Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-16355638-T-A | CLCNKA | c.1071T>A | p.His357Gln | Missense | 12/20 | - |
15-65756196-G-T | DPP8 | c.1874C>A | p.Thr625Asn | Missense | 15/18 | - |
12-132283582-G-T | SFSWAP | c.2718G>T | p.Arg906Ser | Missense | 17/18 | - |
10-121196335-G-C | GRK5 | c.911G>C | p.Arg304Pro | Missense | 9/16 | - |
10-121196335-G-A | GRK5 | c.911G>A | p.Arg304His | Missense | 9/16 | - |
19-41497272-A-T | CYP2B6 | c.62A>T | p.Gln21Leu | Missense | 1/9 | - |
14-105398392-G-C | PLD4 | c.1102G>C | p.Gly368Arg | Missense | 9/11 | - |
14-105398392-G-T | PLD4 | c.1102G>T | p.Gly368Cys | Missense | 9/11 | - |
7-100677988-T-A | MUC17 | c.3291T>A | p.Ser1097Arg | Missense | 3/13 | - |
17-3664361-T-C | ITGAE | c.544A>G | p.Lys182Glu | Missense | 6/31 | - |
16-336916-C-A | PDIA2 | c.1504C>A | p.Pro502Thr | Missense | 10/11 | - |
2-167108385-C-T | SCN9A | c.3329G>A | p.Arg1110Gln | Missense | 18/27 | - |
11-55111500-T-C | OR4A16 | c.824T>C | p.Ile275Thr | Missense | 1/1 | - |
12-94603406-G-C | PLXNC1 | c.1480G>C | p.Glu494Gln | Missense | 5/31 | - |
3-98188580-C-T | OR5K1 | c.160C>T | p.Arg54Trp | Missense | 1/1 | - |
12-132283582-G-C | SFSWAP | c.2718G>C | p.Arg906Ser | Missense | 17/18 | - |
15-34647875-T-G | NUTM1 | c.1582T>G | p.Ser528Ala | Missense | 8/8 | - |
11-4616062-C-T | OR52I1 | c.794C>T | p.Ala265Val | Missense | 1/1 | - |
8-108334162-G-T | ANGPT1 | c.770C>A | p.Thr257Lys | Missense | 4/9 | - |
19-44515074-C-A | ZNF230 | c.883C>A | p.Leu295Ile | Missense | 5/5 | - |
1-16384999-G-A | FAM131C | c.776C>T | p.Pro259Leu | Missense | 7/7 | - |
14-22102374-T-C | OR10G2 | c.625A>G | p.Arg209Gly | Missense | 1/1 | - |
2-85571458-C-T | RETSAT | c.1270G>A | p.Val424Ile | Missense | 8/11 | - |
3-49832788-G-A | CDHR4 | c.872C>T | p.Thr291Met | Missense | 8/19 | - |
18-8806925-A-G | MTCL1 | c.2471A>G | p.Lys824Arg | Missense | 11/17 | - |
7-100637338-G-A | MUC12 | c.3494G>A | p.Arg1165Gln | Missense | 2/12 | - |
4-66509085-T-G | EPHA5 | c.242A>C | p.Asn81Thr | Missense | 2/18 | - |
20-62701627-G-A | TCEA2 | c.451G>A | p.Val151Ile | Missense | 8/11 | - |
15-43724532-T-A | TP53BP1 | c.3535A>T | p.Ile1179Leu | Missense | 17/28 | - |
18-59713173-A-C | PIGN | c.2712T>G | p.Phe904Leu | Missense | 31/31 | - |
15-91424905-G-A | FURIN | c.2182G>A | p.Val728Ile | Missense | 16/16 | - |
19-40376880-T-C | FCGBP | c.11542A>G | p.Lys3848Glu | Missense | 24/36 | - |
19-40376880-T-G | FCGBP | c.11542A>C | p.Lys3848Gln | Missense | 24/36 | - |
1-89449298-C-T | KYAT3 | c.99+4637G>A | - | IntronicSNV | - | 2/13 |
5-110428085-C-T | WDR36 | c.99C>T | p.Asp33Asp | Synonymous | 1/23 | - |
9-113275227-C-T | SVEP1 | c.1282G>A | p.Gly428Ser | Missense | 5/48 | - |
3-195506446-G-A | MUC4 | c.12005C>T | p.Pro4002Leu | Missense | 2/25 | - |
6-52303361-G-T | EFHC1 | c.545G>T | p.Arg182Leu | Missense | 3/11 | - |
6-52303361-G-A | EFHC1 | c.545G>A | p.Arg182His | Missense | 3/11 | - |
11-130058437-G-A | ST14 | c.254G>A | p.Arg85His | Missense | 3/19 | - |
10-50819567-G-A | SLC18A3 | c.781G>A | p.Ala261Thr | Missense | 1/1 | - |
10-50819567-G-C | SLC18A3 | c.781G>C | p.Ala261Pro | Missense | 1/1 | - |
5-140627020-G-T | PCDHB15 | c.1874G>T | p.Arg625Leu | Missense | 1/1 | - |
5-140627020-G-A | PCDHB15 | c.1874G>A | p.Arg625His | Missense | 1/1 | - |
6-158923120-C-A | TULP4 | c.2425C>A | p.Pro809Thr | Missense | 13/14 | - |
19-40406029-C-T | FCGBP | c.4817G>A | p.Arg1606Gln | Missense | 10/36 | - |
5-176759170-C-G | LMAN2 | c.988G>C | p.Ala330Pro | Missense | 8/8 | - |
20-57597971-G-A | TUBB1 | c.129G>A | p.Gln43Gln | Synonymous | 2/4 | - |
6-152464786-G-C | SYNE1 | c.25091C>G | p.Pro8364Arg | Missense | 138/146 | - |
6-152464786-G-A | SYNE1 | c.25091C>T | p.Pro8364Leu | Missense | 138/146 | - |
10-135341012-C-G | CYP2E1 | c.113C>G | p.Pro38Arg | Missense | 1/9 | - |
10-135341012-C-T | CYP2E1 | c.113C>T | p.Pro38Leu | Missense | 1/9 | - |
11-1272167-C-G | MUC5B | c.14057C>G | p.Thr4686Arg | Missense | 31/49 | - |
3-195509573-A-G | MUC4 | c.8878T>C | p.Ser2960Pro | Missense | 2/25 | - |
17-16097825-T-G | NCOR1 | c.59A>C | p.Tyr20Ser | Missense | 2/46 | - |
9-33385690-G-A | AQP7 | c.700C>T | p.Arg234Cys | Missense | 7/8 | - |
19-12186921-T-C | ZNF844 | c.986T>C | p.Val329Ala | Missense | 4/4 | - |
2-31215798-C-T | GALNT14 | c.205G>A | p.Val69Ile | Missense | 2/15 | - |
10-50824106-C-G | CHAT | c.287-442C>G | - | IntronicSNV | - | 1/14 |
9-140773504-A-C | CACNA1B | c.285-2A>C | - | IntronicSNV | - | 1/46 |
5-140222157-A-T | PCDHA1 | c.2394+53888A>T | - | IntronicSNV | - | 1/3 |
5-140222157-A-C | PCDHA1 | c.2394+53888A>C | - | IntronicSNV | - | 1/3 |
11-120340060-A-G | ARHGEF12 | c.2918A>G | p.Tyr973Cys | Missense | 30/41 | - |
11-120340060-A-T | ARHGEF12 | c.2918A>T | p.Tyr973Phe | Missense | 30/41 | - |
1-92446927-G-A | BRDT | c.1853G>A | p.Arg618His | Missense | 11/19 | - |
16-70694056-C-G | IL34 | c.695C>G | p.Pro232Arg | Missense | 7/7 | - |
5-140476653-G-A | PCDHB2 | c.2279G>A | p.Gly760Asp | Missense | 1/1 | - |
14-105407525-G-A | AHNAK2 | c.14263C>T | p.Pro4755Ser | Missense | 7/7 | - |
2-130832292-T-A | POTEF | c.2753A>T | p.Tyr918Phe | Missense | 17/17 | - |
2-130832292-T-C | POTEF | c.2753A>G | p.Tyr918Cys | Missense | 17/17 | - |
22-18354783-T-G | MICAL3 | c.2248A>C | p.Met750Leu | Missense | 16/20 | - |
19-53116949-T-C | ZNF83 | c.869A>G | p.Lys290Arg | Missense | 3/3 | - |
16-70161263-T-C | PDPR | c.328T>C | p.Tyr110His | Missense | 4/19 | - |
1-12942119-C-T | PRAMEF4 | c.431G>A | p.Arg144Lys | Missense | 3/4 | - |
2-209302328-C-T | PTH2R | c.245C>T | p.Ser82Leu | Missense | 3/13 | - |
1-100661842-T-C | DBT | c.1418A>G | p.Asn473Ser | Missense | 11/11 | - |
17-18391003-G-A | LGALS9C | c.376G>A | p.Val126Met | Missense | 4/11 | - |
20-57597970-A-C | TUBB1 | c.128A>C | p.Gln43Pro | Missense | 2/4 | - |
7-100637338-G-C | MUC12 | c.3494G>C | p.Arg1165Pro | Missense | 2/12 | - |
15-73029268-A-T | BBS4 | c.1414A>T | p.Met472Leu | Missense | 15/16 | - |
5-177019262-C-G | TMED9 | c.47C>G | p.Thr16Ser | Missense | 1/5 | - |
2-179549131-C-T | TTN | c.28916G>A | p.Arg9639Lys | Missense | 129/312 | - |
5-167474474-A-G | TENM2 | c.1229A>G | p.Asp410Gly | Missense | 7/30 | - |
12-52682218-C-T | KRT81 | c.662G>A | p.Arg221His | Missense | 4/9 | - |
19-40519905-G-C | ZNF546 | c.728G>C | p.Arg243Thr | Missense | 7/7 | - |
3-195506747-C-T | MUC4 | c.11704G>A | p.Ala3902Thr | Missense | 2/25 | - |
19-43244485-G-T | PSG3 | c.52C>A | p.Leu18Ile | Missense | 1/7 | - |
15-73029268-A-G | BBS4 | c.1414A>G | p.Met472Val | Missense | 15/16 | - |
12-31237978-C-T | DDX11 | c.556C>T | p.Arg186Trp | Missense | 5/27 | - |
3-125648283-A-G | ALG1L | c.476T>C | p.Ile159Thr | Missense | 6/6 | - |
2-109276099-G-A | LIMS1 | c.35G>A | p.Arg12His | Missense | 2/10 | - |
3-124567186-G-A | ITGB5 | c.581C>T | p.Ala194Val | Missense | 4/15 | - |
