1.79662628 1.079540839 1.664250407 NA NA 1 NA NA 0 5 NA 1 1 3.8E-29 1 9.67E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 146212744 T A CNTNAP2 CCDS5889.1 r.? - - intronic 46 0 0 53 17 32.1 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.332359278 1.332359278 1 0.92134681 0.92134681 1 NA NA 1 NA NA 0 5 NA 1 1 2.08E-26 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 146280611 A T CNTNAP2 CCDS5889.1 r.? - - intronic 25 0 0 42 10 23.8 50 13 26 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.987855166 0.987855166 1 1.330834282 1.330834282 1 NA NA 1 NA NA 0 5 NA 1 1 1.24E-14 1 3.65E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 146296267 A G CNTNAP2 CCDS5889.1 r.? - - intronic 35 0 0 57 20 35.1 49 11 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.456878837 1.13625141 1.282180004 1.14656492 1.14656492 1 NA NA 1 NA NA 0 5 NA 1 1 9.67E-32 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 146354368 C A CNTNAP2 CCDS5889.1 r.? - - intronic 28 0 0 33 12 36.4 46 14 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.510837313 1.510837313 1 1.556052391 0.934986937 1.664250407 NA NA 1 NA NA 0 5 NA 1 1 7.86E-20 1 1.26E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 146394705 G A CNTNAP2 CCDS5889.1 r.? - - intronic 41 0 0 36 12 33.3 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.382167102 1.382167102 1 0.731958855 0.731958855 1 NA NA 1 NA NA 0 5 NA 1 1 2.73E-19 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 146629102 A G CNTNAP2 CCDS5889.1 r.? - - intronic 18 0 0 16 5 31.2 9 1 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.295003411 1.295003411 1 0.568163866 0.568163866 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000013 1 0.044110422 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 146849402 T A CNTNAP2 CCDS5889.1 r.? - - intronic 27 0 0 45 12 26.7 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.108224073 1.108224073 1 1.658424259 0.996499236 1.664250407 NA NA 1 NA NA 0 5 NA 1 1 6.03E-18 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 146952001 A T CNTNAP2 CCDS5889.1 r.? - - intronic 35 0 0 51 5 9.8 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.406763892 1.441505017 0.282180004 1.003244305 1.003244305 1 NA NA 1 NA NA 0 5 NA 1 1 0.00000606 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 146953666 A C CNTNAP2 CCDS5889.1 r.? - - intronic 27 0 0 44 7 15.9 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.659953661 0.659953661 1 1.069786019 1.069786019 1 NA NA 1 NA NA 0 5 NA 1 1 2.55E-09 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 146970391 G T CNTNAP2 CCDS5889.1 r.? - - intronic 32 0 0 47 17 36.2 48 20 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.502536009 1.171860428 1.282180004 2.134453444 1.282531424 1.664250407 NA NA 1 NA NA 0 5 NA 1 1 1.81E-27 1 1.4E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 147379617 A T CNTNAP2 CCDS5889.1 r.? - - intronic 31 0 0 51 7 13.7 54 1 1.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.568639318 0.568639318 1 0.097253274 0.097253274 1 NA NA 1 NA NA 0 3 NA 1 1 7.46E-09 1 0.237137336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 147421910 A C CNTNAP2 CCDS5889.1 r.? - - intronic 36 0 0 37 12 32.4 55 11 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.344811234 1.344811234 1 1.023718678 1.023718678 1 NA NA 1 NA NA 0 5 NA 1 1 4.03E-19 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 147739569 G A CNTNAP2 CCDS5889.1 r.? - - intronic 28 0 0 54 13 24.1 47 15 31.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.000307122 1.000307122 1 1.632831292 0.981121161 1.664250407 NA NA 1 NA NA 0 5 NA 1 1 1.12E-18 1 1.97E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 147877062 A C CNTNAP2 CCDS5889.1 r.? - - intronic 34 0 0 68 14 20.6 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.855034303 0.855034303 1 1.535578017 1.535578017 1 NA NA 1 NA NA 0 5 NA 1 1 5.84E-19 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 148085276 T C CNTNAP2 CCDS5889.1 r.? - - intronic 32 0 0 34 14 41.2 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.710068607 1.333719603 1.282180004 1.504866457 1.504866457 1 NA NA 1 NA NA 0 5 NA 1 1 7.74E-24 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 148198230 C T AC083849.3 ENST00000504155 r.? - - upstream 31 0 0 48 13 27.1 32 3 9.4 0 0 NA 2 0 0 1 0 0 TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.124826681 1.124826681 1 0.481147779 0.481147779 1 0 0 1 0 NA 0 5 NA 1 1 2E-19 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 148276208 G A - - - - - - 31 0 0 51 9 17.6 51 8 15.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.730514745 0.730514745 1 0.803619162 0.803619162 1 NA NA 1 NA NA 0 5 NA 1 1 4.92E-12 1 2.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 148278401 G C - - - - - - 34 0 0 51 14 27.5 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.141429288 1.141429288 1 0.967414151 0.967414151 1 NA NA 1 NA NA 0 5 NA 1 1 6.64E-21 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 148334436 C T - - - - - - 32 0 0 36 8 22.2 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.921444735 0.921444735 1 1.371783029 1.371783029 1 NA NA 1 NA NA 0 5 NA 1 1 1.04E-11 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 148657343 T C - - - - - - 29 0 0 40 8 20 56 16 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.830130392 0.830130392 1 1.46391771 1.46391771 1 NA NA 1 NA NA 0 5 NA 1 1 2.61E-11 1 5.26E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 148937832 G A ZNF212 CCDS5896.1 r.? - - intronic 34 0 0 46 9 19.6 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.813527784 0.813527784 1 1.202869447 1.202869447 1 NA NA 1 NA NA 0 5 NA 1 1 1.82E-12 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 149170267 A C ZNF746 CCDS5897.1 r.3424u>g c.? p.? 3'UTR variant 32 0 0 37 15 40.5 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.681014043 1.311059319 1.282180004 1.238699601 1.238699601 1 NA NA 1 NA NA 0 5 NA 1 1 2.58E-25 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 149515610 C T SSPO ENST00000378016 r.? - - intronic 33 0 0 49 21 42.9 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.78062969 1.388751723 1.282180004 1.653305665 1.653305665 1 NA NA 1 NA NA 0 5 NA 1 1 1.63E-35 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 149553564 A G ZNF862 CCDS47741.1 r.? - - intronic 21 0 0 49 14 28.6 43 18 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.18708646 1.18708646 1 2.144690631 1.288682654 1.664250407 NA NA 1 NA NA 0 5 NA 1 1 3.5E-21 1 2.06E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 149781610 A T - - - - - - 38 0 0 49 12 24.5 58 9 15.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.01690973 1.01690973 1 0.793381976 0.793381976 1 NA NA 1 NA NA 0 5 NA 1 1 1.9E-17 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 149962297 C T ACTR3C CCDS47744.1 r.? - - intronic 36 0 0 52 18 34.6 45 16 35.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.436125577 1.436125577 1 1.822219247 1.094918914 1.664250407 NA NA 1 NA NA 0 5 NA 1 1 1.39E-28 1 8.61E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 150130739 G T - - - - - - 33 0 0 44 21 47.7 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.979860984 1.544136531 1.282180004 1.305241315 1.305241315 1 NA NA 1 NA NA 0 5 NA 1 1 8.6E-37 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 150336344 G T - - - - - - 26 0 0 51 15 29.4 49 16 32.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.220291676 1.220291676 1 1.673780039 1.005726081 1.664250407 NA NA 1 NA NA 1 5 NA 1 1 8.22E-23 1 4.37E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 150433098 A G GIMAP5 CCDS5907.1 r.? - - upstream 43 0 0 43 14 32.6 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.353112538 1.353112538 1 0.972532744 0.972532744 1 NA NA 1 NA NA 1 5 NA 1 1 4.18E-22 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 150558687 C A ABP1 CCDS43679.1 r.? - - downstream 21 0 0 53 19 35.8 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.485933401 1.158911694 1.282180004 1.136327733 1.136327733 1 NA NA 1 NA NA 0 5 NA 1 1 1.93E-30 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 150709384 A T NOS3 CCDS5912.1 r.? - - intronic 25 0 0 58 12 20.7 48 13 27.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.859184955 0.859184955 1 1.387138809 1.387138809 1 NA NA 1 NA NA 0 5 NA 1 1 1.76E-16 1 2E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 151024915 A G - - - - - - 38 0 0 42 5 11.9 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.493927583 0.493927583 1 0.89063525 0.89063525 1 NA NA 1 NA NA 0 5 NA 1 1 0.00000228 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 151113040 A T - - - - - - 28 0 0 51 13 25.5 56 21 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.058416249 1.058416249 1 1.919472522 1.153355597 1.664250407 NA NA 1 NA NA 0 5 NA 1 1 4.87E-19 1 5.43E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 151377016 T C PRKAG2 CCDS43683.1 r.? - - intronic 25 0 0 41 12 29.3 38 18 47.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.216141024 1.216141024 1 2.426213267 1.457841475 1.664250407 NA NA 1 NA NA 0 5 NA 1 1 1.69E-18 1 1.16E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 151519636 G C PRKAG2 CCDS43683.1 r.? - - intronic 33 0 0 41 6 14.6 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.605995186 0.605995186 1 1.080023206 1.080023206 1 NA NA 1 NA NA 0 5 NA 1 1 6.05E-08 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 151543014 T C PRKAG2 CCDS43683.1 r.? - - intronic 25 0 0 52 23 44.2 37 14 37.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.834588165 1.430835108 1.282180004 1.934828302 1.162582442 1.664250407 NA NA 1 NA NA 0 5 NA 1 1 3.66E-39 1 3.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 151743119 G A GALNT11 CCDS5930.1 r.? - - intronic 32 0 0 48 12 25 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.037662989 1.037662989 1 1.341071468 1.341071468 1 NA NA 1 NA NA 0 5 NA 1 1 1.44E-17 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 151857273 T G BAGE3 CCDS5931.1 r.? - - intronic 36 0 0 43 10 23.3 34 4 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.967101906 0.967101906 1 0.60399402 0.60399402 1 NA NA 1 NA NA 0 5 NA 1 1 1.61E-14 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 151918446 G T BAGE3 CCDS5931.1 r.? - - intronic 41 0 0 42 13 31 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.286702107 1.286702107 1 1.023718678 1.023718678 1 NA NA 1 NA NA 0 5 NA 1 1 2.72E-20 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 152066272 G C BAGE3 CCDS5931.1 r.? - - intronic 32 0 0 45 13 28.9 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 1.199538416 1.199538416 1 0.900872437 0.900872437 1 NA NA 1 NA NA 0 5 NA 1 1 7.68E-20 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 152203670 T A - - - - - - 25 0 0 40 13 32.5 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.348961886 1.348961886 1 1.113585746 1.113585746 1 NA NA 1 NA NA 0 5 NA 1 1 1.3E-20 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 152335626 T A - - - - - - 27 0 0 44 9 20.5 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.850883651 0.850883651 1 0.797327394 0.797327394 1 NA NA 1 NA NA 0 5 NA 1 1 1.18E-12 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 152432071 G T - - - - - - 40 0 0 44 10 22.7 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.942197994 0.942197994 1 0.743875278 0.743875278 1 NA NA 1 NA NA 0 5 NA 1 1 2.08E-14 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 152689195 G A - - - - - - 37 0 0 54 14 25.9 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.075018857 1.075018857 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-20 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 152833264 C A - - - - - - 32 0 0 49 13 26.5 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.099922769 1.099922769 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.71E-19 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 152844830 T C - - - - - - 36 0 0 47 14 29.8 37 7 18.9 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.236894283 1.236894283 1 0.841870824 0.841870824 1 NA NA 1 NA NA 0 5 NA 1 1 1.79E-21 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 153281708 A G - - - - - - 36 0 0 46 10 21.7 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.900691475 0.900691475 1 0.890868597 0.890868597 1 NA NA 1 NA NA 0 5 NA 1 1 3.38E-14 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 153704181 T A DPP6 ENST00000404039 r.? - - intronic 35 0 0 41 13 31.7 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.315756671 1.315756671 1 1.363028953 1.363028953 1 NA NA 1 NA NA 0 5 NA 1 1 1.89E-20 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 153840802 A G DPP6 ENST00000404039 r.? - - intronic 17 0 0 25 8 32 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.328208627 1.328208627 1 0.855233853 0.855233853 1 NA NA 1 NA NA 0 5 NA 1 1 3.92E-13 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 153879793 T C DPP6 ENST00000404039 r.? - - intronic 27 0 0 45 6 13.3 29 2 6.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.55203671 0.55203671 1 0.307349666 0.307349666 1 NA NA 1 NA NA 0 5 NA 1 1 0.000000108 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 153980739 G A DPP6 ENST00000404039 r.? - - intronic 44 0 0 52 12 23.1 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.958800602 0.958800602 1 1.398663697 1.398663697 1 NA NA 1 NA NA 0 5 NA 1 1 4.19E-17 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 153986177 G A DPP6 ENST00000404039 r.? - - intronic 33 0 0 47 15 31.9 50 11 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.324057975 1.324057975 1 0.979955457 0.979955457 1 NA NA 1 NA NA 0 5 NA 1 1 1.97E-23 1 1.52E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 153998174 A G DPP6 ENST00000404039 r.? - - intronic 26 0 0 34 11 32.4 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.344811234 1.344811234 1 0.926503341 0.926503341 1 NA NA 1 NA NA 0 5 NA 1 1 1.26E-17 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 154197105 C T DPP6 ENST00000404039 r.? - - intronic 26 0 0 33 12 36.4 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.510837313 1.510837313 1 1.037861915 1.037861915 1 NA NA 1 NA NA 0 5 NA 1 1 7.86E-20 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 154482331 C A DPP6 ENST00000404039 r.? - - intronic 19 0 0 32 8 25 26 7 26.9 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.037662989 1.037662989 1 1.198218263 1.198218263 1 NA NA 1 NA NA 0 5 NA 1 1 3.69E-12 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 154575365 T C DPP6 ENST00000404039 r.? - - intronic 33 0 0 47 13 27.7 21 4 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.149730592 1.149730592 1 0.846325167 0.846325167 1 NA NA 1 NA NA 0 5 NA 1 1 1.47E-19 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 154919015 C G - - - - - - 46 0 0 36 11 30.6 49 6 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.270099499 1.270099499 1 0.543429844 0.543429844 1 NA NA 1 NA NA 0 5 NA 1 1 2.62E-17 1 0.000000182 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 154939741 T G - - - - - - 34 0 0 28 8 28.6 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.18708646 1.18708646 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 154976512 G A - - - - - - 28 0 0 36 13 36.1 37 4 10.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.498385357 1.498385357 1 0.481069042 0.481069042 1 NA NA 1 NA NA 0 5 NA 1 1 2.53E-21 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 155001261 C G - - - - - - 32 0 0 25 8 32 18 2 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.328208627 1.328208627 1 0.494432071 0.494432071 1 NA NA 1 NA NA 0 5 NA 1 1 3.92E-13 1 0.003626632 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 155107052 G C - - - - - - 38 0 0 43 11 25.6 45 13 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.062566901 1.062566901 1 1.287305122 1.287305122 1 NA NA 1 NA NA 0 5 NA 1 1 2.42E-16 1 7.68E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 155141625 C T - - - - - - 25 0 0 42 15 35.7 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.481782749 1.481782749 1 0.654788419 0.654788419 1 NA NA 1 NA NA 0 5 NA 1 1 2.65E-24 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 155183609 A G ENSG00000218672 ENST00000401499 r.? - - intronic 38 0 0 48 11 22.9 42 14 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.950499298 0.950499298 1 1.483296214 1.483296214 1 NA NA 1 NA NA 0 5 NA 1 1 9.31E-16 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 155278216 G A CNPY1 CCDS43684.1 r.? - - intronic 33 0 0 36 5 13.9 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.576940622 0.576940622 1 1.322939866 1.322939866 1 NA NA 1 NA NA 0 5 NA 1 1 0.00000104 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 155354031 G A - - - - - - 26 0 0 51 14 27.5 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.141429288 1.141429288 1 0.913140312 0.913140312 1 NA NA 1 NA NA 0 5 NA 1 1 6.64E-21 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 155425811 G T ENSG00000216895 ENST00000401694 r.? - - intronic 39 0 0 41 8 19.5 41 14 34.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.809377132 0.809377132 1 1.518930958 1.518930958 1 NA NA 1 NA NA 0 5 NA 1 1 3.22E-11 1 1.9E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 155486378 G T RBM33 CCDS5941.2 r.? - - intronic 30 0 0 32 7 21.9 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.908992779 0.908992779 1 1.723830735 1.723830735 1 NA NA 1 NA NA 0 5 NA 1 1 2.36E-10 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 155743317 G A ENSG00000204876 ENST00000424278 r.? - - upstream 36 0 0 39 9 23.1 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.958800602 0.958800602 1 1.19376392 1.19376392 1 NA NA 1 NA NA 0 5 NA 1 1 3.62E-13 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 155863047 C G - - - - - - 27 0 0 59 19 32.2 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.33650993 1.33650993 1 1.287305122 1.287305122 1 NA NA 1 NA NA 0 5 NA 1 1 2.2E-29 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 156173402 G C - - - - - - 34 0 0 33 9 27.3 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.133127985 1.133127985 1 1.216035635 1.216035635 1 NA NA 1 NA NA 0 5 NA 1 1 6.76E-14 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 156421769 G A - - - - - - 39 0 0 49 21 42.9 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.78062969 1.388751723 1.282180004 0.913140312 0.913140312 1 NA NA 1 NA NA 0 5 NA 1 1 1.63E-35 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 156532147 G T LMBR1 CCDS5945.1 r.? - - intronic 18 0 0 36 15 41.7 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.730821866 1.349905521 1.282180004 1.273942094 1.273942094 1 NA NA 1 NA NA 0 5 NA 1 1 1.54E-25 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 156538287 A T LMBR1 CCDS5945.1 r.? - - intronic 31 0 0 37 9 24.3 46 15 32.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.008608426 1.008608426 1 1.452115813 1.452115813 1 NA NA 1 NA NA 0 5 NA 1 1 2.14E-13 1 1.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 156801597 C T MNX1 CCDS34788.1 r.? - - intronic 29 0 0 39 12 30.8 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.278400803 1.278400803 1 1.371937639 1.371937639 1 NA NA 1 NA NA 0 5 NA 1 1 8.43E-19 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 157073771 G C - - - - - - 26 0 0 40 12 30 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.245195587 1.245195587 1 0.614699332 0.614699332 1 NA NA 1 NA NA 0 5 NA 1 1 1.2E-18 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 157333027 T A PTPRN2 CCDS5947.1 r.3439a>u c.? p.? 3'UTR variant 18 0 0 33 12 36.4 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.510837313 1.510837313 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 157396650 A T PTPRN2 CCDS5949.1 r.? - - intronic 26 0 0 31 6 19.4 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.80522648 0.80522648 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-08 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 157405311 G A PTPRN2 CCDS5949.1 r.? - - intronic 21 0 0 39 11 28.2 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.170483852 1.170483852 1 1.318485523 1.318485523 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 157425926 G T PTPRN2 CCDS5949.1 r.? - - intronic 22 0 0 38 14 36.8 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.527439921 1.527439921 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 157573616 C A PTPRN2 CCDS5949.1 r.? - - intronic 31 0 0 37 10 27 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.120676029 1.120676029 1 1.318485523 1.318485523 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 157618565 A G PTPRN2 CCDS5949.1 r.? - - intronic 33 0 0 33 10 30.3 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.257647543 1.257647543 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 157749993 A G PTPRN2 CCDS5949.1 r.? - - intronic 32 0 0 38 8 21.1 49 12 24.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.875787563 0.875787563 1 1.091314031 1.091314031 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 157802205 A T PTPRN2 CCDS5949.1 r.? - - intronic 40 0 0 35 10 28.6 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.18708646 1.18708646 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 157820123 G T PTPRN2 CCDS5949.1 r.? - - intronic 30 0 0 33 7 21.2 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.879938215 0.879938215 1 1.318485523 1.318485523 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 157883063 G C PTPRN2 CCDS5949.1 r.? - - intronic 44 0 0 41 8 19.5 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.809377132 0.809377132 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 157900067 C T PTPRN2 CCDS5949.1 r.? - - intronic 19 0 0 33 7 21.2 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.879938215 0.879938215 1 1.318485523 1.318485523 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 157944723 G A PTPRN2 CCDS5949.1 r.? - - intronic 24 0 0 41 8 19.5 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.809377132 0.809377132 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 158319813 G A PTPRN2 CCDS5949.1 r.? - - intronic 36 0 0 30 5 16.7 23 3 13 1 0 0 1 1 100 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.693158877 0.693158877 1 0.579064588 0.579064588 1 4.150651958 4.150651958 1 NA NA 1 5 NA 1 1 0.000000401 0.005 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 158339309 G T PTPRN2 CCDS5949.1 r.? - - intronic 32 0 0 37 5 13.5 19 1 5.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.560338014 0.560338014 1 0.236080178 0.236080178 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000119 1 0.090843738 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 158640524 A G - - - - - - 25 0 0 40 8 20 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.830130392 0.830130392 1 1.162583519 1.162583519 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 159024525 A T - - - - - - 27 0 0 35 5 14.3 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.59354323 0.59354323 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 159043040 A C - - - - - - 28 0 0 43 12 27.9 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 1.158031896 1.158031896 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 32080 A G - - - - - - 12 0 0 13 4 30.8 6 2 33.3 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 0.000000431 1 0.000370028 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 1614201 G A DLGAP2 CCDS47760.1 r.? - - intronic 33 0 0 38 9 23.7 29 12 41.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.679827853 0.679827853 1 1.430097996 1.430097996 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 1.17E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 2116609 G A - - - - - - 38 0 0 31 9 29 23 9 39.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 1.350648107 1.350648107 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 1.5E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 2173818 A T - - - - - - 30 0 0 24 9 37.5 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 2674485 G C - - - - - - 49 0 0 36 13 36.1 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.035518375 1.035518375 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.53E-21 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 2782290 T C - - - - - - 35 0 0 29 5 17.2 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.493377176 0.493377176 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000336 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 2850520 G T CSMD1 ENST00000318252 r.? - - intronic 28 0 0 40 12 30 21 4 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 0.656325167 0.656325167 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 3215749 C A CSMD1 ENST00000318252 r.? - - intronic 33 0 0 36 11 30.6 17 5 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.877752418 0.877752418 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 1.84E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 3243167 C A CSMD1 ENST00000318252 r.? - - intronic 37 0 0 24 5 20.8 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.596642166 0.596642166 1 1.184839644 1.184839644 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 3716625 C G - - - - - - 35 0 0 28 12 42.9 35 17 48.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 1.67881069 1.67881069 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 3.18E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 4052662 T A - - - - - - 31 0 0 46 21 45.7 30 12 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.310891683 1.310891683 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 2.94E-36 1 1.94E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 4207627 C A - - - - - - 37 0 0 29 6 20.7 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.593773694 0.593773694 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 4542127 C A - - - - - - 32 0 0 37 15 40.5 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.161731141 1.161731141 1 0.618327394 0.618327394 1 NA NA 1 NA NA 1 5 NA 1 1 2.58E-25 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 4671892 C T - - - - - - 26 0 0 24 7 29.2 17 5 29.4 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 1.84E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 5362586 G T - - - - - - 41 0 0 29 13 44.8 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.285075435 1.285075435 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 7.69E-23 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 5412566 T C - - - - - - 24 0 0 30 10 33.3 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.267743875 1.267743875 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 6069743 A T - - - - - - 25 0 0 34 13 38.2 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.095756286 1.095756286 1 0.511242762 0.511242762 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 6083990 G A - - - - - - 27 0 0 29 10 34.5 18 5 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 6205447 C A - - - - - - 25 0 0 22 6 27.3 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.783092843 0.783092843 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-09 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 7055287 A G - - - - - - 36 0 0 20 9 45 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.290812379 1.290812379 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 3.12E-16 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 7180465 T G FAM66E ENST00000446726 r.? - - downstream 30 0 0 33 10 30.3 18 8 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 1.533728285 1.533728285 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 1.63E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 7193458 C T USP17L1P ENST00000382655 r.? - - downstream 18 0 0 20 8 40 18 3 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.576875278 0.576875278 1 NA NA 1 NA NA 1 5 NA 1 1 4.66E-14 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 8267770 A T - - - - - - 38 0 0 32 11 34.4 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.986754352 0.986754352 1 0.887766147 0.887766147 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 8546487 G C - - - - - - 36 0 0 30 8 26.7 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 8826450 G A - - - - - - 35 0 0 22 10 45.5 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 5.98E-18 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 9106512 G A - - - - - - 28 0 0 31 9 29 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 9234107 G T - - - - - - 26 0 0 29 17 58.6 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.680924565 1.680924565 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 3.74E-32 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 9264823 C A - - - - - - 33 0 0 33 15 45.5 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 0.974124722 0.974124722 1 NA NA 1 NA NA 1 5 NA 1 1 2.91E-26 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 9537147 G T TNKS CCDS5974.1 r.? - - intronic 26 0 0 26 5 19.2 21 2 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.550746615 0.550746615 1 0.328162584 0.328162584 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000188 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 9559731 A G TNKS CCDS5974.1 r.? - - intronic 31 0 0 18 4 22.2 28 2 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.636800774 0.636800774 1 0.245258352 0.245258352 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000181 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 9875426 T C - - - - - - 31 0 0 28 12 42.9 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 10247695 C A MSRA CCDS47799.1 r.? - - intronic 32 0 0 27 11 40.7 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 11074228 C T - - - - - - 28 0 0 30 6 20 27 1 3.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0.12781069 0.12781069 1 NA NA 1 NA NA 1 3 NA 1 1 8.37E-09 1 0.126579904 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 11111517 T A ENSG00000236827 ENST00000443854 r.? - - intronic 22 0 0 26 9 34.6 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 11151873 G T MTMR9 CCDS5979.1 r.? - - intronic 46 0 0 22 10 45.5 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 5.98E-18 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 11185063 G T MTMR9 CCDS5979.1 r.6830g>u c.? p.? 3'UTR variant 43 0 0 28 10 35.7 40 15 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 1.09E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 11613432 A T GATA4 CCDS5983.1 r.? - - intronic 38 0 0 34 12 35.3 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.0125706 1.0125706 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 13306746 G A DLC1 CCDS5989.1 r.? - - intronic 28 0 0 22 10 45.5 46 13 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 0.977579065 0.977579065 1 NA NA 1 NA NA 1 5 NA 1 1 5.98E-18 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 13314817 A C DLC1 CCDS5989.1 r.? - - intronic 41 0 0 34 15 44.1 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.264996132 1.264996132 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-26 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 13322972 T A DLC1 CCDS5989.1 r.? - - intronic 26 0 0 22 9 40.9 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.173205029 1.173205029 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 9.16E-16 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 13579928 G A - - - - - - 28 0 0 30 14 46.7 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.339576402 1.339576402 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 8.24E-25 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 13595764 G T - - - - - - 31 0 0 36 11 30.6 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.877752418 0.877752418 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 14052176 A G SGCZ CCDS5992.2 r.? - - intronic 42 0 0 28 12 42.9 41 13 31.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 1.095026726 1.095026726 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 1.89E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 14056007 A T SGCZ CCDS5992.2 r.? - - intronic 35 0 0 16 9 56.2 22 3 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.612081238 1.612081238 1 0.469790646 0.469790646 1 NA NA 1 NA NA 1 5 NA 1 1 2.16E-17 1 0.000179267 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 14111364 A T SGCZ CCDS5992.2 r.? - - intronic 28 0 0 31 13 41.9 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 14593741 T G SGCZ CCDS5992.2 r.? - - intronic 38 0 0 38 8 21.1 21 7 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.605247582 0.605247582 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 8.54E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 14636664 G T SGCZ CCDS5992.2 r.? - - intronic 30 0 0 33 10 30.3 21 4 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 0.656325167 0.656325167 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 14776164 G C SGCZ CCDS5992.2 r.? - - intronic 37 0 0 34 15 44.1 25 12 48 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.264996132 1.264996132 1 1.658084633 1.658084633 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-26 1 1.2E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 15111451 C T - - - - - - 38 0 0 19 6 31.6 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.906437137 0.906437137 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 4.01E-10 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 15334502 A G - - - - - - 37 0 0 22 8 36.4 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-13 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 15754353 C A - - - - - - 35 0 0 31 8 25.8 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.740065764 0.740065764 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 16760203 G A - - - - - - 38 0 0 30 12 40 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.949944321 0.949944321 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-20 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 16809746 G C AC079193.1 ENST00000513892 r.? - - intronic 48 0 0 36 12 33.3 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 16971972 G C EFHA2 CCDS5999.1 r.? - - intronic 30 0 0 28 12 42.9 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 1.336830735 1.336830735 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 17730639 C A FGL1 CCDS6004.1 r.? - - intronic 24 0 0 32 8 25 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 18957573 C A - - - - - - 32 0 0 29 9 31 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 1.212474388 1.212474388 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 20460532 G T - - - - - - 32 0 0 40 14 35 30 14 46.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.003965184 1.003965184 1 1.613178174 1.613178174 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-22 1 8.24E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 20700149 C T - - - - - - 33 0 0 20 7 35 16 6 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.003965184 1.003965184 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-12 1 1.2E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 21046421 C A - - - - - - 29 0 0 25 11 44 35 3 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.26212766 1.26212766 1 0.297073497 0.297073497 1 NA NA 1 NA NA 1 5 NA 1 1 2.04E-19 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 23178650 T G LOXL2 CCDS34864.1 r.? - - intronic 43 0 0 33 12 36.4 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 23415165 G A SLC25A37 CCDS47828.1 r.? - - intronic 30 0 0 21 10 47.6 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.36539265 1.36539265 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.28E-18 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 23441088 C G - - - - - - 40 0 0 28 11 39.3 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.127309478 1.127309478 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 9.7E-19 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 23547274 T G - - - - - - 31 0 0 36 12 33.3 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 23601330 C G - - - - - - 40 0 0 35 15 42.9 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 9.02E-26 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 23640638 T G - - - - - - 32 0 0 27 5 18.5 33 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.530667311 0.530667311 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000023 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 23868792 C G - - - - - - 30 0 0 27 8 29.6 25 9 36 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 1.243563474 1.243563474 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 3.71E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 24102446 T A - - - - - - 32 0 0 34 4 11.8 32 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.338479691 0.338479691 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000257 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 24218693 A T - - - - - - 39 0 0 30 8 26.7 22 4 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 0.00000425 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 24426183 A G - - - - - - 45 0 0 27 7 25.9 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.742934236 0.742934236 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 6.36E-11 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 24572832 G C - - - - - - 41 0 0 24 10 41.7 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 1.8E-17 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 24618642 A T - - - - - - 34 0 0 30 11 36.7 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 1.008668151 1.008668151 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 24785438 C A - - - - - - 37 0 0 19 5 26.3 18 6 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.754408124 0.754408124 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.43E-08 1 2.75E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 24887780 T G - - - - - - 31 0 0 25 7 28 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 25207885 A T DOCK5 CCDS6047.1 r.? - - intronic 35 0 0 20 5 25 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 4.55E-08 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 25442232 G C - - - - - - 40 0 0 32 12 37.5 24 7 29.2 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.008668151 1.008668151 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 25490045 G T - - - - - - 38 0 0 23 6 26.1 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.74867118 0.74867118 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-09 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 25763709 T A EBF2 CCDS43726.1 r.? - - intronic 38 0 0 30 11 36.7 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 26729613 T A - - - - - - 35 0 0 30 9 30 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 28193547 G C PNOC CCDS6066.1 r.? - - intronic 23 0 0 33 12 36.4 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 28219801 T A ZNF395 CCDS6067.1 r.? - - intronic 29 0 0 20 5 25 17 4 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 4.55E-08 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 28910028 T A HMBOX1 CCDS6071.1 r.3021u>a c.? p.? 3'UTR variant 23 0 0 23 8 34.8 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.99822824 0.99822824 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-13 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 29152908 A T - - - - - - 30 0 0 26 11 42.3 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 29394033 A T - - - - - - 43 0 0 25 10 40 19 3 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.545786192 0.545786192 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 29425940 G C - - - - - - 30 0 0 20 11 55 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.577659574 1.577659574 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 7.87E-21 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 29702004 T A - - - - - - 38 1 2.6 35 16 45.7 43 13 30.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.310891683 1.310891683 1 1.043211581 1.043211581 1 NA NA 1 NA NA 1 5 NA 0.173434892 1 5.66E-28 1 3.88E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 29766595 T C - - - - - - 33 0 0 27 11 40.7 34 18 52.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 1.827347439 1.827347439 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 7.79E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 29767938 G C - - - - - - 33 0 0 23 6 26.1 30 4 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.74867118 0.74867118 1 0.459427617 0.459427617 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-09 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 30336918 G C RBPMS CCDS6077.1 r.? - - intronic 32 0 0 31 14 45.2 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.296549323 1.296549323 1 1.181385301 1.181385301 1 NA NA 1 NA NA 1 5 NA 1 1 1.49E-24 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 31159237 C A - - - - - - 26 0 0 34 10 29.4 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.843330754 0.843330754 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 31800094 A T NRG1 CCDS47836.1 r.? - - intronic 34 0 0 32 14 43.8 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.256390716 1.256390716 1 1.001759465 1.001759465 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 31941563 A G NRG1 CCDS47836.1 r.? - - intronic 45 0 0 25 8 32 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 32066597 A T NRG1 CCDS47836.1 r.? - - intronic 38 0 0 35 11 31.4 33 14 42.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.900700193 0.900700193 1 1.464641425 1.464641425 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 4.57E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 32210781 A T NRG1 CCDS47836.1 r.? - - intronic 42 0 0 29 6 20.7 20 4 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.593773694 0.593773694 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 32285443 G C NRG1 CCDS47836.1 r.? - - intronic 43 0 0 36 14 38.9 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.11583559 1.11583559 1 0.839405345 0.839405345 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 32292106 G T NRG1 CCDS47836.1 r.? - - intronic 40 0 0 37 10 27 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.774487427 0.774487427 1 0.53196882 0.53196882 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 32363102 T C NRG1 CCDS47836.1 r.? - - intronic 28 0 0 34 11 32.4 20 6 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 5.7E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 32612576 A G NRG1 CCDS6086.1 r.? - - intronic 38 0 0 29 6 20.7 24 10 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.593773694 0.593773694 1 1.440461024 1.440461024 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 1.8E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 32652099 A T - - - - - - 35 0 0 28 15 53.6 16 6 37.5 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.537500967 1.537500967 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 1.07E-27 1 1.2E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 32757528 G A - - - - - - 36 0 0 25 7 28 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 1.188293987 1.188293987 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 33014391 C T - - - - - - 36 0 0 39 14 35.9 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.029781431 1.029781431 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 33442200 C T - - - - - - 28 0 0 26 7 26.9 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.771618956 0.771618956 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 33584016 T A - - - - - - 35 0 0 34 5 14.7 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.421665377 0.421665377 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 34065981 T G - - - - - - 48 0 0 33 10 30.3 42 16 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 1.316104677 1.316104677 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 2.25E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 34121282 G T - - - - - - 32 0 0 31 13 41.9 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 34274347 C G - - - - - - 31 0 0 36 7 19.4 30 12 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.556483559 0.556483559 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 1.94E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 34386269 C A - - - - - - 38 0 0 26 9 34.6 2 1 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.727171492 1.727171492 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 0.009975 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 34724629 G T - - - - - - 36 0 0 31 7 22.6 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.648274662 0.648274662 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 35050793 G C - - - - - - 22 0 0 24 5 20.8 38 14 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.596642166 0.596642166 1 1.271198218 1.271198218 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 36102323 T A - - - - - - 36 0 0 27 9 33.3 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.008668151 1.008668151 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 36113851 T C - - - - - - 36 0 0 34 14 41.2 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.181810445 1.181810445 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 5 NA 1 1 7.74E-24 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 36224375 G A - - - - - - 28 0 0 39 14 35.9 26 11 42.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.029781431 1.029781431 1 1.461187082 1.461187082 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 3.52E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 36441210 G A - - - - - - 25 0 0 31 12 38.7 24 12 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.110098646 1.110098646 1 1.727171492 1.727171492 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 6.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 36558478 G A - - - - - - 36 0 0 44 16 36.4 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 5.57E-26 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 36704028 A C KCNU1 ENST00000399881 r.? - - intronic 40 0 0 21 11 52.4 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.503079304 1.503079304 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-20 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 36831735 T C - - - - - - 33 0 0 34 11 32.4 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 36872505 C T - - - - - - 42 0 0 38 14 36.8 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.055597679 1.055597679 1 1.184839644 1.184839644 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 37059816 G A - - - - - - 32 0 0 32 7 21.9 26 11 42.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.628195358 0.628195358 1 1.461187082 1.461187082 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 3.52E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 37839866 G T - - - - - - 30 0 0 42 8 19 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.545009671 0.545009671 1 0.639053452 0.639053452 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 39652048 G A ADAM2 CCDS34884.1 r.? - - intronic 35 0 0 43 12 27.9 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.800303675 0.800303675 1 0.53196882 0.53196882 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 40075025 C A - - - - - - 32 0 0 31 9 29 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 1.091572383 1.091572383 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 40467678 G T ZMAT4 CCDS34885.1 r.? - - intronic 45 0 0 25 13 52 29 11 37.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.491605416 1.491605416 1 1.309195991 1.309195991 1 NA NA 1 NA NA 1 5 NA 1 1 6E-24 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 40576691 T A ZMAT4 CCDS34885.1 r.? - - intronic 24 0 0 31 9 29 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 40789487 A C - - - - - - 27 0 0 38 11 28.9 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.828988395 0.828988395 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 41517264 A C ANK1 CCDS47849.1 r.? - - intronic 16 0 0 15 6 40 7 2 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 7.52E-11 1 0.000516315 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 42775774 G T HOOK3 CCDS6139.1 r.? - - intronic 26 0 0 43 9 20.9 45 15 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.97727912 0.97727912 1 1.816296214 0.908148107 2 NA NA 0 NA NA 1 5 NA 1 1 9.45E-13 1 9.14E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 42776343 G C HOOK3 CCDS6139.1 r.? - - intronic 20 0 0 36 10 27.8 53 15 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.299921509 1.299921509 1 1.543579065 0.771789532 2 NA NA 0 NA NA 1 5 NA 1 1 2.21E-15 1 1.6E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 42870195 C A HOOK3 CCDS6139.1 r.? - - intronic 22 0 0 28 6 21.4 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.000659004 1.000659004 1 1.816296214 0.908148107 2 NA NA 0 NA NA 1 5 NA 1 1 5.36E-09 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 42874026 G C HOOK3 CCDS6139.1 r.2784g>c c.? p.? 3'UTR variant 36 0 0 55 8 14.5 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.678016615 0.678016615 1 0.779971047 0.779971047 1 NA NA 0 NA NA 1 5 NA 1 1 3.86E-10 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 43061765 G A HGSNAT CCDS47852.1 r.? - - downstream 35 0 0 48 6 12.5 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.584497082 0.584497082 1 1.489035635 1.489035635 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000016 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 43339663 A C - - - - - - 34 0 0 55 12 21.8 45 3 6.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.01936291 1.01936291 1 0.36544098 0.36544098 1 NA NA 0 NA NA 1 5 NA 1 1 8.78E-17 1 0.001516071 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 43368912 T C - - - - - - 34 0 0 47 16 34 48 6 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.589832062 0.879572851 1.807504699 0.681792873 0.681792873 1 NA NA 0 NA NA 1 5 NA 1 1 1.98E-25 1 0.00000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 43529433 G C - - - - - - 35 0 0 43 10 23.3 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.08950256 1.08950256 1 1.363585746 1.363585746 1 NA NA 0 NA NA 1 5 NA 1 1 1.61E-14 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 43581050 C G - - - - - - 29 0 0 26 4 15.4 54 11 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.720100405 0.720100405 1 1.112685969 1.112685969 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000856 1 3.84E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 43739436 C T - - - - - - 45 0 0 49 8 16.3 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.762184194 0.762184194 1 1.281770601 1.281770601 1 NA NA 0 NA NA 1 5 NA 1 1 1.47E-10 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 47608804 T A - - - - - - 37 0 0 47 7 14.9 51 10 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.696720521 0.696720521 1 1.069051225 1.069051225 1 NA NA 0 NA NA 1 5 NA 1 1 4.12E-09 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 47649095 G T - - - - - - 34 0 0 59 13 22 45 4 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.028714864 1.028714864 1 0.485436526 0.485436526 1 NA NA 0 NA NA 1 5 NA 1 1 3.99E-18 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 47861535 A T - - - - - - 35 0 0 50 13 26 57 13 22.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.21575393 1.21575393 1 1.2435902 1.2435902 1 NA NA 0 NA NA 1 5 NA 1 1 3.65E-19 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 48747095 G A PRKDC ENST00000314191 r.? - - intronic 21 0 0 52 11 21.2 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.99130705 0.99130705 1 0.763608018 0.763608018 1 NA NA 0 NA NA 1 5 NA 1 1 2.44E-15 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 48774654 T A PRKDC ENST00000314191 r.6008a>u c.5951A>T p.K1984M missense 45 0 0 64 13 20.3 54 13 24.1 101 0 0 75 7 9.3 31 14 45.2 TRUE TRUE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.94922326 0.94922326 1 1.314496659 1.314496659 1 0.434865829 0.5385304 0.807504699 2.465363029 1.232681514 2 5 4 1 1 1.26E-17 0.000000115 1.12E-18 1.49E-24 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 8 49049951 T C - - - - - - 25 0 0 51 22 43.1 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 2.015345937 1.114987938 1.807504699 1.619939866 1.619939866 1 NA NA 0 NA NA 1 5 NA 1 1 3.24E-37 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 49222028 G T - - - - - - 29 0 0 45 9 20 55 8 14.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.935195331 0.935195331 1 0.790879733 0.790879733 1 NA NA 0 NA NA 1 5 NA 1 1 1.47E-12 1 3.86E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 49382918 C T - - - - - - 29 0 0 53 12 22.6 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.056770724 1.056770724 1 1.309042316 1.309042316 1 NA NA 0 NA NA 1 5 NA 1 1 5.39E-17 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 49413412 G C - - - - - - 31 0 0 46 7 15.2 47 5 10.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.710748451 0.710748451 1 0.578160356 0.578160356 1 NA NA 0 NA NA 1 5 NA 1 1 3.53E-09 1 0.00000402 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 49774226 C G - - - - - - 19 0 0 52 14 26.9 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.25783772 1.25783772 1 0.93269265 0.93269265 1 NA NA 0 NA NA 1 5 NA 1 1 9.04E-21 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 49905383 G A - - - - - - 30 0 0 43 8 18.6 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.869731657 0.869731657 1 1.396311804 1.396311804 1 NA NA 0 NA NA 1 5 NA 1 1 4.85E-11 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 49914101 C A - - - - - - 31 0 0 25 6 24 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.122234397 1.122234397 1 0.736336303 0.736336303 1 NA NA 0 NA NA 1 5 NA 1 1 2.55E-09 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 49963282 T A - - - - - - 43 0 0 45 8 17.8 48 7 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.832323844 0.832323844 1 0.796334076 0.796334076 1 NA NA 0 NA NA 1 5 NA 1 1 7.14E-11 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 50063950 C G - - - - - - 39 0 0 43 12 27.9 49 23 46.9 169 0 0 111 43 38.7 73 43 58.9 TRUE TRUE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.304597486 1.304597486 1 2.55808686 1.27904343 2 1.809602965 1.001160863 1.807504699 3.212608018 1.606304009 2 5 4 1 1 3.24E-18 9.59E-69 6.14E-40 2.74E-79 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 8 50064069 T G - - - - - - 32 0 0 41 9 22 41 11 26.8 111 0 0 62 16 25.8 39 0 0 TRUE TRUE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.028714864 1.028714864 1 1.46176392 1.46176392 1 1.206401976 1.206401976 1 0 0 1 5 5 1 1 5.92E-13 3.36E-23 1.34E-16 1 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9776b 8 50109362 T G - - - - - - 35 0 0 45 8 17.8 38 4 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.832323844 0.832323844 1 0.572706013 0.572706013 1 NA NA 0 NA NA 1 5 NA 1 1 7.14E-11 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 50166193 A C - - - - - - 19 0 0 36 4 11.1 45 12 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.519033408 0.519033408 1 1.456309577 1.456309577 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000324 1 6.03E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 50311660 C T - - - - - - 24 0 0 50 10 20 52 12 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.935195331 0.935195331 1 1.259953229 1.259953229 1 NA NA 0 NA NA 1 5 NA 1 1 8.36E-14 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 50412069 T G - - - - - - 39 0 0 42 5 11.9 49 7 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.556441222 0.556441222 1 0.779971047 0.779971047 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000228 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 50412437 G T - - - - - - 37 0 0 60 12 20 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.935195331 0.935195331 1 0.959964365 0.959964365 1 NA NA 0 NA NA 1 5 NA 1 1 2.74E-16 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 50912623 A T - - - - - - 35 0 0 48 11 22.9 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.070798653 1.070798653 1 0.910875278 0.910875278 1 NA NA 0 NA NA 1 5 NA 1 1 9.31E-16 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 50954318 T A - - - - - - 37 0 0 51 11 21.6 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.010010957 1.010010957 1 1.036325167 1.036325167 1 NA NA 0 NA NA 1 5 NA 1 1 1.94E-15 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 51309640 G C SNTG1 CCDS6147.1 r.? - - intronic 38 0 0 44 8 18.2 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.851027751 0.851027751 1 1.090868597 1.090868597 1 NA NA 0 NA NA 1 5 NA 1 1 5.9E-11 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 51500209 A T SNTG1 CCDS6147.1 r.? - - intronic 34 0 0 38 14 36.8 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.720759408 0.952008263 1.807504699 0.758153675 0.758153675 1 NA NA 0 NA NA 1 5 NA 1 1 5.28E-23 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 51696356 C T SNTG1 CCDS6147.1 r.? - - intronic 27 0 0 45 10 22.2 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.038066817 1.038066817 1 0.850877506 0.850877506 1 NA NA 0 NA NA 1 5 NA 1 1 2.66E-14 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 51707713 G A SNTG1 CCDS6147.1 r.? - - downstream 44 0 0 43 14 32.6 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.524368389 1.524368389 1 0.981781737 0.981781737 1 NA NA 0 NA NA 1 5 NA 1 1 4.18E-22 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 51740641 C A - - - - - - 33 0 0 52 12 23.1 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.080150607 1.080150607 1 1.396311804 1.396311804 1 NA NA 0 NA NA 1 5 NA 1 1 4.19E-17 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 51917008 T A - - - - - - 44 0 0 52 11 21.2 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.99130705 0.99130705 1 0.992690423 0.992690423 1 NA NA 0 NA NA 1 5 NA 1 1 2.44E-15 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 51942862 G C - - - - - - 37 0 0 46 13 28.3 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.323301393 1.323301393 1 0.698155902 0.698155902 1 NA NA 0 NA NA 1 5 NA 1 1 1.07E-19 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 51946954 G A - - - - - - 36 0 0 48 14 29.2 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.365385183 1.365385183 1 1.090868597 1.090868597 1 NA NA 0 NA NA 1 5 NA 1 1 2.51E-21 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 52104640 A T - - - - - - 32 0 0 53 8 15.1 50 12 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.706072475 0.706072475 1 1.309042316 1.309042316 1 NA NA 0 NA NA 1 5 NA 1 1 2.83E-10 1 2.49E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 52117542 G A - - - - - - 50 0 0 62 7 11.3 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.528385362 0.654343389 0.807504699 1.363585746 1.363585746 1 NA NA 0 NA NA 1 5 NA 1 1 3.02E-08 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 52216979 A C - - - - - - 33 0 0 35 12 34.3 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.603859992 0.887333788 1.807504699 1.030870824 1.030870824 1 NA NA 0 NA NA 1 5 NA 1 1 1.83E-19 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 52309004 G C PXDNL CCDS47855.1 r.? - - intronic 36 0 0 45 8 17.8 51 10 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.832323844 0.832323844 1 1.069051225 1.069051225 1 NA NA 0 NA NA 1 5 NA 1 1 7.14E-11 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 52394140 G C PXDNL CCDS47855.1 r.? - - intronic 44 0 0 51 12 23.5 49 9 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.098854513 1.098854513 1 1.003599109 1.003599109 1 NA NA 0 NA NA 1 5 NA 1 1 3.24E-17 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 52772135 G A PCMTD1 CCDS6148.1 r.? - - intronic 26 0 0 55 17 30.9 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.444876786 1.444876786 1 1.210864143 1.210864143 1 NA NA 0 NA NA 1 5 NA 1 1 4.35E-26 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 53055661 A T ST18 CCDS6149.1 r.? - - intronic 40 0 0 57 11 19.3 44 5 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.902463494 0.902463494 1 0.6217951 0.6217951 1 NA NA 0 NA NA 1 5 NA 1 1 7.29E-15 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 53084988 C A ST18 CCDS6149.1 r.1253g>u c.433G>T p.V145L missense 39 0 0 50 7 14 48 7 14.6 161 0 0 88 13 14.8 16 4 25 TRUE TRUE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.654636731 0.654636731 1 0.796334076 0.796334076 1 0.692044545 0.692044545 1 1.363585746 1.363585746 1 5 4 1 1 6.46E-09 1.03E-15 4.81E-09 0.00000108 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 53102464 C T ST18 CCDS6149.1 r.? - - intronic 36 0 0 61 21 34.4 49 19 38.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.608535969 0.889920767 1.807504699 2.116285078 1.058142539 2 NA NA 0 NA NA 1 5 NA 1 1 4.8E-33 1 3.12E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 53177864 G C ST18 CCDS6149.1 r.? - - intronic 35 0 0 58 12 20.7 50 6 12 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.967927167 0.967927167 1 0.654521158 0.654521158 1 NA NA 0 NA NA 1 5 NA 1 1 1.76E-16 1 0.000000206 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 53283980 C T ST18 CCDS6149.1 r.? - - intronic 42 0 0 47 7 14.9 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.696720521 0.696720521 1 1.46176392 1.46176392 1 NA NA 0 NA NA 1 5 NA 1 1 4.12E-09 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 53332283 C T - - - - - - 31 0 0 53 12 22.6 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.056770724 1.056770724 1 1.04177951 1.04177951 1 NA NA 0 NA NA 1 5 NA 1 1 5.39E-17 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 53719014 A T - - - - - - 27 0 0 47 13 27.7 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.295245533 1.295245533 1 1.816296214 0.908148107 2 NA NA 0 NA NA 1 5 NA 1 1 1.47E-19 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 53989236 G C - - - - - - 24 0 0 48 9 18.8 47 7 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.879083611 0.879083611 1 0.812697105 0.812697105 1 NA NA 0 NA NA 1 5 NA 1 1 2.75E-12 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 54007834 C A - - - - - - 39 0 0 42 9 21.4 49 7 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.000659004 1.000659004 1 0.779971047 0.779971047 1 NA NA 0 NA NA 1 5 NA 1 1 7.51E-13 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 54032384 T G - - - - - - 34 0 0 47 7 14.9 53 8 15.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.696720521 0.696720521 1 0.823605791 0.823605791 1 NA NA 0 NA NA 1 5 NA 1 1 4.12E-09 1 2.83E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 54041888 C G - - - - - - 32 0 0 47 14 29.8 52 11 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.393441043 1.393441043 1 1.156320713 1.156320713 1 NA NA 0 NA NA 1 5 NA 1 1 1.79E-21 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 54154629 T C OPRK1 CCDS6152.1 r.? - - intronic 29 0 0 51 12 23.5 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.098854513 1.098854513 1 1.29813363 1.29813363 1 NA NA 0 NA NA 1 5 NA 1 1 3.24E-17 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 54337991 C T - - - - - - 30 0 0 34 7 20.6 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.96325119 0.96325119 1 1.232681514 1.232681514 1 NA NA 0 NA NA 1 5 NA 1 1 3.73E-10 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 54486357 G T - - - - - - 33 0 0 41 11 26.8 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.253161743 1.253161743 1 0.698155902 0.698155902 1 NA NA 0 NA NA 1 5 NA 1 1 1.34E-16 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 54771857 T G RGS20 CCDS6155.1 r.? - 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- downstream 24 0 0 58 5 8.6 60 8 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.481248406 0.661564627 0.72743975 0.887455063 0.887455063 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000115 1 7.93E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 81976788 T C PAG1 CCDS6227.1 r.? - - intronic 36 0 0 53 26 49.1 39 16 41 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 2.747592646 1.373796323 2 2.735763728 1.233297379 2.218251474 NA NA 0 NA NA 1 5 NA 1 1 1.27E-45 1 5.16E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 82055513 G T - - - - - - 30 0 0 56 16 28.6 48 17 35.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.600430747 0.800215374 2 2.362098438 1.064847005 2.218251474 NA NA 0 NA NA 1 5 NA 1 1 5.26E-24 1 2.8E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 82124465 G C - - - - - - 38 0 0 79 18 22.8 59 13 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.275867868 1.275867868 1 1.467970781 1.467970781 1 NA NA 0 NA NA 1 5 NA 1 1 7.86E-25 1 3.99E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 82192649 G C FABP5 CCDS6228.1 r.52g>c c.? p.? 5'UTR variant 26 0 0 47 9 19.1 5 1 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.068819135 1.068819135 1 1.334518892 1.334518892 1 NA NA 0 NA NA 1 5 NA 1 1 2.24E-12 1 0.024751247 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 82270979 T G - - - - - - 48 0 0 57 18 31.6 57 22 38.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.768308098 0.884154049 2 2.575621461 1.161104361 2.218251474 NA NA 0 NA NA 1 5 NA 1 1 9.84E-28 1 7.03E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 82496109 C G - - - - - - 42 0 0 53 25 47.2 49 16 32.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 2.641270324 1.320635162 2 2.181938388 0.983629861 2.218251474 NA NA 0 NA NA 1 5 NA 1 1 2.35E-43 1 4.37E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 82766839 C G - - - - - - 30 0 0 59 6 10.2 65 13 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.570782994 0.570782994 1 1.334518892 1.334518892 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000561 1 1.57E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 82968975 T C - - - - - - 23 0 0 71 8 11.3 54 11 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.632338022 0.632338022 1 1.36120927 1.36120927 1 NA NA 0 NA NA 1 5 NA 1 1 3.14E-09 1 3.84E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 83052244 G T - - - - - - 35 0 0 61 11 18 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.007264107 1.007264107 1 2.041813904 1.020906952 2 NA NA 0 NA NA 1 5 NA 1 1 1.62E-14 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 83087615 C T - - - - - - 27 0 0 47 10 21.3 48 7 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.191929193 1.191929193 1 0.974198791 0.974198791 1 NA NA 0 NA NA 1 5 NA 1 1 4.27E-14 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 83174046 C T - - - - - - 36 0 0 61 10 16.4 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.917729519 0.917729519 1 1.514678942 1.514678942 1 NA NA 0 NA NA 1 5 NA 1 1 6.98E-13 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 83242742 T G - - - - - - 35 0 0 51 9 17.6 51 10 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.98488046 0.98488046 1 1.307828514 1.307828514 1 NA NA 0 NA NA 1 5 NA 1 1 4.92E-12 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 83283020 A G - - - - - - 31 0 0 49 12 24.5 44 11 25 2 0 0 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.370998367 1.370998367 1 1.668148615 0.834074307 2 NA NA 0 NA NA 1 5 NA 1 1 1.9E-17 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 83331535 A C - - - - - - 44 1 2.3 55 24 43.6 53 18 34 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 2.439817503 1.219908751 2 2.268682116 1.022734412 2.218251474 NA NA 0 NA NA 1 5 NA 0.197923942 1 1.28E-40 1 2.09E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 83442378 G T - - - - - - 22 0 0 25 8 32 54 7 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.790691745 1.790691745 1 0.86743728 0.86743728 1 NA NA 0 NA NA 1 5 NA 1 1 3.92E-13 1 1.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 83468972 G T - - - - - - 29 0 0 57 6 10.5 61 7 11.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.587570729 0.587570729 1 0.767348363 0.767348363 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000456 1 2.69E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 83509426 G A - - - - - - 24 0 0 60 13 21.7 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.21431284 1.21431284 1 1.161031436 1.161031436 1 NA NA 0 NA NA 1 5 NA 1 1 5.07E-18 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 83574153 G T - - - - - - 37 0 0 59 27 45.8 54 17 31.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 2.56292756 1.28146378 2 2.101867254 1.050933627 2 NA NA 0 NA NA 1 5 NA 1 1 3.09E-46 1 3.02E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 83890562 A C - - - - - - 42 0 0 52 11 21.2 51 7 13.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.186333281 1.186333281 1 0.914145441 0.914145441 1 NA NA 0 NA NA 1 5 NA 1 1 2.44E-15 1 7.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 83995824 C A - - - - - - 26 0 0 61 16 26.2 51 19 37.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.466128866 1.466128866 1 2.488877733 1.12199981 2.218251474 NA NA 0 NA NA 1 5 NA 1 1 2.5E-23 1 7.94E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 84094257 A G - - - - - - 38 0 0 68 21 30.9 55 15 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.729136716 0.864568358 2 1.821618287 0.910809144 2 NA NA 0 NA NA 1 5 NA 1 1 7.15E-32 1 3.01E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 84099744 T A - - - - - - 33 0 0 48 8 16.7 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.934517254 0.934517254 1 1.087632897 1.087632897 1 NA NA 0 NA NA 1 5 NA 1 1 1.23E-10 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 84503327 C T - - - - - - 35 0 0 48 6 12.5 38 4 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.699488963 0.699488963 1 0.700622418 0.700622418 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000016 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 84516419 T A - - - - - - 27 0 0 39 4 10.3 30 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.576378905 0.576378905 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000447 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 84562607 T A - - - - - - 39 0 0 54 7 13 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.727468521 0.727468521 1 1.114323275 1.114323275 1 NA NA 0 NA NA 1 5 NA 1 1 1.13E-08 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 84657371 C T - - - - - - 26 0 0 43 18 41.9 24 9 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 2.344687004 1.172343502 2 2.502222922 1.128015895 2.218251474 NA NA 0 NA NA 1 5 NA 1 1 2.06E-30 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 84791879 C T - - - - - - 46 0 0 66 22 33.3 60 17 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.863438597 0.931719299 2 1.888344232 0.944172116 2 NA NA 0 NA NA 1 5 NA 1 1 3.52E-34 1 2.41E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 84806695 A T - - - - - - 35 0 0 54 7 13 56 5 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.727468521 0.727468521 1 0.593860907 0.593860907 1 NA NA 0 NA NA 1 5 NA 1 1 1.13E-08 1 0.00000965 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 84861339 A T - - - - - - 40 0 0 67 9 13.4 40 3 7.5 0 0 NA 1 0 0 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.749852168 0.749852168 1 0.500444584 0.500444584 1 0 NA 0 NA NA 1 5 NA 1 1 6.43E-11 1 0.001075403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 85108791 T C - - - - - - 39 0 0 59 9 15.3 59 8 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.856174491 0.856174491 1 0.907472846 0.907472846 1 NA NA 0 NA NA 1 5 NA 1 1 1.96E-11 1 6.9E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 85198455 G A - - - - - - 28 0 0 56 25 44.6 65 31 47.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 2.49577662 1.24788831 2 3.182827557 1.434836219 2.218251474 NA NA 0 NA NA 1 5 NA 1 1 1.43E-42 1 1.34E-53 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 85220519 T A - - - - - - 31 0 0 55 8 14.5 46 3 6.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.811407197 0.811407197 1 0.43371864 0.43371864 1 NA NA 0 NA NA 1 5 NA 1 1 3.86E-10 1 0.001615827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 85237747 T A - - - - - - 43 0 0 60 11 18.3 57 23 40.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.024051842 1.024051842 1 2.695728161 1.215249124 2.218251474 NA NA 0 NA NA 1 5 NA 1 1 1.34E-14 1 5.38E-38 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 85291444 G A - - - - - - 26 0 0 51 18 35.3 61 21 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.975356831 0.987678416 2 2.295372494 1.034766581 2.218251474 NA NA 0 NA NA 1 5 NA 1 1 9.1E-29 1 4.8E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 85473976 A C - - - - - - 30 0 0 57 6 10.5 72 11 15.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.587570729 0.587570729 1 1.020906952 1.020906952 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000456 1 1.12E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 85547328 G C - - - - - - 33 0 0 58 8 13.8 47 4 8.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.772235815 0.772235815 1 0.567170529 0.567170529 1 NA NA 0 NA NA 1 5 NA 1 1 5.99E-10 1 0.0000939 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 85595556 G C - - - - - - 42 0 0 47 17 36.2 54 14 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 2.025720037 1.012860018 2 1.728201965 0.864100982 2 NA NA 0 NA NA 1 5 NA 1 1 1.81E-27 1 1.64E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 85657541 A G RALYL ENST00000399361 r.? - - intronic 38 0 0 56 19 33.9 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.897014067 0.948507034 2 1.754892343 0.877446171 2 NA NA 0 NA NA 1 5 NA 1 1 6.79E-30 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 85684901 A T RALYL ENST00000399361 r.? - - intronic 37 0 0 48 5 10.4 50 6 12 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.581974817 0.581974817 1 0.800711335 0.800711335 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000447 1 0.000000206 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 86059274 G A LRRCC1 CCDS43750.1 r.? - - downstream 50 0 0 69 7 10.1 55 7 12.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.565187082 0.565187082 1 0.847419496 0.847419496 1 NA NA 0 NA NA 1 5 NA 1 1 6.43E-08 1 1.28E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 86059450 G C LRRCC1 CCDS43750.1 r.? - - downstream 50 0 0 80 6 7.5 69 7 10.