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test.input.exonic_variant_function
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line1 nonsynonymous SNV ZNF565:NM_001042474:exon5:c.A1154G:p.H385R,ZNF565:NM_152477:exon5:c.A1154G:p.H385R, 19 36673714 36673714 T C
line2 nonsynonymous SNV NRIP1:NM_003489:exon4:c.A2165C:p.K722T, 21 16338349 16338349 T G
line3 stopgain SNV LRP1:NM_002332:exon41:c.C6600A:p.Y2200X, 12 57579450 57579450 C A
line4 nonsynonymous SNV CCDC137:NM_199287:exon3:c.A374G:p.Y125C, 17 79637360 79637360 A G
line5 stopgain SNV KPNA1:NM_002264:exon13:c.G1342T:p.E448X, 3 122146472 122146472 C A
line6 stopgain SNV ZNF480:NM_144684:exon5:c.C1498T:p.R500X, 19 52826001 52826001 C T
line7 nonsynonymous SNV EIF5:NM_001969:exon10:c.A1051G:p.I351V,EIF5:NM_183004:exon9:c.A1051G:p.I351V, 14 103806120 103806120 A G
line8 stopgain SNV ALS2CL:NM_001190707:exon20:c.C2197T:p.R733X,ALS2CL:NM_182775:exon5:c.C238T:p.R80X,ALS2CL:NM_147129:exon20:c.C2197T:p.R733X, 3 46717166 46717166 G A
line9 nonsynonymous SNV CHD4:NM_001273:exon12:c.C1726T:p.R576W, 12 6707226 6707226 G A
line10 nonsynonymous SNV KDM2B:NM_001005366:exon16:c.G2140A:p.G714S,KDM2B:NM_032590:exon16:c.G2233A:p.G745S, 12 121882033 121882033 C T
line11 nonsynonymous SNV LAMA1:NM_005559:exon46:c.A6559G:p.T2187A, 18 6974966 6974966 T C
line12 nonsynonymous SNV CASP4:NM_001225:exon2:c.A256G:p.K86E,CASP4:NM_033306:exon2:c.A88G:p.K30E, 11 104825480 104825480 T C
line13 nonsynonymous SNV SDF4:NM_016547:exon6:c.G883A:p.D295N,SDF4:NM_016176:exon6:c.G883A:p.D295N, 1 1153867 1153867 C T
line14 nonsynonymous SNV PIK3CB:NM_006219:exon3:c.A478G:p.I160V, 3 138461543 138461543 T C
line15 nonsynonymous SNV SBNO1:NM_018183:exon18:c.C2655G:p.N885K,SBNO1:NM_001167856:exon18:c.C2658G:p.N886K, 12 123804988 123804988 G C
line16 nonsynonymous SNV GIF:NM_005142:exon7:c.G880T:p.V294L, 11 59603474 59603474 G A
line17 nonsynonymous SNV PLCL2:NM_015184:exon2:c.T37A:p.C13S, 3 17051253 17051253 T A
line19 synonymous SNV TPSAB1:NM_003294:exon3:c.A216G:p.A72A, 16 1291308 1291308 A G
line20 nonsynonymous SNV VN1R4:NM_173857:exon1:c.C203A:p.A68D, 19 53770716 53770716 C T
line21 nonsynonymous SNV MAGEC1:NM_005462:exon4:c.C767G:p.T256S, X 140993957 140993957 C G
line22 synonymous SNV RFX3:NM_134428:exon14:c.G1465G:p.V489V,RFX3:NM_002919:exon14:c.G1465G:p.V489V, 9 3263075 3263075 G C
line23 frameshift substitution SZT2:NM_015284:exon21:c.2998_2998delinsCCA, 1 43891777 43891777 C CCA
line24 nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.C94A:p.L32M, 1 144931615 144931615 C T
line25 synonymous SNV HLA-C:NM_002117:exon3:c.G572G:p.W191W,HLA-C:NM_001243042:exon3:c.G572G:p.W191W, 6 31238897 31238897 G C
line26 nonsynonymous SNV TEKT5:NM_144674:exon3:c.T710G:p.I237S, 16 10783119 10783119 T C
line27 nonsynonymous SNV WDR11:NM_018117:exon26:c.G3242A:p.R1081H, 10 122664879 122664879 G A
line28 synonymous SNV SEC24B:NM_006323:exon2:c.C531T:p.P177P,SEC24B:NM_001042734:exon2:c.C531T:p.P177P, 4 110384454 110384454 C T
line29 nonsynonymous SNV UBR5:NM_015902:exon38:c.C5150T:p.A1717V, 8 103298653 103298653 C A
line30 nonsynonymous SNV PPP1R14D:NM_001130143:exon5:c.G593T:p.G198V, 15 41107855 41107855 G A
line31 nonsynonymous SNV LCT:NM_002299:exon15:c.T5218G:p.Y1740D, 2 136548345 136548345 T C
line32 nonsynonymous SNV THBS1:NM_003246:exon12:c.G1813A:p.E605K, 15 39881442 39881442 G A
line33 stopgain SNV DPYD:NM_000110:exon13:c.G1615T:p.G539X, 1 97981407 97981407 G A
line35 nonsynonymous SNV TEP1:NM_007110:exon2:c.G364T:p.V122L, 14 20876235 20876235 G A
line36 synonymous SNV KCNJ18:NM_001194958:exon3:c.T531A:p.I177I,KCNJ12:NM_021012:exon3:c.T531A:p.I177I, 17 21319185 21319185 T A
line38 nonsynonymous SNV OR4C46:NM_001004703:exon1:c.G604A:p.G202R, 11 51515885 51515885 G A
line39 frameshift substitution HIST1H1E:NM_005321:exon1:c.555_557C, 6 26157173 26157175 CAA C
line40 nonsynonymous SNV PAG1:NM_018440:exon4:c.G85T:p.V29F, 8 81905378 81905378 G A
line41 stopgain SNV IRS1:NM_005544:exon1:c.G2155T:p.E719X, 2 227661300 227661300 G A
line42 synonymous SNV COG1:NM_018714:exon5:c.C1065A:p.I355I, 17 71196155 71196155 C A
line44 nonframeshift substitution SPATA5:NM_145207:exon5:c.982_985T, 4 123855728 123855731 TCAA T
line45 nonsynonymous SNV UGT1A3:NM_019093:exon1:c.T94A:p.L32M, 2 234637866 234637866 T A
line46 nonsynonymous SNV NPRL2:NM_006545:exon7:c.G691T:p.G231C, 3 50385987 50385987 G A
line47 nonsynonymous SNV FAM3D:NM_138805:exon8:c.A440C:p.Y147S, 3 58622886 58622886 A G
line48 nonframeshift substitution TAF7L:NM_024885:exon10:c.1047_1053T,TAF7L:NM_001168474:exon10:c.789_795T, X 100531413 100531419 GGATGAA A
line49 frameshift substitution RB1CC1:NM_001083617:exon15:c.3682_3684T,RB1CC1:NM_014781:exon15:c.3682_3684T, 8 53568705 53568707 GAA A
line50 nonsynonymous SNV CSPG4:NM_001897:exon3:c.C1220A:p.P407Q, 15 75982186 75982186 C T
line51 frameshift substitution DDHD2:NM_015214:exon11:c.1335_1340A,DDHD2:NM_001164232:exon11:c.1335_1340A, 8 38107312 38107317 AAACTC A
line52 nonsynonymous SNV INTS10:NM_018142:exon10:c.G1251C:p.R417S, 8 19688027 19688027 G C
line54 synonymous SNV KLF12:NM_007249:exon7:c.C995C:p.S332S, 13 74289537 74289537 C G
line55 nonsynonymous SNV TRRAP:NM_001244580:exon11:c.A883T:p.I295F,TRRAP:NM_003496:exon11:c.A883T:p.I295F, 7 98498329 98498329 A T
line56 unknown UNKNOWN 15 99673042 99673042 G A
line57 nonsynonymous SNV TUB:NM_003320:exon2:c.G170A:p.R57K, 11 8061206 8061206 G A
line58 stopgain SNV PHF23:NM_024297:exon4:c.G760T:p.E254X, 17 7139486 7139486 G A
line59 nonsynonymous SNV AHNAK2:NM_138420:exon7:c.T9650G:p.L3217R, 14 105412138 105412138 T C
line60 nonsynonymous SNV ADCY7:NM_001114:exon24:c.A3058G:p.S1020G, 16 50349011 50349011 A G
line61 synonymous SNV PITPNM1:NM_004910:exon6:c.C649A:p.R217R,PITPNM1:NM_001130848:exon6:c.C649A:p.R217R, 11 67267884 67267884 C T
line62 nonsynonymous SNV GPR153:NM_207370:exon2:c.C305A:p.T102N, 1 6314661 6314661 C T
line63 nonsynonymous SNV RGS12:NM_198229:exon15:c.C3359T:p.P1120L,RGS12:NM_002926:exon15:c.C3359T:p.P1120L,RGS12:NM_198227:exon13:c.C1415T:p.P472L, 4 3429844 3429844 C T
line64 nonsynonymous SNV PAPPA2:NM_021936:exon2:c.C667T:p.P223S,PAPPA2:NM_020318:exon2:c.C667T:p.P223S, 1 176526125 176526125 C T
line65 frameshift substitution ESAM:NM_138961:exon4:c.547_547delinsCAGCG, 11 124626163 124626163 G CGCTG
line66 nonsynonymous SNV CLIC5:NM_001114086:exon1:c.G310A:p.G104S, 6 46047670 46047670 G T
line67 nonsynonymous SNV PML:NM_033250:exon2:c.C224T:p.T75M,PML:NM_033249:exon2:c.C224T:p.T75M,PML:NM_033240:exon2:c.C224T:p.T75M,PML:NM_033246:exon2:c.C224T:p.T75M,PML:NM_033239:exon2:c.C224T:p.T75M,PML:NM_033244:exon2:c.C224T:p.T75M,PML:NM_033238:exon2:c.C224T:p.T75M,PML:NM_033247:exon2:c.C224T:p.T75M,PML:NM_002675:exon2:c.C224T:p.T75M, 15 74290439 74290439 C T
line68 nonsynonymous SNV P2RY2:NM_176072:exon3:c.C76T:p.R26C,P2RY2:NM_002564:exon3:c.C76T:p.R26C,P2RY2:NM_176071:exon3:c.C76T:p.R26C, 11 72945280 72945280 C T
line69 nonsynonymous SNV C16orf62:NM_020314:exon1:c.C161G:p.A54G, 16 19566945 19566945 C G
line70 nonsynonymous SNV DHX8:NM_004941:exon9:c.T1248G:p.F416L, 17 41573584 41573584 T G
line72 nonsynonymous SNV ACOT6:NM_001037162:exon2:c.A509G:p.Y170C, 14 74086428 74086428 A G
line73 nonsynonymous SNV SAP30BP:NM_013260:exon11:c.G868A:p.G290S, 17 73702542 73702542 G A
line74 nonsynonymous SNV NAPRT1:NM_145201:exon4:c.C562A:p.L188M, 8 144659445 144659445 C T
line75 nonsynonymous SNV ZBTB40:NM_014870:exon17:c.C3313T:p.R1105W,ZBTB40:NM_001083621:exon18:c.C3313T:p.R1105W, 1 22850725 22850725 C T
line78 stopgain SNV FAM13C:NM_198215:exon7:c.C713A:p.S238X,FAM13C:NM_001143773:exon8:c.C464A:p.S155X,FAM13C:NM_001001971:exon7:c.C713A:p.S238X,FAM13C:NM_001166698:exon8:c.C464A:p.S155X, 10 61029749 61029749 C T
line79 nonsynonymous SNV HMGCR:NM_000859:exon12:c.C1468T:p.R490C,HMGCR:NM_001130996:exon12:c.C1468T:p.R490C, 5 74650427 74650427 C T
line80 nonsynonymous SNV SPATA22:NM_001170697:exon6:c.G401T:p.R134L,SPATA22:NM_001170696:exon5:c.G272T:p.R91L,SPATA22:NM_001170699:exon6:c.G401T:p.R134L,SPATA22:NM_001170698:exon6:c.G401T:p.R134L,SPATA22:NM_001170695:exon6:c.G401T:p.R134L,SPATA22:NM_032598:exon6:c.G401T:p.R134L, 17 3352372 3352372 G A
line81 stopgain SNV URB2:NM_014777:exon7:c.G4000T:p.E1334X, 1 229783350 229783350 G T
line82 nonsynonymous SNV STAC2:NM_198993:exon2:c.T329G:p.L110R, 17 37374188 37374188 T C
line83 synonymous SNV OPA3:NM_001017989:exon1:c.G132T:p.P44P,OPA3:NM_025136:exon1:c.G132T:p.P44P, 19 46087891 46087891 G A
line84 nonsynonymous SNV MUC5B:NM_002458:exon31:c.G14698A:p.V4900M, 11 1272808 1272808 G A
line85 synonymous SNV SETD1A:NM_014712:exon2:c.G96T:p.L32L, 16 30970148 30970148 G T
line86 nonsynonymous SNV SLC4A8:NM_001039960:exon16:c.C2048T:p.A683V,SLC4A8:NM_001258403:exon16:c.C1889T:p.A630V,SLC4A8:NM_001258401:exon16:c.C1889T:p.A630V, 12 51868866 51868866 C T
line87 synonymous SNV TREM2:NM_018965:exon2:c.C292A:p.R98R,TREM2:NM_001271821:exon2:c.C292A:p.R98R, 6 41129100 41129100 C T
line88 nonsynonymous SNV DAB2IP:NM_138709:exon11:c.C2660T:p.A887V,DAB2IP:NM_032552:exon13:c.C2948T:p.A983V, 9 124536603 124536603 C T
line89 nonsynonymous SNV ABCG4:NM_001142505:exon3:c.A334G:p.M112V,ABCG4:NM_022169:exon3:c.A334G:p.M112V, 11 119024831 119024831 A G
line90 synonymous SNV MYH10:NM_001256095:exon14:c.C1477C:p.Q493Q,MYH10:NM_005964:exon13:c.C1450C:p.Q484Q,MYH10:NM_001256012:exon14:c.C1480C:p.Q494Q, 17 8445550 8445550 C G
line91 nonsynonymous SNV RRP1B:NM_015056:exon10:c.A914T:p.D305V, 21 45104456 45104456 A T
line92 synonymous SNV SPTLC2:NM_004863:exon2:c.G222T:p.T74T, 14 78063634 78063634 G A
line93 nonsynonymous SNV TOP3B:NM_003935:exon13:c.G1415T:p.R472L, 22 22316911 22316911 G A
line94 nonsynonymous SNV SPIB:NM_003121:exon3:c.G118A:p.A40T,SPIB:NM_001243999:exon3:c.G118A:p.A40T, 19 50925796 50925796 G A
line95 nonsynonymous SNV BIRC6:NM_016252:exon51:c.C9926T:p.S3309F, 2 32733272 32733272 C T
line96 synonymous SNV DNAH6:NM_001370:exon56:c.C9349A:p.R3117R, 2 84937507 84937507 C A
line97 synonymous SNV KIAA0195:NM_014738:exon31:c.T3837A:p.G1279G, 17 73495002 73495002 T A
line98 nonsynonymous SNV CYTH1:NM_004762:exon3:c.A136C:p.N46H,CYTH1:NM_017456:exon3:c.A136C:p.N46H, 17 76704313 76704313 A G
line99 nonsynonymous SNV ARHGEF38:NM_017700:exon2:c.G234T:p.E78D,ARHGEF38:NM_001242729:exon2:c.G234T:p.E78D, 4 106510442 106510442 G T
line101 synonymous SNV NFE2L3:NM_004289:exon4:c.C1665T:p.V555V, 7 26224983 26224983 C T
line102 nonsynonymous SNV H2AFV:NM_201517:exon3:c.G128T:p.R43L,H2AFV:NM_138635:exon4:c.G242T:p.R81L,H2AFV:NM_201436:exon3:c.G164T:p.R55L,H2AFV:NM_012412:exon4:c.G242T:p.R81L, 7 44875211 44875211 G A
line103 synonymous SNV RPH3A:NM_014954:exon5:c.A237G:p.L79L,RPH3A:NM_001143854:exon6:c.A249G:p.L83L, 12 113303237 113303237 A G
line104 nonsynonymous SNV AP2A2:NM_001242837:exon4:c.G412A:p.V138M,AP2A2:NM_012305:exon4:c.G412A:p.V138M, 11 972194 972194 G A
line105 nonsynonymous SNV ZNF530:NM_020880:exon3:c.G1229A:p.S410N, 19 58118122 58118122 G A
line106 nonsynonymous SNV TGM6:NM_198994:exon13:c.G1995C:p.R665S,TGM6:NM_001254734:exon12:c.G1861C:p.G621R, 20 2413163 2413163 G C
line107 stopgain SNV SLC26A8:NM_138718:exon14:c.G1534T:p.E512X,SLC26A8:NM_052961:exon16:c.G1849T:p.E617X,SLC26A8:NM_001193476:exon16:c.G1849T:p.E617X, 6 35927251 35927251 G A
line108 nonsynonymous SNV SMAP2:NM_001198978:exon9:c.G806A:p.S269N,SMAP2:NM_001198979:exon9:c.G881A:p.S294N,SMAP2:NM_022733:exon9:c.G896A:p.S299N,SMAP2:NM_001198980:exon9:c.G656A:p.S219N, 1 40882500 40882500 G A
line109 nonsynonymous SNV LARP7:NM_015454:exon7:c.A742T:p.I248F,LARP7:NM_001267039:exon9:c.A763T:p.I255F,LARP7:NM_016648:exon7:c.A742T:p.I248F, 4 113568450 113568450 A T
line110 nonsynonymous SNV BCORL1:NM_021946:exon3:c.A1165T:p.I389F, X 129147913 129147913 A T
line112 nonsynonymous SNV MTOR:NM_004958:exon15:c.A2387C:p.N796T, 1 11293489 11293489 A G
line113 nonsynonymous SNV CCDC108:NM_152389:exon4:c.A314C:p.N105T,CCDC108:NM_194302:exon5:c.A509C:p.N170T, 2 219900235 219900235 A G
line114 nonsynonymous SNV UNC13C:NM_001080534:exon9:c.G3850T:p.V1284F, 15 54586124 54586124 G T
line115 nonsynonymous SNV SLC19A2:NM_006996:exon3:c.G980T:p.R327L, 1 169439252 169439252 G A
line116 nonsynonymous SNV FBXO7:NM_012179:exon2:c.C358T:p.P120S,FBXO7:NM_001257990:exon2:c.C16T:p.P6S,FBXO7:NM_001033024:exon2:c.C121T:p.P41S, 22 32875203 32875203 C T
line117 nonsynonymous SNV TRAK1:NM_001042646:exon15:c.A2033G:p.H678R, 3 42261055 42261055 A G
line118 nonsynonymous SNV RASGRP1:NM_005739:exon9:c.G1022T:p.R341L,RASGRP1:NM_001128602:exon9:c.G1022T:p.R341L, 15 38800147 38800147 G A
line119 synonymous SNV RARG:NM_001243732:exon3:c.A559A:p.K187K,RARG:NM_000966:exon6:c.A625A:p.K209K,RARG:NM_001042728:exon4:c.A592A:p.K198K,RARG:NM_001243730:exon5:c.A409A:p.K137K,RARG:NM_001243731:exon4:c.A262A:p.K88K, 12 53608241 53608241 A T
line120 nonsynonymous SNV EVC2:NM_147127:exon10:c.G1222A:p.A408T,EVC2:NM_001166136:exon10:c.G982A:p.A328T, 4 5642489 5642489 G T
line121 synonymous SNV ZNF229:NM_014518:exon6:c.C982A:p.R328R, 19 44933974 44933974 C T
line122 synonymous SNV UBQLN1:NM_013438:exon6:c.A965A:p.N322N,UBQLN1:NM_053067:exon6:c.A965A:p.N322N, 9 86292782 86292782 A T
line123 synonymous SNV FASTKD5:NM_021826:exon2:c.C1238C:p.A413A, 20 3128479 3128479 C G
line124 nonsynonymous SNV COL3A1:NM_000090:exon5:c.C455T:p.S152F, 2 189851792 189851792 C T
line125 frameshift substitution XPR1:NM_004736:exon13:c.1771_1771delinsATTGCTTTGTTGCC,XPR1:NM_001135669:exon12:c.1576_1576delinsATTGCTTTGTTGCC, 1 180843041 180843041 A ATTGCTTTGTTGCC
line126 synonymous SNV DGCR2:NM_001173533:exon8:c.C1163C:p.P388P,DGCR2:NM_005137:exon9:c.C1286C:p.P429P,DGCR2:NM_001173534:exon8:c.C1154C:p.P385P,DGCR2:NM_001184781:exon9:c.C1277C:p.P426P, 22 19028681 19028681 C G
line128 frameshift substitution LAMA2:NM_000426:exon64:c.9139_9146G,LAMA2:NM_001079823:exon63:c.9127_9134G, 6 129835668 129835675 GAAGCCCA G
line129 nonsynonymous SNV INPP5A:NM_005539:exon4:c.C239T:p.A80V, 10 134463942 134463942 C T
line130 synonymous SNV SLC26A7:NM_134266:exon6:c.G750A:p.Q250Q,SLC26A7:NM_052832:exon6:c.G750A:p.Q250Q, 8 92346630 92346630 G A
line131 nonsynonymous SNV EDEM2:NM_018217:exon11:c.T1516G:p.Y506D,EDEM2:NM_001145025:exon10:c.T1405G:p.Y469D, 20 33703457 33703457 T C
line132 synonymous SNV METTL20:NM_001135864:exon4:c.T657C:p.P219P,METTL20:NM_001135863:exon4:c.T657C:p.P219P,METTL20:NM_173802:exon4:c.T657C:p.P219P, 12 31820792 31820792 T C
line133 synonymous SNV DOCK1:NM_001380:exon20:c.T1953C:p.L651L, 10 128840894 128840894 T C