6-32629920-C-T | HLA-DQB1 | c.485G>A | p.Arg162Gln | Missense | 3/5 | - |
20-36640870-C-A | TTI1 | c.1349G>T | p.Arg450Leu | Missense | 3/9 | - |
16-67685730-A-G | CARMIL2 | c.2570A>G | p.Asp857Gly | Missense | 25/38 | - |
16-67685730-A-C | CARMIL2 | c.2570A>C | p.Asp857Ala | Missense | 25/38 | - |
16-67685730-A-T | CARMIL2 | c.2570A>T | p.Asp857Val | Missense | 25/38 | - |
11-71498671-G-C | FAM86C1 | c.89G>C | p.Arg30Pro | Missense | 1/4 | - |
19-51602298-C-G | CTU1 | c.607G>C | p.Glu203Gln | Missense | 3/3 | - |
7-1024855-G-A | CYP2W1 | c.541G>A | p.Ala181Thr | Missense | 4/9 | - |
17-79225026-C-T | SLC38A10 | c.2332G>A | p.Ala778Thr | Missense | 14/14 | - |
17-79225056-T-A | SLC38A10 | c.2302A>T | p.Met768Leu | Missense | 14/14 | - |
17-79225056-T-C | SLC38A10 | c.2302A>G | p.Met768Val | Missense | 14/14 | - |
19-13411451-T-G | CACNA1A | c.2204A>C | p.Glu735Ala | Missense | 18/48 | - |
2-73438037-G-A | NOTO | c.736G>A | p.Glu246Lys | Missense | 3/3 | - |
22-19511925-G-A | CLDN5 | c.109C>T | p.Gln37* | Nonsense | 2/2 | - |
8-10467605-C-T | RP1L1 | c.4003G>A | p.Gly1335Arg | Missense | 4/4 | - |
7-100636461-C-T | MUC12 | c.2617C>T | p.Pro873Ser | Missense | 2/12 | - |
7-100636461-C-A | MUC12 | c.2617C>A | p.Pro873Thr | Missense | 2/12 | - |
5-174948943-C-T | SFXN1 | c.796C>T | p.Pro266Ser | Missense | 9/11 | - |
19-14952560-G-T | OR7A10 | c.130C>A | p.Leu44Ile | Missense | 1/1 | - |
20-61288593-G-A | SLCO4A1 | c.787G>A | p.Val263Ile | Missense | 2/12 | - |
16-1278745-C-T | TPSB2 | c.734G>A | p.Gly245Glu | Missense | 7/7 | - |
15-40544520-G-T | C15orf56 | c.452C>A | p.Pro151Gln | Missense | 2/2 | - |
15-40544520-G-C | C15orf56 | c.452C>G | p.Pro151Arg | Missense | 2/2 | - |
15-40544520-G-A | C15orf56 | c.452C>T | p.Pro151Leu | Missense | 2/2 | - |
8-10469030-G-A | RP1L1 | c.2578C>T | p.Arg860Trp | Missense | 4/4 | - |
11-7717233-G-A | OVCH2 | c.1166C>T | p.Pro389Leu | Missense | 11/16 | - |
13-31540447-C-A | TEX26 | c.558C>A | p.Tyr186* | Nonsense | 5/7 | - |
5-140559596-T-C | PCDHB8 | c.1981T>C | p.Leu661Leu | Synonymous | 1/1 | - |
1-145365372-C-G | NBPF10 | c.10216C>G | - | missense_variant | 82/86 | - |
19-991129-G-C | WDR18 | c.790G>C | p.Val264Leu | Missense | 6/10 | - |
13-21750534-G-A | SKA3 | c.83C>T | p.Ala28Val | Missense | 1/9 | - |
6-132909838-G-C | TAAR5 | c.988C>G | p.Arg330Gly | Missense | 1/1 | - |
6-26184102-G-A | HIST1H2BE | c.79G>A | p.Gly27Ser | Missense | 1/1 | - |
2-223339437-A-C | SGPP2 | c.370A>C | p.Ile124Leu | Missense | 2/5 | - |
9-98638273-C-T | ERCC6L2 | c.1-15C>T | - | 5-UTRSNV | 1/14 | - |
9-98638273-C-G | ERCC6L2 | c.1-15C>G | - | 5-UTRSNV | 1/14 | - |
1-16895586-T-C | NBPF1 | c.2596A>G | p.Met866Val | Missense | 23/28 | - |
19-7056571-G-T | MBD3L3 | c.389C>A | p.Ala130Asp | Missense | 2/2 | - |
14-64519709-A-T | SYNE2 | c.9078A>T | p.Glu3026Asp | Missense | 48/116 | - |
3-195506435-T-A | MUC4 | c.12016A>T | p.Thr4006Ser | Missense | 2/25 | - |
1-156646668-A-G | NES | c.389T>C | p.Val130Ala | Missense | 1/4 | - |
8-125463428-C-T | TRMT12 | c.260C>T | p.Thr87Met | Missense | 1/1 | - |
16-84256128-C-T | KCNG4 | c.1255G>A | p.Val419Met | Missense | 3/3 | - |
14-23845076-G-A | IL25 | c.521G>A | p.Arg174His | Missense | 2/2 | - |
19-17881605-A-G | FCHO1 | c.494A>G | p.Glu165Gly | Missense | 9/29 | - |
X-140993990-C-T | MAGEC1 | c.800C>T | p.Ser267Phe | Missense | 4/4 | - |
1-248722659-C-T | OR2T29 | c.134G>A | p.Gly45Glu | Missense | 1/1 | - |
17-40341909-G-A | GHDC | c.1405C>T | p.Arg469Cys | Missense | 10/10 | - |
17-40341909-G-T | GHDC | c.1405C>A | p.Arg469Ser | Missense | 10/10 | - |
8-144885597-G-C | SCRIB | c.3559C>G | p.Leu1187Val | Missense | 24/36 | - |
8-125463428-C-G | TRMT12 | c.260C>G | p.Thr87Arg | Missense | 1/1 | - |
20-2321163-C-A | TGM3 | c.2018C>A | p.Ala673Asp | Missense | 13/13 | - |
20-2321163-C-T | TGM3 | c.2018C>T | p.Ala673Val | Missense | 13/13 | - |
9-21228040-C-A | IFNA17 | c.133G>T | p.Gly45* | Nonsense | 1/1 | - |
9-21228040-C-G | IFNA17 | c.133G>C | p.Gly45Arg | Missense | 1/1 | - |
18-31326012-T-G | ASXL3 | c.6200T>G | p.Leu2067Arg | Missense | 12/12 | - |
5-110428085-C-G | WDR36 | c.99C>G | p.Asp33Glu | Missense | 1/23 | - |
4-186318414-T-G | ANKRD37 | c.138T>G | p.Phe46Leu | Missense | 2/5 | - |
7-28996904-T-C | TRIL | c.756A>G | - | synonymous_variant | 3/3 | - |
15-43819450-A-G | MAP1A | c.5779A>G | p.Lys1927Glu | Missense | 4/6 | - |
11-1269215-C-A | MUC5B | c.11105C>A | p.Thr3702Lys | Missense | 31/49 | - |
19-52034506-C-T | SIGLEC6 | c.335G>A | p.Arg112Gln | Missense | 2/8 | - |
7-128843396-G-A | SMO | c.503G>A | p.Arg168His | Missense | 2/12 | - |
11-121444958-A-G | SORL1 | c.3346A>G | p.Ile1116Val | Missense | 24/48 | - |
21-46396659-G-T | FAM207A | c.634G>T | p.Val212Leu | Missense | 6/6 | - |
21-46396659-G-C | FAM207A | c.634G>C | p.Val212Leu | Missense | 6/6 | - |
8-7308386-T-C | SPAG11B | c.*15A>G | - | 3-UTRSNV | 4/4 | - |
19-55105722-G-C | LILRA1 | c.13G>C | p.Val5Leu | Missense | 2/10 | - |
19-40392631-G-A | FCGBP | c.7873C>T | p.Pro2625Ser | Missense | 16/36 | - |
16-3254556-G-A | OR1F1 | c.310G>A | p.Val104Ile | Missense | 3/3 | - |
2-63220672-C-T | EHBP1 | c.2954C>T | p.Thr985Ile | Missense | 19/25 | - |
12-72068117-G-A | THAP2 | c.206G>A | p.Arg69Gln | Missense | 2/3 | - |
15-83502066-C-G | WHAMM | c.2208C>G | p.His736Gln | Missense | 10/10 | - |
3-52563199-A-T | NT5DC2 | c.273T>A | p.Ser91Arg | Missense | 2/14 | - |
18-9570592-A-G | PPP4R1 | c.1085T>C | p.Leu362Pro | Missense | 11/20 | - |
19-22155918-T-C | ZNF208 | c.1918A>G | p.Lys640Glu | Missense | 4/4 | - |
16-1859342-A-G | HAGH | c.869T>C | p.Val290Ala | Missense | 9/9 | - |
19-55105722-G-A | LILRA1 | c.13G>A | p.Val5Ile | Missense | 2/10 | - |
3-53857917-T-G | CHDH | c.119A>C | p.Glu40Ala | Missense | 3/9 | - |
7-100646199-T-C | MUC12 | c.12355T>C | p.Phe4119Leu | Missense | 2/12 | - |
16-67997920-T-C | SLC12A4 | c.116-458A>G | - | IntronicSNV | - | 1/23 |
4-70080139-C-G | UGT2B11 | c.302G>C | p.Arg101Pro | Missense | 1/6 | - |
9-110249816-G-C | KLF4 | c.859C>G | p.His287Asp | Missense | 3/5 | - |
9-136268952-G-A | STKLD1 | c.1603G>A | p.Gly535Ser | Missense | 15/18 | - |
15-43282285-C-T | UBR1 | c.3791G>A | p.Gly1264Glu | Missense | 34/47 | - |
2-153475663-C-T | FMNL2 | c.1618C>T | p.Pro540Ser | Missense | 14/26 | - |
11-55653617-A-C | TRIM51 | c.430A>C | p.Met144Leu | Missense | 3/7 | - |
10-129914025-C-T | MKI67 | c.647G>A | p.Gly216Glu | Missense | 7/15 | - |
10-111890151-C-G | ADD3 | c.1639C>G | p.Pro547Ala | Missense | 13/14 | - |
10-111890151-C-T | ADD3 | c.1639C>T | p.Pro547Ser | Missense | 13/14 | - |
2-160673519-G-A | LY75 | c.4178C>T | p.Thr1393Ile | Missense | 30/35 | - |
6-132859770-C-T | TAAR9 | c.342C>T | p.Ser114Ser | Synonymous | 1/1 | - |
2-160673519-G-C | LY75-CD302 | c.4178C>G | p.Thr1393Ser | Missense | 30/39 | - |
7-55902230-T-C | SEPT14 | c.608A>G | p.Asp203Gly | Missense | 6/10 | - |