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.419693378 0.576945895 0.72743975 0.67393204 0.67393204 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000342 1 6.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 86086954 C G E2F5 CCDS47885.1 r.? - - upstream 26 0 0 65 13 20 72 16 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.119182341 1.119182341 1 1.48131597 1.48131597 1 NA NA 0 NA NA 1 5 NA 1 1 1.57E-17 1 4.82E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 86272880 G T - - - - - - 38 0 0 64 8 12.5 57 9 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.699488963 0.699488963 1 1.054269924 1.054269924 1 NA NA 0 NA NA 1 5 NA 1 1 1.35E-09 1 1.42E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 86428997 A T - - - - - - 38 0 0 74 5 6.8 56 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.380521996 0.523097612 0.72743975 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.0000378 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 86902546 T A - - - - - - 35 0 0 82 16 19.5 63 8 12.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.091202782 1.091202782 1 0.847419496 0.847419496 1 NA NA 0 NA NA 1 5 NA 1 1 4.67E-21 1 1.18E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 87105422 T C - - - - - - 39 0 0 65 10 15.4 87 13 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.861770402 0.861770402 1 0.994216574 0.994216574 1 NA NA 0 NA NA 1 5 NA 1 1 1.36E-12 1 8.85E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 87136211 C A ATP6V0D2 CCDS6241.1 r.? - - intronic 36 0 0 59 15 25.4 68 12 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.421361573 1.421361573 1 1.174376625 1.174376625 1 NA NA 0 NA NA 1 5 NA 1 1 9.9E-22 1 1.37E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 87232348 T A SLC7A13 CCDS34917.1 r.? - - intronic 22 0 0 53 20 37.7 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 2.109658712 1.054829356 2 1.134341058 1.134341058 1 NA NA 0 NA NA 1 5 NA 1 1 1.65E-32 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 87309111 C T - - - - - - 28 0 0 68 20 29.4 76 23 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 1.645198041 0.82259902 2 2.021796121 1.01089806 2 NA NA 0 NA NA 1 5 NA 1 1 6.23E-30 1 1.58E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 87311109 A T - - - - - - 39 0 0 64 10 15.6 62 6 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.872962226 0.872962226 1 0.647241662 0.647241662 1 NA NA 0 NA NA 1 5 NA 1 1 1.16E-12 1 0.000000756 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 87439901 G A WWP1 CCDS6242.1 r.1197g>a c.1187G>A p.R396K missense 35 0 0 77 12 15.6 49 5 10.2 214 0 0 170 30 17.6 206 12 5.8 TRUE TRUE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0.872962226 0.872962226 1 0.680604635 0.680604635 1 0.98488046 0.98488046 1 0.387010479 0.387010479 1 5 5 1 1 6.64E-15 9.6E-37 0.00000496 8.77E-10 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 8 87711337 C G CNGB3 CCDS6244.1 r.? - - intronic 34 0 0 38 6 15.8 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.703871727 0.703871727 1 1.292679287 1.292679287 1 NA NA 0 NA NA 1 5 NA 1 1 3.76E-08 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 87999177 T A - - - - - - 39 0 0 54 25 46.3 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 2.062611453 1.031305727 2 1.914474388 0.957237194 2 NA NA 0 NA NA 1 5 NA 1 1 4.36E-43 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 88250117 G T CNBD1 ENST00000319712 r.? - - intronic 32 0 0 41 21 51.2 50 18 36 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 2.280900786 0.881878231 2.586412395 1.963563474 0.981781737 2 NA NA 0 NA NA 1 5 NA 1 1 1.17E-37 1 5.92E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 88342606 T A CNBD1 ENST00000319712 r.? - - intronic 39 0 0 49 6 12.2 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.543495891 0.543495891 1 0.981781737 0.981781737 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000182 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 88438933 G A - - - - - - 27 0 0 59 9 15.3 47 7 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.681597305 0.681597305 1 0.812697105 0.812697105 1 NA NA 0 NA NA 1 5 NA 1 1 1.96E-11 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 88626409 A T - - - - - - 35 0 0 43 9 20.9 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.931070829 0.931070829 1 1.210864143 1.210864143 1 NA NA 0 NA NA 1 5 NA 1 1 9.45E-13 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 88687786 G A - - - - - - 40 0 0 51 12 23.5 55 8 14.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.046897822 1.046897822 1 0.790879733 0.790879733 1 NA NA 0 NA NA 1 5 NA 1 1 3.24E-17 1 3.86E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 88700662 T A - - - - - - 45 0 0 42 5 11.9 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.530131237 0.530131237 1 1.15086637 1.15086637 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000228 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 88933718 T A - - - - - - 31 0 0 41 9 22 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.980074557 0.980074557 1 0.927238307 0.927238307 1 NA NA 0 NA NA 1 5 NA 1 1 5.92E-13 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 88983223 A T - - - - - - 26 0 0 28 11 39.3 18 5 27.8 0 0 NA 1 1 100 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.750769549 1.103603045 1.586412395 1.51630735 1.51630735 1 4.454884348 4.454884348 1 NA NA 1 5 NA 1 1 9.7E-19 0.005 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 89002507 A T - - - - - - 45 0 0 45 6 13.3 37 1 2.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.592499618 0.592499618 1 0.147267261 0.147267261 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000108 1 0.169281299 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 89042059 C A - - - - - - 38 0 0 39 12 30.8 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.372104379 1.372104379 1 1.259953229 1.259953229 1 NA NA 0 NA NA 1 5 NA 1 1 8.43E-19 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 89051990 G C MMP16 CCDS6246.1 r.3805c>g c.? p.? 3'UTR variant 37 0 0 51 9 17.6 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.784059645 0.784059645 1 0.949055679 0.949055679 1 NA NA 0 NA NA 1 5 NA 1 1 4.92E-12 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 89267102 C T MMP16 CCDS6246.1 r.? - - intronic 27 0 0 45 7 15.6 54 10 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.694961958 0.694961958 1 1.009053452 1.009053452 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000003 1 1.91E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 89274681 A T MMP16 CCDS6246.1 r.? - - intronic 36 0 0 41 16 39 48 18 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.737404896 1.095178594 1.586412395 2.045378619 1.02268931 2 NA NA 0 NA NA 1 5 NA 1 1 1.4E-26 1 2.42E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 89500252 C G - - - - - - 33 0 0 64 11 17.2 58 12 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.766240108 0.766240108 1 1.129048998 1.129048998 1 NA NA 0 NA NA 1 5 NA 1 1 2.85E-14 1 1.76E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 89511031 T A - - - - - - 25 0 0 51 9 17.6 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.784059645 0.784059645 1 0.954510022 0.954510022 1 NA NA 0 NA NA 1 5 NA 1 1 4.92E-12 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 89535651 C G - - - - - - 32 0 0 33 15 45.5 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 2.026972379 1.013486189 2 1.401766147 1.401766147 1 NA NA 0 NA NA 1 5 NA 1 1 2.91E-26 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 89715224 G A - - - - - - 23 0 0 38 13 34.2 39 13 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.523570447 1.523570447 1 1.816296214 0.908148107 2 NA NA 0 NA NA 1 5 NA 1 1 5.88E-21 1 8.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 89739908 G T - - - - - - 23 0 0 52 11 21.2 55 7 12.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.944435482 0.944435482 1 0.692701559 0.692701559 1 NA NA 0 NA NA 1 5 NA 1 1 2.44E-15 1 1.28E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 89740281 A T - - - - - - 27 0 0 45 22 48.9 44 13 29.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 2.178438446 1.089219223 2 1.60903118 0.80451559 2 NA NA 0 NA NA 1 5 NA 1 1 8.79E-39 1 5.49E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 89770245 C A - - - - - - 31 0 0 42 8 19 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.846428026 0.846428026 1 0.93269265 0.93269265 1 NA NA 0 NA NA 1 5 NA 1 1 3.96E-11 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 90004334 T G - - - - - - 31 0 0 59 15 25.4 52 7 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.131540624 1.131540624 1 0.736336303 0.736336303 1 NA NA 0 NA NA 1 5 NA 1 1 9.9E-22 1 8.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 90018223 G A - - - - - - 38 0 0 39 17 43.6 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.942329576 0.971164788 2 1.363585746 1.363585746 1 NA NA 0 NA NA 1 5 NA 1 1 3.51E-29 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 90047145 A C - - - - - - 35 0 0 51 9 17.6 50 11 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.784059645 0.784059645 1 1.199955457 1.199955457 1 NA NA 0 NA NA 1 5 NA 1 1 4.92E-12 1 1.52E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 90076918 G T - - - - - - 23 0 0 56 14 25 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.113721087 1.113721087 1 0.981781737 0.981781737 1 NA NA 0 NA NA 1 5 NA 1 1 2.91E-20 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 90195012 C T - - - - - - 26 0 0 55 9 16.4 47 6 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.730601033 0.730601033 1 0.698155902 0.698155902 1 NA NA 0 NA NA 1 5 NA 1 1 1.01E-11 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 90775062 G C RIPK2 CCDS6247.1 r.493g>c c.179G>C p.R60T missense 47 0 0 59 6 10.2 38 7 18.4 81 0 0 56 9 16.1 74 9 12.2 TRUE TRUE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.454398204 0.774878238 0.586412395 1.003599109 1.003599109 1 0.71723638 0.71723638 1 0.665429844 0.665429844 1 5 6 1 1 0.000000561 1.2E-11 8.61E-10 1.61E-10 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 8 91025321 G C DECR1 CCDS6250.1 r.? - - intronic 28 0 0 53 10 18.9 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.841973142 0.841973142 1 0.779971047 0.779971047 1 NA NA 0 NA NA 1 5 NA 1 1 1.57E-13 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 91255394 C A - - - - - - 24 0 0 54 10 18.5 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.824153604 0.824153604 1 0.605432071 0.605432071 1 NA NA 0 NA NA 1 5 NA 1 1 1.91E-13 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 91298109 G T - - - - - - 40 0 0 59 31 52.5 44 22 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 2.338814283 0.90426967 2.586412395 2.727171492 0.909057164 3 NA NA 0 NA NA 1 5 NA 1 1 2.25E-55 1 4.51E-39 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 91378004 G A - - - - - - 39 0 0 43 19 44.2 53 20 37.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.969058882 0.984529441 2 2.056287305 1.028143653 2 NA NA 0 NA NA 1 5 NA 1 1 1.36E-32 1 1.65E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 91780752 T C - - - - - - 35 0 0 44 20 45.5 37 16 43.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 2.026972379 1.013486189 2 2.356276169 1.178138085 2 NA NA 0 NA NA 1 5 NA 1 1 1.5E-34 1 1.78E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 92227741 T A LRRC69 CCDS47890.1 r.? - - intronic 39 0 0 38 7 18.4 60 8 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.81969872 0.81969872 1 0.725427617 0.725427617 1 NA NA 0 NA NA 1 5 NA 1 1 8.61E-10 1 7.93E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 92436732 C T - - - - - - 39 0 0 40 9 22.5 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.002348978 1.002348978 1 1.472672606 1.472672606 1 NA NA 0 NA NA 1 5 NA 1 1 4.64E-13 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 92516121 A T - - - - - - 39 0 0 35 6 17.1 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.761785224 0.761785224 1 1.330859688 1.330859688 1 NA NA 0 NA NA 1 5 NA 1 1 2.24E-08 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 92525066 C A - - - - - - 39 0 0 50 18 36 42 17 40.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.603758365 1.010934087 1.586412395 2.209008909 1.104504454 2 NA NA 0 NA NA 1 5 NA 1 1 5.92E-29 1 1.73E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 92588880 C G - - - - - - 29 0 0 47 5 10.6 43 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.472217741 0.80526562 0.586412395 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.00000402 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 92687524 G T - - - - - - 41 1 2.4 42 12 28.6 54 5 9.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.274096924 1.274096924 1 0.507253898 0.507253898 1 NA NA 0 NA NA 1 5 NA 0.18577148 1 2.35E-18 1 0.00000806 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 92752228 C A - - - - - - 42 0 0 38 6 15.8 62 6 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.703871727 0.703871727 1 0.529071269 0.529071269 1 NA NA 0 NA NA 1 5 NA 1 1 3.76E-08 1 0.000000756 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 92787178 G T - - - - - - 32 0 0 43 20 46.5 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 2.071521222 1.035760611 2 1.238135857 1.238135857 1 NA NA 0 NA NA 1 5 NA 1 1 8.21E-35 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 92982373 C A RUNX1T1 CCDS47891.1 r.? - - intronic 27 0 0 41 16 39 43 20 46.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.737404896 1.095178594 1.586412395 2.536269488 0.845423163 3 NA NA 0 NA NA 1 5 NA 1 1 1.4E-26 1 8.21E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 93097982 A C RUNX1T1 CCDS6257.1 r.? - - intronic 34 0 0 44 16 36.4 55 8 14.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.621577903 1.022166688 1.586412395 0.790879733 0.790879733 1 NA NA 0 NA NA 1 5 NA 1 1 5.57E-26 1 3.86E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 93194020 A G - - - - - - 31 0 0 58 10 17.2 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.766240108 0.766240108 1 0.992690423 0.992690423 1 NA NA 0 NA NA 1 5 NA 1 1 4.1E-13 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 93250362 A G - - - - - - 36 0 0 54 22 40.7 51 16 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.81313793 0.906568965 2 1.712663697 0.856331849 2 NA NA 0 NA NA 1 5 NA 1 1 1.6E-36 1 9.28E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 93255853 T A - - - - - - 37 0 0 43 8 18.6 49 7 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.828608489 0.828608489 1 0.779971047 0.779971047 1 NA NA 0 NA NA 1 5 NA 1 1 4.85E-11 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 93331360 C T ENSG00000237766 ENST00000439686 r.? - - downstream 29 0 0 50 9 18 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.801879183 0.801879183 1 1.118140312 1.118140312 1 NA NA 0 NA NA 1 5 NA 1 1 4.07E-12 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 93363970 C T - - - - - - 23 0 0 49 12 24.5 24 2 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.091446665 1.091446665 1 0.452710468 0.452710468 1 NA NA 0 NA NA 1 5 NA 1 1 1.9E-17 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 93382764 C G - - - - - - 51 0 0 50 6 12 43 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.534586122 0.534586122 1 0 0 1 NA NA 0 NA NA 1 3 NA 1 1 0.000000206 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 93436893 C A - - - - - - 43 0 0 41 23 56.1 49 14 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 2.499190119 0.966276733 2.586412395 1.559942094 0.779971047 2 NA NA 0 NA NA 1 5 NA 1 1 2.21E-42 1 3.5E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 93543739 C A - - - - - - 50 0 0 53 14 26.4 46 9 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.176089468 1.176089468 1 1.069051225 1.069051225 1 NA NA 0 NA NA 1 5 NA 1 1 1.22E-20 1 1.82E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 93619387 A T - - - - - - 26 0 0 41 4 9.8 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.436578666 0.744490857 0.586412395 1.619939866 1.619939866 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000546 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 94172952 G A - - - - - - 28 0 0 56 13 23.2 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.033533169 1.033533169 1 0.910875278 0.910875278 1 NA NA 0 NA NA 1 5 NA 1 1 1.89E-18 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 94241639 T A - - - - - - 34 0 0 49 14 28.6 49 6 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.274096924 1.274096924 1 0.665429844 0.665429844 1 NA NA 0 NA NA 1 5 NA 1 1 3.5E-21 1 0.000000182 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 94252662 A T - - - - - - 36 0 0 47 27 57.4 49 30 61.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 2.557103616 0.988668173 2.586412395 3.338057906 1.112685969 3 NA NA 0 NA NA 1 5 NA 1 1 6.6E-50 1 1.6E-56 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 94939894 C T PDP1 CCDS6259.1 r.? - - downstream 27 0 0 45 13 28.9 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.287461577 1.287461577 1 1.249044543 1.249044543 1 NA NA 0 NA NA 1 5 NA 1 1 7.68E-20 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 94983305 G C - - - - - - 20 0 0 37 7 18.9 27 10 37 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.841973142 0.841973142 1 2.018106904 1.009053452 2 0 NA 0 NA NA 1 5 NA 1 1 7.05E-10 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 95447337 T C RAD54B CCDS6262.1 r.? - - intronic 31 0 0 53 10 18.9 54 12 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.841973142 0.841973142 1 1.210864143 1.210864143 1 NA NA 0 NA NA 1 5 NA 1 1 1.57E-13 1 6.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 96826199 G A - - - - - - 32 0 0 53 9 17 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.757330339 0.757330339 1 0.981781737 0.981781737 1 NA NA 0 NA NA 1 5 NA 1 1 7.1E-12 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 97079710 A T - - - - - - 25 0 0 41 4 9.8 72 16 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.436578666 0.744490857 0.586412395 1.210864143 1.210864143 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000546 1 4.82E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 97199834 A T - - - - - - 28 0 0 54 14 25.9 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.153815046 1.153815046 1 1.390857461 1.390857461 1 NA NA 0 NA NA 1 5 NA 1 1 1.64E-20 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 97351992 T C - - - - - - 29 0 0 34 7 20.6 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.917706176 0.917706176 1 0.779971047 0.779971047 1 NA NA 0 NA NA 1 5 NA 1 1 3.73E-10 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 97913590 G A ENSG00000104324 CCDS6273.1 r.? - - intronic 34 0 0 30 5 16.7 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.743965686 0.743965686 1 1.123594655 1.123594655 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000401 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 97919112 A G ENSG00000104324 CCDS6273.1 r.? - - intronic 32 0 0 42 10 23.8 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.060262475 1.060262475 1 1.090868597 1.090868597 1 NA NA 0 NA NA 1 5 NA 1 1 1.24E-14 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 98529130 C A - - - - - - 32 0 0 33 6 18.2 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.810788951 0.810788951 1 1.058142539 1.058142539 1 NA NA 0 NA NA 1 5 NA 1 1 1.54E-08 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 98598946 G C - - - - - - 25 0 0 35 10 28.6 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.274096924 1.274096924 1 1.723572383 0.861786192 2 NA NA 0 NA NA 1 5 NA 1 1 1.6E-15 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 98682275 G A MTDH CCDS6274.1 r.? - - intronic 29 0 0 37 11 29.7 27 3 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.323100651 1.323100651 1 0.605432071 0.605432071 1 NA NA 0 NA NA 1 5 NA 1 1 3.7E-17 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 98906836 C T MATN2 ENST00000254898 r.? - - intronic 20 0 0 40 16 40 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.781953739 0.89097687 2 1.210864143 1.210864143 1 NA NA 0 NA NA 1 5 NA 1 1 8.56E-27 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 98929803 G T MATN2 ENST00000254898 r.? - - intronic 35 0 0 35 8 22.9 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.020168516 1.020168516 1 1.472672606 1.472672606 1 NA NA 0 NA NA 1 5 NA 1 1 8.15E-12 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 99035007 G C MATN2 ENST00000254898 r.? - - intronic 35 0 0 26 6 23.1 18 4 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.029078284 1.029078284 1 1.210864143 1.210864143 1 NA NA 0 NA NA 1 5 NA 1 1 3.3E-09 1 0.00000181 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 99794022 A C ENSG00000104375 CCDS47900.1 r.? - - intronic 24 0 0 37 7 18.9 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.841973142 0.841973142 1 1.259953229 1.259953229 1 NA NA 0 NA NA 1 5 NA 1 1 7.05E-10 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 100336083 G T VPS13B CCDS6280.1 r.? - - intronic 42 0 0 37 15 40.5 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.804228161 0.902114081 2 1.559942094 1.559942094 1 NA NA 0 NA NA 1 5 NA 1 1 2.58E-25 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 100512943 G A VPS13B CCDS6280.1 r.? - - intronic 32 0 0 34 10 29.4 46 15 32.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.309735998 1.309735998 1 1.778115813 0.889057906 2 NA NA 0 NA NA 1 5 NA 1 1 1.15E-15 1 1.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 100572232 G T VPS13B CCDS6280.1 r.? - - intronic 40 0 0 44 7 15.9 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.708326611 0.708326611 1 0.632703786 0.632703786 1 NA NA 0 NA NA 1 5 NA 1 1 2.55E-09 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 100699726 A G VPS13B CCDS6280.1 r.? - - intronic 25 0 0 47 16 34 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.514660678 0.954771082 1.586412395 1.581759465 1.581759465 1 NA NA 0 NA NA 1 5 NA 1 1 1.98E-25 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 101354135 G A - - - - - - 33 0 0 51 15 29.4 64 10 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.309735998 1.309735998 1 0.850877506 0.850877506 1 NA NA 0 NA NA 1 5 NA 1 1 8.22E-23 1 1.16E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 101388669 T C - - - - - - 37 0 0 55 10 18.2 55 7 12.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.810788951 0.810788951 1 0.692701559 0.692701559 1 NA NA 0 NA NA 1 5 NA 1 1 2.33E-13 1 1.28E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 101485607 A T - - - - - - 31 0 0 65 11 16.9 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.752875455 0.752875455 1 0.763608018 0.763608018 1 NA NA 0 NA NA 1 5 NA 1 1 3.41E-14 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 101493784 C A - - - - - - 31 0 0 57 7 12.3 54 4 7.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.547950775 0.934411993 0.586412395 0.403621381 0.403621381 1 NA NA 0 NA NA 1 5 NA 1 1 1.66E-08 1 0.000161898 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 101588963 G C SNX31 CCDS6288.1 r.? - - intronic 47 0 0 50 6 12 66 12 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.534586122 0.534586122 1 0.992690423 0.992690423 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000206 1 9.36E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 101592939 T C SNX31 CCDS6288.1 r.? - - intronic 35 0 0 45 23 51.1 51 16 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 2.276445902 0.880155812 2.586412395 1.712663697 0.856331849 2 NA NA 0 NA NA 1 5 NA 1 1 4.42E-41 1 9.28E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 101658668 G T SNX31 CCDS6288.1 r.? - - intronic 18 0 0 40 6 15 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.668232652 0.668232652 1 1.489035635 1.489035635 1 NA NA 0 NA NA 1 5 NA 1 1 5.18E-08 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 102316681 G A RNU7-67P ENST00000459003 r.? - - upstream 25 0 0 49 14 28.6 38 3 7.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.274096924 1.274096924 1 0.430893096 0.430893096 1 NA NA 0 NA NA 1 5 NA 1 1 3.5E-21 1 0.000925091 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 102316682 C A RNU7-67P ENST00000459003 r.? - - upstream 26 0 0 49 14 28.6 38 3 7.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.274096924 1.274096924 1 0.430893096 0.430893096 1 NA NA 0 NA NA 1 5 NA 1 1 3.5E-21 1 0.000925091 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 102373616 C G ENSG00000228224 ENST00000419462 r.? - - upstream 29 0 0 49 5 10.2 56 14 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.454398204 0.774878238 0.586412395 1.363585746 1.363585746 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000496 1 2.91E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 102807454 T A NCALD CCDS6292.1 r.? - - intronic 48 0 0 45 12 26.7 49 10 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.189454121 1.189454121 1 1.112685969 1.112685969 1 NA NA 0 NA NA 1 5 NA 1 1 6.03E-18 1 6.72E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 102997658 C T NCALD CCDS6292.1 r.? - - intronic 22 0 0 49 6 12.2 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.543495891 0.543495891 1 1.816296214 0.908148107 2 NA NA 0 NA NA 1 5 NA 1 1 0.000000182 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 103215160 C T RRM2B CCDS34932.1 r.? - - downstream 29 0 0 63 11 17.5 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.779604761 0.779604761 1 1.090868597 1.090868597 1 NA NA 0 NA NA 1 5 NA 1 1 2.37E-14 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 103506846 C T - - - - - - 26 0 0 40 10 25 52 8 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.113721087 1.113721087 1 0.83996882 0.83996882 1 NA NA 0 NA NA 1 5 NA 1 1 7.22E-15 1 2.42E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 103521574 G T - - - - - - 31 0 0 57 7 12.3 56 11 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.547950775 0.934411993 0.586412395 1.069051225 1.069051225 1 NA NA 0 NA NA 1 5 NA 1 1 1.66E-08 1 5.91E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 103840608 C G AZIN1 CCDS6295.1 r.2276g>c c.? p.? 3'UTR variant 39 0 0 46 7 15.2 54 6 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.677142421 0.677142421 1 0.605432071 0.605432071 1 NA NA 0 NA NA 1 5 NA 1 1 3.53E-09 1 0.000000329 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 104028308 A T ATP6V1C1 CCDS6296.1 r.? - 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- - - - - 25 0 0 44 7 15.9 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.708326611 0.708326611 1 1.090868597 1.090868597 1 NA NA 0 NA NA 1 5 NA 1 1 2.55E-09 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 113248092 T C CSMD3 CCDS6315.1 r.? - - intronic 36 0 0 36 7 19.4 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.864247564 0.864247564 1 1.281770601 1.281770601 1 NA NA 0 NA NA 1 5 NA 1 1 5.74E-10 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 113266657 A G CSMD3 CCDS6315.1 r.? - - intronic 32 0 0 53 12 22.6 35 3 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.006803863 1.006803863 1 0.469073497 0.469073497 1 NA NA 0 NA NA 1 5 NA 1 1 5.39E-17 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 113311116 C T CSMD3 CCDS6315.1 r.? - - intronic 27 0 0 50 11 22 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.980074557 0.980074557 1 0.910875278 0.910875278 1 NA NA 0 NA NA 1 5 NA 1 1 1.52E-15 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 113311737 T C CSMD3 CCDS6315.1 r.? - 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- intronic 40 0 0 45 9 20 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.89097687 0.89097687 1 0.796334076 0.796334076 1 NA NA 0 NA NA 1 5 NA 1 1 1.47E-12 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 113433667 G A CSMD3 CCDS6315.1 r.? - - intronic 33 0 0 29 12 41.4 30 20 66.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.84432212 0.92216106 2 3.638046771 1.212682257 3 NA NA 0 NA NA 1 5 NA 1 1 1.17E-20 1 2.73E-39 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 113439266 G C CSMD3 CCDS6315.1 r.? - - intronic 31 0 0 42 12 28.6 51 9 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 1.274096924 1.274096924 1 0.959964365 0.959964365 1 NA NA 0 NA NA 1 5 NA 1 1 2.35E-18 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 113677255 G C CSMD3 CCDS6315.1 r.? - - intronic 38 0 0 48 9 18.8 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.586412395 3 2 3 0 0 0.413587605 1 3 NA 0 NA 0.586412395 NA 0.837518258 0.837518258 1 1.118140312 1.118140312 1 NA NA 0 NA NA 1 5 NA 1 1 2.75E-12 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 113681591 T A CSMD3 CCDS6315.1 r.? - 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- - - - - 30 0 0 58 16 27.6 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.619698259 0.80984913 2 0.981060134 0.981060134 1 NA NA 1 NA NA 1 5 NA 1 1 1E-23 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 116094569 A C - - - - - - 40 0 0 61 21 34.4 71 17 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.018754352 1.009377176 2 1.542587973 0.771293987 2 NA NA 1 NA NA 1 5 NA 1 1 4.8E-33 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 116134721 A T - - - - - - 40 0 0 46 5 10.9 61 7 11.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.639663443 0.639663443 1 0.742249443 0.742249443 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000361 1 2.69E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 116346740 T A - - - - - - 33 0 0 71 47 66.2 54 34 63 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 3.884928433 0.971232108 4 4.06623608 1.01655902 4 NA NA 1 NA NA 1 5 NA 1 1 3.35E-90 1 1.7E-64 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 116578861 A G TRPS1 CCDS6318.2 r.? - - intronic 40 0 0 62 21 33.9 54 17 31.5 2 0 0 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.989411992 0.994705996 2 2.03311804 1.01655902 2 NA NA 1 NA NA 1 5 NA 1 1 7.22E-33 1 3.02E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 116640838 T G TRPS1 CCDS6318.2 r.? - - intronic 47 0 0 63 6 9.5 63 7 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.557504836 0.557504836 1 0.716432071 0.716432071 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000832 1 3.38E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 116747923 G T TRPS1 ENST00000422939 r.? - - intronic 41 0 0 51 34 66.7 54 37 68.5 1 0 0 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 3.914270793 0.978567698 4 4.421224944 1.105306236 4 NA NA 1 NA NA 1 5 NA 1 1 7.91E-66 1 3.16E-72 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 116860716 A G - - - - - - 32 0 0 61 7 11.5 69 10 14.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.674874275 0.674874275 1 0.935879733 0.935879733 1 NA NA 1 NA NA 1 5 NA 1 1 2.69E-08 1 2.54E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 116985617 G T AF130342.1 ENST00000505156 r.? - - intronic 24 0 0 59 10 16.9 61 14 23 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.99177176 0.99177176 1 1.484498886 1.484498886 1 NA NA 1 NA NA 1 5 NA 1 1 4.91E-13 1 1.1E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 117061859 T A AF130342.1 ENST00000505156 r.? - - intronic 45 0 0 56 22 39.3 51 20 39.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.306309478 1.153154739 2 2.53010245 0.843367483 3 NA NA 1 NA NA 1 5 NA 1 1 4.34E-36 1 6.38E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 117358808 G T - - - - - - 29 0 0 46 8 17.4 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.02111412 1.02111412 1 0.851973274 0.851973274 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-11 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 117528898 C G - - - - - - 41 0 0 54 9 16.7 49 5 10.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.980034816 0.980034816 1 0.658342984 0.658342984 1 NA NA 1 NA NA 1 5 NA 1 1 8.48E-12 1 0.00000496 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 118015286 T G SLC30A8 CCDS6322.1 r.? - - intronic 35 0 0 61 13 21.3 54 12 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.249984526 1.249984526 1 1.432864143 1.432864143 1 NA NA 1 NA NA 1 5 NA 1 1 6.41E-18 1 6.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 118033675 C A SLC30A8 CCDS6322.1 r.? - - intronic 30 0 0 64 18 28.1 72 17 23.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.649040619 0.824520309 2 1.523224944 0.761612472 2 NA NA 1 NA NA 1 5 NA 1 1 1.1E-26 1 7.97E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 118050297 T C SLC30A8 CCDS6322.1 r.? - - intronic 34 0 0 65 14 21.5 69 10 14.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.26172147 1.26172147 1 0.935879733 0.935879733 1 NA NA 1 NA NA 1 5 NA 1 1 2.93E-19 1 2.54E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 118222108 A T - - - - - - 34 0 0 67 7 10.4 68 5 7.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.610321083 0.610321083 1 0.477621381 0.477621381 1 NA NA 1 NA NA 1 5 NA 1 1 5.23E-08 1 0.0000251 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 118339737 G T - - - - - - 40 0 0 65 16 24.6 62 17 27.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.443644101 1.443644101 1 1.768489978 0.884244989 2 NA NA 1 NA NA 1 5 NA 1 1 7.85E-23 1 4.56E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 118614785 T C - - - - - - 36 0 0 56 8 14.3 67 13 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.839191489 0.839191489 1 1.252142539 1.252142539 1 NA NA 1 NA NA 1 5 NA 1 1 4.48E-10 1 2.41E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 118655645 T A - - - - - - 32 0 0 63 12 19 56 6 10.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.115009671 1.115009671 1 0.690614699 0.690614699 1 NA NA 1 NA NA 1 5 NA 1 1 5.15E-16 1 0.000000409 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 118681851 T G - - - - - - 43 0 0 69 23 33.3 76 32 42.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.954201161 0.97710058 2 2.717278396 0.905759465 3 NA NA 1 NA NA 1 5 NA 1 1 1.15E-35 1 5.07E-53 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 118698078 A G - - - - - - 33 0 0 60 11 18.3 60 7 11.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.073930368 1.073930368 1 0.755158129 0.755158129 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-14 1 2.39E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 119080920 G C EXT1 CCDS6324.1 r.? - - intronic 36 0 0 60 11 18.3 61 13 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.073930368 1.073930368 1 1.374775056 1.374775056 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-14 1 6.41E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 119397742 C G SAMD12 CCDS47913.1 r.? - - intronic 42 0 0 58 10 17.2 52 13 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.009377176 1.009377176 1 1.613585746 0.806792873 2 NA NA 1 NA NA 1 5 NA 1 1 4.1E-13 1 6.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 119506685 T A SAMD12 CCDS47913.1 r.? - - intronic 33 0 0 61 18 29.5 50 11 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.731199226 0.865599613 2 1.419955457 1.419955457 1 NA NA 1 NA NA 1 5 NA 1 1 4.08E-27 1 1.52E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 119904480 T C - - - - - - 29 0 0 60 18 30 62 16 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.760541586 0.880270793 2 1.66522049 0.832610245 2 NA NA 1 NA NA 1 5 NA 1 1 2.89E-27 1 3.36E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 120479929 C A - - - - - - 28 0 0 64 6 9.4 64 12 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.551636364 0.551636364 1 1.213416481 1.213416481 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000914 1 6.3E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 120660663 G A - - - - - - 32 0 0 76 21 27.6 48 16 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.619698259 0.80984913 2 2.149296214 1.074648107 2 NA NA 1 NA NA 1 5 NA 1 1 1.07E-30 1 2.96E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 120731850 G A - - - - - - 30 0 0 69 17 24.6 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.443644101 1.443644101 1 1.342503341 1.342503341 1 NA NA 1 NA NA 1 5 NA 1 1 3.56E-24 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 120732467 G A - - - - - - 26 0 0 76 43 56.6 73 40 54.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 3.321555126 1.107185042 3 3.536979955 0.884244989 4 NA NA 1 NA NA 1 5 NA 1 1 3.48E-78 1 4.88E-72 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 120757209 T G TAF2 CCDS34937.1 r.? - - intronic 34 0 0 72 18 25 54 17 31.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.467117988 1.467117988 1 2.03311804 1.01655902 2 NA NA 1 NA NA 1 5 NA 1 1 1.22E-25 1 3.02E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 120913037 C A DEPDC6 CCDS6331.1 r.? - - intronic 30 0 0 70 17 24.3 63 23 36.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.426038685 1.426038685 1 2.355835189 1.177917595 2 NA NA 1 NA NA 1 5 NA 1 1 4.68E-24 1 9.25E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 120931858 C T DEPDC6 CCDS6331.1 r.? - - intronic 32 0 0 59 18 30.5 78 16 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.789883946 0.894941973 2 1.323140312 1.323140312 1 NA NA 1 NA NA 1 5 NA 1 1 2.03E-27 1 1.96E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 121132508 G T COL14A1 CCDS34938.1 r.? - - upstream 39 0 0 63 8 12.7 56 12 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.745295938 0.745295938 1 1.381229399 1.381229399 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-09 1 1.11E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 121229866 C T COL14A1 CCDS34938.1 r.? - - intronic 33 0 0 52 18 34.6 63 15 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.030491296 1.015245648 2 1.53613363 0.768066815 2 NA NA 1 NA NA 1 5 NA 1 1 1.39E-28 1 2.97E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 121233483 A G COL14A1 CCDS34938.1 r.? - - intronic 37 0 0 63 22 34.9 63 16 25.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.048096712 1.024048356 2 1.639403118 0.819701559 2 NA NA 1 NA NA 1 5 NA 1 1 1.03E-34 1 4.48E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 121338294 T C COL14A1 CCDS34938.1 r.? - - intronic 35 0 0 57 14 24.6 59 17 28.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.443644101 1.443644101 1 1.85885078 0.92942539 2 NA NA 1 NA NA 1 5 NA 1 1 3.84E-20 1 1.74E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 121746783 G A SNTB1 CCDS6334.1 r.? - - intronic 33 0 0 66 17 25.8 62 12 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.514065764 0.757032882 2 1.252142539 1.252142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-24 1 4.19E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 121825398 A T SNTB1 CCDS6334.1 r.? - - upstream 30 0 0 62 12 19.4 63 24 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.138483559 1.138483559 1 2.459104677 0.819701559 3 NA NA 1 NA NA 1 5 NA 1 1 4.19E-16 1 7.74E-39 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 121927996 C T - - - - - - 45 0 0 72 15 20.8 71 11 15.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.220642166 1.220642166 1 1.000423163 1.000423163 1 NA NA 1 NA NA 1 5 NA 1 1 2.7E-20 1 9.49E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 121963606 T G - - - - - - 46 0 0 70 9 12.9 64 7 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.757032882 0.757032882 1 0.703523385 0.703523385 1 NA NA 1 NA NA 1 5 NA 1 1 9.65E-11 1 3.78E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 122219785 A G - - - - - - 43 0 0 51 19 37.3 39 17 43.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.188940039 1.094470019 2 2.814093541 0.93803118 3 NA NA 1 NA NA 1 5 NA 1 1 7.94E-31 1 3.51E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 122276323 G A - - - - - - 31 0 0 62 19 30.6 51 12 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.795752418 0.897876209 2 1.516770601 1.516770601 1 NA NA 1 NA NA 1 5 NA 1 1 6.66E-29 1 3.24E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 122400755 C A - - - - - - 42 0 0 53 6 11.3 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.663137331 0.663137331 1 0.981060134 0.981060134 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000293 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 122413051 C G - - - - - - 40 0 0 65 7 10.8 50 7 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.633794971 0.633794971 1 0.903608018 0.903608018 1 NA NA 1 NA NA 1 5 NA 1 1 4.22E-08 1 6.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 122681869 G T - - - - - - 35 0 0 62 9 14.5 56 9 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.850928433 0.850928433 1 1.03914922 1.03914922 1 NA NA 1 NA NA 1 5 NA 1 1 3.12E-11 1 1.2E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 122692992 G A - - - - - - 37 0 0 48 16 33.3 51 20 39.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.954201161 0.97710058 2 2.53010245 0.843367483 3 NA NA 1 NA NA 1 5 NA 1 1 2.96E-25 1 6.38E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 123009060 A G - - - - - - 29 0 0 53 16 30.2 44 17 38.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.77227853 0.886139265 2 2.491376392 0.830458797 3 NA NA 1 NA NA 1 5 NA 1 1 1.9E-24 1 4.61E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 123389841 G T - - - - - - 45 0 0 55 18 32.7 44 15 34.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.918990329 0.959495164 2 2.200930958 1.100465479 2 NA NA 1 NA NA 1 5 NA 1 1 4.61E-28 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 123504312 G A - - - - - - 40 0 0 48 7 14.6 53 10 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.856796905 0.856796905 1 1.219870824 1.219870824 1 NA NA 1 NA NA 1 5 NA 1 1 4.81E-09 1 1.57E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 124248901 G A C8orf76 CCDS6341.1 r.? - - intronic 14 0 0 51 12 23.5 46 4 8.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.379090909 1.379090909 1 0.56152784 0.56152784 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-17 1 0.0000862 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 124306051 A G - - - - - - 23 0 0 70 30 42.9 44 17 38.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.517574468 0.839191489 3 2.491376392 0.830458797 3 NA NA 1 NA NA 1 5 NA 1 1 4.25E-50 1 4.61E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 124332757 T C ATAD2 CCDS6343.1 r.4898a>g c.? p.? 3'UTR variant 24 0 0 57 16 28.1 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.649040619 0.824520309 2 1.10369265 1.10369265 1 NA NA 1 NA NA 1 5 NA 1 1 7.28E-24 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 124451988 C A WDYHV1 CCDS6344.1 r.? - - intronic 38 0 0 70 10 14.3 52 7 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.839191489 0.839191489 1 0.871336303 0.871336303 1 NA NA 1 NA NA 1 5 NA 1 1 2.95E-12 1 8.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 124546947 G C FBXO32 CCDS6345.1 r.416c>g c.224C>G p.T75S missense 35 0 0 64 18 28.1 49 22 44.9 141 0 0 121 39 32.2 352 30 8.5 TRUE TRUE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.649040619 0.824520309 2 2.898 0.966 3 1.889647969 0.944823985 2 0.548619154 0.548619154 1 5 6 1 1 1.1E-26 1.02E-58 1.04E-37 5.15E-27 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 8 125002584 A G FER1L6 CCDS43767.1 r.? - - intronic 43 0 0 40 7 17.5 54 9 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.026982592 1.026982592 1 1.077875278 1.077875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 8.48E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 125188831 G C - - - - - - 23 0 0 53 37 69.8 58 33 56.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 4.096193424 1.024048356 4 3.672521158 0.91813029 4 NA NA 1 NA NA 1 5 NA 1 1 9.99E-73 1 1.8E-60 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 125190447 G C - - - - - - 13 0 0 31 5 16.1 25 3 12 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.944823985 0.944823985 1 0.774521158 0.774521158 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000476 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 125221956 T C ENSG00000214803 ENST00000399016 r.? - - intronic 37 0 0 51 13 25.5 65 10 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.496460348 1.496460348 1 0.99396882 0.99396882 1 NA NA 1 NA NA 1 5 NA 1 1 4.87E-19 1 1.36E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 125240503 T A ENSG00000214803 ENST00000399016 r.? - - intronic 26 0 0 60 9 15 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.880270793 0.880270793 1 1.820124722 0.910062361 2 NA NA 1 NA NA 1 5 NA 1 1 2.29E-11 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 125270969 T C - - - - - - 34 0 0 46 7 15.2 52 8 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.892007737 0.892007737 1 0.99396882 0.99396882 1 NA NA 1 NA NA 1 5 NA 1 1 3.53E-09 1 2.42E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 125676287 G C MTSS1 CCDS6353.1 r.? - - intronic 34 0 0 64 9 14.1 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.827454545 0.827454545 1 1.36186637 1.36186637 1 NA NA 1 NA NA 1 5 NA 1 1 4.2E-11 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 125689840 T C MTSS1 CCDS6353.1 r.? - - intronic 33 0 0 48 35 72.9 50 26 52 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 4.278116054 1.069529014 4 3.356258352 1.118752784 3 NA NA 1 NA NA 1 5 NA 1 1 5.27E-70 1 1.61E-46 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 126775832 A T - - - - - - 31 0 0 57 16 28.1 59 13 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.649040619 0.824520309 2 1.419955457 1.419955457 1 NA NA 1 NA NA 1 5 NA 1 1 7.28E-24 1 3.99E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 127103421 C T - - - - - - 29 0 0 56 24 42.9 58 19 32.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.517574468 0.839191489 3 2.117024499 1.058512249 2 NA NA 1 NA NA 1 5 NA 1 1 2.23E-40 1 1.5E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 127247228 A T - - - - - - 39 0 0 65 13 20 48 5 10.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.173694391 1.173694391 1 0.67125167 0.67125167 1 NA NA 1 NA NA 1 5 NA 1 1 1.57E-17 1 0.00000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 127380404 G C - - - - - - 34 0 0 56 9 16.1 56 7 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.944823985 0.944823985 1 0.806792873 0.806792873 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-11 1 1.46E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 127434823 G C - - - - - - 41 0 0 57 9 15.8 58 14 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.927218569 0.927218569 1 1.555496659 1.555496659 1 NA NA 1 NA NA 1 5 NA 1 1 1.42E-11 1 5.04E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 127606491 G C - - - - - - 34 0 0 52 11 21.2 55 10 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.244116054 1.244116054 1 1.174690423 1.174690423 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-15 1 2.33E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 127617942 T C - - - - - - 43 0 0 64 10 15.6 44 5 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.915481625 0.915481625 1 0.7357951 0.7357951 1 NA NA 1 NA NA 1 5 NA 1 1 1.16E-12 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 128008060 T G - - - - - - 40 0 0 60 15 25 51 20 39.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.467117988 1.467117988 1 2.53010245 0.843367483 3 NA NA 1 NA NA 1 5 NA 1 1 1.31E-21 1 6.38E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 128270091 A C - - - - - - 31 0 0 62 40 64.5 45 31 68.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 3.78516441 0.946291103 4 4.447042316 1.111760579 4 NA NA 1 NA NA 1 5 NA 1 1 2.8E-76 1 7.26E-61 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 128545699 G C - - - - - - 29 0 0 67 8 11.9 62 8 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.698348162 0.698348162 1 0.832610245 0.832610245 1 NA NA 1 NA NA 1 5 NA 1 1 1.96E-09 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 128722976 G A - - - - - - 31 0 0 58 45 77.6 63 42 66.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 4.553934236 1.138483559 4 4.305046771 1.076261693 4 NA NA 1 NA NA 1 5 NA 1 1 8.41E-92 1 5.67E-81 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 128757633 G A MYC CCDS6359.2 r.? - - downstream 28 0 0 59 19 32.2 42 16 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.889647969 0.944823985 2 2.459104677 0.819701559 3 NA NA 1 NA NA 1 5 NA 1 1 2.2E-29 1 2.25E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 128764324 G C - - - - - - 34 0 0 70 5 7.1 51 14 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.416661509 0.416661509 1 1.774944321 0.88747216 2 NA NA 1 NA NA 1 5 NA 1 1 0.0000289 1 6.64E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 128822053 T C PVT1 CCDS3617.1 r.? - - intronic 16 0 0 48 10 20.8 47 11 23.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.220642166 1.220642166 1 1.510316258 1.510316258 1 NA NA 1 NA NA 1 5 NA 1 1 5.37E-14 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 128913289 G T PVT1 CCDS3617.1 r.? - - intronic 24 0 0 54 7 13 59 5 8.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.762901354 0.762901354 1 0.548619154 0.548619154 1 NA NA 1 NA NA 1 5 NA 1 1 1.13E-08 1 0.0000125 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 128980951 G T PVT1 CCDS3617.1 r.? - - intronic 24 0 0 75 13 17.3 60 8 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.015245648 1.015245648 1 0.858427617 0.858427617 1 NA NA 1 NA NA 1 5 NA 1 1 1.16E-16 1 7.93E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 129159435 G T MIR1208 ENST00000408334 r.? - - upstream 40 0 0 54 19 35.2 64 19 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.065702128 1.032851064 2 1.916939866 0.958469933 2 NA NA 1 NA NA 1 5 NA 1 1 2.97E-30 1 1.34E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 129159436 A G MIR1208 ENST00000408334 r.? - - upstream 39 0 0 55 20 36.4 62 19 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.136123791 1.068061896 2 1.975028953 0.987514477 2 NA NA 1 NA NA 1 5 NA 1 1 4.08E-32 1 6.66E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 129318166 C G - - - - - - 26 0 0 58 6 10.3 61 11 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.604452611 0.604452611 1 1.161781737 1.161781737 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000506 1 1.62E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 129478752 T A - - - - - - 24 0 0 69 15 21.7 49 3 6.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.273458414 1.273458414 1 0.393714922 0.393714922 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-20 1 0.001939399 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 129619422 C T - - - - - - 34 0 0 55 6 10.9 63 9 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.639663443 0.639663443 1 0.922971047 0.922971047 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000367 1 3.62E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 129665640 A G - - - - - - 36 0 0 54 8 14.8 59 10 16.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.868533849 0.868533849 1 1.090783964 1.090783964 1 NA NA 1 NA NA 1 5 NA 1 1 3.31E-10 1 4.91E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 129740273 A T - - - - - - 43 0 0 50 5 10 56 18 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.586847195 0.586847195 1 2.071844098 1.035922049 2 NA NA 1 NA NA 1 5 NA 1 1 0.00000549 1 6.76E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 129857399 A T - - - - - - 30 0 0 45 5 11.1 55 11 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.651400387 0.651400387 1 1.290868597 1.290868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000323 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 129930758 G C - - - - - - 31 0 0 46 12 26.1 56 10 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.53167118 1.53167118 1 1.155327394 1.155327394 1 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 2.82E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 129991545 A T - - - - - - 39 0 0 58 10 17.2 52 1 1.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.009377176 1.009377176 1 0.122632517 0.122632517 1 NA NA 1 NA NA 1 5 NA 1 1 4.1E-13 1 0.229451111 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 130017045 A G - - - - - - 38 0 0 68 9 13.2 57 20 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.774638298 0.774638298 1 2.265474388 1.132737194 2 NA NA 1 NA NA 1 5 NA 1 1 7.38E-11 1 9.67E-32 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 130078638 C T - - - - - - 45 0 0 63 10 15.9 69 6 8.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.933087041 0.933087041 1 0.56152784 0.56152784 1 NA NA 1 NA NA 1 5 NA 1 1 9.81E-13 1 0.00000143 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 130356180 C A - - - - - - 32 0 0 69 11 15.9 63 7 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.933087041 0.933087041 1 0.716432071 0.716432071 1 NA NA 1 NA NA 1 5 NA 1 1 6.82E-14 1 3.38E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 130439766 A T AC013300.1 ENST00000446592 r.? - - intronic 38 0 0 55 6 10.9 58 5 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.639663443 0.639663443 1 0.555073497 0.555073497 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000367 1 0.0000115 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 130471485 C A AC013300.1 ENST00000446592 r.? - - intronic 28 0 0 66 14 21.2 50 13 26 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.244116054 1.244116054 1 1.678129176 0.839064588 2 NA NA 1 NA NA 1 5 NA 1 1 3.71E-19 1 3.65E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 130694263 C T AC013300.1 ENST00000446592 r.? - - upstream 31 0 0 55 27 49.1 49 26 53.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.881419729 0.960473243 3 3.427256125 1.142418708 3 NA NA 1 NA NA 1 5 NA 1 1 2.49E-47 1 7.78E-47 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 130694481 T G AC013300.1 ENST00000446592 r.? - - upstream 32 0 0 59 29 49.2 65 36 55.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.887288201 0.9624294 3 3.575706013 0.893926503 4 NA NA 1 NA NA 1 5 NA 1 1 9.52E-51 1 3.17E-65 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 131333135 G A ASAP1 CCDS6362.1 r.? - - intronic 40 0 0 67 24 35.8 63 6 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.100912959 1.05045648 2 0.613162584 0.613162584 1 NA NA 1 NA NA 1 5 NA 1 1 4.72E-38 1 0.000000832 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 131616706 C A - - - - - - 48 0 0 52 5 9.6 75 12 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.563373308 0.563373308 1 1.032694878 1.032694878 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000668 1 4.77E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 131633004 T A - - - - - - 46 0 0 50 12 24 62 12 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.408433269 1.408433269 1 1.252142539 1.252142539 1 NA NA 1 NA NA 1 5 NA 1 1 2.49E-17 1 4.19E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 131775059 C A - - - - - - 35 0 0 60 18 30 74 19 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.760541586 0.880270793 2 1.658766147 0.829383073 2 NA NA 1 NA NA 1 5 NA 1 1 2.89E-27 1 3.14E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 131991682 A G ADCY8 CCDS6363.1 r.? - - intronic 34 0 0 62 19 30.6 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.795752418 0.897876209 2 1.762035635 1.762035635 1 NA NA 1 NA NA 1 5 NA 1 1 6.66E-29 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 132051611 A G ADCY8 CCDS6363.1 r.1216+9u>c c.960+9T>C p.? splice region 29 0 0 58 12 20.7 51 9 17.6 250 0 0 363 61 16.8 35 0 0 TRUE TRUE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.214773694 1.214773694 1 1.135964365 1.135964365 1 0.985903288 0.985903288 1 0 0 1 5 5 1 1 1.76E-16 1.31E-71 4.92E-12 1 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9776b 8 132088036 G T - - - - - - 37 0 0 61 7 11.5 66 8 12.1 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.674874275 0.674874275 1 0.780975501 0.780975501 1 NA NA 1 0 0 1 5 NA 1 1 2.69E-08 1 1.73E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 132139261 C A - - - - - - 24 0 0 47 8 17 64 13 20.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.997640232 0.997640232 1 1.310231626 1.310231626 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-10 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 132140078 A T - - - - - - 36 0 0 54 7 13 79 9 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.762901354 0.762901354 1 0.7357951 0.7357951 1 NA NA 1 NA NA 1 5 NA 1 1 1.13E-08 1 2.93E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 132209094 C A - - - - - - 28 0 0 59 21 35.6 46 16 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.089176015 1.044588008 2 2.246111359 1.123055679 2 NA NA 1 NA NA 1 5 NA 1 1 2.06E-33 1 1.31E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 132270733 T A - - - - - - 29 0 0 57 6 10.5 70 7 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.616189555 0.616189555 1 0.645434298 0.645434298 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000456 1 7.11E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 132327386 G T - - - - - - 27 0 0 45 8 17.8 57 14 24.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.044588008 1.044588008 1 1.587768374 0.793884187 2 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 3.84E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 132500737 T C - - - - - - 27 0 0 48 11 22.9 55 8 14.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.343880077 1.343880077 1 0.935879733 0.935879733 1 NA NA 1 NA NA 1 5 NA 1 1 9.31E-16 1 3.86E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 132611484 A G - - - - - - 30 0 0 76 23 30.3 63 14 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.778147002 0.889073501 2 1.432864143 1.432864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.58E-34 1 1.81E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 132622746 A T - - - - - - 20 0 0 59 10 16.9 73 11 15.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.99177176 0.99177176 1 0.974605791 0.974605791 1 NA NA 1 NA NA 1 5 NA 1 1 4.91E-13 1 1.31E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 132665513 C T - - - - - - 29 0 0 58 21 36.2 77 16 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 2.124386847 1.062193424 2 1.342503341 1.342503341 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-33 1 1.56E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 132774281 T G - - - - - - 31 0 0 75 11 14.7 52 6 11.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.862665377 0.862665377 1 0.742249443 0.742249443 1 NA NA 1 NA NA 1 5 NA 1 1 1.78E-13 1 0.000000261 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 133018530 T G EFR3A CCDS34942.2 r.? - - intronic 42 0 0 69 8 11.6 63 5 7.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.680742747 0.680742747 1 0.509893096 0.509893096 1 NA NA 1 NA NA 1 5 NA 1 1 2.49E-09 1 0.0000173 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 133113388 T C OC90 CCDS47920.1 r.? - - intronic 39 0 0 56 10 17.9 65 10 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.05045648 1.05045648 1 0.99396882 0.99396882 1 NA NA 1 NA NA 1 5 NA 1 1 2.82E-13 1 1.36E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 133175841 G T KCNQ3 CCDS34943.1 r.? - - intronic 35 0 0 75 8 10.7 59 5 8.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.627926499 0.627926499 1 0.548619154 0.548619154 1 NA NA 1 NA NA 1 5 NA 1 1 4.89E-09 1 0.0000125 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 133189633 G A KCNQ3 CCDS34943.1 r.? - - intronic 28 0 0 74 7 9.5 69 8 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.557504836 0.557504836 1 0.748703786 0.748703786 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000105 1 2.49E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 133318047 T A KCNQ3 CCDS34943.1 r.? - - intronic 39 0 0 74 20 27 65 17 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 1.584487427 0.792243714 2 1.691037862 0.845518931 2 NA NA 1 NA NA 1 5 NA 1 1 4.34E-29 1 1.14E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 133418348 A G KCNQ3 CCDS34943.1 r.? - - intronic 25 0 0 79 8 10.1 67 8 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.592715667 0.592715667 1 0.768066815 0.768066815 1 NA NA 1 NA NA 1 5 NA 1 1 7.43E-09 1 1.96E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 134084244 G C TG CCDS34944.1 r.? - - intronic 25 0 0 93 17 18.3 80 20 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.596100091 7 4 5 2 2 0.403899909 1 5 NA 2 NA 0.596100091 NA 1.549016684 0.970500968 1.596100091 2.363585746 1.181792873 2 NA NA 0 NA NA 1 5 NA 1 1 9.19E-22 1 2.53E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 134146226 G T TG CCDS34944.1 r.? - - intronic 27 0 0 91 10 11 81 8 9.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.596100091 7 4 5 2 2 0.403899909 1 5 NA 2 NA 0.596100091 NA 0.931102925 0.931102925 1 0.935979955 0.935979955 1 NA NA 0 NA NA 1 5 NA 1 1 4.34E-11 1 9.08E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 134358375 G A - - - - - - 36 0 0 83 17 20.5 76 19 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.596100091 7 4 5 2 2 0.403899909 1 5 NA 2 NA 0.596100091 NA 1.735237269 1.087173216 1.596100091 2.363585746 1.181792873 2 NA NA 0 NA NA 1 5 NA 1 1 1.14E-22 1 5.56E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 134431658 C A - 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- - - - - 34 0 0 84 7 8.3 64 4 6.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.664508429 0.664508429 1 0.524169265 0.524169265 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000253 1 0.000312605 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 138797819 A T - - - - - - 46 0 0 72 20 27.8 78 11 14.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 2.225702931 1.112851466 2 1.192062361 1.192062361 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-29 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 138854255 C G - - - - - - 36 0 0 73 8 11 66 7 10.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.880673822 0.880673822 1 0.896160356 0.896160356 1 NA NA 1 NA NA 1 5 NA 1 1 3.93E-09 1 0.000000047 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 138951072 G T - - - - - - 31 0 0 66 5 7.6 86 12 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.608465549 0.608465549 1 1.183608018 1.183608018 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000217 1 2.65E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 138990995 T A - 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- intronic 22 0 0 73 37 50.7 68 31 45.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 4.059105705 1.014776426 4 3.855180401 0.9637951 4 NA NA 1 NA NA 1 5 NA 1 1 5.33E-65 1 8.53E-53 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 139288408 C T FAM135B CCDS6375.2 r.? - - intronic 27 0 0 76 37 48.7 69 39 56.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 3.898983192 1.009485656 3.862346302 4.776703786 1.194175947 4 NA NA 1 NA NA 1 5 NA 1 1 4.04E-64 1 4.97E-71 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 139446237 A G FAM135B CCDS6375.2 r.? - - intronic 38 0 0 81 6 7.4 80 7 8.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.592453298 0.592453298 1 0.743982183 0.743982183 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000368 1 0.00000018 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 139485628 T A FAM135B CCDS6375.2 r.? - - intronic 38 0 0 66 8 12.1 76 10 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.968741204 0.968741204 1 1.115973274 1.115973274 1 NA NA 1 NA NA 1 5 NA 1 1 1.73E-09 1 6.9E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 139523013 C T - - - - - - 26 0 0 81 9 11.1 78 9 11.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.888679947 0.888679947 1 0.972249443 0.972249443 1 NA NA 1 NA NA 1 5 NA 1 1 3.68E-10 1 2.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 139540124 C G - - - - - - 26 0 0 67 19 28.4 58 15 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 2.273739685 1.136869842 2 2.189674833 1.094837416 2 NA NA 1 NA NA 1 5 NA 1 1 3.67E-28 1 7.42E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 139677429 A G COL22A1 CCDS6376.1 r.? - - intronic 34 0 0 68 6 8.8 75 14 18.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.704539057 0.704539057 1 1.580962138 0.790481069 2 NA NA 1 NA NA 1 5 NA 1 1 0.00000131 1 2.57E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 139714724 C A COL22A1 CCDS6376.1 r.? - - intronic 31 0 0 62 7 11.3 68 4 5.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.904692199 0.904692199 1 0.498806236 0.498806236 1 NA NA 1 NA NA 1 5 NA 1 1 3.02E-08 1 0.000394372 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 139758479 C G COL22A1 CCDS6376.1 r.? - - intronic 32 0 0 70 7 10 55 6 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.800612565 0.800612565 1 0.921523385 0.921523385 1 NA NA 1 NA NA 1 5 NA 1 1 7.11E-08 1 0.000000367 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 139923390 C A COL22A1 CCDS6376.1 r.? - - intronic 35 0 0 74 9 12.2 64 5 7.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.976747329 0.976747329 1 0.659438753 0.659438753 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-10 1 0.0000186 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 139925110 C G COL22A1 CCDS6376.1 r.? - - intronic 40 0 0 77 20 26 67 11 16.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 2.081592669 1.040796335 2 1.386512249 1.386512249 1 NA NA 1 NA NA 1 5 NA 1 1 1.07E-28 1 4.85E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 140005319 G A - - - - - - 24 0 0 65 7 10.8 70 9 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.86466157 0.86466157 1 1.090610245 1.090610245 1 NA NA 1 NA NA 1 5 NA 1 1 4.22E-08 1 9.65E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 140053096 A G - - - - - - 43 0 0 80 9 11.2 66 7 10.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.896686073 0.896686073 1 0.896160356 0.896160356 1 NA NA 1 NA NA 1 5 NA 1 1 3.29E-10 1 0.000000047 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 140063102 A G - - - - - - 25 0 0 75 6 8 57 11 19.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.640490052 0.640490052 1 1.631688196 1.631688196 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000234 1 7.29E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 140124873 C A - - - - - - 34 0 0 82 10 12.2 64 6 9.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.976747329 0.976747329 1 0.794708241 0.794708241 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-11 1 0.000000914 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 140187628 T C - 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- - - - - 39 0 0 75 20 26.7 72 17 23.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 2.137635549 1.068817774 2 1.995224944 0.997612472 2 NA NA 1 NA NA 1 5 NA 1 1 5.89E-29 1 7.97E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 140297916 A C - - - - - - 36 0 0 64 5 7.8 79 10 12.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.624477801 0.624477801 1 1.073701559 1.073701559 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000186 1 1.03E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 140594585 G A - - - - - - 38 0 0 72 24 33.3 65 11 16.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 2.666039842 0.931417641 2.862346302 1.428783964 1.428783964 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-37 1 3.41E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 140594586 C G - - - - - - 37 0 0 73 24 32.9 65 11 16.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 2.634015339 0.920229441 2.862346302 1.428783964 1.428783964 1 NA NA 1 NA NA 1 5 NA 1 1 5.58E-37 1 3.41E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 140641512 G T KCNK9 CCDS6377.1 r.? - - intronic 32 0 0 59 6 10.2 76 9 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.816624816 0.816624816 1 0.997612472 0.997612472 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000561 1 2.06E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 140679592 T A KCNK9 CCDS6377.1 r.? - - intronic 32 0 0 92 31 33.7 61 11 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 2.698064344 0.942605841 2.862346302 1.521781737 1.521781737 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-47 1 1.62E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 140949954 T C TRAPPC9 CCDS34946.1 r.? - - intronic 32 0 0 79 7 8.9 26 2 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.712545183 0.712545183 1 0.65098441 0.65098441 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000165 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 140949955 C T TRAPPC9 CCDS34946.1 r.? - - intronic 32 0 0 78 7 9 25 2 8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.720551309 0.720551309 1 0.676347439 0.676347439 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000151 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 141338303 G A TRAPPC9 CCDS34946.1 r.? - - intronic 30 0 0 71 12 16.9 54 6 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 1.353035235 1.353035235 1 0.938432071 0.938432071 1 NA NA 1 NA NA 1 5 NA 1 1 2.38E-15 1 0.000000329 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 141402274 G T TRAPPC9 CCDS34946.1 r.? - - intronic 31 0 0 66 25 37.9 71 29 40.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 3.034321622 1.011440541 3 3.449371938 0.862342984 4 NA NA 1 NA NA 1 5 NA 1 1 2.57E-40 1 1.04E-47 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 141608436 T A EIF2C2 ENST00000220592 r.? - - intronic 25 0 0 75 16 21.3 57 4 7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 1.705304764 0.915675437 1.862346302 0.591804009 0.591804009 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-22 1 0.000199821 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 141827383 A T PTK2 CCDS6381.1 r.? - - intronic 23 0 0 79 8 10.1 58 9 15.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.808618691 0.808618691 1 1.310423163 1.310423163 1 NA NA 1 NA NA 1 5 NA 1 1 7.43E-09 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 142021954 T G - - - - - - 29 0 0 69 16 23.2 66 22 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 1.857421151 0.997355405 1.862346302 2.815296214 0.938432071 3 NA NA 1 NA NA 1 5 NA 1 1 2.27E-22 1 3.52E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 142041308 A C - - - - - - 30 0 0 78 12 15.4 72 10 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 1.23294335 1.23294335 1 1.175153675 1.175153675 1 NA NA 1 NA NA 1 5 NA 1 1 7.82E-15 1 3.95E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 142114126 T A - - - - - - 38 0 0 81 6 7.4 72 4 5.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.592453298 0.592453298 1 0.473443207 0.473443207 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000368 1 0.000490365 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 142165115 C A DENND3 CCDS34947.1 r.? - - intronic 27 0 0 78 6 7.7 63 7 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.616471675 0.616471675 1 0.938432071 0.938432071 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000295 1 3.38E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 142223687 C G SLC45A4 CCDS34948.1 r.? - - intronic 32 0 0 98 25 25.5 58 10 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 2.041562041 1.020781021 2 1.454146993 1.454146993 1 NA NA 1 NA NA 1 5 NA 1 1 2.85E-35 1 4.1E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 142328600 C T - - - - - - 27 0 0 80 7 8.8 70 2 2.9 245 0 0 363 12 3.3 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.704539057 0.704539057 1 0.245175947 0.245175947 1 0.264202146 0.264202146 1 NA NA 1 5 NA 1 1 0.00000018 0.000000441 0.048267597 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 142355216 T A - - - - - - 38 0 0 71 9 12.7 58 7 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 1.016777958 1.016777958 1 1.022975501 1.022975501 1 NA NA 1 NA NA 1 5 NA 1 1 1.1E-10 1 1.88E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 142575618 T A - - - - - - 22 0 0 61 14 23 64 23 35.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 1.8414089 0.988757514 1.862346302 3.035109131 1.011703044 3 NA NA 1 NA NA 1 5 NA 1 1 1.1E-19 1 1.44E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 142631087 A T - - - - - - 35 0 0 77 8 10.4 85 7 8.2 0 0 NA 2 0 0 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.832637068 0.832637068 1 0.693256125 0.693256125 1 0 0 1 NA NA 1 5 NA 1 1 6.05E-09 1 0.000000274 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 143121089 T A - - - - - - 26 0 0 67 21 31.3 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 2.505917329 0.875476642 2.862346302 1.268151448 1.268151448 1 NA NA 1 NA NA 1 5 NA 1 1 4.96E-32 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 143276698 G A - - - - - - 32 0 0 69 20 29 41 17 41.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 2.321776439 1.160888219 2 3.508552339 0.877138085 4 NA NA 1 NA NA 1 5 NA 1 1 8.73E-30 1 1.03E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 143370836 C T TSNARE1 CCDS6384.1 r.? - - intronic 38 0 0 70 16 22.9 43 14 32.