line134 synonymous SNV PLA2G12B:NM_032562:exon1:c.C63C:p.S21S, 10 74714381 74714381 C G
line136 nonsynonymous SNV C17orf49:NM_174893:exon5:c.G508A:p.D170N,C17orf49:NM_001142798:exon5:c.G508A:p.D170N,C17orf49:NM_001142799:exon4:c.G406A:p.D136N, 17 6920327 6920327 G A
line137 nonsynonymous SNV SSBP3:NM_001009955:exon2:c.C100A:p.Q34K,SSBP3:NM_018070:exon2:c.C100A:p.Q34K,SSBP3:NM_145716:exon2:c.C100A:p.Q34K, 1 54870560 54870560 C T
line138 nonsynonymous SNV SSBP3:NM_001009955:exon2:c.C98A:p.A33E,SSBP3:NM_018070:exon2:c.C98A:p.A33E,SSBP3:NM_145716:exon2:c.C98A:p.A33E, 1 54870562 54870562 C T
line139 synonymous SNV YLPM1:NM_019589:exon1:c.T561C:p.A187A, 14 75230753 75230753 T C
line140 nonsynonymous SNV GPRIN3:NM_198281:exon2:c.G529T:p.V177F, 4 90170733 90170733 G A
line141 nonsynonymous SNV TBC1D14:NM_001113361:exon9:c.T1397C:p.I466T,TBC1D14:NM_001113363:exon7:c.T557C:p.I186T,TBC1D14:NM_020773:exon9:c.T1397C:p.I466T, 4 7008404 7008404 T C
line143 synonymous SNV SSFA2:NM_001130445:exon9:c.G1425A:p.T475T,SSFA2:NM_006751:exon9:c.G1425A:p.T475T, 2 182774637 182774637 G A
line144 nonsynonymous SNV C1orf185:NM_001136508:exon3:c.G176A:p.R59K, 1 51584391 51584391 G A
line145 nonsynonymous SNV FCGBP:NM_003890:exon3:c.G1516A:p.D506N, 19 40430427 40430427 G T
line146 nonsynonymous SNV KIAA1109:NM_015312:exon84:c.T14848G:p.Y4950D, 4 123283232 123283232 T G
line147 nonsynonymous SNV GNAO1:NM_138736:exon6:c.G679A:p.A227T,GNAO1:NM_020988:exon6:c.G679A:p.A227T, 16 56370728 56370728 G A
line148 nonsynonymous SNV SLC17A1:NM_005074:exon8:c.G861T:p.M287I, 6 25813095 25813095 G A
line149 frameshift substitution CCDC39:NM_181426:exon18:c.2497_2499C, 3 180334391 180334393 CAG G
line150 synonymous SNV ATP5O:NM_001697:exon7:c.C570A:p.G190G, 21 35275902 35275902 C T
line151 nonsynonymous SNV PRKCB:NM_002738:exon14:c.G1540T:p.A514S,PRKCB:NM_212535:exon14:c.G1540T:p.A514S, 16 24196438 24196438 G T
line152 synonymous SNV PSG2:NM_031246:exon3:c.G600A:p.R200R, 19 43579615 43579615 G T
line153 synonymous SNV ZNF14:NM_021030:exon4:c.A1377C:p.S459S, 19 19822713 19822713 A G
line154 synonymous SNV STAG1:NM_005862:exon7:c.A667A:p.T223T, 3 136240064 136240064 A T
line156 nonsynonymous SNV IGFL2:NM_001135113:exon3:c.C205T:p.P69S,IGFL2:NM_001002915:exon4:c.C238T:p.P80S, 19 46664002 46664002 C T
line157 nonsynonymous SNV MACF1:NM_012090:exon69:c.C12097T:p.R4033W, 1 39904999 39904999 C T
line158 nonsynonymous SNV PRKAG3:NM_017431:exon1:c.C21A:p.H7Q, 2 219696473 219696473 C T
line159 nonsynonymous SNV CEACAM18:NM_001080405:exon3:c.A334G:p.K112E, 19 51983685 51983685 A G
line160 nonsynonymous SNV ANO9:NM_001012302:exon5:c.G362A:p.R121Q, 11 432043 432043 G T
line161 synonymous SNV SLC38A2:NM_018976:exon12:c.C1026A:p.A342A, 12 46757537 46757537 C T
line162 nonsynonymous SNV ARHGEF10:NM_014629:exon8:c.G712A:p.D238N, 8 1824769 1824769 G A
line163 synonymous SNV PATE3:NM_001129883:exon2:c.C141T:p.G47G, 11 125659372 125659372 C T
line164 nonsynonymous SNV RECK:NM_021111:exon3:c.G206A:p.R69Q, 9 36058870 36058870 G A
line165 synonymous SNV NUP54:NM_017426:exon11:c.C1381A:p.R461R, 4 77038831 77038831 C T
line166 stopgain SNV LRIT1:NM_015613:exon4:c.C1677A:p.C559X, 10 85991878 85991878 C T
line167 nonsynonymous SNV PTPRM:NM_002845:exon26:c.G3602A:p.R1201Q,PTPRM:NM_001105244:exon28:c.G3641A:p.R1214Q, 18 8379193 8379193 G A
line168 synonymous SNV LRIT2:NM_001017924:exon2:c.C660A:p.L220L, 10 85984321 85984321 C T
line169 nonsynonymous SNV VPS39:NM_015289:exon23:c.C2368A:p.R790S, 15 42454322 42454322 C T
line170 frameshift substitution KDM5C:NM_004187:exon6:c.711_712T,KDM5C:NM_001146702:exon4:c.510_511T, X 53245325 53245326 GA A
line171 nonsynonymous SNV CIT:NM_001206999:exon3:c.T238G:p.Y80D,CIT:NM_007174:exon3:c.T238G:p.Y80D, 12 120306864 120306864 T C
line173 nonsynonymous SNV IFT81:NM_014055:exon4:c.G359A:p.R120H,IFT81:NM_031473:exon4:c.G359A:p.R120H,IFT81:NM_001143779:exon4:c.G359A:p.R120H, 12 110566865 110566865 G A
line174 nonsynonymous SNV DPYD:NM_000110:exon14:c.G1863T:p.W621C, 1 97915657 97915657 G A
line175 synonymous SNV ZDHHC23:NM_173570:exon3:c.G531C:p.G177G, 3 113672916 113672916 G C
line177 nonsynonymous SNV HECTD1:NM_015382:exon3:c.T278G:p.V93G, 14 31647323 31647323 T C
line178 nonsynonymous SNV DSCAM:NM_001389:exon8:c.C1721T:p.T574M,DSCAM:NM_001271534:exon8:c.C1721T:p.T574M, 21 41710090 41710090 C A
line179 synonymous SNV STAP2:NM_017720:exon1:c.T66T:p.Y22Y,STAP2:NM_001013841:exon1:c.T66T:p.Y22Y, 19 4338685 4338685 T A
line180 nonsynonymous SNV DDX10:NM_004398:exon10:c.A1228G:p.K410E, 11 108577470 108577470 A G
line181 nonsynonymous SNV CARD6:NM_032587:exon3:c.G1290C:p.K430N, 5 40852724 40852724 G C
line182 nonsynonymous SNV CAMK4:NM_001744:exon10:c.C862T:p.R288W, 5 110818516 110818516 C T
line183 nonsynonymous SNV CANX:NM_001024649:exon7:c.A629G:p.K210R,CANX:NM_001746:exon7:c.A629G:p.K210R, 5 179136974 179136974 A G
line184 stopgain SNV IFT140:NM_014714:exon19:c.G2368T:p.E790X, 16 1607967 1607967 G A
line185 synonymous SNV KLK13:NM_015596:exon2:c.T219G:p.T73T, 19 51563710 51563710 T C
line186 nonsynonymous SNV HTR7:NM_019860:exon2:c.G1211T:p.R404L,HTR7:NM_019859:exon2:c.G1211T:p.R404L,HTR7:NM_000872:exon2:c.G1211T:p.R404L, 10 92508680 92508680 G A
line187 nonsynonymous SNV CCDC84:NM_198489:exon10:c.T845C:p.V282A, 11 118886056 118886056 T C
line188 nonsynonymous SNV MBTPS1:NM_003791:exon13:c.C1655A:p.S552Y, 16 84104320 84104320 C T
line189 synonymous SNV EMR3:NM_032571:exon10:c.C1138T:p.L380L, 19 14752341 14752341 C A
line190 nonframeshift substitution ITGA6:NM_001079818:exon25:c.3181_3184A, 2 173368885 173368888 AAAG A
line195 stopgain SNV SERPINI1:NM_001122752:exon9:c.C1177T:p.R393X,SERPINI1:NM_005025:exon9:c.C1177T:p.R393X, 3 167543055 167543055 C T
line196 stopgain SNV KIAA1109:NM_015312:exon43:c.C7315T:p.Q2439X, 4 123185580 123185580 C T
line197 stopgain SNV KCNU1:NM_001031836:exon22:c.G2521T:p.E841X, 8 36768637 36768637 G T
line198 stopgain SNV BLNK:NM_001258442:exon3:c.C145T:p.R49X,BLNK:NM_001258440:exon3:c.C145T:p.R49X,BLNK:NM_001114094:exon3:c.C145T:p.R49X,BLNK:NM_001258441:exon3:c.C145T:p.R49X,BLNK:NM_013314:exon3:c.C145T:p.R49X, 10 98002509 98002509 G A
line199 stopgain SNV MKI67:NM_002417:exon13:c.A3649T:p.K1217X,MKI67:NM_001145966:exon12:c.A2569T:p.K857X, 10 129906455 129906455 T A
line200 stopgain SNV GLIPR1L2:NM_152436:exon2:c.G239A:p.W80X,GLIPR1L2:NM_001270396:exon2:c.G239A:p.W80X, 12 75804218 75804218 G A
line201 stopgain SNV TENM1:NM_001163279:exon28:c.G5514A:p.W1838X,TENM1:NM_001163278:exon28:c.G5517A:p.W1839X,TENM1:NM_014253:exon27:c.G5496A:p.W1832X, X 123526073 123526073 C T
line203 nonsynonymous SNV SLC18A2:NM_003054:exon2:c.A64C:p.I22L, 10 119001268 119001268 A C
line204 nonsynonymous SNV RUNX3:NM_001031680:exon5:c.G632A:p.R211H,RUNX3:NM_004350:exon4:c.G590A:p.R197H, 1 25233863 25233863 C T
line205 nonsynonymous SNV BSND:NM_057176:exon2:c.G262A:p.E88K, 1 55470779 55470779 G A
line206 nonsynonymous SNV CELSR2:NM_001408:exon1:c.C1268G:p.A423G, 1 109793969 109793969 C G
line207 nonsynonymous SNV TOR1AIP1:NM_015602:exon10:c.T1064C:p.F355S,TOR1AIP1:NM_001267578:exon10:c.T1067C:p.F356S, 1 179886686 179886686 T C
line208 nonsynonymous SNV RBBP5:NM_001193272:exon9:c.C910T:p.H304Y,RBBP5:NM_005057:exon9:c.C910T:p.H304Y,RBBP5:NM_001193273:exon9:c.C529T:p.H177Y, 1 205068937 205068937 G A
line209 nonsynonymous SNV ASAP2:NM_001135191:exon18:c.G1786A:p.V596M,ASAP2:NM_003887:exon18:c.G1786A:p.V596M, 2 9517076 9517076 G A
line210 nonsynonymous SNV NEB:NM_001164508:exon165:c.C23723T:p.T7908M,NEB:NM_001164507:exon165:c.C23723T:p.T7908M,NEB:NM_004543:exon137:c.C18584T:p.T6195M,NEB:NM_001271208:exon166:c.C23828T:p.T7943M, 2 152362011 152362011 G A
line211 nonsynonymous SNV GLS:NM_014905:exon17:c.T1817G:p.L606R, 2 191819508 191819508 T G
line212 nonsynonymous SNV RAD54L2:NM_015106:exon22:c.G4177A:p.E1393K, 3 51697209 51697209 G A
line213 nonsynonymous SNV SLIT2:NM_004787:exon16:c.A1562C:p.N521T, 4 20530671 20530671 A C
line214 nonsynonymous SNV C5orf42:NM_023073:exon21:c.G3805C:p.A1269P, 5 37195966 37195966 C G
line215 nonsynonymous SNV SLIT3:NM_001271946:exon28:c.G3053A:p.C1018Y,SLIT3:NM_003062:exon28:c.G3032A:p.C1011Y, 5 168123347 168123347 C T
line216 nonsynonymous SNV HIVEP1:NM_002114:exon4:c.G776T:p.C259F, 6 12120804 12120804 G T
line217 nonsynonymous SNV FILIP1:NM_015687:exon5:c.C3355T:p.R1119W, 6 76022193 76022193 G A
line218 nonsynonymous SNV LAMA2:NM_000426:exon31:c.C4477T:p.R1493C,LAMA2:NM_001079823:exon31:c.C4477T:p.R1493C, 6 129670483 129670483 C T
line219 nonsynonymous SNV INTS1:NM_001080453:exon7:c.G884A:p.S295N, 7 1538957 1538957 C T
line220 nonsynonymous SNV MIOS:NM_019005:exon4:c.C626G:p.A209G, 7 7612732 7612732 C G
line221 nonsynonymous SNV SNX31:NM_152628:exon7:c.G537C:p.L179F, 8 101624302 101624302 C G
line222 nonsynonymous SNV UPF2:NM_080599:exon7:c.G1682T:p.G561V,UPF2:NM_015542:exon7:c.G1682T:p.G561V, 10 12041981 12041981 C A
line223 nonsynonymous SNV FIBIN:NM_203371:exon1:c.T581C:p.I194T, 11 27016654 27016654 T C
line224 nonsynonymous SNV DCDC5:NM_020869:exon3:c.C80G:p.P27R, 11 30953456 30953456 G C
line225 unknown UNKNOWN 11 118949342 118949342 A G
line226 nonsynonymous SNV CBX5:NM_001127321:exon2:c.A29C:p.D10A,CBX5:NM_001127322:exon2:c.A29C:p.D10A,CBX5:NM_012117:exon2:c.A29C:p.D10A, 12 54651406 54651406 T G
line227 nonsynonymous SNV DTX1:NM_004416:exon1:c.C205G:p.L69V, 12 113496202 113496202 C G
line228 nonsynonymous SNV NCOR2:NM_001077261:exon39:c.C5857T:p.R1953C,NCOR2:NM_001206654:exon39:c.C5857T:p.R1953C,NCOR2:NM_006312:exon40:c.C5887T:p.R1963C, 12 124821527 124821527 G A
line229 nonsynonymous SNV FRY:NM_023037:exon35:c.A4612G:p.T1538A, 13 32786449 32786449 A G
line230 nonsynonymous SNV N4BP2L2:NM_033111:exon7:c.G715T:p.V239F, 13 33017959 33017959 C A
line231 nonsynonymous SNV HIF1A:NM_181054:exon9:c.C1156G:p.L386V,HIF1A:NM_001243084:exon9:c.C1228G:p.L410V,HIF1A:NM_001530:exon9:c.C1156G:p.L386V, 14 62203734 62203734 C G
line232 nonsynonymous SNV ADAMTS17:NM_139057:exon20:c.A2878G:p.R960G, 15 100533324 100533324 T C
line233 nonsynonymous SNV ADCY9:NM_001116:exon7:c.A2344G:p.S782G, 16 4033408 4033408 T C
line234 nonsynonymous SNV ITGA3:NM_005501:exon15:c.C2038G:p.P680A,ITGA3:NM_002204:exon15:c.C2038G:p.P680A, 17 48154453 48154453 C G
line235 nonsynonymous SNV TLK2:NM_001112707:exon10:c.G812A:p.R271Q,TLK2:NM_006852:exon11:c.G908A:p.R303Q, 17 60642438 60642438 G A
line236 nonsynonymous SNV LDLRAD4:NM_181481:exon4:c.G64A:p.G22S,LDLRAD4:NM_181482:exon4:c.G64A:p.G22S, 18 13438266 13438266 G A
line237 nonsynonymous SNV CNDP2:NM_018235:exon8:c.A791C:p.E264A,CNDP2:NM_001168499:exon5:c.A539C:p.E180A, 18 72180842 72180842 A C
line238 nonsynonymous SNV DNMT1:NM_001379:exon24:c.C2299A:p.P767T,DNMT1:NM_001130823:exon25:c.C2347A:p.P783T, 19 10260563 10260563 G T
line239 nonsynonymous SNV NCAN:NM_004386:exon14:c.C3656T:p.P1219L, 19 19359527 19359527 C T
line240 nonsynonymous SNV SLC25A1:NM_005984:exon9:c.C853T:p.R285W,SLC25A1:NM_001256534:exon8:c.C874T:p.R292W, 22 19163726 19163726 G A
line241 nonsynonymous SNV CLTCL1:NM_007098:exon12:c.G1921C:p.V641L,CLTCL1:NM_001835:exon12:c.G1921C:p.V641L, 22 19213768 19213768 C G
line242 nonsynonymous SNV CHEK2:NM_001005735:exon5:c.A686G:p.N229S,CHEK2:NM_145862:exon4:c.A557G:p.N186S,CHEK2:NM_007194:exon4:c.A557G:p.N186S, 22 29121000 29121000 T C
line243 nonsynonymous SNV CACNA1I:NM_021096:exon13:c.C2390T:p.T797M,CACNA1I:NM_001003406:exon12:c.C2285T:p.T762M, 22 40055497 40055497 C T
line244 nonsynonymous SNV CACNA1I:NM_021096:exon23:c.G4037A:p.R1346H,CACNA1I:NM_001003406:exon22:c.G3932A:p.R1311H, 22 40061944 40061944 G A
line248 nonsynonymous SNV ALDH4A1:NM_170726:exon6:c.A499G:p.I167V,ALDH4A1:NM_003748:exon6:c.A499G:p.I167V,ALDH4A1:NM_001161504:exon6:c.A319G:p.I107V, 1 19209877 19209877 T C
line249 nonsynonymous SNV CSF3R:NM_000760:exon4:c.G89C:p.S30T,CSF3R:NM_156039:exon4:c.G89C:p.S30T,CSF3R:NM_172313:exon4:c.G89C:p.S30T, 1 36941250 36941250 C G
line250 nonsynonymous SNV DNASE2B:NM_021233:exon5:c.G577A:p.V193I, 1 84878061 84878061 G A
line251 nonsynonymous SNV POGZ:NM_015100:exon19:c.A3628G:p.T1210A,POGZ:NM_001194937:exon19:c.A3601G:p.T1201A,POGZ:NM_145796:exon17:c.A3343G:p.T1115A,POGZ:NM_207171:exon17:c.A3469G:p.T1157A,POGZ:NM_001194938:exon18:c.A3442G:p.T1148A, 1 151377883 151377883 T C
line252 nonsynonymous SNV RUSC1:NM_001105204:exon10:c.G2339A:p.R780Q,RUSC1:NM_014328:exon9:c.G1250A:p.R417Q,RUSC1:NM_001105203:exon10:c.G2657A:p.R886Q,RUSC1:NM_001105205:exon9:c.G1427A:p.R476Q, 1 155300310 155300310 G A
line253 nonsynonymous SNV AASDH:NM_181806:exon3:c.A262G:p.I88V, 4 57248732 57248732 T C
line254 nonsynonymous SNV CDKAL1:NM_017774:exon4:c.A178G:p.I60V, 6 20548828 20548828 A G
line255 nonsynonymous SNV TSGA13:NM_052933:exon3:c.G71A:p.R24H, 7 130368463 130368463 C T
line256 nonsynonymous SNV CUL1:NM_003592:exon13:c.G1354A:p.V452I, 7 148484087 148484087 G A
line257 nonsynonymous SNV TDRD1:NM_198795:exon16:c.A2102G:p.N701S, 10 115973763 115973763 A G
line258 nonsynonymous SNV CKAP2:NM_001098525:exon3:c.G161C:p.R54T,CKAP2:NM_018204:exon3:c.G158C:p.R53T, 13 53035036 53035036 G C
line259 nonsynonymous SNV SOS2:NM_006939:exon23:c.C3812T:p.P1271L, 14 50585249 50585249 G A
line260 nonsynonymous SNV ADAMTS18:NM_199355:exon14:c.A2059G:p.K687E, 16 77356337 77356337 T C
line261 nonsynonymous SNV THRA:NM_001190919:exon10:c.G1249A:p.E417K,THRA:NM_003250:exon10:c.G1249A:p.E417K,THRA:NM_001190918:exon10:c.G1132A:p.E378K, 17 38249411 38249411 G A
line262 nonsynonymous SNV CXorf65:NM_001025265:exon6:c.G491A:p.R164K, X 70323898 70323898 C T
line263 synonymous SNV LAPTM5:NM_006762:exon4:c.C372A:p.A124A, 1 31212671 31212671 G T
line264 synonymous SNV CELSR2:NM_001408:exon1:c.C594G:p.T198T, 1 109793295 109793295 C G
line265 synonymous SNV SLC9C2:NM_178527:exon17:c.T2073C:p.F691F, 1 173502838 173502838 A G
line266 synonymous SNV FAM168B:NM_001009993:exon5:c.C405G:p.P135P, 2 131812915 131812915 G C
line267 synonymous SNV NYAP2:NM_020864:exon2:c.A189G:p.E63E, 2 226273785 226273785 A G
line268 synonymous SNV NEK4:NM_003157:exon2:c.C255T:p.F85F, 3 52802459 52802459 G A
line269 synonymous SNV SHQ1:NM_018130:exon10:c.C1146T:p.Y382Y, 3 72842102 72842102 G A
line270 synonymous SNV EFCAB12:NM_207307:exon4:c.G708A:p.E236E, 3 129134218 129134218 C T
line271 synonymous SNV TLR1:NM_003263:exon4:c.A60G:p.Q20Q, 4 38800393 38800393 T C
line272 synonymous SNV PDS5A:NM_001100400:exon8:c.C846T:p.S282S,PDS5A:NM_001100399:exon8:c.C846T:p.S282S, 4 39918698 39918698 G A