17-39305820-C-A | KRTAP4-5 | c.200G>T | p.Arg67Leu | Missense | 1/1 | - |
22-50617691-T-C | PANX2 | c.2019T>C | p.Ser673Ser | Synonymous | 3/3 | - |
9-115933980-C-T | FKBP15 | c.2539G>A | p.Ala847Thr | Missense | 24/28 | - |
9-115933980-C-A | FKBP15 | c.2539G>T | p.Ala847Ser | Missense | 24/28 | - |
7-136935977-C-T | PTN | c.451G>A | p.Ala151Thr | Missense | 4/5 | - |
X-140994517-C-T | MAGEC1 | c.1327C>T | p.Leu443Phe | Missense | 4/4 | - |
2-107040372-C-G | RGPD3 | c.4051G>C | p.Glu1351Gln | Missense | 20/23 | - |
7-148288020-G-T | C7orf33 | c.3G>T | p.Met1Ile | Missense | 1/3 | - |
X-140994517-C-G | MAGEC1 | c.1327C>G | p.Leu443Val | Missense | 4/4 | - |
1-201754444-G-A | NAV1 | c.2811G>A | p.Gln937Gln | Synonymous | 8/30 | - |
6-135521495-G-A | MYB | c.1520G>A | p.Gly507Glu | Missense | 12/15 | - |
1-2938924-T-G | ACTRT2 | c.674T>G | p.Leu225Trp | Missense | 1/1 | - |
22-50724504-C-G | PLXNB2 | c.1901G>C | p.Arg634Pro | Missense | 10/37 | - |
19-4954757-G-A | UHRF1 | c.2051G>A | - | missense_variant | 16/18 | - |
22-50724504-C-T | PLXNB2 | c.1901G>A | p.Arg634His | Missense | 10/37 | - |
19-58723818-A-G | ZNF274 | c.1268A>G | - | missense_variant | 9/9 | - |
2-201485959-C-T | AOX1 | c.1991C>T | p.Ala664Val | Missense | 18/35 | - |
19-40406029-C-G | FCGBP | c.4817G>C | p.Arg1606Pro | Missense | 10/36 | - |
22-50877170-C-T | PPP6R2 | c.2026C>T | p.Pro676Ser | Missense | 18/23 | - |
22-50877170-C-A | PPP6R2 | c.2026C>A | p.Pro676Thr | Missense | 18/23 | - |
22-50877170-C-G | PPP6R2 | c.2026C>G | p.Pro676Ala | Missense | 18/23 | - |
X-46918243-T-C | JADE3 | c.2236T>C | p.Phe746Leu | Missense | 11/11 | - |
20-60878683-A-G | ADRM1 | c.59A>G | p.Asn20Ser | Missense | 2/9 | - |
5-176759170-C-T | LMAN2 | c.988G>A | p.Ala330Thr | Missense | 8/8 | - |
19-43433676-G-C | PSG7 | c.261C>G | p.Asn87Lys | Missense | 2/5 | - |
19-50381425-A-G | TBC1D17 | c.47A>G | p.Tyr16Cys | Missense | 2/17 | - |
2-241631717-T-C | AQP12A | c.350T>C | p.Met117Thr | Missense | 2/4 | - |
11-123909650-C-G | OR10G7 | c.59G>C | p.Gly20Ala | Missense | 1/1 | - |
17-37840860-G-A | PGAP3 | c.422C>T | p.Ala141Val | Missense | 3/8 | - |
11-123909650-C-T | OR10G7 | c.59G>A | p.Gly20Glu | Missense | 1/1 | - |
4-9783969-T-C | DRD5 | c.316T>C | p.Tyr106His | Missense | 1/1 | - |
4-57797350-C-G | REST | c.2326C>G | p.Pro776Ala | Missense | 4/4 | - |
4-57797350-C-T | REST | c.2326C>T | p.Pro776Ser | Missense | 4/4 | - |
1-41976217-G-C | HIVEP3 | c.7126C>G | p.Pro2376Ala | Missense | 9/9 | - |
6-37614063-C-T | MDGA1 | c.2135G>A | p.Arg712His | Missense | 11/17 | - |
5-140596087-C-T | PCDHB13 | c.2392C>T | p.Gln798* | Nonsense | 1/1 | - |
11-67818269-G-A | TCIRG1 | c.2476G>A | p.Ala826Thr | Missense | 20/20 | - |
20-57597971-G-C | TUBB1 | c.129G>C | p.Gln43His | Missense | 2/4 | - |
1-41976217-G-A | HIVEP3 | c.7126C>T | p.Pro2376Ser | Missense | 9/9 | - |
19-15905289-G-A | OR10H5 | c.431G>A | p.Arg144Gln | Missense | 1/1 | - |
6-80717676-C-T | TTK | c.290C>T | p.Ala97Val | Missense | 3/22 | - |
1-156105704-G-A | LMNA | c.949G>A | p.Glu317Lys | Missense | 6/12 | - |
1-156105704-G-T | LMNA | c.949G>T | p.Glu317* | Nonsense | 6/12 | - |
5-825286-G-T | ZDHHC11 | c.1016C>A | p.Thr339Lys | Missense | 8/13 | - |
16-56535333-G-A | BBS2 | c.1157C>T | p.Thr386Met | Missense | 10/17 | - |
3-49723750-A-T | MST1 | c.1012T>A | p.Cys338Ser | Missense | 8/18 | - |
9-33385863-G-A | AQP7 | c.527C>T | p.Ala176Val | Missense | 7/8 | - |
3-183994447-C-T | EEF1AKMT4-ECE2 | c.481-233C>T | - | IntronicSNV | - | 2/18 |
3-183994447-C-G | EEF1AKMT4-ECE2 | c.481-233C>G | - | IntronicSNV | - | 2/18 |
6-35745305-G-A | CLPSL2 | c.154G>A | p.Gly52Ser | Missense | 2/3 | - |
11-65715203-C-T | TSGA10IP | c.907C>T | p.Arg303* | Nonsense | 3/8 | - |
6-137015311-G-A | MAP3K5 | c.1220C>T | p.Thr407Met | Missense | 7/30 | - |
1-204378775-T-C | PPP1R15B | c.1765A>G | p.Lys589Glu | Missense | 1/2 | - |
19-55107308-G-C | LILRA1 | c.866G>C | p.Arg289Pro | Missense | 6/10 | - |
19-622207-C-T | POLRMT | c.1793G>A | p.Arg598His | Missense | 9/21 | - |
19-622207-C-A | POLRMT | c.1793G>T | p.Arg598Leu | Missense | 9/21 | - |
3-49689642-C-T | BSN | c.2653C>T | p.Pro885Ser | Missense | 5/12 | - |
15-34647972-C-T | NUTM1 | c.1679C>T | p.Pro560Leu | Missense | 8/8 | - |
5-112769659-C-T | MCC | c.171-48750G>A | - | IntronicSNV | - | 1/18 |
5-173035291-G-A | BOD1 | c.*6C>T | - | 3_prime_UTR_variant | 4/4 | - |
3-195511070-C-T | MUC4 | c.7381G>A | p.Asp2461Asn | Missense | 2/25 | - |
3-195511070-C-G | MUC4 | c.7381G>C | p.Asp2461His | Missense | 2/25 | - |
5-150227966-C-T | IRGM | c.281C>T | p.Thr94Ile | Missense | 2/2 | - |
19-49539560-T-G | CGB1 | c.10A>C | p.Arg4Arg | Synonymous | 2/3 | - |
5-150227966-C-A | IRGM | c.281C>A | p.Thr94Lys | Missense | 2/2 | - |
19-49539560-T-C | CGB1 | c.10A>G | p.Arg4Gly | Missense | 2/3 | - |
16-427699-C-T | TMEM8A | c.271G>A | p.Ala91Thr | Missense | 2/13 | - |
16-427699-C-G | TMEM8A | c.271G>C | p.Ala91Pro | Missense | 2/13 | - |
X-135956342-C-G | RBMX | c.1135G>C | p.Gly379Arg | Missense | 9/9 | - |
9-84606251-T-G | SPATA31D1 | c.866T>G | p.Ile289Ser | Missense | 4/4 | - |
9-84606251-T-C | SPATA31D1 | c.866T>C | p.Ile289Thr | Missense | 4/4 | - |
19-17837425-C-G | MAP1S | c.1232C>G | p.Ser411Cys | Missense | 5/7 | - |
1-63999234-G-C | EFCAB7 | c.596G>C | p.Gly199Ala | Missense | 5/14 | - |
19-43530473-G-A | PSG11 | c.52C>T | p.Leu18Phe | Missense | 1/6 | - |
16-72830539-C-A | ZFHX3 | c.6042G>T | p.Gln2014His | Missense | 9/10 | - |
1-40230336-C-G | BMP8B | c.827G>C | p.Ser276Thr | Missense | 4/7 | - |
1-40230336-C-A | BMP8B | c.827G>T | p.Ser276Ile | Missense | 4/7 | - |
16-72830539-C-G | ZFHX3 | c.6042G>C | p.Gln2014His | Missense | 9/10 | - |
17-39579059-G-A | KRT37 | c.703C>T | p.Gln235* | Nonsense | 3/7 | - |
9-8485885-T-C | PTPRD | c.1814-561A>G | - | IntronicSNV | - | 11/29 |
2-31215798-C-A | GALNT14 | c.205G>T | p.Val69Phe | Missense | 2/15 | - |
3-195507086-C-A | MUC4 | c.11365G>T | p.Asp3789Tyr | Missense | 2/25 | - |
17-39579059-G-T | KRT37 | c.703C>A | p.Gln235Lys | Missense | 3/7 | - |
17-39579059-G-C | KRT37 | c.703C>G | p.Gln235Glu | Missense | 3/7 | - |
1-16386495-C-G | FAM131C | c.320G>C | p.Arg107Pro | Missense | 5/7 | - |
10-124377661-G-A | DMBT1 | c.2749G>A | p.Val917Met | Missense | 25/40 | - |
1-16386495-C-T | FAM131C | c.320G>A | p.Arg107Gln | Missense | 5/7 | - |
12-54422504-C-T | HOXC6 | c.199C>T | p.Arg67Trp | Missense | 1/2 | - |
12-53455042-A-G | TNS2 | c.3352A>G | p.Thr1118Ala | Missense | 20/29 | - |
7-151882672-C-T | KMT2C | c.5053G>A | p.Ala1685Thr | Missense | 34/59 | - |
7-151882672-C-A | KMT2C | c.5053G>T | p.Ala1685Ser | Missense | 34/59 | - |
5-96341912-C-T | LNPEP | c.1921C>T | p.Pro641Ser | Missense | 10/18 | - |
2-95691596-C-T | MAL | c.59C>T | p.Thr20Ile | Missense | 1/4 | - |
17-39553547-G-A | KRT31 | c.245C>T | p.Ala82Val | Missense | 1/7 | - |