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 1.833402774 0.984458568 1.862346302 2.756115813 0.918705271 3 NA NA 1 NA NA 1 5 NA 1 1 2.93E-22 1 4.18E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 143618686 C A BAI1 ENST00000323289 r.? - - intronic 18 0 0 75 10 13.3 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 1.064814712 1.064814712 1 1.834592428 0.917296214 2 NA NA 1 NA NA 1 5 NA 1 1 6.02E-12 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 143667923 G T ENSG00000232495 ENST00000426305 r.? - - intronic 20 0 0 70 10 14.3 61 6 9.8 0 0 NA 3 0 0 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 1.144875968 1.144875968 1 0.828525612 0.828525612 1 0 0 1 NA NA 1 5 NA 1 1 2.95E-12 1 0.000000685 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 143696978 G A ARC CCDS34950.1 r.? - - upstream 16 0 0 66 7 10.6 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.848649319 0.848649319 1 1.183608018 1.183608018 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000047 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 144013995 T A - - - - - - 27 0 0 87 39 44.8 67 23 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 3.586744292 0.928643889 3.862346302 2.899839644 0.966613215 3 NA NA 1 NA NA 1 5 NA 1 1 1.2E-65 1 5.12E-36 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 144318370 C T - - - - - - 34 0 0 72 15 20.8 57 9 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 4 4 1 1 1 1 NA NA NA NA NA NA 1.428642166 1.428642166 1 1.177786192 1.177786192 1 NA NA 1 NA NA 1 5 NA 1 1 2.7E-20 1 1.42E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 144322003 C T - - - - - - 29 0 0 85 9 10.6 56 1 1.8 2 0 0 0 0 NA 0 0 NA TRUE FALSE 5 5 4 4 1 1 1 1 NA NA NA NA NA NA 0.728058027 0.728058027 1 0.134178174 0.134178174 1 NA NA 1 NA NA 1 3 NA 1 1 5.71E-10 1 0.244746891 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 144347579 A C ZFP41 CCDS6397.1 r.? - - downstream 20 0 0 76 13 17.1 61 6 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 4 4 1 1 1 1 NA NA NA NA NA NA 1.174508704 1.174508704 1 0.730525612 0.730525612 1 NA NA 1 NA NA 1 5 NA 1 1 1.39E-16 1 0.000000685 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 144351290 G T GLI4 CCDS6398.1 r.? - - intronic 33 0 0 64 6 9.4 45 4 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 4 4 1 1 1 1 NA NA NA NA NA NA 0.645636364 0.645636364 1 0.663436526 0.663436526 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000914 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 144665804 C T EEF1D CCDS6404.1 r.? - - intronic 14 0 0 54 9 16.7 49 6 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 4 4 1 1 1 1 NA NA NA NA NA NA 1.147034816 1.147034816 1 0.909429844 0.909429844 1 NA NA 1 NA NA 1 5 NA 1 1 8.48E-12 1 0.000000182 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 144716886 G T ZNF623 CCDS47931.1 r.? - - upstream 34 0 0 77 12 15.6 74 10 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 4 4 1 1 1 1 NA NA NA NA NA NA 1.071481625 1.071481625 1 1.006336303 1.006336303 1 NA NA 1 NA NA 1 5 NA 1 1 6.64E-15 1 5.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 144719287 C G ZNF623 CCDS47931.1 r.? - - intronic 29 0 0 71 10 14.1 62 5 8.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 4 4 1 1 1 1 NA NA NA NA NA NA 0.968454545 0.968454545 1 0.603801782 0.603801782 1 NA NA 1 NA NA 1 5 NA 1 1 3.42E-12 1 0.000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 144801754 G T FAM83H CCDS6410.2 r.? - - downstream 24 0 0 73 15 20.5 34 3 8.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 4 4 1 1 1 1 NA NA NA NA NA NA 1.40803675 1.40803675 1 0.655982183 0.655982183 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-20 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 145130496 G C EXOSC4 CCDS6414.1 r.? - - upstream 28 0 0 65 8 12.3 59 7 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 4 4 1 1 1 1 NA NA NA NA NA NA 0.84482205 0.84482205 1 0.887066815 0.887066815 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-09 1 2.12E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 145843017 C T - - - - - - 18 0 0 54 7 13 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 4 4 1 1 1 1 NA NA NA NA NA NA 0.892901354 0.892901354 1 0.864703786 0.864703786 1 NA NA 1 NA NA 1 5 NA 1 1 1.13E-08 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 145940003 C T - - - - - - 30 0 0 63 9 14.3 59 6 10.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 4 4 1 1 1 1 NA NA NA NA NA NA 0.982191489 0.982191489 1 0.760342984 0.760342984 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-11 1 0.000000561 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 145999199 T C ZNF34 CCDS47945.1 r.1237a>g c.1135A>G p.I379V missense 29 0 0 77 23 29.9 52 12 23.1 222 0 0 191 45 23.6 57 35 61.4 TRUE TRUE 5 5 4 4 1 1 1 1 NA NA NA NA NA NA 2.053673114 1.026836557 2 1.721953229 0.860976615 2 1.620959381 0.810479691 2 4.576966592 1.144241648 4 5 4 1 1 2.24E-34 1.83E-60 4.19E-17 9.12E-66 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 8 146047447 C T ENSG00000204752 ENST00000377296 r.? - - intronic 24 0 0 76 10 13.2 51 7 13.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 4 4 1 1 1 1 NA NA NA NA NA NA 0.906638298 0.906638298 1 1.021244989 1.021244989 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-12 1 7.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 146062323 C G ZNF7 CCDS6435.1 r.? - - intronic 26 0 0 75 23 30.7 53 13 24.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 4 4 1 1 1 1 NA NA NA NA NA NA 2.10862089 1.054310445 2 1.826314031 0.913157016 2 NA NA 1 NA NA 1 5 NA 1 1 1.1E-34 1 8.53E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 219154 C G C9orf66 CCDS6439.1 r.? - - upstream 44 0 0 45 18 40 40 14 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.547388781 0.773694391 2 1.559020045 0.779510022 2 NA NA 1 NA NA 1 5 NA 1 1 5.76E-30 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 1462727 C A - - - - - - 22 0 0 38 21 55.3 39 19 48.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.13926499 1.069632495 2 2.169265033 1.084632517 2 NA NA 1 NA NA 1 5 NA 1 1 1.27E-38 1 1.2E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 1499415 G T - - - - - - 35 0 0 44 22 50 38 18 47.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.934235977 0.967117988 2 2.111358575 1.055679287 2 NA NA 1 NA NA 1 5 NA 1 1 4.51E-39 1 1.16E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 1802993 C T - - - - - - 42 0 0 33 13 39.4 36 17 47.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.52417795 1.52417795 1 2.102449889 1.051224944 2 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 6E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 1815003 A T - - - - - - 39 0 0 34 18 52.9 44 22 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.046421663 1.023210832 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 7.79E-33 1 4.51E-39 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 2007294 A G - - - - - - 27 0 0 30 20 66.7 24 14 58.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.580270793 1.290135397 2 2.59688196 1.29844098 2 NA NA 1 NA NA 1 5 NA 1 1 2.73E-39 1 1.14E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 2321967 C G - - - - - - 33 0 0 47 20 42.6 42 14 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.647969052 0.823984526 2 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 8.18E-34 1 2.83E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 2899329 G T - - - - - - 36 0 0 36 18 50 34 15 44.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.934235977 0.967117988 2 1.964365256 0.982182628 2 NA NA 1 NA NA 1 5 NA 1 1 3.18E-32 1 5.18E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 3018906 A C - - - - - - 22 0 0 36 8 22.2 27 3 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 3116284 G A - - - - - - 34 0 0 35 19 54.3 48 23 47.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.100580271 1.050290135 2 2.13363029 1.066815145 2 NA NA 1 NA NA 1 5 NA 1 1 7.18E-35 1 3.27E-40 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 4050964 T C GLIS3 CCDS6451.1 r.? - - intronic 39 0 0 43 9 20.9 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.808510638 0.808510638 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 4546699 G C SLC1A1 CCDS6452.1 r.? - - intronic 33 0 0 38 18 47.4 35 17 48.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.833655706 0.916827853 2 2.16481069 1.082405345 2 NA NA 1 NA NA 1 5 NA 1 1 1.16E-31 1 3.18E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 5148039 T A - - - - - - 40 0 0 42 9 21.4 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.011135857 1.011135857 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 5799265 G A ERMP1 CCDS34983.1 r.? - - intronic 51 0 0 40 19 47.5 51 24 47.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.837524178 0.918762089 2 2.097995546 1.048997773 2 NA NA 1 NA NA 1 5 NA 1 1 2.27E-33 1 1.2E-41 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 6099663 G A - - - - - - 32 0 0 33 15 45.5 36 17 47.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.760154739 0.880077369 2 2.102449889 1.051224944 2 NA NA 1 NA NA 1 5 NA 1 1 2.91E-26 1 6E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 6633180 G C GLDC CCDS34987.1 r.? - - intronic 35 0 0 47 26 55.3 28 14 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.13926499 1.069632495 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 1.69E-47 1 2.29E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 6946948 C G KDM4C CCDS6471.1 r.? - - intronic 35 0 0 36 20 55.6 47 20 42.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.150870406 1.075435203 2 1.897550111 0.948775056 2 NA NA 1 NA NA 1 5 NA 1 1 6.46E-37 1 8.18E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 7129532 C G KDM4C CCDS6471.1 r.? - - intronic 24 0 0 36 9 25 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 7238448 G C - - - - - - 43 0 0 37 20 54.1 36 15 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.092843327 1.046421663 2 1.857461024 0.928730512 2 NA NA 1 NA NA 1 5 NA 1 1 1.4E-36 1 1.54E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 7949935 G A - - - - - - 30 0 0 49 28 57.1 51 25 49 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA 2 NA 2 NA 0 NA 1 NA NA NA NA NA NA NA NA 1 2.182628062 1.091314031 2 NA NA 1 NA NA 1 NA NA 1 1 1.31E-51 1 6.52E-44 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 8060258 A T - - - - - - 28 0 0 35 16 45.7 43 16 37.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 2 1 2 0 0 1 1 NA NA NA NA NA NA 1.310891683 1.310891683 1 1.65701559 0.828507795 2 NA NA 0 NA NA 1 5 NA 1 1 5.66E-28 1 3.56E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 8236472 T C - - - - - - 37 0 0 25 12 48 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.376866538 1.376866538 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-21 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 8366148 C T PTPRD CCDS43786.1 r.? - - intronic 34 0 0 30 11 36.7 20 5 25 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 0.863585746 0.863585746 1 NA NA 1 0 0 1 5 NA 1 1 2.44E-18 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 8386729 A G PTPRD CCDS43786.1 r.? - - intronic 43 0 0 38 15 39.5 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.133046422 1.133046422 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-25 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 8873976 T C PTPRD CCDS43786.1 r.? - - intronic 32 0 0 29 10 34.5 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 9096375 A T PTPRD CCDS43786.1 r.? - - intronic 38 0 0 24 8 33.3 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.780681514 0.780681514 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-13 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 9649642 C G PTPRD CCDS43786.1 r.? - - intronic 43 0 0 29 10 34.5 41 17 41.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 1.433552339 1.433552339 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 1.03E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 10360533 A G PTPRD CCDS43786.1 r.? - - intronic 41 0 0 20 11 55 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.577659574 1.577659574 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 7.87E-21 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 10382361 T G PTPRD CCDS43786.1 r.? - - intronic 40 0 0 28 9 32.1 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.920779497 0.920779497 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 10567430 T A PTPRD CCDS43786.1 r.? - - intronic 41 0 0 36 5 13.9 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.398717602 0.398717602 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000104 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 10665708 G T - - - - - - 26 0 0 29 11 37.9 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 10796344 T C - - - - - - 29 0 0 28 8 28.6 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 10861240 C G - - - - - - 36 0 0 25 8 32 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 0.711594655 0.711594655 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 10896916 A G - - - - - - 33 0 0 27 7 25.9 21 9 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.742934236 0.742934236 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 6.36E-11 1 5.44E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 11717443 C A - - - - - - 30 0 0 36 12 33.3 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.839405345 0.839405345 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 11760601 C A - - - - - - 46 0 0 27 11 40.7 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.167468085 1.167468085 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-19 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 11949550 G T - - - - - - 36 0 0 22 9 40.9 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.173205029 1.173205029 1 0.594146993 0.594146993 1 NA NA 1 NA NA 1 5 NA 1 1 9.16E-16 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 11951575 C T - - - - - - 41 0 0 33 8 24.2 18 8 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.694170213 0.694170213 1 1.533728285 1.533728285 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 1.63E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 12115723 C A - - - - - - 29 0 0 26 8 30.8 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.883489362 0.883489362 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 5.63E-13 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 12400691 A C - - - - - - 37 0 0 30 10 33.3 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 12568691 G T - - - - - - 32 0 0 30 15 50 29 12 41.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.430097996 1.430097996 1 NA NA 1 NA NA 1 5 NA 1 1 4.41E-27 1 1.17E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 12577375 A G - - - - - - 43 0 0 31 13 41.9 22 5 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 0.784135857 0.784135857 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 7.67E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 13837065 G C - - - - - - 44 0 0 28 6 21.4 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.613852998 0.613852998 1 1.046665924 1.046665924 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 13837086 T C - - - - - - 48 0 0 28 6 21.4 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.613852998 0.613852998 1 1.046665924 1.046665924 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 14066048 A T - - - - - - 42 0 0 31 8 25.8 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.740065764 0.740065764 1 1.119207127 1.119207127 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 16092503 T C - - - - - - 24 0 0 22 10 45.5 26 5 19.2 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.305154739 1.305154739 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 5.98E-18 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 16879109 C G - - - - - - 33 0 0 32 11 34.4 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.986754352 0.986754352 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 16892851 G C - - - - - - 21 0 0 26 13 50 15 4 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-23 1 0.000000816 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 17010073 G T - - - - - - 37 0 0 36 18 50 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-32 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 17112140 C T - - - - - - 30 0 0 24 7 29.2 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.83759381 0.83759381 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 17854526 C T - - - - - - 39 0 0 26 14 53.8 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.543237911 1.543237911 1 1.115752784 1.115752784 1 NA NA 1 NA NA 1 5 NA 1 1 5.57E-26 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 17876179 A T - - - - - - 28 0 0 25 13 52 30 14 46.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.491605416 1.491605416 1 1.613178174 1.613178174 1 NA NA 1 NA NA 1 5 NA 1 1 6E-24 1 8.24E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 17961620 A C - - - - - - 35 0 0 34 11 32.4 22 2 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.929384913 0.929384913 1 0.314345212 0.314345212 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 0.005403392 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 18584995 G C ADAMTSL1 CCDS47954.1 r.? - - intronic 32 0 0 34 7 20.6 16 5 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.590905222 0.590905222 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 0.000000013 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 18718707 C T ADAMTSL1 CCDS47954.1 r.? - - intronic 21 0 0 22 7 31.8 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.912174081 0.912174081 1 1.046665924 1.046665924 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 19545215 T C SLC24A2 CCDS6493.1 r.? - - intronic 36 0 0 26 12 46.2 30 11 36.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.325234043 1.325234043 1 1.267743875 1.267743875 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-21 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 20050407 G A - - - - - - 20 0 0 19 5 26.3 25 11 44 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.754408124 0.754408124 1 1.519910913 1.519910913 1 NA NA 1 NA NA 1 5 NA 1 1 3.43E-08 1 2.04E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 20123948 A C - - - - - - 25 0 0 29 8 27.6 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 20685407 T G KIAA1797 CCDS34993.1 r.? - - intronic 26 0 0 34 13 38.2 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.095756286 1.095756286 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 21315355 T C - - - - - - 35 0 0 26 10 38.5 35 13 37.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.104361702 1.104361702 1 1.281561247 1.281561247 1 NA NA 1 NA NA 1 5 NA 1 1 4.82E-17 1 1.63E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 21716225 C A - - - - - - 25 0 0 37 13 35.1 28 11 39.3 2 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.006833656 1.006833656 1 1.357556793 1.357556793 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 21956555 C T - - - - - - 28 0 0 28 12 42.9 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 22282802 A T - - - - - - 45 0 0 33 10 30.3 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.869147002 0.869147002 1 0.777227171 0.777227171 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 22467038 G T - - - - - - 37 0 0 40 10 25 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.050120267 1.050120267 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 22647491 G A - - - - - - 23 0 0 25 8 32 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 22696824 C A - - - - - - 36 0 0 35 13 37.1 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.064203095 1.064203095 1 1.119207127 1.119207127 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 22796943 A T - - - - - - 51 0 0 29 11 37.9 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 1.036302895 1.036302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 22840339 A C - - - - - - 42 0 0 32 10 31.2 27 12 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.89496325 0.89496325 1 1.533728285 1.533728285 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 3.96E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 22840855 A G - - - - - - 38 0 0 29 8 27.6 25 9 36 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 1.243563474 1.243563474 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 3.71E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 23019586 C G - - - - - - 32 0 0 32 7 21.9 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.628195358 0.628195358 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 23964022 T C - - - - - - 39 0 0 31 11 35.5 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 24127646 A T - - - - - - 38 0 0 31 13 41.9 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.201889749 1.201889749 1 0.594146993 0.594146993 1 NA NA 1 NA NA 1 5 NA 1 1 2.32E-22 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 24275237 C A - - - - - - 44 0 0 38 13 34.2 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.981017408 0.981017408 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 25529643 G T - - - - - - 30 0 0 35 11 31.4 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.900700193 0.900700193 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 25878760 T A - - - - - - 31 0 0 32 16 50 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 8.51E-29 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 26049337 T G - - - - - - 44 0 0 31 9 29 33 13 39.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.831856867 0.831856867 1 1.361011136 1.361011136 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 26615292 T A - - - - - - 45 0 0 33 8 24.2 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.694170213 0.694170213 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 27160823 C G TEK CCDS6519.1 r.? - - intronic 34 0 0 25 7 28 30 2 6.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 0.23144098 0.23144098 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 27187693 A C TEK CCDS6519.1 r.? - - intronic 38 0 0 30 5 16.7 32 1 3.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.479034816 0.479034816 1 0.107084633 0.107084633 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000401 1 0.14819814 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 27313388 G A - - - - - - 38 0 0 26 9 34.6 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 1.195202673 1.195202673 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 28796752 T A - - - - - - 37 0 0 28 10 35.7 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 1.108844098 1.108844098 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 28847055 G C - - - - - - 33 0 0 25 11 44 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.26212766 1.26212766 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 2.04E-19 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 29061309 C A - - - - - - 25 0 0 31 12 38.7 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.110098646 1.110098646 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 5 NA 1 1 3.16E-20 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 29872344 C G - - - - - - 31 0 0 34 6 17.6 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.504851064 0.504851064 1 1.046665924 1.046665924 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-08 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 29990381 C G - - - - - - 35 0 0 19 6 31.6 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.906437137 0.906437137 1 0.525060134 0.525060134 1 NA NA 1 NA NA 1 5 NA 1 1 4.01E-10 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 30055553 C A - - - - - - 55 0 0 25 8 32 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 0.894674833 0.894674833 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 30055733 C A - - - - - - 48 0 0 20 13 65 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.86450677 1.86450677 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 9.16E-26 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 30145152 G T - - - - - - 29 0 0 19 7 36.8 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.055597679 1.055597679 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-12 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 30546731 G A - - - - - - 45 0 0 28 10 35.7 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.024044487 1.024044487 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 30759120 C A - - - - - - 31 0 0 46 24 52.2 16 5 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.49734236 1.49734236 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 4.23E-43 1 0.000000013 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 31287969 A G - - - - - - 38 0 0 39 16 41 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.176073501 1.176073501 1 0.780681514 0.780681514 1 NA NA 1 NA NA 1 5 NA 1 1 5.16E-27 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 31290031 G A - - - - - - 47 0 0 33 17 51.5 26 2 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.477263056 1.477263056 1 0.26598441 0.26598441 1 NA NA 1 NA NA 1 5 NA 1 1 8.25E-31 1 0.007502227 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 31617303 G T - - - - - - 38 0 0 30 11 36.7 14 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 31636400 G T - - - - - - 47 0 0 36 17 47.2 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.353918762 1.353918762 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 6E-30 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 31965420 G A - - - - - - 34 0 0 21 10 47.6 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.36539265 1.36539265 1 1.057028953 1.057028953 1 NA NA 1 NA NA 1 5 NA 1 1 3.28E-18 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 32063100 G A - - - - - - 41 0 0 31 11 35.5 36 14 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 1.343739421 1.343739421 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 32613031 G A - - - - - - 51 0 0 31 8 25.8 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.740065764 0.740065764 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 33440763 T A AQP3 CCDS6542.1 r.? - - downstream 33 0 0 33 13 39.4 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.13017795 1.13017795 1 0.552694878 0.552694878 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 33541412 T C ANKRD18B ENST00000290943 r.? - - intronic 42 0 0 27 5 18.5 29 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.530667311 0.530667311 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000023 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 34549275 A G CNTFR CCDS6558.1 r.? - - downstream 33 0 0 45 12 26.7 39 12 30.8 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 2 NA 1 NA 1 NA 1 NA NA NA NA NA NA NA 1.032882012 1.032882012 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 6.03E-18 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 35023303 C G C9orf131 ENST00000378745 r.? - - upstream 27 0 0 37 8 21.6 42 3 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.316258352 0.316258352 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 0.001240292 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 35229251 C A UNC13B CCDS6579.1 r.? - - intronic 31 0 0 45 14 31.1 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.203094778 1.203094778 1 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 35583866 G A - - - - - - 45 0 0 36 7 19.4 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 35658044 T G C9orf100 CCDS6584.2 r.? - - downstream 30 0 0 38 12 31.6 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 1.162583519 1.162583519 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 35806109 A G NPR2 CCDS6590.1 r.2506a>g c.2251A>G p.S751G missense 31 0 0 34 8 23.5 35 9 25.7 269 0 0 215 51 23.7 43 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 1.144766147 1.144766147 1 0.916827853 0.916827853 1 0 0 1 5 5 1 1 6.32E-12 1.8E-68 1.23E-13 1 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9776b 9 36493767 G T - - - - - - 35 0 0 35 8 22.9 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 36718763 C T - - - - - - 35 0 0 36 12 33.3 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 37107441 G C - - - - - - 31 0 0 34 13 38.2 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.477756286 1.477756286 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 37174229 C T ZCCHC7 CCDS6608.2 r.? - - intronic 34 0 0 40 12 30 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 37445184 G A ZBTB5 CCDS6610.1 r.? - - intronic 34 0 0 37 8 21.6 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 37554974 T C FBXO10 CCDS47966.1 r.? - - intronic 44 0 0 29 6 20.7 35 15 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.800773694 0.800773694 1 1.91091314 1.91091314 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 9.02E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 38002679 A T SHB CCDS43806.1 r.? - - intronic 44 0 0 42 7 16.7 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 40401500 A G - - - - - - 18 0 0 24 6 25 19 4 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 1.95E-09 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 40593574 G C - - - - - - 17 0 0 22 5 22.7 14 4 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 7.67E-08 1 0.000000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 43626949 T A FAM75A6 CCDS47973.1 r.1767a>u c.1738A>T p.I580F missense 18 0 0 26 11 42.3 18 6 33.3 114 0 0 45 24 53.3 2 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.636363636 1.636363636 1 1.483296214 1.483296214 1 2.061895551 2.061895551 1 0 0 1 5 5 1 1 3.52E-19 2.03E-43 2.75E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 44082984 C T - - - - - - 21 0 0 20 5 25 16 5 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 4.55E-08 1 0.000000013 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 44465307 C A - - - - - - 30 0 0 41 7 17.1 42 3 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 0.316258352 0.316258352 1 NA NA 1 NA NA 1 4 NA 1 1 1.51E-09 1 0.001240292 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 44831360 T A - - - - - - 20 0 0 28 18 64.3 16 6 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 2.487427466 2.487427466 1 1.670378619 1.670378619 1 NA NA 1 NA NA 1 5 NA 1 1 4.77E-35 1 1.2E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 45119125 T G - - - - - - 26 0 0 37 8 21.6 31 2 6.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.289532294 0.289532294 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 0.010558179 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 47205161 G A - - - - - - 41 0 0 59 12 20.3 43 3 7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.785299807 0.785299807 1 0.311804009 0.311804009 1 NA NA 1 NA NA 1 5 NA 1 1 2.2E-16 1 0.001328364 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 66531068 G A - - - - - - 53 0 0 73 12 16.4 66 8 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.6344294 0.6344294 1 0.538975501 0.538975501 1 NA NA 1 NA NA 1 5 NA 1 1 3.39E-15 1 1.73E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 66669429 C A - - - - - - 41 0 0 40 11 27.5 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 66826820 G C - - - - - - 43 0 0 77 6 7.8 64 8 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.301740812 0.301740812 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 2 NA 1 1 0.00000273 1 1.35E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 68209686 T A - - - - - - 37 0 0 32 10 31.2 19 4 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 68342592 C A - - - - - - 72 0 0 79 13 16.5 69 7 10.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.638297872 0.638297872 1 0.449888641 0.449888641 1 NA NA 1 NA NA 1 4 NA 1 1 2.37E-16 1 6.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 68377638 G C - - - - - - 36 0 0 53 14 26.4 4 1 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.021276596 1.021276596 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.22E-20 1 0.019850499 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 68817530 T A - - - - - - 23 0 0 25 5 20 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.318485523 1.318485523 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000153 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 71153195 T A C9orf71 CCDS35040.1 r.? - - intronic 23 0 0 55 11 20 28 5 17.9 2 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 0.976327394 0.976327394 1 NA NA 1 NA NA 1 5 NA 1 1 4.77E-15 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 71249784 C T - - - - - - 25 0 0 47 8 17 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.827640232 0.827640232 1 0.801788419 0.801788419 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-10 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 71948597 C T FAM189A2 CCDS6629.1 r.? - - intronic 27 0 0 59 14 23.7 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.153827853 1.153827853 1 0.736336303 0.736336303 1 NA NA 1 NA NA 1 5 NA 1 1 6.58E-20 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 72141454 C T APBA1 CCDS6630.1 r.? - - intronic 39 0 0 55 8 14.5 48 13 27.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.705928433 0.705928433 1 1.478126949 1.478126949 1 NA NA 1 NA NA 1 5 NA 1 1 3.86E-10 1 2E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 72449549 T C C9orf135 CCDS35041.1 r.? - - intronic 40 0 0 43 9 20.9 49 12 24.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.017510638 1.017510638 1 1.336314031 1.336314031 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 73021375 C T KLF9 CCDS6633.1 r.? - - intronic 21 0 0 52 9 17.3 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.842245648 0.842245648 1 1.036325167 1.036325167 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-12 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 73125071 G T - - - - - - 45 0 0 51 10 19.6 62 12 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.954220503 0.954220503 1 1.058142539 1.058142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-13 1 4.19E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 73125073 T C - - - - - - 45 0 0 52 11 21.2 58 11 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.032116054 1.032116054 1 1.036325167 1.036325167 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-15 1 8.96E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 73279929 C A TRPM3 CCDS43835.1 r.? - - intronic 34 0 0 55 6 10.9 31 1 3.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.530663443 0.530663443 1 0.174538976 0.174538976 1 NA NA 1 NA NA 1 3 NA 1 1 0.000000367 1 0.143917729 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 73393483 A G TRPM3 CCDS43835.1 r.? - - intronic 50 0 0 58 10 17.2 52 9 17.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.837377176 0.837377176 1 0.943601336 0.943601336 1 NA NA 1 NA NA 1 5 NA 1 1 4.1E-13 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 73488313 A G TRPM3 CCDS43835.1 r.? - - intronic 31 0 0 64 11 17.2 56 7 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.837377176 0.837377176 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 5 NA 1 1 2.85E-14 1 1.46E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 73527384 G T TRPM3 CCDS43835.1 r.? - - intronic 27 0 0 64 16 25 52 8 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.217117988 1.217117988 1 0.83996882 0.83996882 1 NA NA 1 NA NA 1 5 NA 1 1 5.94E-23 1 2.42E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 73586333 C T TRPM3 CCDS43835.1 r.? - - intronic 35 0 0 55 10 18.2 54 13 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.886061896 0.886061896 1 1.314496659 1.314496659 1 NA NA 1 NA NA 1 5 NA 1 1 2.33E-13 1 1.12E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 73653384 C T TRPM3 CCDS43835.1 r.? - - intronic 29 0 0 40 8 20 49 9 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.973694391 0.973694391 1 1.003599109 1.003599109 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 73872879 A G TRPM3 ENST00000357533 r.? - - intronic 39 0 0 48 10 20.8 57 15 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.012642166 1.012642166 1 1.434492205 1.434492205 1 NA NA 1 NA NA 1 5 NA 1 1 5.37E-14 1 5.53E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 73964496 G A TRPM3 ENST00000357533 r.? - - intronic 49 0 0 56 6 10.7 47 7 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.520926499 0.520926499 1 0.812697105 0.812697105 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000409 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 73992680 A G TRPM3 ENST00000357533 r.? - - intronic 25 0 0 64 6 9.4 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.457636364 0.457636364 1 0.867240535 0.867240535 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000914 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 73996980 G T TRPM3 ENST00000357533 r.? - - intronic 27 0 0 44 13 29.5 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.436199226 1.436199226 1 0.976327394 0.976327394 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 74223487 C T - - - - - - 31 0 0 45 8 17.8 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.866588008 0.866588008 1 1.178138085 1.178138085 1 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 74652530 C A - - - - - - 33 0 0 45 10 22.2 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.523385301 1.523385301 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 75076952 A C - - - - - - 34 0 0 31 6 19.4 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-08 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 75159309 T A TMC1 CCDS6643.1 r.? - - intronic 26 0 0 37 6 16.2 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.626692456 0.626692456 1 0.712694878 0.712694878 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-08 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 75335877 C A TMC1 CCDS6643.1 r.? - - intronic 27 0 0 40 6 15 38 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.580270793 0.580270793 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.18E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 75448603 G C TMC1 CCDS6643.1 r.? - - intronic 53 0 0 33 9 27.3 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.930957684 0.930957684 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 75674123 G C ALDH1A1 ENST00000419959 r.? - - intronic 40 1 2.5 44 11 25 26 1 3.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.169265033 0.169265033 1 NA NA 1 NA NA 1 5 NA 0.181679879 1 3.22E-16 1 0.122190858 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 75691500 C G ALDH1A1 ENST00000419959 r.? - - intronic 34 0 0 30 7 23.3 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 75923381 G T - - - - - - 40 0 0 32 8 25 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.563474388 1.563474388 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 76045111 C G - - - - - - 41 0 0 39 13 33.3 26 11 42.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.884187082 1.884187082 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 3.52E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 76178489 A G - - - - - - 44 0 0 30 7 23.3 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 76201222 G T - - - - - - 28 0 0 43 10 23.3 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 76310715 G T - - - - - - 37 0 0 32 8 25 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 76496020 C A - - - - - - 38 0 0 32 7 21.9 25 9 36 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.847195358 0.847195358 1 1.603563474 1.603563474 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 3.71E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 76500129 C A - - - - - - 34 0 0 42 6 14.3 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 7.02E-08 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 76535641 C A - - - - - - 35 0 0 37 10 27 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 76581105 T G - - - - - - 28 0 0 41 13 31.7 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 76790864 A T - - - - - - 38 0 0 41 9 22 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 77070811 T G - - - - - - 47 0 0 51 13 25.5 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 4.87E-19 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 77120320 G A RORB CCDS6646.1 r.? - - intronic 40 0 0 30 10 33.3 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.53674833 1.53674833 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 77154701 G A RORB CCDS6646.1 r.? - - intronic 30 0 0 36 12 33.3 49 13 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 2.71E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 77163866 T A RORB CCDS6646.1 r.? - - intronic 42 0 0 32 10 31.2 50 12 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 2.49E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 77182188 C A RORB CCDS6646.1 r.? - - intronic 37 0 0 39 11 28.2 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 77284943 G T RORB CCDS6646.1 r.? - - intronic 37 0 0 35 9 25.7 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 77306395 A T RORB CCDS6646.1 r.? - - downstream 31 0 0 39 5 12.8 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.49516441 0.49516441 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000156 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 77984427 C G - - - - - - 39 0 0 33 5 15.2 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.588007737 0.588007737 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000066 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 78294890 A G - - - - - - 25 0 0 33 8 24.2 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 78729629 G T PCSK5 CCDS6652.1 r.? - - intronic 34 0 0 40 14 35 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.353965184 1.353965184 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-22 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 78781949 G A PCSK5 CCDS6652.1 r.? - - intronic 33 0 0 42 13 31 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.72E-20 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 78927164 C T PCSK5 ENST00000376754 r.? - - intronic 39 0 0 55 10 18.2 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 2.33E-13 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 79275302 C T PRUNE2 CCDS47982.1 r.? - - intronic 29 0 0 56 9 16.1 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.622823985 0.622823985 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-11 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 79420447 G T PRUNE2 CCDS47982.1 r.? - - intronic 40 0 0 43 7 16.3 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.630560928 0.630560928 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 2.15E-09 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 79628479 A G - - - - - - 38 0 0 38 8 21.1 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 79710429 C A - - - - - - 29 0 0 48 15 31.2 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 2.86E-23 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 79892896 T C VPS13A CCDS6655.1 r.? - - intronic 37 0 0 45 13 28.9 30 3 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 7.68E-20 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 80090043 C A GNA14 CCDS6657.1 r.? - - intronic 36 0 0 46 11 23.9 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.924564797 0.924564797 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 5.55E-16 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 80555066 G C GNAQ CCDS6658.1 r.? - - intronic 28 0 0 30 14 46.7 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.806576402 1.806576402 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 8.24E-25 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 80848266 C A CEP78 CCDS47984.1 r.? - - upstream 28 0 0 40 10 25 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 81759850 A T - - - - - - 34 0 0 33 9 27.3 52 11 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 81890889 T A - - - - - - 38 0 0 36 6 16.7 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.948775056 0.948775056 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 82073081 T A - - - - - - 36 0 0 59 17 28.8 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.114119923 1.114119923 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 1.74E-25 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 82116973 T A - - - - - - 46 0 0 40 8 20 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 82853688 C A - - - - - - 28 0 0 45 10 22.2 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 82974602 G A - - - - - - 34 0 0 34 9 26.5 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 82992161 C A - - - - - - 46 0 0 32 8 25 30 12 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.781737194 1.781737194 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 1.94E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 83023791 G T - - - - - - 41 0 0 52 11 21.2 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 0.948775056 0.948775056 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-15 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 83075967 G A - - - - - - 32 0 0 32 10 31.2 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 83288548 C A - - - - - - 36 0 0 37 9 24.3 24 2 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 83434846 G C - - - - - - 21 0 0 34 11 32.4 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 84092391 C G - - - - - - 41 0 0 35 5 14.3 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 84247134 G A TLE1 CCDS6661.1 r.? - - intronic 21 0 0 33 8 24.2 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 84412900 G A - - - - - - 28 0 0 31 10 32.3 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 84687906 C G - - - - - - 29 0 0 40 8 20 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 85272534 G T - - - - - - 40 0 0 38 7 18.4 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 85440105 C A - - - - - - 28 0 0 33 6 18.2 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 1.527839644 1.527839644 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 85513620 G T - - - - - - 29 0 0 39 14 35.9 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.388781431 1.388781431 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 85630957 A T RASEF CCDS6662.1 r.? - - intronic 27 0 0 34 6 17.6 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 0.85077951 0.85077951 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-08 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 85793508 C G - - - - - - 38 0 0 31 7 22.6 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 86199608 G C - - - - - - 42 0 0 38 12 31.6 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 86240770 G A C9orf103 CCDS35048.1 r.? - - intronic 30 0 0 28 10 35.7 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.381044487 1.381044487 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 86333567 T A - - - - - - 25 0 0 40 14 35 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.353965184 1.353965184 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-22 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 86526753 A C KIF27 CCDS6665.1 r.? - - intronic 25 0 0 34 10 29.4 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 86826860 A C - - - - - - 38 0 0 39 7 17.9 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 87011402 T C - - - - - - 49 0 0 38 16 42.1 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.628626692 1.628626692 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 3.06E-27 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 87035740 T A - - - - - - 27 0 0 43 12 27.9 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 87155755 T A - - - - - - 41 0 0 46 11 23.9 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.924564797 0.924564797 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 5.55E-16 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 87244950 T G - - - - - - 33 0 0 50 12 24 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.928433269 0.928433269 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 2.49E-17 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 87275613 A T - - - - - - 29 0 0 45 14 31.1 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.203094778 1.203094778 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 87655400 A G - - - - - - 47 0 0 37 8 21.6 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 87694751 T C - - - - - - 36 0 0 35 9 25.7 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 87694753 G A - - - - - - 37 0 0 40 11 27.5 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 88165404 A T AGTPBP1 CCDS6672.1 r.? - - intronic 41 0 0 41 8 19.5 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.754352031 0.754352031 1 1.425389755 1.425389755 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 88830905 C G C9orf153 ENST00000395818 r.? - - downstream 36 0 0 31 8 25.8 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 0.779510022 0.779510022 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 88867483 C A C9orf153 CCDS35055.1 r.? - - intronic 38 0 0 46 8 17.4 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.67311412 0.67311412 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-11 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 88877929 C A ISCA1 CCDS35056.1 r.? - - downstream 28 0 0 51 10 19.6 35 14 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 1.781737194 1.781737194 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-13 1 1.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 89849733 C A - - - - - - 18 0 0 41 11 26.8 28 2 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0.316258352 0.316258352 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 89932303 T A - - - - - - 31 0 0 39 12 30.8 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 90056045 C T - - - - - - 15 0 0 46 13 28.3 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.094777563 1.094777563 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 1.07E-19 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 90696144 C T - - - - - - 29 0 0 36 9 25 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 90843368 C A - - - - - - 25 0 0 29 8 27.6 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 91148757 A G NXNL2 CCDS6679.1 r.? - - upstream 25 0 0 32 10 31.2 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 91290461 C A - - - - - - 16 0 0 42 16 38.1 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.473887814 1.473887814 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 2.25E-26 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 91748118 G C SHC3 CCDS6681.1 r.? - - intronic 32 0 0 41 12 29.3 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 0.516703786 0.516703786 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 91974768 C T SEMA4D CCDS47991.1 r.? - - downstream 21 0 0 36 10 27.8 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 92055505 C G SEMA4D CCDS6685.1 r.? - - intronic 18 0 0 43 10 23.3 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 93049699 A G - - - - - - 24 0 0 36 15 41.7 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.613152805 1.613152805 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-25 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 93188549 G A - - - - - - 32 0 0 44 12 27.3 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 93188553 C A - - - - - - 34 0 0 45 12 26.7 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 6.03E-18 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 93413987 C T - - - - - - 40 0 0 34 11 32.4 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 93675514 G T - - - - - - 36 0 0 39 11 28.2 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 93737194 G C - - - - - - 23 0 0 37 6 16.2 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.626692456 0.626692456 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-08 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 94399285 C G ROR2 ENST00000375715 r.? - - intronic 31 0 0 32 8 25 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 94576318 G A ROR2 CCDS6691.1 r.? - - intronic 33 0 0 39 8 20.5 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 94778873 T C - - - - - - 30 0 0 47 14 29.8 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.152804642 1.152804642 1 1.287305122 1.287305122 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 94778894 A G - - - - - - 30 0 0 41 9 22 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 95564639 C G - - - - - - 46 0 0 41 15 36.6 47 11 23.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.415860735 1.415860735 1 1.042316258 1.042316258 1 NA NA 1 NA NA 1 5 NA 1 1 1.71E-24 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 95620226 G T ZNF484 CCDS35066.1 r.? - - intronic 30 0 0 36 5 13.9 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.537717602 0.537717602 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000104 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 95751850 G A FGD3 CCDS43849.1 r.? - - intronic 23 0 0 53 12 22.6 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 5.39E-17 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 95767909 C G FGD3 CCDS43849.1 r.? - - intronic 44 0 0 47 15 31.9 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.234042553 1.234042553 1 1.305122494 1.305122494 1 NA NA 1 NA NA 1 5 NA 1 1 1.97E-23 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 95877580 C T C9orf89 CCDS6702.2 r.? - - downstream 18 0 0 17 5 29.4 25 5 20 0 0 NA 2 2 100 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 0.890868597 0.890868597 1 3.868471954 3.868471954 1 NA NA 1 5 NA 1 1 1.84E-08 0.000025 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 95988475 G T WNK2 ENST00000349097 r.? - - intronic 26 0 0 36 12 33.3 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 96055954 C A WNK2 ENST00000349097 r.? - - intronic 27 0 0 27 8 29.6 21 4 19 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.145067698 1.145067698 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 96399330 G T PHF2 CCDS35069.1 r.? - - intronic 26 0 0 33 9 27.3 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 96445843 C A PHF2 CCDS35069.1 r.? - - downstream 24 0 0 34 11 32.4 49 15 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 4.1E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 96486808 C A - - - - - - 23 0 0 44 10 22.7 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 96556178 G T - - - - - - 32 0 0 35 7 20 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 97248145 C G - - - - - - 33 0 0 45 8 17.8 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.688588008 0.688588008 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 97510755 G C MIR24-1 CCDS6713.1 r.? - - intronic 36 0 0 46 11 23.9 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.924564797 0.924564797 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 5.55E-16 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 97579768 C T MIR24-1 CCDS6713.1 r.? - - intronic 28 0 0 45 15 33.3 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 9.14E-24 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 97583815 G A MIR24-1 CCDS6713.1 r.? - - intronic 26 0 0 33 12 36.4 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.408123791 1.408123791 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 7.86E-20 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 97618347 G A MIR24-1 CCDS6713.1 r.? - - intronic 31 0 0 47 6 12.8 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.49516441 0.49516441 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000141 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 97734638 T G MIR24-1 CCDS6713.1 r.? - - intronic 30 0 0 43 8 18.6 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 98311141 G T - - - - - - 30 0 0 37 11 29.7 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.14893617 1.14893617 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 98355039 G T - - - - - - 22 0 0 38 9 23.7 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 98429343 C T - - - - - - 33 0 0 38 11 28.9 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 98783626 G C - - - - - - 41 0 0 38 8 21.1 12 2 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 0.001595918 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 98823555 C A - - - - - - 31 0 0 46 9 19.6 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 1.135857461 1.135857461 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-12 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 98870530 T G - - - - - - 28 0 0 55 11 20 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 4.77E-15 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 98930688 G A - - - - - - 36 0 0 36 17 47.2 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.825918762 1.825918762 1 1.438752784 1.438752784 1 NA NA 1 NA NA 1 5 NA 1 1 6E-30 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 99083242 C A SLC35D2 CCDS6717.1 r.1359g>u c.? p.? 3'UTR variant 28 0 0 33 8 24.2 27 3 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 99133140 G T SLC35D2 CCDS6717.1 r.? - - intronic 37 0 0 41 8 19.5 42 17 40.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.754352031 0.754352031 1 1.804008909 1.804008909 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 1.73E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 99387294 C T - - - - - - 35 0 0 38 11 28.9 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 100024340 C G KIAA1529 CCDS35077.1 r.? - - intronic 23 0 0 39 10 25.6 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.523385301 1.523385301 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 100054774 C A KIAA1529 CCDS35077.1 r.? - - intronic 25 0 0 40 13 32.5 30 3 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 100512518 G A - - - - - - 40 0 0 42 10 23.8 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 100761655 T G ANP32B CCDS6732.1 r.? - - intronic 32 0 0 40 7 17.5 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.676982592 0.676982592 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 101139446 C A GABBR2 CCDS6736.1 r.? - - intronic 20 0 0 36 12 33.3 19 4 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 101509871 G A ANKS6 CCDS43856.1 r.? - - intronic 26 0 0 37 8 21.6 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 1.398663697 1.398663697 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 102120247 C G - - - - - - 32 0 0 38 8 21.1 33 14 42.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 1.888641425 1.888641425 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 4.57E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 102625788 T G NR4A3 CCDS6743.1 r.? - - intronic 25 0 0 28 8 28.6 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 102801653 G A ERP44 CCDS35082.1 r.? - - intronic 48 0 0 40 8 20 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 103460409 T A - - - - - - 35 0 0 40 9 22.5 49 16 32.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.456570156 1.456570156 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 4.37E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 103831339 C G ENSG00000148123 CCDS6751.1 r.? - - intronic 35 0 0 28 6 21.4 33 2 6.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.271714922 0.271714922 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 0.011909843 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 103967069 G C ENSG00000148123 CCDS6751.1 r.? - - intronic 36 0 0 48 10 20.8 41 4 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 0.436525612 0.436525612 1 NA NA 1 NA NA 1 5 NA 1 1 5.37E-14 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 103976811 A T ENSG00000148123 CCDS6751.1 r.? - - intronic 38 0 0 32 8 25 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 104464098 G T GRIN3A CCDS6758.1 r.? - - intronic 24 0 0 29 6 20.7 57 13 22.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.800773694 0.800773694 1 1.0155902 1.0155902 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 2.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 104507931 G T - - - - - - 33 0 0 42 13 31 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 2.72E-20 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 104555245 C T - - - - - - 40 0 0 40 9 22.5 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 104829813 C A - - - - - - 40 0 0 50 25 50 41 16 39 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 2.434235977 1.217117988 2 2.185704905 1.092852452 2 NA NA 1 NA NA 1 5 NA 1 1 3.34E-44 1 1.4E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 104853534 C A - - - - - - 42 0 0 50 18 36 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.752649903 0.876324952 2 1.642080864 0.887624984 1.849971434 NA NA 1 NA NA 1 5 NA 1 1 5.92E-29 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 104929842 C A - - - - - - 38 0 0 42 9 21.4 51 10 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.041852998 1.041852998 1 1.098456824 1.098456824 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 104968687 T A - - - - - - 26 0 0 53 7 13.2 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.642638298 0.642638298 1 1.008786879 1.008786879 1 NA NA 1 NA NA 1 5 NA 1 1 9.85E-09 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 104969445 G T - - - - - - 24 0 0 49 7 14.3 48 9 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.696191489 0.696191489 1 1.053621851 1.053621851 1 NA NA 1 NA NA 1 5 NA 1 1 5.58E-09 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 105186795 G C - - - - - - 34 0 0 35 12 34.3 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.66988588 0.83494294 2 1.148896168 1.148896168 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 105397496 G A C9orf107 ENST00000374801 r.? - - intronic 41 0 0 54 13 24.1 55 5 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.173301741 1.173301741 1 0.509997811 0.509997811 1 NA NA 1 NA NA 1 5 NA 1 1 1.12E-18 1 0.00000883 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 105403031 C T C9orf107 ENST00000374801 r.? - - intronic 26 0 0 50 10 20 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.973694391 0.973694391 1 1.580432777 1.580432777 1 NA NA 1 NA NA 1 5 NA 1 1 8.36E-14 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 105411877 T C C9orf107 ENST00000374801 r.? - - intronic 40 0 0 47 12 25.5 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.241460348 1.241460348 1 1.473949718 1.473949718 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 105487681 A G - - - - - - 39 0 0 57 11 19.3 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.939615087 0.939615087 1 1.008786879 1.008786879 1 NA NA 1 NA NA 1 5 NA 1 1 7.29E-15 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 105546525 A G - - - - - - 39 0 0 67 29 43.3 46 16 34.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 2.108048356 1.054024178 2 1.950321299 0.97516065 2 NA NA 1 NA NA 1 5 NA 1 1 1.22E-48 1 1.31E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 105573919 T G - - - - - - 29 0 0 35 8 22.9 36 11 30.6 2 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.114880077 1.114880077 1 1.714937694 0.927007662 1.849971434 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 105596242 A G - - - - - - 31 0 0 42 16 38.1 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.854887814 0.927443907 2 1.602850263 1.602850263 1 NA NA 1 NA NA 1 5 NA 1 1 2.25E-26 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 105620772 A T - - - - - - 35 0 0 43 18 41.9 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 2.039889749 1.019944874 2 1.737355181 0.939125409 1.849971434 NA NA 1 NA NA 1 5 NA 1 1 2.06E-30 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 105771313 C A CYLC2 CCDS35085.1 r.? - - intronic 39 0 0 50 13 26 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.265802708 1.265802708 1 1.642080864 0.887624984 1.849971434 NA NA 1 NA NA 1 5 NA 1 1 3.65E-19 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 105784529 G T CYLC2 CCDS35085.1 r.? - - downstream 35 0 0 37 12 32.4 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.577384913 1.577384913 1 2.157683047 1.078841523 2 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 105822538 C T - - - - - - 33 0 0 51 11 21.6 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.051589942 1.051589942 1 1.199335512 1.199335512 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-15 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 105890968 G T - - - - - - 40 0 0 64 11 17.2 54 9 16.7 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.837377176 0.837377176 1 0.935930049 0.935930049 1 NA NA 1 0 0 1 5 NA 1 1 2.85E-14 1 8.48E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 105911039 T C - - - - - - 39 0 0 37 9 24.3 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.183038685 1.183038685 1 0.818238246 0.818238246 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 105971875 C T - - - - - - 23 0 0 39 6 15.4 47 11 23.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.749744681 0.749744681 1 1.311422943 1.311422943 1 NA NA 1 NA NA 1 5 NA 1 1 4.43E-08 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 106020539 A G - - - - - - 41 0 0 44 9 20.5 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.99803675 0.99803675 1 1.473949718 1.473949718 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 106022470 G T - - - - - - 40 0 0 44 8 18.2 47 13 27.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.886061896 0.886061896 1 1.552410919 1.552410919 1 NA NA 1 NA NA 1 5 NA 1 1 5.9E-11 1 1.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 106201182 T C - - - - - - 29 0 0 47 10 21.3 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.036984526 1.036984526 1 1.232961741 1.232961741 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 106275250 G C - - - - - - 30 0 0 54 6 11.1 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.540400387 0.540400387 1 1.148896168 1.148896168 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000329 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 106326112 C A - - - - - - 29 0 0 52 7 13.5 43 3 7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.657243714 0.657243714 1 0.392306009 0.392306009 1 NA NA 1 NA NA 1 5 NA 1 1 8.58E-09 1 0.001328364 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 106456256 T A - - - - - - 38 0 0 65 9 13.8 43 9 20.9 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.67184913 0.67184913 1 1.171313654 1.171313654 1 NA NA 1 0 0 1 5 NA 1 1 4.85E-11 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 106512772 C G - - - - - - 27 0 0 29 4 13.8 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.67184913 0.67184913 1 1.188126769 1.188126769 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000134 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 106537085 G C - - - - - - 41 0 0 49 19 38.8 49 19 38.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.888967118 0.944483559 2 2.174496161 1.087248081 2 NA NA 1 NA NA 1 5 NA 1 1 3.12E-31 1 3.12E-31 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 106549426 C G - - - - - - 38 0 0 47 14 29.8 48 4 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.450804642 1.450804642 1 0.465162839 0.465162839 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 0.000102016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 106670787 G C - - - - - - 30 0 0 47 8 17 47 6 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.827640232 0.827640232 1 0.717359558 0.717359558 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-10 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 106931710 G C - - - - - - 45 0 0 48 7 14.6 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.710796905 0.710796905 1 0.913512563 0.913512563 1 NA NA 1 NA NA 1 5 NA 1 1 4.81E-09 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 107009389 T C - - - - - - 40 0 0 46 13 28.3 61 4 6.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.377777563 1.377777563 1 0.369888522 0.369888522 1 NA NA 1 NA NA 1 5 NA 1 1 1.07E-19 1 0.000259828 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 107017335 G C - - - - - - 28 0 0 40 6 15 51 2 3.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.730270793 0.730270793 1 0.21857049 1.456859162 0.150028566 NA NA 1 NA NA 1 5 NA 1 1 5.18E-08 1 0.027109304 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 107347273 A G - - - - - - 45 0 0 49 7 14.3 43 10 23.3 118 0 0 83 7 8.4 390 101 25.9 TRUE TRUE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.696191489 0.696191489 1 1.305818571 1.305818571 1 0.408951644 0.408951644 1 1.451532231 0.784624132 1.849971434 5 6 1 1 5.58E-09 0.000000233 1.61E-14 3.28E-138 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 9 107696033 T A - - - - - - 24 0 0 47 11 23.4 49 7 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.139222437 1.139222437 1 0.801425132 0.801425132 1 NA NA 1 NA NA 1 5 NA 1 1 7.21E-16 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 107766078 A T - - - - - - 29 0 0 46 11 23.9 46 15 32.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.163564797 1.163564797 1 1.827025125 0.987596398 1.849971434 NA NA 1 NA NA 1 5 NA 1 1 5.55E-16 1 1.35E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 107798737 A G - - - - - - 30 0 0 48 12 25 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.217117988 1.217117988 1 0.952743164 0.952743164 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-17 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 107996472 G C - - - - - - 28 0 0 43 10 23.3 71 12 16.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.134353965 1.134353965 1 0.947138792 0.947138792 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 2.38E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 108194433 C A SLC44A1 ENST00000374724 r.? - - intronic 27 0 0 54 7 13 43 4 9.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.632901354 0.632901354 1 0.521206554 0.521206554 1 NA NA 1 NA NA 1 5 NA 1 1 1.13E-08 1 0.000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 108218959 G T FSD1L CCDS6765.2 r.? - - intronic 28 0 0 49 12 24.5 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.192775629 1.192775629 1 1.199335512 1.199335512 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 108613151 G A - - - - - - 37 0 0 66 10 15.2 53 4 7.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.740007737 0.740007737 1 0.420327866 0.420327866 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-12 1 0.000150502 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 108690378 T C - - - - - - 33 0 0 53 8 15.1 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.735139265 0.735139265 1 0.935930049 0.935930049 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-10 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 108808189 A G - - - - - - 50 0 0 52 11 21.2 52 15 28.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.032116054 1.032116054 1 1.614059006 0.8724778 1.849971434 NA NA 1 NA NA 1 5 NA 1 1 2.44E-15 1 1.15E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 108826450 T C - - - - - - 45 0 0 65 17 26.2 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.275539652 1.275539652 1 0.851864476 0.851864476 1 NA NA 1 NA NA 1 5 NA 1 1 1.14E-24 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 108943782 G A - - - - - - 39 0 0 52 13 25 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.217117988 1.217117988 1 1.602850263 1.602850263 1 NA NA 1 NA NA 1 5 NA 1 1 6.47E-19 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 109018460 G A - - - - - - 30 0 0 55 24 43.6 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 2.122653772 1.061326886 2 1.401092888 1.401092888 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-40 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 109085697 T C - - - - - - 22 0 0 48 6 12.5 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.608558994 0.608558994 1 1.053621851 1.053621851 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000016 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 109256686 C A - - - - - - 40 0 0 55 14 25.5 44 3 6.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 1.241460348 1.241460348 1 0.381097265 0.381097265 1 NA NA 1 NA NA 1 5 NA 1 1 2.19E-20 1 0.00142027 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 109316175 C A - - - - - - 42 0 0 50 7 14 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.681586074 0.681586074 1 1.216148626 1.216148626 1 NA NA 1 NA NA 1 5 NA 1 1 6.46E-09 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 109347744 G T - - - - - - 40 0 0 60 6 10 49 2 4.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.486847195 0.486847195 1 0.229779234 1.531569889 0.150028566 NA NA 1 NA NA 1 5 NA 1 1 0.000000621 1 0.025168485 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 109428049 C A - - - - - - 30 0 0 48 15 31.2 56 17 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.83096325 0.915481625 2 1.962120267 0.981060134 2 NA NA 1 NA NA 1 5 NA 1 1 2.86E-23 1 6.22E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 109457762 G C - - - - - - 23 0 0 58 9 15.5 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.909613153 0.909613153 1 0.877790646 0.877790646 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 109463092 G A - - - - - - 29 0 0 56 11 19.6 68 13 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.150220503 1.150220503 1 1.23277951 1.23277951 1 NA NA 1 NA NA 1 5 NA 1 1 5.91E-15 1 2.96E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 109472631 T G - - - - - - 35 0 0 56 12 21.4 62 9 14.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.255852998 1.255852998 1 0.935879733 0.935879733 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-16 1 3.12E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 109485272 A T - - - - - - 40 0 0 66 5 7.6 46 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.446003868 0.446003868 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000217 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 109552668 T G - - - - - - 27 0 0 72 10 13.9 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.815717602 0.815717602 1 1.187599109 1.187599109 1 NA NA 1 NA NA 1 5 NA 1 1 3.95E-12 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 109959566 A T - - - - - - 25 0 0 58 11 19 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.115009671 1.115009671 1 1.381229399 1.381229399 1 NA NA 1 NA NA 1 5 NA 1 1 8.96E-15 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 110025183 A T - - - - - - 26 0 0 66 10 15.2 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.892007737 0.892007737 1 1.290868597 1.290868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-12 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 110222585 G T - - - - - - 25 0 0 52 11 21.2 70 14 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.244116054 1.244116054 1 1.290868597 1.290868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-15 1 9.08E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 110266653 C A - - - - - - 27 0 0 73 18 24.7 55 13 23.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.449512573 1.449512573 1 1.523224944 1.523224944 1 NA NA 1 NA NA 1 5 NA 1 1 1.62E-25 1 1.46E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 110462604 A G - - - - - - 37 0 0 65 8 12.3 69 14 20.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.72182205 0.72182205 1 1.310231626 1.310231626 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-09 1 7.3E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 110673560 C A - - - - - - 40 0 0 66 12 18.2 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.068061896 1.068061896 1 1.258596882 1.258596882 1 NA NA 1 NA NA 1 5 NA 1 1 9.36E-16 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 110899307 C A - - - - - - 27 0 0 55 12 21.8 56 11 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.279326886 1.279326886 1 1.265051225 1.265051225 1 NA NA 1 NA NA 1 5 NA 1 1 8.78E-17 1 5.91E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 110935790 A T - - - - - - 37 0 0 62 12 19.4 51 9 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.138483559 1.138483559 1 1.135964365 1.135964365 1 NA NA 1 NA NA 1 5 NA 1 1 4.19E-16 1 4.