line273 synonymous SNV SLC9A3:NM_004174:exon10:c.T1581G:p.S527S, 5 480017 480017 A C
line274 synonymous SNV PPAP2A:NM_003711:exon2:c.T93C:p.H31H, 5 54771244 54771244 A G
line275 synonymous SNV FBN2:NM_001999:exon41:c.C5292T:p.C1764C, 5 127645000 127645000 G A
line276 synonymous SNV PCDHA13:NM_031865:exon1:c.C522G:p.P174P,PCDHA13:NM_018904:exon1:c.C522G:p.P174P, 5 140262375 140262375 C G
line277 synonymous SNV RARS:NM_002887:exon5:c.A522G:p.Q174Q, 5 167921598 167921598 A G
line278 synonymous SNV RPP40:NM_006638:exon8:c.T963C:p.P321P, 6 4995441 4995441 A G
line279 synonymous SNV GCNT2:NM_145655:exon1:c.C144G:p.A48A, 6 10586366 10586366 C G
line280 synonymous SNV GCLC:NM_001197115:exon2:c.A183G:p.E61E,GCLC:NM_001498:exon2:c.A183G:p.E61E, 6 53387293 53387293 T C
line281 synonymous SNV SEMA3E:NM_012431:exon7:c.C802A:p.R268R,SEMA3E:NM_001178129:exon7:c.C622A:p.R208R, 7 83036424 83036424 G T
line282 synonymous SNV PROSC:NM_007198:exon8:c.G819A:p.Q273Q, 8 37635613 37635613 G A
line283 synonymous SNV FAM208B:NM_017782:exon15:c.C4983T:p.S1661S, 10 5790367 5790367 C T
line284 synonymous SNV HPS1:NM_000195:exon12:c.C1023T:p.H341H, 10 100185707 100185707 G A
line285 synonymous SNV SYT9:NM_175733:exon5:c.C1260T:p.N420N, 11 7439282 7439282 C T
line286 unknown UNKNOWN 14 63784519 63784519 A G
line287 synonymous SNV GREM1:NM_001191323:exon3:c.A384G:p.R128R,GREM1:NM_013372:exon2:c.A507G:p.R169R,GREM1:NM_001191322:exon3:c.A297G:p.R99R, 15 33023398 33023398 A G
line288 synonymous SNV ZNF778:NM_001201407:exon7:c.G444T:p.T148T,ZNF778:NM_182531:exon6:c.G360T:p.T120T, 16 89293140 89293140 G T
line289 synonymous SNV TRPV3:NM_145068:exon15:c.C2049T:p.N683N,TRPV3:NM_001258205:exon15:c.C2049T:p.N683N, 17 3421906 3421906 G A
line290 synonymous SNV DNMT1:NM_001379:exon24:c.G2322A:p.L774L,DNMT1:NM_001130823:exon25:c.G2370A:p.L790L, 19 10260540 10260540 C T
line291 synonymous SNV DDX39A:NM_005804:exon6:c.G630A:p.V210V, 19 14521130 14521130 C T
line292 synonymous SNV MEF2B:NM_001145785:exon3:c.C78T:p.F26F,MEF2BNB-MEF2B:NM_005919:exon5:c.C78T:p.F26F, 19 19260215 19260215 G A
line293 synonymous SNV PPP1R13L:NM_001142502:exon12:c.G2316A:p.E772E,PPP1R13L:NM_006663:exon12:c.G2316A:p.E772E, 19 45885917 45885917 C T
line294 frameshift substitution KLHL17:NM_198317:exon9:c.1374_1376C, 1 899318 899320 CCT C
line295 nonsynonymous SNV DVL1:NM_004421:exon10:c.C1051T:p.R351W, 1 1274965 1274965 G A
line296 nonsynonymous SNV ESPN:NM_031475:exon10:c.C2227T:p.H743Y, 1 6512058 6512058 C T
line297 frameshift substitution TMEM201:NM_001130924:exon5:c.741_743C,TMEM201:NM_001010866:exon5:c.741_743C, 1 9661297 9661299 CCT C
line298 synonymous SNV MASP2:NM_006610:exon9:c.C1137T:p.Y379Y, 1 11090890 11090890 G A
line299 synonymous SNV CTRC:NM_007272:exon6:c.T507C:p.I169I, 1 15771114 15771114 T C
line300 frameshift substitution EPHA2:NM_004431:exon14:c.2472_2473G, 1 16458218 16458219 CG C
line301 nonsynonymous SNV EMC1:NM_001271429:exon22:c.C2861T:p.T954I,EMC1:NM_001271427:exon23:c.C2924T:p.T975I,EMC1:NM_015047:exon23:c.C2927T:p.T976I,EMC1:NM_001271428:exon23:c.C2924T:p.T975I, 1 19545852 19545852 G A
line302 nonsynonymous SNV LUZP1:NM_001142546:exon3:c.A2123G:p.D708G,LUZP1:NM_033631:exon4:c.A2123G:p.D708G, 1 23418632 23418632 T C
line303 nonsynonymous SNV NIPAL3:NM_020448:exon6:c.G514A:p.V172M, 1 24776090 24776090 G A
line304 stopgain SNV NIPAL3:NM_020448:exon12:c.C1192T:p.R398X, 1 24795646 24795646 C T
line305 nonsynonymous SNV EXTL1:NM_004455:exon9:c.G1597A:p.E533K, 1 26360265 26360265 G A
line306 nonsynonymous SNV NR0B2:NM_021969:exon1:c.C256T:p.R86W, 1 27240176 27240176 G A
line307 synonymous SNV AHDC1:NM_001029882:exon6:c.C2583T:p.R861R, 1 27876044 27876044 G A
line308 nonsynonymous SNV PTAFR:NM_001164723:exon3:c.C773G:p.A258G,PTAFR:NM_001164721:exon3:c.C773G:p.A258G,PTAFR:NM_000952:exon2:c.C773G:p.A258G,PTAFR:NM_001164722:exon2:c.C773G:p.A258G, 1 28476760 28476760 G C
line309 nonframeshift substitution EPB41:NM_203342:exon8:c.461_461delinsTTGA,EPB41:NM_001166006:exon7:c.1088_1088delinsTTGA,EPB41:NM_001166005:exon7:c.1088_1088delinsTTGA,EPB41:NM_001166007:exon7:c.461_461delinsTTGA,EPB41:NM_004437:exon8:c.461_461delinsTTGA,EPB41:NM_203343:exon6:c.983_983delinsTTGA, 1 29344918 29344918 T TTGA
line310 synonymous SNV COL16A1:NM_001856:exon37:c.C2496T:p.T832T, 1 32148577 32148577 G A
line311 nonsynonymous SNV YARS:NM_003680:exon3:c.T311C:p.M104T, 1 33276261 33276261 A G
line312 nonsynonymous SNV PHC2:NM_004427:exon6:c.T740C:p.M247T,PHC2:NM_198040:exon13:c.T2345C:p.M782T, 1 33794548 33794548 A G
line313 nonsynonymous SNV PHC2:NM_198040:exon7:c.G1318A:p.V440M, 1 33820513 33820513 C T
line314 nonsynonymous SNV CSMD2:NM_052896:exon42:c.A6329G:p.D2110G, 1 34071483 34071483 T C
line315 synonymous SNV KIAA0319L:NM_024874:exon18:c.C2676T:p.S892S, 1 35908610 35908610 G A
line316 nonsynonymous SNV CLSPN:NM_001190481:exon5:c.C815T:p.T272M,CLSPN:NM_022111:exon5:c.C815T:p.T272M, 1 36228012 36228012 G A
line317 nonsynonymous SNV THRAP3:NM_005119:exon4:c.G808A:p.V270M, 1 36752639 36752639 G A
line318 stopgain SNV HIVEP3:NM_024503:exon4:c.C2800T:p.Q934X,HIVEP3:NM_001127714:exon3:c.C2800T:p.Q934X, 1 42047669 42047669 G A
line319 synonymous SNV HIVEP3:NM_024503:exon4:c.A1059G:p.K353K,HIVEP3:NM_001127714:exon3:c.A1059G:p.K353K, 1 42049410 42049410 T C
line320 nonsynonymous SNV CCDC30:NM_001080850:exon16:c.C2199G:p.I733M, 1 43119546 43119546 C G
line321 nonsynonymous SNV PTPRF:NM_130440:exon27:c.T4726C:p.S1576P,PTPRF:NM_002840:exon28:c.T4753C:p.S1585P, 1 44085065 44085065 T C
line322 nonsynonymous SNV PIK3R3:NM_001114172:exon9:c.G982A:p.V328I,PIK3R3:NM_003629:exon8:c.G982A:p.V328I, 1 46512257 46512257 C T
line323 nonsynonymous SNV TTC4:NM_004623:exon6:c.G596A:p.R199Q, 1 55194020 55194020 G A
line324 nonsynonymous SNV DNAJC6:NM_001256865:exon13:c.C1499T:p.P500L,DNAJC6:NM_001256864:exon12:c.C1709T:p.P570L,DNAJC6:NM_014787:exon12:c.C1538T:p.P513L, 1 65858354 65858354 C T
line325 synonymous SNV ZZZ3:NM_015534:exon5:c.A1074C:p.L358L, 1 78097966 78097966 T G
line326 synonymous SNV FUBP1:NM_003902:exon9:c.G678A:p.P226P, 1 78430612 78430612 C T
line327 nonsynonymous SNV LPHN2:NM_012302:exon5:c.C1115G:p.P372R, 1 82409370 82409370 C G
line328 stopgain SNV LPHN2:NM_012302:exon12:c.C2407T:p.R803X, 1 82433818 82433818 C T
line329 nonsynonymous SNV LPAR3:NM_012152:exon3:c.T899C:p.M300T, 1 85279692 85279692 A G
line330 nonsynonymous SNV ZNF326:NM_182975:exon2:c.G35C:p.C12S,ZNF326:NM_182976:exon2:c.G35C:p.C12S, 1 90463687 90463687 G C
line331 nonsynonymous SNV RPL5:NM_000969:exon8:c.C835T:p.R279W, 1 93307363 93307363 C T
line332 synonymous SNV BCAR3:NM_001261409:exon4:c.C393T:p.P131P,BCAR3:NM_003567:exon4:c.C393T:p.P131P,BCAR3:NM_001261410:exon2:c.C120T:p.P40P,BCAR3:NM_001261408:exon6:c.C393T:p.P131P, 1 94057915 94057915 G A
line333 stopgain SNV TAF13:NM_005645:exon4:c.C238T:p.R80X, 1 109607282 109607282 G A
line334 frameshift substitution TAF13:NM_005645:exon2:c.85_89G, 1 109617626 109617630 CTCTT C
line335 nonsynonymous SNV MYBPHL:NM_001265613:exon3:c.G235A:p.G79S,MYBPHL:NM_001010985:exon3:c.G235A:p.G79S, 1 109840239 109840239 C T
line336 nonsynonymous SNV SLC6A17:NM_001010898:exon6:c.G829A:p.A277T, 1 110719326 110719326 G A
line337 synonymous SNV CAPZA1:NM_006135:exon8:c.G657A:p.S219S, 1 113209767 113209767 G A
line338 frameshift substitution MOV10:NM_001130079:exon19:c.2762_2762delinsAC,MOV10:NM_020963:exon19:c.2762_2762delinsAC, 1 113242568 113242568 A AC
line339 synonymous SNV TRIM33:NM_033020:exon10:c.C1818T:p.S606S,TRIM33:NM_015906:exon10:c.C1818T:p.S606S, 1 114967255 114967255 G A
line340 synonymous SNV GDAP2:NM_017686:exon2:c.C153T:p.D51D,GDAP2:NM_001135589:exon2:c.C153T:p.D51D, 1 118462828 118462828 G A
line341 nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.T581G:p.I194S, 1 144931128 144931128 A C
line342 frameshift substitution POGZ:NM_015100:exon19:c.3936_3937G,POGZ:NM_001194937:exon19:c.3909_3910G,POGZ:NM_145796:exon17:c.3651_3652G,POGZ:NM_207171:exon17:c.3777_3778G,POGZ:NM_001194938:exon18:c.3750_3751G, 1 151377574 151377575 CA C
line343 synonymous SNV TDRKH:NM_001083965:exon2:c.G57C:p.L19L,TDRKH:NM_001083964:exon2:c.G57C:p.L19L,TDRKH:NM_006862:exon2:c.G57C:p.L19L,TDRKH:NM_001083963:exon2:c.G57C:p.L19L, 1 151755442 151755442 C G
line344 nonsynonymous SNV DCST1:NM_001143687:exon15:c.T1721C:p.L574S,DCST1:NM_152494:exon16:c.T1796C:p.L599S, 1 155020573 155020573 T C
line345 synonymous SNV GBA:NM_001171811:exon9:c.C1182T:p.N394N,GBA:NM_001171812:exon9:c.C1296T:p.N432N,GBA:NM_000157:exon10:c.C1443T:p.N481N,GBA:NM_001005741:exon11:c.C1443T:p.N481N,GBA:NM_001005742:exon11:c.C1443T:p.N481N, 1 155205048 155205048 G A
line346 nonsynonymous SNV ASH1L:NM_018489:exon3:c.G491A:p.R164H, 1 155452170 155452170 C T
line347 synonymous SNV HAPLN2:NM_021817:exon4:c.G291A:p.L97L, 1 156593804 156593804 G A
line348 nonsynonymous SNV INSRR:NM_014215:exon2:c.C106T:p.R36C, 1 156824075 156824075 G A
line349 synonymous SNV ARHGEF11:NM_198236:exon35:c.C3474T:p.D1158D,ARHGEF11:NM_014784:exon34:c.C3354T:p.D1118D, 1 156911204 156911204 G A
line350 nonsynonymous SNV ARHGEF11:NM_198236:exon23:c.C1942T:p.R648C,ARHGEF11:NM_014784:exon22:c.C1822T:p.R608C, 1 156918274 156918274 G A
line351 frameshift substitution DARC:NM_002036:exon2:c.382_383C,DARC:NM_001122951:exon1:c.388_389C, 1 159175611 159175612 CT C
line352 nonsynonymous SNV FCGR3B:NM_001271036:exon5:c.T596C:p.V199A,FCGR3B:NM_001271035:exon5:c.T752C:p.V251A,FCGR3B:NM_001271037:exon4:c.T338C:p.V113A,FCGR3B:NM_000570:exon6:c.T647C:p.V216A,FCGR3B:NM_001244753:exon5:c.T755C:p.V252A, 1 161594360 161594360 A G
line353 nonsynonymous SNV PBX1:NM_002585:exon2:c.C263T:p.T88I,PBX1:NM_001204961:exon2:c.C263T:p.T88I,PBX1:NM_001204963:exon2:c.C263T:p.T88I, 1 164532546 164532546 C T
line354 nonsynonymous SNV PRRC2C:NM_015172:exon16:c.G4664C:p.R1555P, 1 171511275 171511275 G C
line355 nonsynonymous SNV KLHL20:NM_014458:exon4:c.C676T:p.R226C, 1 173720981 173720981 C T
line356 nonsynonymous SNV SOAT1:NM_001252512:exon3:c.A122G:p.N41S,SOAT1:NM_003101:exon4:c.A317G:p.N106S,SOAT1:NM_001252511:exon3:c.A143G:p.N48S, 1 179304780 179304780 A G
line357 synonymous SNV TDRD5:NM_001199085:exon4:c.C726G:p.P242P,TDRD5:NM_001199089:exon4:c.C726G:p.P242P,TDRD5:NM_001199091:exon4:c.C726G:p.P242P,TDRD5:NM_173533:exon4:c.C726G:p.P242P, 1 179564848 179564848 C G
line358 nonsynonymous SNV TPR:NM_003292:exon36:c.A5158G:p.T1720A, 1 186303481 186303481 T C
line359 nonsynonymous SNV KIF14:NM_014875:exon2:c.A734G:p.D245G, 1 200587118 200587118 T C
line360 nonsynonymous SNV CACNA1S:NM_000069:exon24:c.A2936G:p.D979G, 1 201031189 201031189 T C
line361 nonsynonymous SNV PLEKHA6:NM_014935:exon5:c.G247A:p.V83I, 1 204236636 204236636 C T
line362 frameshift substitution PIK3C2B:NM_002646:exon25:c.3685_3686T, 1 204403561 204403568 ACTTACCG A
line363 nonsynonymous SNV PIK3C2B:NM_002646:exon3:c.A92G:p.Q31R, 1 204438839 204438839 T C
line364 nonsynonymous SNV NFASC:NM_001160332:exon12:c.T1255C:p.C419R,NFASC:NM_001005389:exon12:c.T1222C:p.C408R,NFASC:NM_001160331:exon10:c.T1255C:p.C419R,NFASC:NM_001160333:exon11:c.T1204C:p.C402R,NFASC:NM_001005388:exon12:c.T1222C:p.C408R,NFASC:NM_015090:exon12:c.T1255C:p.C419R, 1 204942490 204942490 T C
line365 frameshift substitution RASSF5:NM_182664:exon4:c.946_947C,RASSF5:NM_182663:exon4:c.946_947C,RASSF5:NM_182665:exon3:c.487_488C, 1 206757974 206757975 CA C
line366 nonsynonymous SNV CR1L:NM_175710:exon11:c.C1615G:p.P539A, 1 207891009 207891009 C G
line367 nonsynonymous SNV TLR5:NM_003268:exon6:c.C2549T:p.P850L, 1 223283825 223283825 G A
line368 nonsynonymous SNV NVL:NM_001243147:exon11:c.C991T:p.R331C,NVL:NM_002533:exon12:c.C1264T:p.R422C,NVL:NM_001243146:exon10:c.C697T:p.R233C,NVL:NM_206840:exon11:c.C946T:p.R316C, 1 224482030 224482030 G A
line369 nonsynonymous SNV PRSS38:NM_183062:exon5:c.C814T:p.P272S, 1 228033742 228033742 C T
line370 nonsynonymous SNV OBSCN:NM_001098623:exon25:c.G6839A:p.R2280Q,OBSCN:NM_052843:exon25:c.G6839A:p.R2280Q,OBSCN:NM_001271223:exon30:c.G8126A:p.R2709Q, 1 228465539 228465539 G A
line371 nonsynonymous SNV CAPN9:NM_016452:exon5:c.A586G:p.M196V,CAPN9:NM_006615:exon5:c.A586G:p.M196V, 1 230903336 230903336 A G
line372 nonsynonymous SNV TSNAX:NM_005999:exon4:c.C356G:p.A119G, 1 231678346 231678346 C G
line373 synonymous SNV NID1:NM_002508:exon2:c.C312T:p.V104V, 1 236212203 236212203 G A
line374 synonymous SNV RYR2:NM_001035:exon81:c.G11220A:p.V3740V, 1 237919662 237919662 G A
line375 nonsynonymous SNV ZP4:NM_021186:exon9:c.C1195A:p.L399M, 1 238048581 238048581 G T
line376 nonsynonymous SNV WDR64:NM_144625:exon7:c.C863T:p.A288V, 1 241850816 241850816 C T
line377 synonymous SNV KIF26B:NM_018012:exon8:c.C1878T:p.G626G, 1 245772794 245772794 C T
line378 nonsynonymous SNV CMPK2:NM_207315:exon5:c.C1346T:p.P449L, 2 6989985 6989985 G A
line379 synonymous SNV GTF3C2:NM_001521:exon14:c.T1783T:p.F595F,GTF3C2:NM_001035521:exon13:c.T1783T:p.F595F, 2 27552340 27552340 G A
line380 synonymous SNV VIT:NM_053276:exon4:c.C267T:p.A89A,VIT:NM_001177972:exon4:c.C267T:p.A89A,VIT:NM_001177970:exon4:c.C267T:p.A89A,VIT:NM_001177969:exon4:c.C267T:p.A89A,VIT:NM_001177971:exon4:c.C267T:p.A89A, 2 36970391 36970391 C T
line381 synonymous SNV HEATR5B:NM_019024:exon9:c.G1284C:p.V428V, 2 37292947 37292947 C G
line382 nonsynonymous SNV NRXN1:NM_004801:exon14:c.A2543G:p.E848G,NRXN1:NM_001135659:exon15:c.A2663G:p.E888G, 2 50724807 50724807 T C
line383 nonframeshift substitution EML6:NM_001039753:exon1:c.79_82A, 2 54952277 54952280 AACC A
line384 stopgain SNV ALMS1:NM_015120:exon10:c.C8650T:p.R2884X, 2 73717739 73717739 C T
line385 nonsynonymous SNV CTNNA2:NM_001164883:exon7:c.G943A:p.A315T,CTNNA2:NM_004389:exon7:c.G943A:p.A315T, 2 80136810 80136810 G A
line386 synonymous SNV DNAH6:NM_001370:exon16:c.T2533C:p.L845L, 2 84816001 84816001 T C
line387 nonsynonymous SNV ASTL:NM_001002036:exon6:c.C506T:p.A169V, 2 96798410 96798410 G A
line388 nonsynonymous SNV CNNM3:NM_199078:exon4:c.C1628A:p.T543N,CNNM3:NM_017623:exon5:c.C1772A:p.T591N, 2 97493918 97493918 C A
line389 synonymous SNV INPP4A:NM_001566:exon13:c.C1065T:p.Y355Y,INPP4A:NM_004027:exon13:c.C1065T:p.Y355Y,INPP4A:NM_001134224:exon13:c.C1065T:p.Y355Y,INPP4A:NM_001134225:exon13:c.C1065T:p.Y355Y, 2 99163059 99163059 C T
line390 nonsynonymous SNV SLC5A7:NM_021815:exon9:c.G1143A:p.M381I, 2 108626717 108626717 G A
line391 nonsynonymous SNV TMEM87B:NM_032824:exon8:c.T688C:p.Y230H, 2 112838945 112838945 T C
line392 nonsynonymous SNV ZC3H6:NM_198581:exon9:c.G1145C:p.R382T, 2 113080284 113080284 G C