12-54422504-C-A | HOXC6 | c.199C>A | p.Arg67Arg | Synonymous | 1/2 | - |
12-54422504-C-G | HOXC6 | c.199C>G | p.Arg67Gly | Missense | 1/2 | - |
6-42074872-A-C | C6orf132 | c.778T>G | p.Ser260Ala | Missense | 4/5 | - |
6-132860260-G-A | TAAR9 | c.832G>A | p.Ala278Thr | Missense | 1/1 | - |
12-11091206-G-A | TAS2R14 | c.601C>T | p.Leu201Phe | Missense | 1/1 | - |
2-74783865-A-G | DOK1 | c.1070A>G | p.Lys357Arg | Missense | 5/5 | - |
2-74783865-A-T | DOK1 | c.1070A>T | p.Lys357Ile | Missense | 5/5 | - |
9-33385690-G-C | AQP7 | c.700C>G | p.Arg234Gly | Missense | 7/8 | - |
21-45391272-C-T | AGPAT3 | c.668C>T | p.Ala223Val | Missense | 7/10 | - |
9-33385690-G-T | AQP7 | c.700C>A | p.Arg234Ser | Missense | 7/8 | - |
17-14140080-C-T | CDRT15 | c.71G>A | p.Arg24Gln | Missense | 1/3 | - |
17-14140080-C-G | CDRT15 | c.71G>C | p.Arg24Pro | Missense | 1/3 | - |
17-14140080-C-A | CDRT15 | c.71G>T | p.Arg24Leu | Missense | 1/3 | - |
15-41476551-C-T | EXD1 | c.1123G>A | p.Gly375Arg | Missense | 10/10 | - |
10-49658943-G-T | ARHGAP22 | c.1229C>A | p.Thr410Lys | Missense | 9/10 | - |
6-169621600-G-A | THBS2 | c.3296C>T | p.Pro1099Leu | Missense | 21/23 | - |
6-169621600-G-T | THBS2 | c.3296C>A | p.Pro1099His | Missense | 21/23 | - |
10-50724316-C-T | ERCC6 | c.1397+7763G>A | - | IntronicSNV | - | 5/20 |
17-21319868-G-A | KCNJ12 | c.1214G>A | p.Ser405Asn | Missense | 3/3 | - |
17-21319868-G-T | KCNJ12 | c.1214G>T | p.Ser405Ile | Missense | 3/3 | - |
3-140167490-T-A | CLSTN2 | c.917T>A | p.Ile306Asn | Missense | 6/17 | - |
15-79058951-T-C | ADAMTS7 | c.3302A>G | p.His1101Arg | Missense | 19/24 | - |
19-58864480-G-A | A1BG | c.154C>T | p.His52Tyr | Missense | 3/8 | - |
3-140167490-T-C | CLSTN2 | c.917T>C | p.Ile306Thr | Missense | 6/17 | - |
11-51516144-A-G | OR4C46 | c.863A>G | p.Lys288Arg | Missense | 1/1 | - |
6-137245567-C-T | SLC35D3 | c.984C>T | p.Asp328Asp | Synonymous | 2/2 | - |
11-8009015-C-T | EIF3F | c.116C>T | p.Pro39Leu | Missense | 1/8 | - |
10-105160184-A-G | PDCD11 | c.133A>G | p.Lys45Glu | Missense | 3/36 | - |
17-2238152-T-C | TSR1 | c.595A>G | p.Lys199Glu | Missense | 5/15 | - |
11-58714574-A-G | GLYATL1 | c.171+33A>G | - | IntronicSNV | - | 3/6 |
4-68810346-T-C | TMPRSS11A | c.143A>G | p.Lys48Arg | Missense | 3/10 | - |
1-1271853-G-A | DVL1 | c.1682C>T | p.Pro561Leu | Missense | 15/15 | - |
5-150436503-G-C | TNIP1 | c.451C>G | p.Pro151Ala | Missense | 6/18 | - |
16-4625470-C-G | C16orf96 | c.989C>G | p.Pro330Arg | Missense | 5/16 | - |
5-150436503-G-A | TNIP1 | c.451C>T | p.Pro151Ser | Missense | 6/18 | - |
16-28607196-G-C | SULT1A2 | c.56C>G | p.Pro19Arg | Missense | 2/8 | - |
2-238289980-G-C | COL6A3 | c.1475C>G | p.Thr492Ser | Missense | 5/44 | - |
14-105398392-G-A | PLD4 | c.1102G>A | p.Gly368Ser | Missense | 9/11 | - |
16-28607196-G-A | SULT1A2 | c.56C>T | p.Pro19Leu | Missense | 2/8 | - |
7-151791365-C-T | GALNT11 | c.53C>T | p.Ala18Val | Missense | 2/12 | - |
13-24465717-A-G | C1QTNF9B | c.713T>C | p.Val238Ala | Missense | 3/3 | - |
15-75641682-T-C | NEIL1 | c.434+2T>C | - | IntronicSNV | - | 2/9 |
7-100639095-A-C | MUC12 | c.5251A>C | p.Thr1751Pro | Missense | 2/12 | - |
7-100639095-A-G | MUC12 | c.5251A>G | p.Thr1751Ala | Missense | 2/12 | - |
7-100639095-A-T | MUC12 | c.5251A>T | p.Thr1751Ser | Missense | 2/12 | - |
15-43348610-T-C | UBR1 | c.1213A>G | p.Ser405Gly | Missense | 11/47 | - |
13-24465717-A-C | C1QTNF9B | c.713T>G | p.Val238Gly | Missense | 3/3 | - |
13-78477314-C-A | EDNRB | c.778G>T | p.Val260Phe | Missense | 4/8 | - |
16-70694056-C-T | IL34 | c.695C>T | p.Pro232Leu | Missense | 7/7 | - |
13-78477314-C-T | EDNRB | c.778G>A | p.Val260Ile | Missense | 4/8 | - |
6-111983038-G-C | FYN | c.1518C>G | p.Asp506Glu | Missense | 14/14 | - |
11-77413429-T-C | RSF1 | c.845A>G | p.Asp282Gly | Missense | 6/16 | - |
11-123909653-G-T | OR10G7 | c.56C>A | p.Pro19Gln | Missense | 1/1 | - |
14-105180785-C-T | INF2 | c.3286C>T | p.Pro1096Ser | Missense | 21/23 | - |
12-53170960-G-C | KRT76 | c.116C>G | p.Ala39Gly | Missense | 1/9 | - |
9-130422312-G-A | STXBP1 | c.250G>A | p.Val84Ile | Missense | 5/20 | - |
5-109756330-T-C | TMEM232 | c.1925A>G | p.His642Arg | Missense | 14/14 | - |
12-53298606-A-G | KRT8 | c.160T>C | p.Tyr54His | Missense | 1/8 | - |
12-53298606-A-T | KRT8 | c.160T>A | p.Tyr54Asn | Missense | 1/8 | - |
3-195510878-C-A | MUC4 | c.7573G>T | p.Asp2525Tyr | Missense | 2/25 | - |
3-195510878-C-G | MUC4 | c.7573G>C | p.Asp2525His | Missense | 2/25 | - |
19-54755922-C-T | LILRB5 | c.1624G>A | p.Ala542Thr | Missense | 12/13 | - |
7-100677279-G-C | MUC17 | c.2582G>C | p.Ser861Thr | Missense | 3/13 | - |
13-19753484-C-G | TUBA3C | c.223G>C | p.Val75Leu | Missense | 2/5 | - |
21-11049596-C-T | BAGE2 | c.305G>A | p.Cys102Tyr | Missense | 4/10 | - |
19-41384702-T-C | CYP2A7 | c.641A>G | p.Gln214Arg | Missense | 4/8 | - |
10-124345796-C-T | DMBT1 | c.1420+1929C>T | - | IntronicSNV | - | 14/39 |
11-65629482-G-A | MUS81 | c.416G>A | p.Arg139Gln | Missense | 4/16 | - |
4-78079695-T-G | CCNG2 | c.10T>G | p.Leu4Val | Missense | 2/8 | - |
7-133906576-A-G | LRGUK | c.1889A>G | p.Tyr630Cys | Missense | 16/20 | - |
14-105612169-C-T | JAG2 | c.2851G>A | p.Ala951Thr | Missense | 23/26 | - |
19-55107308-G-A | LILRA1 | c.866G>A | p.Arg289His | Missense | 6/10 | - |
5-40998779-T-C | MROH2B | c.4586A>G | p.Asp1529Gly | Missense | 41/42 | - |
7-100639066-C-T | MUC12 | c.5222C>T | p.Ser1741Leu | Missense | 2/12 | - |
21-11049596-C-A | BAGE2 | c.305G>T | p.Cys102Phe | Missense | 4/10 | - |
10-124345796-C-G | DMBT1 | c.1420+1929C>G | - | IntronicSNV | - | 14/39 |
10-124345796-C-A | DMBT1 | c.1420+1929C>A | - | IntronicSNV | - | 14/39 |
11-82444021-T-G | FAM181B | c.751A>C | p.Ser251Arg | Missense | 1/1 | - |
19-35231638-A-G | ZNF181 | c.352A>G | p.Lys118Glu | Missense | 4/4 | - |
5-96245365-C-T | ERAP2 | c.2251C>T | p.Arg751Cys | Missense | 15/19 | - |
12-110383141-G-A | GIT2 | c.1655C>T | p.Ala552Val | Missense | 16/20 | - |
19-7056571-G-A | MBD3L3 | c.389C>T | p.Ala130Val | Missense | 2/2 | - |
22-23476312-C-T | RSPH14 | c.322G>A | p.Asp108Asn | Missense | 4/7 | - |
1-158298714-C-T | CD1B | c.977G>A | p.Arg326His | Missense | 5/6 | - |
9-43627428-G-A | SPATA31A6 | c.1259C>T | p.Pro420Leu | Missense | 4/4 | - |
17-48601096-C-T | MYCBPAP | c.1586C>T | - | missense_variant | 12/19 | - |
19-17837425-C-T | MAP1S | c.1232C>T | p.Ser411Phe | Missense | 5/7 | - |
20-1895889-G-C | SIRPA | c.224G>C | p.Gly75Ala | Missense | 3/9 | - |
16-12009279-A-T | GSPT1 | c.299T>A | p.Val100Asp | Missense | 1/15 | - |
16-31155064-C-T | PRSS36 | c.815G>A | p.Arg272His | Missense | 7/15 | - |
8-27358495-C-T | EPHX2 | c.154C>T | p.Arg52Trp | Missense | 2/19 | - |
14-54997751-C-T | CGRRF1 | c.553C>T | p.Arg185Trp | Missense | 4/6 | - |
8-27358495-C-A | EPHX2 | c.154C>A | p.Arg52Arg | Synonymous | 2/19 | - |
14-23519131-C-T | CDH24 | c.1499G>A | p.Arg500His | Missense | 10/14 | - |