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 111043592 T C - - - - - - 40 0 0 60 7 11.7 62 11 17.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.686611219 0.686611219 1 1.142418708 1.142418708 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-08 1 1.96E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 111055726 G T - - - - - - 38 0 0 59 11 18.6 52 9 17.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.091535783 1.091535783 1 1.116601336 1.116601336 1 NA NA 1 NA NA 1 5 NA 1 1 1.1E-14 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 111292532 C T - - - - - - 27 0 0 57 11 19.3 19 4 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.132615087 1.132615087 1 1.36186637 1.36186637 1 NA NA 1 NA NA 1 5 NA 1 1 7.29E-15 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 111524254 T G - - - - - - 34 0 0 53 7 13.2 53 7 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.774638298 0.774638298 1 0.851973274 0.851973274 1 NA NA 1 NA NA 1 5 NA 1 1 9.85E-09 1 9.85E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 111553077 A C - - - - - - 30 0 0 57 9 15.8 52 11 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.927218569 0.927218569 1 1.368320713 1.368320713 1 NA NA 1 NA NA 1 5 NA 1 1 1.42E-11 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 111588896 C T - - - - - - 36 0 0 42 6 14.3 51 18 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.839191489 0.839191489 1 2.278383073 1.139191537 2 NA NA 1 NA NA 1 5 NA 1 1 7.02E-08 1 9.1E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 111590095 T C - - - - - - 37 0 0 60 8 13.3 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.78050677 0.78050677 1 1.077875278 1.077875278 1 NA NA 1 NA NA 1 5 NA 1 1 7.93E-10 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 111600446 A T - - - - - - 30 0 0 62 12 19.4 49 6 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.138483559 1.138483559 1 0.787429844 0.787429844 1 NA NA 1 NA NA 1 5 NA 1 1 4.19E-16 1 0.000000182 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 111714532 G A CTNNAL1 CCDS6775.1 r.1879c>u c.1792C>T p.R598W missense 35 0 0 59 8 13.6 48 6 12.5 169 0 0 118 25 21.2 1127 23 2 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.798112186 0.798112186 1 0.806792873 0.806792873 1 1.244116054 1.244116054 1 0.12908686 0.12908686 1 5 5 1 1 6.9E-10 4.97E-33 0.00000016 2.95E-08 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 9 111720966 T C CTNNAL1 CCDS6775.1 r.? - - intronic 39 0 0 59 8 13.6 51 8 15.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.798112186 0.798112186 1 1.013331849 1.013331849 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-10 1 2.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 111938685 C A EPB41L4B CCDS43859.1 r.? - - intronic 33 0 0 66 12 18.2 47 6 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.068061896 1.068061896 1 0.826155902 0.826155902 1 NA NA 1 NA NA 1 5 NA 1 1 9.36E-16 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 111979181 G A EPB41L4B CCDS43859.1 r.? - - intronic 37 0 0 55 7 12.7 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.745295938 0.745295938 1 1.155327394 1.155327394 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-08 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 112113704 C A - - - - - - 29 0 0 80 9 11.2 58 6 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.657268859 0.657268859 1 0.664797327 0.664797327 1 NA NA 1 NA NA 1 5 NA 1 1 3.29E-10 1 0.000000506 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 112116820 C A - - - - - - 40 0 0 67 11 16.4 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.9624294 0.9624294 1 1.23277951 1.23277951 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-14 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 112195669 C T PTPN3 CCDS48001.1 r.? - - intronic 25 0 0 68 11 16.2 62 5 8.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.950692456 0.950692456 1 0.522801782 0.522801782 1 NA NA 1 NA NA 1 5 NA 1 1 5.76E-14 1 0.000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 112610295 T A PALM2 CCDS48002.1 r.? - - intronic 32 0 0 61 10 16.4 56 8 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.9624294 0.9624294 1 0.922971047 0.922971047 1 NA NA 1 NA NA 1 5 NA 1 1 6.98E-13 1 4.48E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 112640685 C G PALM2 CCDS48002.1 r.? - - intronic 45 0 0 70 7 10 55 13 23.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.586847195 0.586847195 1 1.523224944 1.523224944 1 NA NA 1 NA NA 1 5 NA 1 1 7.11E-08 1 1.46E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 112660879 T G PALM2 CCDS48002.1 r.? - - intronic 40 0 0 55 8 14.5 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.850928433 0.850928433 1 1.226325167 1.226325167 1 NA NA 1 NA NA 1 5 NA 1 1 3.86E-10 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 113054809 T G - - - - - - 37 0 0 58 7 12.1 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.710085106 0.710085106 1 1.006877506 1.006877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.88E-08 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 113232492 G C SVEP1 CCDS48004.1 r.? - - intronic 36 0 0 48 8 16.7 58 11 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.980034816 0.980034816 1 1.226325167 1.226325167 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-10 1 8.96E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 113516852 T G MUSK CCDS48005.1 r.? - - intronic 34 0 0 61 14 23 44 4 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.349748549 1.349748549 1 0.587345212 0.587345212 1 NA NA 1 NA NA 1 5 NA 1 1 1.1E-19 1 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 113698979 C T LPAR1 CCDS6777.1 r.? - - intronic 34 0 0 54 8 14.8 58 10 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.868533849 0.868533849 1 1.110146993 1.110146993 1 NA NA 1 NA NA 1 5 NA 1 1 3.31E-10 1 4.1E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 113818951 A T - - - - - - 39 0 0 57 22 38.6 52 14 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.265230174 1.132615087 2 1.736218263 0.868109131 2 NA NA 1 NA NA 1 5 NA 1 1 7.03E-36 1 9.04E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 113928111 G A - - - - - - 31 0 0 53 11 20.8 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.220642166 1.220642166 1 1.574859688 1.574859688 1 NA NA 1 NA NA 1 5 NA 1 1 3.07E-15 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 113969554 A G - - - - - - 35 0 0 59 12 20.3 46 4 8.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.191299807 1.191299807 1 0.56152784 0.56152784 1 NA NA 1 NA NA 1 5 NA 1 1 2.2E-16 1 0.0000862 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 114061821 A G - - - - - - 38 0 0 55 11 20 54 6 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.173694391 1.173694391 1 0.716432071 0.716432071 1 NA NA 1 NA NA 1 5 NA 1 1 4.77E-15 1 0.000000329 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 114061827 A G - - - - - - 39 0 0 58 12 20.7 52 5 9.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.214773694 1.214773694 1 0.619616927 0.619616927 1 NA NA 1 NA NA 1 5 NA 1 1 1.76E-16 1 0.00000668 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 114120109 C T KIAA0368 CCDS48006.1 r.? - - downstream 38 0 0 72 14 19.4 67 7 10.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.138483559 1.138483559 1 0.67125167 0.67125167 1 NA NA 1 NA NA 1 5 NA 1 1 1.39E-18 1 5.23E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 114137910 T A KIAA0368 CCDS48006.1 r.? - - intronic 42 0 0 62 20 32.3 75 26 34.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.895516441 0.947758221 2 2.239657016 1.119828508 2 NA NA 1 NA NA 1 5 NA 1 1 7.19E-31 1 1.19E-40 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 114274509 T A - - - - - - 30 0 0 40 11 27.5 42 4 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.613829787 1.613829787 1 0.613162584 0.613162584 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 114295038 A G ZNF483 CCDS35106.1 r.? - - intronic 26 0 0 61 11 18 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.056324952 1.056324952 1 0.981060134 0.981060134 1 NA NA 1 NA NA 1 5 NA 1 1 1.62E-14 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 114304582 A C ZNF483 CCDS35106.1 r.1525a>c c.1367A>C p.K456T missense 41 0 0 81 14 17.3 49 5 10.2 150 0 0 154 15 9.7 288 9 3.1 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.015245648 1.015245648 1 0.658342984 0.658342984 1 0.569241779 0.569241779 1 0.200084633 0.200084633 1 5 5 1 1 8.14E-18 3.91E-15 0.00000496 0.0000185 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 9 114481417 C A C9orf84 CCDS43863.1 r.? - - intronic 30 0 0 65 8 12.3 60 13 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.72182205 0.72182205 1 1.400592428 1.400592428 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-09 1 5.07E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 114569694 C G - - - - - - 33 0 0 63 7 11.1 39 4 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.651400387 0.651400387 1 0.664797327 0.664797327 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-08 1 0.0000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 114598046 A C - - - - - - 42 0 0 70 17 24.3 63 5 7.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.426038685 1.426038685 1 0.509893096 0.509893096 1 NA NA 1 NA NA 1 5 NA 1 1 4.68E-24 1 0.0000173 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 114682923 C G UGCG CCDS6782.1 r.? - - intronic 30 0 0 66 10 15.2 58 12 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.892007737 0.892007737 1 1.336048998 1.336048998 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-12 1 1.76E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 115298896 G A KIAA1958 CCDS35108.1 r.? - - intronic 39 0 0 55 24 43.6 68 22 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.558653772 1.279326886 2 2.091207127 1.045603563 2 NA NA 1 NA NA 1 5 NA 1 1 1.28E-40 1 7.67E-34 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 115335772 C G KIAA1958 CCDS35108.1 r.? - - intronic 34 0 0 48 9 18.8 57 11 19.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.103272727 1.103272727 1 1.245688196 1.245688196 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 7.29E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 115482168 T A C9orf80 CCDS6785.1 r.? - - upstream 26 0 0 58 7 12.1 56 7 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.710085106 0.710085106 1 0.806792873 0.806792873 1 NA NA 1 NA NA 1 5 NA 1 1 1.88E-08 1 1.46E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 115750146 C A - - - - - - 31 0 0 62 12 19.4 57 12 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.138483559 1.138483559 1 1.36186637 1.36186637 1 NA NA 1 NA NA 1 5 NA 1 1 4.19E-16 1 1.4E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 115968717 G C FKBP15 CCDS48007.1 r.? - - intronic 30 0 0 55 13 23.6 52 5 9.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.384959381 1.384959381 1 0.619616927 0.619616927 1 NA NA 1 NA NA 1 5 NA 1 1 1.46E-18 1 0.00000668 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 116291534 A G RGS3 CCDS43869.1 r.2113a>g c.1904A>G p.Y635C missense 38 0 0 62 8 12.9 53 0 0 271 0 0 207 19 9.2 30 0 0 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.757032882 0.757032882 1 0 0 1 0.53989942 0.53989942 1 0 0 1 3 3 1 1 1.04E-09 2.76E-18 1 1 YES 1_1 0_0 somatic custom.pulldown.HiSeq PD9776b 9 116371028 C G - - - - - - 24 0 0 65 10 15.4 37 5 13.5 2 0 0 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.903744681 0.903744681 1 0.871336303 0.871336303 1 NA NA 1 NA NA 1 5 NA 1 1 1.36E-12 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 116401121 T A - - - - - - 21 0 0 64 12 18.8 66 15 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.103272727 1.103272727 1 1.465135857 1.465135857 1 NA NA 1 NA NA 1 5 NA 1 1 6.3E-16 1 6.45E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 116417876 T G - - - - - - 37 0 0 68 9 13.2 49 7 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.774638298 0.774638298 1 0.922971047 0.922971047 1 NA NA 1 NA NA 1 5 NA 1 1 7.38E-11 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 116884841 G T - - - - - - 31 0 0 61 17 27.9 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.637303675 0.818651838 2 0.877790646 0.877790646 1 NA NA 1 NA NA 1 5 NA 1 1 3.33E-25 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 117093619 G T AKNA CCDS6805.1 r.? - - downstream 41 0 0 107 11 10.3 76 14 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.604452611 0.604452611 1 1.187599109 1.187599109 1 NA NA 1 NA NA 1 5 NA 1 1 9.74E-12 1 3.14E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 117139253 A T AKNA CCDS6805.1 r.996u>a c.834T>A p.D278E missense 40 0 0 64 9 14.1 35 6 17.1 331 0 0 449 81 18 7 0 0 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.827454545 0.827454545 1 1.10369265 1.10369265 1 1.056324952 1.056324952 1 0 0 1 5 5 1 1 4.2E-11 3.58E-97 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 117195449 C T DFNB31 CCDS43870.1 r.? - - intronic 23 0 0 61 14 23 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.349748549 1.349748549 1 0.858427617 0.858427617 1 NA NA 1 NA NA 1 5 NA 1 1 1.1E-19 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 117631222 G A - - - - - - 32 0 0 53 16 30.2 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.77227853 0.886139265 2 1.891122494 0.945561247 2 NA NA 1 NA NA 1 5 NA 1 1 1.9E-24 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 117777556 G T - - - - - - 27 0 0 59 8 13.6 47 3 6.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.798112186 0.798112186 1 0.413077951 0.413077951 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-10 1 0.001719595 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 117844160 C A TNC CCDS6811.1 r.2610g>u c.2295G>T p.E765D missense 36 0 0 66 12 18.2 53 5 9.4 213 2 0.9 165 24 14.5 73 2 2.7 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.068061896 1.068061896 1 0.606708241 0.606708241 1 0.850928433 0.850928433 1 0.174267261 0.174267261 1 5 5 1 0.288196141 9.36E-16 1.39E-27 0.00000734 0.052016623 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9776b 9 118047017 T A Dec-01 CCDS6812.1 r.? - - intronic 39 0 0 67 7 10.4 60 12 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.610321083 0.610321083 1 1.290868597 1.290868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.23E-08 1 2.74E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 118131531 C G Dec-01 CCDS6812.1 r.? - - intronic 30 0 0 67 12 17.9 58 12 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.05045648 1.05045648 1 1.336048998 1.336048998 1 NA NA 1 NA NA 1 5 NA 1 1 1.14E-15 1 1.76E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 118142006 G A Dec-01 CCDS6812.1 r.? - - intronic 24 0 0 48 19 39.6 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.323914894 1.161957447 2 1.613585746 1.613585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.92E-31 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 118333884 A C - - - - - - 27 0 0 58 8 13.8 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.80984913 0.80984913 1 1.032694878 1.032694878 1 NA NA 1 NA NA 1 5 NA 1 1 5.99E-10 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 118339052 A T - - - - - - 27 0 0 55 10 18.2 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.068061896 1.068061896 1 1.529679287 1.529679287 1 NA NA 1 NA NA 1 5 NA 1 1 2.33E-13 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 118434965 T C - - - - - - 36 0 0 43 6 14 53 7 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.821586074 0.821586074 1 0.851973274 0.851973274 1 NA NA 1 NA NA 1 5 NA 1 1 8.13E-08 1 9.85E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 118547417 C A - - - - - - 47 0 0 73 18 24.7 51 7 13.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.449512573 1.449512573 1 0.884244989 0.884244989 1 NA NA 1 NA NA 1 5 NA 1 1 1.62E-25 1 7.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 118572995 A G - - - - - - 39 0 0 80 6 7.5 40 1 2.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.440135397 0.440135397 1 0.161358575 0.161358575 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000342 1 0.181679879 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 118655526 G C - - - - - - 40 0 0 66 14 21.2 62 7 11.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.244116054 1.244116054 1 0.729340757 0.729340757 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-19 1 3.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 118701539 T C - - - - - - 37 0 0 56 9 16.1 50 10 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.944823985 0.944823985 1 1.290868597 1.290868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-11 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 118730288 G C - - - - - - 35 0 0 72 25 34.7 49 12 24.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.036359768 1.018179884 2 1.581314031 1.581314031 1 NA NA 1 NA NA 1 5 NA 1 1 3.63E-39 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 118879827 G T - - - - - - 36 0 0 57 9 15.8 52 5 9.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.927218569 0.927218569 1 0.619616927 0.619616927 1 NA NA 1 NA NA 1 5 NA 1 1 1.42E-11 1 0.00000668 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 119001918 A T PAPPAS CCDS6813.1 r.? - - intronic 33 0 0 66 14 21.2 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.244116054 1.244116054 1 1.123055679 1.123055679 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-19 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 119016426 C T PAPPAS CCDS6813.1 r.? - - intronic 40 0 0 61 18 29.5 52 10 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.731199226 0.865599613 2 1.239233853 1.239233853 1 NA NA 1 NA NA 1 5 NA 1 1 4.08E-27 1 1.28E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 119016434 A T PAPPAS CCDS6813.1 r.? - - intronic 38 0 0 59 16 27.1 52 11 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.590355899 0.79517795 2 1.368320713 1.368320713 1 NA NA 1 NA NA 1 5 NA 1 1 1.37E-23 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 119150841 T C PAPPAS CCDS6813.1 r.? - - intronic 31 0 0 54 6 11.1 38 2 5.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.651400387 0.651400387 1 0.342080178 0.342080178 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000329 1 0.015598339 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 119151705 G T PAPPAS CCDS6813.1 r.? - - intronic 36 0 0 64 11 17.2 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.009377176 1.009377176 1 1.052057906 1.052057906 1 NA NA 1 NA NA 1 5 NA 1 1 2.85E-14 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 119251368 C A ASTN2 CCDS48009.1 r.? - - intronic 39 0 0 65 8 12.3 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.72182205 0.72182205 1 1.032694878 1.032694878 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-09 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 119374996 G C ASTN2 CCDS48009.1 r.? - - intronic 29 0 0 55 7 12.7 48 5 10.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.745295938 0.745295938 1 0.67125167 0.67125167 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-08 1 0.00000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 119683781 G T ASTN2 CCDS48009.1 r.? - - intronic 35 1 2.9 39 13 33.3 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.954201161 0.97710058 2 1.045603563 1.045603563 1 NA NA 1 NA NA 1 5 NA 0.16091139 1 8.79E-21 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 119772441 C A ASTN2 CCDS48009.1 r.? - - intronic 30 0 0 60 8 13.3 54 10 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.78050677 0.78050677 1 1.194053452 1.194053452 1 NA NA 1 NA NA 1 5 NA 1 1 7.93E-10 1 1.91E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 119813716 C A ASTN2 CCDS48009.1 r.? - - intronic 32 0 0 44 13 29.5 54 15 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.731199226 0.865599613 2 1.79430735 0.897153675 2 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 2.2E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 119918930 G A ASTN2 CCDS48009.1 r.? - - intronic 36 0 0 42 8 19 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.115009671 1.115009671 1 0.922971047 0.922971047 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 119995647 T G ASTN2 CCDS48009.1 r.? - - intronic 30 0 0 59 9 15.3 45 4 8.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.897876209 0.897876209 1 0.574436526 0.574436526 1 NA NA 1 NA NA 1 5 NA 1 1 1.96E-11 1 0.0000791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 120038571 G T ASTN2 CCDS48009.1 r.? - - intronic 36 0 0 61 7 11.5 43 3 7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.674874275 0.674874275 1 0.451804009 0.451804009 1 NA NA 1 NA NA 1 5 NA 1 1 2.69E-08 1 0.001328364 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 120097474 T A ASTN2 CCDS48009.1 r.? - - intronic 39 0 0 49 9 18.4 60 10 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.079798839 1.079798839 1 1.077875278 1.077875278 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-12 1 5.86E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 120202774 C A - - - - - - 29 0 0 62 14 22.6 63 8 12.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.326274662 1.326274662 1 0.819701559 0.819701559 1 NA NA 1 NA NA 1 5 NA 1 1 1.42E-19 1 1.18E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 120221156 G T - - - - - - 37 0 0 56 9 16.1 41 3 7.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.944823985 0.944823985 1 0.471167038 0.471167038 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-11 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 120322247 T A - - - - - - 35 0 0 63 8 12.7 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.745295938 0.745295938 1 1.252142539 1.252142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-09 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 120348263 C A - - - - - - 29 0 0 58 8 13.8 52 9 17.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.80984913 0.80984913 1 1.116601336 1.116601336 1 NA NA 1 NA NA 1 5 NA 1 1 5.99E-10 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 120357952 G T - - - - - - 29 0 0 46 18 39.1 36 14 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 2.294572534 1.147286267 2 2.510739421 1.25536971 2 NA NA 1 NA NA 1 5 NA 1 1 9.41E-30 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 120366166 G T - - - - - - 32 0 0 69 11 15.9 45 3 6.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.933087041 0.933087041 1 0.43244098 0.43244098 1 NA NA 1 NA NA 1 5 NA 1 1 6.82E-14 1 0.001516071 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 120414741 C T - - - - - - 45 0 0 68 7 10.3 67 7 10.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.604452611 0.604452611 1 0.67125167 0.67125167 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000058 1 5.23E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 120794084 G C - - - - - - 40 0 0 60 6 10 55 10 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.586847195 0.586847195 1 1.174690423 1.174690423 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000621 1 2.33E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 120841855 C A - - - - - - 23 0 0 63 15 23.8 51 4 7.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.396696325 1.396696325 1 0.503438753 0.503438753 1 NA NA 1 NA NA 1 5 NA 1 1 2.97E-21 1 0.000129466 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 120852570 T C - - - - - - 27 0 0 60 18 30 55 14 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.760541586 0.880270793 2 1.645857461 0.822928731 2 NA NA 1 NA NA 1 5 NA 1 1 2.89E-27 1 2.19E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 120983476 G A - - - - - - 32 0 0 59 11 18.6 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.091535783 1.091535783 1 1.23277951 1.23277951 1 NA NA 1 NA NA 1 5 NA 1 1 1.1E-14 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 121107653 A T - - - - - - 39 0 0 57 10 17.5 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.026982592 1.026982592 1 0.903608018 0.903608018 1 NA NA 1 NA NA 1 5 NA 1 1 3.4E-13 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 121156191 G T - - - - - - 33 0 0 68 13 19.1 67 11 16.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 1.120878143 1.120878143 1 1.058512249 1.058512249 1 NA NA 1 NA NA 1 5 NA 1 1 2.96E-17 1 4.85E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 121274258 C A - - - - - - 36 0 0 56 8 14.3 50 5 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.839191489 0.839191489 1 0.645434298 0.645434298 1 NA NA 1 NA NA 1 5 NA 1 1 4.48E-10 1 0.00000549 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 121428625 G A - - - - - - 37 0 0 55 8 14.5 68 14 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.850928433 0.850928433 1 1.329594655 1.329594655 1 NA NA 1 NA NA 1 5 NA 1 1 3.86E-10 1 5.84E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 121503915 T C - - - - - - 37 0 0 48 7 14.6 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.856796905 0.856796905 1 1.006877506 1.006877506 1 NA NA 1 NA NA 1 5 NA 1 1 4.81E-09 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 121675241 C T - - - - - - 27 0 0 37 8 21.6 50 13 26 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 1.158129176 1.158129176 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 3.65E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 121835356 C T - - - - - - 28 0 0 39 10 25.6 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 121836611 T G - - - - - - 42 0 0 29 9 31 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 121950535 A C DBC1 CCDS6822.1 r.? - - intronic 37 0 0 47 13 27.7 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.071566731 1.071566731 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-19 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 122093248 C T DBC1 CCDS6822.1 r.? - - intronic 15 0 0 43 21 48.8 34 20 58.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.887814313 0.943907157 2 2.619153675 1.309576837 2 NA NA 1 NA NA 1 5 NA 1 1 4.52E-37 1 1.24E-37 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 122269175 C G - - - - - - 47 0 0 30 17 56.7 40 20 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.193423598 1.096711799 2 2.227171492 1.113585746 2 NA NA 1 NA NA 1 5 NA 1 1 8.59E-32 1 1.19E-35 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 122389574 T A - - - - - - 25 0 0 26 7 26.9 23 8 34.8 0 0 NA 1 0 0 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.040618956 1.040618956 1 1.550111359 1.550111359 1 0 0 1 NA NA 1 5 NA 1 1 4.73E-11 1 1.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 122403713 C A - - - - - - 38 0 0 38 11 28.9 20 4 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 122428988 C G - - - - - - 32 0 0 24 7 29.2 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.12959381 1.12959381 1 0.538975501 0.538975501 1 NA NA 1 NA NA 1 5 NA 1 1 2.51E-11 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 122513338 C A - - - - - - 36 0 0 30 6 20 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 8.37E-09 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 122571946 T A - - - - - - 35 0 0 42 10 23.8 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 122828619 C A - - - - - - 38 0 0 35 8 22.9 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 1.19376392 1.19376392 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 123173667 G A CDK5RAP2 CCDS6823.1 r.4563c>u c.4383C>T p.A1461A silent 36 0 0 34 11 32.4 38 5 13.2 170 0 0 69 14 20.3 157 4 2.5 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 0.587973274 0.587973274 1 0.785299807 0.785299807 1 0.111358575 0.111358575 1 5 5 1 1 1.26E-17 7.3E-19 0.00000137 0.008313184 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 9 123223907 C G CDK5RAP2 CCDS6823.1 r.? - - intronic 24 0 0 39 8 20.5 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 123406469 C A MEGF9 CCDS48010.1 r.? - - intronic 29 0 0 39 10 25.6 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 123522986 A T FBXW2 CCDS43872.1 r.? - - downstream 30 0 0 43 16 37.2 38 15 39.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.439071567 1.439071567 1 1.759465479 0.879732739 2 NA NA 1 NA NA 1 5 NA 1 1 3.56E-26 1 4.24E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 124516963 G C DAB2IP CCDS6833.2 r.? - - intronic 33 0 0 36 11 30.6 24 2 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 125002786 T C RBM18 CCDS6839.1 r.2091a>g c.? p.? 3'UTR variant 39 0 0 37 9 24.3 48 14 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 1.300668151 1.300668151 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 2.51E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 125374632 A G OR1Q1 CCDS35125.1 r.? - - upstream 38 0 0 29 11 37.9 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.46615087 1.46615087 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 125384325 A G - - - - - - 38 0 0 30 6 20 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 8.37E-09 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 125670929 G A ZBTB6 CCDS6846.1 r.3512c>u c.? p.? 3'UTR variant 33 0 0 41 8 19.5 30 1 3.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.754352031 0.754352031 1 0.146993318 0.146993318 1 NA NA 1 NA NA 1 3 NA 1 1 3.22E-11 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 126048934 G C - - - - - - 23 0 0 38 10 26.3 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 126366850 T C DENND1A CCDS35133.1 r.? - - intronic 35 0 0 35 7 20 37 13 35.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.563474388 0.781737194 2 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 3.89E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 126871243 A T - - - - - - 24 0 0 32 8 25 35 4 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.5077951 0.5077951 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 127184678 C G - - - - - - 25 0 0 35 8 22.9 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 127235216 G T GPR144 CCDS48016.1 r.? - - intronic 25 0 0 32 11 34.4 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.330754352 1.330754352 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 127599057 G A - - - - - - 36 0 0 37 10 27 30 2 6.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.29844098 0.29844098 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 0.009909649 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 128185136 G T - - - - - - 29 0 0 43 17 39.5 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.528046422 0.764023211 2 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 2.84E-28 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 128470214 G A MAPKAP1 CCDS35140.1 r.? - - upstream 22 0 0 43 9 20.9 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.808510638 0.808510638 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 128772945 C G - - - - - - 34 0 0 53 8 15.1 54 7 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.584139265 0.584139265 1 0.579064588 0.579064588 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-10 1 1.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 128885249 T A - - - - - - 26 0 0 42 12 28.6 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 128909964 A T - - - - - - 21 0 0 44 9 20.5 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.398663697 1.398663697 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 129316650 C T - - - - - - 24 0 0 48 11 22.9 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 1.425389755 1.425389755 1 NA NA 1 NA NA 1 5 NA 1 1 9.31E-16 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 129416039 C G LMX1B CCDS6866.1 r.? - - intronic 23 0 0 25 8 32 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.237911025 1.237911025 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 129424844 C G LMX1B CCDS6866.1 r.? - - intronic 26 0 0 46 10 21.7 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.839458414 0.839458414 1 1.527839644 1.527839644 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-14 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 129861770 C T RALGPS1 CCDS35143.1 r.? - - intronic 40 0 0 51 15 29.4 45 13 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 1.287305122 1.287305122 1 NA NA 1 NA NA 1 5 NA 1 1 8.22E-23 1 7.68E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 129928404 A G RALGPS1 CCDS35143.1 r.934a>g c.667A>G p.I223V missense 40 0 0 37 8 21.6 43 13 30.2 102 0 0 64 9 14.1 44 4 9.1 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 1.345211581 1.345211581 1 0.545454545 0.545454545 1 0.405345212 0.405345212 1 5 5 1 1 1.33E-11 4.2E-11 3.88E-20 0.0000723 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 9 130152878 G T GARNL3 CCDS6869.2 r.? - - intronic 36 0 0 46 8 17.4 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.67311412 0.67311412 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-11 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 130650004 C T ST6GALNAC6 CCDS6882.1 r.? - - intronic 31 0 0 33 7 21.2 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 130650737 C T ST6GALNAC6 CCDS6882.1 r.? - - intronic 25 0 0 24 10 41.7 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.613152805 1.613152805 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.8E-17 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 131112004 A G SLC27A4 CCDS6899.1 r.? - - intronic 32 0 0 44 9 20.5 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 131859750 G T CRAT CCDS6919.1 r.? - - intronic 30 0 0 41 10 24.4 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 131930913 C G - - - - - - 25 0 0 29 16 55.2 35 16 45.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.135396518 1.067698259 2 2.035634744 1.017817372 2 NA NA 1 NA NA 1 5 NA 1 1 9.74E-30 1 5.66E-28 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 131958178 G A - - - - - - 31 0 0 45 12 26.7 40 11 27.5 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 6.03E-18 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 131966718 A T - - - - - - 29 0 0 41 24 58.5 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.263056093 1.131528046 2 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 8.33E-45 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 132060147 A T - - - - - - 32 0 0 40 21 52.5 42 16 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.030947776 1.015473888 2 1.697104677 0.848552339 2 NA NA 1 NA NA 1 5 NA 1 1 5.72E-38 1 2.25E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 132166760 G C - - - - - - 31 0 0 29 11 37.9 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.46615087 1.46615087 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 132196507 A C - - - - - - 31 0 0 48 17 35.4 39 16 41 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.369439072 1.369439072 1 1.826280624 0.913140312 2 NA NA 1 NA NA 1 5 NA 1 1 2.8E-27 1 5.16E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 132336094 G C - - - - - - 27 0 0 40 6 15 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.580270793 0.580270793 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-08 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 132527688 C A - - - - - - 41 0 0 33 9 27.3 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 133351212 C T ASS1 CCDS6933.1 r.? - - intronic 18 0 0 47 12 25.5 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-17 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 133506065 C A FUBP3 CCDS43893.1 r.1243c>a c.1168C>A p.L390I missense 21 0 0 36 8 22.2 34 12 35.3 158 0 0 178 39 21.9 1 0 0 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.572383073 1.572383073 1 0.847195358 0.847195358 1 0 0 1 5 5 1 1 1.04E-11 2.93E-51 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 133792739 A T FIBCD1 CCDS6937.1 r.? - - intronic 32 0 0 46 10 21.7 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.839458414 0.839458414 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-14 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 133983156 G A AIF1L CCDS6939.1 r.? - - intronic 27 0 0 27 7 25.9 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.001934236 1.001934236 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 6.36E-11 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 134158451 C A - - - - - - 27 0 0 27 18 66.7 3 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.580270793 1.290135397 2 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 1.71E-35 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 134164864 C A PPAPDC3 CCDS6942.1 r.? - - upstream 20 0 0 44 22 50 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.934235977 0.967117988 2 1.648106904 1.648106904 1 NA NA 1 NA NA 1 5 NA 1 1 4.51E-39 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 134164866 G T PPAPDC3 CCDS6942.1 r.? - - upstream 21 0 0 46 22 47.8 25 9 36 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.849129594 0.924564797 2 1.603563474 1.603563474 1 NA NA 1 NA NA 1 5 NA 1 1 1.68E-38 1 3.71E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 134626137 C T - - - - - - 31 0 0 44 24 54.5 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 2.108317215 1.054158607 2 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 9.53E-44 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 135061672 G C NTNG2 CCDS6946.1 r.? - - intronic 28 0 0 35 9 25.7 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 135243839 G A - - - - - - 33 0 0 32 7 21.9 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.847195358 0.847195358 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 135343600 G T C9orf171 CCDS6949.1 r.? - - intronic 28 0 0 33 8 24.2 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 135985208 T A RALGDS CCDS43897.1 r.? - - intronic 25 0 0 43 10 23.3 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 136399069 G C ADAMTSL2 CCDS6976.1 r.? - - intronic 34 0 0 48 13 27.1 23 2 8.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.048355899 1.048355899 1 0.38752784 0.38752784 1 NA NA 1 NA NA 1 5 NA 1 1 2E-19 1 0.00589844 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 136492706 C T - - - - - - 32 0 0 39 8 20.5 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 136563471 T A SARDH CCDS6978.1 r.? - - intronic 31 0 0 40 10 25 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 136921246 G C BRD3 CCDS6980.1 r.? - - intronic 28 0 0 35 12 34.3 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.32688588 1.32688588 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 137178857 G A - - - - - - 33 0 0 47 10 21.3 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.823984526 0.823984526 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 137335347 T C - - - - - - 19 0 0 38 10 26.3 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 137362909 T C - - - - - - 27 0 0 49 9 18.4 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-12 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 137521711 C A - - - - - - 46 0 0 55 18 32.7 24 1 4.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.264990329 1.264990329 1 0.187082405 0.187082405 1 NA NA 1 NA NA 1 5 NA 1 1 4.61E-28 1 0.113346489 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 137648721 G A COL5A1 CCDS6982.1 r.? - - intronic 21 0 0 41 6 14.6 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.564796905 0.564796905 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 6.05E-08 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 137676520 C T COL5A1 CCDS6982.1 r.? - - intronic 43 0 0 45 11 24.4 50 15 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-16 1 5.83E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 137679405 C T COL5A1 CCDS6982.1 r.? - - intronic 36 0 0 40 7 17.5 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.676982592 0.676982592 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-09 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 137718954 C T COL5A1 CCDS6982.1 r.? - - intronic 23 0 0 34 12 35.3 19 5 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.3655706 1.3655706 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 3.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 138027851 C T - - - - - - 26 0 0 31 10 32.3 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 138303316 T G - - - - - - 44 0 0 33 8 24.2 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 138614532 T A KCNT1 CCDS35175.1 r.? - - intronic 31 0 0 32 9 28.1 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 138621294 T A KCNT1 CCDS35175.1 r.? - - intronic 28 0 0 38 11 28.9 45 11 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 4.24E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 138800290 G A CAMSAP1 CCDS35176.2 r.? - - upstream 19 0 0 32 5 15.6 21 2 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 0.423162584 0.423162584 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000562 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 139480757 G C - - - - - - 35 0 0 45 14 31.1 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.203094778 1.203094778 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 139540509 G C - - - - - - 26 0 0 32 9 28.1 21 6 28.6 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 1.273942094 1.273942094 1 0 0 1 NA NA 1 5 NA 1 1 4.94E-14 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 140312977 G A EXD3 CCDS48066.1 r.? - - intronic 36 0 0 32 8 25 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 140844783 C T CACNA1B ENST00000371372 r.? - - intronic 22 0 0 24 9 37.5 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 140889483 C A CACNA1B ENST00000371372 r.? - - intronic 30 0 0 31 14 45.2 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.748549323 0.874274662 2 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.49E-24 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 140962893 C T CACNA1B ENST00000371372 r.? - - intronic 27 0 0 35 10 28.6 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 3045353 C G - - - - - - 34 0 0 51 10 19.6 39 8 20.5 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 1.04E-13 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 3479906 A T - - - - - - 40 0 0 34 8 23.5 37 7 18.9 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 6.32E-12 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 3893710 G C - - - - - - 32 0 0 44 12 27.3 41 11 26.8 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 4.44E-18 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 4000457 C T - - - - - - 32 0 0 40 7 17.5 32 7 21.9 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 1.26E-09 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 4050824 C T - - - - - - 33 0 0 24 8 33.3 34 11 32.4 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 2.68E-13 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 4119645 C G - - - - - - 20 0 0 27 7 25.9 35 11 31.4 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 6.36E-11 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 4228838 C A - - - - - - 32 0 0 49 12 24.5 35 9 25.7 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 1.9E-17 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 4303754 G C - - - - - - 26 0 0 30 4 13.3 30 6 20 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 0.0000154 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 4356921 A T - - - - - - 39 0 0 36 9 25 33 10 30.3 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 1.63E-13 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 4643615 C A - - - - - - 24 0 0 36 10 27.8 33 8 24.2 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 2.21E-15 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 5152950 T C - - - - - - 31 0 0 31 6 19.4 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-08 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 5263114 A G - - - - - - 31 0 0 39 9 23.1 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 5531834 C A - - - - - - 44 0 0 33 10 30.3 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 5602722 C T - - - - - - 37 0 0 27 9 33.3 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 5800749 T G - - - - - - 37 0 0 45 11 24.4 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-16 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 5872317 G T NLGN4X CCDS14126.1 r.? - - intronic 26 0 0 31 10 32.3 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 6036479 C T NLGN4X CCDS14126.1 r.? - - intronic 26 0 0 42 13 31 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 1.581291759 1.581291759 1 NA NA 1 NA NA 1 5 NA 1 1 2.72E-20 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 6343680 C G - - - - - - 24 0 0 40 9 22.5 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 6360568 C G - - - - - - 28 0 0 38 12 31.6 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 6543036 G C - - - - - - 40 0 0 36 10 27.8 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 7005172 G A HDHD1A CCDS48075.1 r.? - - intronic 36 0 0 37 9 24.3 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 7067392 C T HDHD1A CCDS48075.1 r.? - - upstream 40 0 0 47 13 27.7 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.071566731 1.071566731 1 1.135857461 1.135857461 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-19 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 7194518 A T STS CCDS14127.1 r.? - - intronic 34 0 0 42 12 28.6 42 5 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.530066815 0.530066815 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 7459102 G A - - - - - - 34 0 0 38 9 23.7 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 7957500 A T - - - - - - 27 0 0 30 5 16.7 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 8364706 G A ENSG00000227978 ENST00000418307 r.? - - intronic 41 0 0 21 8 38.1 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.473887814 1.473887814 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 7.5E-14 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 8404792 G C ENSG00000227978 ENST00000418307 r.? - - intronic 30 0 0 51 9 17.6 44 14 31.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 1.416481069 1.416481069 1 NA NA 1 NA NA 1 5 NA 1 1 4.92E-12 1 6.1E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 8612216 G A KAL1 CCDS14130.1 r.? - - intronic 34 0 0 43 16 37.2 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.439071567 1.439071567 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 3.56E-26 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 8652483 C A KAL1 CCDS14130.1 r.? - - intronic 34 1 2.9 38 13 34.2 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 0.156694864 1 5.88E-21 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 8719509 G A - - - - - - 26 0 0 37 9 24.3 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 8846578 G A - - - - - - 30 0 0 41 10 24.4 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 8979875 G A - - - - - - 34 0 0 40 13 32.5 45 14 31.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.257253385 1.257253385 1 1.385300668 1.385300668 1 NA NA 1 NA NA 1 5 NA 1 1 1.3E-20 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 9033636 T C - - - - - - 29 0 0 45 10 22.2 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 9684301 C A TBL1X CCDS14133.1 r.2389c>a c.? p.? 3'UTR variant 35 0 0 48 13 27.1 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.048355899 1.048355899 1 1.572383073 1.572383073 1 NA NA 1 NA NA 1 5 NA 1 1 2E-19 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 9709322 C G GPR143 CCDS14134.1 r.? - - intronic 27 0 0 40 15 37.5 30 1 3.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 0.146993318 0.146993318 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-24 1 0.139615808 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 9908994 C G SHROOM2 CCDS14135.1 r.? - - intronic 27 0 0 44 10 22.7 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 10050901 C T WWC3 CCDS14136.1 r.? - - intronic 30 0 0 53 13 24.5 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.947775629 0.947775629 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 8.53E-19 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 10272291 T A - - - - - - 26 0 0 38 10 26.3 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 10288160 G A - - - - - - 33 0 0 37 11 29.7 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.14893617 1.14893617 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 10298173 C A - - - - - - 19 0 0 33 10 30.3 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 10629604 C T MID1 CCDS14138.1 r.? - - intronic 28 0 0 34 11 32.4 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 10674251 A G MID1 CCDS14138.1 r.? - - intronic 25 0 0 48 15 31.2 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 2.86E-23 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 10708787 T G MID1 CCDS14138.1 r.? - - intronic 51 0 0 36 9 25 33 13 39.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.755011136 1.755011136 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 10869431 T A - - - - - - 33 0 0 30 8 26.7 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 10979169 C A - - - - - - 28 0 0 26 7 26.9 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.040618956 1.040618956 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 11387522 G C ARHGAP6 CCDS14140.1 r.? - - intronic 32 0 0 42 15 35.7 34 13 38.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.381044487 1.381044487 1 1.70155902 1.70155902 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 1.03E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 11479351 C A ARHGAP6 CCDS14140.1 r.? - - intronic 23 0 0 56 11 19.6 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 5.91E-15 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 11709832 C A - - - - - - 34 0 0 42 8 19 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.735009671 0.735009671 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 11739407 G T - - - - - - 32 0 0 33 8 24.2 30 3 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 11982650 A T - - - - - - 42 0 0 52 15 28.8 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.114119923 1.114119923 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-22 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 12361535 G C FRMPD4 CCDS35201.1 r.? - - intronic 32 0 0 40 9 22.5 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.659242762 0.659242762 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 12382186 A G FRMPD4 CCDS35201.1 r.? - - intronic 28 0 0 40 11 27.5 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 12449245 C T FRMPD4 CCDS35201.1 r.? - - intronic 44 0 0 38 9 23.7 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 12588040 C A FRMPD4 CCDS35201.1 r.? - - intronic 26 0 0 27 8 29.6 48 12 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.145067698 1.145067698 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 12588041 C A FRMPD4 CCDS35201.1 r.? - - intronic 26 0 0 27 8 29.6 49 12 24.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.145067698 1.145067698 1 1.091314031 1.091314031 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 12646573 C G FRMPD4 CCDS35201.1 r.? - - intronic 32 0 0 30 7 23.3 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 12749910 C T - - - - - - 26 0 0 42 10 23.8 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 13023799 C G - - - - - - 34 0 0 44 14 31.8 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.230174081 1.230174081 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 6.1E-22 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 13174185 T C - - - - - - 24 0 0 37 6 16.2 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.626692456 0.626692456 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-08 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 13330709 C A - - - - - - 27 0 0 20 5 25 21 2 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.423162584 0.423162584 1 NA NA 1 NA NA 1 5 NA 1 1 4.55E-08 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 13534407 C T - - - - - - 25 0 0 52 15 28.8 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.114119923 1.114119923 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-22 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 13622989 G T EGFL6 CCDS14155.1 r.? - - intronic 30 0 0 34 9 26.5 48 8 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 1.23E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 13742466 C A TRAPPC2P1 CCDS48082.1 r.? - - intronic 35 0 0 35 7 20 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.425389755 1.425389755 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 14248552 C A - - - - - - 32 0 0 36 11 30.6 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 14301007 C A - - - - - - 37 0 0 52 15 28.8 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.114119923 1.114119923 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-22 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 14321452 C T - - - - - - 32 0 0 42 11 26.2 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.013539652 1.013539652 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 14572055 A G GLRA2 CCDS48085.1 r.? - - intronic 32 0 0 49 12 24.5 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.947775629 0.947775629 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 14602360 G T GLRA2 CCDS48085.1 r.? - - intronic 30 0 0 48 16 33.3 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.96E-25 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 14612482 T C GLRA2 CCDS48085.1 r.? - - intronic 30 0 0 45 12 26.7 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 6.03E-18 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 14816567 A T - - - - - - 29 0 0 40 8 20 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 14952592 G T - - - - - - 32 0 0 46 14 30.4 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.176015474 1.176015474 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-21 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 15012672 T G - - - - - - 32 0 0 32 9 28.1 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.087040619 1.087040619 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 15583558 A G ACE2 CCDS14169.1 r.? - - intronic 28 1 3.6 37 12 32.4 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 0.130947004 1 4.03E-19 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 15747123 G A INE2 ENST00000498004 r.? - - intronic 25 0 0 39 8 20.5 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 15898822 T A - - - - - - 26 0 0 38 10 26.3 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 16182374 A G MAGEB17 ENST00000400004 r.? - - upstream 31 0 0 38 7 18.4 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 0.659242762 0.659242762 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 16256620 C A - - - - - - 28 0 0 45 10 22.2 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 16470267 C T - - - - - - 28 0 0 31 9 29 29 12 41.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 1.844097996 1.844097996 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 1.17E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 16623186 C A CTPS2 CCDS14175.1 r.? - - intronic 33 0 0 36 8 22.2 39 14 35.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.599109131 1.599109131 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 16657228 C T CTPS2 CCDS14175.1 r.? - - intronic 38 0 0 43 10 23.3 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 16666679 A T CTPS2 CCDS14175.1 r.? - - intronic 28 0 0 41 18 43.9 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.698259188 1.698259188 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 6.91E-31 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 16930972 T C - - - - - - 30 0 0 34 9 26.5 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 17447550 C G NHS CCDS14181.1 r.? - - intronic 40 0 0 32 10 31.2 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 17825909 T G RAI2 CCDS14183.1 r.? - - intronic 37 0 0 42 12 28.6 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 17910529 T A - - - - - - 36 0 0 51 13 25.5 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.986460348 0.986460348 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 4.87E-19 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 17993320 C T - - - - - - 35 0 0 28 5 17.9 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000279 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 18032244 G A - - - - - - 32 0 0 45 20 44.4 48 13 27.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.717601547 1.717601547 1 1.207126949 1.207126949 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-34 1 2E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 18112937 A T - - - - - - 27 0 0 39 14 35.9 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.388781431 1.388781431 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 18252046 G T - - - - - - 24 0 0 35 8 22.9 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 18296544 C A SCML2 CCDS14185.1 r.? - - intronic 38 0 0 37 9 24.3 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 18329115 G C SCML2 CCDS14185.1 r.? - - intronic 29 0 0 34 16 47.1 50 12 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.82205029 1.82205029 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 3.09E-28 1 2.49E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 18510864 G T CDKL5 CCDS14186.1 r.? - - intronic 29 0 0 38 13 34.2 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 18544083 T C CDKL5 CCDS14186.1 r.? - - intronic 34 0 0 40 10 25 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 18819457 C G PPEF1 CCDS14188.1 r.? - - intronic 27 0 0 39 10 25.6 49 11 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.997772829 0.997772829 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 19202080 G C - - - - - - 28 0 0 44 12 27.3 50 11 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 1.52E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 19326668 C A - - - - - - 32 0 0 49 17 34.7 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.342359768 1.342359768 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 4.26E-27 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 19459675 G T MAP3K15 CCDS35212.1 r.? - - intronic 19 0 0 35 9 25.7 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 19822106 C T SH3KBP1 CCDS14193.1 r.? - - intronic 37 0 0 29 8 27.6 33 13 39.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 1.755011136 1.755011136 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 19842956 G T SH3KBP1 CCDS14193.1 r.? - - intronic 27 0 0 36 11 30.6 46 17 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 1.648106904 1.648106904 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 1.16E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 19907164 G T SH3KBP1 CCDS14193.1 r.? - - upstream 28 0 0 38 10 26.3 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 19948238 G A CXorf23 CCDS14194.2 r.? - - intronic 32 0 0 40 12 30 34 6 17.6 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 0.783964365 0.783964365 1 NA NA 1 0 0 1 5 NA 1 1 1.2E-18 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 20167640 G A RPS6KA3 CCDS14197.1 r.? - - downstream 30 0 0 52 15 28.8 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.114119923 1.114119923 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-22 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 20218228 G A RPS6KA3 CCDS14197.1 r.? - - intronic 37 0 0 43 11 25.6 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 20384644 A T - - - - - - 34 0 0 42 12 28.6 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 2.35E-18 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 20601862 T A - - - - - - 44 0 0 40 11 27.5 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 1.318485523 1.318485523 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 20735240 C A - - - - - - 36 0 0 43 12 27.9 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.659242762 0.659242762 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 20834074 T C - - - - - - 33 0 0 37 6 16.2 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.626692456 0.626692456 1 1.438752784 1.438752784 1 NA NA 1 NA NA 1 5 NA 1 1 3.18E-08 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 20856287 T G - - - - - - 32 0 0 32 13 40.6 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.570599613 1.570599613 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-22 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 20886566 A G - - - - - - 21 0 0 41 7 17.1 29 2 6.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 0.307349666 0.307349666 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 0.009279585 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 20940805 C T - - - - - - 29 0 0 32 8 25 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 21010607 T A - - - - - - 34 0 0 39 6 15.4 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 4.43E-08 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 21047215 C G - - - - - - 42 0 0 35 9 25.7 40 12 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 21091300 T G - - - - - - 36 0 0 38 14 36.8 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.423597679 1.423597679 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 21186331 T C - - - - - - 42 0 0 44 9 20.5 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 21186558 T C - - - - - - 27 0 0 40 12 30 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 21389319 A T CNKSR2 CCDS14198.1 r.? - - upstream 39 0 0 34 9 26.5 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 21551399 A T CNKSR2 CCDS14198.1 r.? - - intronic 43 0 0 27 10 37 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.431334623 1.431334623 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 7.62E-17 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 21959410 C T SMS CCDS14203.1 r.? - - intronic 33 0 0 14 4 28.6 0 0 NA 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 0.000000601 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 22268967 G C PHEX CCDS14204.1 r.5712g>c c.? p.? 3'UTR variant 33 0 0 48 12 25 36 12 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-17 1 2.73E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 22508798 T A - - - - - - 30 0 0 38 9 23.7 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 22546750 T A - - - - - - 34 0 0 34 12 35.3 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.3655706 1.3655706 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 1.21E-19 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 22933753 T C - - - - - - 34 0 0 35 5 14.3 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 22936198 C A - - - - - - 50 0 0 38 8 21.1 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 0.623608018 0.623608018 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 23111502 G A - - - - - - 24 0 0 43 11 25.6 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 23168327 A T - - - - - - 39 0 0 30 7 23.3 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 23359934 T G PTCHD1 CCDS35215.2 r.? - - intronic 43 0 0 39 8 20.5 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 23573971 A C - - - - - - 34 0 0 34 10 29.4 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 1.15E-15 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 23816202 C A - - - - - - 37 0 0 37 7 18.9 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 0.855233853 0.855233853 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 24011361 C A KLHL15 CCDS35217.1 r.? - - intronic 39 0 0 29 10 34.5 40 14 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.334622824 1.334622824 1 1.559020045 1.559020045 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 24011362 A T KLHL15 CCDS35217.1 r.? - - intronic 38 0 0 29 11 37.9 41 14 34.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.46615087 1.46615087 1 1.518930958 1.518930958 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 1.9E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 24146474 G T - - - - - - 26 0 0 38 13 34.2 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 24288304 T C - - - - - - 41 0 0 46 6 13 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.502901354 0.502901354 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 24400560 C A - - - - - - 32 0 0 29 12 41.4 30 3 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.601547389 1.601547389 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-20 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 24428191 C G - - - - - - 21 0 0 22 7 31.8 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.230174081 1.230174081 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 1.25E-11 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 24577211 A C PCYT1B CCDS14213.1 r.? - - downstream 36 0 0 39 9 23.1 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 24626949 A T PCYT1B CCDS14213.1 r.? - - intronic 29 0 0 35 6 17.1 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 24760943 G A POLA1 CCDS14214.1 r.? - - intronic 23 0 0 41 13 31.7 45 14 31.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 1.385300668 1.385300668 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 8.81E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 24810951 G T POLA1 CCDS14214.1 r.? - - intronic 41 0 0 31 7 22.6 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 1.167037862 1.167037862 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 25047585 C T - - - - - - 26 0 0 33 11 33.3 36 5 13.9 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 25226195 A T - - - - - - 45 0 0 40 9 22.5 43 9 20.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.930957684 0.930957684 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 25341411 A T - - - - - - 41 0 0 34 8 23.5 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 25558311 C T - - - - - - 39 0 0 43 12 27.9 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 25621975 C G - - - - - - 34 0 0 41 12 29.3 27 3 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 0.000334187 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 25777689 A T - - - - - - 29 0 0 40 8 20 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 25795426 T C - - - - - - 31 0 0 30 5 16.7 36 3 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 0.000788827 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 25826873 C T - - - - - - 35 0 0 45 15 33.3 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 9.14E-24 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 25883538 A T - - - - - - 39 0 0 43 10 23.3 37 3 8.1 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.360801782 0.360801782 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 0.000855237 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 26045926 C G - - - - - - 21 0 0 37 9 24.3 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 26055684 G A - - - - - - 42 0 0 31 7 22.6 34 4 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 0.525612472 0.525612472 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 26083725 T C - - - - - - 32 0 0 46 10 21.7 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.839458414 0.839458414 1 0.779510022 0.779510022 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-14 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 26179644 G T - - - - - - 29 0 0 40 10 25 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 26204886 C T - - - - - - 30 0 0 39 11 28.2 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 26435066 C T - - - - - - 31 0 0 37 13 35.1 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.357833656 1.357833656 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 26457881 G T - - - - - - 39 0 0 44 9 20.5 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 26598953 G A - - - - - - 42 0 0 35 9 25.7 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 26696340 T G - - - - - - 31 0 0 42 10 23.8 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 1.532293987 1.532293987 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 27024081 A T - - - - - - 30 0 0 21 8 38.1 23 4 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.473887814 1.473887814 1 0.775055679 0.775055679 1 NA NA 1 NA NA 1 5 NA 1 1 7.5E-14 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 27110552 C A - - - - - - 25 0 0 38 5 13.2 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.510638298 0.510638298 1 1.750556793 1.750556793 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000137 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 27162602 G A - - - - - - 28 0 0 29 5 17.2 25 3 12 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.665377176 0.665377176 1 0.534521158 0.534521158 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000336 1 0.00026475 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 27294779 C A - - - - - - 37 0 0 43 10 23.3 50 12 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 2.49E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 27469302 G T - - - - - - 46 0 0 45 10 22.2 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 2.66E-14 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 27583919 C T - - - - - - 36 0 0 41 9 22 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 27670269 C G - - - - - - 24 0 0 36 13 36.1 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.396518375 1.396518375 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 2.53E-21 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 28037332 G C - - - - - - 31 0 0 38 12 31.6 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.222437137 1.222437137 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 28098847 A G - - - - - - 34 0 0 44 7 15.9 31 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.615087041 0.615087041 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 2.55E-09 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 28223773 A C - - - - - - 30 0 0 29 9 31 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 28322570 G T - - - - - - 29 0 0 44 11 25 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.532293987 1.532293987 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 28323447 G A - - - - - - 33 0 0 37 12 32.4 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 28369894 A T - - - - - - 40 0 0 39 10 25.6 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.44E-15 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 28633860 C A IL1RAPL1 CCDS14218.1 r.? - - intronic 39 0 0 39 6 15.4 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 4.43E-08 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 28638383 C T IL1RAPL1 CCDS14218.1 r.? - - intronic 37 0 0 35 7 20 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 28869972 G A IL1RAPL1 CCDS14218.1 r.? - - intronic 30 0 0 47 13 27.7 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.071566731 1.071566731 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-19 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 28921003 G A IL1RAPL1 CCDS14218.1 r.? - - intronic 37 0 0 33 5 15.2 47 11 23.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.588007737 0.588007737 1 1.042316258 1.042316258 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000066 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 28925387 T A IL1RAPL1 CCDS14218.1 r.? - - intronic 40 0 0 45 11 24.4 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-16 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 29176748 C T IL1RAPL1 CCDS14218.1 r.? - - intronic 28 0 0 34 15 44.1 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.705996132 1.705996132 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 5.18E-26 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 29202836 T C IL1RAPL1 CCDS14218.1 r.? - - intronic 33 0 0 39 11 28.2 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 29316489 C A IL1RAPL1 CCDS14218.1 r.? - - intronic 32 0 0 32 7 21.9 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.847195358 0.847195358 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 29360832 T A IL1RAPL1 CCDS14218.1 r.? - - intronic 42 0 0 39 9 23.1 33 4 12.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.538975501 0.538975501 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 0.0000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 29554001 G A IL1RAPL1 CCDS14218.1 r.? - - intronic 37 0 0 42 10 23.8 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 1.398663697 1.398663697 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 29621473 A G IL1RAPL1 CCDS14218.1 r.? - - intronic 37 0 0 39 13 33.3 44 5 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.5077951 0.5077951 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 29654204 C A IL1RAPL1 CCDS14218.1 r.? - - intronic 39 0 0 45 6 13.3 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.51450677 0.51450677 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000108 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 29693767 G T IL1RAPL1 CCDS14218.1 r.? - - intronic 38 0 0 28 7 25 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 29760276 A T IL1RAPL1 CCDS14218.1 r.? - - intronic 35 0 0 38 6 15.8 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.611218569 0.611218569 1 1.06013363 1.06013363 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 29808476 C T IL1RAPL1 CCDS14218.1 r.? - - intronic 44 0 0 41 9 22 33 13 39.