line393 nonsynonymous SNV IL36B:NM_014438:exon3:c.C106T:p.R36C,IL36B:NM_173178:exon3:c.C106T:p.R36C, 2 113788640 113788640 G A
line394 nonsynonymous SNV GLI2:NM_005270:exon1:c.G31A:p.E11K, 2 121554927 121554927 G A
line395 nonsynonymous SNV RIF1:NM_018151:exon30:c.A5555G:p.Q1852R,RIF1:NM_001177664:exon30:c.A5555G:p.Q1852R,RIF1:NM_001177663:exon30:c.A5555G:p.Q1852R,RIF1:NM_001177665:exon29:c.A5555G:p.Q1852R, 2 152321589 152321589 A G
line396 stopgain SNV NEB:NM_001164508:exon21:c.T1917A:p.Y639X,NEB:NM_001164507:exon21:c.T1917A:p.Y639X,NEB:NM_004543:exon21:c.T1917A:p.Y639X,NEB:NM_001271208:exon21:c.T1917A:p.Y639X, 2 152548856 152548856 A T
line397 nonsynonymous SNV TANC1:NM_001145909:exon20:c.G3338A:p.R1113H,TANC1:NM_033394:exon20:c.G3362A:p.R1121H, 2 160074125 160074125 G A
line399 nonsynonymous SNV XIRP2:NM_152381:exon4:c.C642A:p.H214Q,XIRP2:NM_001199143:exon5:c.C741A:p.H247Q,XIRP2:NM_001079810:exon4:c.C642A:p.H214Q, 2 168067324 168067324 C A
line400 frameshift substitution TLK1:NM_001136555:exon9:c.813_814C,TLK1:NM_012290:exon11:c.1101_1102C,TLK1:NM_001136554:exon11:c.957_958C, 2 171902751 171902752 GT G
line401 nonsynonymous SNV SLC25A12:NM_003705:exon13:c.C1276T:p.L426F, 2 172666145 172666145 G A
line402 nonsynonymous SNV CDCA7:NM_031942:exon6:c.T824C:p.M275T,CDCA7:NM_145810:exon5:c.T587C:p.M196T, 2 174229647 174229647 T C
line403 nonsynonymous SNV TTN:NM_133432:exon30:c.G6923A:p.R2308H,TTN:NM_133379:exon31:c.G7061A:p.R2354H,TTN:NM_001256850:exon31:c.G7061A:p.R2354H,TTN:NM_003319:exon30:c.G6923A:p.R2308H,TTN:NM_133437:exon30:c.G6923A:p.R2308H,TTN:NM_133378:exon31:c.G7061A:p.R2354H,TTN:NM_001267550:exon31:c.G7061A:p.R2354H, 2 179638834 179638834 C T
line404 nonsynonymous SNV AOX1:NM_001159:exon26:c.G3017A:p.G1006E, 2 201515866 201515866 G A
line405 nonsynonymous SNV FN1:NM_212478:exon22:c.G3448A:p.V1150I,FN1:NM_212476:exon22:c.G3448A:p.V1150I,FN1:NM_212474:exon22:c.G3448A:p.V1150I,FN1:NM_002026:exon22:c.G3448A:p.V1150I,FN1:NM_212482:exon22:c.G3448A:p.V1150I, 2 216262472 216262472 C T
line406 nonsynonymous SNV SPEG:NM_005876:exon25:c.G5185T:p.D1729Y, 2 220344705 220344705 G T
line407 nonsynonymous SNV CUL3:NM_003590:exon16:c.G2254C:p.E752Q,CUL3:NM_001257198:exon16:c.G2272C:p.E758Q,CUL3:NM_001257197:exon15:c.G2056C:p.E686Q, 2 225339015 225339015 C G
line408 nonsynonymous SNV ITM2C:NM_001012514:exon4:c.C473T:p.T158M,ITM2C:NM_001012516:exon4:c.C503T:p.T168M,ITM2C:NM_030926:exon5:c.C614T:p.T205M, 2 231742167 231742167 C T
line409 synonymous SNV CHRNG:NM_005199:exon5:c.G369A:p.E123E, 2 233406102 233406102 G A
line410 nonsynonymous SNV KIF1A:NM_004321:exon44:c.C4824A:p.N1608K,KIF1A:NM_001244008:exon47:c.C5127A:p.N1709K, 2 241658510 241658510 G T
line411 nonsynonymous SNV ITPR1:NM_002222:exon20:c.C2381T:p.S794L,ITPR1:NM_001099952:exon21:c.C2426T:p.S809L,ITPR1:NM_001168272:exon20:c.C2381T:p.S794L, 3 4715041 4715041 C T
line412 synonymous SNV BRPF1:NM_004634:exon10:c.T3024C:p.S1008S,BRPF1:NM_001003694:exon10:c.T3042C:p.S1014S, 3 9786813 9786813 T C
line413 nonsynonymous SNV RPUSD3:NM_173659:exon7:c.G626A:p.R209Q,RPUSD3:NM_001142547:exon6:c.G581A:p.R194Q, 3 9881966 9881966 C T
line414 synonymous SNV ATP2B2:NM_001001331:exon2:c.C159T:p.T53T,ATP2B2:NM_001683:exon2:c.C159T:p.T53T, 3 10491069 10491069 G A
line415 nonsynonymous SNV NUP210:NM_024923:exon32:c.G4489A:p.V1497I, 3 13368735 13368735 C T
line416 nonsynonymous SNV LSM3:NM_014463:exon4:c.A250G:p.M84V, 3 14239557 14239557 A G
line417 nonsynonymous SNV STT3B:NM_178862:exon15:c.G2198A:p.R733H, 3 31674437 31674437 G A
line418 synonymous SNV GLB1:NM_001135602:exon5:c.C414T:p.F138F,GLB1:NM_001079811:exon8:c.C717T:p.F239F,GLB1:NM_000404:exon8:c.C807T:p.F269F, 3 33093482 33093482 G A
line419 synonymous SNV DCLK3:NM_033403:exon2:c.C1158T:p.I386I, 3 36778993 36778993 G A
line420 synonymous SNV CCBP2:NM_001296:exon3:c.T1095C:p.L365L, 3 42907089 42907089 T C
line421 nonsynonymous SNV ZNF445:NM_181489:exon3:c.C146T:p.P49L, 3 44496896 44496896 G A
line422 nonsynonymous SNV LIMD1:NM_014240:exon1:c.C1124G:p.T375R, 3 45637495 45637495 C G
line423 nonsynonymous SNV CELSR3:NM_001407:exon2:c.G3829A:p.V1277M, 3 48694701 48694701 C T
line424 frameshift substitution NCKIPSD:NM_184231:exon4:c.487_494C, 3 48719561 48719582 GGTGGGATCTGGGAAGATGGAA G
line425 nonsynonymous SNV RAD54L2:NM_015106:exon9:c.G1319A:p.R440Q, 3 51669785 51669785 G A
line426 nonsynonymous SNV ALAS1:NM_000688:exon8:c.C1069T:p.R357C,ALAS1:NM_199166:exon7:c.C1069T:p.R357C, 3 52240671 52240671 C T
line427 nonsynonymous SNV DNAH1:NM_015512:exon45:c.G7154T:p.W2385L, 3 52409424 52409424 G T
line428 nonsynonymous SNV PHF7:NM_016483:exon3:c.C91T:p.P31S,PHF7:NM_173341:exon3:c.C91T:p.P31S, 3 52448061 52448061 C T
line429 stopgain SNV PHF7:NM_016483:exon4:c.C112T:p.R38X,PHF7:NM_173341:exon4:c.C112T:p.R38X, 3 52448529 52448529 C T
line430 synonymous SNV DNAH12:NM_178504:exon27:c.C3909T:p.C1303C, 3 57431959 57431959 G A
line431 nonsynonymous SNV KCTD6:NM_001128214:exon3:c.G539A:p.G180E,KCTD6:NM_153331:exon2:c.G539A:p.G180E, 3 58487184 58487184 G A
line432 nonsynonymous SNV PTPRG:NM_002841:exon22:c.C3314G:p.T1105S, 3 62258752 62258752 C G
line433 nonsynonymous SNV GXYLT2:NM_001080393:exon4:c.T847A:p.F283I, 3 73004495 73004495 T A
line435 nonsynonymous SNV CRYBG3:NM_153605:exon13:c.A7797C:p.E2599D, 3 97617822 97617822 A C
line436 nonsynonymous SNV TFG:NM_001195478:exon8:c.C947T:p.P316L,TFG:NM_006070:exon8:c.C947T:p.P316L,TFG:NM_001195479:exon8:c.C935T:p.P312L,TFG:NM_001007565:exon8:c.C947T:p.P316L, 3 100467119 100467119 C T
line437 nonsynonymous SNV ALCAM:NM_001243281:exon12:c.A1466T:p.N489I,ALCAM:NM_001627:exon12:c.A1466T:p.N489I,ALCAM:NM_001243280:exon12:c.A1466T:p.N489I, 3 105269062 105269062 A T
line438 synonymous SNV DZIP3:NM_014648:exon25:c.G2724C:p.A908A, 3 108394663 108394663 G C
line439 synonymous SNV CD96:NM_005816:exon9:c.A1248G:p.Q416Q,CD96:NM_198196:exon10:c.A1296G:p.Q432Q, 3 111342668 111342668 A G
line440 nonsynonymous SNV KIAA2018:NM_001009899:exon7:c.G4317C:p.Q1439H, 3 113376212 113376212 C G
line441 synonymous SNV ALDH1L1:NM_001270364:exon8:c.G990A:p.E330E,ALDH1L1:NM_012190:exon8:c.G960A:p.E320E,ALDH1L1:NM_001270365:exon6:c.G657A:p.E219E, 3 125869273 125869273 C T
line442 nonsynonymous SNV PLXNA1:NM_032242:exon21:c.A4201T:p.M1401L, 3 126741090 126741090 A T
line443 synonymous SNV PLXND1:NM_015103:exon33:c.G5331A:p.K1777K, 3 129277385 129277385 C T
line444 stopgain SNV TRH:NM_007117:exon3:c.C355T:p.R119X, 3 129695685 129695685 C T
line445 stopgain SNV PAQR9:NM_198504:exon1:c.G140A:p.W47X, 3 142682039 142682039 C T
line446 nonsynonymous SNV HPS3:NM_032383:exon3:c.G796A:p.E266K, 3 148858887 148858887 G A
line447 synonymous SNV IGSF10:NM_178822:exon4:c.A768T:p.P256P, 3 151167001 151167001 T A
line448 nonsynonymous SNV SHOX2:NM_003030:exon6:c.A1003G:p.K335E,SHOX2:NM_001163678:exon5:c.A895G:p.K299E,SHOX2:NM_006884:exon5:c.A931G:p.K311E, 3 157815881 157815881 T C
line449 nonsynonymous SNV PSMD2:NM_002808:exon17:c.A2185G:p.M729V, 3 184025295 184025295 A G
line450 synonymous SNV EIF4G1:NM_182917:exon15:c.C2370T:p.D790D,EIF4G1:NM_004953:exon9:c.C1782T:p.D594D,EIF4G1:NM_001194947:exon16:c.C2388T:p.D796D,EIF4G1:NM_198242:exon12:c.C1875T:p.D625D,EIF4G1:NM_198244:exon13:c.C2106T:p.D702D,EIF4G1:NM_198241:exon16:c.C2367T:p.D789D,EIF4G1:NM_001194946:exon17:c.C2388T:p.D796D, 3 184041660 184041660 C T
line451 synonymous SNV EPHB3:NM_004443:exon7:c.C1482T:p.S494S, 3 184295448 184295448 C T
line452 nonsynonymous SNV DLG1:NM_001204386:exon10:c.G970A:p.G324S,DLG1:NM_001098424:exon11:c.G1069A:p.G357S,DLG1:NM_001204388:exon6:c.G721A:p.G241S,DLG1:NM_004087:exon11:c.G1069A:p.G357S,DLG1:NM_001204387:exon6:c.G721A:p.G241S, 3 196863463 196863463 C T
line453 nonsynonymous SNV ZNF721:NM_133474:exon3:c.G593A:p.R198H, 4 437663 437663 C T
line454 synonymous SNV HTT:NM_002111:exon50:c.G6852A:p.L2284L, 4 3215762 3215762 G A
line455 nonsynonymous SNV PSAPL1:NM_001085382:exon1:c.T1444C:p.C482R, 4 7435163 7435163 A G
line456 nonsynonymous SNV ZNF518B:NM_053042:exon3:c.A1645G:p.S549G, 4 10446308 10446308 T C
line457 frameshift substitution YTHDC1:NM_133370:exon4:c.787_787delinsATG,YTHDC1:NM_001031732:exon4:c.787_787delinsATG, 4 69202841 69202841 C CAT
line458 nonsynonymous SNV SULT1B1:NM_014465:exon8:c.A842G:p.Y281C, 4 70592855 70592855 T C
line459 nonsynonymous SNV ADAMTS3:NM_014243:exon20:c.G2786A:p.R929H, 4 73156717 73156717 C T
line460 nonsynonymous SNV PARM1:NM_015393:exon2:c.T104A:p.I35N, 4 75937695 75937695 T A
line461 nonsynonymous SNV SEC31A:NM_001077207:exon20:c.C2440A:p.P814T,SEC31A:NM_001077208:exon20:c.C2440A:p.P814T,SEC31A:NM_014933:exon20:c.C2440A:p.P814T,SEC31A:NM_016211:exon18:c.C2323A:p.P775T,SEC31A:NM_001191049:exon19:c.C2425A:p.P809T,SEC31A:NM_001077206:exon20:c.C2440A:p.P814T, 4 83770019 83770019 G T
line462 nonsynonymous SNV GRID2:NM_001510:exon12:c.C1970G:p.T657S, 4 94411901 94411901 C G
line463 nonsynonymous SNV METTL14:NM_020961:exon11:c.C1196T:p.S399L, 4 119631282 119631282 C T
line464 nonsynonymous SNV MYOZ2:NM_016599:exon5:c.G438T:p.K146N, 4 120085427 120085427 G T
line465 nonsynonymous SNV ANKRD50:NM_001167882:exon3:c.T2912C:p.L971S,ANKRD50:NM_020337:exon4:c.T3449C:p.L1150S, 4 125590983 125590983 A G
line466 nonsynonymous SNV FAT4:NM_024582:exon1:c.A2577T:p.Q859H, 4 126240143 126240143 A T
line467 nonsynonymous SNV PCDH10:NM_032961:exon1:c.C601A:p.L201M,PCDH10:NM_020815:exon1:c.C601A:p.L201M, 4 134071896 134071896 C A
line468 synonymous SNV USP38:NM_032557:exon9:c.G2763A:p.V921V, 4 144135892 144135892 G A
line469 nonsynonymous SNV DCHS2:NM_017639:exon25:c.G8693C:p.G2898A, 4 155155746 155155746 C G
line470 nonsynonymous SNV CBR4:NM_032783:exon5:c.G634A:p.A212T, 4 169911381 169911381 C T
line471 nonsynonymous SNV SORBS2:NM_021069:exon13:c.G2151T:p.Q717H,SORBS2:NM_001145674:exon7:c.G1863T:p.Q621H,SORBS2:NM_001270771:exon16:c.G2451T:p.Q817H, 4 186544420 186544420 C A
line472 nonsynonymous SNV TLR3:NM_003265:exon4:c.G655A:p.A219T, 4 187003495 187003495 G A
line473 synonymous SNV LPCAT1:NM_024830:exon13:c.C1419T:p.F473F, 5 1466865 1466865 G A
line474 nonsynonymous SNV PDZD2:NM_178140:exon17:c.C3410A:p.P1137H, 5 32074622 32074622 C A
line475 nonsynonymous SNV ZFR:NM_016107:exon15:c.A2611G:p.I871V, 5 32385644 32385644 T C
line476 stopgain SNV NIPBL:NM_133433:exon47:c.C8319G:p.Y2773X, 5 37064898 37064898 C G
line477 synonymous SNV MAP3K1:NM_005921:exon10:c.T1866C:p.S622S, 5 56171038 56171038 T C
line478 nonsynonymous SNV ADAMTS6:NM_197941:exon24:c.C3224A:p.T1075N, 5 64466464 64466464 G T
line479 synonymous SNV MAST4:NM_001164664:exon29:c.G6384A:p.R2128R,MAST4:NM_015183:exon28:c.G5817A:p.R1939R, 5 66461391 66461391 G A
line480 nonsynonymous SNV TAF9:NM_001015892:exon3:c.C728T:p.A243V,TAF9:NM_003187:exon3:c.C728T:p.A243V, 5 68660837 68660837 G A
line481 synonymous SNV VCAN:NM_001164097:exon7:c.A5514G:p.P1838P,VCAN:NM_004385:exon8:c.A8475G:p.P2825P, 5 82837297 82837297 A G
line482 frameshift substitution ATG12:NM_004707:exon2:c.193_197C, 5 115173428 115173432 GGAGT G
line483 synonymous SNV CHSY3:NM_175856:exon3:c.A2379G:p.A793A, 5 129521214 129521214 A G
line484 synonymous SNV KIF3A:NM_007054:exon3:c.C306T:p.T102T, 5 132062165 132062165 G A
line485 nonsynonymous SNV SHROOM1:NM_001172700:exon7:c.T1679C:p.L560P,SHROOM1:NM_133456:exon4:c.T1679C:p.L560P, 5 132159674 132159674 A G
line486 synonymous SNV VDAC1:NM_003374:exon4:c.C231T:p.T77T, 5 133326732 133326732 G A
line487 nonsynonymous SNV CD14:NM_001040021:exon3:c.G454A:p.V152M,CD14:NM_001174104:exon3:c.G454A:p.V152M,CD14:NM_000591:exon2:c.G454A:p.V152M,CD14:NM_001174105:exon3:c.G454A:p.V152M, 5 140012115 140012115 C T
line488 nonsynonymous SNV CD14:NM_001040021:exon3:c.C79A:p.L27M,CD14:NM_001174104:exon3:c.C79A:p.L27M,CD14:NM_000591:exon2:c.C79A:p.L27M,CD14:NM_001174105:exon3:c.C79A:p.L27M, 5 140012490 140012490 G T
line489 stopgain SNV PCDHAC2:NM_031883:exon1:c.G148T:p.E50X,PCDHAC2:NM_018899:exon1:c.G148T:p.E50X, 5 140346499 140346499 G T
line490 synonymous SNV PCDHGA11:NM_018914:exon1:c.G1932A:p.V644V,PCDHGA11:NM_032091:exon1:c.G1932A:p.V644V, 5 140802726 140802726 G A
line491 nonsynonymous SNV SH3TC2:NM_024577:exon11:c.T1723A:p.L575M, 5 148407572 148407572 A T
line492 synonymous SNV ARSI:NM_001012301:exon1:c.C78T:p.S26S, 5 149681859 149681859 G A
line493 synonymous SNV GEMIN5:NM_001252156:exon24:c.C3453T:p.T1151T,GEMIN5:NM_015465:exon24:c.C3456T:p.T1152T, 5 154275793 154275793 G A
line494 nonsynonymous SNV STK10:NM_005990:exon10:c.T1565C:p.L522P, 5 171517356 171517356 A G
line495 synonymous SNV SH3PXD2B:NM_001017995:exon9:c.G693A:p.P231P, 5 171780984 171780984 C T
line496 nonsynonymous SNV NSD1:NM_172349:exon6:c.G2327A:p.R776H,NSD1:NM_022455:exon5:c.G3134A:p.R1045H, 5 176638534 176638534 G A
line497 synonymous SNV DBN1:NM_080881:exon13:c.C1473G:p.L491L,DBN1:NM_004395:exon12:c.C1467G:p.L489L, 5 176885368 176885368 G C
line498 synonymous SNV EXOC2:NM_018303:exon6:c.C568T:p.L190L, 6 617804 617804 G A
line499 nonsynonymous SNV GFOD1:NM_001242628:exon2:c.C14T:p.A5V,GFOD1:NM_018988:exon2:c.C323T:p.A108V,GFOD1:NM_001242630:exon2:c.C14T:p.A5V, 6 13365825 13365825 G A
line500 nonsynonymous SNV JARID2:NM_001267040:exon8:c.G1789A:p.G597S,JARID2:NM_004973:exon8:c.G2305A:p.G769S, 6 15501497 15501497 G A
line501 nonsynonymous SNV ALDH5A1:NM_170740:exon8:c.C1144T:p.R382C,ALDH5A1:NM_001080:exon7:c.C1105T:p.R369C, 6 24523085 24523085 C T
line502 nonsynonymous SNV HIST1H2BE:NM_003523:exon1:c.C116A:p.S39Y, 6 26184139 26184139 C A
line503 synonymous SNV HIST1H3G:NM_003534:exon1:c.C96T:p.A32A, 6 26271517 26271517 G A
line504 nonsynonymous SNV HIST1H4I:NM_003495:exon1:c.G100A:p.A34T, 6 27107187 27107187 G A
line505 synonymous SNV OR11A1:NM_013937:exon1:c.G573A:p.S191S, 6 29394846 29394846 C T
line506 frameshift substitution PRRC2A:NM_004638:exon30:c.6302_6303T,PRRC2A:NM_080686:exon30:c.6302_6303T, 6 31605070 31605071 TC T
line507 nonsynonymous SNV FKBPL:NM_022110:exon2:c.G371C:p.C124S, 6 32097187 32097187 C G
line508 stopgain SNV BTNL2:NM_019602:exon2:c.G194A:p.W65X, 6 32372949 32372949 C T
line509 nonsynonymous SNV RGL2:NM_004761:exon5:c.G448A:p.D150N,RGL2:NM_001243738:exon4:c.G202A:p.D68N, 6 33264213 33264213 C T
line510 synonymous SNV ANKS1A:NM_015245:exon8:c.G1116T:p.S372S, 6 34952962 34952962 G T
line511 nonsynonymous SNV C6orf222:NM_001010903:exon5:c.G946A:p.V316I, 6 36294377 36294377 C T
line512 synonymous SNV PIM1:NM_002648:exon4:c.G453A:p.V151V,PIM1:NM_001243186:exon4:c.G726A:p.V242V, 6 37139113 37139113 G A