2-189931144-A-G | COL5A2 | c.1535T>C | p.Val512Ala | Missense | 23/54 | - |
22-17288789-G-T | XKR3 | c.175C>A | p.Arg59Arg | Synonymous | 2/4 | - |
9-35841510-C-T | TMEM8B | c.1-926C>T | - | IntronicSNV | - | 1/10 |
16-1537458-G-T | PTX4 | c.640C>A | p.His214Asn | Missense | 2/3 | - |
5-96245365-C-G | ERAP2 | c.2251C>G | p.Arg751Gly | Missense | 15/19 | - |
15-83481859-T-A | WHAMM | c.614T>A | p.Ile205Asn | Missense | 2/10 | - |
2-179482763-C-T | TTN | c.39611G>A | p.Arg13204Gln | Missense | 202/312 | - |
11-32781773-T-C | CCDC73 | c.17A>G | p.Asn6Ser | Missense | 2/18 | - |
3-10115033-G-T | FANCD2 | c.2702G>T | p.Gly901Val | Missense | 28/44 | - |
17-74300497-G-A | QRICH2 | c.206C>T | p.Ala69Val | Missense | 3/19 | - |
1-248085124-G-A | OR2T8 | c.805G>A | p.Asp269Asn | Missense | 1/1 | - |
21-43531264-C-G | UMODL1 | c.1899+33C>G | - | IntronicSNV | - | 11/22 |
2-215813807-T-A | ABCA12 | c.6919A>T | p.Ile2307Phe | Missense | 46/53 | - |
14-105412260-G-C | AHNAK2 | c.9528C>G | p.Asp3176Glu | Missense | 7/7 | - |
20-62577298-C-T | UCKL1 | c.442G>A | p.Ala148Thr | Missense | 4/15 | - |
2-215813807-T-C | ABCA12 | c.6919A>G | p.Ile2307Val | Missense | 46/53 | - |
20-60897104-C-T | LAMA5 | c.6467G>A | p.Gly2156Glu | Missense | 48/80 | - |
7-100677455-G-A | MUC17 | c.2758G>A | p.Gly920Arg | Missense | 3/13 | - |
14-23859610-C-T | MYH6 | c.3388G>A | p.Ala1130Thr | Missense | 26/39 | - |
12-11461549-G-T | PRB4 | c.368C>A | p.Pro123Gln | Missense | 3/4 | - |
11-60184277-A-C | MS4A14 | c.1785A>C | p.Gln595His | Missense | 4/4 | - |
16-24902299-C-G | SLC5A11 | c.774C>G | p.Phe258Leu | Missense | 9/16 | - |
1-12921600-C-G | PRAMEF2 | c.1391C>G | p.Pro464Arg | Missense | 4/4 | - |
1-204159787-G-A | KISS1 | c.242C>T | p.Pro81Leu | Missense | 3/3 | - |
1-204159787-G-C | KISS1 | c.242C>G | p.Pro81Arg | Missense | 3/3 | - |
1-12921600-C-T | PRAMEF2 | c.1391C>T | p.Pro464Leu | Missense | 4/4 | - |
10-127462934-G-T | MMP21 | c.163C>A | p.Arg55Arg | Synonymous | 2/7 | - |
9-139841132-G-T | C8G | c.586G>T | p.Val196Phe | Missense | 6/7 | - |
8-68421768-G-A | CPA6 | c.518C>T | p.Ser173Phe | Missense | 5/11 | - |
9-139841132-G-A | C8G | c.586G>A | p.Val196Ile | Missense | 6/7 | - |
1-16384999-G-C | FAM131C | c.776C>G | p.Pro259Arg | Missense | 7/7 | - |
12-108956417-T-C | ISCU | c.-153T>C | - | 5_prime_UTR_variant | 1/6 | - |
1-38040285-C-T | GNL2 | c.1283G>A | p.Arg428Gln | Missense | 11/16 | - |
X-91518138-G-A | PCDH11X | c.3114+61684G>A | - | IntronicSNV | - | 3/5 |
17-21319388-C-T | KCNJ12 | c.734C>T | p.Pro245Leu | Missense | 3/3 | - |
13-25021263-T-A | PARP4 | c.3176A>T | p.Gln1059Leu | Missense | 26/34 | - |
19-1000785-C-T | GRIN3B | c.349C>T | p.His117Tyr | Missense | 1/9 | - |
12-72092865-T-G | TMEM19 | c.823T>G | p.Leu275Val | Missense | 5/6 | - |
7-17378917-A-G | AHR | c.1468A>G | p.Met490Val | Missense | 10/11 | - |
2-209302328-C-A | PTH2R | c.245C>A | p.Ser82* | Nonsense | 3/13 | - |
11-89531543-C-T | TRIM49 | c.1114G>A | p.Asp372Asn | Missense | 8/8 | - |
11-44069719-G-A | ACCSL | c.133G>A | p.Val45Met | Missense | 1/14 | - |
8-144789973-C-A | CCDC166 | c.307G>T | p.Ala103Ser | Missense | 1/2 | - |
8-144789973-C-T | CCDC166 | c.307G>A | p.Ala103Thr | Missense | 1/2 | - |
9-138456155-C-T | PAEP | c.376C>T | p.Gln126* | Nonsense | 4/7 | - |
9-138456155-C-A | PAEP | c.376C>A | p.Gln126Lys | Missense | 4/7 | - |
8-121530092-C-T | MTBP | c.2248C>T | p.Leu750Phe | Missense | 19/22 | - |
1-161736209-T-C | ATF6 | c.59T>C | p.Phe20Ser | Missense | 1/16 | - |
12-120306959-C-T | CIT | c.143G>A | p.Arg48Gln | Missense | 3/47 | - |
18-44181227-C-T | LOXHD1 | c.1087G>A | p.Val363Ile | Missense | 8/40 | - |
8-139164185-T-G | FAM135B | c.2533A>C | p.Ile845Leu | Missense | 13/20 | - |
7-28995803-G-A | TRIL | c.1860C>T | p.Phe620Phe | Synonymous | 3/3 | - |
1-17281235-G-A | CROCC | c.3328G>A | p.Val1110Met | Missense | 23/37 | - |
20-3171872-G-A | DDRGK1 | c.742C>T | p.Arg248Cys | Missense | 8/9 | - |
1-12885195-C-T | PRAMEF11 | c.916G>A | p.Glu306Lys | Missense | 5/5 | - |
3-195507578-C-A | MUC4 | c.10873G>T | p.Ala3625Ser | Missense | 2/25 | - |
3-48626832-C-T | COL7A1 | c.2242G>A | p.Glu748Lys | Missense | 17/118 | - |
10-5138747-A-G | AKR1C3 | c.230A>G | p.Glu77Gly | Missense | 2/9 | - |
11-1017552-T-C | MUC6 | c.5249A>G | p.His1750Arg | Missense | 31/33 | - |
1-152284558-C-T | FLG | c.2804G>A | p.Gly935Glu | Missense | 3/3 | - |
1-152284558-C-G | FLG | c.2804G>C | p.Gly935Ala | Missense | 3/3 | - |
12-53039173-G-C | KRT2 | c.1550C>G | p.Ala517Gly | Missense | 9/9 | - |
5-149360630-C-T | SLC26A2 | c.1474C>T | p.Arg492Trp | Missense | 3/3 | - |
19-41354533-A-T | CYP2A6 | c.479T>A | p.Leu160His | Missense | 3/9 | - |
11-62298068-A-G | AHNAK | c.342+4407T>C | - | IntronicSNV | - | 4/5 |
16-5077157-C-G | NAGPA | c.1319G>C | p.Gly440Ala | Missense | 9/10 | - |
17-4806052-C-G | CHRNE | c.53G>C | p.Gly18Ala | Missense | 2/12 | - |
7-2649765-C-T | IQCE | c.2057C>T | p.Pro686Leu | Missense | 22/22 | - |
11-123894234-A-G | OR10G9 | c.515A>G | p.Gln172Arg | Missense | 1/1 | - |
12-7252506-C-T | C1RL | c.607G>A | p.Ala203Thr | Missense | 4/6 | - |
17-4806052-C-A | CHRNE | c.53G>T | p.Gly18Val | Missense | 2/12 | - |
19-53056953-G-A | ZNF808 | c.784G>A | p.Asp262Asn | Missense | 5/5 | - |
X-135956467-C-T | RBMX | c.1010G>A | p.Ser337Asn | Missense | 9/9 | - |
8-144885597-G-A | SCRIB | c.3559C>T | p.Leu1187Leu | Synonymous | 24/36 | - |
3-105264176-G-A | ALCAM | c.1101G>A | p.Met367Ile | Missense | 9/16 | - |
2-239162038-A-G | PER2 | c.2626T>C | p.Phe876Leu | Missense | 19/23 | - |
7-100683036-T-C | MUC17 | c.8339T>C | p.Ile2780Thr | Missense | 3/13 | - |
7-100678610-A-T | MUC17 | c.3913A>T | p.Thr1305Ser | Missense | 3/13 | - |
16-1258033-G-T | CACNA1H | c.3175G>T | p.Ala1059Ser | Missense | 16/34 | - |
10-28023688-C-T | MKX | c.535G>A | p.Glu179Lys | Missense | 5/7 | - |
17-73261868-G-A | MRPS7 | c.593G>A | p.Arg198Gln | Missense | 5/5 | - |
1-24402675-T-A | MYOM3 | c.2675A>T | p.Asp892Val | Missense | 21/37 | - |
1-24402675-T-G | MYOM3 | c.2675A>C | p.Asp892Ala | Missense | 21/37 | - |
12-52682218-C-G | KRT81 | c.662G>C | p.Arg221Pro | Missense | 4/9 | - |
19-17337557-G-T | OCEL1 | c.125G>T | p.Arg42Leu | Missense | 2/6 | - |
3-12192749-G-C | SYN2 | c.321G>C | p.Trp107Cys | Missense | 2/14 | - |
3-123440977-T-G | MYLK | c.1802A>C | p.His601Pro | Missense | 13/34 | - |
19-14043864-C-T | PODNL1 | c.1193G>A | p.Arg398His | Missense | 8/8 | - |
19-40541039-C-A | ZNF780B | c.1727G>T | p.Arg576Leu | Missense | 5/5 | - |
19-40519905-G-A | ZNF546 | c.728G>A | p.Arg243Lys | Missense | 7/7 | - |
19-40541039-C-T | ZNF780B | c.1727G>A | p.Arg576Gln | Missense | 5/5 | - |
12-110960196-G-A | RAD9B | c.1105G>A | p.Gly369Arg | Missense | 10/12 | - |
22-30197031-T-A | ASCC2 | c.1637A>T | p.Asp546Val | Missense | 15/20 | - |
1-12856111-C-T | PRAMEF1 | c.1391C>T | p.Pro464Leu | Missense | 4/4 | - |