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 1.755011136 1.755011136 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 6.37E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 29890154 C A IL1RAPL1 CCDS14218.1 r.? - - intronic 28 0 0 38 9 23.7 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 29945175 G C IL1RAPL1 CCDS14218.1 r.? - - intronic 37 0 0 28 7 25 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 30025439 A G - - - - - - 34 0 0 41 9 22 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 30143014 C G - - - - - - 25 0 0 35 7 20 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 30174380 T C - - - - - - 33 0 0 32 15 46.9 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.814313346 1.814313346 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.59E-26 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 30319309 G A NR0B1 CCDS14223.1 r.? - - downstream 26 0 0 27 6 22.2 25 2 8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.356347439 0.356347439 1 NA NA 1 NA NA 1 5 NA 1 1 4.23E-09 1 0.006948068 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 30550000 A T - - - - - - 33 0 0 47 10 21.3 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.823984526 0.823984526 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 30557132 A T - - - - - - 29 0 0 40 9 22.5 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 31074496 G T - - - - - - 28 0 0 36 7 19.4 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 31134404 C A DMD CCDS14233.1 r.? - - downstream 17 0 0 36 11 30.6 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 31676696 T G DMD CCDS14233.1 r.? - - intronic 26 0 0 38 8 21.1 37 2 5.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 0.240534521 0.240534521 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 0.014826063 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 31950295 C A DMD CCDS14233.1 r.6871g>u c.6664G>T p.E2222* nonsense 46 0 0 40 10 25 49 18 36.7 112 2 1.8 58 17 29.3 421 16 3.8 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.634743875 1.634743875 1 1.133462282 1.133462282 1 0.169265033 0.169265033 1 5 5 1 0.10855951 7.22E-15 1.24E-25 3.8E-29 7.93E-10 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b X 32022032 C A DMD CCDS14233.1 r.? - - intronic 38 0 0 38 11 28.9 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 32163111 A G DMD CCDS14233.1 r.? - - intronic 31 0 0 31 8 25.8 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 32357481 A C DMD CCDS14233.1 r.? - - intronic 33 0 0 42 10 23.8 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 32434867 C A DMD CCDS14233.1 r.? - - intronic 36 0 0 48 15 31.2 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 2.86E-23 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 32757852 G A DMD CCDS14233.1 r.? - - intronic 28 0 0 33 10 30.3 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 32933694 T A DMD CCDS14233.1 r.? - - intronic 35 0 0 47 18 38.3 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.481624758 1.481624758 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-29 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 33190818 C T DMD CCDS14233.1 r.? - - intronic 43 0 0 45 14 31.1 37 4 10.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.203094778 1.203094778 1 0.481069042 0.481069042 1 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 33438694 C A - - - - - - 26 0 0 35 10 28.6 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 33691197 C T - - - - - - 35 0 0 27 12 44.4 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.717601547 1.717601547 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-21 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 33746998 C A - - - - - - 38 0 0 42 9 21.4 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 33746999 T A - - - - - - 37 0 0 43 9 20.9 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.808510638 0.808510638 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 9.45E-13 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 33983226 C T - - - - - - 27 0 0 34 7 20.6 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 0.948775056 0.948775056 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 34166771 T G - - - - - - 16 0 0 31 8 25.8 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 34295699 A T - - - - - - 30 0 0 47 9 19.1 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.738878143 0.738878143 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-12 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 34302998 A T - - - - - - 28 0 0 44 11 25 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.543429844 0.543429844 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 34536987 C G - - - - - - 36 0 0 36 10 27.8 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 34695984 G T - - - - - - 33 0 0 48 7 14.6 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.564796905 0.564796905 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 4.81E-09 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 34699900 G T - - - - - - 32 0 0 37 13 35.1 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.357833656 1.357833656 1 0.948775056 0.948775056 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 34758483 C T - - - - - - 44 0 0 57 7 12.3 35 1 2.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.47582205 0.47582205 1 0.129175947 0.129175947 1 NA NA 1 NA NA 1 3 NA 1 1 1.66E-08 1 0.16091139 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 34786414 G T - - - - - - 34 0 0 40 9 22.5 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 34796506 A G - - - - - - 24 0 0 61 17 27.9 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 1.064587973 1.064587973 1 NA NA 1 NA NA 1 5 NA 1 1 3.33E-25 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 34886038 G C - - - - - - 25 0 0 47 13 27.7 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.071566731 1.071566731 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-19 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 35019423 C G - - - - - - 26 0 0 50 17 34 47 18 38.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.315280464 1.315280464 1 1.706013363 1.706013363 1 NA NA 1 NA NA 1 5 NA 1 1 6.43E-27 1 1.52E-29 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 35052708 C G - - - - - - 39 0 0 50 9 18 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.696324952 0.696324952 1 0.948775056 0.948775056 1 NA NA 1 NA NA 1 5 NA 1 1 4.07E-12 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 35088791 A T - - - - - - 37 0 0 51 12 23.5 51 8 15.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 0.699331849 0.699331849 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-17 1 2.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 35245783 T A - - - - - - 42 0 0 42 4 9.5 48 15 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.367504836 0.367504836 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000601 1 2.86E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 35299412 G A - - - - - - 29 0 0 41 15 36.6 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.415860735 1.415860735 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 1.71E-24 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 35319731 T C - - - - - - 38 0 0 51 14 27.5 50 10 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 6.64E-21 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 35412532 A G - - - - - - 31 0 0 49 13 26.5 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.025145068 1.025145068 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 5 NA 1 1 2.71E-19 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 35501049 T A - - - - - - 43 0 0 40 9 22.5 48 10 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 5.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 35508769 A T - - - - - - 33 0 0 50 28 56 48 15 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 2.166344294 2.166344294 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 2.97E-51 1 2.86E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 35621084 T G - - - - - - 37 0 0 50 13 26 53 15 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.005802708 1.005802708 1 1.260579065 1.260579065 1 NA NA 1 NA NA 1 5 NA 1 1 3.65E-19 1 1.6E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 35663677 C T - - - - - - 40 0 0 35 6 17.1 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 35711984 G C - - - - - - 37 0 0 51 14 27.5 58 15 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 1.153674833 1.153674833 1 NA NA 1 NA NA 1 5 NA 1 1 6.64E-21 1 7.42E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 35917509 C A - - - - - - 27 0 0 51 9 17.6 41 3 7.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 0.325167038 0.325167038 1 NA NA 1 NA NA 1 5 NA 1 1 4.92E-12 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 35933955 C A CXorf22 CCDS14237.2 r.? - - upstream 32 0 0 60 13 21.7 55 13 23.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.839458414 0.839458414 1 1.051224944 1.051224944 1 NA NA 1 NA NA 1 5 NA 1 1 5.07E-18 1 1.46E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 36092315 T A CXorf59 CCDS14238.1 r.? - - intronic 34 0 0 51 11 21.6 58 11 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 1.94E-15 1 8.96E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 36193319 C T - - - - - - 20 0 0 30 7 23.3 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 36259061 T C CXorf30 ENST00000378653 r.? - - intronic 44 0 0 53 11 20.8 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 3.07E-15 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 36414726 T C - - - - - - 32 0 0 52 13 25 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 6.47E-19 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 36417678 C A - - - - - - 36 0 0 47 10 21.3 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.823984526 0.823984526 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 37159541 G T - - - - - - 27 0 0 52 12 23.1 57 9 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 4.19E-17 1 1.42E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 37176472 C T - - - - - - 33 0 0 52 22 42.3 45 23 51.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.636363636 1.636363636 1 2.276169265 2.276169265 1 NA NA 1 NA NA 1 5 NA 1 1 5.59E-37 1 4.42E-41 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 37284306 G A PRRG1 CCDS14239.1 r.? - - intronic 34 0 0 48 9 18.8 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 0.708240535 0.708240535 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 37316072 A T PRRG1 CCDS14239.1 r.4017a>u c.? p.? 3'UTR variant 40 0 0 54 8 14.8 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.572533849 0.572533849 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 3.31E-10 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 37755167 A T ENSG00000250349 ENST00000465127 r.? - - intronic 46 0 0 50 8 16 43 4 9.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.618955513 0.618955513 1 0.414253898 0.414253898 1 NA NA 1 NA NA 1 5 NA 1 1 1.74E-10 1 0.000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 38018466 G A SRPX CCDS14245.1 r.? - - intronic 28 0 0 48 15 31.2 52 10 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 0.855233853 0.855233853 1 NA NA 1 NA NA 1 5 NA 1 1 2.86E-23 1 1.28E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 38035051 A C SRPX CCDS14245.1 r.? - - intronic 34 0 0 39 14 35.9 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.388781431 1.388781431 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 8.19E-23 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 38165256 T G RPGR CCDS35229.1 r.? - - intronic 27 0 0 43 7 16.3 49 11 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.630560928 0.630560928 1 0.997772829 0.997772829 1 NA NA 1 NA NA 1 5 NA 1 1 2.15E-09 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 38178114 G A RPGR CCDS35229.1 r.614c>u c.437C>T p.S146F missense 31 0 0 51 7 13.7 44 12 27.3 189 0 0 120 22 18.3 265 23 8.7 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.529980658 0.529980658 1 1.216035635 1.216035635 1 0.707930368 0.707930368 1 0.38752784 0.38752784 1 5 5 1 1 7.46E-09 9.41E-28 4.44E-18 2.93E-21 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b X 38214374 G C OTC CCDS14247.1 r.? - - intronic 41 0 0 52 11 21.2 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-15 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 38259603 G T OTC CCDS14247.1 r.? - - intronic 43 0 0 51 15 29.4 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 8.22E-23 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 38418873 C G TSPAN7 CCDS14248.1 r.? - - upstream 37 0 0 51 16 31.4 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 0.779510022 0.779510022 1 NA NA 1 NA NA 1 5 NA 1 1 9.28E-25 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 38629030 A G - - - - - - 36 0 0 60 13 21.7 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.839458414 0.839458414 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 5.07E-18 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 38663182 G A MID1IP1 CCDS14249.1 r.197g>a c.? p.? 5'UTR variant 35 0 0 44 9 20.5 12 2 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 0.001595918 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 38944819 G T - - - - - - 40 0 0 49 12 24.5 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.947775629 0.947775629 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-17 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 39178445 C T - - - - - - 22 0 0 55 10 18.2 49 10 20.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 0.908685969 0.908685969 1 NA NA 1 NA NA 1 5 NA 1 1 2.33E-13 1 6.72E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 39633145 C T - - - - - - 30 0 0 49 9 18.4 58 9 15.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 0.690423163 0.690423163 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-12 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 39865823 G A - - - - - - 23 0 0 38 7 18.4 19 3 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 40030088 G T BCOR CCDS14250.1 r.? - - intronic 33 0 0 48 9 18.8 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 0.775055679 0.775055679 1 NA NA 1 NA NA 1 5 NA 1 1 2.75E-12 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 40031112 G T BCOR CCDS14250.1 r.? - - intronic 27 0 0 49 10 20.4 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.789168279 0.789168279 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-14 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 40165755 G A - - - - - - 29 0 0 54 12 22.2 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.779510022 0.779510022 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-17 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 40286873 C T - - - - - - 33 0 0 33 7 21.2 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 40302641 G T - - - - - - 28 0 0 25 8 32 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.237911025 1.237911025 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 40312351 A C - - - - - - 29 0 0 32 7 21.9 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.847195358 0.847195358 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 40358052 G A - - - - - - 34 0 0 60 18 30 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 2.89E-27 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 40671043 C A - - - - - - 37 0 0 50 15 30 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.83E-23 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 40926322 G A - - - - - - 29 0 0 38 10 26.3 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 41099715 G T - - - - - - 33 0 0 29 6 20.7 42 15 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.800773694 0.800773694 1 1.590200445 1.590200445 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 2.65E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 41345108 G T - - - - - - 45 0 0 46 11 23.9 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.924564797 0.924564797 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 5.55E-16 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 41622328 G A CASK CCDS48095.1 r.? - - intronic 33 0 0 45 14 31.1 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.203094778 1.203094778 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 41657340 A T CASK CCDS48095.1 r.? - - intronic 46 0 0 41 14 34.1 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-22 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 42047951 A G - - - - - - 36 0 0 30 5 16.7 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 42123539 G A - - - - - - 33 0 0 36 8 22.2 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 42241329 T A - - - - - - 35 0 0 28 6 21.4 43 13 30.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.345211581 1.345211581 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 3.88E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 42381173 G A - - - - - - 44 0 0 35 8 22.9 47 11 23.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 1.042316258 1.042316258 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 42466227 A C - - - - - - 37 0 0 43 8 18.6 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 1.011135857 1.011135857 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 42518068 G T - - - - - - 37 0 0 37 5 13.5 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.522243714 0.522243714 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000119 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 42861570 A C - - - - - - 27 0 0 28 4 14.3 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000116 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 42870864 T C - - - - - - 36 0 0 45 8 17.8 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.688588008 0.688588008 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 42882180 T G - - - - - - 30 0 0 46 12 26.1 44 2 4.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.00967118 1.00967118 1 0.200445434 0.200445434 1 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 0.020580492 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 42914888 C A - - - - - - 28 0 0 38 8 21.1 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 43250692 C T - - - - - - 38 0 0 45 9 20 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-12 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 43397282 G T - - - - - - 37 0 0 40 12 30 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 43541408 C T MAOA CCDS14260.1 r.? - - intronic 35 0 0 44 10 22.7 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 43610534 G T MAOA CCDS14260.1 r.? - - downstream 37 0 0 43 8 18.6 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 1.572383073 1.572383073 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 44101409 G C EFHC2 ENST00000420999 r.1322c>g c.1322C>G p.T441R missense 34 0 0 45 11 24.4 36 7 19.4 196 0 0 91 17 18.7 146 7 4.8 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.864142539 0.864142539 1 0.723404255 0.723404255 1 0.213808463 0.213808463 1 5 5 1 1 4.24E-16 6.18E-22 5.74E-10 0.0000103 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b X 44240513 C T - - - - - - 21 0 0 43 10 23.3 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 44261092 A C - - - - - - 37 0 0 37 8 21.6 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.855233853 0.855233853 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 44523503 A T - - - - - - 31 0 0 31 10 32.3 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 44614538 G T - - - - - - 34 0 0 43 8 18.6 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 44653512 G C - - - - - - 29 0 0 27 8 29.6 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.145067698 1.145067698 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 44654560 T C - - - - - - 34 0 0 35 11 31.4 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 44739995 G A KDM6A CCDS14265.1 r.? - - intronic 38 0 0 37 11 29.7 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.14893617 1.14893617 1 1.541202673 1.541202673 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 45055812 T G CXorf36 CCDS48096.1 r.? - - intronic 37 0 0 38 5 13.2 31 9 29 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.510638298 0.510638298 1 1.291759465 1.291759465 1 0 0 1 NA NA 1 5 NA 1 1 0.00000137 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 45236683 G A - - - - - - 29 0 0 50 13 26 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.005802708 1.005802708 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 3.65E-19 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 46535118 A C SLC9A7 CCDS14269.1 r.? - - intronic 34 0 0 46 15 32.6 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-23 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 46658024 C T - - - - - - 21 0 0 35 7 20 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 46767306 C T PHF16 CCDS14271.1 r.? - - upstream 27 0 0 43 12 27.9 32 2 6.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.276169265 0.276169265 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 0.011224977 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 46817713 G A PHF16 CCDS14271.1 r.? - - intronic 32 0 0 38 11 28.9 48 13 27.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 1.207126949 1.207126949 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 2E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 46952395 A G RGN CCDS14272.1 r.1918a>g c.? p.? 3'UTR variant 26 0 0 42 6 14.3 48 12 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 7.02E-08 1 1.44E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 47255811 C G ZNF157 CCDS14278.1 r.? - - intronic 17 0 0 29 4 13.8 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.53384913 0.53384913 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000134 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 47629780 T G - - - - - - 46 0 0 41 9 22 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 5.92E-13 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 47880976 G A - - - - - - 26 0 0 42 10 23.8 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 48130923 C A SSX1 CCDS14290.1 r.? - - downstream 33 0 0 46 16 34.8 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.34622824 1.34622824 1 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 1.31E-25 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 48197591 G T - - - - - - 24 0 0 38 8 21.1 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 48520001 T A - - - - - - 33 0 0 43 10 23.3 39 14 35.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.599109131 1.599109131 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 8.19E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 48674735 G T HDAC6 CCDS14306.1 r.? - - intronic 21 0 0 37 8 21.6 35 4 11.4 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.5077951 0.5077951 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 48842851 G T GRIPAP1 CCDS35249.1 r.? - - intronic 30 0 0 44 13 29.5 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 48914375 C G CCDC120 CCDS14316.1 r.? - - upstream 23 0 0 43 8 18.6 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 48920840 C T CCDC120 CCDS14316.1 r.? - - intronic 25 0 0 34 8 23.5 40 14 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 1.559020045 1.559020045 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 1.25E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 49000377 C T - - - - - - 28 0 0 41 11 26.8 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 49438281 G A - - - - - - 40 0 0 35 11 31.4 46 12 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 1.162583519 1.162583519 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 8.12E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 49505028 C T - - - - - - 31 0 0 38 15 39.5 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.528046422 1.528046422 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-25 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 49804253 A G CLCN5 CCDS14328.1 r.? - - intronic 42 0 0 34 5 14.7 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.568665377 0.568665377 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 49893005 G A - - - - - - 35 0 0 50 11 22 39 13 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 8.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 50073408 G C CCNB3 CCDS14331.1 r.? - - intronic 33 0 0 40 11 27.5 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 50513497 G C SHROOM4 CCDS35277.1 r.? - - intronic 39 0 0 31 6 19.4 21 2 9.5 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.423162584 0.423162584 1 NA NA 1 0 0 1 5 NA 1 1 1.03E-08 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 50701725 C T - - - - - - 38 0 0 38 9 23.7 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 50865006 T A - - - - - - 38 0 0 40 12 30 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.572383073 1.572383073 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 50870575 A G - - - - - - 50 0 0 30 7 23.3 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.19376392 1.19376392 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 50978260 T A - - - - - - 41 0 0 28 6 21.4 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 51276988 A C - - - - - - 25 0 0 27 7 25.9 24 2 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.001934236 1.001934236 1 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 6.36E-11 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 51561053 G A MAGED1 CCDS14337.1 r.? - - intronic 22 0 0 42 9 21.4 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 51735153 T C - - - - - - 23 0 0 21 5 23.8 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.95E-08 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 52037516 A T - - - - - - 32 0 0 39 17 43.6 29 10 34.5 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.686653772 1.686653772 1 1.53674833 1.53674833 1 NA NA 1 NA NA 1 5 NA 1 1 3.51E-29 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 52630069 A C - - - - - - 18 0 0 34 6 17.6 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-08 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 53091252 A T GPR173 CCDS14349.1 r.? - - intronic 32 0 0 49 14 28.6 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 3.5E-21 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 53133623 G C - - - - - - 29 0 0 40 12 30 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 53216367 G C KDM5C CCDS14351.1 r.? - - downstream 35 0 0 34 11 32.4 36 13 36.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 1.608017817 1.608017817 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-17 1 2.53E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 53240834 C A KDM5C CCDS14351.1 r.1779g>u c.1246G>T p.V416L missense 30 0 0 38 11 28.9 48 8 16.7 211 0 0 114 27 23.7 28 10 35.7 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.743875278 0.743875278 1 0.916827853 0.916827853 1 1.590200445 1.590200445 1 5 4 1 1 5.19E-17 5.42E-37 1.23E-10 1.18E-16 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b X 53555442 G T HUWE1 CCDS35301.1 r.? - - downstream 23 0 0 42 7 16.7 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 53691510 G C HUWE1 CCDS35301.1 r.? - - intronic 29 0 0 33 4 12.1 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.468085106 0.468085106 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000228 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 53761574 C A - - - - - - 31 0 0 36 6 16.7 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 53763946 C G - - - - - - 31 0 0 41 10 24.4 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 53794706 C T - - - - - - 47 0 0 46 14 30.4 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.176015474 1.176015474 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-21 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 53945515 C A - - - - - - 38 0 0 36 7 19.4 35 12 34.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.527839644 1.527839644 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 1.83E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 54282725 C G WNK3 CCDS35302.1 r.? - - intronic 46 0 0 36 14 38.9 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.50483559 1.50483559 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-23 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 54377111 A T WNK3 CCDS35302.1 r.? - - intronic 36 0 0 50 17 34 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.315280464 1.315280464 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 6.43E-27 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 54911247 T G - - - - - - 39 0 0 22 5 22.7 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 7.67E-08 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 55347834 T C - - - - - - 16 0 0 26 6 23.1 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 3.3E-09 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 55356065 C G - - - - - - 37 0 0 42 9 21.4 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 55572460 C T - - - - - - 47 0 0 43 10 23.3 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 55832109 C T - - - - - - 37 0 0 48 6 12.5 33 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 55854144 A G - - - - - - 32 0 0 24 9 37.5 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 56034697 G A - - - - - - 32 0 0 45 6 13.3 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.51450677 0.51450677 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000108 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 56072535 A T - - - - - - 24 0 0 46 13 28.3 46 13 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.094777563 1.094777563 1 1.260579065 1.260579065 1 NA NA 1 NA NA 1 5 NA 1 1 1.07E-19 1 1.07E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 56472993 G C - - - - - - 33 0 0 37 11 29.7 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.14893617 1.14893617 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 56585826 C G UBQLN2 CCDS14374.1 r.? - - upstream 34 0 0 38 15 39.5 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.528046422 1.528046422 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-25 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 56591755 G C UBQLN2 CCDS14374.1 r.1684g>c c.1449G>C p.G483G silent 29 0 0 43 8 18.6 26 7 26.9 128 0 0 91 22 24.2 7 6 85.7 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 1.198218263 1.198218263 1 0.936170213 0.936170213 1 3.817371938 3.817371938 1 5 4 1 1 4.85E-11 1.2E-30 4.73E-11 1.09E-13 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 56690657 T C - - - - - - 29 0 0 31 7 22.6 29 3 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 0.458797327 0.458797327 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 56815236 T A - - - - - - 29 0 0 41 7 17.1 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 56877864 A G - - - - - - 33 0 0 37 12 32.4 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 57004523 A G - - - - - - 38 0 0 34 6 17.6 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-08 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 57297911 T A - - - - - - 33 0 0 54 6 11.1 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.429400387 0.429400387 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000329 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 57331872 T C FAAH2 CCDS14375.1 r.? - - intronic 30 0 0 43 12 27.9 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 58082338 G T - - - - - - 40 0 0 41 13 31.7 50 11 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.226305609 1.226305609 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 1.89E-20 1 1.52E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 61737937 A T - - - - - - 32 0 0 26 5 19.2 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.742746615 0.742746615 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000188 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 62328878 A T - - - - - - 35 0 0 40 9 22.5 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 62617563 A T - - - - - - 43 0 0 47 10 21.3 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.823984526 0.823984526 1 1.011135857 1.011135857 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 62708701 A T - - - - - - 30 0 0 37 8 21.6 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 63070517 C T - - - - - - 39 0 0 57 12 21.1 40 19 47.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 2.115812918 2.115812918 1 NA NA 1 NA NA 1 5 NA 1 1 1.4E-16 1 2.27E-33 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 63140836 A T - - - - - - 28 0 0 38 14 36.8 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.423597679 1.423597679 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 63157819 C A - - - - - - 35 0 0 56 8 14.3 32 11 34.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 1.532293987 1.532293987 1 NA NA 1 NA NA 1 5 NA 1 1 4.48E-10 1 5.72E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 63202699 T A - - - - - - 27 0 0 31 8 25.8 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 63784149 C T - - - - - - 39 0 0 48 11 22.9 42 9 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 9.31E-16 1 7.51E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 64042715 A T - - - - - - 26 0 0 41 10 24.4 19 4 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 64084011 C A - - - - - - 34 0 0 29 8 27.6 34 11 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 1.26E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 64177717 G A ZC4H2 CCDS14380.1 r.? - - intronic 31 0 0 39 6 15.4 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 4.43E-08 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 64568002 C A - - - - - - 33 0 0 20 6 30 19 6 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.407572383 1.407572383 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-10 1 4.01E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 65006224 A T - - - - - - 30 0 0 36 6 16.7 41 12 29.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.305122494 1.305122494 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 65057731 G T - - - - - - 32 0 0 36 11 30.6 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 65399698 T A HEPH CCDS14384.2 r.? - - intronic 36 0 0 39 7 17.9 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.438752784 1.438752784 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 65485382 C A HEPH CCDS14384.2 r.? - - intronic 32 0 0 35 7 20 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 65510980 T C - - - - - - 42 0 0 29 9 31 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.199226306 1.199226306 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-14 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 65861596 T A EDA2R CCDS14386.1 r.? - - upstream 26 0 0 28 7 25 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 65867005 G C - - - - - - 35 0 0 48 6 12.5 39 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000016 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 66013424 T A - - - - - - 30 0 0 36 8 22.2 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 66258292 C A - - - - - - 27 0 0 39 9 23.1 36 4 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 0.0000324 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 66353977 G T - - - - - - 32 0 0 38 14 36.8 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.423597679 1.423597679 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 5.28E-23 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 66367146 T C - - - - - - 34 0 0 37 10 27 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 66635908 C T - - - - - - 42 0 0 48 15 31.2 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 5 NA 1 1 2.86E-23 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 66711760 G T - - - - - - 30 0 0 40 8 20 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 66759522 T A AR CCDS14387.1 r.? - - upstream 25 0 0 40 10 25 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 67326431 C G OPHN1 CCDS14388.1 r.? - - intronic 29 0 0 36 5 13.9 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.537717602 0.537717602 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000104 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 67624973 A G OPHN1 CCDS14388.1 r.? - - intronic 30 0 0 48 15 31.2 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 2.86E-23 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 67774416 G T - - - - - - 38 0 0 39 5 12.8 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.49516441 0.49516441 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000156 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 67829088 C A - - - - - - 34 0 0 46 12 26.1 41 11 26.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.00967118 1.00967118 1 1.19376392 1.19376392 1 NA NA 1 NA NA 1 5 NA 1 1 8.12E-18 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 67849972 G T - - - - - - 24 0 0 29 8 27.6 20 3 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 0.0001337 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 67927196 C A STARD8 CCDS48134.1 r.? - - intronic 32 0 0 28 7 25 33 0 0 0 0 NA 2 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0 0 1 0 0 1 NA NA 1 3 NA 1 1 8.44E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 68195937 A G - - - - - - 28 0 0 35 7 20 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.429844098 1.429844098 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 68287276 T C - - - - - - 32 0 0 35 8 22.9 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 68357674 A G - - - - - - 28 0 0 40 8 20 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 68426434 T A - - - - - - 34 0 0 37 14 37.8 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.462282398 1.462282398 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-23 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 68441407 G A - - - - - - 15 0 0 21 5 23.8 6 1 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.920696325 0.920696325 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 5.95E-08 1 0.029627491 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 68449520 T A - - - - - - 28 0 0 35 13 37.1 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.435203095 1.435203095 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-21 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 68581665 A G - - - - - - 24 0 0 23 6 26.1 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.00967118 1.00967118 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-09 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 68649415 G T - - - - - - 40 0 0 43 10 23.3 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 68740517 C T FAM155B CCDS35317.1 r.? - - intronic 27 0 0 44 9 20.5 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.135857461 1.135857461 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 68907959 A G EDA CCDS14394.1 r.? - - intronic 39 0 0 35 12 34.3 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.32688588 1.32688588 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 69193824 A G EDA CCDS14394.1 r.? - - intronic 29 0 0 45 12 26.7 48 17 35.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 1.576837416 1.576837416 1 NA NA 1 NA NA 1 5 NA 1 1 6.03E-18 1 2.8E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 69262240 C A EDA CCDS14394.1 r.? - - downstream 39 0 0 48 16 33.3 36 4 11.1 252 0 0 173 37 21.4 77 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.494432071 0.494432071 1 0.827852998 0.827852998 1 0 0 1 5 5 1 1 2.96E-25 2.75E-48 0.0000324 1 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9776b X 69400832 G T DGAT2L6 CCDS14397.1 r.? - - intronic 32 0 0 41 7 17.1 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 69736701 G C - - - - - - 38 0 0 32 5 15.6 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000562 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 69785076 G A TEX11 CCDS35323.1 r.? - - intronic 32 0 0 40 12 30 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 69830490 A T TEX11 CCDS35323.1 r.? - - intronic 30 0 0 43 6 14 47 1 2.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.541586074 0.541586074 1 0.093541203 0.093541203 1 NA NA 1 NA NA 1 3 NA 1 1 8.13E-08 1 0.209895027 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 69834292 A T TEX11 CCDS35323.1 r.? - - intronic 28 0 0 35 8 22.9 32 12 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 1.670378619 1.670378619 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 69948812 A G TEX11 CCDS35323.1 r.? - - intronic 19 0 0 20 4 20 24 2 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000284 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 69974108 C G TEX11 CCDS35323.1 r.? - - intronic 28 0 0 31 8 25.8 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 70180451 T G - - - - - - 24 0 0 34 5 14.7 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.568665377 0.568665377 1 1.443207127 1.443207127 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 70181869 T A - - - - - - 46 0 0 43 15 34.9 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.350096712 1.350096712 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 4.05E-24 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 70181870 C A - - - - - - 45 0 0 42 15 35.7 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.381044487 1.381044487 1 1.407572383 1.407572383 1 NA NA 1 NA NA 1 5 NA 1 1 2.65E-24 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 70389343 C A NLGN3 CCDS14407.1 r.2205c>a c.1883C>A p.P628Q missense 24 0 0 31 10 32.3 26 8 30.8 197 0 0 220 61 27.7 12 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 1.371937639 1.371937639 1 1.071566731 1.071566731 1 0 0 1 5 5 1 1 3.94E-16 3.02E-86 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 70398077 T A - - - - - - 24 0 0 36 11 30.6 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 70528936 G C ITGB1BP2 CCDS14411.1 r.? - - downstream 16 0 0 36 10 27.8 51 17 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 9.59E-27 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 70665918 G T TAF1 CCDS35325.1 r.? - - intronic 24 0 0 44 9 20.5 41 3 7.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 0.325167038 0.325167038 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-12 1 0.001155993 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 70718873 G A TAF1 ENST00000437147 r.? - - intronic 22 0 0 31 11 35.5 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.373307544 1.373307544 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 71160718 G A - - - - - - 32 0 0 36 6 16.7 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 71283723 G C - - - - - - 17 0 0 34 7 20.6 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.796905222 0.796905222 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 3.73E-10 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 71317064 C G - - - - - - 34 0 0 47 15 31.9 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.234042553 1.234042553 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 1.97E-23 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 71755443 T C HDAC8 CCDS14420.1 r.? - - intronic 47 0 0 28 10 35.7 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.381044487 1.381044487 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 1.18E-16 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 72256909 T G - - - - - - 18 0 0 33 6 18.2 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 72564615 C T - - - - - - 29 0 0 35 8 22.9 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 72709061 T C - - - - - - 38 0 0 39 12 30.8 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 73196833 A T - - - - - - 31 0 0 36 8 22.2 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.398663697 1.398663697 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 73386775 G A - - - - - - 34 0 0 44 13 29.5 1 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 0 0 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 73510731 T G MIR545 ENST00000385085 r.? - - upstream 30 0 0 31 10 32.3 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 73585823 A G - - - - - - 22 0 0 26 7 26.9 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.040618956 1.040618956 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 73585824 C A - - - - - - 24 0 0 26 7 26.9 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.040618956 1.040618956 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 73856109 A T - - - - - - 32 0 0 31 10 32.3 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.249516441 1.249516441 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 3.94E-16 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 73930895 A G - - - - - - 24 0 0 42 14 33.3 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-22 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 74049418 T A KIAA2022 CCDS35337.1 r.? - - intronic 40 0 0 43 8 18.6 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 74137284 G C KIAA2022 CCDS35337.1 r.? - - intronic 23 0 0 37 8 21.6 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 74191175 A T - - - - - - 32 0 0 47 14 29.8 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.152804642 1.152804642 1 0.708240535 0.708240535 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 74216935 T C - - - - - - 32 0 0 37 10 27 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.044487427 1.044487427 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 1 1 3.01E-15 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 74471432 T A - - - - - - 24 0 0 39 7 17.9 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 74768627 G A - - - - - - 29 0 0 26 5 19.2 45 5 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.742746615 0.742746615 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000188 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 74830349 G A - - - - - - 38 1 2.6 49 14 28.6 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 0.173434892 1 3.5E-21 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 74894999 G T - - - - - - 29 0 0 36 7 19.4 28 3 10.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 0.476614699 0.476614699 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 0.000372895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 75132947 T A - - - - - - 24 0 0 35 9 25.7 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 75303243 A G - - - - - - 41 0 0 49 14 28.6 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 3.5E-21 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 75306711 T C - - - - - - 36 0 0 29 11 37.9 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.46615087 1.46615087 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 75312630 A T - - - - - - 37 0 0 46 13 28.3 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.094777563 1.094777563 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 5 NA 1 1 1.07E-19 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 75315324 T G - - - - - - 33 0 0 42 5 11.9 34 3 8.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.460348162 0.460348162 1 0.391982183 0.391982183 1 NA NA 1 NA NA 1 4 NA 1 1 0.00000228 1 0.000666058 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 75818229 C G - - - - - - 24 0 0 31 8 25.8 30 3 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 76131840 C T - - - - - - 38 0 0 38 11 28.9 21 2 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.423162584 0.423162584 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 76431293 G T - - - - - - 35 0 0 39 7 17.9 47 11 23.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.042316258 1.042316258 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 76562125 T C - - - - - - 31 0 0 27 6 22.2 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 4.23E-09 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 76750226 G T - - - - - - 34 0 0 38 6 15.8 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.611218569 0.611218569 1 1.407572383 1.407572383 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 76825180 T C ATRX CCDS14434.1 r.? - - intronic 31 0 0 33 8 24.2 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.936170213 0.936170213 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 76850996 G T ATRX CCDS14434.1 r.? - - intronic 47 0 0 35 7 20 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 76890181 C T ATRX CCDS14434.1 r.4928g>a c.4713G>A p.M1571I missense 33 0 0 41 10 24.4 47 14 29.8 102 0 0 57 8 14 80 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.327394209 1.327394209 1 0.541586074 0.541586074 1 0 0 1 5 3 1 1 9.51E-15 5.19E-10 1.79E-21 1 YES 1_1 1_0 somatic custom.pulldown.HiSeq PD9776b X 77214842 T C ATP7A CCDS35339.1 r.? - - intronic 48 0 0 38 7 18.4 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 77647002 T A - - - - - - 43 0 0 48 6 12.5 47 14 29.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 1.327394209 1.327394209 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000016 1 1.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 77701308 C A - - - - - - 24 0 0 24 4 16.7 16 6 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.670378619 1.670378619 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000613 1 1.2E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 77763620 G A - - - - - - 27 0 0 44 10 22.7 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 77811132 T C - - - - - - 30 0 0 43 5 11.6 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.448742747 0.448742747 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000257 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 77888428 A T - - - - - - 35 0 0 42 11 26.2 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.013539652 1.013539652 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 77973879 A T - - - - - - 20 0 0 35 9 25.7 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 78058839 G C - - - - - - 32 0 0 51 15 29.4 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.137330754 1.137330754 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 8.22E-23 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 78151231 A T - - - - - - 35 0 0 37 9 24.3 35 10 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 1.6E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 78188067 G C - - - - - - 39 0 0 34 13 38.2 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.477756286 1.477756286 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 1.03E-21 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 78284682 C A - - - - - - 35 0 0 31 8 25.8 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 78392331 T A - - - - - - 34 0 0 50 17 34 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.315280464 1.315280464 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 6.43E-27 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 78610012 G C - - - - - - 32 0 0 42 9 21.4 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 78659311 C A - - - - - - 40 0 0 29 6 20.7 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.800773694 0.800773694 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 78761248 G C - - - - - - 27 0 0 40 6 15 36 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.580270793 0.580270793 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 5.18E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 78837487 T C - - - - - - 35 0 0 38 7 18.4 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 79113615 G A - - - - - - 43 0 0 36 12 33.3 34 13 38.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.70155902 1.70155902 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 1.03E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 79477604 G A - - - - - - 25 0 0 42 8 19 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.735009671 0.735009671 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 3.96E-11 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 79479383 C A - - - - - - 30 0 0 28 7 25 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 79546865 C G - - - - - - 36 0 0 35 8 22.9 29 5 17.2 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 80048102 G C BRWD3 CCDS14447.1 r.? - - intronic 29 0 0 35 5 14.3 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.659242762 0.659242762 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 80117261 G C - - - - - - 44 0 0 32 6 18.8 44 5 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 0.5077951 0.5077951 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 80244016 C A - - - - - - 38 0 0 35 10 28.6 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 80328311 G T - - - - - - 40 0 0 41 14 34.1 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-22 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 80444129 C T HMGN5 CCDS14448.1 r.? - - intronic 28 0 0 37 8 21.6 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.835589942 0.835589942 1 1.714922049 1.714922049 1 NA NA 1 NA NA 1 5 NA 1 1 1.33E-11 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 80624582 C G - - - - - - 27 0 0 47 10 21.3 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.823984526 0.823984526 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 4.27E-14 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 80696239 T C - - - - - - 24 0 0 41 12 29.3 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 1.69E-18 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 80859726 T C - - - - - - 33 0 0 42 11 26.2 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.013539652 1.013539652 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-16 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 81016227 C G - - - - - - 34 0 0 45 13 28.9 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.654788419 0.654788419 1 NA NA 1 NA NA 1 5 NA 1 1 7.68E-20 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 81019442 C G - - - - - - 30 0 0 44 10 22.7 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 81055795 G A - - - - - - 48 0 0 36 7 19.4 53 12 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.750483559 0.750483559 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 5.74E-10 1 5.39E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 81395856 A G - - - - - - 31 0 0 32 7 21.9 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.847195358 0.847195358 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 81399579 C A - - - - - - 23 0 0 40 9 22.5 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 82034967 A T - - - - - - 36 0 0 44 13 29.5 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 82533085 A T - - - - - - 36 0 0 37 9 24.3 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 82548953 A C - - - - - - 43 0 0 39 4 10.3 46 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.398452611 0.398452611 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 0.0000447 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 82682696 C A - - - - - - 29 0 0 41 8 19.5 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.754352031 0.754352031 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-11 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 82795237 G T - - - - - - 32 0 0 45 9 20 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-12 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 82937628 T A - - - - - - 32 0 0 39 5 12.8 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.49516441 0.49516441 1 1.398663697 1.398663697 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000156 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 83005270 G T - - - - - - 33 0 0 39 11 28.2 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 83208726 A T - - - - - - 34 0 0 37 7 18.9 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 83751098 C A HDX CCDS35342.1 r.? - - intronic 38 0 0 36 11 30.6 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.183752418 1.183752418 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 2.62E-17 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 83866125 A G - - - - - - 32 0 0 43 8 18.6 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 83876701 C T - - - - - - 42 0 0 39 8 20.5 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.79303675 0.79303675 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 2.09E-11 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 84180139 G A - - - - - - 44 0 0 43 13 30.2 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.16827853 1.16827853 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-20 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 84441860 G C - - - - - - 28 0 0 49 14 28.6 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 3.5E-21 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 84472951 T C - - - - - - 37 0 0 39 15 38.5 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.489361702 1.489361702 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 6.85E-25 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 84560939 C T POF1B CCDS14452.1 r.? - - intronic 46 0 0 35 9 25.7 30 3 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 0.445434298 0.445434298 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 0.000458697 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 84578164 C A POF1B CCDS14452.1 r.? - - intronic 31 0 0 38 10 26.3 33 3 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 0.405345212 0.405345212 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 84871946 G T - - - - - - 32 0 0 45 14 31.1 28 7 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.203094778 1.203094778 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 8.81E-22 1 8.44E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 85382030 G T - - - - - - 34 0 0 26 5 19.2 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.742746615 0.742746615 1 1.581291759 1.581291759 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000188 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 85398067 T C - - - - - - 29 0 0 50 15 30 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 5.83E-23 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 85469061 C T DACH2 CCDS48140.1 r.? - - intronic 37 0 0 39 11 28.2 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.090909091 1.090909091 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 7.2E-17 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 85620054 A T DACH2 CCDS48140.1 r.? - - intronic 38 0 0 50 11 22 50 13 26 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.85106383 0.85106383 1 1.158129176 1.158129176 1 NA NA 1 NA NA 1 5 NA 1 1 1.52E-15 1 3.65E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 85847783 G A DACH2 CCDS48140.1 r.? - - intronic 36 0 0 36 10 27.8 47 15 31.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.075435203 1.075435203 1 1.420935412 1.420935412 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 1.97E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 86039359 A G DACH2 CCDS48140.1 r.? - - intronic 32 0 0 37 12 32.4 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 86336753 T C - - - - - - 24 0 0 28 8 28.6 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 86621371 A C - - - - - - 42 0 0 40 11 27.5 39 13 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 8.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 86644829 C T - - - - - - 38 0 0 44 13 29.5 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.141199226 1.141199226 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 5 NA 1 1 5.49E-20 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 87229804 G A - - - - - - 26 0 0 35 9 25.7 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.994197292 0.994197292 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 1.23E-13 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 87235903 G C - - - - - - 35 0 0 39 7 17.9 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 87355341 C G - - - - - - 33 0 0 35 10 28.6 39 10 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 1.6E-15 1 5.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 87409270 C A - - - - - - 33 0 0 30 9 30 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 87413982 T C - - - - - - 33 0 0 39 12 30.8 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.191489362 1.191489362 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 8.43E-19 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 87436592 G A - - - - - - 33 0 0 48 11 22.9 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 9.31E-16 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 87576768 A T - - - - - - 35 0 0 40 10 25 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.757238307 0.757238307 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 87756079 C T - - - - - - 26 0 0 36 12 33.3 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 87765907 A T - - - - - - 24 0 0 42 6 14.3 33 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 7.02E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 87804754 C T - - - - - - 37 0 0 40 12 30 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-18 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 88546737 A T - - - - - - 13 0 0 16 6 37.5 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.450676983 1.450676983 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-10 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 88691374 C G - - - - - - 30 0 0 18 4 22.2 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000181 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 88768000 G T - - - - - - 37 0 0 45 8 17.8 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.688588008 0.688588008 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 7.14E-11 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 88919016 G T - 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- - - - - 34 0 0 35 8 22.9 44 15 34.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 1.518930958 1.518930958 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 89469334 T A - - - - - - 32 1 3.1 27 10 37 24 3 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.431334623 1.431334623 1 0.556792873 0.556792873 1 NA NA 1 NA NA 1 5 NA 0.14819814 1 7.62E-17 1 0.000233853 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 89503882 C G - - - - - - 24 0 0 40 9 22.5 32 3 9.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.418708241 0.418708241 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 0.000556213 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 89715642 A T - - - - - - 33 0 0 32 8 25 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 89935926 G A - 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- - - - - 34 0 0 29 8 27.6 19 7 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.067698259 1.067698259 1 1.639198218 1.639198218 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 3.73E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 90409377 A C - - - - - - 26 0 0 36 4 11.1 24 2 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.429400387 0.429400387 1 0.369710468 0.369710468 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000324 1 0.006413403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 90482864 A C - - - - - - 38 0 0 38 8 21.1 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 90553599 C A - - - - - - 21 0 0 31 8 25.8 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.998065764 0.998065764 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 90701858 A G - - - - - - 36 0 0 36 6 16.7 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 90785909 T A - - - - - - 20 0 0 23 7 30.4 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.176015474 1.176015474 1 1.621380846 1.621380846 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-11 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 90864991 G A - - - - - - 28 0 0 58 17 29.3 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.133462282 1.133462282 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-25 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 90952144 G A - - - - - - 34 0 0 35 14 40 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.547388781 1.547388781 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 1.28E-23 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 91000382 G C - - - - - - 41 0 0 24 6 25 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.95E-09 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 91465821 G T PCDH11X CCDS14461.1 r.? - - intronic 27 0 0 33 10 30.3 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.172147002 1.172147002 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 8.14E-16 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 91563624 G T PCDH11X CCDS14461.1 r.? - - intronic 39 0 0 51 10 19.6 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.758220503 0.758220503 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-13 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 92016350 T C - - - - - - 42 0 0 47 14 29.8 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.152804642 1.152804642 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-21 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 92298459 G T - - - - - - 26 0 0 27 7 25.9 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.001934236 1.001934236 1 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 6.36E-11 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 92377300 G A - - - - - - 32 0 0 42 14 33.3 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-22 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 92412332 T C - - - - - - 26 0 0 47 15 31.9 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.234042553 1.234042553 1 1.318485523 1.318485523 1 NA NA 1 NA NA 1 5 NA 1 1 1.97E-23 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 92626532 C A - - - - - - 31 0 0 29 7 24.1 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.932301741 0.932301741 1 0.516703786 0.516703786 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-10 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 92929499 G A FAM133A CCDS14466.1 r.? - - intronic 39 0 0 44 11 25 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 3.22E-16 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 93137639 A C - - - - - - 35 0 0 36 8 22.2 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 93192197 A G - - - - - - 35 0 0 23 6 26.1 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.00967118 1.00967118 1 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-09 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 93325035 C G - - - - - - 29 0 0 43 16 37.2 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.439071567 1.439071567 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 3.56E-26 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 93471199 T A - - - - - - 30 0 0 28 12 42.9 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.659574468 1.659574468 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 6.9E-21 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 93650910 T C - - - - - - 30 0 0 35 11 31.4 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.214700193 1.214700193 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 93710043 G T - - - - - - 38 0 0 34 6 17.6 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 1 1 1.86E-08 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 93761906 G T - - - - - - 39 0 0 42 9 21.4 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 7.51E-13 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 93857285 A C - - - - - - 46 0 0 37 9 24.3 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 93894023 A T - - - - - - 25 0 0 29 6 20.7 28 9 32.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.800773694 0.800773694 1 1.429844098 1.429844098 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 93943208 A T - - - - - - 40 0 0 43 10 23.3 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.251670379 1.251670379 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 94133966 G A - - - - - - 38 0 0 34 6 17.6 40 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.680851064 0.680851064 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 1.86E-08 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 94165156 C G - - - - - - 32 0 0 52 14 26.9 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.040618956 1.040618956 1 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 9.04E-21 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 94289480 A G - - - - - - 35 0 0 42 5 11.9 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.460348162 0.460348162 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000228 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 94382405 C A - - - - - - 35 0 0 38 11 28.9 28 5 17.9 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.797327394 0.797327394 1 NA NA 1 0 0 1 5 NA 1 1 5.19E-17 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 94519992 A T - - - - - - 36 0 0 46 15 32.6 41 16 39 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.261121857 1.261121857 1 1.737193764 1.737193764 1 NA NA 1 NA NA 1 5 NA 1 1 1.35E-23 1 1.4E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 94557321 C A - - - - - - 40 0 0 43 8 18.6 34 2 5.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 0.262806236 0.262806236 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 0.012612579 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 94629342 A T - - - - - - 39 0 0 43 17 39.5 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.528046422 1.528046422 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.84E-28 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 94656322 C T - - - - - - 39 0 0 31 9 29 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 94836690 C G - - - - - - 30 0 0 32 6 18.8 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 0.592427617 0.592427617 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 94898330 T C - - - - - - 38 0 0 42 7 16.7 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 1.81E-09 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 94912494 C T - - - - - - 28 0 0 38 7 18.4 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.711798839 0.711798839 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 94992417 G C - - - - - - 32 0 0 36 9 25 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 94993929 C T - - - - - - 30 0 0 43 12 27.9 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 0.779510022 0.779510022 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 95205699 T C - - - - - - 42 0 0 32 10 31.2 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.20696325 1.20696325 1 1.648106904 1.648106904 1 NA NA 1 NA NA 1 5 NA 1 1 5.7E-16 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 95215171 C T - - - - - - 36 0 0 48 13 27.1 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.048355899 1.048355899 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 2E-19 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 95687521 G A - - - - - - 44 0 0 36 9 25 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 1.63E-13 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 95792246 C T - - - - - - 34 0 0 46 10 21.7 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.839458414 0.839458414 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 3.38E-14 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 95964263 C T DIAPH2 CCDS14467.1 r.? - - intronic 47 0 0 44 12 27.3 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 95999979 T G DIAPH2 CCDS14467.1 r.? - - intronic 30 0 0 40 11 27.5 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 96002396 C T DIAPH2 CCDS14467.1 r.? - - intronic 30 0 0 41 11 26.8 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 96172135 T A DIAPH2 CCDS14467.1 r.? - - intronic 39 0 0 37 11 29.7 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.14893617 1.14893617 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 3.7E-17 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 96485783 C A DIAPH2 CCDS14467.1 r.? - - intronic 27 0 0 30 7 23.3 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-10 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 96507802 C T DIAPH2 CCDS14467.1 r.? - - intronic 37 0 0 38 10 26.3 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.017408124 1.017408124 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 5 NA 1 1 4.06E-15 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 96682210 T A DIAPH2 CCDS14467.1 r.? - - intronic 34 0 0 32 7 21.9 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.847195358 0.847195358 1 1.247216036 1.247216036 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 96795249 T A DIAPH2 CCDS14467.1 r.? - - intronic 32 0 0 48 12 25 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.44E-17 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 96858257 A T DIAPH2 CCDS14467.1 r.7594a>u c.? p.? 3'UTR variant 44 0 0 54 17 31.5 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.218568665 1.218568665 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 3.02E-26 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 97328500 G T - - - - - - 42 0 0 32 13 40.6 47 14 29.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.570599613 1.570599613 1 1.327394209 1.327394209 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-22 1 1.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 97418546 A T - - - - - - 32 0 0 45 11 24.4 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 5 NA 1 1 4.24E-16 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 97462917 G C - - - - - - 32 0 0 40 8 20 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.523385301 1.523385301 1 NA NA 1 NA NA 1 5 NA 1 1 2.61E-11 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 97565319 C G - - - - - - 41 0 0 31 7 22.6 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 1.167037862 1.167037862 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 97621694 A T - - - - - - 40 0 0 41 11 26.8 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 0.779510022 0.779510022 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 97717444 C T - - - - - - 21 0 0 42 14 33.3 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 2.83E-22 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 97749751 T A - - - - - - 40 0 0 33 11 33.3 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 98226376 A T - - - - - - 47 0 0 39 13 33.3 38 12 31.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.407572383 1.407572383 1 NA NA 1 NA NA 1 5 NA 1 1 8.79E-21 1 5.86E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 98553417 A G - - - - - - 27 0 0 40 10 25 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 7.22E-15 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 98808376 C T - - - - - - 32 0 0 39 6 15.4 47 7 14.