line513 nonsynonymous SNV KIF6:NM_145027:exon11:c.C1269G:p.H423Q, 6 39513377 39513377 G C
line514 synonymous SNV ANKRD66:NM_001162435:exon3:c.T172C:p.L58L, 6 46719692 46719692 T C
line515 nonsynonymous SNV TFAP2D:NM_172238:exon8:c.C1190G:p.T397S, 6 50740408 50740408 C G
line516 nonsynonymous SNV PAQR8:NM_133367:exon2:c.G160A:p.G54S, 6 52268171 52268171 G A
line517 nonsynonymous SNV RIMS1:NM_001168410:exon1:c.T41G:p.L14W, 6 72926932 72926932 T G
line518 nonsynonymous SNV KCNQ5:NM_001160133:exon10:c.A1249C:p.K417Q,KCNQ5:NM_001160132:exon9:c.A1222C:p.K408Q, 6 73839517 73839517 A C
line519 nonsynonymous SNV TTK:NM_003318:exon10:c.C1000A:p.H334N,TTK:NM_001166691:exon10:c.C1000A:p.H334N, 6 80724195 80724195 C A
line520 stopgain SNV UFL1:NM_015323:exon12:c.A1336T:p.K446X, 6 96990826 96990826 A T
line521 nonsynonymous SNV AKD1:NM_001145128:exon38:c.A5249G:p.Y1750C, 6 109818734 109818734 T C
line522 frameshift substitution AKD1:NM_145025:exon12:c.1266_1270T, 6 109954110 109954114 ATAGT A
line523 nonsynonymous SNV LAMA4:NM_001105206:exon32:c.G4405A:p.A1469T,LAMA4:NM_001105207:exon32:c.G4384A:p.A1462T,LAMA4:NM_002290:exon32:c.G4384A:p.A1462T, 6 112443287 112443287 C T
line524 synonymous SNV TAAR8:NM_053278:exon1:c.T519C:p.D173D, 6 132874350 132874350 T C
line525 nonsynonymous SNV KIAA1244:NM_020340:exon12:c.C1438T:p.R480C, 6 138584058 138584058 C T
line526 nonsynonymous SNV KIAA1244:NM_020340:exon33:c.A5624G:p.K1875R, 6 138655607 138655607 A G
line527 nonsynonymous SNV UTRN:NM_007124:exon55:c.C8314T:p.R2772C, 6 145073047 145073047 C T
line528 nonsynonymous SNV SYNE1:NM_182961:exon117:c.A21443C:p.E7148A,SYNE1:NM_033071:exon116:c.A21230C:p.E7077A, 6 152545708 152545708 T G
line529 nonsynonymous SNV ARID1B:NM_017519:exon10:c.T3011C:p.M1004T,ARID1B:NM_020732:exon11:c.T3050C:p.M1017T, 6 157495166 157495166 T C
line530 nonsynonymous SNV AMZ1:NM_133463:exon7:c.G1405A:p.D469N, 7 2752420 2752420 G A
line531 stopgain SNV TNRC18:NM_001080495:exon27:c.G8364A:p.W2788X, 7 5352158 5352158 C T
line532 synonymous SNV TNRC18:NM_001080495:exon9:c.C2649T:p.P883P, 7 5415815 5415815 G A
line533 nonsynonymous SNV FBXL18:NM_024963:exon4:c.G1926C:p.Q642H, 7 5530936 5530936 C G
line534 stopgain SNV DAGLB:NM_139179:exon13:c.C1540T:p.R514X,DAGLB:NM_001142936:exon11:c.C1153T:p.R385X, 7 6452471 6452471 G A
line535 nonsynonymous SNV CDCA7L:NM_018719:exon4:c.A411T:p.R137S,CDCA7L:NM_001127370:exon5:c.A309T:p.R103S,CDCA7L:NM_001127371:exon3:c.A273T:p.R91S, 7 21948018 21948018 T A
line536 nonframeshift substitution NUPL2:NM_007342:exon1:c.107_107delinsAGGCAGCAACCGC, 7 23221811 23221811 A AGGCAGCAACCGC
line537 nonsynonymous SNV SCRN1:NM_001145515:exon5:c.C694A:p.P232T,SCRN1:NM_001145513:exon6:c.C898A:p.P300T,SCRN1:NM_014766:exon6:c.C898A:p.P300T,SCRN1:NM_001145514:exon6:c.C958A:p.P320T, 7 29976179 29976179 G T
line538 nonsynonymous SNV NME8:NM_016616:exon5:c.C110T:p.A37V, 7 37890249 37890249 C T
line539 nonsynonymous SNV YAE1D1:NM_020192:exon3:c.A356G:p.K119R, 7 39611980 39611980 A G
line540 nonsynonymous SNV GLI3:NM_000168:exon7:c.C973T:p.R325C, 7 42079692 42079692 G A
line541 synonymous SNV ABCA13:NM_152701:exon7:c.T633C:p.N211N, 7 48269422 48269422 T C
line542 nonsynonymous SNV POM121C:NM_001099415:exon13:c.C2252T:p.T751M, 7 75051283 75051283 G A
line543 nonsynonymous SNV RUNDC3B:NM_001134405:exon7:c.G683A:p.G228D,RUNDC3B:NM_138290:exon8:c.G734A:p.G245D,RUNDC3B:NM_001134406:exon7:c.G683A:p.G228D, 7 87399950 87399950 G A
line544 nonsynonymous SNV AKAP9:NM_147185:exon21:c.A5308T:p.I1770F,AKAP9:NM_005751:exon21:c.A5308T:p.I1770F, 7 91674467 91674467 A T
line545 nonsynonymous SNV PEX1:NM_000466:exon4:c.C382A:p.Q128K, 7 92147545 92147545 G T
line546 synonymous SNV ACN9:NM_020186:exon1:c.T63G:p.R21R, 7 96747098 96747098 T G
line547 synonymous SNV ATP5J2-PTCD1:NM_001198879:exon3:c.G279A:p.A93A,PTCD1:NM_015545:exon2:c.G132A:p.A44A, 7 99032734 99032734 C T
line548 nonsynonymous SNV GNB2:NM_005273:exon9:c.A740C:p.D247A, 7 100276061 100276061 A C
line549 nonsynonymous SNV MUC17:NM_001040105:exon3:c.G6470C:p.S2157T, 7 100681167 100681167 G C
line550 nonsynonymous SNV RELN:NM_005045:exon39:c.A5942G:p.Y1981C,RELN:NM_173054:exon39:c.A5942G:p.Y1981C, 7 103194134 103194134 T C
line551 nonsynonymous SNV C7orf60:NM_152556:exon5:c.A1184G:p.Y395C, 7 112461833 112461833 T C
line552 nonsynonymous SNV C7orf60:NM_152556:exon1:c.G16C:p.G6R, 7 112579790 112579790 C G
line553 synonymous SNV CTTNBP2:NM_033427:exon6:c.T2367C:p.H789H, 7 117422921 117422921 A G
line554 nonsynonymous SNV SLC13A1:NM_022444:exon7:c.G703A:p.V235M, 7 122787322 122787322 C T
line555 nonsynonymous SNV SND1:NM_014390:exon9:c.A1010G:p.D337G, 7 127347673 127347673 A G
line556 nonsynonymous SNV CCDC136:NM_022742:exon9:c.C1298T:p.T433I, 7 128446791 128446791 C T
line557 synonymous SNV SLC13A4:NM_012450:exon6:c.C600T:p.N200N, 7 135387623 135387623 G A
line558 nonsynonymous SNV TAS2R3:NM_016943:exon1:c.C898T:p.R300W, 7 141464856 141464856 C T
line559 frameshift substitution CLCN1:NM_000083:exon1:c.21_22G, 7 143013326 143013327 GC G
line560 nonsynonymous SNV SSPO:NM_198455:exon34:c.G5056T:p.G1686C, 7 149488605 149488605 G T
line561 synonymous SNV SSPO:NM_198455:exon36:c.C5469A:p.P1823P, 7 149489224 149489224 C A
line562 synonymous SNV GIMAP8:NM_175571:exon5:c.C1525A:p.R509R, 7 150174395 150174395 C A
line563 nonsynonymous SNV NOS3:NM_000603:exon22:c.T2821G:p.S941A, 7 150707820 150707820 T G
line564 nonsynonymous SNV MLL3:NM_170606:exon33:c.C4859T:p.P1620L, 7 151884496 151884496 G A
line565 nonsynonymous SNV TNKS:NM_003747:exon1:c.A229T:p.R77W, 8 9413678 9413678 A T
line566 nonsynonymous SNV XKR6:NM_173683:exon1:c.A763G:p.R255G, 8 11058086 11058086 T C
line567 nonsynonymous SNV XPO7:NM_015024:exon19:c.A2045G:p.E682G, 8 21849382 21849382 A G
line568 nonsynonymous SNV FAM160B2:NM_022749:exon14:c.G1838A:p.R613Q, 8 21959349 21959349 G A
line569 nonsynonymous SNV PTK2B:NM_173176:exon8:c.A673G:p.K225E,PTK2B:NM_173174:exon13:c.A673G:p.K225E,PTK2B:NM_004103:exon9:c.A673G:p.K225E,PTK2B:NM_173175:exon8:c.A673G:p.K225E, 8 27288396 27288396 A G
line570 nonsynonymous SNV ESCO2:NM_001017420:exon3:c.C694T:p.R232C, 8 27634519 27634519 C T
line571 nonsynonymous SNV KIF13B:NM_015254:exon11:c.A1007G:p.N336S, 8 29025041 29025041 T C
line572 nonsynonymous SNV TEX15:NM_031271:exon1:c.T2686C:p.F896L, 8 30703848 30703848 A G
line573 nonsynonymous SNV WRN:NM_000553:exon29:c.C3437T:p.S1146L, 8 31004622 31004622 C T
line574 nonsynonymous SNV ANK1:NM_020475:exon16:c.C1791G:p.S597R,ANK1:NM_000037:exon16:c.C1791G:p.S597R,ANK1:NM_020477:exon16:c.C1791G:p.S597R,ANK1:NM_001142446:exon16:c.C1890G:p.S630R,ANK1:NM_020476:exon16:c.C1791G:p.S597R, 8 41571683 41571683 G C
line575 synonymous SNV RP1:NM_006269:exon4:c.T2436C:p.S812S, 8 55538878 55538878 T C
line576 nonsynonymous SNV TTPA:NM_000370:exon3:c.T379G:p.F127V, 8 63978636 63978636 A C
line577 nonsynonymous SNV XKR9:NM_001011720:exon3:c.G259A:p.G87R, 8 71593552 71593552 G A
line578 nonsynonymous SNV PI15:NM_015886:exon2:c.C254T:p.A85V, 8 75737738 75737738 C T
line579 nonsynonymous SNV FABP4:NM_001442:exon1:c.T17C:p.V6A, 8 82395386 82395386 A G
line580 synonymous SNV CHMP4C:NM_152284:exon2:c.C330T:p.G110G, 8 82665438 82665438 C T
line581 frameshift substitution KIAA1429:NM_183009:exon13:c.3135_3136T,KIAA1429:NM_015496:exon13:c.3135_3136T, 8 95523667 95523668 AG A
line582 nonsynonymous SNV YWHAZ:NM_145690:exon3:c.A344G:p.K115R,YWHAZ:NM_001135700:exon3:c.A344G:p.K115R,YWHAZ:NM_003406:exon3:c.A344G:p.K115R,YWHAZ:NM_001135701:exon3:c.A344G:p.K115R,YWHAZ:NM_001135702:exon3:c.A344G:p.K115R,YWHAZ:NM_001135699:exon3:c.A344G:p.K115R, 8 101937218 101937218 T C
line583 nonsynonymous SNV TRHR:NM_003301:exon2:c.G1051A:p.A351T, 8 110131538 110131538 G A
line584 nonsynonymous SNV SQLE:NM_003129:exon9:c.C1409G:p.A470G, 8 126030934 126030934 C G
line585 nonsynonymous SNV ASAP1:NM_001247996:exon17:c.G1231T:p.A411S,ASAP1:NM_018482:exon16:c.G1252T:p.A418S, 8 131140302 131140302 C A
line586 synonymous SNV FAM83H:NM_198488:exon5:c.T2739C:p.G913G, 8 144808892 144808892 A G
line587 nonsynonymous SNV PUF60:NM_078480:exon12:c.G1471A:p.G491R,PUF60:NM_001271098:exon12:c.G1468A:p.G490R,PUF60:NM_014281:exon11:c.G1420A:p.G474R,PUF60:NM_001271100:exon11:c.G1291A:p.G431R,PUF60:NM_001271099:exon11:c.G1384A:p.G462R,PUF60:NM_001271097:exon10:c.G1333A:p.G445R,PUF60:NM_001271096:exon11:c.G1417A:p.G473R,PUF60:NM_001136033:exon12:c.G1342A:p.G448R, 8 144898899 144898899 C T
line588 nonsynonymous SNV EPPK1:NM_031308:exon1:c.G6536A:p.R2179Q, 8 144940886 144940886 C T
line589 nonsynonymous SNV TONSL:NM_013432:exon6:c.G641A:p.R214H, 8 145667733 145667733 C T
line590 nonsynonymous SNV RANBP6:NM_001243202:exon2:c.C233T:p.T78I,RANBP6:NM_012416:exon1:c.C1289T:p.T430I, 9 6014319 6014319 G A
line591 nonsynonymous SNV HAUS6:NM_017645:exon5:c.G524C:p.R175T,HAUS6:NM_001270890:exon5:c.G524C:p.R175T, 9 19089470 19089470 C G
line592 synonymous SNV LINGO2:NM_152570:exon7:c.G1533A:p.A511A,LINGO2:NM_001258282:exon7:c.G1533A:p.A511A, 9 27949137 27949137 C T
line593 nonsynonymous SNV ACO1:NM_002197:exon12:c.G1387A:p.V463M, 9 32427337 32427337 G A
line594 synonymous SNV DCTN3:NM_007234:exon1:c.C66T:p.Y22Y,DCTN3:NM_024348:exon1:c.C66T:p.Y22Y, 9 34620396 34620396 G A
line595 nonsynonymous SNV PAX5:NM_016734:exon6:c.C620T:p.P207L, 9 36966706 36966706 G A
line596 nonsynonymous SNV PRUNE2:NM_015225:exon8:c.T1557G:p.D519E, 9 79325633 79325633 A C
line597 nonsynonymous SNV VPS13A:NM_001018038:exon58:c.G8091T:p.Q2697H,VPS13A:NM_001018037:exon57:c.G7974T:p.Q2658H,VPS13A:NM_015186:exon58:c.G8091T:p.Q2697H,VPS13A:NM_033305:exon58:c.G8091T:p.Q2697H, 9 79974304 79974304 G T
line598 synonymous SNV CTSL1:NM_001912:exon8:c.G999A:p.V333V,CTSL1:NM_001257971:exon8:c.G999A:p.V333V,CTSL1:NM_001257973:exon6:c.G453A:p.V151V,CTSL1:NM_145918:exon8:c.G999A:p.V333V,CTSL1:NM_001257972:exon8:c.G999A:p.V333V, 9 90346019 90346019 G A
line599 nonsynonymous SNV COL15A1:NM_001855:exon3:c.G566A:p.R189Q, 9 101748312 101748312 G A
line600 nonsynonymous SNV FSD1L:NM_001145313:exon7:c.A548T:p.Q183L,FSD1L:NM_207647:exon6:c.A452T:p.Q151L, 9 108246745 108246745 A T
line601 nonsynonymous SNV ACTL7B:NM_006686:exon1:c.C814A:p.L272M, 9 111617397 111617397 G T
line602 nonsynonymous SNV PTPN3:NM_002829:exon15:c.C1339A:p.Q447K,PTPN3:NM_001145369:exon10:c.C946A:p.Q316K,PTPN3:NM_001145371:exon5:c.C478A:p.Q160K,PTPN3:NM_001145370:exon9:c.C811A:p.Q271K,PTPN3:NM_001145368:exon14:c.C1204A:p.Q402K,PTPN3:NM_001145372:exon4:c.C343A:p.Q115K, 9 112172670 112172670 G T
line603 nonsynonymous SNV COL27A1:NM_032888:exon61:c.T5536A:p.S1846T, 9 117072928 117072928 T A
line604 nonsynonymous SNV PHF19:NM_015651:exon15:c.C1503G:p.D501E, 9 123620462 123620462 G C
line605 nonsynonymous SNV LHX6:NM_001242333:exon5:c.G436A:p.G146R,LHX6:NM_001242334:exon4:c.G382A:p.G128R,LHX6:NM_014368:exon5:c.G469A:p.G157R,LHX6:NM_199160:exon5:c.G469A:p.G157R, 9 124979560 124979560 C T
line606 synonymous SNV ANGPTL2:NM_012098:exon4:c.T1164C:p.P388P, 9 129854067 129854067 A G
line607 nonsynonymous SNV C9orf114:NM_016390:exon3:c.A110C:p.D37A, 9 131591112 131591112 T G
line608 synonymous SNV NUP188:NM_015354:exon33:c.G3609A:p.K1203K, 9 131761544 131761544 G A
line609 synonymous SNV ABL1:NM_007313:exon7:c.C1182T:p.H394H,ABL1:NM_005157:exon7:c.C1125T:p.H375H, 9 133750294 133750294 C T
line610 nonsynonymous SNV POMT1:NM_007171:exon12:c.C1228T:p.R410C,POMT1:NM_001136113:exon12:c.C1162T:p.R388C,POMT1:NM_001077366:exon11:c.C1000T:p.R334C,POMT1:NM_001136114:exon10:c.C811T:p.R271C,POMT1:NM_001077365:exon12:c.C1162T:p.R388C, 9 134388705 134388705 C T
line611 synonymous SNV INPP5E:NM_019892:exon7:c.C1407T:p.F469F, 9 139326418 139326418 G A
line612 synonymous SNV NOTCH1:NM_017617:exon34:c.C6327T:p.I2109I, 9 139391864 139391864 G A
line613 nonsynonymous SNV EGFL7:NM_201446:exon4:c.C292T:p.L98F,EGFL7:NM_016215:exon6:c.C292T:p.L98F, 9 139564152 139564152 C T
line614 nonsynonymous SNV MAMDC4:NM_206920:exon8:c.G905T:p.R302L, 9 139749099 139749099 G T
line615 nonsynonymous SNV EXD3:NM_017820:exon5:c.G326A:p.R109Q, 9 140267493 140267493 C T
line616 nonframeshift substitution ARRDC1:NM_152285:exon7:c.940_940delinsCAGGAGG, 9 140509155 140509155 C CAGGAGG
line617 frameshift substitution ZMYND11:NM_006624:exon13:c.1314_1318T,ZMYND11:NM_001202467:exon11:c.1152_1156T,ZMYND11:NM_001202464:exon12:c.1152_1156T,ZMYND11:NM_001202466:exon12:c.1149_1153T,ZMYND11:NM_001202468:exon12:c.1314_1318T,ZMYND11:NM_212479:exon13:c.1311_1315T,ZMYND11:NM_001202465:exon11:c.1059_1063T, 10 294362 294366 TCAGA T
line618 synonymous SNV DIP2C:NM_014974:exon29:c.C3468T:p.A1156A, 10 387255 387255 G A
line619 synonymous SNV KIAA1462:NM_020848:exon3:c.G900A:p.S300S, 10 30318177 30318177 C T
line620 stopgain SNV ZEB1:NM_001174093:exon8:c.C2794T:p.R932X,ZEB1:NM_001174096:exon9:c.C2857T:p.R953X,ZEB1:NM_001128128:exon9:c.C2806T:p.R936X,ZEB1:NM_001174094:exon9:c.C2803T:p.R935X,ZEB1:NM_001174095:exon8:c.C2653T:p.R885X,ZEB1:NM_030751:exon9:c.C2854T:p.R952X, 10 31815671 31815671 C T
line621 nonsynonymous SNV EPC1:NM_001272004:exon7:c.C986A:p.A329D,EPC1:NM_025209:exon7:c.C986A:p.A329D,EPC1:NM_001272019:exon7:c.C773A:p.A258D, 10 32576192 32576192 G T
line622 nonsynonymous SNV MAPK8:NM_139046:exon5:c.G511A:p.G171S,MAPK8:NM_002750:exon5:c.G511A:p.G171S,MAPK8:NM_139047:exon5:c.G511A:p.G171S,MAPK8:NM_139049:exon5:c.G511A:p.G171S, 10 49628258 49628258 G A
line623 nonsynonymous SNV PSAP:NM_001042465:exon1:c.A1G:p.M1V,PSAP:NM_001042466:exon1:c.A1G:p.M1V,PSAP:NM_002778:exon1:c.A1G:p.M1V, 10 73610978 73610978 T C
line624 synonymous SNV PAPSS2:NM_004670:exon11:c.T1659C:p.A553A,PAPSS2:NM_001015880:exon12:c.T1674C:p.A558A, 10 89504941 89504941 T C
line625 nonsynonymous SNV LIPK:NM_001080518:exon6:c.G755A:p.R252H, 10 90497477 90497477 G A
line626 nonsynonymous SNV ANKRD22:NM_144590:exon5:c.G412A:p.A138T, 10 90583123 90583123 C T
line627 nonsynonymous SNV ACTA2:NM_001141945:exon9:c.G1102A:p.G368R,ACTA2:NM_001613:exon9:c.G1102A:p.G368R, 10 90695012 90695012 C T
line628 synonymous SNV KIF20B:NM_016195:exon13:c.A1473G:p.K491K, 10 91479214 91479214 A G
line629 nonsynonymous SNV MYOF:NM_013451:exon37:c.C4111T:p.P1371S,MYOF:NM_133337:exon36:c.C4072T:p.P1358S, 10 95107512 95107512 G A
line630 nonsynonymous SNV TM9SF3:NM_020123:exon14:c.C1670T:p.A557V, 10 98287002 98287002 G A
line631 nonsynonymous SNV POLL:NM_001174085:exon2:c.G101A:p.G34E,POLL:NM_013274:exon2:c.G101A:p.G34E,POLL:NM_001174084:exon2:c.G101A:p.G34E, 10 103347017 103347017 C T