1-12856111-C-G | PRAMEF1 | c.1391C>G | p.Pro464Arg | Missense | 4/4 | - |
16-3708192-C-T | TRAP1 | c.2053G>A | p.Asp685Asn | Missense | 18/18 | - |
19-1619350-C-T | TCF3 | c.1291G>A | p.Gly431Ser | Missense | 15/19 | - |
22-30197031-T-C | ASCC2 | c.1637A>G | p.Asp546Gly | Missense | 15/20 | - |
15-29421054-C-T | FAM189A1 | c.941G>A | p.Gly314Asp | Missense | 8/11 | - |
14-73729498-G-A | PAPLN | c.2605G>A | p.Gly869Arg | Missense | 18/26 | - |
7-6189373-C-T | USP42 | c.1546C>T | p.His516Tyr | Missense | 13/18 | - |
3-42567381-C-A | VIPR1 | c.295C>A | p.Arg99Ser | Missense | 4/13 | - |
12-53238347-G-C | KRT78 | c.917C>G | p.Thr306Ser | Missense | 5/9 | - |
10-102239656-T-C | WNT8B | c.128T>C | p.Val43Ala | Missense | 3/6 | - |
2-167108385-C-G | SCN9A | c.3329G>C | p.Arg1110Pro | Missense | 18/27 | - |
12-53238347-G-A | KRT78 | c.917C>T | p.Thr306Ile | Missense | 5/9 | - |
15-43724532-T-C | TP53BP1 | c.3535A>G | p.Ile1179Val | Missense | 17/28 | - |
7-100678481-A-T | MUC17 | c.3784A>T | p.Thr1262Ser | Missense | 3/13 | - |
12-8612294-G-C | CLEC6A | c.223G>C | p.Ala75Pro | Missense | 3/6 | - |
19-56001665-C-T | SSC5D | c.476C>T | p.Ala159Val | Missense | 5/14 | - |
7-76240888-A-G | POMZP3 | c.458T>C | p.Leu153Pro | Missense | 6/7 | - |
20-34092076-G-A | CEP250 | c.5879G>A | p.Arg1960Gln | Missense | 30/35 | - |
7-76240888-A-T | POMZP3 | c.458T>A | p.Leu153Gln | Missense | 6/7 | - |
1-20960385-A-T | PINK1 | c.344A>T | p.Gln115Leu | Missense | 1/8 | - |
22-50682234-C-A | TUBGCP6 | c.655G>T | p.Val219Leu | Missense | 1/25 | - |
1-89449298-C-G | KYAT3 | c.99+4637G>C | - | IntronicSNV | - | 2/13 |
19-501701-G-A | MADCAM1 | c.700G>A | p.Asp234Asn | Missense | 4/5 | - |
1-248084464-T-A | OR2T8 | c.145T>A | p.Trp49Arg | Missense | 1/1 | - |
1-42045770-G-A | HIVEP3 | c.4699C>T | p.Pro1567Ser | Missense | 4/9 | - |
3-128695828-G-A | KIAA1257 | c.890C>T | p.Thr297Met | Missense | 6/8 | - |
22-50682234-C-T | TUBGCP6 | c.655G>A | p.Val219Met | Missense | 1/25 | - |
7-100677704-C-G | MUC17 | c.3007C>G | p.Leu1003Val | Missense | 3/13 | - |
7-100677704-C-T | MUC17 | c.3007C>T | p.Leu1003Phe | Missense | 3/13 | - |
19-43530473-G-C | PSG11 | c.52C>G | p.Leu18Val | Missense | 1/6 | - |
X-65253352-C-T | VSIG4 | c.376G>A | p.Val126Met | Missense | 2/8 | - |
19-59022243-C-T | SLC27A5 | c.743G>A | p.Arg248His | Missense | 2/10 | - |
19-45322904-C-G | BCAM | c.1684C>G | p.Leu562Val | Missense | 13/15 | - |
1-233802497-G-T | KCNK1 | c.512G>T | p.Arg171Leu | Missense | 2/3 | - |
19-51986547-A-G | CEACAM18 | c.950A>G | p.His317Arg | Missense | 4/6 | - |
X-153420176-A-C | OPN1LW | c.706A>C | p.Met236Leu | Missense | 4/6 | - |
7-150389594-G-T | GIMAP2 | c.220G>T | p.Val74Phe | Missense | 3/3 | - |
9-2039793-A-C | SMARCA2 | c.683A>C | p.Gln228Pro | Missense | 4/34 | - |
7-151478406-C-T | PRKAG2 | c.298G>A | p.Gly100Ser | Missense | 3/16 | - |
14-45665661-A-C | FANCM | c.5627A>C | p.Asn1876Thr | Missense | 21/23 | - |
1-75037007-C-G | ERICH3 | c.4387G>C | p.Asp1463His | Missense | 14/15 | - |
X-153420176-A-T | OPN1LW | c.706A>T | p.Met236Leu | Missense | 4/6 | - |
22-32630990-C-T | SLC5A4 | c.755G>A | p.Ser252Asn | Missense | 8/15 | - |
5-109963482-C-T | TMEM232 | c.601G>A | p.Ala201Thr | Missense | 6/14 | - |
2-69093439-G-C | BMP10 | c.599C>G | p.Thr200Ser | Missense | 2/2 | - |
17-34893655-C-G | PIGW | c.705C>G | p.His235Gln | Missense | 2/2 | - |
17-34893655-C-T | PIGW | c.705C>T | p.His235His | Synonymous | 2/2 | - |
5-23527565-A-C | PRDM9 | c.2368A>C | p.Asn790His | Missense | 11/11 | - |
11-26718732-C-A | SLC5A12 | c.1019G>T | p.Cys340Phe | Missense | 8/15 | - |
4-126373018-C-T | FAT4 | c.10847C>T | p.Thr3616Met | Missense | 9/17 | - |
11-51516191-G-T | OR4C46 | c.910G>T | p.Asp304Tyr | Missense | 1/1 | - |
3-179408054-C-T | USP13 | c.320C>T | p.Ala107Val | Missense | 3/21 | - |
3-195512726-C-T | MUC4 | c.5725G>A | p.Asp1909Asn | Missense | 2/25 | - |
3-195508046-C-G | MUC4 | c.10405G>C | p.Asp3469His | Missense | 2/25 | - |
3-195508046-C-T | MUC4 | c.10405G>A | p.Asp3469Asn | Missense | 2/25 | - |
14-25076906-C-T | GZMH | c.251G>A | p.Arg84Gln | Missense | 3/5 | - |
14-25076906-C-G | GZMH | c.251G>C | p.Arg84Pro | Missense | 3/5 | - |
14-25076906-C-A | GZMH | c.251G>T | p.Arg84Leu | Missense | 3/5 | - |
7-6844574-C-T | CCZ1B | c.1101G>A | p.Met367Ile | Missense | 12/15 | - |
11-44331309-G-A | ALX4 | c.304C>T | p.Pro102Ser | Missense | 1/4 | - |
5-140347703-C-T | PCDHAC1 | c.2434-10831C>T | - | IntronicSNV | - | 1/3 |
14-105415748-G-A | AHNAK2 | c.6040C>T | p.Pro2014Ser | Missense | 7/7 | - |
12-52681925-A-T | KRT81 | c.743T>A | p.Leu248His | Missense | 5/9 | - |
12-52681925-A-C | KRT81 | c.743T>G | p.Leu248Arg | Missense | 5/9 | - |
7-6449794-A-G | DAGLB | c.1787T>C | p.Ile596Thr | Missense | 14/15 | - |
12-38714242-G-A | ALG10B | c.649G>A | p.Glu217Lys | Missense | 3/3 | - |
12-11244438-C-T | TAS2R43 | c.391G>A | p.Val131Met | Missense | 1/1 | - |
8-144810322-G-A | FAM83H | c.1309C>T | p.His437Tyr | Missense | 5/5 | - |
4-190876204-G-A | FRG1 | c.330G>A | p.Lys110Lys | Synonymous | 5/9 | - |
4-190876204-G-T | FRG1 | c.330G>T | p.Lys110Asn | Missense | 5/9 | - |
19-9002504-T-C | MUC16 | c.40312A>G | p.Asn13438Asp | Missense | 51/84 | - |
3-98217178-T-A | OR5K2 | c.654T>A | p.Tyr218* | Nonsense | 1/1 | - |
7-34125551-A-G | BMPER | c.1592A>G | p.Asn531Ser | Missense | 14/16 | - |
1-12854479-C-G | PRAMEF1 | c.703C>G | p.Arg235Gly | Missense | 3/4 | - |
7-34125551-A-T | BMPER | c.1592A>T | p.Asn531Ile | Missense | 14/16 | - |
19-45315445-G-A | BCAM | c.230G>A | p.Arg77His | Missense | 3/15 | - |
19-45315445-G-C | BCAM | c.230G>C | p.Arg77Pro | Missense | 3/15 | - |
1-232564162-T-C | SIPA1L2 | c.4405A>G | p.Arg1469Gly | Missense | 15/21 | - |
8-144809721-G-A | FAM83H | c.1910C>T | p.Pro637Leu | Missense | 5/5 | - |
3-137717744-G-A | CLDN18 | c.34G>A | p.Val12Met | Missense | 1/5 | - |
1-16895586-T-G | NBPF1 | c.2596A>C | p.Met866Leu | Missense | 23/28 | - |
11-65385456-C-G | PCNX3 | c.623C>G | p.Ser208Cys | Missense | 6/35 | - |
11-65385456-C-T | PCNX3 | c.623C>T | p.Ser208Phe | Missense | 6/35 | - |
19-51918135-G-A | SIGLEC10 | c.1558C>T | p.Arg520Cys | Missense | 8/11 | - |
18-13826417-G-A | MC5R | c.653G>A | p.Arg218Gln | Missense | 2/2 | - |
14-75330306-A-G | PROX2 | c.232T>C | p.Ser78Pro | Missense | 1/3 | - |
16-30566747-G-A | ZNF764 | c.995C>T | p.Ala332Val | Missense | 3/3 | - |
19-51918135-G-T | SIGLEC10 | c.1558C>A | p.Arg520Ser | Missense | 8/11 | - |
21-46020721-G-A | TSPEAR | c.83-32832C>T | - | IntronicSNV | - | 1/11 |
8-139628282-T-C | COL22A1 | c.3886A>G | p.Met1296Val | Missense | 55/65 | - |
21-46020721-G-C | TSPEAR | c.83-32832C>G | - | IntronicSNV | - | 1/11 |
7-30649252-G-A | GARS | c.787G>A | p.Val263Ile | Missense | 7/17 | - |
11-1267960-A-G | MUC5B | c.9850A>G | p.Thr3284Ala | Missense | 31/49 | - |