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 0.663697105 0.663697105 1 NA NA 1 NA NA 1 5 NA 1 1 4.43E-08 1 4.12E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 99009223 C G - - - - - - 42 0 0 43 11 25.6 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.99032882 0.99032882 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 2.42E-16 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 99020720 T A - - - - - - 36 0 0 28 6 21.4 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.144766147 1.144766147 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 99194336 G A - - - - - - 30 0 0 32 6 18.8 44 9 20.5 0 0 NA 1 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 0.913140312 0.913140312 1 0 0 1 NA NA 1 5 NA 1 1 1.27E-08 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 99266310 A T - - - - - - 28 0 0 43 20 46.5 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.798839458 1.798839458 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 8.21E-35 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 99365318 T G - - - - - - 31 0 0 39 9 23.1 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.893617021 0.893617021 1 0.792873051 0.792873051 1 NA NA 1 NA NA 1 5 NA 1 1 3.62E-13 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 99445304 G A - - - - - - 24 0 0 43 13 30.2 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.16827853 1.16827853 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-20 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 99459137 T A - - - - - - 32 0 0 37 9 24.3 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.940038685 0.940038685 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 99459139 T A - - - - - - 39 0 0 38 11 28.9 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.117988395 1.117988395 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 5.19E-17 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 99547616 C A PCDH19 CCDS43976.1 r.8641g>u c.? p.? 3'UTR variant 27 0 0 31 9 29 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 99606475 G T PCDH19 CCDS43976.1 r.? - - intronic 37 0 0 33 5 15.2 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.588007737 0.588007737 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000066 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 99681643 T C - - - - - - 33 0 0 43 12 27.9 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.079303675 1.079303675 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 3.24E-18 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 99820300 G T - - - - - - 20 0 0 36 8 22.2 40 15 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.670378619 1.670378619 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 1.09E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 99849457 C A TNMD CCDS14469.1 r.? - - intronic 37 0 0 35 8 22.9 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.885880077 0.885880077 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 5 NA 1 1 8.15E-12 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 99953301 C T SYTL4 CCDS14472.1 r.? - - intronic 27 0 0 46 14 30.4 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.176015474 1.176015474 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 1.26E-21 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 100034372 T C - - - - - - 31 0 0 31 9 29 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.121856867 1.121856867 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 3.57E-14 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 100640544 C T BTK CCDS14482.1 r.? - - intronic 33 0 0 38 13 34.2 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.323017408 1.323017408 1 0.659242762 0.659242762 1 NA NA 1 NA NA 1 5 NA 1 1 5.88E-21 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 100843480 C T - - - - - - 34 0 0 34 8 23.5 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.909090909 0.909090909 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 6.32E-12 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 101000843 A T - - - - - - 47 0 0 43 5 11.6 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.448742747 0.448742747 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000257 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 101058451 C G - - - - - - 39 0 0 35 7 20 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 4.65E-10 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 101824296 A G - - - - - - 35 0 0 31 7 22.6 34 12 35.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.874274662 0.874274662 1 1.572383073 1.572383073 1 NA NA 1 NA NA 1 5 NA 1 1 1.85E-10 1 1.21E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 101960352 T G - - - - - - 32 0 0 39 7 17.9 31 3 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 0.432071269 0.432071269 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 0.000505952 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 101984458 A C BHLHB9 CCDS14502.1 r.? - - intronic 37 0 0 40 9 22.5 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.87040619 0.87040619 1 0.792873051 0.792873051 1 NA NA 1 NA NA 1 5 NA 1 1 4.64E-13 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 102205887 T A ENSG00000226623 ENST00000416953 r.? - - intronic 27 0 0 40 11 27.5 28 2 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.063829787 1.063829787 1 0.316258352 0.316258352 1 NA NA 1 NA NA 1 5 NA 1 1 9.88E-17 1 0.008668191 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 102264599 A G ENSG00000226623 ENST00000416953 r.? - - intronic 28 0 0 37 12 32.4 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.253384913 1.253384913 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 4.03E-19 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 102602846 C A - - - - - - 27 0 0 27 9 33.3 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.363028953 1.363028953 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 102695693 G T - - - - - - 40 0 0 47 7 14.9 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.576402321 0.576402321 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 4.12E-09 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 102726566 A T - - - - - - 30 0 0 41 14 34.1 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.319148936 1.319148936 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-22 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 103012443 A T - - - - - - 27 0 0 37 14 37.8 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.462282398 1.462282398 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 3.35E-23 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 103222783 A G - - - - - - 31 0 0 53 11 20.8 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 0.864142539 0.864142539 1 NA NA 1 NA NA 1 5 NA 1 1 3.07E-15 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 103461319 G A - - - - - - 34 0 0 30 10 33.3 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 103899891 G A IL1RAPL2 CCDS14517.1 r.? - - intronic 32 0 0 32 13 40.6 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.164599613 1.164599613 1 0.932672606 0.932672606 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-22 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 103998022 A G IL1RAPL2 CCDS14517.1 r.? - - intronic 29 0 0 34 17 50 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.64E-30 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 104024126 T G IL1RAPL2 CCDS14517.1 r.? - - intronic 37 0 0 33 6 18.2 36 11 30.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 1.057028953 1.057028953 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 2.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 104446138 T C IL1RAPL2 CCDS14517.1 r.? - - intronic 46 0 0 16 6 37.5 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.932672606 0.932672606 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-10 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 104662813 T C IL1RAPL2 CCDS14517.1 r.? - - intronic 32 0 0 19 6 31.6 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.906437137 0.906437137 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 5 NA 1 1 4.01E-10 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 104746124 C A IL1RAPL2 CCDS14517.1 r.? - - intronic 43 0 0 29 6 20.7 29 1 3.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.593773694 0.593773694 1 0.117447661 0.117447661 1 NA NA 1 NA NA 1 3 NA 1 1 6.72E-09 1 0.135292269 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 105242867 A C - - - - - - 37 0 0 34 9 26.5 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.760145068 0.760145068 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 9.15E-14 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 105297578 G A - - - - - - 35 0 0 27 7 25.9 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.742934236 0.742934236 1 0.884311804 0.884311804 1 NA NA 1 NA NA 1 5 NA 1 1 6.36E-11 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 105591213 G T - - - - - - 41 0 0 32 12 37.5 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 105734672 G A - - - - - - 27 0 0 25 8 32 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.917911025 0.917911025 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 105855407 G C CXorf57 CCDS14519.1 r.206g>c c.97G>C p.V33L missense 37 0 0 30 13 43.3 16 5 31.2 191 0 0 114 42 36.8 85 5 5.9 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.242048356 1.242048356 1 1.077755011 1.077755011 1 1.055597679 1.055597679 1 0.203806236 0.203806236 1 5 5 1 1 1.35E-22 4.73E-66 0.000000013 0.0000735 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b X 106255537 G A - - - - - - 21 0 0 27 8 29.6 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 1.226291759 1.226291759 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 107235536 C G - - - - - - 34 0 0 26 9 34.6 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 107764067 T C COL4A5 CCDS35366.1 r.? - - intronic 35 0 0 42 13 31 29 13 44.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.889226306 0.889226306 1 1.547545657 1.547545657 1 NA NA 1 NA NA 1 5 NA 1 1 2.72E-20 1 7.69E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 108305692 C A - - - - - - 36 0 0 31 8 25.8 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.740065764 0.740065764 1 0.559603563 0.559603563 1 NA NA 1 NA NA 1 5 NA 1 1 2.78E-12 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 110431674 C T PAK3 CCDS48153.1 r.? - - intronic 38 0 0 36 10 27.8 21 9 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.797435203 0.797435203 1 1.48191314 1.48191314 1 NA NA 1 NA NA 1 5 NA 1 1 2.21E-15 1 5.44E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 110512254 A G CAPN6 CCDS14555.1 r.? - - intronic 32 0 0 28 6 21.4 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.613852998 0.613852998 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 110638174 G C DCX CCDS14556.1 r.? - - intronic 35 0 0 29 11 37.9 27 12 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.08715087 1.08715087 1 1.533728285 1.533728285 1 NA NA 1 NA NA 1 5 NA 1 1 1.56E-18 1 3.96E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 110662598 A G - - - - - - 41 0 0 30 10 33.3 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.932672606 0.932672606 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 110680000 T C - - - - - - 47 0 0 19 10 52.6 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.508816248 1.508816248 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 8.66E-19 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 111259812 A G TRPC5 CCDS14561.1 r.? - - intronic 26 0 0 24 12 50 25 12 48 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.658084633 1.658084633 1 NA NA 1 NA NA 1 5 NA 1 1 6.25E-22 1 1.2E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 111458628 C T - - - - - - 38 0 0 27 7 25.9 27 0 0 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.742934236 0.742934236 1 0 0 1 NA NA 1 NA NA 1 3 NA 1 1 6.36E-11 1 1 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 111722426 T A - - - - - - 30 0 0 29 14 48.3 31 10 32.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.385471954 1.385471954 1 1.115752784 1.115752784 1 NA NA 1 NA NA 1 5 NA 1 1 4.41E-25 1 3.94E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 111865211 C A - - - - - - 30 0 0 22 8 36.4 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.044123791 1.044123791 1 1.070846325 1.070846325 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-13 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 112495243 A T - 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- - - - - 35 0 0 32 12 37.5 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.03E-20 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 141045057 C T - - - - - - 39 0 0 25 14 56 35 14 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.606344294 1.606344294 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 2.58E-26 1 1.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 141505168 A G - - - - - - 34 0 0 28 7 25 23 9 39.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 1.350648107 1.350648107 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 1.5E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 141594708 C A - - - - - - 30 0 0 24 9 37.5 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 0.835951002 0.835951002 1 NA NA 1 NA NA 1 5 NA 1 1 2.39E-15 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 141751436 G T - - - - - - 36 0 0 29 10 34.5 26 5 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 0.663233853 0.663233853 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 0.000000188 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 142299494 C A - - - - - - 31 0 0 25 9 36 25 7 28 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 0.967216036 0.967216036 1 NA NA 1 0 0 1 5 NA 1 1 3.71E-15 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 142601190 C T SPANXN3 CCDS35418.1 r.? - - intronic 34 0 0 32 13 40.6 27 11 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.164599613 1.164599613 1 1.405917595 1.405917595 1 NA NA 1 NA NA 1 5 NA 1 1 3.88E-22 1 5.92E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 142971226 G T UBE2NL CCDS35420.1 r.? - - downstream 31 0 0 26 9 34.6 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.992491296 0.992491296 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 5.65E-15 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 142994755 G T - - - - - - 48 0 0 32 11 34.4 21 2 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.986754352 0.986754352 1 0.328162584 0.328162584 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 0.004928472 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 143130859 G C - - - - - - 40 0 0 24 5 20.8 21 10 47.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.596642166 0.596642166 1 1.644267261 1.644267261 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 3.28E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 143297133 C T - - - - - - 34 0 0 29 8 27.6 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.791698259 0.791698259 1 0.576875278 0.576875278 1 NA NA 1 NA NA 1 5 NA 1 1 1.53E-12 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 143378507 C G - - - - - - 39 0 0 34 19 55.9 35 13 37.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.603475822 1.603475822 1 1.281561247 1.281561247 1 NA NA 1 NA NA 1 5 NA 1 1 3.3E-35 1 1.63E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 143487591 G A - - - - - - 38 0 0 31 15 48.4 15 4 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.388340426 1.388340426 1 0.922309577 0.922309577 1 NA NA 1 NA NA 1 5 NA 1 1 8.51E-27 1 0.000000816 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 143559466 G T - - - - - - 34 0 0 25 10 40 28 10 35.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.233200445 1.233200445 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 1.18E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 143875489 A G - - - - - - 40 0 0 16 6 37.5 38 15 39.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.075676983 1.075676983 1 1.364465479 1.364465479 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-10 1 4.24E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 143942421 A G - - - - - - 33 0 0 25 10 40 27 11 40.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.405917595 1.405917595 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-17 1 5.92E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 143946561 A C - - - - - - 45 0 0 24 10 41.7 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.196152805 1.196152805 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 1.8E-17 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 144034048 C A - - - - - - 36 0 0 38 7 18.4 31 13 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.527798839 0.527798839 1 1.44736971 1.44736971 1 NA NA 1 NA NA 1 5 NA 1 1 8.61E-10 1 2.32E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 144173682 T A - - - - - - 44 0 0 23 6 26.1 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.74867118 0.74867118 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-09 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 144277894 C T - - - - - - 42 0 0 42 18 42.9 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.230574468 1.230574468 1 0.89122049 0.89122049 1 NA NA 1 NA NA 1 5 NA 1 1 1.2E-30 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 144811148 C A - - - - - - 33 0 0 30 11 36.7 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.052729207 1.052729207 1 1.329922049 1.329922049 1 NA NA 1 NA NA 1 5 NA 1 1 2.44E-18 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 144812327 G A - - - - - - 43 0 0 22 9 40.9 35 3 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.173205029 1.173205029 1 0.297073497 0.297073497 1 NA NA 1 NA NA 1 5 NA 1 1 9.16E-16 1 0.000725791 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 145510478 A T - - - - - - 26 0 0 26 11 42.3 31 11 35.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.213363636 1.213363636 1 1.226291759 1.226291759 1 NA NA 1 NA NA 1 5 NA 1 1 3.52E-19 1 3.77E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 145513933 G T - - - - - - 41 0 0 31 11 35.5 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.018307544 1.018307544 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 3.77E-18 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 145677728 C A - - - - - - 42 0 0 28 9 32.1 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.920779497 0.920779497 1 1.084663697 1.084663697 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 145943087 A G - - - - - - 34 0 0 33 13 39.4 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.13017795 1.13017795 1 0.618327394 0.618327394 1 NA NA 1 NA NA 1 5 NA 1 1 6.37E-22 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 146002249 T A - - - - - - 36 0 0 35 11 31.4 25 8 32 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.900700193 0.900700193 1 1.105389755 1.105389755 1 NA NA 1 NA NA 1 5 NA 1 1 1.82E-17 1 3.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 146053421 C A - - - - - - 41 0 0 28 6 21.4 17 4 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.613852998 0.613852998 1 0.811770601 0.811770601 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 146476153 T A - - - - - - 31 0 0 32 7 21.9 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.628195358 0.628195358 1 0.72886637 0.72886637 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 146602844 C T - - - - - - 26 0 0 21 8 38.1 25 13 52 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.092887814 1.092887814 1 1.796258352 1.796258352 1 NA NA 1 NA NA 1 5 NA 1 1 7.5E-14 1 6E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 146887758 G C - - - - - - 38 0 0 27 8 29.6 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 147194296 T C - - - - - - 38 0 0 37 13 35.1 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.006833656 1.006833656 1 0.746138085 0.746138085 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-21 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 147704108 C A AFF2 CCDS14684.1 r.? - - intronic 35 0 0 36 12 33.3 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.336830735 1.336830735 1 NA NA 1 NA NA 1 5 NA 1 1 2.73E-19 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 147789204 T G AFF2 CCDS14684.1 r.? - - intronic 35 0 0 35 12 34.3 26 11 42.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.98388588 0.98388588 1 1.461187082 1.461187082 1 NA NA 1 NA NA 1 5 NA 1 1 1.83E-19 1 3.52E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 147927347 A T AFF2 CCDS14684.1 r.? - - intronic 39 0 0 32 9 28.1 21 8 38.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.806040619 0.806040619 1 1.316104677 1.316104677 1 NA NA 1 NA NA 1 5 NA 1 1 4.94E-14 1 7.5E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 148073165 C A AFF2 CCDS14684.1 r.4718c>a c.? p.? 3'UTR variant 35 1 2.9 31 12 38.7 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.110098646 1.110098646 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 0.16091139 1 3.16E-20 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 148352238 C T - - - - - - 27 0 0 29 14 48.3 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.385471954 1.385471954 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 4.41E-25 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 148440338 T C - - - - - - 26 0 0 38 12 31.6 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.906437137 0.906437137 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 5.86E-19 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 148554499 C T IDS CCDS14685.1 r.? - - downstream 44 0 0 26 15 57.7 26 11 42.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.655108317 1.655108317 1 1.461187082 1.461187082 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-28 1 3.52E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 149304242 T C - - - - - - 35 0 0 29 10 34.5 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 0.970670379 0.970670379 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 150322347 A T - - - - - - 31 0 0 25 9 36 20 7 35 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.032649903 1.032649903 1 1.209020045 1.209020045 1 NA NA 1 NA NA 1 5 NA 1 1 3.71E-15 1 5.72E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 150373088 G T - - - - - - 31 0 0 30 10 33.3 37 12 32.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.119207127 1.119207127 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-16 1 4.03E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 151790568 T C - - - - - - 36 0 0 32 8 25 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.887766147 0.887766147 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 152095951 G A ZNF185 CCDS48184.1 r.? - - intronic 28 0 0 27 9 33.3 35 11 31.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.084663697 1.084663697 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-15 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 152572144 C A - - - - - - 18 0 0 33 11 33.3 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 8.54E-18 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 152601516 G C ZNF275 CCDS48188.1 r.? - - intronic 36 0 0 41 14 34.1 29 3 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.978148936 0.978148936 1 0.355797327 0.355797327 1 NA NA 1 NA NA 1 5 NA 1 1 1.9E-22 1 0.000414371 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 153037321 C T PLXNB3 CCDS14729.1 r.2634c>u c.2520C>T p.V840V silent 26 0 0 27 10 37 9 4 44.4 166 1 0.6 182 46 25.3 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.061334623 1.061334623 1 1.533728285 1.533728285 1 0.725723404 0.725723404 1 NA NA 1 5 NA 1 0.564857599 7.62E-17 2.4E-63 7.72E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 153063678 C G PDZD4 CCDS14732.1 r.? - - downstream 25 0 0 25 14 56 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.606344294 1.606344294 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 2.58E-26 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 153258039 C G - - - - - - 29 0 0 26 5 19.2 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.550746615 0.550746615 1 0.832496659 0.832496659 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000188 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 154208879 T G F8 CCDS35457.1 r.? - - intronic 36 0 0 28 8 28.6 20 5 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.820382979 0.820382979 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 154274921 G T FUNDC2 CCDS14763.1 r.? - - intronic 24 0 0 27 15 55.6 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.594870406 1.594870406 1 0.445610245 0.445610245 1 NA NA 1 NA NA 1 5 NA 1 1 5.01E-28 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 154533755 A G CLIC2 CCDS14767.1 r.? - - intronic 31 0 0 12 4 33.3 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.955201161 0.955201161 1 0.929218263 0.929218263 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000003 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 154875042 C A - - - - - - 24 0 0 27 8 29.6 26 8 30.8 0 0 NA 0 0 NA 0 0 NA FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 NA NA 1 NA NA 1 NA NA 1 NA NA 1 1 7.97E-13 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 18828174 C T CACNB2 CCDS7125.1 r.1564c>u c.1504C>T p.Q502* nonsense 30 0 0 53 4 7.5 42 6 14.3 203 0 0 215 11 5.1 86 9 10.5 TRUE TRUE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0.377931592 0.377931592 1 0.823946981 0.823946981 1 0.256993483 1.506268886 0.170615941 0.604996035 0.604996035 1 5 6 1 1 0.000150502 1.68E-08 7.02E-08 6.35E-10 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 10 129608036 A T - - - - - - 32 0 0 46 2 4.3 23 3 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.166344294 0.166344294 1 0.579064588 0.579064588 1 NA NA 1 NA NA 1 2 NA 1 1 0.022369545 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 26277974 T C - - - - - - 39 0 0 40 5 12.5 35 4 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.608558994 0.608558994 1 0.6217951 0.6217951 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000178 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 129330151 G A - - - - - - 9 0 0 22 5 22.7 18 4 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 5 NA 1 1 7.67E-08 1 0.00000181 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 20213757 G T - - - - - - 12 0 0 29 1 3.4 17 3 17.6 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.131528046 0.131528046 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 2 NA 1 1 0.135292269 1 0.0000807 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 420149 C A - - - - - - 58 0 0 66 2 3 49 5 10.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.146054159 0.146054159 1 0.556342984 0.556342984 1 NA NA 1 NA NA 1 2 NA 1 1 0.043431387 1 0.00000496 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 37304229 G C - - - - - - 39 0 0 59 0 0 53 4 7.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0 0 1 0.259075724 0.259075724 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.000150502 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 62634342 C A - - - - - - 28 0 0 33 0 0 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.431792873 0.431792873 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 60421472 T A - - - - - - 49 0 0 71 2 2.8 65 4 6.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 0.169248909 0.960921097 0.176131953 0.400169265 0.400169265 1 NA NA 1 NA NA 1 5 NA 1 1 0.04950591 1 0.000331785 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 46914512 A C FAM35B ENST00000301038 r.? - - intronic 10 0 0 14 1 7.1 9 3 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.203661509 0.203661509 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.067769881 1 0.0000103 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 43691168 C G - - - - - - 23 0 0 15 0 0 23 3 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.449064588 0.449064588 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 61417071 C T TANC2 CCDS45754.1 r.? - - intronic 32 0 0 45 0 0 55 6 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.594523385 0.594523385 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000000367 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 18532514 G T - - - - - - 35 0 0 33 7 21.2 41 7 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.820116054 0.820116054 1 0.76169265 0.76169265 1 NA NA 1 NA NA 1 5 NA 1 1 2.98E-10 1 1.51E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 20727134 C G USP41 ENST00000454608 r.? - - intronic 11 0 0 20 0 0 18 3 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000964 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 21751663 C T - - - - - - 8 0 0 6 2 33.3 10 4 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.288201161 1.288201161 1 1.781737194 1.781737194 1 NA NA 1 NA NA 1 5 NA 1 1 0.000370028 1 0.000000128 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 10844978 G T - - - - - - 17 0 0 42 2 4.8 51 10 19.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.281686654 0.281686654 1 1.265051225 1.265051225 1 NA NA 1 NA NA 1 5 NA 1 1 0.018854633 1 1.04E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 102136353 C G RASA4B ENST00000481893 r.? - - intronic 10 0 0 21 4 19 15 3 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.651677808 3.129724922 1 2 1 1 0.348322192 0.870275078 2 2 1 2 0.651677808 0.129724922 0.858828455 0.858828455 1 1.116813581 1.116813581 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000349 1 0.0000544 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 134967087 C G SAGE1 CCDS14652.1 r.? - - upstream 8 0 0 7 0 0 11 4 36.4 0 0 NA 2 2 100 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.257380846 1.257380846 1 2.868471954 2.868471954 1 NA NA 1 5 NA 1 1 1 0.000025 0.000000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 68575727 G T WLS CCDS30750.1 r.? - - intronic 21 0 0 24 4 16.7 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.775831835 0.775831835 1 1.445400891 1.445400891 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000613 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 1635377 C T ADARB2 CCDS7058.1 r.? - - intronic 16 0 0 22 6 27.3 16 4 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.471871152 4 4 0 0 1 0.528128848 NA 5 NA 0 NA 0.471871152 1.602092843 1.602092843 1 1.731553534 1.731553534 1 NA NA 1 NA NA 1 5 NA 1 1 1.09E-09 1 0.00000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 119272723 G T - - - - - - 39 0 0 41 1 2.4 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.092843327 0.092843327 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 1 NA 1 1 0.18577148 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 3220487 A G - - - - - - 45 0 0 41 1 2.4 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.092843327 0.092843327 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 1 NA 1 1 0.18577148 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 80411982 A G CTNNA2 CCDS42703.2 r.? - - intronic 42 0 0 37 0 0 29 4 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.614699332 0.614699332 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000134 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 25255013 C A - - - - - - 21 0 0 39 6 15.4 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.749744681 0.749744681 1 0.801788419 0.801788419 1 NA NA 1 NA NA 1 5 NA 1 1 4.43E-08 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 2744327 T C AMZ1 CCDS34589.1 r.? - - intronic 32 0 0 31 1 3.2 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.091791103 0.091791103 1 0.594146993 0.594146993 1 NA NA 1 NA NA 1 1 NA 1 1 0.143917729 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 62734116 C T - - - - - - 24 0 0 30 9 30 20 4 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.160541586 1.160541586 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 211311359 G T KCNH1 CCDS31015.1 r.? - - upstream 26 0 0 38 0 0 38 4 10.5 140 0 0 62 0 0 196 32 16.3 TRUE TRUE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0 0 1 0.467706013 0.467706013 1 0 0 1 0.726057906 0.726057906 1 1 1 1 1 1 1 0.0000403 6.16E-38 YES 0_0 1_1 somatic custom.pulldown.HiSeq PD9776b 10 51481053 T C AGAP7 CCDS41524.1 r.? - - intronic 9 0 0 4 2 50 10 4 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.434235977 1.434235977 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 5 NA 1 1 0.000149002 1 0.000000128 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 105520585 G T SH3PXD2A CCDS31278.1 r.? - - intronic 31 0 0 32 1 3.1 35 4 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.088922631 0.088922631 1 0.3937951 0.3937951 1 NA NA 1 NA NA 1 1 NA 1 1 0.14819814 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 1870834 G T LSP1 CCDS31334.1 r.? - - upstream 17 0 0 17 2 11.8 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.456479691 0.456479691 1 1.162583519 1.162583519 1 NA NA 1 NA NA 1 5 NA 1 1 0.003234386 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 48909611 G T - - - - - - 17 0 0 7 0 0 14 4 28.6 2 0 0 1 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.273942094 1.273942094 1 0 0 1 NA NA 1 5 NA 1 1 1 1 0.000000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 104735228 T C TXNRD1 ENST00000429002 r.? - - intronic 44 0 0 39 2 5.1 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.19729207 0.19729207 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 2 NA 1 1 0.016387522 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 51492860 T C - - - - - - 36 0 0 30 2 6.7 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.259187621 0.259187621 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 0.009909649 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 2480958 C A - - - - - - 38 0 0 47 4 8.5 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.413820116 0.413820116 1 0.665429844 0.665429844 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000939 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 42258943 C A SETBP1 CCDS11923.2 r.? - - upstream 42 0 0 61 6 9.8 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.512038657 1.436646972 0.356412304 1.073644683 1.073644683 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000685 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 15369606 G C NBAS CCDS1685.1 r.? - - intronic 25 0 0 52 0 0 49 4 8.2 0 0 NA 1 0 0 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.529256125 0.529256125 1 0 0 1 NA NA 1 1 NA 1 1 1 1 0.000110643 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 25736670 A G - - - - - - 39 0 0 46 3 6.5 28 4 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.186450677 0.186450677 1 0.493971047 0.493971047 1 NA NA 1 NA NA 1 2 NA 1 1 0.001615827 1 0.0000116 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 62468549 T A LPHN3 ENST00000512091 r.? - - intronic 44 0 0 33 0 0 21 3 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.493971047 0.493971047 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000155401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 76636509 A C G3BP2 ENST00000511868 r.? - - intronic 27 0 0 34 1 2.9 23 3 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.083185687 0.083185687 1 0.449064588 0.449064588 1 NA NA 1 NA NA 1 1 NA 1 1 0.156694864 1 0.000205387 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 25953275 T A - - - - - - 28 0 0 43 1 2.3 50 4 8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.111974855 0.111974855 1 0.436347439 0.436347439 1 NA NA 1 NA NA 1 1 NA 1 1 0.193893409 1 0.000119787 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 30489499 T A - - - - - - 34 0 0 47 5 10.6 47 4 8.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.516058027 0.516058027 1 0.463619154 0.463619154 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000402 1 0.0000939 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 40975267 C A - - - - - - 34 0 0 33 4 12.1 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.564283092 0.564283092 1 0.83996882 0.83996882 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000228 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 122999188 G T PKIB CCDS5126.1 r.? - - intronic 26 0 0 32 0 0 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 156588227 G C - - - - - - 29 0 0 38 6 15.8 42 4 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.611218569 0.611218569 1 0.423162584 0.423162584 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 59827591 A T TOX CCDS34897.1 r.? - - intronic 12 0 0 20 6 30 12 3 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.402792996 1.402792996 1 1.363585746 1.363585746 1 NA NA 0 NA NA 1 5 NA 1 1 5.7E-10 1 0.0000266 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 134740187 T C - - - - - - 34 0 0 100 5 5 68 5 7.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.596100091 7 4 5 2 2 0.403899909 1 5 NA 2 NA 0.596100091 NA 0.423228602 0.709995869 0.596100091 0.699621381 0.699621381 1 NA NA 0 NA NA 1 5 NA 1 1 0.000158599 1 0.0000251 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 107323751 C T - - - - - - 32 0 0 36 4 11.1 20 4 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.540400387 0.540400387 1 1.12087431 1.12087431 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000324 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 52909294 A T - - - - - - 18 0 0 25 8 32 19 3 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.237911025 1.237911025 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 3.92E-13 1 0.000114071 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 23702385 A C TCEA3 ENST00000374601 r.? - - downstream 17 0 0 31 0 0 34 4 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.525612472 0.525612472 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 56919739 C A - - - - - - 29 0 0 47 1 2.1 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.105433222 0.105433222 1 0.697734661 0.697734661 1 NA NA 1 NA NA 1 1 NA 1 1 0.209895027 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 81759040 G C - - - - - - 32 0 0 38 6 15.8 44 4 9.1 0 0 NA 2 2 100 2 0 0 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.769218569 0.769218569 1 0.496345212 0.496345212 1 4.868471954 2.434235977 2 0 0 1 5 5 1 1 3.76E-08 0.000025 0.0000723 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 109618185 G T TAF13 CCDS30788.1 r.? - - intronic 32 0 0 65 0 0 68 5 7.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.403621381 0.403621381 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000251 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 161549617 T C FCGR2B ENST00000367962 r.? - - upstream 22 0 0 14 3 21.4 18 4 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.990670662 0.990670662 1 1.210864143 1.210864143 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000437 1 0.00000181 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 186879492 C T PLA2G4A CCDS1372.1 r.? - - intronic 46 0 0 35 6 17.1 42 5 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.723522444 0.723522444 1 0.530066815 0.530066815 1 NA NA 1 NA NA 1 5 NA 1 1 2.24E-08 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 219371161 G A LYPLAL1 CCDS1522.1 r.? - - intronic 34 0 0 47 3 6.4 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.270792026 0.7466964 0.36265345 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 0.001719595 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 89136725 C G - - - - - - 18 0 0 40 5 12.5 33 3 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.858558994 0.858558994 1 0.678345212 0.678345212 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000178 1 0.000609557 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 34838270 T A - - - - - - 38 0 0 43 1 2.3 43 4 9.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.088974855 0.088974855 1 0.414253898 0.414253898 1 NA NA 1 NA NA 1 1 NA 1 1 0.193893409 1 0.000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 83861962 G T DLG2 CCDS41696.1 r.? - - intronic 41 0 0 54 0 0 60 5 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0 0 1 0.452710468 0.452710468 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000136 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 111387286 T A BTG4 CCDS8346.1 r.? - - upstream 37 0 0 29 0 0 30 4 13.3 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0 NA 0 0.592427617 0.592427617 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.0000154 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 49756894 T A ZNF423 CCDS32445.1 r.? - - intronic 19 0 0 26 3 11.5 24 4 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.444874275 0.444874275 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 0.000298167 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 70114168 A G - - - - - - 22 0 0 20 2 10 19 4 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.286847195 0.286847195 1 0.72886637 0.72886637 1 NA NA 1 NA NA 1 5 NA 1 1 0.004473894 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 48771513 C A ANKRD40 CCDS11572.1 r.3222g>u c.? p.? 3'UTR variant 15 0 0 23 1 4.3 20 5 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.166344294 0.166344294 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 0.108890944 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 49020163 C G ENSG00000227115 ENST00000435144 r.? - - intronic 33 0 0 32 6 18.8 61 5 8.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.915272727 0.915272727 1 0.447256125 0.447256125 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 0.0000147 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 600005 G A - - - - - - 33 0 0 43 4 9.3 44 5 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.452767892 0.452767892 1 0.6217951 0.6217951 1 NA NA 1 NA NA 1 5 NA 1 1 0.000066 1 0.00000288 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 80926947 C T - - - - - - 38 0 0 42 0 0 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 9735295 C A CR381670.1 ENST00000512548 r.? - - upstream 28 0 0 42 3 7.1 37 4 10.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.241385089 0.454313747 0.531318039 0.426246938 0.865673016 0.492387923 NA NA 1 NA NA 1 5 NA 1 1 0.001240292 1 0.0000362 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 27026863 G C JAM2 CCDS42911.1 r.? - - intronic 24 0 0 35 0 0 40 4 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.345434298 0.345434298 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000495 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 88341478 C A - - - - - - 40 0 0 35 2 5.7 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.220502901 0.220502901 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 2 NA 1 1 0.013332991 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 144802302 C T - - - - - - 42 0 0 45 1 2.2 48 5 10.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 0.151106383 0.151106383 1 0.627320477 0.627320477 1 NA NA 1 NA NA 0 2 NA 1 1 0.201934322 1 0.00000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 192055520 T G FGF12 CCDS3301.1 r.? - - intronic 45 0 0 48 3 6.2 48 4 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.301845261 0.301845261 1 0.452710468 0.452710468 1 NA NA 1 NA NA 1 4 NA 1 1 0.001827434 1 0.000102016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 8654324 T C - - - - - - 42 0 0 28 1 3.6 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.10326499 0.10326499 1 0.53196882 0.53196882 1 NA NA 1 NA NA 1 1 NA 1 1 0.130947004 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 31194534 C A - - - - - - 25 0 0 51 5 9.8 50 10 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.477110251 0.477110251 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000606 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 139754643 C T - - - - - - 36 0 0 40 4 10 46 5 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.486847195 0.486847195 1 0.594523385 0.594523385 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000495 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 156669448 T G - - - - - - 20 1 5 39 6 15.4 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 1.153674833 1.153674833 1 NA NA 1 NA NA 1 5 NA 0.09538952 1 4.43E-08 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 117137485 G A CFTR CCDS5773.1 r.? - - intronic 39 0 0 36 0 0 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0 0 1 0.640297333 0.640297333 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 42776633 G C HOOK3 CCDS6139.1 r.? - - intronic 33 0 0 35 10 28.6 34 6 17.6 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.337329323 1.337329323 1 0.959964365 0.959964365 1 NA NA 0 NA NA 1 5 NA 1 1 1.6E-15 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 86083803 A G - - - - - - 38 0 0 52 0 0 62 5 8.1 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 3.72743975 4.218251474 2 2 1 2 0.27256025 0.781748526 2 3 2 2 0.72743975 0.218251474 0 NA 0 0.540480151 0.540480151 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 134441792 A C - - - - - - 18 0 0 73 1 1.4 76 7 9.2 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 6.596100091 7 4 5 2 2 0.403899909 1 5 NA 2 NA 0.596100091 NA 0.118504009 NA 0 0.869799555 0.869799555 1 NA NA 0 NA NA 1 NA NA 1 1 0.306438632 1 0.000000126 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 80843902 C T - - - - - - 31 0 0 46 0 0 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 119458964 C T - - - - - - 19 0 0 23 3 13 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.372901354 0.372901354 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 5 NA 1 1 0.000205387 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 2955935 G T - - - - - - 16 0 0 19 4 21.1 12 4 33.3 3 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000228 1 0.0000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 7914391 G A UTS2 CCDS91.1 r.? - - upstream 26 0 0 24 2 8.3 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.321083172 0.321083172 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 0.006413403 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 15525531 C T TMEM51 CCDS154.1 r.? - - intronic 39 0 0 26 6 23.1 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.662617021 0.662617021 1 0.832496659 0.832496659 1 NA NA 1 NA NA 1 5 NA 1 1 3.3E-09 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 17280823 G A CROCC CCDS30616.1 r.3361g>a c.3292G>A p.D1098N missense 30 0 0 33 4 12.1 22 10 45.5 97 0 0 127 19 15 2 0 0 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.347085106 0.347085106 1 1.571726058 1.571726058 1 0.430270793 0.430270793 1 0 0 1 5 3 1 1 0.0000228 2.13E-22 5.98E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 18178468 G T - - - - - - 31 0 0 32 1 3.1 22 8 36.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.088922631 0.088922631 1 1.257380846 1.257380846 1 NA NA 1 NA NA 1 2 NA 1 1 0.14819814 1 1.17E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 21021299 C G KIF17 CCDS213.1 r.? - - intronic 31 0 0 25 0 0 31 7 22.6 166 0 0 98 2 2 1 0 0 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.780681514 0.780681514 1 0.057369439 0.057369439 1 0 0 1 1 1 1 1 1 0.086801297 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 21675130 G T ECE1 CCDS44081.1 r.? - - upstream 16 0 0 20 3 15 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.580270793 0.580270793 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 5 NA 1 1 0.0001337 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 22064689 T A USP48 CCDS30623.1 r.? - - intronic 16 0 0 34 3 8.8 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.340425532 0.340425532 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 0.000666058 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 23171928 A C EPHB2 CCDS230.1 r.? - - intronic 40 0 0 28 2 7.1 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.274661509 0.274661509 1 0.944320713 0.944320713 1 NA NA 1 NA NA 1 5 NA 1 1 0.008668191 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 29788816 C A ENSG00000231360 ENST00000455342 r.? - - intronic 33 0 0 34 5 14.7 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.568665377 0.568665377 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 36668372 G A - - - - - - 29 0 0 42 1 2.4 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.092843327 0.092843327 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 1 NA 1 1 0.189842622 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 37135770 C T - - - - - - 29 0 0 46 1 2.2 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.085106383 0.085106383 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 1 NA 1 1 0.205924651 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 37859231 A G - - - - - - 39 0 0 31 3 9.7 30 6 20 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.375241779 0.375241779 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.000505952 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 39430549 C A - - - - - - 30 0 0 36 5 13.9 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.537717602 0.537717602 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000104 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 46323729 G C MAST2 CCDS41326.1 r.? - - intronic 27 0 0 27 3 11.1 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.429400387 0.429400387 1 0.868596882 0.868596882 1 NA NA 1 NA NA 1 5 NA 1 1 0.000334187 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 48425750 T C - - - - - - 37 0 0 36 2 5.6 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.281155259 0.281155259 1 1.595639101 1.595639101 1 NA NA 1 NA NA 1 5 NA 1 1 0.014070883 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 51625902 G A - - - - - - 25 0 0 36 4 11.1 50 12 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.557289889 0.557289889 1 1.372592775 1.372592775 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000324 1 2.49E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 52524631 G T BTF3L4 CCDS30713.1 r.? - - intronic 28 0 0 50 6 12 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.602475556 0.602475556 1 1.658549603 1.658549603 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000206 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 54672774 C G MRPL37 CCDS589.1 r.? - - intronic 32 0 0 39 5 12.8 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.642640593 0.642640593 1 1.561324282 1.561324282 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000156 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 55474172 G A BSND CCDS602.1 r.1088g>a c.834G>A p.K278K silent 40 0 0 45 2 4.4 49 14 28.6 186 0 0 138 26 18.8 296 260 87.8 TRUE TRUE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.220907704 1.451834106 0.152157676 1.635673057 0.817836528 2 0.94387837 0.94387837 1 5.021401902 2.217156544 2.264793578 5 4 1 1 0.021467209 7.54E-33 3.5E-21 0 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 1 57500647 C T DAB1 CCDS607.1 r.? - - intronic 37 1 2.7 45 8 17.8 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.893672074 0.893672074 1 1.504132916 1.504132916 1 NA NA 1 NA NA 1 5 NA 0.169281299 1 7.14E-11 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 59726708 C A - - - - - - 28 0 0 35 3 8.6 45 10 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.152157676 3.264793578 2 2 1 1 0.847842324 0.735206422 2 3 2 1 0.152157676 0.264793578 0.431774148 0.431774148 1 1.269648317 1.269648317 1 NA NA 1 NA NA 1 5 NA 1 1 0.000725791 1 2.66E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 63219047 C T - - - - - - 24 0 0 60 4 6.7 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.176131953 4 3 3 1 1 0.823868047 1 3 NA 2 NA 0.176131953 NA 0.404988462 0.404988462 1 0.851973274 0.851973274 1 NA NA 1 NA NA 1 5 NA 1 1 0.000243755 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 65263688 G A RAVER2 CCDS41345.1 r.? - - intronic 21 0 0 26 4 15.4 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.71543774 0.71543774 1 1.592668151 1.592668151 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000856 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 73729894 G A - - - - - - 35 0 0 45 5 11.1 44 11 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.515672657 0.515672657 1 1.363585746 1.363585746 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000323 1 3.22E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 73879667 G A - - - - - - 34 0 0 39 3 7.7 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.35771887 0.460249795 0.777227657 0.818151448 0.818151448 1 NA NA 0 NA NA 1 5 NA 1 1 0.000998458 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 76427186 C T - - - - - - 31 0 0 48 5 10.4 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.48315276 0.621636087 0.777227657 1.319951002 1.319951002 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000447 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 77118229 C G - - - - - - 33 0 0 41 3 7.3 48 9 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.777227657 3 1 2 1 1 0.222772343 1 2 NA 1 NA 0.777227657 NA 0.339136072 0.436340715 0.777227657 1.025416481 1.025416481 1 NA NA 0 NA NA 1 5 NA 1 1 0.001155993 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 78866136 T A PTGFR CCDS686.1 r.? - - intronic 43 0 0 58 2 3.4 54 6 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 5.294782934 2 4 1 1 1 0.705217066 NA 5 NA 1 NA 0.294782934 0.165528046 0.165528046 1 0.860152977 0.860152977 1 NA NA 0 NA NA 1 2 NA 1 1 0.034352256 1 0.000000329 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 79236988 A T - - - - - - 35 0 0 43 2 4.7 56 14 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 5.294782934 2 4 1 1 1 0.705217066 NA 5 NA 1 NA 0.294782934 0.228818182 0.228818182 1 1.93728148 0.96864074 2 NA NA 0 NA NA 1 5 NA 1 1 0.019709573 1 2.91E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 79371335 G A ELTD1 CCDS41352.1 r.? - - intronic 35 0 0 40 4 10 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.486847195 0.486847195 1 0.872694878 0.872694878 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000495 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 79931487 G A - - - - - - 36 1 2.8 58 12 20.7 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.007773694 1.007773694 1 1.489035635 1.489035635 1 NA NA 1 NA NA 1 5 NA 0.165106833 1 1.76E-16 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 81334175 A T - - - - - - 28 0 0 35 5 14.3 49 12 24.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 1.336314031 1.336314031 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 1.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 81607110 C A - - - - - - 41 0 0 43 3 7 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.340793037 0.340793037 1 1.429037862 1.429037862 1 NA NA 1 NA NA 1 5 NA 1 1 0.001328364 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 82526906 C G - - - - - - 34 0 0 49 3 6.1 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.296976789 0.296976789 1 0.992690423 0.992690423 1 NA NA 1 NA NA 1 5 NA 1 1 0.001939399 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 92544466 C T BTBD8 CCDS737.1 r.? - - upstream 24 0 0 48 6 12.5 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.608558994 0.608558994 1 0.981781737 0.981781737 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000016 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 93110933 A G EVI5 CCDS30774.1 r.? - - intronic 30 0 0 49 5 10.2 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.496584139 0.496584139 1 1.29813363 1.29813363 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000496 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 94282786 G A BCAR3 CCDS745.1 r.? - - intronic 32 0 0 42 0 0 53 8 15.1 235 0 0 231 2 0.9 30 8 26.7 TRUE TRUE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.823605791 0.823605791 1 0.043816248 0.043816248 1 1.456309577 1.456309577 1 1 1 1 1 1 0.321191876 2.83E-10 2.07E-12 YES 0_0 1_1 somatic custom.pulldown.HiSeq PD9776b 1 96743347 C A - - - - - - 26 0 0 32 2 6.2 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.301845261 0.301845261 1 1.210864143 1.210864143 1 NA NA 1 NA NA 1 5 NA 1 1 0.011224977 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 101495686 T A DPH5 CCDS41358.1 r.? - - upstream 34 0 0 42 1 2.4 43 5 11.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.116843327 0.116843327 1 0.632703786 0.632703786 1 NA NA 1 NA NA 1 2 NA 1 1 0.189842622 1 0.00000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 107244143 G A - - - - - - 35 0 0 56 5 8.9 50 7 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.433294004 0.433294004 1 0.763608018 0.763608018 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000965 1 6.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 143393172 C T - - - - - - 23 0 0 21 3 14.3 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.447585854 0.447585854 1 0.791102756 0.791102756 1 NA NA 1 NA NA 1 5 NA 1 1 0.000155401 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 143452323 G T - - - - - - 121 0 0 146 8 5.5 134 10 7.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.261499055 1.109182942 1 1 0 0 0.738500945 0.890817058 1 1 1 1 0.261499055 0.109182942 0.172148405 0.658313681 0.261499055 0.267264444 0.267264444 1 NA NA 1 NA NA 1 4 NA 1 1 0.000000892 1 2.03E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 148940131 C A - - - - - - 99 0 0 129 6 4.7 129 9 7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.217577201 0.217577201 1 0.381804009 0.381804009 1 NA NA 0 NA NA 1 4 NA 1 1 0.0000526 1 2.33E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 149449566 C A FAM72C ENST00000369175 r.? - - downstream 19 0 0 42 10 23.8 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 1.101773913 1.101773913 1 1.025416481 1.025416481 1 NA NA 0 NA NA 1 5 NA 1 1 1.24E-14 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 153183761 G C - - - - - - 29 0 0 35 0 0 44 6 13.6 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0 NA 0 0.741790646 0.741790646 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 154435724 A T IL6R CCDS1067.1 r.? - - intronic 26 0 0 48 2 4.2 35 9 25.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.194430691 0.194430691 1 1.401766147 1.401766147 1 NA NA 0 NA NA 1 2 NA 1 1 0.024220359 1 1.23E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 157190899 C T - - - - - - 33 0 0 53 2 3.8 49 6 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.175913482 0.175913482 1 0.665429844 0.665429844 1 NA NA 0 NA NA 1 2 NA 1 1 0.029108399 1 0.000000182 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 158380626 T C - - - - - - 34 0 0 38 3 7.9 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.36571487 0.480678696 0.760830204 1.199955457 1.199955457 1 NA NA 0 NA NA 1 5 NA 1 1 0.000925091 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 159317544 C T OR10J1 ENST00000328408 r.? - - upstream 34 0 0 41 2 4.9 49 6 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.226835806 0.298142483 0.760830204 0.665429844 0.665429844 1 NA NA 0 NA NA 1 5 NA 1 1 0.018015855 1 0.000000182 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 163221105 G A - - - - - - 42 0 0 54 0 0 48 8 16.7 72 0 0 24 0 0 178 86 48.3 FALSE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0 NA 0 0.910875278 0.910875278 1 0 NA 0 2.634447661 1.317223831 2 NA NA 1 1 1 1 1.23E-10 1.7E-146 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 165500450 T A - - - - - - 37 0 0 43 5 11.6 42 5 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.53699905 0.53699905 1 0.649066815 0.649066815 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000257 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 166698825 C T - - - - - - 33 0 0 40 3 7.5 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.347197662 0.456340534 0.760830204 0.954510022 0.954510022 1 NA NA 0 NA NA 1 5 NA 1 1 0.001075403 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 169245075 C G NME7 CCDS1277.1 r.? - - intronic 24 0 0 38 2 5.3 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.245353014 0.322480644 0.760830204 0.725427617 0.725427617 1 NA NA 0 NA NA 1 5 NA 1 1 0.015598339 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 171660461 C G - - - - - - 45 0 0 50 4 8 55 8 14.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.370344173 0.486763237 0.760830204 0.790879733 0.790879733 1 NA NA 0 NA NA 1 5 NA 1 1 0.000119787 1 3.86E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 172639385 G A FASLG CCDS1304.1 r.? - - downstream 40 0 0 46 1 2.2 48 7 14.6 186 0 0 120 2 1.7 145 3 2.1 FALSE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.101844647 NA 0 0.796334076 0.796334076 1 0.078698137 NA 0 0.114541203 0.114541203 1 NA NA 1 1 0.205924651 0.121569723 4.81E-09 0.036846426 YES 0_0 1_1 somatic custom.pulldown.HiSeq PD9776b 1 175103675 C T TNN CCDS30943.1 r.? - - intronic 23 0 0 44 2 4.5 36 8 22.2 0 0 NA 1 0 0 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.208318597 0.273804321 0.760830204 1.210864143 1.210864143 1 0 NA 0 NA NA 1 5 NA 1 1 0.020580492 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 176519935 A C PAPPA2 CCDS41438.1 r.? - - intronic 42 0 0 48 0 0 47 7 14.9 240 1 0.4 177 1 0.6 103 5 4.9 FALSE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0 NA 0 0.812697105 0.812697105 1 0.027775813 NA 0 0.267262806 0.267262806 1 NA NA 1 0.699711031 1 0.588200996 4.12E-09 0.000182144 YES 0_0 1_1 somatic custom.pulldown.HiSeq PD9776b 1 177821957 T G - - - - - - 38 0 0 54 4 7.4 55 13 23.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.34256836 0.450255994 0.760830204 1.287224944 1.287224944 1 NA NA 0 NA NA 1 5 NA 1 1 0.000161898 1 1.46E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 178162489 C G RASAL2 CCDS1321.1 r.? - - intronic 26 0 0 51 2 3.9 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0.180542784 0.180542784 1 0.709064588 0.709064588 1 NA NA 0 NA NA 1 2 NA 1 1 0.027109304 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 181543268 A G CACNA1E ENST00000367573 r.? - - intronic 26 0 0 59 0 0 37 7 18.9 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0 NA 0 1.030870824 1.030870824 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 184165752 G C - - - - - - 28 0 0 43 0 0 53 5 9.4 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 2.760830204 3 1 2 1 1 0.239169796 1 2 NA 1 NA 0.760830204 NA 0 NA 0 0.512708241 0.512708241 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.00000734 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 188403751 A G - - - - - - 35 0 0 44 3 6.8 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.287716527 0.793364925 0.36265345 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 0.00142027 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 193564937 C A - - - - - - 32 1 3.1 59 14 23.7 40 11 27.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 1.002776721 1.002776721 1 1.224944321 1.224944321 1 NA NA 1 NA NA 1 5 NA 0.14819814 1 6.58E-20 1 9.88E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 194056411 T G - - - - - - 35 0 0 46 1 2.2 34 4 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.093084759 0.093084759 1 0.525612472 0.525612472 1 NA NA 1 NA NA 1 1 NA 1 1 0.205924651 1 0.0000257 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 199727317 C A - - - - - - 31 0 0 43 8 18.6 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.786989325 0.786989325 1 0.677060134 0.677060134 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 199970588 T G - - - - - - 36 0 0 37 7 18.9 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.799682701 0.799682701 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 7.05E-10 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 200274820 C T - - - - - - 31 0 0 37 5 13.5 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.57120193 0.57120193 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000119 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 201141417 A T TMEM9 ENST00000367333 r.? - - upstream 26 0 0 45 0 0 45 6 13.3 239 0 0 167 0 0 4 0 0 TRUE TRUE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0 0 1 0.592427617 0.592427617 1 0 0 1 0 0 1 1 NA 1 1 1 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 203073037 T C ADORA1 CCDS1434.1 r.? - - intronic 29 0 0 45 1 2.2 34 5 14.7 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.093084759 NA 0 0.654788419 0.654788419 1 NA NA 1 NA NA 1 NA NA 1 1 0.201934322 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 206751183 A G RASSF5 CCDS1464.1 r.? - - intronic 34 0 0 43 0 0 41 8 19.5 208 0 0 158 10 6.3 14 10 71.4 TRUE TRUE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0 0 1 0.868596882 0.868596882 1 0.2665609 0.735029269 0.36265345 3.180400891 3.180400891 1 1 4 1 1 1 9.96E-09 3.22E-11 9.6E-21 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 228254945 C G - - - - - - 28 0 0 40 2 5 40 12 30 1 0 0 1 0 0 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.21155627 0.583356563 0.36265345 1.336302895 1.336302895 1 0 0 1 NA NA 1 5 NA 1 1 0.017193422 1 1.2E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 233210686 T G PCNXL2 CCDS44335.1 r.? - - intronic 30 0 0 49 4 8.2 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.36265345 2 1 1 1 1 0.63734655 1 2 NA 1 NA 0.36265345 NA 0.346952283 0.956704763 0.36265345 1.242761693 1.242761693 1 NA NA 1 NA NA 1 5 NA 1 1 0.000110643 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 236309416 C T GPR137B CCDS1609.1 r.? - - intronic 39 0 0 44 5 11.4 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.441005803 0.441005803 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000288 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 237394389 T A RYR2 ENST00000366574 r.? - - intronic 31 0 0 33 3 9.1 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.352030948 0.352030948 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 0.000609557 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 239099822 G C - - - - - - 33 0 0 45 6 13.3 40 13 32.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.51450677 0.51450677 1 1.44766147 1.44766147 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000108 1 1.3E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 1 239887443 T C CHRM3 CCDS1616.1 r.? - - intronic 30 0 0 36 1 2.8 56 8 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.108317215 0.108317215 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 1 NA 1 1 0.165106833 1 4.48E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 1103795 T A WDR37 CCDS7057.1 r.? - - intronic 24 0 0 65 0 0 57 4 7 127 0 0 137 0 0 24 0 0 TRUE TRUE 4 4.471871152 4 4 0 0 1 0.528128848 NA 5 NA 0 NA 0.471871152 0 0 1 0.48483499 0.48483499 1 0 0 1 0 0 1 1 NA 1 1 1 1 0.000199821 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 1710416 T A ADARB2 CCDS7058.1 r.? - - intronic 38 0 0 64 2 3.1 63 5 7.9 0 0 NA 2 0 0 0 0 NA TRUE FALSE 4 4.471871152 4 4 0 0 1 0.528128848 NA 5 NA 0 NA 0.471871152 0.181922631 0.181922631 1 0.547170917 0.547170917 1 0 0 1 NA NA 1 2 NA 1 1 0.041085601 1 0.0000173 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 1885793 T A - - - - - - 53 0 0 45 2 4.4 56 9 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.471871152 4 4 0 0 1 0.528128848 NA 5 NA 0 NA 0.471871152 0.258212766 0.258212766 1 1.115120476 1.115120476 1 NA NA 1 NA NA 1 5 NA 1 1 0.021467209 1 1.2E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 2094070 T A - - - - - - 43 0 0 75 9 12 65 20 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.471871152 4 4 0 0 1 0.528128848 NA 5 NA 0 NA 0.471871152 0.704216634 0.704216634 1 2.133273954 1.066636977 2 NA NA 1 NA NA 1 5 NA 1 1 1.82E-10 1 2.18E-30 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 4388335 G T - - - - - - 37 0 0 105 4 3.8 97 8 8.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.375001934 0.375001934 1 0.879290172 0.879290172 1 NA NA 1 NA NA 1 5 NA 1 1 0.002000038 1 0.000000038 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 5058655 G A AKR1C2 CCDS7062.1 r.? - - intronic 32 0 0 84 3 3.6 93 8 8.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.35526499 0.35526499 1 0.922182376 0.922182376 1 NA NA 1 NA NA 1 5 NA 1 1 0.008812993 1 2.73E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 5185341 A T - - - - - - 28 0 0 84 4 4.8 71 10 14.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.473686654 0.473686654 1 1.511950174 1.511950174 1 NA NA 1 NA NA 1 5 NA 1 1 0.000877031 1 3.42E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 5927389 C G FBXO18 CCDS7072.1 r.? - - upstream 35 0 0 111 2 1.8 95 10 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 8 8.268707894 6 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.177632495 0.177632495 1 1.125920342 1.125920342 1 NA NA 1 NA NA 1 2 NA 1 1 0.106960682 1 6.7E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 8063383 G A TAF3 CCDS41487.1 r.? - - downstream 23 0 0 87 9 10.3 80 8 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.913452611 0.913452611 1 1.072305088 1.072305088 1 NA NA 0 NA NA 1 5 NA 1 1 7.05E-10 1 8.22E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 8569100 C A - - - - - - 36 0 0 95 4 4.2 88 10 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.372475822 0.372475822 1 1.2224278 1.2224278 1 NA NA 0 NA NA 1 5 NA 1 1 0.001385533 1 3.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 9898281 C T - - - - - - 34 0 0 82 5 6.1 83 12 14.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 7 8.268707894 5 6 2 2 1 0.731292106 NA 6 NA 3 NA 0.268707894 0.540976789 0.540976789 1 1.554842377 1.554842377 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000619 1 1.7E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 12604124 G C CAMK1D CCDS7091.1 r.? - - intronic 38 0 0 58 0 0 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0 0 1 0.737518976 0.737518976 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 13916061 C T FRMD4A CCDS7101.1 r.? - - intronic 20 0 0 40 3 7.5 52 13 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0.377931592 0.377931592 1 1.44046675 1.44046675 1 NA NA 1 NA NA 1 5 NA 1 1 0.001075403 1 6.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 19315501 C T - - - - - - 34 0 0 42 3 7.1 43 9 20.9 0 0 NA 0 0 NA 2 0 0 TRUE FALSE 3.170615941 3.307524017 2 2 1 1 0.829384059 0.692475983 3 3 1 1 0.170615941 0.307524017 0.35777524 0.35777524 1 1.204230203 1.204230203 1 NA NA 1 0 0 1 5 NA 1 1 0.001240292 1 9.45E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 23899632 A C - - - - - - 39 0 0 39 3 7.7 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.37487234 0.37487234 1 0.768407566 0.768407566 1 NA NA 1 NA NA 0 5 NA 1 1 0.000998458 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 28363085 G A MPP7 CCDS7158.1 r.? - - intronic 35 0 0 44 0 0 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0 0 1 0.799559224 0.799559224 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 29949224 C G SVIL CCDS7164.1 r.? - - intronic 28 0 0 40 4 10 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.486847195 0.486847195 1 0.991661116 0.991661116 1 NA NA 1 NA NA 0 5 NA 1 1 0.0000495 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 30915896 G C LYZL2 CCDS7167.2 r.? - - intronic 24 0 0 61 4 6.6 52 9 17.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.321319149 0.321319149 1 0.898206142 0.898206142 1 NA NA 1 NA NA 0 2 NA 1 1 0.000259828 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 34140439 G T - - - - - - 22 0 0 52 1 1.9 45 5 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.092500967 0.092500967 1 0.576305675 0.576305675 1 NA NA 1 NA NA 0 1 NA 1 1 0.229451111 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 37931647 G C - - - - - - 25 0 0 47 1 2.1 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 2.737600031 2 1 1 1 1 0.262399969 NA 2 NA 1 NA 0.737600031 0.102237911 0.102237911 1 0.685336478 0.685336478 1 NA NA 1 NA NA 0 1 NA 1 1 0.209895027 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 44958614 T G - - - - - - 30 0 0 32 3 9.4 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.363636364 0.363636364 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 5 NA 1 1 0.000556213 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 44971663 T A - - - - - - 37 1 2.7 38 3 7.9 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.305609284 0.305609284 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 0.169281299 1 0.000925091 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 52472471 G T - - - - - - 29 0 0 25 7 28 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.803172147 0.803172147 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 5 NA 1 1 3.47E-11 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 55449023 G T - - - - - - 28 0 0 52 4 7.7 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.29787234 0.29787234 1 0.601336303 0.601336303 1 NA NA 1 NA NA 1 2 NA 1 1 0.000139698 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 59320699 A G - - - - - - 28 0 0 24 5 20.8 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 60864178 G T - - - - - - 37 0 0 35 4 11.4 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.441005803 0.441005803 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000289 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 65482788 T C - - - - - - 30 0 0 37 0 0 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 65607744 G A - - - - - - 31 0 0 58 1 1.7 37 7 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.065764023 0.065764023 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 1 NA 1 1 0.252280541 1 7.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 68884269 T A CTNNA3 CCDS7269.1 r.? - - intronic 33 0 0 36 0 0 34 6 17.6 120 0 0 52 0 0 143 44 30.8 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.783964365 0.783964365 1 0 0 1 1.371937639 0.68596882 2 1 1 1 1 1 1 1.86E-08 5.44E-65 YES 0_0 1_1 somatic custom.pulldown.HiSeq PD9776b 10 83137147 G A - - - - - - 39 0 0 88 1 1.1 66 12 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.075553191 0.075553191 1 1.356690423 1.356690423 1 NA NA 1 NA NA 1 1 NA 1 1 0.356673997 1 9.36E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 83164721 T C - - - - - - 31 0 0 72 2 2.8 75 9 12 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.192317215 0.192317215 1 0.894521158 0.894521158 1 NA NA 1 NA NA 1 2 NA 1 1 0.050755634 1 1.82E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 83272078 C A - - - - - - 35 0 0 69 0 0 68 10 14.7 25 0 0 27 2 7.4 572 17 3 TRUE TRUE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.095788419 1.095788419 1 0.508266925 0.508266925 1 0.22363029 0.22363029 1 1 5 1 1 1 0.00807567 2.18E-12 9.27E-09 YES 0_1 1_1 somatic custom.pulldown.HiSeq PD9776b 10 85628811 G C - - - - - - 24 0 0 80 3 3.8 61 7 11.