line632 synonymous SNV TMEM180:NM_024789:exon6:c.G744A:p.A248A, 10 104231069 104231069 G A
line633 nonsynonymous SNV PDCD11:NM_014976:exon20:c.G2891A:p.R964H, 10 105184868 105184868 G A
line634 nonsynonymous SNV ACSL5:NM_016234:exon2:c.G140A:p.G47D, 10 114154676 114154676 G A
line635 nonsynonymous SNV FAM160B1:NM_001135051:exon4:c.G382A:p.V128M,FAM160B1:NM_020940:exon4:c.G382A:p.V128M, 10 116595383 116595383 G A
line636 stopgain SNV CUZD1:NM_022034:exon8:c.T1581A:p.Y527X, 10 124593258 124593258 A T
line637 stopgain SNV MKI67:NM_002417:exon11:c.C2194T:p.R732X,MKI67:NM_001145966:exon10:c.C1114T:p.R372X, 10 129909975 129909975 G A
line638 nonsynonymous SNV MUC6:NM_005961:exon24:c.C3145G:p.L1049V, 11 1024924 1024924 G C
line639 nonsynonymous SNV MUC6:NM_005961:exon22:c.G2777A:p.R926Q, 11 1025827 1025827 C T
line640 nonsynonymous SNV MUC5B:NM_002458:exon31:c.C5803T:p.P1935S, 11 1263913 1263913 C T
line641 nonsynonymous SNV PDE3B:NM_000922:exon10:c.C2173T:p.R725C, 11 14854346 14854346 C T
line642 nonsynonymous SNV IGSF22:NM_173588:exon11:c.G1519A:p.V507I, 11 18736991 18736991 C T
line643 nonsynonymous SNV KIF18A:NM_031217:exon4:c.G562A:p.V188I, 11 28112982 28112982 C T
line644 nonsynonymous SNV KIF18A:NM_031217:exon2:c.C59T:p.P20L, 11 28119436 28119436 G A
line645 nonsynonymous SNV ACCSL:NM_001031854:exon1:c.C98T:p.T33M, 11 44069684 44069684 C T
line646 synonymous SNV PEX16:NM_057174:exon9:c.C834A:p.T278T,PEX16:NM_004813:exon9:c.C834A:p.T278T, 11 45935423 45935423 G T
line647 synonymous SNV DGKZ:NM_201533:exon2:c.G222A:p.P74P,DGKZ:NM_003646:exon2:c.G207A:p.P69P,DGKZ:NM_001199267:exon2:c.G207A:p.P69P,DGKZ:NM_001105540:exon3:c.G774A:p.P258P,DGKZ:NM_001199268:exon2:c.G207A:p.P69P,DGKZ:NM_201532:exon2:c.G258A:p.P86P,DGKZ:NM_001199266:exon2:c.G207A:p.P69P, 11 46388886 46388886 G A
line648 nonsynonymous SNV LRP4:NM_002334:exon20:c.G2719A:p.G907R, 11 46903348 46903348 C T
line649 synonymous SNV DDB2:NM_000107:exon6:c.G852A:p.S284S, 11 47256457 47256457 G A
line650 nonsynonymous SNV PTPRJ:NM_002843:exon6:c.C898T:p.R300W,PTPRJ:NM_001098503:exon6:c.C898T:p.R300W, 11 48146543 48146543 C T
line651 nonsynonymous SNV SMTNL1:NM_001105565:exon4:c.C1018T:p.R340W, 11 57313454 57313454 C T
line652 stopgain SNV ZDHHC5:NM_015457:exon11:c.G1942T:p.E648X, 11 57466850 57466850 G T
line653 nonsynonymous SNV FADS2:NM_004265:exon5:c.C654A:p.F218L, 11 61615666 61615666 C A
line654 synonymous SNV INCENP:NM_001040694:exon15:c.C2109G:p.R703R,INCENP:NM_020238:exon14:c.C2097G:p.R699R, 11 61914279 61914279 C G
line655 synonymous SNV NRXN2:NM_015080:exon9:c.G1404A:p.L468L,NRXN2:NM_138732:exon8:c.G1311A:p.L437L, 11 64435116 64435116 C T
line656 nonsynonymous SNV SYVN1:NM_032431:exon11:c.G1004A:p.R335H,SYVN1:NM_172230:exon11:c.G1004A:p.R335H, 11 64898233 64898233 C T
line657 nonsynonymous SNV SPDYC:NM_001008778:exon4:c.G293A:p.R98H, 11 64939751 64939751 G A
line658 nonframeshift substitution PCNXL3:NM_032223:exon15:c.2744_2753T, 11 65391969 65391978 TCCTCCTGGG T
line659 nonsynonymous SNV NUMA1:NM_006185:exon15:c.G2695A:p.A899T, 11 71725854 71725854 C T
line660 nonsynonymous SNV ARAP1:NM_015242:exon5:c.C197G:p.A66G,ARAP1:NM_001040118:exon7:c.C932G:p.A311G,ARAP1:NM_001135190:exon5:c.C197G:p.A66G, 11 72423331 72423331 G C
line661 nonsynonymous SNV GDPD5:NM_030792:exon13:c.G1205A:p.R402Q, 11 75152811 75152811 C T
line662 nonsynonymous SNV CAPN5:NM_004055:exon10:c.G1487A:p.R496Q, 11 76831955 76831955 G A
line663 nonsynonymous SNV CLNS1A:NM_001293:exon4:c.A373G:p.M125V, 11 77336107 77336107 T C
line665 nonsynonymous SNV MAML2:NM_032427:exon2:c.C1412T:p.S471L, 11 95825783 95825783 G A
line666 nonsynonymous SNV CEP164:NM_014956:exon3:c.A22G:p.I8V,CEP164:NM_001271933:exon2:c.A22G:p.I8V, 11 117209324 117209324 A G
line667 nonsynonymous SNV PHLDB1:NM_001144759:exon6:c.G1693A:p.G565R,PHLDB1:NM_015157:exon7:c.G1693A:p.G565R,PHLDB1:NM_001144758:exon6:c.G1693A:p.G565R, 11 118499232 118499232 G A
line668 synonymous SNV TECTA:NM_005422:exon6:c.C840T:p.T280T, 11 120989064 120989064 C T
line669 frameshift substitution HSPA8:NM_006597:exon7:c.1463_1463delinsGGCAT, 11 122929399 122929399 A ATGCC
line670 nonsynonymous SNV HSPA8:NM_006597:exon7:c.A1418G:p.Q473R, 11 122929444 122929444 T C
line671 nonsynonymous SNV HSPA8:NM_006597:exon6:c.C1286G:p.T429S,HSPA8:NM_153201:exon6:c.C1286G:p.T429S, 11 122929804 122929804 G C
line672 nonsynonymous SNV FOXRED1:NM_017547:exon2:c.A98G:p.K33R, 11 126141344 126141344 A G
line673 nonsynonymous SNV IQSEC3:NM_001170738:exon3:c.G653C:p.G218A, 12 234828 234828 G C
line674 synonymous SNV CD9:NM_001769:exon2:c.C72T:p.A24A, 12 6334597 6334597 C T
line675 nonsynonymous SNV CD163L1:NM_174941:exon8:c.A1925T:p.Y642F, 12 7548816 7548816 T A
line676 nonsynonymous SNV CD163:NM_203416:exon6:c.A1360G:p.N454D,CD163:NM_004244:exon6:c.A1360G:p.N454D, 12 7647737 7647737 T C
line677 nonsynonymous SNV SLCO1B7:NM_001009562:exon4:c.T446C:p.I149T, 12 21175889 21175889 T C
line678 frameshift substitution BCAT1:NM_001178093:exon8:c.876_877C,BCAT1:NM_001178091:exon7:c.729_730C,BCAT1:NM_001178094:exon8:c.837_838C,BCAT1:NM_001178092:exon6:c.657_658C,BCAT1:NM_005504:exon8:c.840_841C, 12 24989507 24989508 GT G
line679 nonsynonymous SNV STK38L:NM_015000:exon7:c.A546C:p.K182N, 12 27467465 27467465 A C
line680 synonymous SNV GXYLT1:NM_173601:exon7:c.G1008A:p.P336P,GXYLT1:NM_001099650:exon6:c.G915A:p.P305P, 12 42491397 42491397 C T
line681 nonsynonymous SNV ARID2:NM_152641:exon15:c.A2579G:p.N860S, 12 46244485 46244485 A G
line682 synonymous SNV FAM186B:NM_032130:exon1:c.G96A:p.E32E, 12 49999165 49999165 C T
line683 nonframeshift substitution SLC4A8:NM_001258402:exon3:c.213_213delinsCCGGAGA,SLC4A8:NM_001267615:exon3:c.54_54delinsCCGGAGA,SLC4A8:NM_001039960:exon3:c.213_213delinsCCGGAGA,SLC4A8:NM_001258403:exon3:c.54_54delinsCCGGAGA,SLC4A8:NM_001258401:exon3:c.54_54delinsCCGGAGA, 12 51844742 51844742 C CCGGAGA
line684 nonsynonymous SNV KRT82:NM_033033:exon1:c.G77A:p.R26Q, 12 52799985 52799985 C T
line685 nonsynonymous SNV ZC3H10:NM_032786:exon3:c.C1282T:p.R428C, 12 56515628 56515628 C T
line686 frameshift substitution SMARCC2:NM_139067:exon18:c.1694_1696G,SMARCC2:NM_001130420:exon18:c.1694_1696G, 12 56566768 56566770 CTT C
line687 synonymous SNV PIP4K2C:NM_001146258:exon1:c.A33G:p.V11V,PIP4K2C:NM_001146259:exon1:c.A33G:p.V11V,PIP4K2C:NM_001146260:exon1:c.A33G:p.V11V,PIP4K2C:NM_024779:exon1:c.A33G:p.V11V, 12 57985105 57985105 A G
line688 synonymous SNV AGAP2:NM_014770:exon8:c.G840A:p.P280P,AGAP2:NM_001122772:exon8:c.G1848A:p.P616P, 12 58125697 58125697 C T
line689 frameshift substitution XPOT:NM_007235:exon25:c.2885_2887C, 12 64841907 64841909 CCT C
line690 nonsynonymous SNV MDM1:NM_017440:exon8:c.C1058T:p.T353M,MDM1:NM_001205028:exon8:c.C953T:p.T318M, 12 68709981 68709981 G A
line691 nonsynonymous SNV CEP290:NM_025114:exon20:c.C2018G:p.S673C, 12 88508231 88508231 G C
line692 stopgain SNV EPYC:NM_004950:exon5:c.C562T:p.R188X, 12 91365717 91365717 G A
line693 synonymous SNV C12orf74:NM_001037671:exon2:c.A489G:p.L163L,C12orf74:NM_001178097:exon2:c.A489G:p.L163L, 12 93100896 93100896 A G
line694 nonsynonymous SNV IKBIP:NM_201612:exon3:c.G362A:p.R121H, 12 99008054 99008054 C T
line695 synonymous SNV DEPDC4:NM_152317:exon2:c.C328T:p.L110L, 12 100657501 100657501 G A
line696 nonsynonymous SNV NUP37:NM_024057:exon1:c.A106G:p.I36V, 12 102512191 102512191 T C
line697 nonsynonymous SNV ALDH1L2:NM_001034173:exon21:c.A2450G:p.D817G, 12 105424168 105424168 T C
line698 nonsynonymous SNV TCP11L2:NM_152772:exon3:c.T217C:p.S73P, 12 106708195 106708195 T C
line699 nonsynonymous SNV TCP11L2:NM_152772:exon3:c.A221C:p.N74T, 12 106708199 106708199 A C
line700 synonymous SNV SART3:NM_014706:exon9:c.C1227T:p.A409A, 12 108931346 108931346 G A
line701 synonymous SNV TBX5:NM_080717:exon7:c.C636T:p.T212T,TBX5:NM_000192:exon8:c.C786T:p.T262T,TBX5:NM_181486:exon8:c.C786T:p.T262T, 12 114804166 114804166 G A
line702 synonymous SNV ANAPC5:NM_016237:exon17:c.T2238C:p.S746S,ANAPC5:NM_001137559:exon17:c.T1902C:p.S634S, 12 121746313 121746313 A G
line703 nonsynonymous SNV ANAPC5:NM_016237:exon14:c.A1723G:p.K575E,ANAPC5:NM_001137559:exon14:c.A1387G:p.K463E, 12 121756326 121756326 T C
line704 synonymous SNV NCOR2:NM_001077261:exon21:c.G2616A:p.A872A,NCOR2:NM_001206654:exon21:c.G2616A:p.A872A,NCOR2:NM_006312:exon22:c.G2670A:p.A890A, 12 124856705 124856705 C T
line705 stopgain SNV PSPC1:NM_001042414:exon7:c.C1120T:p.R374X, 13 20304417 20304417 G A
line706 nonsynonymous SNV PSPC1:NM_001042414:exon2:c.A193G:p.I65V, 13 20356705 20356705 T C
line707 nonsynonymous SNV STARD13:NM_178006:exon12:c.G2896A:p.V966I,STARD13:NM_052851:exon12:c.G2542A:p.V848I,STARD13:NM_001243476:exon16:c.G2791A:p.V931I,STARD13:NM_178007:exon12:c.G2872A:p.V958I, 13 33684161 33684161 C T
line708 nonsynonymous SNV NBEA:NM_015678:exon12:c.G1690A:p.V564I, 13 35683436 35683436 G A
line709 nonsynonymous SNV HTR2A:NM_001165947:exon3:c.T371G:p.M124R,HTR2A:NM_000621:exon4:c.T623G:p.M208R, 13 47409765 47409765 A C
line710 nonframeshift substitution ITM2B:NM_021999:exon3:c.366_366delinsTGAA, 13 48830432 48830432 T TGAA
line711 nonsynonymous SNV INTS6:NM_012141:exon7:c.A802C:p.I268L,INTS6:NM_001039937:exon8:c.A763C:p.I255L, 13 51961614 51961614 T G
line712 synonymous SNV TBC1D4:NM_014832:exon1:c.T21C:p.I7I, 13 76055883 76055883 A G
line713 nonsynonymous SNV NALCN:NM_052867:exon34:c.C3791T:p.S1264L, 13 101733972 101733972 G A
line714 synonymous SNV CUL4A:NM_001008895:exon3:c.T363C:p.F121F,CUL4A:NM_003589:exon3:c.T63C:p.F21F, 13 113873357 113873357 T C
line715 synonymous SNV TMCO3:NM_017905:exon12:c.C1791T:p.V597V, 13 114202638 114202638 C T
line716 synonymous SNV RPGRIP1:NM_020366:exon14:c.C1920T:p.A640A, 14 21792934 21792934 C T
line717 synonymous SNV PSMB11:NM_001099780:exon1:c.C558G:p.G186G, 14 23511992 23511992 C G
line718 nonsynonymous SNV TINF2:NM_001099274:exon8:c.T1180G:p.L394V, 14 24709311 24709311 A C
line719 nonsynonymous SNV NYNRIN:NM_025081:exon9:c.C3118T:p.R1040W, 14 24884073 24884073 C T
line720 nonsynonymous SNV C14orf28:NM_001017923:exon2:c.T274G:p.F92V, 14 45369912 45369912 T G
line721 frameshift substitution KLHDC1:NM_172193:exon1:c.8_10A, 14 50159920 50159922 ACT A
line722 synonymous SNV KCNH5:NM_172375:exon7:c.C1110T:p.I370I,KCNH5:NM_139318:exon7:c.C1110T:p.I370I,KCNH5:NM_172376:exon7:c.C936T:p.I312I, 14 63417110 63417110 G A
line723 nonsynonymous SNV ESR2:NM_001214903:exon3:c.C589T:p.R197W,ESR2:NM_001040275:exon4:c.C589T:p.R197W,ESR2:NM_001271877:exon3:c.C589T:p.R197W,ESR2:NM_001437:exon4:c.C589T:p.R197W,ESR2:NM_001271876:exon3:c.C589T:p.R197W,ESR2:NM_001214902:exon3:c.C589T:p.R197W, 14 64735576 64735576 G A
line724 nonsynonymous SNV PLEKHH1:NM_020715:exon10:c.T1513C:p.F505L, 14 68038547 68038547 T C
line725 nonsynonymous SNV ACTN1:NM_001130004:exon12:c.A1310G:p.H437R,ACTN1:NM_001130005:exon12:c.A1310G:p.H437R,ACTN1:NM_001102:exon12:c.A1310G:p.H437R, 14 69352217 69352217 T C
line726 synonymous SNV ZNF410:NM_001242924:exon6:c.A540T:p.P180P,ZNF410:NM_001242927:exon4:c.A270T:p.P90P,ZNF410:NM_021188:exon5:c.A489T:p.P163P,ZNF410:NM_001242926:exon5:c.A489T:p.P163P, 14 74364874 74364874 A T
line727 nonsynonymous SNV DICER1:NM_001195573:exon7:c.A1126G:p.K376E,DICER1:NM_001271282:exon8:c.A1126G:p.K376E,DICER1:NM_177438:exon8:c.A1126G:p.K376E,DICER1:NM_030621:exon9:c.A1126G:p.K376E, 14 95590783 95590783 T C
line728 nonsynonymous SNV WARS:NM_213646:exon5:c.C464T:p.T155M,WARS:NM_173701:exon6:c.C587T:p.T196M,WARS:NM_004184:exon6:c.C587T:p.T196M,WARS:NM_213645:exon5:c.C464T:p.T155M, 14 100820162 100820162 G A
line729 frameshift substitution HSP90AA1:NM_005348:exon6:c.1126_1126delinsAGG,HSP90AA1:NM_001017963:exon7:c.1492_1492delinsAGG, 14 102550757 102550757 C CCT
line730 nonsynonymous SNV AKT1:NM_001014431:exon11:c.G1109A:p.R370H,AKT1:NM_005163:exon11:c.G1109A:p.R370H,AKT1:NM_001014432:exon12:c.G1109A:p.R370H, 14 105239278 105239278 C T
line731 nonsynonymous SNV TRPM1:NM_001252024:exon21:c.A2653T:p.I885F,TRPM1:NM_002420:exon20:c.A2587T:p.I863F,TRPM1:NM_001252020:exon20:c.A2704T:p.I902F, 15 31327796 31327796 T A
line732 nonsynonymous SNV RYR3:NM_001036:exon43:c.G6613A:p.V2205M,RYR3:NM_001243996:exon43:c.G6613A:p.V2205M, 15 33999249 33999249 G A
line733 nonsynonymous SNV RYR3:NM_001036:exon100:c.T14189C:p.I4730T,RYR3:NM_001243996:exon99:c.T14174C:p.I4725T, 15 34151822 34151822 T C
line734 synonymous SNV TMCO5A:NM_152453:exon11:c.T756C:p.D252D, 15 38243324 38243324 T C
line735 nonsynonymous SNV DLL4:NM_019074:exon9:c.G1729A:p.D577N, 15 41228914 41228914 G A
line736 nonsynonymous SNV INO80:NM_017553:exon7:c.G830A:p.R277H, 15 41377610 41377610 C T
line737 synonymous SNV OIP5:NM_007280:exon5:c.G597T:p.L199L, 15 41602045 41602045 C A
line738 nonsynonymous SNV SPTBN5:NM_016642:exon53:c.A8758G:p.T2920A, 15 42148742 42148742 T C
line739 frameshift substitution DUOXA2:NM_207581:exon1:c.24_25G, 15 45406827 45406828 GC G
line740 nonsynonymous SNV DUOXA1:NM_001276266:exon3:c.A217T:p.S73C,DUOXA1:NM_144565:exon6:c.A217T:p.S73C,DUOXA1:NM_001276264:exon6:c.A217T:p.S73C, 15 45413408 45413408 T A
line741 nonsynonymous SNV GNB5:NM_016194:exon12:c.A1045G:p.I349V,GNB5:NM_006578:exon10:c.A919G:p.I307V, 15 52416801 52416801 T C
line742 frameshift substitution VPS13C:NM_017684:exon23:c.2385_2387C,VPS13C:NM_020821:exon25:c.2514_2516C,VPS13C:NM_018080:exon23:c.2385_2387C,VPS13C:NM_001018088:exon25:c.2514_2516C, 15 62266509 62266511 GAT G
line743 nonsynonymous SNV CLPX:NM_006660:exon4:c.G368A:p.R123H, 15 65459114 65459114 C T
line744 nonsynonymous SNV UACA:NM_001008224:exon17:c.C3992T:p.T1331I,UACA:NM_018003:exon17:c.C4031T:p.T1344I, 15 70957083 70957083 G A
line745 frameshift substitution NR2E3:NM_014249:exon4:c.444_451T,NR2E3:NM_016346:exon4:c.444_451T, 15 72104389 72104396 TCCCCCGG T
line746 synonymous SNV DNAJA4:NM_001130182:exon6:c.C915T:p.R305R,DNAJA4:NM_018602:exon7:c.C1002T:p.R334R,DNAJA4:NM_001130183:exon6:c.C834T:p.R278R, 15 78572424 78572424 C T
line747 nonsynonymous SNV CHSY1:NM_014918:exon3:c.A1964G:p.Y655C, 15 101718038 101718038 T C
line748 nonsynonymous SNV RHBDF1:NM_022450:exon4:c.G308A:p.R103H, 16 113739 113739 C T
line749 nonsynonymous SNV MPG:NM_002434:exon5:c.C634T:p.R212C,MPG:NM_001015052:exon4:c.C619T:p.R207C,MPG:NM_001015054:exon4:c.C583T:p.R195C, 16 135513 135513 C T
line750 nonsynonymous SNV SOLH:NM_005632:exon4:c.A391G:p.K131E, 16 597229 597229 A G
line751 synonymous SNV BAIAP3:NM_001199097:exon29:c.G2778A:p.E926E,BAIAP3:NM_001199098:exon29:c.G2709A:p.E903E,BAIAP3:NM_001199096:exon28:c.G2670A:p.E890E,BAIAP3:NM_001199099:exon29:c.G2694A:p.E898E,BAIAP3:NM_003933:exon29:c.G2883A:p.E961E, 16 1397325 1397325 G A