11-1267960-A-T | MUC5B | c.9850A>T | p.Thr3284Ser | Missense | 31/49 | - |
11-556531-C-T | LMNTD2 | c.1034G>A | p.Cys345Tyr | Missense | 9/14 | - |
19-57088558-A-G | ZNF470 | c.761A>G | p.Lys254Arg | Missense | 6/6 | - |
16-28603393-T-C | SULT1A2 | c.844A>G | p.Lys282Glu | Missense | 8/8 | - |
10-50824106-C-T | CHAT | c.287-442C>T | - | IntronicSNV | - | 1/14 |
1-248224746-G-A | OR2L3 | c.763G>A | p.Val255Ile | Missense | 1/1 | - |
10-50824106-C-A | CHAT | c.287-442C>A | - | IntronicSNV | - | 1/14 |
5-13902177-A-C | DNAH5 | c.1715T>G | p.Leu572Trp | Missense | 13/79 | - |
4-88537232-A-G | DSPP | c.3418A>G | p.Asn1140Asp | Missense | 5/5 | - |
1-248224746-G-T | OR2L3 | c.763G>T | p.Val255Phe | Missense | 1/1 | - |
21-47552389-G-A | COL6A2 | c.2983G>A | p.Ala995Thr | Missense | 28/28 | - |
6-33690691-C-T | IP6K3 | c.1039G>A | p.Glu347Lys | Missense | 6/6 | - |
1-12907284-T-C | HNRNPCL1 | c.859A>G | p.Thr287Ala | Missense | 2/2 | - |
21-47552389-G-C | COL6A2 | c.2983G>C | p.Ala995Pro | Missense | 28/28 | - |
10-70992634-C-G | HKDC1 | c.341C>G | p.Thr114Arg | Missense | 3/18 | - |
X-49957346-G-A | AKAP4 | c.2018C>T | p.Ala673Val | Missense | 5/6 | - |
5-140503237-A-G | PCDHB4 | c.1657A>G | p.Thr553Ala | Missense | 1/1 | - |
X-3248104-C-T | MXRA5 | c.664G>A | p.Asp222Asn | Missense | 4/7 | - |
8-11996086-G-A | USP17L2 | c.184C>T | p.Leu62Phe | Missense | 1/1 | - |
19-15905529-C-A | OR10H5 | c.671C>A | p.Ala224Asp | Missense | 1/1 | - |
9-21206605-C-G | IFNA10 | c.492G>C | p.Trp164Cys | Missense | 1/1 | - |
11-1016795-C-G | MUC6 | c.6006G>C | p.Gln2002His | Missense | 31/33 | - |
11-1016795-C-T | MUC6 | c.6006G>A | p.Gln2002Gln | Synonymous | 31/33 | - |
17-6703384-C-T | TEKT1 | c.1219G>A | p.Val407Ile | Missense | 8/8 | - |
8-110447512-G-T | PKHD1L1 | c.3434G>T | p.Gly1145Val | Missense | 29/78 | - |
8-110447512-G-A | PKHD1L1 | c.3434G>A | p.Gly1145Glu | Missense | 29/78 | - |
8-110447512-G-C | PKHD1L1 | c.3434G>C | p.Gly1145Ala | Missense | 29/78 | - |
7-29132279-A-G | CPVL | c.502T>C | p.Tyr168His | Missense | 6/13 | - |
5-140554484-G-T | PCDHB7 | c.2068G>T | p.Val690Leu | Missense | 1/1 | - |
11-123814145-G-T | OR6T1 | c.401C>A | p.Thr134Asn | Missense | 1/1 | - |
1-45276242-C-T | BTBD19 | c.317C>T | p.Thr106Ile | Missense | 3/8 | - |
7-1097555-G-A | C7orf50 | c.130-47776C>T | - | IntronicSNV | - | 2/4 |
11-308314-T-G | IFITM2 | c.122T>G | p.Met41Arg | Missense | 1/2 | - |
14-45665661-A-G | FANCM | c.5627A>G | p.Asn1876Ser | Missense | 21/23 | - |
1-12941742-G-A | PRAMEF4 | c.808C>T | p.Arg270Cys | Missense | 3/4 | - |
2-241631839-G-A | AQP12A | c.472G>A | p.Ala158Thr | Missense | 2/4 | - |
19-13869786-G-T | CCDC130 | c.362G>T | p.Arg121Leu | Missense | 7/10 | - |
4-88537063-A-C | DSPP | c.3249A>C | p.Glu1083Asp | Missense | 5/5 | - |
19-43865692-G-A | CD177 | c.1042G>A | p.Ala348Thr | Missense | 8/9 | - |
20-36641366-C-T | TTI1 | c.853G>A | p.Asp285Asn | Missense | 3/9 | - |
9-131020436-C-G | GOLGA2 | c.2250G>C | p.Glu750Asp | Missense | 22/26 | - |
19-35449486-T-C | ZNF792 | c.1273A>G | p.Asn425Asp | Missense | 4/4 | - |
19-35449486-T-G | ZNF792 | c.1273A>C | p.Asn425His | Missense | 4/4 | - |
1-12726036-C-G | AADACL4 | c.514C>G | p.His172Asp | Missense | 4/4 | - |
5-81608561-C-G | ATP6AP1L | c.263C>G | p.Ser88Cys | Missense | 9/10 | - |
4-88766636-A-G | MEPE | c.616A>G | p.Ser206Gly | Missense | 4/4 | - |
4-88766636-A-C | MEPE | c.616A>C | p.Ser206Arg | Missense | 4/4 | - |
5-81608561-C-T | ATP6AP1L | c.263C>T | p.Ser88Phe | Missense | 9/10 | - |
3-8675447-C-G | SSUH2 | c.178G>C | p.Ala60Pro | Missense | 4/12 | - |
3-8675447-C-T | SSUH2 | c.178G>A | p.Ala60Thr | Missense | 4/12 | - |
X-65418789-G-A | HEPH | c.1945G>A | p.Ala649Thr | Missense | 11/21 | - |
21-45987884-G-A | TSPEAR | c.88C>T | p.Arg30Cys | Missense | 2/12 | - |
1-7998823-C-T | TNFRSF9 | c.166G>A | p.Ala56Thr | Missense | 3/8 | - |
18-712568-G-A | ENOSF1 | c.20C>T | p.Ser7Phe | Missense | 1/16 | - |
7-34917768-G-A | NPSR1 | c.1106G>A | p.Gly369Asp | Missense | 9/9 | - |
11-55904828-A-G | OR8J3 | c.367T>C | p.Tyr123His | Missense | 1/1 | - |
14-105407327-G-A | AHNAK2 | c.14461C>T | p.Pro4821Ser | Missense | 7/7 | - |
8-139164185-T-C | FAM135B | c.2533A>G | p.Ile845Val | Missense | 13/20 | - |
8-108334162-G-A | ANGPT1 | c.770C>T | p.Thr257Ile | Missense | 4/9 | - |
9-133901752-C-T | LAMC3 | c.454C>T | p.Arg152Cys | Missense | 2/28 | - |
8-108334162-G-C | ANGPT1 | c.770C>G | p.Thr257Arg | Missense | 4/9 | - |
11-124747467-C-T | ROBO3 | c.2899C>T | p.Pro967Ser | Missense | 20/28 | - |
19-15996828-G-C | CYP4F2 | c.1021C>G | p.Leu341Val | Missense | 9/13 | - |
7-100684550-A-G | MUC17 | c.9853A>G | p.Ser3285Gly | Missense | 3/13 | - |
7-100684550-A-C | MUC17 | c.9853A>C | p.Ser3285Arg | Missense | 3/13 | - |
7-100684550-A-T | MUC17 | c.9853A>T | p.Ser3285Cys | Missense | 3/13 | - |
1-6181605-C-A | CHD5 | c.4728G>T | p.Met1576Ile | Missense | 32/42 | - |
4-42551048-T-C | ATP8A1 | c.1634A>G | p.Asn545Ser | Missense | 19/37 | - |
14-105408827-A-G | AHNAK2 | c.12961T>C | p.Leu4321Leu | Synonymous | 7/7 | - |
19-55993260-A-C | ZNF628 | c.700A>C | p.Thr234Pro | Missense | 3/3 | - |
1-16901710-C-T | NBPF1 | c.2134G>A | p.Asp712Asn | Missense | 20/28 | - |
3-194061810-C-A | CPN2 | c.1622G>T | p.Arg541Leu | Missense | 2/2 | - |
3-194061810-C-T | CPN2 | c.1622G>A | p.Arg541Gln | Missense | 2/2 | - |
19-55993260-A-G | ZNF628 | c.700A>G | p.Thr234Ala | Missense | 3/3 | - |
7-45123090-G-A | NACAD | c.2689C>T | p.Pro897Ser | Missense | 2/8 | - |
12-52967368-C-G | KRT74 | c.194G>C | p.Gly65Ala | Missense | 1/9 | - |
1-220298664-A-G | IARS2 | c.1726A>G | p.Lys576Glu | Missense | 13/23 | - |
12-52967368-C-A | KRT74 | c.194G>T | p.Gly65Val | Missense | 1/9 | - |
1-161969986-G-A | OLFML2B | c.866C>T | p.Pro289Leu | Missense | 5/8 | - |
X-24329812-G-C | SUPT20HL2 | c.1621C>G | p.Leu541Val | Missense | 1/1 | - |
12-52862928-C-G | KRT6C | c.1613G>C | p.Gly538Ala | Missense | 9/9 | - |
X-24329812-G-A | SUPT20HL2 | c.1621C>T | p.Leu541Phe | Missense | 1/1 | - |
6-26184102-G-T | HIST1H2BE | c.79G>T | p.Gly27Cys | Missense | 1/1 | - |
17-4844242-C-T | RNF167 | c.38C>T | p.Ala13Val | Missense | 2/10 | - |
6-26184102-G-C | HIST1H2BE | c.79G>C | p.Gly27Arg | Missense | 1/1 | - |
16-72170408-C-T | PMFBP1 | c.1142G>A | p.Arg381Gln | Missense | 9/21 | - |
17-74018597-T-C | EVPL | c.503A>G | p.Tyr168Cys | Missense | 5/22 | - |
11-614212-C-T | IRF7 | c.641G>A | p.Gly214Glu | Missense | 6/11 | - |
9-34256375-G-A | KIF24 | c.3230C>T | p.Thr1077Met | Missense | 11/13 | - |
X-153420176-A-G | OPN1LW | c.706A>G | p.Met236Val | Missense | 4/6 | - |
3-33893987-A-G | PDCD6IP | c.1664A>G | p.Asn555Ser | Missense | 13/18 | - |
3-46620827-A-G | TDGF1 | c.194A>G | p.Gln65Arg | Missense | 3/6 | - |
19-11472138-T-A | PLPPR2 | c.637T>A | p.Cys213Ser | Missense | 6/10 | - |
11-82444668-C-A | FAM181B | c.104G>T | p.Gly35Val | Missense | 1/1 | - |