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.261001934 0.261001934 1 0.857249443 0.857249443 1 NA NA 1 NA NA 1 2 NA 1 1 0.007711832 1 2.69E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 86492607 A G - - - - - - 35 0 0 53 4 7.5 47 6 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.515135397 0.515135397 1 0.954155902 0.954155902 1 NA NA 1 NA NA 1 5 NA 1 1 0.000150502 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 89369295 C A - - - - - - 35 0 0 71 2 2.8 103 10 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 5 5 0 0 1 1 NA NA NA NA NA NA 0.192317215 0.192317215 1 0.723071269 0.723071269 1 NA NA 1 NA NA 1 2 NA 1 1 0.04950591 1 1.51E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 107669448 C A - - - - - - 32 0 0 28 3 10.7 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.306926499 0.306926499 1 0.998305122 0.998305122 1 NA NA 1 NA NA 1 5 NA 1 1 0.000372895 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 119885772 C T - - - - - - 33 0 0 29 0 0 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 122186881 G C - - - - - - 40 0 0 94 1 1.1 64 9 14.1 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 6 7 6 7 0 0 1 1 NA NA NA NA NA NA 0.086553191 NA 0 1.333062361 1.333062361 1 NA NA 0 NA NA 1 NA NA 1 1 0.375734132 1 4.2E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 122991967 G A - - - - - - 36 0 0 80 7 8.8 66 7 10.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6 7 6 7 0 0 1 1 NA NA NA NA NA NA 0.692425532 0.692425532 1 1.002160356 1.002160356 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000018 1 0.000000047 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 123009146 T A - - - - - - 38 0 0 78 3 3.8 78 6 7.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6 7 6 7 0 0 1 1 NA NA NA NA NA NA 0.299001934 0.299001934 1 0.72798441 0.72798441 1 NA NA 0 NA NA 1 5 NA 1 1 0.007193566 1 0.00000295 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 124436901 T A ENSG00000214308 ENST00000398072 r.? - - intronic 36 0 0 30 2 6.7 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.259187621 0.259187621 1 0.766146993 0.766146993 1 NA NA 1 NA NA 1 5 NA 1 1 0.009909649 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 127286250 C T - - - - - - 30 0 0 38 1 2.6 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.100580271 0.100580271 1 0.779510022 0.779510022 1 NA NA 1 NA NA 1 1 NA 1 1 0.173434892 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 128165810 G A C10orf90 CCDS31310.1 r.? - - intronic 33 0 0 40 0 0 34 6 17.6 108 0 0 82 2 2.4 9 0 0 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.783964365 0.783964365 1 0.092843327 0.092843327 1 0 0 1 1 2 1 1 1 0.063849088 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 133272453 A G - - - - - - 22 0 0 16 2 12.5 10 4 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 1.781737194 1.781737194 1 NA NA 1 NA NA 1 5 NA 1 1 0.002863359 1 0.000000128 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 10 135047649 G A VENTX CCDS7675.1 r.? - - upstream 29 0 0 29 3 10.3 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.398452611 0.398452611 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 0.000414371 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 3751449 A C NUP98 CCDS7746.1 r.? - - intronic 31 0 0 37 1 2.7 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.131448743 0.131448743 1 1.178138085 1.178138085 1 NA NA 1 NA NA 1 2 NA 1 1 0.169281299 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 4801429 T A MMP26 CCDS7752.1 r.? - - intronic 47 0 0 49 5 10.2 49 7 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.496584139 0.496584139 1 0.779971047 0.779971047 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000496 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 11724318 T G - - - - - - 31 0 0 53 2 3.8 41 4 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.185001934 0.185001934 1 0.534525612 0.534525612 1 NA NA 1 NA NA 1 2 NA 1 1 0.029108399 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 17674622 C A - - - - - - 46 0 0 39 3 7.7 58 11 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.37487234 0.37487234 1 1.036325167 1.036325167 1 NA NA 1 NA NA 1 5 NA 1 1 0.000998458 1 8.96E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 22466004 A T - - - - - - 42 1 2.4 52 10 19.2 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.934746615 0.934746615 1 1.390857461 1.390857461 1 NA NA 1 NA NA 1 5 NA 0.189842622 1 1.28E-13 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 23941814 C A - - - - - - 25 0 0 43 1 2.3 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.111974855 0.111974855 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 2 NA 1 1 0.193893409 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 29114053 G A - - - - - - 32 0 0 42 4 9.5 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.462504836 0.462504836 1 1.014507795 1.014507795 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000601 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 30284663 T C - - - - - - 32 0 0 43 4 9.3 21 4 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.452767892 0.452767892 1 1.036325167 1.036325167 1 NA NA 1 NA NA 1 5 NA 1 1 0.000066 1 0.00000349 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 30429321 G C MPPED2 CCDS44560.1 r.? - - intronic 24 0 0 40 0 0 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.796334076 0.796334076 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 31451140 G A DNAJC24 CCDS7873.2 r.? - - intronic 38 0 0 35 4 11.4 48 6 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.555005803 0.555005803 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000289 1 0.00000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 38961047 A C - - - - - - 36 0 0 25 3 12 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.464216634 0.464216634 1 1.750556793 1.750556793 1 NA NA 1 NA NA 1 5 NA 1 1 0.00026475 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 41633892 C A - - - - - - 45 0 0 41 4 9.8 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.379110251 0.379110251 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000546 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 48909612 A T - - - - - - 17 0 0 6 0 0 14 4 28.6 3 0 0 1 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.273942094 1.273942094 1 0 0 1 NA NA 1 5 NA 1 1 1 1 0.000000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 55453860 G T OR4P1P ENST00000345013 r.? - - downstream 24 0 0 33 9 27.3 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 6.76E-14 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 58321677 T G LPXN CCDS7969.1 r.? - - intronic 27 0 0 27 3 11.1 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.429400387 0.429400387 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 0.000334187 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 62359272 C G MTA2 CCDS8022.1 r.? - - downstream 33 0 0 49 0 0 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 64235403 A T - - - - - - 23 0 0 42 3 7.1 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.274661509 0.274661509 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 0.001240292 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 68748441 C G MRGPRD CCDS31625.1 r.15g>c c.15G>C p.L5F missense 33 0 0 30 3 10 32 12 37.5 195 0 0 167 51 30.5 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.386847195 0.386847195 1 1.670378619 1.670378619 1 1.179883946 1.179883946 1 NA NA 1 5 NA 1 1 0.000458697 7.17E-75 5.03E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 69620963 G A FGF3 CCDS8195.1 r.? - - downstream 23 0 0 25 4 16 26 10 38.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.618955513 0.618955513 1 1.714922049 1.714922049 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000727 1 4.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 75429346 G T MOGAT2 CCDS8240.1 r.? - - intronic 27 1 3.7 45 9 20 29 11 37.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 1.026473198 1.026473198 1 2.067195991 1.033597996 2 NA NA 1 NA NA 1 5 NA 0.126579904 1 1.47E-12 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 75886923 C G - - - - - - 34 0 0 43 4 9.3 34 7 20.6 0 0 NA 2 2 100 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 0.477310037 0.477310037 1 1.123594655 1.123594655 1 5.13236599 2.566182995 2 NA NA 1 5 NA 1 1 0.000066 0.000025 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 75967480 A G - - - - - - 25 0 0 31 1 3.2 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 0.164235712 0.164235712 1 0.959964365 0.959964365 1 NA NA 1 NA NA 1 5 NA 1 1 0.143917729 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 76878322 G A MYO7A ENST00000409709 r.? - - intronic 25 0 0 40 3 7.5 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.263894037 3 2 2 1 1 0.736105963 1 2 NA 2 NA 0.263894037 NA 0.384927449 1.458643986 0.263894037 0.992690423 0.992690423 1 NA NA 1 NA NA 1 5 NA 1 1 0.001075403 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 83690605 G C DLG2 CCDS41696.1 r.? - - intronic 30 0 0 64 3 4.7 51 6 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.235210129 1.729500606 0.13599887 0.643612472 0.643612472 1 NA NA 1 NA NA 1 5 NA 1 1 0.004148608 1 0.000000232 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 84912727 G A DLG2 CCDS44690.1 r.? - - intronic 47 0 0 72 4 5.6 63 13 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.13599887 3 2 2 1 1 0.86400113 1 2 NA 2 NA 0.13599887 NA 0.280250366 0.280250366 1 1.123594655 1.123594655 1 NA NA 1 NA NA 1 2 NA 1 1 0.000490365 1 1.01E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 87195234 G T - - - - - - 31 0 0 55 6 10.9 58 9 15.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 0.499242975 0.701441254 0.711738826 0.845423163 0.845423163 1 NA NA 0 NA NA 1 5 NA 1 1 0.000000367 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 87602283 G C - - - - - - 42 0 0 48 3 6.2 53 15 28.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 0.283973068 0.398984934 0.711738826 1.543579065 0.771789532 2 NA NA 0 NA NA 1 5 NA 1 1 0.001827434 1 1.6E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 87824572 C G - - - - - - 27 0 0 38 3 7.9 44 15 34.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 0.361836652 0.508384028 0.711738826 1.859930958 0.929965479 2 NA NA 0 NA NA 1 5 NA 1 1 0.000925091 1 6.12E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 89879407 T G NAALAD2 CCDS8288.1 r.? - - intronic 28 0 0 39 5 12.8 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 0.58626698 0.58626698 1 0.93269265 0.93269265 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000156 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 90796714 C T - - - - - - 30 0 0 35 3 8.6 17 4 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 0.393898127 0.553430714 0.711738826 1.281770601 1.281770601 1 NA NA 0 NA NA 1 5 NA 1 1 0.000725791 1 0.00000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 91988008 G T - - - - - - 21 0 0 42 2 4.8 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 0.219850117 0.308891562 0.711738826 0.910875278 0.910875278 1 NA NA 0 NA NA 1 5 NA 1 1 0.018854633 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 92453806 C T FAT3 CCDS44706.1 r.? - - intronic 25 0 0 37 4 10.8 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.711738826 3 2 3 0 0 0.288261174 1 3 NA 0 NA 0.711738826 NA 0.494662764 0.494662764 1 1.009053452 1.009053452 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000362 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 99403933 G T - - - - - - 26 0 0 29 3 10.3 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.374669043 0.487157913 0.769091568 1.483296214 1.483296214 1 NA NA 0 NA NA 1 5 NA 1 1 0.000414371 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 104724063 C G - - - - - - 31 0 0 46 2 4.3 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.156415231 0.156415231 1 1.229398664 1.229398664 1 NA NA 0 NA NA 1 2 NA 1 1 0.022369545 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 108096601 T A ATM CCDS31669.1 r.? - - intronic 29 0 0 37 1 2.7 45 6 13.3 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.098214215 NA 0 0.592427617 0.592427617 1 NA NA 0 NA NA 1 NA NA 1 1 0.169281299 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 111850395 G C DIXDC1 ENST00000389821 r.? - - intronic 39 0 0 26 4 15.4 43 12 27.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.560184782 0.560184782 1 1.242761693 1.242761693 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000856 1 3.24E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 117513073 A T DSCAML1 CCDS8384.1 r.? - - intronic 33 0 0 44 4 9.1 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.33101828 0.430401651 0.769091568 1.082405345 1.082405345 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000723 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 118848210 G A FOXR1 CCDS31688.1 r.? - - intronic 25 0 0 44 1 2.3 29 6 20.7 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.083663961 NA 0 0.922048998 0.922048998 1 NA NA 0 NA NA 1 NA NA 1 1 0.197923942 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 119425829 G C - - - - - - 35 0 0 40 1 2.5 34 5 14.7 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.090939088 NA 0 0.654788419 0.654788419 1 NA NA 0 NA NA 1 NA NA 1 1 0.181679879 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 127732052 C T - - - - - - 35 0 0 43 3 7 37 5 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.254629446 0.254629446 1 0.601336303 0.601336303 1 NA NA 0 NA NA 1 2 NA 1 1 0.001328364 1 0.00000119 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 130615795 T A - - - - - - 26 0 0 38 3 7.9 44 10 22.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.287367518 0.373645389 0.769091568 1.011135857 1.011135857 1 NA NA 0 NA NA 1 5 NA 1 1 0.000925091 1 2.08E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 134078436 G A NCAPD3 CCDS31723.1 r.? - - intronic 31 0 0 30 6 20 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0.727512704 0.727512704 1 1.002227171 1.002227171 1 NA NA 0 NA NA 1 5 NA 1 1 8.37E-09 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 11 134379964 A C - - - - - - 30 0 0 32 0 0 46 5 10.9 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 1.769091568 2 1 2 0 0 0.230908432 1 2 NA 0 NA 0.769091568 NA 0 NA 0 0.485523385 0.485523385 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 2826691 G C - - - - - - 33 0 0 51 0 0 46 5 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 0 0 1 0.703523385 0.703523385 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 2830319 C T - - - - - - 23 0 0 38 3 7.9 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 0.473770822 0.473770822 1 1.026240535 1.026240535 1 NA NA 1 NA NA 1 5 NA 1 1 0.000925091 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 4372838 A T - - - - - - 32 0 0 65 1 1.5 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4.128627055 4 3 3 1 1 0.871372945 1 3 NA 2 NA 0.128627055 NA 0.089956485 0.089956485 1 0.806792873 0.806792873 1 NA NA 1 NA NA 1 1 NA 1 1 0.278061424 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 5782042 G T ANO2 CCDS44807.1 r.? - - intronic 37 0 0 42 3 7.1 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.322175329 0.481427259 0.669208739 1.270861915 1.270861915 1 NA NA 0 NA NA 1 5 NA 1 1 0.001240292 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 5782043 G T ANO2 CCDS44807.1 r.? - - intronic 36 0 0 42 3 7.1 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.322175329 0.481427259 0.669208739 1.199955457 1.199955457 1 NA NA 0 NA NA 1 5 NA 1 1 0.001240292 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 5877473 G T ANO2 CCDS44807.1 r.? - - intronic 29 0 0 45 4 8.9 47 11 23.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.403853582 0.60347924 0.669208739 1.276316258 1.276316258 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000791 1 7.21E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 6341676 G T CD9 CCDS8540.1 r.? - - intronic 24 0 0 33 1 3 52 11 21.2 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.136130421 NA 0 1.156320713 1.156320713 1 NA NA 0 NA NA 1 NA NA 1 1 0.15245715 1 2.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 6907616 G C CD4 CCDS8562.1 r.? - - intronic 33 0 0 58 3 5.2 50 12 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.235959396 0.352594612 0.669208739 1.309042316 1.309042316 1 NA NA 0 NA NA 1 5 NA 1 1 0.003141421 1 2.49E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 7367967 A G PEX5 CCDS44823.1 r.? - - downstream 35 0 0 43 4 9.3 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.422004304 0.630601903 0.669208739 0.949055679 0.949055679 1 NA NA 0 NA NA 1 5 NA 1 1 0.000066 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 8321776 C A ZNF705A CCDS31737.1 r.? - - upstream 48 0 0 40 3 7.5 50 10 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.340326052 0.508549922 0.669208739 1.090868597 1.090868597 1 NA NA 0 NA NA 1 5 NA 1 1 0.001075403 1 8.36E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 8389377 G C AC092111.2 ENST00000499592 r.? - - intronic 34 0 0 69 2 2.9 50 5 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.13159274 0.13159274 1 0.545434298 0.545434298 1 NA NA 0 NA NA 1 1 NA 1 1 0.04704084 1 0.00000549 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 8703302 G A - - - - - - 50 0 0 39 3 7.7 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.349401413 0.522111253 0.669208739 1.390857461 1.390857461 1 NA NA 0 NA NA 1 5 NA 1 1 0.000998458 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 8829524 C A - - - - - - 32 0 0 43 4 9.3 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.422004304 0.630601903 0.669208739 1.559942094 1.559942094 1 NA NA 0 NA NA 1 5 NA 1 1 0.000066 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 10894661 C A - - - - - - 37 0 0 38 2 5.3 55 9 16.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.240497077 0.359375278 0.669208739 0.894512249 0.894512249 1 NA NA 0 NA NA 1 5 NA 1 1 0.015598339 1 1.01E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 13624783 C T - - - - - - 27 0 0 40 5 12.5 53 9 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.669208739 3 1 2 1 1 0.330791261 1 2 NA 1 NA 0.669208739 NA 0.567210087 0.567210087 1 0.927238307 0.927238307 1 NA NA 0 NA NA 1 5 NA 1 1 0.00000178 1 7.1E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 19509996 G A PLEKHA5 CCDS44840.1 r.? - - intronic 31 0 0 37 3 8.1 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.394346228 0.394346228 1 1.249044543 1.249044543 1 NA NA 1 NA NA 1 5 NA 1 1 0.000855237 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 21916207 A C KCNJ8 CCDS8692.1 r.? - - downstream 36 0 0 40 0 0 47 6 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.698155902 0.698155902 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 23045597 G C - - - - - - 32 0 0 41 0 0 47 6 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.698155902 0.698155902 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 23276796 C G - - - - - - 26 0 0 44 3 6.8 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.331056093 0.331056093 1 0.981781737 0.981781737 1 NA NA 1 NA NA 1 5 NA 1 1 0.00142027 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 29351449 C G - - - - - - 37 0 0 33 0 0 30 7 23.3 2 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 32472634 T G BICD1 CCDS8726.1 r.? - - intronic 28 0 0 26 4 15.4 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000856 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 34303202 G A AC046130.1 ENST00000501954 r.? - - intronic 35 0 0 40 4 10 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.386847195 0.386847195 1 1.077951002 1.077951002 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000495 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 38710312 T G ALG10B CCDS31772.1 r.? - - upstream 35 0 0 33 3 9.1 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.352030948 0.352030948 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 0.000609557 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 61817257 C T - - - - - - 26 0 0 22 3 13.6 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.390112186 0.390112186 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.000179267 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 72519507 A C - - - - - - 30 0 0 27 2 7.4 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.212266925 0.212266925 1 0.538877506 0.538877506 1 NA NA 1 NA NA 1 2 NA 1 1 0.00807567 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 73329095 T C - - - - - - 37 0 0 26 0 0 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 75003423 G C - - - - - - 38 0 0 20 1 5 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.143423598 0.143423598 1 0.480153675 0.480153675 1 NA NA 1 NA NA 1 1 NA 1 1 0.09538952 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 75352072 T C - - - - - - 36 0 0 24 3 12.5 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.358558994 0.358558994 1 1.046665924 1.046665924 1 NA NA 1 NA NA 1 5 NA 1 1 0.000233853 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 78835439 C T - - - - - - 45 0 0 37 9 24.3 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.697038685 0.697038685 1 1.001759465 1.001759465 1 NA NA 1 NA NA 1 5 NA 1 1 2.14E-13 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 86553975 C G - - - - - - 35 0 0 31 1 3.2 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.091791103 0.091791103 1 0.618327394 0.618327394 1 NA NA 1 NA NA 1 1 NA 1 1 0.143917729 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 106716344 A G TCP11L2 CCDS9104.1 r.? - - intronic 23 0 0 33 3 9.1 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.352030948 0.352030948 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 0.000609557 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 109369897 G T SVOP ENST00000299134 r.? - - intronic 34 1 2.9 48 10 20.8 30 9 30 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.804642166 0.804642166 1 1.336302895 1.336302895 1 NA NA 1 NA NA 1 5 NA 0.156694864 1 5.37E-14 1 2.54E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 113449841 T A OAS2 CCDS41839.1 r.? - - downstream 24 0 0 38 3 7.9 44 13 29.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.305609284 0.305609284 1 1.31403118 1.31403118 1 NA NA 1 NA NA 1 5 NA 1 1 0.000925091 1 5.49E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 120690169 A T PXN CCDS44998.1 r.? - - upstream 36 0 0 27 0 0 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 123437161 C G ABCB9 CCDS9241.1 r.? - - intronic 38 0 0 34 0 0 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 127292332 C G - - - - - - 40 0 0 33 0 0 46 5 10.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.485523385 0.485523385 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000361 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 128286539 G A - - - - - - 43 0 0 33 0 0 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 130492994 G A - - - - - - 33 0 0 30 2 6.7 38 11 28.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.259187621 0.259187621 1 1.287305122 1.287305122 1 NA NA 1 NA NA 1 5 NA 1 1 0.009909649 1 5.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 12 131029416 A G - - - - - - 27 0 0 36 0 0 49 7 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 22376049 A G - - - - - - 37 0 0 55 4 7.3 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.282398453 0.282398453 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 2 NA 1 1 0.000173903 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 23484749 T A AL162853.1 ENST00000379093 r.? - - intronic 27 0 0 27 5 18.5 36 15 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.715667311 0.715667311 1 1.857461024 1.857461024 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000023 1 1.54E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 23823663 A G SGCG CCDS9299.1 r.? - - intronic 23 0 0 39 4 10.3 49 7 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.398452611 0.398452611 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000447 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 25197752 C T - - - - - - 22 0 0 35 4 11.4 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.441005803 0.441005803 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000289 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 25249426 T C - - - - - - 20 0 0 29 3 10.3 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.398452611 0.398452611 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.000414371 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 31961594 T A - - - - - - 39 0 0 52 4 7.7 41 10 24.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.29787234 0.29787234 1 1.086859688 1.086859688 1 NA NA 1 NA NA 1 2 NA 1 1 0.000139698 1 9.51E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 32032379 A G - - - - - - 36 0 0 48 1 2.1 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.081237911 0.081237911 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 1 NA 1 1 0.213845552 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 32191934 G T - - - - - - 41 0 0 28 6 21.4 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 36295472 G A - - - - - - 34 0 0 34 5 14.7 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.568665377 0.568665377 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 37317530 C T - - - - - - 23 0 0 31 4 12.9 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.499032882 0.499032882 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000177 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 37814170 G T - - - - - - 39 0 0 26 3 11.5 45 15 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.444874275 0.444874275 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.000298167 1 9.14E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 38407542 A T TRPC4 CCDS45037.1 r.? - - intronic 35 0 0 24 4 16.7 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000613 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 38752742 G A - - - - - - 26 0 0 34 4 11.8 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.456479691 0.456479691 1 1.349665924 1.349665924 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000257 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 45143170 C A TSC22D1 CCDS31966.1 r.? - - intronic 41 0 0 38 3 7.9 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.226609284 0.226609284 1 0.649416481 0.649416481 1 NA NA 1 NA NA 1 2 NA 1 1 0.000925091 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 13 47725896 A T - - - - - - 48 0 0 30 1 3.3 19 4 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.094659574 0.094659574 1 0.72886637 0.72886637 1 NA NA 1 NA NA 1 1 NA 1 1 0.139615808 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 20687516 C G OR11H6 CCDS32033.1 r.? - - upstream 24 0 0 48 4 8.3 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.896217741 1.895406075 1 1 0 0 0.103782259 0.104593925 1 1 1 1 0.896217741 0.895406075 0.312469245 0.312469245 1 0.848201067 0.848201067 1 NA NA 1 NA NA 1 2 NA 1 1 0.000102016 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 26965059 T G ENSG00000248163 CCDS32061.1 r.? - - intronic 16 0 0 5 2 40 7 4 57.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.147388781 1.147388781 1 1.972429844 1.972429844 1 NA NA 1 NA NA 1 5 NA 1 1 0.000247509 1 2.16E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 39761018 A G CTAGE5 CCDS9674.1 r.? - - intronic 38 0 0 32 0 0 44 6 13.6 172 0 0 70 0 0 75 9 12 TRUE TRUE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.469790646 0.469790646 1 0 0 1 0.414521158 0.414521158 1 1 1 1 1 1 1 9.37E-08 1.82E-10 YES 0_0 1_1 somatic custom.pulldown.HiSeq PD9776b 14 45582798 G A PRPF39 CCDS9682.2 r.? - - intronic 26 0 0 36 4 11.1 35 11 31.4 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.318400387 0.318400387 1 1.084663697 1.084663697 1 NA NA 1 NA NA 1 2 NA 1 1 0.0000324 1 1.82E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 52419243 G T GNG2 CCDS32082.1 r.? - - intronic 29 0 0 33 5 15.2 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.603097328 0.603097328 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000066 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 53939844 G T - - - - - - 39 0 0 28 3 10.7 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.424548777 0.424548777 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 0.000372895 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 53939845 G T - - - - - - 40 0 0 30 3 10 24 6 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.396774558 0.396774558 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 0.000458697 1 1.95E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 54045034 C T - - - - - - 25 0 0 36 5 13.9 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.551516636 0.551516636 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000104 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 55382031 C T - - - - - - 18 0 0 23 6 26.1 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 1.035581596 1.035581596 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 1.47E-09 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 57216704 A T - - - - - - 29 0 0 30 4 13.3 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.527710162 0.527710162 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000154 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 58326372 G A - - - - - - 36 0 0 41 4 9.8 39 13 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.388839067 0.388839067 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000546 1 8.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 61021752 C T - - - - - - 34 0 0 42 2 4.8 30 10 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.099273626 2 1 1 1 1 0.900726374 1 2 NA 1 NA 0.099273626 NA 0.190451788 0.190451788 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 2 NA 1 1 0.018854633 1 2.68E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 62996801 T G - - - - - - 45 0 0 33 8 24.2 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.694170213 0.694170213 1 1.046665924 1.046665924 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-12 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 65146424 C T - - - - - - 38 0 0 23 3 13 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.372901354 0.372901354 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 0.000205387 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 67324178 G A GPHN CCDS9777.1 r.? - - intronic 36 0 0 26 0 0 25 10 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.381737194 1.381737194 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 2.98E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 70693011 C A - - - - - - 25 0 0 18 3 16.7 23 4 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.479034816 0.479034816 1 0.601055679 0.601055679 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000964 1 0.00000513 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 77027720 T A - - - - - - 27 0 0 30 3 10 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.386847195 0.386847195 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 0.000458697 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 79391226 G A NRXN3 CCDS9870.1 r.? - - intronic 43 0 0 36 3 8.3 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.321083172 0.321083172 1 0.775055679 0.775055679 1 NA NA 1 NA NA 1 5 NA 1 1 0.000788827 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 80571441 G A - - - - - - 33 0 0 42 3 7.1 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.274661509 0.274661509 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 2 NA 1 1 0.001240292 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 80871560 G T AC010849.1 ENST00000504475 r.? - - intronic 31 0 0 41 1 2.4 38 5 13.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.092843327 0.092843327 1 0.587973274 0.587973274 1 NA NA 1 NA NA 1 1 NA 1 1 0.18577148 1 0.00000137 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 81230341 C G C14orf145 CCDS32130.1 r.? - - intronic 31 0 0 40 1 2.5 50 7 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.096711799 0.096711799 1 0.623608018 0.623608018 1 NA NA 1 NA NA 1 1 NA 1 1 0.181679879 1 6.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 14 90616059 G A KCNK13 CCDS9889.1 r.? - - intronic 20 0 0 29 10 34.5 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.989622824 0.989622824 1 1.278106904 1.278106904 1 NA NA 1 NA NA 1 5 NA 1 1 1.79E-16 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 20212109 C G - - - - - - 32 0 0 35 2 5.7 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.220502901 0.220502901 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 2 NA 1 1 0.013332991 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 21167246 C A - - - - - - 95 0 0 107 7 6.5 113 8 7.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.251450677 0.251450677 1 0.316258352 0.316258352 1 NA NA 1 NA NA 1 3 NA 1 1 0.00000132 1 0.000000125 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 25131420 A T SNRPN CCDS10017.1 r.? - - intronic 34 1 2.9 37 7 18.9 31 9 29 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.731141199 0.731141199 1 1.291759465 1.291759465 1 NA NA 1 NA NA 1 5 NA 0.156694864 1 7.05E-10 1 3.57E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 30867711 A G - - - - - - 22 0 0 24 3 12.5 18 5 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 0.000233853 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 32727579 A G ENSG00000227798 ENST00000442178 r.? - - upstream 14 0 0 10 1 10 9 4 44.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.286847195 0.286847195 1 1.533728285 1.533728285 1 NA NA 1 NA NA 1 5 NA 1 1 0.04888987 1 7.72E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 34559144 T C SLC12A6 CCDS42011.1 r.? - - intronic 27 0 0 24 4 16.7 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.479034816 0.479034816 1 0.594146993 0.594146993 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000613 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 56589412 T G - - - - - - 32 0 0 40 1 2.5 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.071711799 0.071711799 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 1 NA 1 1 0.181679879 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 65355495 T A RASL12 CCDS10200.1 r.? - - intronic 26 0 0 34 2 5.9 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.228239845 0.228239845 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 0.012612579 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 66164890 A G RAB11A CCDS10212.1 r.? - - intronic 27 0 0 27 0 0 43 6 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.623608018 0.623608018 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 8.13E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 68282810 G C - - - - - - 37 0 0 36 3 8.3 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 0.404083172 0.404083172 1 1.142161586 1.142161586 1 NA NA 1 NA NA 1 5 NA 1 1 0.000788827 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 68438621 C T PIAS1 CCDS45290.1 r.? - - intronic 28 0 0 41 2 4.9 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.117176947 2 2 1 1 1 0.882823053 NA 2 NA 2 NA 0.117176947 0.238555126 0.238555126 1 0.724297591 0.724297591 1 NA NA 1 NA NA 1 2 NA 1 1 0.018015855 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 75441932 A T - - - - - - 41 0 0 61 3 4.9 50 8 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4.131936932 3 3 1 1 1 0.868063068 NA 3 NA 2 NA 0.131936932 0.287555126 0.287555126 1 1.053804787 1.053804787 1 NA NA 1 NA NA 1 5 NA 1 1 0.003623631 1 1.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 79757914 C G KIAA1024 CCDS32306.1 r.? - - intronic 38 0 0 44 1 2.3 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.088974855 0.088974855 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 1 NA 1 1 0.197923942 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 88895357 G A - - - - - - 33 0 0 36 2 5.6 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.216634429 0.216634429 1 1.256124722 1.256124722 1 NA NA 1 NA NA 1 5 NA 1 1 0.014070883 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 90156725 T A C15orf42 CCDS10352.2 r.? - - intronic 34 0 0 34 0 0 51 11 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1.94E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 91674872 A C SV2B CCDS10370.1 r.? - - intronic 30 0 0 38 3 7.9 51 13 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.305609284 0.305609284 1 1.135857461 1.135857461 1 NA NA 1 NA NA 1 5 NA 1 1 0.000925091 1 4.87E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 95102244 T G - - - - - - 38 0 0 33 0 0 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.543429844 0.543429844 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 15 98937238 C G - - - - - - 28 0 0 35 5 14.3 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 1.750556793 1.750556793 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000895 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 2705177 G A - - - - - - 22 0 0 33 6 18.2 14 4 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 1.54E-08 1 0.000000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 4240890 G A SRL CCDS42113.1 r.2699c>u c.? p.? 3'UTR variant 35 1 2.9 44 8 18.2 52 12 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.704061896 0.704061896 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 0.16091139 1 5.9E-11 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 6391595 T A - - - - - - 34 0 0 42 2 4.8 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.185686654 0.185686654 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 2 NA 1 1 0.018854633 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 7004119 C A - - - - - - 43 0 0 33 0 0 36 9 25 169 0 0 104 2 1.9 27 5 18.5 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.113585746 1.113585746 1 0.073500967 0.073500967 1 0.824053452 0.824053452 1 1 1 1 1 1 0.095955206 1.63E-13 0.00000023 YES 0_0 1_1 somatic custom.pulldown.HiSeq PD9776b 16 7348873 G T - - - - - - 28 0 0 46 1 2.2 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.085106383 0.085106383 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 1 NA 1 1 0.205924651 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 7566880 C A ENSG00000078328 CCDS45405.1 r.? - - intronic 34 0 0 32 4 12.5 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000201 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 7908517 T C - - - - - - 27 0 0 36 3 8.3 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.321083172 0.321083172 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 0.000788827 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 15953152 C A MYH11 CCDS45424.1 r.? - - upstream 27 0 0 35 3 8.6 38 14 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.332688588 0.332688588 1 1.639198218 1.639198218 1 NA NA 1 NA NA 1 5 NA 1 1 0.000725791 1 5.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 17412897 C T XYLT1 CCDS10569.1 r.? - - intronic 33 0 0 30 2 6.7 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.259187621 0.259187621 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 0.009909649 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 19706082 C T C16orf62 CCDS32397.1 r.? - - intronic 21 0 0 32 3 9.4 43 11 25.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.363636364 0.363636364 1 1.140311804 1.140311804 1 NA NA 1 NA NA 1 5 NA 1 1 0.000556213 1 2.42E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 21541994 C T ENSG00000217794 ENST00000403120 r.? - - downstream 54 0 0 54 4 7.4 60 10 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.286266925 0.286266925 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 2 NA 1 1 0.000161898 1 5.86E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 22891798 A T HS3ST2 CCDS10606.1 r.? - - intronic 38 0 0 46 2 4.3 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.166344294 0.166344294 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 2 NA 1 1 0.022369545 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 27478913 G A GTF3C1 CCDS32414.1 r.? - - intronic 38 0 0 51 4 7.8 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.301740812 0.301740812 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 2 NA 1 1 0.000129466 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 32826920 G T - - - - - - 21 0 0 13 5 38.5 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.489361702 1.489361702 1 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 3.89E-09 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 34173612 A T - - - - - - 52 0 0 42 5 11.9 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.460348162 0.460348162 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000228 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 47731054 G C PHKB CCDS42161.1 r.? - - intronic 29 0 0 29 6 20.7 42 11 26.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.800773694 0.800773694 1 1.167037862 1.167037862 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 1.81E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 48117543 G T ABCC12 CCDS10730.1 r.4509c>a c.? p.? 3'UTR variant 32 0 0 47 1 2.1 37 6 16.2 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.081237911 0.081237911 1 0.721603563 0.721603563 1 NA NA 1 NA NA 1 1 NA 1 1 0.209895027 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 61446197 C A - - - - - - 22 0 0 15 0 0 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 74098827 T A - - - - - - 37 0 0 22 4 18.2 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000425 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 16 85308690 C T - - - - - - 34 0 0 26 3 11.5 17 8 47.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.329874275 0.329874275 1 1.626995546 1.626995546 1 NA NA 1 NA NA 1 5 NA 1 1 0.000298167 1 9.12E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 4712940 G A PLD2 CCDS11057.1 r.? - - intronic 29 0 0 28 3 10.7 39 13 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.413926499 0.413926499 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.000372895 1 8.79E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 10275087 T G MYH13 CCDS45613.1 r.? - - intronic 36 0 0 31 3 9.7 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.278241779 0.278241779 1 0.607964365 0.607964365 1 NA NA 1 NA NA 1 2 NA 1 1 0.000505952 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 11233932 T A SHISA6 CCDS45615.1 r.? - - intronic 29 0 0 30 5 16.7 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.479034816 0.479034816 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 13418631 C T HS3ST3A1 CCDS11165.1 r.? - - intronic 29 0 0 33 4 12.1 28 8 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.347085106 0.347085106 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000228 1 1.11E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 29801849 G A RAB11FIP4 CCDS11267.1 r.? - - intronic 25 0 0 18 7 38.9 28 11 39.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 1.11583559 1.11583559 1 1.357556793 1.357556793 1 NA NA 1 NA NA 1 5 NA 1 1 2.37E-12 1 9.7E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 31934432 C G ACCN1 CCDS42296.1 r.? - - intronic 24 0 0 20 1 5 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.143423598 0.143423598 1 0.791044543 0.791044543 1 NA NA 1 NA NA 1 2 NA 1 1 0.09538952 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 41997516 C A - - - - - - 16 0 0 23 5 21.7 18 7 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.622458414 0.622458414 1 1.343739421 1.343739421 1 NA NA 1 NA NA 1 5 NA 1 1 9.75E-08 1 2.37E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 47603806 A G - - - - - - 32 0 0 49 4 8.2 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.3172147 0.3172147 1 1.318485523 1.318485523 1 NA NA 1 NA NA 1 5 NA 1 1 0.000110643 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 48671403 C A CACNA1G CCDS45735.1 r.? - - intronic 41 0 0 35 4 11.4 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.441005803 0.441005803 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000289 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 54392892 C A ANKFN1 CCDS32686.1 r.? - - intronic 32 0 0 48 1 2.1 52 9 17.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.102237911 0.102237911 1 0.943601336 0.943601336 1 NA NA 1 NA NA 1 1 NA 1 1 0.213845552 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 61492021 C T TANC2 CCDS45754.1 r.? - - intronic 26 0 0 35 4 11.4 59 8 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.555005803 0.555005803 1 0.741790646 0.741790646 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000289 1 6.9E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 66557737 T C FAM20A CCDS11679.1 r.? - - intronic 36 0 0 41 11 26.8 45 15 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.036750484 1.036750484 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.34E-16 1 9.14E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 66806408 G A - - - - - - 40 0 0 28 1 3.6 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.13926499 0.13926499 1 0.913140312 0.913140312 1 NA NA 1 NA NA 1 2 NA 1 1 0.130947004 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 70516011 G T - - - - - - 27 0 0 40 1 2.5 28 5 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.096711799 0.096711799 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 1 NA 1 1 0.181679879 1 0.000000279 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 71546623 G C SDK2 CCDS45769.1 r.? - - intronic 21 0 0 31 3 9.7 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.375241779 0.375241779 1 1.723830735 0.861915367 2 NA NA 1 NA NA 1 5 NA 1 1 0.000505952 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 72916017 G C USH1G CCDS32725.1 r.1097c>g c.914C>G p.S305C missense 40 0 0 38 4 10.5 15 7 46.7 178 0 0 337 46 13.6 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.406189555 0.406189555 1 2.080178174 1.040089087 2 0.526112186 0.526112186 1 NA NA 1 5 NA 1 1 0.0000403 4.62E-50 4.85E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 17 72921983 C G USH1G CCDS32725.1 r.? - - upstream 30 0 0 34 3 8.8 27 7 25.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.340425532 0.340425532 1 1.153674833 1.153674833 1 NA NA 1 NA NA 1 5 NA 1 1 0.000666058 1 6.36E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 1996480 C T - - - - - - 32 0 0 49 3 6.1 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.296976789 0.296976789 1 0.970873051 0.970873051 1 NA NA 1 NA NA 1 5 NA 1 1 0.001939399 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 7201205 C G - - - - - - 38 0 0 51 1 2 51 6 11.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.097369439 0.097369439 1 0.643612472 0.643612472 1 NA NA 1 NA NA 1 1 NA 1 1 0.225579006 1 0.000000232 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 9984744 G A - - - - - - 40 0 0 37 4 10.8 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.525794971 0.525794971 1 1.063596882 1.063596882 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000362 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 11541743 A T - - - - - - 38 0 0 56 1 1.8 49 8 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.087632495 0.087632495 1 0.889057906 0.889057906 1 NA NA 1 NA NA 1 1 NA 1 1 0.244746891 1 1.47E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 14236392 C T - - - - - - 28 0 0 41 1 2.4 40 5 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.116843327 0.116843327 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 2 NA 1 1 0.18577148 1 0.00000178 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 26143425 T A - - - - - - 31 0 0 55 8 14.5 49 5 10.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.757608217 0.757608217 1 0.636696266 0.636696266 1 NA NA 1 NA NA 1 5 NA 1 1 3.86E-10 1 0.00000496 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 26966724 G A - - - - - - 30 0 0 53 3 5.7 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.297818403 0.83560079 0.356412304 0.948802278 0.948802278 1 NA NA 1 NA NA 1 5 NA 1 1 0.002429596 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 31131010 G C - - - - - - 24 0 0 51 3 5.9 52 10 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.308268171 0.864920116 0.356412304 1.198487088 1.198487088 1 NA NA 1 NA NA 1 5 NA 1 1 0.002175924 1 1.28E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 31583788 G T NOL4 CCDS11907.2 r.? - - intronic 34 0 0 61 0 0 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0 0 1 1.49186674 1.49186674 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 32279452 A C DTNA CCDS45848.1 r.? - - intronic 31 0 0 56 2 3.6 52 5 9.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.188095833 0.527747867 0.356412304 0.599243544 0.599243544 1 NA NA 1 NA NA 1 5 NA 1 1 0.032213353 1 0.00000668 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 32576666 A G MAPRE2 CCDS45850.1 r.? - - intronic 38 0 0 62 0 0 50 5 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0 0 1 0.624212025 0.624212025 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000549 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 36334465 G A - - - - - - 38 0 0 53 2 3.8 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.356412304 3.787777267 2 2 1 1 0.643587696 0.212222733 3 3 1 1 0.356412304 0.787777267 0.198545602 0.557067193 0.356412304 0.936318038 0.936318038 1 NA NA 1 NA NA 1 5 NA 1 1 0.029108399 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 44419406 G A PIAS2 CCDS32824.1 r.? - - intronic 35 0 0 58 4 6.9 34 5 14.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.335924565 0.335924565 1 0.801788419 0.801788419 1 NA NA 1 NA NA 1 5 NA 1 1 0.000213772 1 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 46528018 G A - - - - - - 33 0 0 39 5 12.8 29 5 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.62316441 0.62316441 1 0.938146993 0.938146993 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000156 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 47459166 T A MYO5B CCDS42436.1 r.? - - intronic 29 0 0 50 1 2 49 9 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.097369439 0.097369439 1 1.003599109 1.003599109 1 NA NA 1 NA NA 1 2 NA 1 1 0.221687443 1 3.35E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 47731229 T G - - - - - - 24 0 0 46 4 8.7 52 12 23.1 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.42355706 0.42355706 1 1.259953229 1.259953229 1 NA NA 1 0 0 1 5 NA 1 1 0.0000862 1 4.19E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 47939212 C T - - - - - - 23 0 0 49 4 8.2 46 7 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.3992147 0.3992147 1 0.829060134 0.829060134 1 NA NA 1 NA NA 1 5 NA 1 1 0.000110643 1 3.53E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 49144763 A T - - - - - - 38 0 0 39 3 7.7 50 13 26 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.37487234 0.37487234 1 1.418129176 1.418129176 1 NA NA 1 NA NA 1 5 NA 1 1 0.000998458 1 3.65E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 52649561 T C - - - - - - 50 0 0 53 4 7.5 48 9 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.365135397 0.365135397 1 1.025416481 1.025416481 1 NA NA 1 NA NA 1 5 NA 1 1 0.000150502 1 2.75E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 52984122 C A TCF4 CCDS42438.1 r.? - - intronic 36 0 0 46 4 8.7 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.42355706 0.42355706 1 0.927238307 0.927238307 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000862 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 53452516 G A AC022031.1 ENST00000498862 r.? - - upstream 28 0 0 47 4 8.5 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.413820116 0.413820116 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000939 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 74197448 T G ZNF516 ENST00000217537 r.? - - intronic 40 0 0 30 4 13.3 23 11 47.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.38150677 0.38150677 1 1.651175947 1.651175947 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000154 1 6.25E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 18 77148078 G T - - - - - - 35 0 0 20 2 10 16 5 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.286847195 0.286847195 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 0.004473894 1 0.000000013 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 2645225 T C GNG7 CCDS12091.1 r.? - - intronic 39 0 0 33 3 9.1 28 6 21.4 1 0 0 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.352030948 0.352030948 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 0.000609557 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 6321152 T C ACER1 CCDS12161.1 r.? - - intronic 27 0 0 34 5 14.7 36 9 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.568665377 0.568665377 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000771 1 1.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 10065734 C A COL5A3 CCDS12222.1 r.? - - downstream 20 0 0 45 0 0 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 11807798 A G - - - - - - 42 1 2.4 45 10 22.2 29 11 37.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.688195991 1.688195991 1 NA NA 1 NA NA 1 5 NA 0.189842622 1 2.66E-14 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 16306691 G A AP1M1 CCDS46008.1 r.? - - upstream 40 0 0 41 0 0 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 18912668 C G - - - - - - 22 0 0 32 3 9.4 31 8 25.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.363636364 0.363636364 1 1.14922049 1.14922049 1 NA NA 1 NA NA 1 5 NA 1 1 0.000556213 1 2.78E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 29397683 C T - - - - - - 29 0 0 31 4 12.9 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.499032882 0.499032882 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000177 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 34075019 C A - - - - - - 22 0 0 30 0 0 45 5 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.494432071 0.494432071 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 36169909 C T UPK1A CCDS12470.1 r.? - - downstream 26 0 0 46 4 8.7 49 11 22.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 3.150439412 1 2 1 1 1 0.849560588 NA 2 NA 2 NA 0.150439412 0.33655706 0.33655706 1 1.255471257 1.255471257 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000862 1 1.19E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 51480919 C G KLK7 CCDS12812.1 r.737g>c c.635G>C p.R212T missense 35 0 0 30 4 13.3 33 8 24.2 165 0 0 94 16 17 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.51450677 0.51450677 1 1.077951002 1.077951002 1 0.657640232 0.657640232 1 NA NA 1 5 NA 1 1 0.0000154 4.85E-20 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 19 57435638 C G - - - - - - 34 1 2.9 45 7 15.6 30 8 26.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.603481625 0.603481625 1 1.189309577 1.189309577 1 NA NA 1 NA NA 1 5 NA 0.156694864 1 0.000000003 1 2.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 2216447 C A MYT1L CCDS46222.1 r.? - - intronic 37 0 0 41 2 4.9 48 6 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.238555126 0.238555126 1 0.681792873 0.681792873 1 NA NA 1 NA NA 1 2 NA 1 1 0.018015855 1 0.00000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 2560392 G C - - - - - - 35 0 0 33 1 3 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.146054159 0.146054159 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 2 NA 1 1 0.15245715 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 3806614 G A ENSG00000214866 ENST00000423741 r.? - - intronic 32 0 0 34 4 11.8 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.574479691 0.574479691 1 1.619939866 1.619939866 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000257 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 3978129 A C - - - - - - 19 0 0 37 4 10.8 38 4 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 3 3 0 0 1 1 NA NA NA NA NA NA 0.525794971 0.525794971 1 0.572706013 0.572706013 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000362 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 14158708 C A - - - - - - 25 0 0 58 3 5.2 60 9 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.305160542 0.305160542 1 0.968151448 0.968151448 1 NA NA 1 NA NA 1 5 NA 1 1 0.003141421 1 2.29E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 14691527 T A - - - - - - 44 0 0 55 0 0 48 6 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.806792873 0.806792873 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 15143399 G C - - - - - - 34 0 0 58 2 3.4 52 9 17.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.199528046 0.199528046 1 1.116601336 1.116601336 1 NA NA 1 NA NA 1 2 NA 1 1 0.034352256 1 5.92E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 15479093 C A NBAS CCDS1685.1 r.? - - intronic 34 0 0 61 7 11.5 61 15 24.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.674874275 0.674874275 1 1.587768374 0.793884187 2 NA NA 1 NA NA 1 5 NA 1 1 2.69E-08 1 1.73E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 17563415 G A - - - - - - 43 0 0 66 4 6.1 47 10 21.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.357976789 0.357976789 1 1.374775056 1.374775056 1 NA NA 1 NA NA 1 5 NA 1 1 0.000351793 1 4.27E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 21356003 C G ENSG00000218819 ENST00000405799 r.? - - intronic 28 0 0 68 2 2.9 59 6 10.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.170185687 0.170185687 1 0.658342984 0.658342984 1 NA NA 1 NA NA 1 2 NA 1 1 0.045825786 1 0.000000561 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 21356004 C G ENSG00000218819 ENST00000405799 r.? - - intronic 30 0 0 70 2 2.9 60 6 10 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.170185687 0.170185687 1 0.645434298 0.645434298 1 NA NA 1 NA NA 1 2 NA 1 1 0.048267597 1 0.000000621 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 22069149 C A - - - - - - 31 0 0 57 0 0 50 7 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.903608018 0.903608018 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 6.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 22096238 G T - - - - - - 31 0 0 52 1 1.9 47 6 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.111500967 0.111500967 1 0.826155902 0.826155902 1 NA NA 1 NA NA 1 2 NA 1 1 0.229451111 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 23262928 G T - - - - - - 29 0 0 43 4 9.3 52 7 13.5 0 0 NA 2 0 0 0 0 NA TRUE FALSE 4 4 3 3 1 1 1 1 NA NA NA NA NA NA 0.545767892 0.545767892 1 0.871336303 0.871336303 1 0 0 1 NA NA 1 5 NA 1 1 0.000066 1 8.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 30579755 C T - - - - - - 31 0 0 46 2 4.3 60 13 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.209344294 0.209344294 1 1.183592428 1.183592428 1 NA NA 1 NA NA 1 5 NA 1 1 0.022369545 1 5.07E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 39723742 T C - - - - - - 32 0 0 48 4 8.3 45 8 17.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.321083172 0.321083172 1 0.792873051 0.792873051 1 NA NA 1 NA NA 1 2 NA 1 1 0.000102016 1 7.14E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 40260924 T A - - - - - - 26 0 0 39 4 10.3 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.398452611 0.398452611 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000447 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 46325156 G C PRKCE CCDS1824.1 r.? - - intronic 28 1 3.6 31 5 16.1 47 12 25.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.622823985 0.622823985 1 1.135857461 1.135857461 1 NA NA 1 NA NA 1 5 NA 0.130947004 1 0.000000476 1 1.09E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 56131993 C A EFEMP1 CCDS1857.1 r.? - - intronic 41 0 0 24 1 4.2 34 7 20.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.162475822 0.162475822 1 0.917594655 0.917594655 1 NA NA 1 NA NA 1 5 NA 1 1 0.113346489 1 3.73E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 65279246 T G CEP68 CCDS1880.2 r.? - - upstream 35 0 0 33 5 15.2 38 10 26.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.588007737 0.588007737 1 1.171492205 1.171492205 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000066 1 4.06E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 66371180 T A - - - - - - 28 0 0 26 7 26.9 20 5 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.040618956 1.040618956 1 1.113585746 1.113585746 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 67647020 C T - - - - - - 31 0 0 32 4 12.5 32 6 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 0.837416481 0.837416481 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000201 1 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 68060578 C A - - - - - - 37 0 0 26 3 11.5 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.444874275 0.444874275 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 0.000298167 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 69537468 G A - - - - - - 27 0 0 43 10 23.3 46 11 23.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.901353965 0.901353965 1 1.064587973 1.064587973 1 NA NA 1 NA NA 1 5 NA 1 1 1.61E-14 1 5.55E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 75056549 C T HK2 CCDS1956.1 r.? - - upstream 26 0 0 30 4 13.3 29 11 37.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.51450677 0.51450677 1 1.688195991 1.688195991 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000154 1 1.56E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 83107742 C A - - - - - - 39 0 0 24 2 8.3 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.321083172 0.321083172 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 0.006413403 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 83462385 C A - - - - - - 36 0 0 31 4 12.9 47 6 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.499032882 0.499032882 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000177 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 89857249 C G - - - - - - 65 0 0 56 2 3.6 77 7 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 0.13926499 0.13926499 1 0.446085531 0.996403171 0.447695816 NA NA 1 NA NA 1 2 NA 1 1 0.032213353 1 0.000000138 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 91896907 C G - - - - - - 125 0 0 134 6 4.5 140 8 5.7 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 2 2.447695816 1 1 1 1 1 0.552304184 NA 2 NA 1 NA 0.447695816 0.174081238 0.174081238 1 0.279416212 0.624120667 0.447695816 NA NA 1 0 0 1 2 NA 1 1 0.0000649 1 0.000000649 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 104693955 C T - - - - - - 30 0 0 40 3 7.5 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 0.267022004 0.385969548 0.691821428 0.810690423 0.810690423 1 NA NA 0 NA NA 1 5 NA 1 1 0.001075403 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 106765559 A C UXS1 CCDS46378.1 r.? - - intronic 27 0 0 50 2 4 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 0.142411735 0.142411735 1 0.810690423 0.810690423 1 NA NA 0 NA NA 1 2 NA 1 1 0.026131524 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 108278995 G A - - - - - - 28 0 0 46 1 2.2 34 6 17.6 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 0.078326454 NA 0 0.783964365 0.783964365 1 NA NA 0 NA NA 1 NA NA 1 1 0.205924651 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 110925979 A T NPHP1 CCDS2086.1 r.? - - intronic 29 0 0 32 0 0 41 11 26.8 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 1.691821428 2 1 2 0 0 0.308178572 1 2 NA 0 NA 0.691821428 NA 0 NA 0 1.19376392 1.19376392 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1.34E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 116604378 C A DPP10 CCDS46400.1 r.? - - downstream 34 0 0 22 4 18.2 23 5 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 0.749592428 0.749592428 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000425 1 9.75E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 118936552 G T - - - - - - 46 0 0 22 2 9.1 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.261030948 0.261030948 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 2 NA 1 1 0.005403392 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 123120944 C T - - - - - - 48 0 0 22 4 18.2 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000425 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 125639915 G A CNTNAP5 CCDS46401.1 r.? - - intronic 30 0 0 22 5 22.7 29 13 44.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.651143133 0.651143133 1 1.547545657 1.547545657 1 NA NA 1 NA NA 1 5 NA 1 1 7.67E-08 1 7.69E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 132722119 A C - - - - - - 31 0 0 36 2 5.6 27 4 14.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.160634429 0.160634429 1 0.511242762 0.511242762 1 NA NA 1 NA NA 1 2 NA 1 1 0.014070883 1 0.00001 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 139898827 C A - - - - - - 36 0 0 20 2 10 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.286847195 0.286847195 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 5 NA 1 1 0.004473894 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 141914633 A G LRP1B CCDS2182.1 r.? - - intronic 25 0 0 26 0 0 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 143488911 G A - - - - - - 38 0 0 20 2 10 24 7 29.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.286847195 0.286847195 1 1.008668151 1.008668151 1 NA NA 1 NA NA 1 5 NA 1 1 0.004473894 1 2.51E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 144532352 C G - - - - - - 25 0 0 15 1 6.7 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.192187621 0.192187621 1 0.829042316 0.829042316 1 NA NA 1 NA NA 1 5 NA 1 1 0.072431031 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 159944986 C T TANC1 CCDS42766.1 r.? - - intronic 36 0 0 34 3 8.8 44 12 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 0.317941668 0.427053066 0.744501546 1.216035635 1.216035635 1 NA NA 0 NA NA 1 5 NA 1 1 0.000666058 1 4.44E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 160925040 G A - - - - - - 33 0 0 28 4 14.3 33 10 30.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 0.51665521 0.51665521 1 1.349665924 1.349665924 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000116 1 8.14E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 160930406 A T - - - - - - 34 0 0 43 0 0 39 6 15.4 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 0 NA 0 0.68596882 0.68596882 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 180823268 T A CWC22 CCDS46465.1 r.? - - intronic 49 0 0 45 0 0 42 5 11.9 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 0 NA 0 0.530066815 0.530066815 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 206050189 G C PARD3B CCDS42806.1 r.? - - intronic 35 0 0 28 3 10.7 44 13 29.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 0.386588164 0.519257706 0.744501546 1.31403118 1.31403118 1 NA NA 0 NA NA 1 5 NA 1 1 0.000372895 1 5.49E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 206564288 G C NRP2 CCDS2364.1 r.? - - intronic 37 0 0 49 4 8.2 37 6 16.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 0.296263827 0.296263827 1 0.721603563 0.721603563 1 NA NA 0 NA NA 1 2 NA 1 1 0.000110643 1 3.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 206802534 A T - - - - - - 25 0 0 31 1 3.2 29 5 17.2 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 1.744501546 2 1 2 0 0 0.255498454 1 2 NA 0 NA 0.744501546 NA 0.115615152 NA 0 0.766146993 0.766146993 1 NA NA 0 NA NA 1 NA NA 1 1 0.143917729 1 0.000000336 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 208408922 C A CREB1 CCDS2375.1 r.? - - intronic 28 0 0 20 0 0 30 7 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.804861915 0.804861915 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1.44E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 227771921 G C RHBDD1 CCDS2464.1 r.? - - intronic 37 0 0 44 1 2.3 42 5 11.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.088974855 0.088974855 1 0.530066815 0.530066815 1 NA NA 1 NA NA 1 1 NA 1 1 0.197923942 1 0.00000228 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 2 234413121 G T USP40 CCDS46547.1 r.? - - intronic 37 0 0 35 0 0 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 7404716 C G - - - - - - 21 0 0 19 2 10.5 32 8 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.301189555 0.301189555 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 0.004039874 1 3.69E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 11724371 G T - - - - - - 44 0 0 43 0 0 33 6 18.2 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 0 NA 0 0.810690423 0.810690423 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 11816879 G A C20orf61 ENST00000427835 r.? - - intronic 38 0 0 30 2 6.7 53 11 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 0.245487809 0.308585837 0.795525197 0.926503341 0.926503341 1 NA NA 0 NA NA 1 5 NA 1 1 0.009909649 1 3.07E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 11816880 A T C20orf61 ENST00000427835 r.? - - intronic 39 0 0 30 2 6.7 53 11 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 0.245487809 0.308585837 0.795525197 0.926503341 0.926503341 1 NA NA 0 NA NA 1 5 NA 1 1 0.009909649 1 3.07E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 14656021 C A MACROD2 CCDS13120.2 r.? - - intronic 33 1 3 20 3 15 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.795525197 2 1 2 0 0 0.204474803 1 2 NA 0 NA 0.795525197 NA 0.549599573 0.549599573 1 1.028953229 1.028953229 1 NA NA 0 NA NA 1 5 NA 0.15245715 1 0.0001337 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 35646271 C G RBL1 CCDS13289.1 r.? - - intronic 36 0 0 36 6 16.7 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 35744934 C A C20orf132 ENST00000343811 r.? - - intronic 32 0 0 34 3 8.8 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.340425532 0.340425532 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 0.000666058 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 37768616 G A - - - - - - 34 0 0 56 0 0 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.619153675 0.619153675 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 53503608 T C - - - - - - 35 0 0 42 4 9.5 42 13 31 0 0 NA 0 0 NA 2 2 100 TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.462504836 0.462504836 1 1.690846325 0.845423163 2 NA NA 1 5.454342984 2.727171492 2 5 NA 1 1 0.0000601 1 2.72E-20 0.000025 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 54732443 G A - - - - - - 36 0 0 42 1 2.4 43 16 37.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.116843327 0.116843327 1 2.02901559 1.014507795 2 NA NA 1 NA NA 1 2 NA 1 1 0.189842622 1 3.56E-26 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 54757860 C G - - - - - - 29 0 0 52 0 0 41 4 9.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.534525612 0.534525612 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000546 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 20 61890893 C T NKAIN4 ENST00000370307 r.? - - intronic 28 0 0 38 4 10.5 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.511189555 0.511189555 1 1.090868597 1.090868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000403 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 9503494 A T - - - - - - 80 0 0 73 3 4.1 51 8 15.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.13939139 0.13939139 1 0.619636752 0.619636752 1 NA NA 1 NA NA 1 2 NA 1 1 0.005990531 1 2.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 10367970 T G - - - - - - 69 0 0 80 1 1.2 61 5 8.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.04079748 0.04079748 1 0.323631934 0.657270253 0.492387923 NA NA 1 NA NA 1 1 NA 1 1 0.33035218 1 0.0000147 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 15265613 C T - - - - - - 66 0 0 71 2 2.8 67 9 13.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.531318039 1.492387923 1 1 0 0 0.468681961 0.507612077 1 1 1 1 0.531318039 0.492387923 0.09519412 0.09519412 1 0.528861942 1.074075779 0.492387923 NA NA 1 NA NA 1 1 NA 1 1 0.04950591 1 6.43E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 16226861 T A - - - - - - 39 0 0 37 0 0 27 6 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.766864143 0.766864143 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 4.23E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 39600096 T C - - - - - - 24 0 0 50 5 10 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.51599639 0.51599639 1 0.628690423 0.628690423 1 NA NA 1 NA NA 0 5 NA 1 1 0.00000549 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 44354346 C T - - - - - - 36 0 0 39 2 5.1 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.263158159 0.902797363 0.291491944 0.642507795 0.642507795 1 NA NA 1 NA NA 0 5 NA 1 1 0.016387522 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 45436821 C A TRAPPC10 CCDS13704.1 r.? - - intronic 21 0 0 63 0 0 66 10 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0 0 1 0.525060134 0.525060134 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 1.6E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 45779004 A C TRPM2 CCDS13710.1 r.? - - intronic 24 0 0 56 3 5.4 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.27863805 0.955903091 0.291491944 0.421429844 0.421429844 1 NA NA 1 NA NA 0 5 NA 1 1 0.00284314 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 46888526 C T COL18A1 ENST00000359759 r.1743c>u c.1722C>T p.V574V silent 35 0 0 57 0 0 39 7 17.9 145 0 0 282 11 3.9 0 0 NA FALSE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0 NA 0 0.618327394 0.618327394 1 0.201238592 0.690374454 0.291491944 NA NA 0 NA NA 1 1 1 0.000000261 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 21 47252126 T A PCBP3 CCDS42974.2 r.? - - intronic 29 0 0 49 1 2 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.291491944 1 2 1 1 0 0.708508056 1 3 NA 1 NA 0.291491944 NA 0.103199278 0.103199278 1 0.780681514 0.780681514 1 NA NA 1 NA NA 0 1 NA 1 1 0.217776325 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 28734053 G A TTC28 CCDS46678.1 r.? - - intronic 27 1 3.7 31 2 6.5 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.251450677 0.251450677 1 1.073496659 1.073496659 1 NA NA 1 NA NA 1 5 NA 0.126579904 1 0.010558179 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 39146245 C T SUN2 CCDS13978.1 r.864g>a c.505G>A p.V169M missense 24 0 0 33 5 15.2 34 8 23.5 197 0 0 317 65 20.5 4 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.588007737 0.588007737 1 1.046770601 1.046770601 1 0.79303675 0.79303675 1 0 0 1 5 5 1 1 0.00000066 3.02E-82 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 42899387 G A - - - - - - 12 0 0 8 0 0 18 5 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 5 NA 1 1 1 1 2.