line752 synonymous SNV GNPTG:NM_032520:exon7:c.C489T:p.F163F, 16 1412284 1412284 C T
line753 nonsynonymous SNV DNASE1L2:NM_001374:exon5:c.C473T:p.P158L, 16 2287532 2287532 C T
line754 nonsynonymous SNV CDIP1:NM_001199055:exon4:c.T233C:p.M78T,CDIP1:NM_001199054:exon4:c.T233C:p.M78T,CDIP1:NM_013399:exon4:c.T233C:p.M78T, 16 4563705 4563705 A G
line755 synonymous SNV USP7:NM_003470:exon6:c.A687G:p.L229L, 16 9012921 9012921 T C
line756 nonsynonymous SNV GRIN2A:NM_001134407:exon13:c.T3884C:p.I1295T,GRIN2A:NM_000833:exon14:c.T3884C:p.I1295T, 16 9857517 9857517 A G
line757 nonsynonymous SNV CLEC16A:NM_015226:exon6:c.G703A:p.D235N,CLEC16A:NM_001243403:exon6:c.G697A:p.D233N, 16 11066893 11066893 G A
line758 nonsynonymous SNV MYH11:NM_001040114:exon27:c.G3409A:p.E1137K,MYH11:NM_002474:exon26:c.G3388A:p.E1130K,MYH11:NM_001040113:exon27:c.G3409A:p.E1137K,MYH11:NM_022844:exon26:c.G3388A:p.E1130K, 16 15829341 15829341 C T
line759 synonymous SNV ACSM2B:NM_001105069:exon10:c.G1194A:p.K398K,ACSM2B:NM_182617:exon11:c.G1194A:p.K398K, 16 20556566 20556566 C T
line760 synonymous SNV DNAH3:NM_017539:exon13:c.A1893G:p.E631E, 16 21123341 21123341 T C
line761 nonsynonymous SNV EEF2K:NM_013302:exon10:c.G1147A:p.E383K, 16 22269932 22269932 G A
line762 nonsynonymous SNV COG7:NM_153603:exon8:c.G1103A:p.S368N, 16 23430055 23430055 C T
line763 synonymous SNV EARS2:NM_001083614:exon4:c.C513T:p.S171S, 16 23546654 23546654 G A
line764 synonymous SNV ATXN2L:NM_148416:exon22:c.G3012A:p.A1004A,ATXN2L:NM_017492:exon22:c.G3012A:p.A1004A,ATXN2L:NM_148414:exon22:c.G3012A:p.A1004A,ATXN2L:NM_145714:exon22:c.G3012A:p.A1004A,ATXN2L:NM_007245:exon22:c.G3012A:p.A1004A,ATXN2L:NM_148415:exon22:c.G3012A:p.A1004A, 16 28847370 28847370 G A
line765 nonsynonymous SNV TMEM219:NM_194280:exon4:c.C506T:p.T169I,TMEM219:NM_001083613:exon4:c.C506T:p.T169I, 16 29979496 29979496 C T
line766 nonsynonymous SNV TBC1D10B:NM_015527:exon7:c.G1471A:p.G491R, 16 30370664 30370664 C T
line767 nonsynonymous SNV FBXL19:NM_001271651:exon10:c.G1640A:p.R547H,FBXL19:NM_001099784:exon10:c.G1769A:p.R590H, 16 30958132 30958132 G A
line768 nonsynonymous SNV PYCARD:NM_145182:exon2:c.T320G:p.V107G,PYCARD:NM_013258:exon3:c.T377G:p.V126G, 16 31213117 31213117 A C
line769 synonymous SNV ADCY7:NM_001114:exon13:c.C1698T:p.S566S, 16 50339706 50339706 C T
line770 nonsynonymous SNV AKTIP:NM_001012398:exon6:c.T499C:p.W167R,AKTIP:NM_022476:exon6:c.T499C:p.W167R, 16 53528433 53528433 A G
line771 nonsynonymous SNV NLRC5:NM_032206:exon2:c.C106T:p.L36F, 16 57054730 57054730 C T
line772 nonsynonymous SNV NLRC5:NM_032206:exon16:c.G2924A:p.S975N, 16 57074615 57074615 G A
line773 nonsynonymous SNV CDH5:NM_001795:exon7:c.A1006C:p.I336L, 16 66426075 66426075 A C
line774 nonsynonymous SNV CES4A:NM_001190201:exon12:c.G1382T:p.R461M, 16 67043035 67043035 G T
line775 nonsynonymous SNV DPEP2:NM_022355:exon3:c.G271A:p.D91N, 16 68026532 68026532 C T
line776 nonsynonymous SNV SLC7A6:NM_003983:exon10:c.G1276A:p.V426M,SLC7A6:NM_001076785:exon11:c.G1276A:p.V426M, 16 68330536 68330536 G A
line777 nonsynonymous SNV PMFBP1:NM_031293:exon14:c.A2063G:p.Q688R,PMFBP1:NM_001160213:exon15:c.A1628G:p.Q543R, 16 72162581 72162581 T C
line778 nonsynonymous SNV CLEC3A:NM_005752:exon3:c.G590A:p.R197K,CLEC3A:NM_001244755:exon2:c.G407A:p.R136K, 16 78064707 78064707 G A
line779 nonsynonymous SNV TAF1C:NM_139353:exon15:c.T1441A:p.L481M,TAF1C:NM_005679:exon14:c.T1723A:p.L575M,TAF1C:NM_001243160:exon12:c.T292A:p.L98M,TAF1C:NM_001243159:exon14:c.T496A:p.L166M,TAF1C:NM_001243157:exon12:c.T727A:p.L243M,TAF1C:NM_001243158:exon11:c.T727A:p.L243M,TAF1C:NM_001243156:exon15:c.T1645A:p.L549M, 16 84213434 84213434 A T
line780 nonsynonymous SNV COX4I1:NM_001861:exon5:c.G469A:p.A157T, 16 85840439 85840439 G A
line781 nonsynonymous SNV FBXO31:NM_024735:exon9:c.A1465C:p.I489L, 16 87365049 87365049 T G
line782 synonymous SNV JPH3:NM_020655:exon2:c.C1098T:p.A366A, 16 87678579 87678579 C T
line783 synonymous SNV SLC7A5:NM_003486:exon2:c.G549C:p.T183T, 16 87885445 87885445 C G
line784 synonymous SNV ANKRD11:NM_013275:exon9:c.C1404T:p.R468R,ANKRD11:NM_001256183:exon9:c.C1404T:p.R468R,ANKRD11:NM_001256182:exon10:c.C1404T:p.R468R, 16 89351546 89351546 G A
line785 synonymous SNV SPATA2L:NM_152339:exon3:c.C387T:p.Y129Y, 16 89764630 89764630 G A
line786 nonframeshift substitution C17orf97:NM_001013672:exon2:c.951_1011T, 17 263585 263645 TGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC T
line787 synonymous SNV SMYD4:NM_052928:exon5:c.C1506T:p.N502N, 17 1703182 1703182 G A
line788 nonsynonymous SNV SGSM2:NM_001098509:exon21:c.C2737T:p.R913C,SGSM2:NM_014853:exon22:c.C2872T:p.R958C, 17 2281220 2281220 C T
line789 nonsynonymous SNV ALOX15:NM_001140:exon2:c.T158C:p.V53A, 17 4542904 4542904 A G
line790 nonsynonymous SNV NLRP1:NM_033006:exon16:c.C4182A:p.S1394R,NLRP1:NM_033004:exon17:c.C4272A:p.S1424R,NLRP1:NM_014922:exon16:c.C4140A:p.S1380R,NLRP1:NM_033007:exon15:c.C4050A:p.S1350R, 17 5418224 5418224 G T
line791 nonsynonymous SNV FBXO39:NM_153230:exon2:c.G526A:p.V176M, 17 6683713 6683713 G A
line792 nonsynonymous SNV ARHGEF15:NM_025014:exon12:c.C1874T:p.A625V,ARHGEF15:NM_173728:exon12:c.C1874T:p.A625V, 17 8222069 8222069 C T
line793 frameshift substitution DNAH9:NM_001372:exon60:c.11539_11539delinsGC,DNAH9:NM_004662:exon6:c.475_475delinsGC, 17 11806168 11806168 G GC
line794 synonymous SNV MYO15A:NM_016239:exon42:c.C8028G:p.L2676L, 17 18057150 18057150 C G
line795 nonsynonymous SNV NOS2:NM_000625:exon15:c.G1751A:p.R584Q, 17 26097997 26097997 C T
line796 nonsynonymous SNV TNFAIP1:NM_021137:exon3:c.G293A:p.R98Q, 17 26667422 26667422 G A
line797 nonsynonymous SNV MYO18A:NM_078471:exon23:c.G3656A:p.R1219H,MYO18A:NM_203318:exon23:c.G3656A:p.R1219H, 17 27425968 27425968 C T
line798 stopgain SNV TP53I13:NM_138349:exon5:c.C496T:p.R166X, 17 27899058 27899058 C T
line799 nonsynonymous SNV GIT1:NM_001085454:exon18:c.G1802A:p.S601N,GIT1:NM_014030:exon17:c.G1775A:p.S592N, 17 27902699 27902699 C T
line800 nonsynonymous SNV SSH2:NM_033389:exon14:c.G1477A:p.E493K, 17 27963690 27963690 C T
line801 nonsynonymous SNV SRCIN1:NM_025248:exon15:c.G2736T:p.E912D, 17 36707617 36707617 C A
line802 nonsynonymous SNV STAC2:NM_198993:exon1:c.G7A:p.E3K, 17 37381749 37381749 C T
line803 nonsynonymous SNV ERBB2:NM_001005862:exon29:c.G3292A:p.V1098I,ERBB2:NM_004448:exon26:c.G3382A:p.V1128I, 17 37883770 37883770 G A
line804 nonsynonymous SNV KRT25:NM_181534:exon4:c.G826A:p.E276K, 17 38907422 38907422 C T
line805 nonsynonymous SNV KRT20:NM_019010:exon4:c.C665T:p.T222I, 17 39036479 39036479 G A
line806 nonsynonymous SNV KRT15:NM_002275:exon2:c.T500A:p.I167N, 17 39673416 39673416 A T
line807 synonymous SNV WNK4:NM_032387:exon13:c.C2325T:p.P775P, 17 40946661 40946661 C T
line808 nonsynonymous SNV EFTUD2:NM_001258354:exon14:c.G1191C:p.E397D,EFTUD2:NM_004247:exon14:c.G1221C:p.E407D,EFTUD2:NM_001142605:exon13:c.G1116C:p.E372D,EFTUD2:NM_001258353:exon14:c.G1221C:p.E407D, 17 42942362 42942362 C G
line809 synonymous SNV SP2:NM_003110:exon4:c.C1371T:p.G457G, 17 46000639 46000639 C T
line810 synonymous SNV MRPL27:NM_016504:exon4:c.C393T:p.V131V, 17 48445507 48445507 G A
line811 nonsynonymous SNV SPAG9:NM_001130527:exon29:c.G3755A:p.S1252N,SPAG9:NM_001251971:exon26:c.G3353A:p.S1118N,SPAG9:NM_001130528:exon29:c.G3785A:p.S1262N,SPAG9:NM_003971:exon28:c.G3743A:p.S1248N, 17 49048133 49048133 C T
line812 nonsynonymous SNV CA10:NM_020178:exon2:c.C126A:p.S42R,CA10:NM_001082533:exon3:c.C126A:p.S42R,CA10:NM_001082534:exon3:c.C126A:p.S42R, 17 50149689 50149689 G T
line813 nonsynonymous SNV BZRAP1:NM_024418:exon26:c.C5075G:p.P1692R,BZRAP1:NM_001261835:exon27:c.C5228G:p.P1743R,BZRAP1:NM_004758:exon27:c.C5255G:p.P1752R, 17 56383196 56383196 G C
line814 nonsynonymous SNV MRC2:NM_006039:exon2:c.A427C:p.K143Q, 17 60742217 60742217 A C
line815 nonsynonymous SNV TANC2:NM_025185:exon13:c.C2381T:p.A794V, 17 61457099 61457099 C T
line816 nonsynonymous SNV KCNH6:NM_030779:exon7:c.G1666T:p.A556S,KCNH6:NM_173092:exon8:c.G1507T:p.A503S, 17 61615590 61615590 G T
line817 nonsynonymous SNV CCDC47:NM_020198:exon8:c.T884C:p.L295P, 17 61833664 61833664 A G
line818 synonymous SNV FAM20A:NM_001243746:exon8:c.G525A:p.V175V,FAM20A:NM_017565:exon7:c.G939A:p.V313V, 17 66538296 66538296 C T
line819 nonsynonymous SNV SLC9A3R1:NM_004252:exon2:c.A484G:p.S162G, 17 72758193 72758193 A G
line820 nonsynonymous SNV LLGL2:NM_004524:exon7:c.C664T:p.R222C,LLGL2:NM_001031803:exon7:c.C664T:p.R222C,LLGL2:NM_001015002:exon7:c.C664T:p.R222C, 17 73559230 73559230 C T
line821 synonymous SNV UBE2O:NM_022066:exon18:c.C3240T:p.N1080N, 17 74387663 74387663 G A
line822 nonsynonymous SNV TNRC6C:NM_018996:exon14:c.C3676G:p.L1226V,TNRC6C:NM_001142640:exon14:c.C3667G:p.L1223V, 17 76083048 76083048 C G
line823 synonymous SNV LGALS3BP:NM_005567:exon6:c.C1701T:p.N567N, 17 76967715 76967715 G A
line824 nonsynonymous SNV CBX8:NM_020649:exon5:c.C329T:p.S110L, 17 77769275 77769275 G A
line825 nonsynonymous SNV BAIAP2:NM_017451:exon12:c.C1458G:p.F486L,BAIAP2:NM_001144888:exon12:c.C1458G:p.F486L,BAIAP2:NM_017450:exon12:c.C1458G:p.F486L,BAIAP2:NM_006340:exon12:c.C1458G:p.F486L, 17 79080665 79080665 C G
line826 nonframeshift substitution BAIAP2:NM_001144888:exon14:c.1592_1595C, 17 79089626 79089629 CCCT C
line827 nonsynonymous SNV MYADML2:NM_001145113:exon3:c.T608C:p.L203P, 17 79899010 79899010 A G
line828 nonsynonymous SNV FN3KRP:NM_024619:exon2:c.A193G:p.T65A, 17 80676833 80676833 A G
line829 nonsynonymous SNV SMAD7:NM_001190821:exon2:c.C643G:p.P215A,SMAD7:NM_005904:exon2:c.C643G:p.P215A, 18 46474778 46474778 G C
line830 nonsynonymous SNV ZNF532:NM_018181:exon11:c.C3479T:p.T1160I, 18 56651271 56651271 C T
line831 synonymous SNV KDSR:NM_002035:exon6:c.C447T:p.S149S, 18 61018283 61018283 G A
line832 synonymous SNV SERPINB8:NM_001031848:exon2:c.T55C:p.L19L,SERPINB8:NM_002640:exon2:c.T55C:p.L19L,SERPINB8:NM_198833:exon2:c.T55C:p.L19L, 18 61645597 61645597 T C
line833 frameshift substitution ZNF407:NM_017757:exon8:c.6107_6107delinsAG, 18 72775784 72775784 A AG
line834 nonsynonymous SNV AP3D1:NM_003938:exon16:c.C1815G:p.N605K,AP3D1:NM_001261826:exon16:c.C1815G:p.N605K, 19 2117265 2117265 G C
line835 nonsynonymous SNV ZNF77:NM_021217:exon4:c.C769T:p.R257W, 19 2934356 2934356 G A
line836 nonsynonymous SNV TBXA2R:NM_001060:exon2:c.G368C:p.G123A,TBXA2R:NM_201636:exon2:c.G368C:p.G123A, 19 3600265 3600265 C G
line837 nonsynonymous SNV SAFB2:NM_014649:exon13:c.G1740T:p.E580D, 19 5598846 5598846 C A
line838 synonymous SNV LONP1:NM_004793:exon11:c.A1746T:p.P582P, 19 5696708 5696708 C A
line839 synonymous SNV SLC25A23:NM_024103:exon2:c.C192T:p.G64G, 19 6458300 6458300 G A
line840 nonsynonymous SNV EMR1:NM_001256254:exon5:c.A452T:p.Y151F,EMR1:NM_001974:exon8:c.A875T:p.Y292F,EMR1:NM_001256252:exon7:c.A719T:p.Y240F,EMR1:NM_001256253:exon8:c.A875T:p.Y292F, 19 6904119 6904119 A T
line841 nonsynonymous SNV EVI5L:NM_001159944:exon3:c.G544A:p.V182I,EVI5L:NM_145245:exon4:c.G544A:p.V182I, 19 7914023 7914023 G A
line842 nonsynonymous SNV ADAMTS10:NM_030957:exon13:c.G1549A:p.E517K, 19 8657685 8657685 C T
line843 nonsynonymous SNV ZNF426:NM_024106:exon7:c.G326A:p.G109E, 19 9641743 9641743 C T
line844 synonymous SNV OLFM2:NM_058164:exon4:c.T477C:p.S159S, 19 9968042 9968042 A G
line845 synonymous SNV MAST1:NM_014975:exon22:c.G2973A:p.T991T, 19 12980079 12980079 G A
line846 nonsynonymous SNV FARSA:NM_004461:exon11:c.G1255C:p.V419L, 19 13035281 13035281 C G
line847 nonsynonymous SNV IER2:NM_004907:exon2:c.C208G:p.R70G, 19 13264208 13264208 C G
line848 nonsynonymous SNV ILVBL:NM_006844:exon9:c.G965A:p.R322Q, 19 15230063 15230063 C T
line849 nonsynonymous SNV WIZ:NM_021241:exon5:c.C1144T:p.R382C, 19 15536517 15536517 G A
line850 nonsynonymous SNV HAUS8:NM_001011699:exon11:c.C1201G:p.L401V,HAUS8:NM_033417:exon11:c.C1204G:p.L402V, 19 17160712 17160712 G C
line851 frameshift substitution GTPBP3:NM_032620:exon7:c.836_836delinsCGG,GTPBP3:NM_001128855:exon7:c.836_836delinsCGG,GTPBP3:NM_133644:exon6:c.932_932delinsCGG,GTPBP3:NM_001195422:exon7:c.902_902delinsCGG, 19 17450270 17450270 C CGG
line852 nonsynonymous SNV UNC13A:NM_001080421:exon31:c.G3768A:p.M1256I, 19 17738735 17738735 C T
line853 nonsynonymous SNV KXD1:NM_001171949:exon2:c.C17T:p.S6L,KXD1:NM_001171948:exon3:c.C17T:p.S6L,KXD1:NM_024069:exon2:c.C17T:p.S6L, 19 18672883 18672883 C T
line854 nonsynonymous SNV ZNF536:NM_014717:exon2:c.G1139T:p.R380L, 19 30935608 30935608 G T
line855 synonymous SNV USF2:NM_003367:exon3:c.G171A:p.A57A,USF2:NM_207291:exon3:c.G171A:p.A57A, 19 35760545 35760545 G A
line856 synonymous SNV ARHGAP33:NM_052948:exon20:c.C2067T:p.D689D,ARHGAP33:NM_001172630:exon19:c.C2142T:p.D714D, 19 36277922 36277922 C T
line857 stopgain SNV ZNF607:NM_032689:exon5:c.G1852T:p.E618X,ZNF607:NM_001172677:exon5:c.G1849T:p.E617X, 19 38189180 38189180 C A
line858 nonsynonymous SNV MED29:NM_017592:exon1:c.C167T:p.P56L, 19 39882166 39882166 C T
line859 nonsynonymous SNV SHKBP1:NM_138392:exon16:c.C1658G:p.S553C, 19 41096218 41096218 C G
line860 nonsynonymous SNV AXL:NM_021913:exon16:c.T1858G:p.L620V,AXL:NM_001699:exon15:c.T1831G:p.L611V, 19 41758804 41758804 T G
line861 nonsynonymous SNV ERF:NM_006494:exon4:c.G1460A:p.R487H, 19 42752804 42752804 C T
line862 nonsynonymous SNV CIC:NM_015125:exon6:c.A791G:p.H264R, 19 42791987 42791987 A G
line864 synonymous SNV PPP1R13L:NM_001142502:exon4:c.G387A:p.P129P,PPP1R13L:NM_006663:exon4:c.G387A:p.P129P, 19 45900128 45900128 C T
line865 nonsynonymous SNV ALDH16A1:NM_153329:exon15:c.A2068G:p.T690A,ALDH16A1:NM_001145396:exon14:c.A1915G:p.T639A, 19 49971767 49971767 A G
line866 nonsynonymous SNV TSKS:NM_021733:exon1:c.C5T:p.A2V, 19 50266500 50266500 G A
line867 frameshift substitution SHANK1:NM_016148:exon22:c.3547_3547delinsCA, 19 51171670 51171670 T TG
line868 synonymous SNV FPR2:NM_001462:exon2:c.A993G:p.P331P,FPR2:NM_001005738:exon2:c.A993G:p.P331P, 19 52272904 52272904 A G
line869 nonsynonymous SNV LENG1:NM_024316:exon3:c.G427A:p.G143S, 19 54660649 54660649 C T
line870 nonsynonymous SNV BRSK1:NM_032430:exon2:c.G137A:p.G46E, 19 55798375 55798375 G A
line871 synonymous SNV ZIM2:NM_001146327:exon6:c.G114C:p.R38R,ZIM2:NM_015363:exon5:c.G114C:p.R38R,PEG3:NM_001146187:exon5:c.G114C:p.R38R,PEG3:NM_001146185:exon5:c.G111C:p.R37R,ZIM2:NM_001146326:exon6:c.G114C:p.R38R,PEG3:NM_001146186:exon3:c.G489C:p.R163R,PEG3:NM_006210:exon6:c.G489C:p.R163R,PEG3:NM_001146184:exon5:c.G489C:p.R163R, 19 57334197 57334197 C G