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 43266048 C T PACSIN2 CCDS43023.1 r.2978g>a c.? p.? 3'UTR variant 21 0 0 26 3 11.5 17 5 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.444874275 0.444874275 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 0.000298167 1 1.84E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 22 48254981 C G - - - - - - 29 0 0 29 6 20.7 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.800773694 0.800773694 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 802495 C G - - - - - - 14 0 0 18 1 5.6 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.328634429 0.328634429 1 1.845942094 1.845942094 1 NA NA 1 NA NA 1 5 NA 1 1 0.086275114 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 2629715 C T CNTN4 CCDS43041.1 r.? - - intronic 22 0 0 56 0 0 51 7 13.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0 0 1 0.884244989 0.884244989 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 7.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 7655996 C G GRM7 CCDS43042.1 r.? - - intronic 25 0 0 60 2 3.3 53 8 15.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.193659574 0.193659574 1 0.974605791 0.974605791 1 NA NA 1 NA NA 1 2 NA 1 1 0.036544784 1 2.83E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 10053090 G C - - - - - - 29 0 0 53 1 1.9 29 7 24.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.111500967 0.111500967 1 1.555496659 1.555496659 1 NA NA 1 NA NA 1 2 NA 1 1 0.233303855 1 1.11E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 13744224 A G - - - - - - 22 0 0 53 1 1.9 53 7 13.2 20 0 0 38 2 5.3 1 0 0 TRUE TRUE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.111500967 0.111500967 1 0.851973274 0.851973274 1 0.311029014 0.311029014 1 0 0 1 1 5 1 1 0.233303855 0.015598339 9.85E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 20481147 G T - - - - - - 22 0 0 23 4 17.4 28 12 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.67311412 0.67311412 1 1.91091314 1.91091314 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000513 1 6.9E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 21669651 G A ZNF385D CCDS2636.1 r.? - - intronic 25 0 0 44 3 6.8 46 10 21.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.263056093 0.263056093 1 0.966592428 0.966592428 1 NA NA 1 NA NA 1 2 NA 1 1 0.00142027 1 3.38E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 29863379 T C RBMS3 CCDS33725.1 r.? - - intronic 44 0 0 24 4 16.7 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.479034816 0.479034816 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000613 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 32166559 A G GPD1L CCDS33729.1 r.? - - intronic 34 0 0 23 1 4.3 29 10 34.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.123344294 0.123344294 1 1.19174833 1.19174833 1 NA NA 1 NA NA 1 2 NA 1 1 0.108890944 1 1.79E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 42985299 A T ENSG00000240747 ENST00000418176 r.? - - downstream 39 0 0 44 12 27.3 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.056092843 1.056092843 1 0.775055679 0.775055679 1 NA NA 1 NA NA 1 5 NA 1 1 4.44E-18 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 63291713 C A SYNPR CCDS46859.1 r.? - - intronic 45 0 0 38 1 2.6 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.100580271 0.100580271 1 0.93986637 0.93986637 1 NA NA 1 NA NA 1 2 NA 1 1 0.173434892 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 68271184 A C FAM19A1 ENST00000478136 r.? - - intronic 36 0 0 43 3 7 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.270793037 0.270793037 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 2 NA 1 1 0.001328364 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 68430363 A C FAM19A1 ENST00000478136 r.? - - intronic 36 0 0 28 8 28.6 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.106382979 1.106382979 1 0.574610245 0.574610245 1 NA NA 1 NA NA 1 5 NA 1 1 1.11E-12 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 68820040 G A FAM19A4 CCDS2907.1 r.? - - intronic 32 0 0 25 2 8 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.309477756 0.309477756 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 5 NA 1 1 0.006948068 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 69010613 T G - - - - - - 27 0 0 55 3 5.5 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.212765957 0.212765957 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 2 NA 1 1 0.002700822 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 80992148 A T - - - - - - 28 0 0 39 4 10.3 48 13 27.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.398452611 0.398452611 1 1.207126949 1.207126949 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000447 1 2E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 82748190 T C - - - - - - 34 0 0 40 4 10 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.386847195 0.386847195 1 0.975501114 0.975501114 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000495 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 88452078 G T - - - - - - 44 0 0 40 3 7.5 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.290135397 0.290135397 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 0.001075403 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 89592253 T A - - - - - - 26 0 0 24 6 25 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.819599109 0.819599109 1 NA NA 1 NA NA 1 5 NA 1 1 1.95E-09 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 94388360 A G - - - - - - 25 0 0 35 4 11.4 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.441005803 0.441005803 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000289 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 97793994 T G - - - - - - 31 0 0 41 3 7.3 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.282398453 0.282398453 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 0.001155993 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 106677845 A G - - - - - - 31 0 0 34 14 41.2 27 5 18.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.593810445 1.593810445 1 0.824053452 0.824053452 1 NA NA 1 NA NA 1 5 NA 1 1 7.74E-24 1 0.00000023 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 111937765 T G SLC9A10 CCDS33817.1 r.? - - intronic 44 0 0 39 7 17.9 34 10 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.69245648 0.69245648 1 1.309576837 1.309576837 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-09 1 1.15E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 113168873 G A CCDC52 CCDS2973.1 r.? - - intronic 45 0 0 35 2 5.7 42 13 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.220502901 0.220502901 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 0.013332991 1 2.72E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 113540485 T A - - - - - - 24 0 0 45 2 4.4 38 4 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.170212766 0.170212766 1 0.467706013 0.467706013 1 NA NA 1 NA NA 1 2 NA 1 1 0.021467209 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 115635975 G A LSAMP CCDS2982.1 r.? - - intronic 34 1 2.9 28 7 25 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 1.082405345 1.082405345 1 NA NA 1 NA NA 1 5 NA 0.156694864 1 8.44E-11 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 117781977 G A - - - - - - 24 0 0 30 8 26.7 24 5 20.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.032882012 1.032882012 1 0.926503341 0.926503341 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 126944801 T A - - - - - - 41 0 0 34 7 20.6 54 12 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 1.414905222 1.414905222 1 1.210864143 1.210864143 1 NA NA 1 NA NA 0 5 NA 1 1 3.73E-10 1 6.9E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 133984867 C A - - - - - - 35 0 0 60 5 8.3 65 10 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3 3 2 2 1 1 1 NA NA NA NA NA NA 0.570083172 0.570083172 1 0.83996882 0.83996882 1 NA NA 1 NA NA 0 5 NA 1 1 0.0000136 1 1.36E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 134652331 G C EPHB1 CCDS46921.1 r.? - - intronic 35 0 0 61 4 6.6 61 8 13.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 0.453319149 0.453319149 1 0.790182524 0.790182524 1 NA NA 1 NA NA 0 5 NA 1 1 0.000259828 1 9.09E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 136253009 C A STAG1 CCDS3090.1 r.? - - intronic 29 1 3.4 59 5 8.5 55 16 29.1 0 0 NA 0 0 NA 1 0 0 TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 0.583820116 0.583820116 1 1.75529095 1.112644521 1.57758468 NA NA 1 0 NA 0 5 NA 0.135292269 1 0.0000125 1 3.78E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 137017179 C G - - - - - - 39 0 0 38 5 13.2 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 0.906638298 0.906638298 1 1.598460831 1.598460831 1 NA NA 1 NA NA 0 5 NA 1 1 0.00000137 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 137881695 A G DBR1 CCDS33863.1 r.? - - intronic 39 0 0 56 5 8.9 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 0.611294004 0.611294004 1 1.206385533 1.206385533 1 NA NA 1 NA NA 0 5 NA 1 1 0.00000965 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 144127866 G C - - - - - - 39 0 0 36 1 2.8 52 7 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 3.57758468 3 2 2 1 1 0.42241532 NA 3 NA 1 NA 0.57758468 0.192317215 0.192317215 1 0.814310235 0.814310235 1 NA NA 1 NA NA 0 5 NA 1 1 0.165106833 1 8.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 147042437 C G - - - - - - 38 0 0 37 3 8.1 38 8 21.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.556346228 0.556346228 1 1.57286637 1.57286637 1 NA NA 1 NA NA 1 5 NA 1 1 0.000855237 1 1.67E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 152459664 C A - - - - - - 30 0 0 61 4 6.6 69 13 18.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.453319149 0.453319149 1 1.401416481 1.401416481 1 NA NA 1 NA NA 1 5 NA 1 1 0.000259828 1 3.64E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 153335531 T A - - - - - - 38 0 0 66 4 6.1 66 11 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.418976789 0.418976789 1 1.244875278 1.244875278 1 NA NA 1 NA NA 1 5 NA 1 1 0.000351793 1 4.07E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 155825541 C A KCNAB1 ENST00000472028 r.? - - intronic 36 0 0 70 1 1.4 66 9 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.096158607 0.096158607 1 1.013790646 1.013790646 1 NA NA 1 NA NA 1 2 NA 1 1 0.295930304 1 5.59E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 156419351 C T TIPARP CCDS3177.1 r.? - - intronic 20 0 0 58 1 1.7 63 11 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.116764023 0.116764023 1 1.304510022 1.304510022 1 NA NA 1 NA NA 1 2 NA 1 1 0.252280541 1 2.37E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 160734488 G T PPM1L CCDS33886.1 r.? - - intronic 29 0 0 41 2 4.9 44 6 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.336555126 0.336555126 1 1.013790646 1.013790646 1 NA NA 1 NA NA 1 5 NA 1 1 0.018015855 1 9.37E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 161113201 C A - - - - - - 44 0 0 54 7 13 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.892901354 0.892901354 1 1.036153675 1.036153675 1 NA NA 1 NA NA 1 5 NA 1 1 1.13E-08 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 161306497 A G - - - - - - 31 0 0 43 4 9.3 47 6 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 3 3 2 2 1 1 NA NA NA NA NA NA 0.638767892 0.638767892 1 0.954155902 0.954155902 1 NA NA 1 NA NA 1 5 NA 1 1 0.000066 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 164647880 A G - - - - - - 38 0 0 30 4 13.3 39 9 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.51450677 0.51450677 1 1.028953229 1.028953229 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000154 1 3.62E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 167348895 G C WDR49 CCDS3201.1 r.? - - intronic 16 0 0 29 4 13.8 20 4 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.53384913 0.53384913 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000134 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 167348896 G T WDR49 CCDS3201.1 r.? - - intronic 16 0 0 28 4 14.3 20 4 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.553191489 0.553191489 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000116 1 0.00000284 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 173867697 G A NLGN1 CCDS3222.1 r.? - - intronic 52 0 0 33 4 12.1 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.468085106 0.468085106 1 0.953229399 0.953229399 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000228 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 174280502 T C NAALADL2 ENST00000434257 r.? - - intronic 33 0 0 41 4 9.8 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.379110251 0.379110251 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000546 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 177321901 G T - - - - - - 29 0 0 48 3 6.2 51 11 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.301845261 0.301845261 1 1.178138085 1.178138085 1 NA NA 1 NA NA 1 5 NA 1 1 0.001827434 1 1.94E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 177634615 C G - - - - - - 38 0 0 59 4 6.8 51 8 15.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.331056093 0.331056093 1 0.856331849 0.856331849 1 NA NA 1 NA NA 1 5 NA 1 1 0.00022841 1 2.05E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 180374900 C G CCDC39 CCDS46964.1 r.? - - intronic 32 0 0 45 6 13.3 42 7 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.64750677 0.64750677 1 0.910875278 0.910875278 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000108 1 1.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 185515175 C A IGF2BP2 CCDS3273.2 r.? - - intronic 33 0 0 44 4 9.1 42 10 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.443030948 0.443030948 1 1.29813363 1.29813363 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000723 1 1.24E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 188652769 A G - - - - - - 28 0 0 58 5 8.6 43 13 30.2 0 0 NA 1 1 100 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.418688588 0.418688588 1 1.647211581 0.823605791 2 4.868471954 4.868471954 1 NA NA 1 5 NA 1 1 0.0000115 0.005 3.88E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 189031541 C G TPRG1 CCDS3292.1 r.? - - intronic 36 1 2.8 51 9 17.6 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.856851064 0.856851064 1 1.270861915 1.270861915 1 NA NA 1 NA NA 1 5 NA 0.165106833 1 4.92E-12 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 195230980 G C - - - - - - 26 0 0 32 1 3.1 31 6 19.4 24 2 8.3 11 0 0 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.150922631 0.150922631 1 1.058142539 1.058142539 1 0 0 1 NA NA 1 5 NA 1 0.006413403 0.14819814 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 195508805 G C MUC4 CCDS3310.1 r.? - - intronic 30 0 0 31 1 3.2 35 7 20 76 5 6.6 91 12 13.2 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.155791103 0.155791103 1 1.090868597 1.090868597 1 0.642638298 0.642638298 1 NA NA 1 5 NA 1 0.000043 0.143917729 5.35E-14 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 3 195755969 C A TFRC ENST00000426789 r.? - - intronic 32 0 0 47 4 8.5 42 6 14.3 1 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.413820116 0.413820116 1 0.779971047 0.779971047 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000939 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 11235729 C T - - - - - - 43 0 0 34 2 5.9 37 9 24.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.169239845 0.169239845 1 0.839405345 0.839405345 1 NA NA 1 NA NA 1 2 NA 1 1 0.012612579 1 2.14E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 25608965 G C - - - - - - 23 0 0 21 3 14.3 18 6 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.410191489 0.410191489 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.000155401 1 2.75E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 35269996 G A - - - - - - 40 0 0 32 5 15.6 17 7 41.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.447481625 0.447481625 1 1.42318931 1.42318931 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000562 1 1.45E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 36342151 G T DTHD1 CCDS47039.1 r.? - - intronic 37 0 0 42 4 9.5 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.272504836 0.272504836 1 1.022485523 1.022485523 1 NA NA 1 NA NA 1 2 NA 1 1 0.0000601 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 47039946 G T GABRB1 CCDS3474.1 r.? - - intronic 36 0 0 26 0 0 35 6 17.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.641762451 1 1 0 0 1 0.358237549 NA 2 NA 0 NA 0.641762451 0 0 1 0.700434029 0.700434029 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 2.24E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 47133852 A T GABRB1 CCDS3474.1 r.? - - intronic 42 0 0 28 0 0 33 7 21.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1.641762451 1 1 0 0 1 0.358237549 NA 2 NA 0 NA 0.641762451 0 0 1 0.868374352 0.868374352 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 2.98E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 61072256 A G - - - - - - 43 0 0 24 2 8.3 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.238083172 0.238083172 1 0.459427617 0.459427617 1 NA NA 1 NA NA 1 4 NA 1 1 0.006413403 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 62068430 G T LPHN3 ENST00000512091 r.? - - intronic 25 0 0 28 9 32.1 18 6 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.920779497 0.920779497 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 1.24E-14 1 2.75E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 64240192 A C - - - - - - 32 0 0 28 3 10.7 38 7 18.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.306926499 0.306926499 1 0.635599109 0.635599109 1 NA NA 1 NA NA 1 2 NA 1 1 0.000372895 1 8.61E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 64779255 G T - - - - - - 31 1 3.2 33 7 21.2 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.608116054 0.608116054 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 0.143917729 1 2.98E-10 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 65923598 G C - - - - - - 29 0 0 24 5 20.8 20 5 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.596642166 0.596642166 1 0.863585746 0.863585746 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000123 1 4.55E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 71949558 T A - - - - - - 21 0 0 24 2 8.3 31 6 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.687659939 2 1 2 0 0 0.312340061 1 2 NA 0 NA 0.687659939 NA 0.295158947 0.429222251 0.687659939 0.864142539 0.864142539 1 NA NA 0 NA NA 1 5 NA 1 1 0.006413403 1 1.03E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 82620176 C T - - - - - - 41 0 0 30 0 0 32 7 21.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.756501114 0.756501114 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 2.36E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 103217265 G C SLC39A8 CCDS47117.1 r.? - - intronic 35 0 0 26 0 0 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 123494410 A G - - - - - - 32 0 0 29 1 3.4 26 6 23.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.097528046 0.097528046 1 0.797953229 0.797953229 1 NA NA 1 NA NA 1 1 NA 1 1 0.135292269 1 3.3E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 128886525 G C C4orf29 CCDS47131.1 r.65g>c c.? p.? 5'UTR variant 37 0 0 27 0 0 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 134134753 T G - - - - - - 38 0 0 28 0 0 35 4 11.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.3937951 0.3937951 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000289 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 139852023 A T - - - - - - 14 0 0 19 3 15.8 12 5 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.453218569 0.453218569 1 1.440461024 1.440461024 1 NA NA 1 NA NA 1 5 NA 1 1 0.000114071 1 2.4E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 153927546 C A ENSG00000235872 ENST00000449499 r.? - - intronic 31 0 0 21 4 19 19 7 36.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.545009671 0.545009671 1 1.271198218 1.271198218 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000349 1 3.73E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 157725280 C G PDGFC ENST00000502773 r.? - - intronic 46 0 0 31 0 0 36 6 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 0 1 0 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.409875278 0.409875278 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 2.68E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 167019863 T C TLL1 CCDS3811.1 r.? - - intronic 45 0 0 16 3 18.8 36 15 41.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.539272727 0.539272727 1 1.440461024 1.440461024 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000667 1 1.54E-25 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 175712560 A T GLRA3 CCDS3822.1 r.? - - intronic 33 0 0 35 3 8.6 24 11 45.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.246688588 0.246688588 1 1.582089087 1.582089087 1 NA NA 1 NA NA 1 2 NA 1 1 0.000725791 1 1.15E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 179326746 A T - - - - - - 29 0 0 22 2 9.1 36 14 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.261030948 0.261030948 1 1.343739421 1.343739421 1 NA NA 1 NA NA 1 5 NA 1 1 0.005403392 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 4 182067691 A T - - - - - - 28 0 0 24 0 0 25 5 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000000153 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 30141709 G T - - - - - - 32 0 0 29 3 10.3 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.295452611 0.295452611 1 0.715048998 0.715048998 1 NA NA 1 NA NA 1 2 NA 1 1 0.000414371 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 30761624 T A - - - - - - 36 0 0 22 1 4.5 32 9 28.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.129081238 0.129081238 1 0.970670379 0.970670379 1 NA NA 1 NA NA 1 2 NA 1 1 0.104413009 1 4.94E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 34647302 A C - - - - - - 32 0 0 28 6 21.4 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.827852998 0.827852998 1 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 5.36E-09 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 37195181 C G C5orf42 CCDS34146.1 r.? - - intronic 21 0 0 28 3 10.7 43 10 23.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.413926499 0.413926499 1 1.037861915 1.037861915 1 NA NA 1 NA NA 1 5 NA 1 1 0.000372895 1 1.61E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 41421696 G A PLCXD3 CCDS34150.1 r.? - - intronic 44 1 2.3 27 5 18.5 39 9 23.1 0 0 NA 0 0 NA 1 1 100 TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.715667311 0.715667311 1 1.028953229 1.028953229 1 NA NA 1 4.454342984 4.454342984 1 5 NA 0.197923942 1 0.00000023 1 3.62E-13 0.005 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 42090239 C A - - - - - - 28 0 0 32 3 9.4 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.363636364 0.363636364 1 0.650334076 0.650334076 1 NA NA 1 NA NA 1 5 NA 1 1 0.000556213 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 42300135 T G - - - - - - 37 0 0 39 2 5.1 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.19729207 0.19729207 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 2 NA 1 1 0.016387522 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 51170506 C T - - - - - - 29 0 0 20 4 20 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 0.953398664 0.953398664 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000284 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 56639133 G C - - - - - - 37 0 0 25 1 4 21 7 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.114738878 0.114738878 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 2 NA 1 1 0.117779757 1 8.54E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 57116634 A C - - - - - - 40 0 0 35 1 2.9 32 4 12.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.083185687 0.083185687 1 0.431792873 0.431792873 1 NA NA 1 NA NA 1 1 NA 1 1 0.16091139 1 0.0000201 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 79104257 T A - - - - - - 41 0 0 24 3 12.5 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.358558994 0.358558994 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 0.000233853 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 83607678 G C EDIL3 CCDS4062.1 r.? - - intronic 28 0 0 22 4 18.2 17 5 29.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.522061896 0.522061896 1 1.015576837 1.015576837 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000425 1 1.84E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 98568951 G T - - - - - - 38 0 0 26 0 0 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.53196882 0.53196882 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 102770847 G A - - - - - - 37 0 0 26 4 15.4 39 12 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.441744681 0.441744681 1 1.063937639 1.063937639 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000856 1 8.43E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 110016080 A C TMEM232 CCDS47253.1 r.? - - intronic 20 0 0 10 2 20 31 13 41.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 1.44736971 1.44736971 1 NA NA 1 NA NA 1 5 NA 1 1 0.001095391 1 2.32E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 116365579 A T - - - - - - 27 0 0 25 5 20 27 9 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.573694391 0.573694391 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000153 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 133028522 A T - - - - - - 33 0 0 21 1 4.8 33 8 24.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.137686654 0.137686654 1 0.835951002 0.835951002 1 NA NA 1 NA NA 1 2 NA 1 1 0.099912572 1 4.85E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 145506604 T C LARS CCDS34265.1 r.? - - intronic 26 0 0 38 1 2.6 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.100580271 0.100580271 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 2 NA 1 1 0.173434892 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 177851853 G T COL23A1 CCDS4436.1 r.? - - intronic 27 0 0 30 5 16.7 27 9 33.3 1 0 0 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.479034816 0.479034816 1 1.150296214 1.150296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000401 1 8.44E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 5 180485934 C T BTNL9 CCDS4460.2 r.? - - intronic 28 0 0 26 3 11.5 25 7 28 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.329874275 0.329874275 1 0.967216036 0.967216036 1 NA NA 1 NA NA 1 5 NA 1 1 0.000298167 1 3.47E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 14255226 A T - - - - - - 26 0 0 29 2 6.9 31 7 22.6 0 0 NA 1 0 0 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.266924565 0.266924565 1 1.006681514 1.006681514 1 0 0 1 NA NA 1 5 NA 1 1 0.009279585 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 14451829 G A - - - - - - 32 0 0 33 4 12.1 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.468085106 0.468085106 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000228 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 14518805 T A - - - - - - 43 0 0 32 6 18.8 32 5 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.727272727 0.727272727 1 0.694877506 0.694877506 1 NA NA 1 NA NA 1 5 NA 1 1 1.27E-08 1 0.000000562 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 20863060 C A CDKAL1 CCDS4546.1 r.? - - intronic 29 1 3.4 55 6 10.9 41 12 29.3 1 0 0 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.530663443 0.530663443 1 1.598122494 1.598122494 1 NA NA 1 NA NA 1 5 NA 0.135292269 1 0.000000367 1 1.69E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 25684988 A C SCGN CCDS4561.1 r.? - - intronic 30 0 0 58 13 22.4 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 1.090537718 1.090537718 1 1.292679287 1.292679287 1 NA NA 1 NA NA 1 5 NA 1 1 3.12E-18 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 30944793 T A - - - - - - 32 0 0 63 2 3.2 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.155791103 0.155791103 1 0.829060134 0.829060134 1 NA NA 1 NA NA 1 2 NA 1 1 0.03993132 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 33476202 G A - - - - - - 23 1 4.3 34 7 20.6 35 14 40 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.114674182 2.100236055 1 1 1 1 0.885325818 0.899763945 2 2 1 1 0.114674182 0.100236055 0.820528104 0.820528104 1 1.821831616 1.655855221 1.100236055 NA NA 1 NA NA 1 5 NA 0.108890944 1 3.73E-10 1 1.28E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 43082426 G A PTK7 CCDS4884.1 r.? - - intronic 32 0 0 31 2 6.5 40 10 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.303127281 0.381280344 0.795024673 1.363585746 1.363585746 1 NA NA 0 NA NA 1 5 NA 1 1 0.010558179 1 7.22E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 44296330 G A - - - - - - 33 0 0 29 2 6.9 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.321781267 0.40474375 0.795024673 0.959964365 0.959964365 1 NA NA 0 NA NA 1 5 NA 1 1 0.009279585 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 47868688 A T C6orf138 ENST00000398738 r.1889u>a c.? p.? 3'UTR variant 35 0 0 39 3 7.7 52 7 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.35908924 0.451670561 0.795024673 0.736336303 0.736336303 1 NA NA 0 NA NA 1 5 NA 1 1 0.000998458 1 8.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 48043180 T G - - - - - - 30 0 0 41 2 4.9 48 4 8.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.228511335 0.287426721 0.795024673 0.452710468 0.452710468 1 NA NA 0 NA NA 1 5 NA 1 1 0.018015855 1 0.000102016 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 48565613 T C - - - - - - 29 0 0 36 2 5.6 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.261155811 0.328487681 0.795024673 0.709064588 0.709064588 1 NA NA 0 NA NA 1 5 NA 1 1 0.014070883 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 57582897 T A - - - - - - 58 0 0 51 3 5.9 64 11 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.275146301 0.346085235 0.795024673 0.938146993 0.938146993 1 NA NA 0 NA NA 1 5 NA 1 1 0.002175924 1 2.85E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 58541448 T A - - - - - - 40 0 0 44 2 4.5 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.795024673 3 1 2 1 1 0.204975327 1 2 NA 1 NA 0.795024673 NA 0.209857348 0.209857348 1 0.981781737 0.981781737 1 NA NA 0 NA NA 1 2 NA 1 1 0.020580492 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 63484109 T G - - - - - - 40 0 0 36 6 16.7 35 8 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 2.68E-08 1 8.15E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 63913896 C A - - - - - - 28 0 0 25 3 12 30 5 16.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.464216634 0.464216634 1 0.743875278 0.743875278 1 NA NA 1 NA NA 1 5 NA 1 1 0.00026475 1 0.000000401 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 68449298 T C - - - - - - 25 0 0 38 1 2.6 47 6 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.100580271 0.100580271 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 1 NA 1 1 0.173434892 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 72811362 A T RIMS1 CCDS47449.1 r.? - - intronic 34 0 0 35 0 0 39 5 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000156 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 74804991 C T - - - - - - 23 0 0 40 0 0 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 76091708 T C FILIP1 CCDS4984.1 r.? - - intronic 31 0 0 38 0 0 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 80141547 C G - - - - - - 29 0 0 44 1 2.3 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.111974855 0.111974855 1 0.703610245 0.703610245 1 NA NA 1 NA NA 1 2 NA 1 1 0.197923942 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 81578876 G A - - - - - - 25 0 0 33 4 12.1 27 8 29.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.589085106 0.589085106 1 1.614485523 1.614485523 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000228 1 7.97E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 84292421 A C SNAP91 CCDS47455.1 r.? - - intronic 40 0 0 44 1 2.3 54 5 9.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.111974855 0.111974855 1 0.507253898 0.507253898 1 NA NA 1 NA NA 1 1 NA 1 1 0.197923942 1 0.00000806 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 90756165 G T BACH2 CCDS5026.1 r.? - - intronic 39 0 0 31 1 3.2 24 8 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.123791103 0.123791103 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 2 NA 1 1 0.143917729 1 2.68E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 96020174 C T - - - - - - 35 0 0 39 6 15.4 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.595744681 0.595744681 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 5 NA 1 1 4.43E-08 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 103514524 G T - - - - - - 32 0 0 50 2 4 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.154738878 0.154738878 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 2 NA 1 1 0.026131524 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 113152805 C A - - - - - - 34 0 0 45 6 13.3 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.51450677 0.51450677 1 0.543429844 0.543429844 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000108 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 113349668 G T - - - - - - 40 0 0 33 3 9.1 26 4 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.352030948 0.352030948 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 0.000609557 1 0.00000856 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 115445502 G T - - - - - - 19 0 0 25 5 20 33 9 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.773694391 0.773694391 1 1.216035635 1.216035635 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000153 1 6.76E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 120363514 A T - - - - - - 34 1 2.9 31 1 3.2 29 8 27.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.123791103 0.123791103 1 1.229398664 1.229398664 1 NA NA 1 NA NA 1 2 NA 0.156694864 1 0.143917729 1 1.53E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 132280575 C T - - - - - - 24 0 0 36 8 22.2 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 1.04E-11 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 134804000 G A - - - - - - 38 0 0 61 0 0 36 7 19.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.058142539 1.058142539 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 143005404 G A - - - - - - 28 0 0 48 1 2.1 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.102237911 0.102237911 1 1.199955457 1.199955457 1 NA NA 1 NA NA 1 2 NA 1 1 0.213845552 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 146031114 A T EPM2A CCDS5206.1 r.? - - intronic 46 0 0 46 1 2.2 37 11 29.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.085106383 0.085106383 1 1.322939866 1.322939866 1 NA NA 1 NA NA 1 2 NA 1 1 0.205924651 1 3.7E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 146883283 T C - - - - - - 34 0 0 32 11 34.4 26 9 34.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 1.330754352 1.330754352 1 1.541202673 1.541202673 1 NA NA 1 NA NA 1 5 NA 1 1 5.72E-18 1 5.65E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 147891409 G T SAMD5 CCDS34548.1 r.? - - downstream 30 0 0 28 1 3.6 38 9 23.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.13926499 0.13926499 1 1.055679287 1.055679287 1 NA NA 1 NA NA 1 2 NA 1 1 0.130947004 1 2.79E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 148890434 G A - - - - - - 29 0 0 31 0 0 36 14 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0 0 1 1.732739421 0.86636971 2 NA NA 1 NA NA 1 1 NA 1 1 1 1 2.09E-23 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 151769571 C T C6orf211 CCDS5233.1 r.? - - upstream 33 0 0 34 4 11.8 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.456479691 0.456479691 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000257 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 152118645 A G ESR1 CCDS5234.1 r.? - - intronic 20 0 0 44 1 2.3 34 9 26.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.088974855 0.088974855 1 1.180400891 1.180400891 1 NA NA 1 NA NA 1 1 NA 1 1 0.197923942 1 9.15E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 161523727 G A MAP3K4 CCDS34565.1 r.3918-4g>a c.3776-4G>A p.? splice region 43 0 0 33 4 12.1 44 16 36.4 94 0 0 65 8 12.3 50 27 54 TRUE TRUE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.468085106 0.468085106 1 1.621380846 0.810690423 2 0.47582205 0.47582205 1 2.405345212 1.202672606 2 5 4 1 1 0.0000228 1.53E-09 5.57E-26 7.2E-49 YES 1_1 1_1 somatic custom.pulldown.HiSeq PD9776b 6 162830673 C G PARK2 CCDS5281.1 r.? - - intronic 40 0 0 25 2 8 23 6 26.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.229477756 0.229477756 1 0.901583519 0.901583519 1 NA NA 1 NA NA 1 2 NA 1 1 0.006948068 1 1.47E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 6 167232403 C T RPS6KA2 ENST00000510118 r.? - - intronic 40 0 0 29 1 3.4 21 5 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.097528046 0.097528046 1 0.82213363 0.82213363 1 NA NA 1 NA NA 1 1 NA 1 1 0.135292269 1 5.95E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 10841654 C T - - - - - - 23 0 0 32 4 12.5 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.358558994 0.358558994 1 0.690868597 0.690868597 1 NA NA 1 NA NA 1 2 NA 1 1 0.0000201 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 11269607 C A - - - - - - 33 0 0 33 0 0 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.96030735 0.96030735 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 48702575 T G - - - - - - 40 0 0 29 6 20.7 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.593773694 0.593773694 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 6.72E-09 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 53252140 C A - - - - - - 21 0 0 23 2 8.7 16 8 50 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.24955706 0.24955706 1 1.727171492 1.727171492 1 NA NA 1 NA NA 1 5 NA 1 1 0.00589844 1 4.85E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 53593567 A G - - - - - - 24 0 0 26 7 26.9 22 6 27.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.771618956 0.771618956 1 0.943035635 0.943035635 1 NA NA 1 NA NA 1 5 NA 1 1 4.73E-11 1 1.09E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 61431430 G T - - - - - - 33 0 0 32 8 25 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 5 NA 1 1 3.69E-12 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 67516616 A T - - - - - - 29 0 0 40 3 7.5 41 6 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.290135397 0.290135397 1 0.650334076 0.650334076 1 NA NA 1 NA NA 1 2 NA 1 1 0.001075403 1 6.05E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 74326853 G C - - - - - - 23 0 0 36 0 0 31 4 12.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0 0 1 0.677017153 0.677017153 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.0000177 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 77263622 G T PTPN12 CCDS5592.1 r.? - - intronic 29 0 0 41 2 4.9 45 7 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0.222482675 0.331079939 0.671990806 0.818718418 0.818718418 1 NA NA 1 NA NA 1 5 NA 1 1 0.018015855 1 0.000000003 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 80688622 T C - - - - - - 30 0 0 33 2 6.1 50 9 18 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0.276968228 0.412160741 0.671990806 0.944675098 0.944675098 1 NA NA 1 NA NA 1 5 NA 1 1 0.011909843 1 4.07E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 82247562 T A - - - - - - 41 0 0 36 4 11.1 52 10 19.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0.503991366 0.503991366 1 1.007653438 1.007653438 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000324 1 1.28E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 86565907 T G KIAA1324L CCDS47632.1 r.? - - intronic 32 0 0 34 3 8.8 44 9 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0.399560723 0.594592544 0.671990806 1.075879973 1.075879973 1 NA NA 1 NA NA 1 5 NA 1 1 0.000666058 1 1.18E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 87315759 C T ABCB1 CCDS5608.1 r.? - - intronic 36 0 0 31 3 9.7 39 8 20.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0.440424888 0.440424888 1 1.075879973 1.075879973 1 NA NA 1 NA NA 1 5 NA 1 1 0.000505952 1 2.09E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 88626090 A C ZNF804B CCDS5613.1 r.? - - intronic 41 0 0 46 0 0 45 5 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0 0 1 0.582549644 0.582549644 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000323 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 94640503 A T PPP1R9A CCDS34683.1 r.? - - intronic 51 0 0 46 3 6.5 39 11 28.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0.295130079 0.439187674 0.671990806 1.479990987 1.479990987 1 NA NA 1 NA NA 1 5 NA 1 1 0.001615827 1 7.2E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 94720367 G A PPP1R9A CCDS34683.1 r.? - - intronic 35 0 0 38 1 2.6 50 7 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.671990806 2.793852004 1 1 1 1 0.328009194 0.206147996 2 2 1 1 0.671990806 0.793852004 0.118052032 0.118052032 1 0.734747298 0.734747298 1 NA NA 1 NA NA 1 1 NA 1 1 0.173434892 1 6.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 98670149 C A SMURF1 CCDS34690.1 r.? - - intronic 32 0 0 34 2 5.9 35 7 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1.601602236 2 1 2 0 0 0.398397764 1 2 NA 0 NA 0.601602236 NA 0.204734377 0.340315187 0.601602236 0.890868597 0.890868597 1 NA NA 0 NA NA 1 5 NA 1 1 0.012612579 1 4.65E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 103295323 T C RELN CCDS47680.1 r.? - - intronic 37 0 0 43 4 9.3 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.651677808 3.129724922 1 2 1 1 0.348322192 0.870275078 2 2 1 2 0.651677808 0.129724922 0.420373928 0.645064053 0.651677808 1.038636631 1.038636631 1 NA NA 0 NA NA 1 5 NA 1 1 0.000066 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 103318493 G A RELN CCDS47680.1 r.? - - intronic 37 0 0 35 3 8.6 43 7 16.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.651677808 3.129724922 1 2 1 1 0.348322192 0.870275078 2 2 1 2 0.651677808 0.129724922 0.388732879 0.596510845 0.651677808 0.910203069 0.910203069 1 NA NA 0 NA NA 1 5 NA 1 1 0.000725791 1 2.15E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 108970944 C T - - - - - - 33 0 0 35 4 11.4 42 6 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.512239496 0.512239496 1 0.750512448 0.750512448 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000289 1 7.02E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 115339482 G C - - - - - - 28 0 0 52 1 1.9 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.085373249 0.085373249 1 0.976191016 0.976191016 1 NA NA 1 NA NA 1 1 NA 1 1 0.229451111 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 118433168 C T - - - - - - 28 0 0 33 5 15.2 33 5 15.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.682985995 0.682985995 1 0.797747497 0.797747497 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000066 1 0.00000066 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 122743070 T A - - - - - - 42 0 0 40 0 0 49 7 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0 0 1 0.750512448 0.750512448 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 5.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 122743071 C A - - - - - - 42 0 0 41 0 0 50 7 14 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0 0 1 0.734767431 0.734767431 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 6.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 126855251 G T GRM8 CCDS5794.1 r.? - - intronic 38 0 0 30 1 3.3 41 8 19.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.148279854 0.148279854 1 1.023426065 1.023426065 1 NA NA 1 NA NA 1 5 NA 1 1 0.139615808 1 3.22E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 130016295 C T CPA1 CCDS5820.1 r.? - - upstream 26 0 0 45 2 4.4 50 6 12 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.197706472 0.31640277 0.624856958 0.629800655 0.629800655 1 NA NA 1 NA NA 1 5 NA 1 1 0.021467209 1 0.000000206 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 134023525 T C - - - - - - 29 0 0 38 2 5.3 51 7 13.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.238146432 0.381121518 0.624856958 0.719022415 0.719022415 1 NA NA 1 NA NA 1 5 NA 1 1 0.015598339 1 7.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 135804127 G A - - - - - - 41 0 0 30 3 10 46 6 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.449332891 0.449332891 1 0.682284043 0.682284043 1 NA NA 1 NA NA 1 5 NA 1 1 0.000458697 1 0.000000123 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 139377717 T A HIPK2 ENST00000406875 r.? - - intronic 37 0 0 63 4 6.3 42 4 9.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.624856958 2.79399581 1 1 1 1 0.375143042 0.20600419 2 2 1 1 0.624856958 0.79399581 0.283079721 0.453031238 0.624856958 0.498592185 0.498592185 1 NA NA 1 NA NA 1 5 NA 1 1 0.000294233 1 0.0000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 141166098 C A ENSG00000230744 ENST00000437284 r.? - - intronic 34 0 0 45 3 6.7 61 10 16.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 3.665370368 2 2 1 1 0.607643215 0.334629632 3 3 1 1 0.392356785 0.665370368 0.352475525 0.898354608 0.392356785 1.00363299 1.00363299 1 NA NA 1 NA NA 1 5 NA 1 1 0.001516071 1 6.98E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 141192238 C A - - - - - - 34 0 0 43 2 4.7 48 7 14.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3.392356785 3.665370368 2 2 1 1 0.607643215 0.334629632 3 3 1 1 0.392356785 0.665370368 0.247258951 0.630189053 0.392356785 0.893478149 0.893478149 1 NA NA 1 NA NA 1 5 NA 1 1 0.019709573 1 4.81E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 145094237 G T - - - - - - 37 0 0 34 0 0 57 10 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0 0 1 0.895753843 0.895753843 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 3.4E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 148558575 T A EZH2 CCDS5891.1 r.? - - intronic 28 0 0 38 5 13.2 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.547886058 0.547886058 1 0.895753843 0.895753843 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000137 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 150554213 C T ABP1 CCDS43679.1 r.1239c>u c.655C>T p.L219F missense 22 0 0 59 4 6.8 34 5 14.7 192 0 0 230 14 6.1 2 0 0 TRUE TRUE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.282244333 1.000227971 0.282180004 0.752433228 0.752433228 1 0.253189769 0.897263327 0.282180004 0 0 1 5 5 1 1 0.00022841 1.98E-11 0.000000771 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 151004417 G T - - - - - - 35 0 0 48 3 6.2 45 6 13.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2.664250407 1 1 1 1 0.717819996 0.335749593 2 2 1 1 0.282180004 0.664250407 0.257340421 0.911972562 0.282180004 0.680772921 0.680772921 1 NA NA 1 NA NA 1 5 NA 1 1 0.001827434 1 0.000000108 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 7 153474738 A T - - - - - - 13 0 0 12 1 8.3 14 6 42.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.282180004 2 1 1 1 1 0.717819996 1 2 NA 1 NA 0.282180004 NA 0.344504113 0.344504113 1 1.91091314 1.91091314 1 NA NA 1 NA NA 1 5 NA 1 1 0.058377193 1 4.53E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 1548501 C T DLGAP2 CCDS47760.1 r.? - - intronic 28 0 0 21 5 23.8 36 5 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.682696325 0.682696325 1 0.480153675 0.480153675 1 NA NA 1 NA NA 1 5 NA 1 1 5.95E-08 1 0.00000104 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 4890968 C A - - - - - - 22 0 0 27 8 29.6 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.849067698 0.849067698 1 0.628690423 0.628690423 1 NA NA 1 NA NA 1 5 NA 1 1 7.97E-13 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 5955146 T C - - - - - - 22 0 0 20 2 10 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.286847195 0.286847195 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 0.004473894 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 21230456 T A - - - - - - 27 0 0 30 9 30 24 9 37.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.860541586 0.860541586 1 1.295378619 1.295378619 1 NA NA 1 NA NA 1 5 NA 1 1 2.54E-14 1 2.39E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 51902513 T A - - - - - - 31 0 0 39 9 23.1 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 1.080150607 1.080150607 1 1.227227171 1.227227171 1 NA NA 0 NA NA 1 5 NA 1 1 3.62E-13 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 52595555 T C PXDNL CCDS47855.1 r.? - - intronic 23 0 0 36 0 0 24 4 16.7 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0 NA 0 0.910875278 0.910875278 1 NA NA 0 NA NA 1 NA NA 1 1 1 1 0.00000613 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 54809410 C T RGS20 CCDS6155.1 r.? - - intronic 44 0 0 46 1 2.2 53 8 15.1 0 0 NA 0 0 NA 0 0 NA FALSE FALSE 2.807504699 3 1 2 1 1 0.192495301 1 2 NA 1 NA 0.807504699 NA 0.102871486 NA 0 0.823605791 0.823605791 1 NA NA 0 NA NA 1 NA NA 1 1 0.205924651 1 2.83E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 56607266 C T - 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- - - - - 26 0 0 42 2 4.8 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.281686654 0.281686654 1 1.03914922 1.03914922 1 NA NA 1 NA NA 1 5 NA 1 1 0.018854633 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 127120467 C G - - - - - - 44 0 0 58 1 1.7 38 4 10.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.099764023 0.099764023 1 0.677706013 0.677706013 1 NA NA 1 NA NA 1 1 NA 1 1 0.252280541 1 0.0000403 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 128238723 G T - - - - - - 27 0 0 68 3 4.4 71 11 15.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.258212766 0.258212766 1 1.000423163 1.000423163 1 NA NA 1 NA NA 1 2 NA 1 1 0.004916956 1 9.49E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 129387617 C T - - - - - - 42 0 0 63 3 4.8 51 7 13.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.281686654 0.281686654 1 0.884244989 0.884244989 1 NA NA 1 NA NA 1 2 NA 1 1 0.003968795 1 7.46E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 129692570 G C - - - - - - 25 0 0 40 1 2.5 63 15 23.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.146711799 0.146711799 1 1.53613363 0.768066815 2 NA NA 1 NA NA 1 2 NA 1 1 0.181679879 1 2.97E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 130609361 C G AC013300.1 ENST00000446592 r.? - - intronic 27 0 0 56 1 1.8 71 5 7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.105632495 0.105632495 1 0.451804009 0.451804009 1 NA NA 1 NA NA 1 1 NA 1 1 0.244746891 1 0.0000309 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 131378963 T C ASAP1 CCDS6362.1 r.? - - intronic 19 0 0 50 4 8 52 13 25 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 4 4 0 0 1 1 NA NA NA NA NA NA 0.469477756 0.469477756 1 1.613585746 0.806792873 2 NA NA 1 NA NA 1 5 NA 1 1 0.000119787 1 6.47E-19 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 134036406 C A TG CCDS34944.1 r.? - - intronic 26 0 0 66 3 4.5 72 10 13.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.596100091 7 4 5 2 2 0.403899909 1 5 NA 2 NA 0.596100091 NA 0.380905742 0.638996282 0.596100091 1.314153675 1.314153675 1 NA NA 0 NA NA 1 5 NA 1 1 0.004522888 1 3.95E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 134036407 T A TG CCDS34944.1 r.? - - intronic 26 0 0 66 3 4.5 73 10 13.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.596100091 7 4 5 2 2 0.403899909 1 5 NA 2 NA 0.596100091 NA 0.380905742 0.638996282 0.596100091 1.295244989 1.295244989 1 NA NA 0 NA NA 1 5 NA 1 1 0.004522888 1 4.56E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 135446006 C G - - - - - - 33 0 0 77 4 5.2 56 10 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.596100091 7 4 5 2 2 0.403899909 1 5 NA 2 NA 0.596100091 NA 0.440157746 0.440157746 1 1.692327394 1.692327394 1 NA NA 0 NA NA 1 5 NA 1 1 0.000632383 1 2.82E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 135494193 C T ZFAT CCDS47924.1 r.? - - intronic 23 0 0 82 4 4.9 77 7 9.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.596100091 7 4 5 2 2 0.403899909 1 5 NA 2 NA 0.596100091 NA 0.41476403 0.695795952 0.596100091 0.860345212 0.860345212 1 NA NA 0 NA NA 1 5 NA 1 1 0.000801325 1 0.000000138 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 136153307 C G - - - - - - 26 0 0 75 4 5.3 77 6 7.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.596100091 7 4 5 2 2 0.403899909 1 5 NA 2 NA 0.596100091 NA 0.448622318 0.448622318 1 0.737438753 0.737438753 1 NA NA 0 NA NA 1 5 NA 1 1 0.000572493 1 0.00000273 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 136684692 C T - - - - - - 32 0 0 96 4 4.2 66 7 10.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.596100091 7 4 5 2 2 0.403899909 1 5 NA 2 NA 0.596100091 NA 0.355512026 0.59639653 0.596100091 1.002160356 1.002160356 1 NA NA 0 NA NA 1 5 NA 1 1 0.001440082 1 0.000000047 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 137387817 C A - - - - - - 34 0 0 68 5 7.4 62 6 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.596100091 7 4 5 2 2 0.403899909 1 5 NA 2 NA 0.596100091 NA 0.626378331 0.626378331 1 0.917071269 0.917071269 1 NA NA 0 NA NA 1 5 NA 1 1 0.0000251 1 0.000000756 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 138831259 T A - - - - - - 43 0 0 86 5 5.8 66 9 13.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.464355288 0.464355288 1 1.149790646 1.149790646 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000777 1 5.59E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 139176451 T C FAM135B CCDS6375.2 r.? - - intronic 30 0 0 75 4 5.3 58 8 13.8 0 0 NA 2 0 0 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.42432466 0.42432466 1 1.166699332 1.166699332 1 0 0 1 NA NA 1 5 NA 1 1 0.000572493 1 5.99E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 139573089 C A - - - - - - 35 0 0 69 3 4.3 64 10 15.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.344263403 0.344263403 1 1.318877506 1.318877506 1 NA NA 1 NA NA 1 5 NA 1 1 0.005121501 1 1.16E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 140073595 C A - - - - - - 36 0 0 81 4 4.9 58 8 13.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.392300157 0.392300157 1 1.166699332 1.166699332 1 NA NA 1 NA NA 0 5 NA 1 1 0.000765256 1 5.99E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 142603562 G T - - - - - - 33 0 0 64 4 6.2 62 6 9.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.49637979 0.49637979 1 0.820071269 0.820071269 1 NA NA 1 NA NA 0 5 NA 1 1 0.000312605 1 0.000000756 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 143219943 G T - - - - - - 23 0 0 89 0 0 69 9 13 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0 0 1 1.099064588 1.099064588 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 8.45E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 143783566 G A LY6K CCDS6385.1 r.? - - intronic 38 0 0 69 5 7.2 66 7 10.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0.576441047 0.576441047 1 0.896160356 0.896160356 1 NA NA 1 NA NA 0 5 NA 1 1 0.0000269 1 0.000000047 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 143953663 C A CYP11B1 CCDS6392.1 r.? - - downstream 34 0 0 75 0 0 58 6 10.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 6.137653698 6 4 4 2 2 0.862346302 1 4 NA 3 NA 0.137653698 NA 0 0 1 0.870797327 0.870797327 1 NA NA 1 NA NA 0 1 NA 1 1 1 1 0.000000506 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 144920751 C T NRBP2 CCDS34959.1 r.? - - intronic 33 0 0 76 4 5.3 52 7 13.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 4 4 1 1 1 1 NA NA NA NA NA NA 0.364029014 0.364029014 1 1.006336303 1.006336303 1 NA NA 1 NA NA 1 5 NA 1 1 0.00060191 1 8.58E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 8 145930923 C A - - - - - - 24 0 0 63 1 1.6 59 6 10.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 5 5 4 4 1 1 1 1 NA NA NA NA NA NA 0.109895551 0.109895551 1 0.760342984 0.760342984 1 NA NA 1 NA NA 1 2 NA 1 1 0.27078753 1 0.000000561 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 10672446 G T - - - - - - 33 0 0 28 7 25 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.717117988 0.717117988 1 0.987942094 0.987942094 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 24982761 G A - - - - - - 41 0 0 27 0 0 28 6 21.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0 0 1 0.739229399 0.739229399 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 5.36E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 27614590 C A - - - - - - 28 0 0 18 2 11.1 32 6 18.8 0 0 NA 2 2 100 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.318400387 0.318400387 1 0.649416481 0.649416481 1 2.868471954 2.868471954 1 NA NA 1 5 NA 1 1 0.003626632 0.000025 1.27E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 36585336 G A MELK CCDS6606.1 r.? - - intronic 18 0 0 18 4 22.2 26 7 26.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.198218263 1.198218263 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000181 1 4.73E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 38454254 G T - - - - - - 31 0 0 43 5 11.6 44 8 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.448742747 0.448742747 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000257 1 5.9E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 71257122 A G - - - - - - 26 0 0 49 7 14.3 53 8 15.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3 2 2 1 1 1 1 NA NA NA NA NA NA 0.696191489 0.696191489 1 0.823605791 0.823605791 1 NA NA 1 NA NA 1 5 NA 1 1 5.58E-09 1 2.83E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 77161052 A T RORB CCDS6646.1 r.? - - intronic 40 0 0 39 2 5.1 39 7 17.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.19729207 0.19729207 1 0.797327394 0.797327394 1 NA NA 1 NA NA 1 2 NA 1 1 0.016387522 1 1.04E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 79458236 G T PRUNE2 CCDS47982.1 r.? - - intronic 31 0 0 22 2 9.1 40 8 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.352030948 0.352030948 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 0.005403392 1 2.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 83752038 C A - - - - - - 38 0 0 48 6 12.5 39 6 15.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 0.68596882 0.68596882 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000016 1 4.43E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 85837655 C A - - - - - - 25 0 0 24 4 16.7 40 9 22.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.646034816 0.646034816 1 1.002227171 1.002227171 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000613 1 4.64E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 87383944 G A NTRK2 CCDS35051.1 r.? - - intronic 36 0 0 41 7 17.1 23 9 39.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.661508704 0.661508704 1 1.741648107 1.741648107 1 NA NA 1 NA NA 1 5 NA 1 1 1.51E-09 1 1.5E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 87607751 C A NTRK2 CCDS6671.1 r.? - - intronic 27 0 0 32 2 6.2 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.239845261 0.239845261 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 2 NA 1 1 0.011224977 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 92809987 C A - - - - - - 34 0 0 45 0 0 36 10 27.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.23830735 1.23830735 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 2.21E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 94484850 G A ROR2 CCDS6691.1 r.? - - downstream 26 0 0 37 4 10.8 36 7 19.4 320 2 0.6 306 63 20.6 2 0 0 TRUE TRUE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.417794971 0.417794971 1 0.864142539 0.864142539 1 0.796905222 0.796905222 1 0 0 1 5 5 1 0.475554794 0.0000362 6.84E-80 5.74E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 105139475 C T - - - - - - 30 0 0 50 4 8 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.389477756 0.389477756 1 0.891095076 0.891095076 1 NA NA 1 NA NA 0 5 NA 1 1 0.000119787 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 106121865 C T - - - - - - 36 0 0 57 4 7 46 8 17.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 3 3.150028566 2 2 1 1 1 0.849971434 NA 2 NA 2 NA 0.150028566 0.340793037 0.340793037 1 0.97516065 0.97516065 1 NA NA 1 NA NA 0 5 NA 1 1 0.000199821 1 8.61E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 110362604 C T - - - - - - 27 0 0 70 4 5.7 64 11 17.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.334502901 0.334502901 1 1.110146993 1.110146993 1 NA NA 1 NA NA 1 5 NA 1 1 0.000440508 1 2.85E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 111469640 C A - - - - - - 36 0 0 62 4 6.5 56 9 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.381450677 0.381450677 1 1.03914922 1.03914922 1 NA NA 1 NA NA 1 5 NA 1 1 0.000276647 1 1.2E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 114682080 A C UGCG CCDS6782.1 r.? - - intronic 28 0 0 46 2 4.3 59 5 8.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.252344294 0.252344294 1 0.548619154 0.548619154 1 NA NA 1 NA NA 1 2 NA 1 1 0.022369545 1 0.0000125 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 117586485 C G - - - - - - 38 0 0 66 3 4.5 58 11 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.264081238 0.264081238 1 1.226325167 1.226325167 1 NA NA 1 NA NA 1 5 NA 1 1 0.004522888 1 8.96E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 119389172 T A ASTN2 CCDS48009.1 r.? - - intronic 41 0 0 50 4 8 68 6 8.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.469477756 0.469477756 1 0.567982183 0.567982183 1 NA NA 1 NA NA 1 5 NA 1 1 0.000119787 1 0.00000131 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 120339591 G A - - - - - - 27 0 0 63 3 4.8 54 6 11.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 4 4 2 2 2 2 1 1 NA NA NA NA NA NA 0.281686654 0.281686654 1 0.716432071 0.716432071 1 NA NA 1 NA NA 1 2 NA 1 1 0.003968795 1 0.000000329 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b 9 122199360 A G - - - - - - 32 0 0 38 6 15.8 32 10 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 2 2 0 0 1 1 NA NA NA NA NA NA 0.611218569 0.611218569 1 1.389755011 1.389755011 1 NA NA 1 NA NA 1 5 NA 1 1 3.76E-08 1 5.7E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 7131905 T C - - - - - - 27 0 0 41 10 24.4 31 7 22.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.943907157 0.943907157 1 1.006681514 1.006681514 1 NA NA 1 NA NA 1 5 NA 1 1 9.51E-15 1 1.85E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 9215341 T A - - - - - - 21 0 0 28 2 7.1 47 9 19.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.274661509 0.274661509 1 0.85077951 0.85077951 1 NA NA 1 NA NA 1 5 NA 1 1 0.008668191 1 2.24E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 9825376 T A SHROOM2 CCDS14135.1 r.? - - intronic 47 0 0 34 0 0 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 10005769 T G WWC3 CCDS14136.1 r.? - - intronic 20 0 0 40 4 10 38 6 15.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.386847195 0.386847195 1 0.703786192 0.703786192 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000495 1 3.76E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 11605948 C G ARHGAP6 CCDS14140.1 r.? - - intronic 44 0 0 44 2 4.5 43 8 18.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.174081238 0.174081238 1 0.828507795 0.828507795 1 NA NA 1 NA NA 1 2 NA 1 1 0.020580492 1 4.85E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 14187939 A G - - - - - - 43 0 0 38 0 0 41 5 12.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.543429844 0.543429844 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000202 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 14348023 A G - - - - - - 33 0 0 37 0 0 42 8 19 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.846325167 0.846325167 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 3.96E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 21883631 T C MBTPS2 CCDS14201.1 r.? - - intronic 49 0 0 38 8 21.1 37 8 21.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.816247582 0.816247582 1 0.962138085 0.962138085 1 NA NA 1 NA NA 1 5 NA 1 1 1.67E-11 1 1.33E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 22993622 G C - - - - - - 39 0 0 34 1 2.9 47 6 12.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.112185687 0.112185687 1 0.570155902 0.570155902 1 NA NA 1 NA NA 1 1 NA 1 1 0.156694864 1 0.000000141 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 24113973 T C - - - - - - 35 0 0 41 3 7.3 42 12 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.282398453 0.282398453 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 0.001155993 1 2.35E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 24807579 G A POLA1 CCDS14214.1 r.? - - intronic 28 0 0 40 0 0 40 7 17.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.779510022 0.779510022 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1.26E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 27278468 C T - - - - - - 32 0 0 47 4 8.5 33 6 18.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.328820116 0.328820116 1 0.810690423 0.810690423 1 NA NA 1 NA NA 1 2 NA 1 1 0.0000939 1 1.54E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 27500228 T G - - - - - - 44 0 0 37 3 8.1 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.313346228 0.313346228 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.000855237 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 28382993 T G - - - - - - 34 0 0 22 8 36.4 27 10 37 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.408123791 1.408123791 1 1.648106904 1.648106904 1 NA NA 1 NA NA 1 5 NA 1 1 1.17E-13 1 7.62E-17 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 30482083 T C - - - - - - 32 0 0 36 3 8.3 40 6 15 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.321083172 0.321083172 1 0.668151448 0.668151448 1 NA NA 1 NA NA 1 5 NA 1 1 0.000788827 1 5.18E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 30657733 G A - - - - - - 23 0 0 38 4 10.5 23 7 30.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.406189555 0.406189555 1 1.354120267 1.354120267 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000403 1 1.79E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 32547203 T A DMD CCDS14233.1 r.? - - intronic 27 0 0 38 5 13.2 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.510638298 0.510638298 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 0.00000137 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 34605762 T A - - - - - - 41 0 0 51 0 0 47 5 10.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.472160356 0.472160356 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000402 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 35298129 C A - - - - - - 36 0 0 46 3 6.5 53 10 18.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.251450677 0.251450677 1 0.841870824 0.841870824 1 NA NA 1 NA NA 1 2 NA 1 1 0.001615827 1 1.57E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 35810576 C G - - - - - - 36 0 0 53 0 0 48 5 10.4 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.46325167 0.46325167 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 0.00000447 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 38224161 G A OTC CCDS14247.1 r.? - - intronic 33 0 0 51 0 0 44 7 15.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.708240535 0.708240535 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 48447575 C T - - - - - - 25 0 0 44 10 22.7 29 6 20.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.878143133 0.878143133 1 0.922048998 0.922048998 1 NA NA 1 NA NA 1 5 NA 1 1 2.08E-14 1 6.72E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 50429324 C T SHROOM4 CCDS35277.1 r.? - - intronic 31 0 0 33 2 6.1 26 8 30.8 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.235976789 0.235976789 1 1.371937639 1.371937639 1 NA NA 1 NA NA 1 5 NA 1 1 0.011909843 1 5.63E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 51319591 T A - - - - - - 42 0 0 27 6 22.2 31 12 38.7 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.858800774 0.858800774 1 1.723830735 1.723830735 1 NA NA 1 NA NA 1 5 NA 1 1 4.23E-09 1 3.16E-20 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 57908490 G T - - - - - - 24 0 0 27 3 11.1 38 13 34.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.429400387 0.429400387 1 1.523385301 1.523385301 1 NA NA 1 NA NA 1 5 NA 1 1 0.000334187 1 5.88E-21 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 64527509 C A - - - - - - 39 0 0 35 1 2.9 47 8 17 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.112185687 0.112185687 1 0.757238307 0.757238307 1 NA NA 1 NA NA 1 2 NA 1 1 0.16091139 1 1.03E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 65878109 G C - - - - - - 35 0 0 42 1 2.4 45 9 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.092843327 0.092843327 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 1 NA 1 1 0.189842622 1 1.47E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 66789288 G T AR CCDS14387.1 r.? - - intronic 33 0 0 29 4 13.8 21 6 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.53384913 0.53384913 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000134 1 7.95E-10 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 68116777 G A - - - - - - 35 0 0 37 2 5.4 33 11 33.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.208897485 0.208897485 1 1.483296214 1.483296214 1 NA NA 1 NA NA 1 5 NA 1 1 0.014826063 1 8.54E-18 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 69841997 G T TEX11 CCDS35323.1 r.? - - intronic 39 0 0 35 3 8.6 48 11 22.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.332688588 0.332688588 1 1.020044543 1.020044543 1 NA NA 1 NA NA 1 5 NA 1 1 0.000725791 1 9.31E-16 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 70358733 A T MED12 CCDS43970.1 r.? - - intronic 34 0 0 38 1 2.6 25 4 16 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.100580271 0.100580271 1 0.712694878 0.712694878 1 NA NA 1 NA NA 1 1 NA 1 1 0.173434892 1 0.00000727 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 70706361 C T TAF1 ENST00000437147 r.? - - intronic 28 0 0 38 9 23.7 29 9 31 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.916827853 0.916827853 1 1.380846325 1.380846325 1 NA NA 1 NA NA 1 5 NA 1 1 2.79E-13 1 1.79E-14 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 70896909 C T - - - - - - 35 0 0 32 7 21.9 25 6 24 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.847195358 0.847195358 1 1.069042316 1.069042316 1 NA NA 1 NA NA 1 5 NA 1 1 2.36E-10 1 2.55E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 71115384 C T - - - - - - 28 0 0 32 4 12.5 34 8 23.5 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.483558994 0.483558994 1 1.046770601 1.046770601 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000201 1 6.32E-12 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 82598764 C T - - - - - - 22 1 4.5 11 4 36.4 14 4 28.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 1.408123791 1.408123791 1 1.273942094 1.273942094 1 NA NA 1 NA NA 1 5 NA 0.104413009 1 0.000000201 1 0.000000601 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 86656771 G T - - - - - - 42 0 0 43 8 18.6 43 14 32.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.719535783 0.719535783 1 1.452115813 1.452115813 1 NA NA 1 NA NA 1 5 NA 1 1 4.85E-11 1 4.18E-22 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 88090414 C T - - - - - - 41 0 0 46 4 8.7 37 10 27 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.33655706 0.33655706 1 1.202672606 1.202672606 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000862 1 3.01E-15 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 89977932 C A - - - - - - 38 0 0 32 3 9.4 41 9 22 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.363636364 0.363636364 1 0.979955457 0.979955457 1 NA NA 1 NA NA 1 5 NA 1 1 0.000556213 1 5.92E-13 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 90772539 C T - - - - - - 35 0 0 31 4 12.9 31 5 16.1 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.499032882 0.499032882 1 0.71714922 0.71714922 1 NA NA 1 NA NA 1 5 NA 1 1 0.0000177 1 0.000000476 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 91571301 C T PCDH11X CCDS14461.1 r.? - - intronic 36 0 0 38 0 0 36 8 22.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0 0 1 0.988864143 0.988864143 1 NA NA 1 NA NA 1 1 NA 1 1 1 1 1.04E-11 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 93140163 G A - - - - - - 44 0 0 29 1 3.4 35 5 14.3 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.131528046 0.131528046 1 0.636971047 0.636971047 1 NA NA 1 NA NA 1 2 NA 1 1 0.135292269 1 0.000000895 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 95813602 T A - - - - - - 36 0 0 28 7 25 30 6 20 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.967117988 0.967117988 1 0.890868597 0.890868597 1 NA NA 1 NA NA 1 5 NA 1 1 8.44E-11 1 8.37E-09 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 98779016 A C - - - - - - 52 0 0 41 1 2.4 34 6 17.6 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 2 2 1 1 1 1 1 1 NA NA NA NA NA NA 0.092843327 0.092843327 1 0.783964365 0.783964365 1 NA NA 1 NA NA 1 1 NA 1 1 0.18577148 1 1.86E-08 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 126925619 C A - - - - - - 23 0 0 20 3 15 16 5 31.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.430270793 0.430270793 1 1.077755011 1.077755011 1 NA NA 1 NA NA 1 5 NA 1 1 0.0001337 1 0.000000013 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 137463958 A C - - - - - - 35 0 0 30 8 26.7 31 14 45.2 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.765882012 0.765882012 1 1.561363029 1.561363029 1 NA NA 1 NA NA 1 5 NA 1 1 2.07E-12 1 1.49E-24 1 NO inad_validation_depth inad_validation_depth NA NA PD9776b X 149530189 G C MAMLD1 CCDS14693.2 r.? - - upstream 22 0 0 29 5 17.2 18 7 38.9 0 0 NA 0 0 NA 0 0 NA TRUE FALSE 1 1 1 1 0 0 1 1 NA NA NA NA NA NA 0.493377176 0.493377176 1 1.343739421 1.343739421 1 NA NA 1 NA NA 1 5 NA 1 1 0.000000336 1 2.37E-12 1 NO inad_validation_depth inad_validation_depth NA NA