line872 nonsynonymous SNV ZNF551:NM_001270938:exon3:c.A869G:p.H290R,ZNF551:NM_138347:exon3:c.A953G:p.H318R, 19 58198596 58198596 A G
line873 nonsynonymous SNV ZBTB45:NM_032792:exon2:c.G805A:p.G269R, 19 59028236 59028236 C T
line874 nonsynonymous SNV CHMP2A:NM_014453:exon3:c.G309A:p.M103I,CHMP2A:NM_198426:exon3:c.G309A:p.M103I, 19 59063665 59063665 C T
line875 stopgain SNV MGME1:NM_052865:exon4:c.A757T:p.K253X, 20 17968834 17968834 A T
line876 nonsynonymous SNV ZNF133:NM_003434:exon7:c.G1144A:p.A382T,ZNF133:NM_001083330:exon4:c.G1144A:p.A382T, 20 18296642 18296642 G A
line877 nonsynonymous SNV ABHD12:NM_015600:exon7:c.C641T:p.T214M,ABHD12:NM_001042472:exon7:c.C641T:p.T214M, 20 25290190 25290190 G A
line878 nonsynonymous SNV DUSP15:NM_001012644:exon6:c.C11A:p.T4K,DUSP15:NM_080611:exon6:c.C320A:p.T107K,DUSP15:NM_177991:exon6:c.C11A:p.T4K, 20 30450489 30450489 G T
line879 nonsynonymous SNV ASXL1:NM_015338:exon12:c.C3800A:p.T1267N, 20 31024315 31024315 C A
line880 synonymous SNV SNTA1:NM_003098:exon6:c.A1236G:p.T412T, 20 31997942 31997942 T C
line881 synonymous SNV CBFA2T2:NM_001039709:exon10:c.C1290T:p.A430A,CBFA2T2:NM_001032999:exon10:c.C1350T:p.A450A,CBFA2T2:NM_005093:exon11:c.C1377T:p.A459A, 20 32228199 32228199 C T
line883 nonsynonymous SNV FAM83C:NM_178468:exon4:c.C1600G:p.L534V, 20 33874982 33874982 G C
line884 nonsynonymous SNV EPB41L1:NM_001258329:exon16:c.G1900A:p.E634K,EPB41L1:NM_012156:exon15:c.G1900A:p.E634K,EPB41L1:NM_177996:exon14:c.G1678A:p.E560K,EPB41L1:NM_001258331:exon14:c.G1678A:p.E560K, 20 34797641 34797641 G A
line885 nonsynonymous SNV TGM2:NM_004613:exon11:c.C1667T:p.T556M, 20 36760851 36760851 G A
line886 synonymous SNV KIAA1755:NM_001029864:exon13:c.C2709T:p.S903S, 20 36845847 36845847 G A
line887 synonymous SNV MAFB:NM_005461:exon1:c.C387T:p.G129G, 20 39317104 39317104 G A
line888 synonymous SNV UBE2C:NM_181799:exon4:c.C349T:p.L117L, 20 44444161 44444161 C T
line889 nonsynonymous SNV SULF2:NM_018837:exon11:c.G1549A:p.G517R,SULF2:NM_001161841:exon11:c.G1549A:p.G517R,SULF2:NM_198596:exon11:c.G1549A:p.G517R, 20 46300969 46300969 C T
line890 nonsynonymous SNV DPM1:NM_003859:exon9:c.A685G:p.I229V, 20 49551767 49551767 T C
line891 nonsynonymous SNV TSHZ2:NM_001193421:exon2:c.G2909A:p.R970Q,TSHZ2:NM_173485:exon2:c.G2918A:p.R973Q, 20 51872915 51872915 G A
line892 synonymous SNV GNAS:NM_001077489:exon1:c.C42T:p.N14N,GNAS:NM_000516:exon1:c.C42T:p.N14N,GNAS:NM_001077488:exon1:c.C42T:p.N14N,GNAS:NM_080426:exon1:c.C42T:p.N14N, 20 57466823 57466823 C T
line893 nonsynonymous SNV SLMO2:NM_001256403:exon4:c.T356C:p.I119T,SLMO2:NM_016045:exon5:c.T446C:p.I149T, 20 57611545 57611545 A G
line894 nonsynonymous SNV C20orf197:NM_173644:exon4:c.G368A:p.R123H, 20 58645950 58645950 G A
line895 nonsynonymous SNV GTPBP5:NM_015666:exon7:c.C1112T:p.S371L, 20 60776024 60776024 C T
line896 nonsynonymous SNV ADAMTS1:NM_006988:exon3:c.C1142T:p.P381L, 21 28214245 28214245 G A
line897 nonsynonymous SNV URB1:NM_014825:exon38:c.G6611A:p.S2204N, 21 33688800 33688800 C T
line898 nonsynonymous SNV IFNAR2:NM_207584:exon7:c.A586C:p.I196L,IFNAR2:NM_207585:exon7:c.A586C:p.I196L,IFNAR2:NM_000874:exon7:c.A586C:p.I196L, 21 34625012 34625012 A C
line899 nonsynonymous SNV SON:NM_138927:exon3:c.G3956C:p.G1319A,SON:NM_032195:exon3:c.G3956C:p.G1319A, 21 34925493 34925493 G C
line900 stopgain SNV ITSN1:NM_001001132:exon12:c.C1102T:p.R368X,ITSN1:NM_003024:exon12:c.C1102T:p.R368X, 21 35144424 35144424 C T
line901 synonymous SNV DSCAM:NM_001389:exon26:c.G4662A:p.A1554A,DSCAM:NM_001271534:exon26:c.G4662A:p.A1554A, 21 41450663 41450663 C T
line902 nonsynonymous SNV TSPEAR:NM_144991:exon11:c.G1826A:p.R609H,TSPEAR:NM_001272037:exon12:c.G1622A:p.R541H, 21 45924693 45924693 C T
line903 synonymous SNV TSPEAR:NM_144991:exon7:c.C1056T:p.A352A,TSPEAR:NM_001272037:exon8:c.C852T:p.A284A, 21 45947268 45947268 G A
line904 synonymous SNV KRTAP10-3:NM_198696:exon1:c.T42C:p.S14S, 21 45978557 45978557 A G
line905 nonsynonymous SNV COL6A2:NM_001849:exon17:c.G1450A:p.G484R,COL6A2:NM_058175:exon17:c.G1450A:p.G484R,COL6A2:NM_058174:exon17:c.G1450A:p.G484R, 21 47541029 47541029 G A
line906 nonsynonymous SNV PCNT:NM_006031:exon28:c.C5563G:p.R1855G, 21 47831550 47831550 C G
line907 nonsynonymous SNV CCT8L2:NM_014406:exon1:c.C773G:p.T258R, 22 17072668 17072668 G C
line908 synonymous SNV LZTR1:NM_006767:exon21:c.C2475T:p.A825A, 22 21351589 21351589 C T
line909 frameshift substitution MIF:NM_002415:exon1:c.28_28delinsGT, 22 24236689 24236689 G GT
line910 nonsynonymous SNV CABIN1:NM_012295:exon20:c.C2903T:p.A968V,CABIN1:NM_001199281:exon20:c.C2903T:p.A968V,CABIN1:NM_001201429:exon19:c.C2753T:p.A918V, 22 24479335 24479335 C T
line911 nonsynonymous SNV MYO18B:NM_032608:exon28:c.C4603T:p.R1535C, 22 26291182 26291182 C T
line912 stopgain SNV TTC28:NM_001145418:exon9:c.G3322T:p.E1108X, 22 28497254 28497254 C A
line913 nonsynonymous SNV EIF4ENIF1:NM_001164501:exon13:c.C1805A:p.P602Q,EIF4ENIF1:NM_001164502:exon11:c.C1280A:p.P427Q,EIF4ENIF1:NM_019843:exon13:c.C1805A:p.P602Q, 22 31844182 31844182 G T
line914 nonsynonymous SNV APOL5:NM_030642:exon3:c.G617A:p.G206E, 22 36122732 36122732 G A
line915 nonsynonymous SNV MYH9:NM_002473:exon29:c.G3853A:p.V1285M, 22 36689894 36689894 C T
line916 synonymous SNV MYH9:NM_002473:exon11:c.C1131T:p.L377L, 22 36714348 36714348 G A
line917 nonsynonymous SNV EP300:NM_001429:exon14:c.C2656G:p.P886A, 22 41546041 41546041 C G
line918 synonymous SNV C22orf32:NM_033318:exon1:c.C156T:p.R52R, 22 42475928 42475928 C T
line919 synonymous SNV CELSR1:NM_014246:exon2:c.C3909T:p.D1303D, 22 46859878 46859878 G A
line920 nonsynonymous SNV CERK:NM_022766:exon5:c.A566G:p.D189G, 22 47106986 47106986 T C
line921 synonymous SNV DENND6B:NM_001001794:exon14:c.C1149T:p.T383T, 22 50752297 50752297 G A
line922 nonsynonymous SNV ARSE:NM_000047:exon6:c.T647A:p.L216H, X 2867552 2867552 A T
line923 nonsynonymous SNV TLR7:NM_016562:exon3:c.C886T:p.R296C, X 12904513 12904513 C T
line924 nonsynonymous SNV DMD:NM_004010:exon9:c.C525G:p.S175R,DMD:NM_004006:exon9:c.C894G:p.S298R,DMD:NM_004007:exon8:c.C525G:p.S175R,DMD:NM_004009:exon9:c.C882G:p.S294R,DMD:NM_000109:exon9:c.C870G:p.S290R, X 32716053 32716053 G C
line925 nonsynonymous SNV TSPYL2:NM_022117:exon2:c.G866A:p.R289H, X 53113785 53113785 G A
line926 nonsynonymous SNV HUWE1:NM_031407:exon82:c.C12709T:p.R4237C, X 53561599 53561599 G A
line927 nonsynonymous SNV HUWE1:NM_031407:exon14:c.C977G:p.A326G, X 53655840 53655840 G C
line928 frameshift substitution NAP1L2:NM_021963:exon1:c.225_226G, X 72434103 72434104 CT C
line929 nonsynonymous SNV MAGT1:NM_032121:exon1:c.T155A:p.I52N, X 77150849 77150849 A T
line930 nonsynonymous SNV NXF3:NM_022052:exon9:c.T835C:p.C279R, X 102337238 102337238 A G
line931 synonymous SNV MUM1L1:NM_001171020:exon4:c.G225A:p.E75E,MUM1L1:NM_152423:exon5:c.G225A:p.E75E, X 105449650 105449650 G A
line932 nonsynonymous SNV ACSL4:NM_022977:exon15:c.C1708T:p.R570C,ACSL4:NM_004458:exon14:c.C1585T:p.R529C, X 108904872 108904872 G A
line933 nonsynonymous SNV HTATSF1:NM_001163280:exon3:c.G251A:p.S84N,HTATSF1:NM_014500:exon2:c.G251A:p.S84N, X 135581821 135581821 G A
line934 synonymous SNV MLL2:NM_003482:exon48:c.C15079A:p.R5027R, 12 49420670 49420670 C T
line935 nonsynonymous SNV VPS13D:NM_015378:exon8:c.C778T:p.R260W,VPS13D:NM_018156:exon8:c.C778T:p.R260W, 1 12316498 12316498 C T
line936 nonsynonymous SNV LRP5:NM_002335:exon19:c.T4063C:p.C1355R, 11 68204419 68204419 T C
line937 nonsynonymous SNV HUWE1:NM_031407:exon16:c.G1297T:p.V433F, X 53654776 53654776 G A
line938 nonsynonymous SNV CHD8:NM_001170629:exon33:c.C6518T:p.S2173L,CHD8:NM_020920:exon34:c.C5681T:p.S1894L, 14 21860919 21860919 C A
line939 synonymous SNV CAMTA1:NM_015215:exon20:c.A4872G:p.Q1624Q, 1 7811441 7811441 A G
line940 stopgain SNV AUTS2:NM_001127232:exon2:c.C454T:p.R152X,AUTS2:NM_015570:exon2:c.C454T:p.R152X,AUTS2:NM_001127231:exon2:c.C454T:p.R152X, 7 69364416 69364416 C T
line941 nonsynonymous SNV LLGL1:NM_004140:exon4:c.G313A:p.V105I, 17 18136037 18136037 G A
line942 nonsynonymous SNV TRAPPC9:NM_031466:exon20:c.G3203T:p.R1068L,TRAPPC9:NM_001160372:exon20:c.G2909T:p.R970L, 8 140922446 140922446 G A
line943 nonsynonymous SNV MKL2:NM_014048:exon12:c.G1286A:p.R429H, 16 14340403 14340403 G A
line944 synonymous SNV NUP98:NM_016320:exon32:c.G5171G:p.R1724R,NUP98:NM_139132:exon31:c.G4949G:p.R1650R, 11 3697753 3697753 G C
line945 synonymous SNV DAPK1:NM_004938:exon21:c.C2400T:p.N800N, 9 90301641 90301641 C T
line946 synonymous SNV PTK2B:NM_173176:exon25:c.C2484T:p.S828S,PTK2B:NM_173174:exon30:c.C2484T:p.S828S,PTK2B:NM_004103:exon26:c.C2484T:p.S828S,PTK2B:NM_173175:exon24:c.C2358T:p.S786S, 8 27308409 27308409 C T
line947 synonymous SNV PITPNM1:NM_004910:exon6:c.C835A:p.R279R,PITPNM1:NM_001130848:exon6:c.C835A:p.R279R, 11 67267698 67267698 C T
line948 nonsynonymous SNV SEC31A:NM_001077207:exon20:c.C2407A:p.P803T,SEC31A:NM_001077208:exon20:c.C2407A:p.P803T,SEC31A:NM_014933:exon20:c.C2407A:p.P803T,SEC31A:NM_016211:exon18:c.C2290A:p.P764T,SEC31A:NM_001191049:exon19:c.C2392A:p.P798T,SEC31A:NM_001077206:exon20:c.C2407A:p.P803T, 4 83770052 83770052 C T
line949 nonsynonymous SNV SEC31A:NM_001077207:exon20:c.C2408T:p.P803L,SEC31A:NM_001077208:exon20:c.C2408T:p.P803L,SEC31A:NM_014933:exon20:c.C2408T:p.P803L,SEC31A:NM_016211:exon18:c.C2291T:p.P764L,SEC31A:NM_001191049:exon19:c.C2393T:p.P798L,SEC31A:NM_001077206:exon20:c.C2408T:p.P803L, 4 83770051 83770051 C A
line950 nonsynonymous SNV INTS5:NM_030628:exon2:c.G2836A:p.V946I, 11 62414716 62414716 G T
line951 synonymous SNV RBP3:NM_002900:exon1:c.G509G:p.R170R, 10 48390369 48390369 G C
line952 nonsynonymous SNV MECP2:NM_001110792:exon3:c.C604A:p.R202S,MECP2:NM_004992:exon4:c.C568A:p.R190S, X 153296711 153296711 C T
line953 synonymous SNV ARNT2:NM_014862:exon17:c.C1863G:p.T621T, 15 80873690 80873690 C G
line954 nonsynonymous SNV PLEKHH2:NM_172069:exon19:c.G2908A:p.E970K, 2 43958706 43958706 G A
line955 nonsynonymous SNV XPNPEP1:NM_001167604:exon10:c.A1039G:p.K347E,XPNPEP1:NM_020383:exon10:c.A1039G:p.K347E, 10 111642192 111642192 A C
line956 synonymous SNV C15orf26:NM_173528:exon7:c.T765C:p.H255H, 15 81440733 81440733 T C
line957 nonsynonymous SNV CRISP1:NM_001205220:exon4:c.A248G:p.D83G,CRISP1:NM_001131:exon4:c.A248G:p.D83G,CRISP1:NM_170609:exon4:c.A248G:p.D83G, 6 49815960 49815960 A C
line958 nonsynonymous SNV TFCP2L1:NM_014553:exon7:c.G670A:p.D224N, 2 122000033 122000033 G T
line959 stopgain SNV TEK:NM_000459:exon12:c.G1870T:p.E624X, 9 27197558 27197558 G T
line960 nonsynonymous SNV SLC3A2:NM_001012662:exon1:c.C46A:p.P16T,SLC3A2:NM_001012664:exon1:c.C46A:p.P16T,SLC3A2:NM_002394:exon1:c.C46A:p.P16T, 11 62623787 62623787 C A
line961 nonsynonymous SNV PPM1E:NM_014906:exon7:c.T1918C:p.Y640H, 17 57058042 57058042 T C
line962 synonymous SNV RAI14:NM_001145521:exon3:c.G18A:p.A6A,RAI14:NM_015577:exon2:c.G18A:p.A6A,RAI14:NM_001145522:exon2:c.G18A:p.A6A,RAI14:NM_001145520:exon2:c.G18A:p.A6A, 5 34687042 34687042 G A
line964 nonsynonymous SNV LDLRAD3:NM_174902:exon5:c.T476C:p.F159S, 11 36248656 36248656 T C
line965 nonsynonymous SNV HPDL:NM_032756:exon1:c.G733A:p.E245K, 1 45793553 45793553 G A
line966 frameshift insertion SYT9:NM_175733:exon3:c.627_628insAA:p.D209fs, 11 7334755 7334755 - AA
line967 nonsynonymous SNV CEP120:NM_001166226:exon2:c.A119C:p.H40P,CEP120:NM_153223:exon3:c.A197C:p.H66P, 5 122754062 122754062 A G
line968 synonymous SNV CPLX3:NM_001030005:exon3:c.G462A:p.K154K, 15 75122680 75122680 G A
line969 synonymous SNV DYRK3:NM_003582:exon3:c.A363G:p.S121S,DYRK3:NM_001004023:exon4:c.A303G:p.S101S, 1 206820906 206820906 A G
line971 nonsynonymous SNV SLC7A11:NM_014331:exon8:c.T1004C:p.V335A, 4 139104371 139104371 T G
line972 synonymous SNV ARMC9:NM_025139:exon8:c.T726C:p.I242I, 2 232100040 232100040 T C
line974 synonymous SNV TSPAN16:NM_012466:exon5:c.T555C:p.S185S, 19 11417384 11417384 T C
line975 nonsynonymous SNV SERPINA5:NM_000624:exon6:c.G1147A:p.V383M, 14 95058502 95058502 G A
line976 nonsynonymous SNV TDRD5:NM_001199085:exon2:c.G212A:p.G71D,TDRD5:NM_001199089:exon2:c.G212A:p.G71D,TDRD5:NM_001199091:exon2:c.G212A:p.G71D,TDRD5:NM_173533:exon2:c.G212A:p.G71D, 1 179561962 179561962 G A
line977 nonsynonymous SNV AVEN:NM_020371:exon2:c.G418T:p.D140Y, 15 34295260 34295260 G A
line978 nonsynonymous SNV OR56B1:NM_001005180:exon1:c.G793A:p.V265I, 11 5758539 5758539 G A
line979 nonsynonymous SNV KIF25:NM_030615:exon7:c.C809T:p.S270L,KIF25:NM_005355:exon7:c.C809T:p.S270L, 6 168442811 168442811 C T
line980 nonsynonymous SNV TTN:NM_133432:exon164:c.G63747T:p.L21249F,TTN:NM_001256850:exon285:c.G85644T:p.L28548F,TTN:NM_003319:exon163:c.G63372T:p.L21124F,TTN:NM_133437:exon164:c.G63948T:p.L21316F,TTN:NM_133378:exon284:c.G82863T:p.L27621F,TTN:NM_001267550:exon335:c.G90567T:p.L30189F, 2 179417060 179417060 G A
line981 nonsynonymous SNV MAN2B2:NM_015274:exon4:c.C562T:p.R188W, 4 6588893 6588893 C T
line982 synonymous SNV GPR98:NM_032119:exon7:c.T1065C:p.A355A, 5 89923420 89923420 T C
line983 unknown UNKNOWN 17 79412661 79412661 T C
line984 nonsynonymous SNV PIEZO2:NM_022068:exon44:c.G6977T:p.S2326I, 18 10691256 10691256 G A
line985 unknown UNKNOWN 8 48868449 48868449 G A
line986 frameshift insertion TNFRSF13C:NM_052945:exon3:c.534_535insGTCTT:p.T178fs, 22 42321392 42321392 - AAGAC
line987 nonsynonymous SNV TECTA:NM_005422:exon13:c.C4497G:p.D1499E, 11 121028741 121028741 C G
line988 synonymous SNV LRP1B:NM_018557:exon57:c.G9072G:p.E3024E, 2 141250225 141250225 G C
line989 nonsynonymous SNV AP3D1:NM_003938:exon9:c.C854A:p.A285E,AP3D1:NM_001261826:exon9:c.C854A:p.A285E, 19 2127153 2127153 C T
line990 nonsynonymous SNV PER1:NM_002616:exon6:c.G749T:p.R250L, 17 8052884 8052884 G A
line991 nonsynonymous SNV PLCD4:NM_032726:exon11:c.A1558G:p.I520V, 2 219498436 219498436 A G
line992 nonsynonymous SNV NHS:NM_198270:exon6:c.G1801A:p.D601N,NHS:NM_001136024:exon7:c.G1333A:p.D445N, X 17744090 17744090 G A
line993 synonymous SNV NCAPD3:NM_015261:exon28:c.A3610A:p.I1204I, 11 134031750 134031750 A T
line994 nonsynonymous SNV PRTG:NM_173814:exon10:c.C1784A:p.T595N, 15 55965637 55965637 C T
line995 synonymous SNV SLC13A1:NM_022444:exon11:c.A1200C:p.P400P, 7 122765663 122765663 A G
line996 synonymous SNV ABCC3:NM_003786:exon27:c.G3810C:p.A1270A, 17 48760973 48760973 G C
line997 nonsynonymous SNV FBN3:NM_032447:exon7:c.G856T:p.A286S, 19 8206610 8206610 G A
line998 nonsynonymous SNV IRX1:NM_024337:exon4:c.C1411G:p.P471A, 5 3601122 3601122 C G