11-82444668-C-G | FAM181B | c.104G>C | p.Gly35Ala | Missense | 1/1 | - |
9-136081319-C-T | OBP2B | c.499G>A | p.Val167Ile | Missense | 6/7 | - |
9-136081319-C-G | OBP2B | c.499G>C | p.Val167Leu | Missense | 6/7 | - |
17-74019453-G-A | EVPL | c.400C>T | p.Arg134Cys | Missense | 4/22 | - |
14-105412260-G-T | AHNAK2 | c.9528C>A | p.Asp3176Glu | Missense | 7/7 | - |
22-46793621-T-A | CELSR1 | c.5651A>T | p.Asn1884Ile | Missense | 12/35 | - |
22-46793621-T-C | CELSR1 | c.5651A>G | p.Asn1884Ser | Missense | 12/35 | - |
14-105412260-G-A | AHNAK2 | c.9528C>T | p.Asp3176Asp | Synonymous | 7/7 | - |
19-22498942-G-A | ZNF729 | c.2723G>A | p.Cys908Tyr | Missense | 4/4 | - |
19-22498942-G-C | ZNF729 | c.2723G>C | p.Cys908Ser | Missense | 4/4 | - |
10-76864700-A-G | DUSP13 | c.*727T>C | - | IntronicSNV | 8/8 | - |
10-76864700-A-T | DUSP13 | c.*727T>A | - | IntronicSNV | 8/8 | - |
1-153233510-A-T | LOR | c.85A>T | p.Ser29Cys | Missense | 2/2 | - |
19-15905289-G-T | OR10H5 | c.431G>T | p.Arg144Leu | Missense | 1/1 | - |
16-70572328-A-G | SF3B3 | c.928A>G | p.Ile310Val | Missense | 7/26 | - |
19-57839690-A-T | ZNF543 | c.860A>T | p.Glu287Val | Missense | 4/4 | - |
20-36640870-C-T | TTI1 | c.1349G>A | p.Arg450His | Missense | 3/9 | - |
2-128937391-A-G | UGGT1 | c.3847A>G | p.Lys1283Glu | Missense | 35/41 | - |
15-24921115-C-A | NPAP1 | c.101C>A | p.Pro34Gln | Missense | 1/1 | - |
4-57180563-G-C | KIAA1211 | c.895G>C | p.Gly299Arg | Missense | 8/11 | - |
12-40716238-C-T | LRRK2 | c.5435C>T | p.Ala1812Val | Missense | 37/51 | - |
1-184853890-T-C | FAM129A | c.478A>G | p.Lys160Glu | Missense | 5/14 | - |
9-40702760-T-G | SPATA31A3 | c.417T>G | p.His139Gln | Missense | 4/4 | - |
9-40702760-T-C | SPATA31A3 | c.417T>C | p.His139His | Synonymous | 4/4 | - |
5-178455114-A-G | ZNF879 | c.242A>G | p.Gln81Arg | Missense | 4/5 | - |
21-15873026-T-C | SAMSN1 | c.796A>G | p.Thr266Ala | Missense | 7/9 | - |
5-140604564-G-T | PCDHB14 | c.1487G>T | p.Arg496Leu | Missense | 1/1 | - |
20-1629930-C-T | SIRPG | c.198G>A | p.Trp66* | Nonsense | 2/6 | - |
11-4674574-C-T | OR51E1 | c.818C>T | p.Pro273Leu | Missense | 2/2 | - |
3-39230740-C-T | XIRP1 | c.197G>A | p.Arg66His | Missense | 2/2 | - |
5-140604564-G-C | PCDHB14 | c.1487G>C | p.Arg496Pro | Missense | 1/1 | - |
5-140604564-G-A | PCDHB14 | c.1487G>A | p.Arg496Gln | Missense | 1/1 | - |
11-65629482-G-C | MUS81 | c.416G>C | p.Arg139Pro | Missense | 4/16 | - |
6-117715395-C-T | ROS1 | c.1094G>A | p.Gly365Asp | Missense | 10/43 | - |
11-65629482-G-T | MUS81 | c.416G>T | p.Arg139Leu | Missense | 4/16 | - |
6-117715395-C-G | ROS1 | c.1094G>C | p.Gly365Ala | Missense | 10/43 | - |
1-160057522-C-T | KCNJ9 | c.1097C>T | p.Ala366Val | Missense | 3/3 | - |
1-160057522-C-G | KCNJ9 | c.1097C>G | p.Ala366Gly | Missense | 3/3 | - |
1-160057522-C-A | KCNJ9 | c.1097C>A | p.Ala366Glu | Missense | 3/3 | - |
4-126412106-C-G | FAT4 | c.14129C>G | p.Ser4710Cys | Missense | 17/17 | - |
22-17288789-G-A | XKR3 | c.175C>T | p.Arg59* | Nonsense | 2/4 | - |
1-16914252-C-T | NBPF1 | c.534G>A | p.Glu178Glu | Synonymous | 10/28 | - |
21-47552201-C-G | COL6A2 | c.2795C>G | p.Pro932Arg | Missense | 28/28 | - |
22-17288789-G-C | XKR3 | c.175C>G | p.Arg59Gly | Missense | 2/4 | - |
1-152081623-T-C | TCHH | c.4070A>G | p.Glu1357Gly | Missense | 3/3 | - |
19-56543982-G-A | NLRP5 | c.2282G>A | p.Arg761Gln | Missense | 8/15 | - |
19-56543982-G-T | NLRP5 | c.2282G>T | p.Arg761Leu | Missense | 8/15 | - |
17-37785810-C-G | PPP1R1B | c.160C>G | p.His54Asp | Missense | 3/7 | - |
3-107491892-G-A | BBX | c.1324G>A | p.Ala442Thr | Missense | 11/17 | - |
3-195509515-T-G | MUC4 | c.8936A>C | p.Asp2979Ala | Missense | 2/25 | - |
3-195509515-T-C | MUC4 | c.8936A>G | p.Asp2979Gly | Missense | 2/25 | - |
3-195509515-T-A | MUC4 | c.8936A>T | p.Asp2979Val | Missense | 2/25 | - |
17-37785810-C-A | PPP1R1B | c.160C>A | p.His54Asn | Missense | 3/7 | - |
6-170627739-G-T | FAM120B | c.1261G>T | p.Ala421Ser | Missense | 2/11 | - |
10-76864700-A-C | DUSP13 | c.*727T>G | - | IntronicSNV | 8/8 | - |
6-170627739-G-C | FAM120B | c.1261G>C | p.Ala421Pro | Missense | 2/11 | - |
4-175414330-C-G | HPGD | c.634G>C | p.Asp212His | Missense | 6/7 | - |
12-110474070-T-C | ANKRD13A | c.1514T>C | p.Leu505Pro | Missense | 14/15 | - |
7-63674464-T-C | ZNF735 | c.240T>C | p.Asn80Asn | Synonymous | 3/4 | - |
4-175414330-C-T | HPGD | c.634G>A | p.Asp212Asn | Missense | 6/7 | - |
7-63674464-T-G | ZNF735 | c.240T>G | p.Asn80Lys | Missense | 3/4 | - |
19-991129-G-A | WDR18 | c.790G>A | p.Val264Ile | Missense | 6/10 | - |
6-116575116-G-T | TSPYL4 | c.56C>A | p.Ala19Asp | Missense | 1/1 | - |
1-113162494-G-C | CAPZA1 | c.28G>C | p.Asp10His | Missense | 1/10 | - |
1-113162494-G-A | CAPZA1 | c.28G>A | p.Asp10Asn | Missense | 1/10 | - |
9-139925383-C-T | FUT7 | c.808G>A | p.Ala270Thr | Missense | 2/2 | - |
6-116575116-G-A | TSPYL4 | c.56C>T | p.Ala19Val | Missense | 1/1 | - |
X-24329701-C-T | SUPT20HL2 | c.1732G>A | p.Val578Met | Missense | 1/1 | - |
12-110960196-G-T | RAD9B | c.1105G>T | p.Gly369Trp | Missense | 10/12 | - |
15-43250212-T-C | UBR1 | c.4834A>G | p.Arg1612Gly | Missense | 44/47 | - |
3-16926642-A-T | PLCL2 | c.104A>T | - | missense_variant | 4/9 | - |
3-16926642-A-G | PLCL2 | c.104A>G | - | missense_variant | 4/9 | - |
21-47581949-C-G | SPATC1L | c.115G>C | p.Ala39Pro | Missense | 3/4 | - |
X-135956408-A-G | RBMX | c.1069T>C | p.Tyr357His | Missense | 9/9 | - |
6-1313117-A-C | FOXQ1 | c.178A>C | p.Thr60Pro | Missense | 1/1 | - |
19-56001665-C-A | SSC5D | c.476C>A | p.Ala159Asp | Missense | 5/14 | - |
19-45322904-C-A | BCAM | c.1684C>A | p.Leu562Ile | Missense | 13/15 | - |
19-45322904-C-T | BCAM | c.1684C>T | p.Leu562Phe | Missense | 13/15 | - |
6-158492660-C-T | SYNJ2 | c.1967C>T | p.Thr656Met | Missense | 15/27 | - |
3-52538507-C-G | STAB1 | c.1181C>G | p.Ala394Gly | Missense | 11/69 | - |
17-8402755-T-C | MYH10 | c.3784A>G | p.Thr1262Ala | Missense | 30/43 | - |
12-11461549-G-C | PRB4 | c.368C>G | p.Pro123Arg | Missense | 3/4 | - |
22-38119869-G-A | TRIOBP | c.1306G>A | p.Asp436Asn | Missense | 7/24 | - |
14-105414343-C-T | AHNAK2 | c.7445G>A | p.Arg2482Lys | Missense | 7/7 | - |
19-58421128-C-A | ZNF417 | c.518G>T | p.Arg173Leu | Missense | 3/3 | - |
19-58421128-C-T | ZNF417 | c.518G>A | p.Arg173His | Missense | 3/3 | - |
2-159672251-C-A | DAPL1 | c.242C>A | p.Ala81Glu | Missense | 4/4 | - |
21-47581949-C-T | SPATC1L | c.115G>A | p.Ala39Thr | Missense | 3/4 | - |
6-132909838-G-A | TAAR5 | c.988C>T | p.Arg330Cys | Missense | 1/1 | - |
2-27726437-A-C | GCKR | c.701A>C | p.Gln234Pro | Missense | 9/19 | - |
2-122176275-A-C | CLASP1 | c.2243T>G | p.Met748Arg | Missense | 23/40 | - |
6-138768300-A-C | NHSL1 | c.514T>G | p.Phe172Val | Missense | 4/7 | - |
2-122176275-A-G | CLASP1 | c.2243T>C | p.Met748Thr | Missense | 23/40 | - |
11-1269215-C-G | MUC5B | c.11105C>G | p.Thr3702Arg | Missense | 31/49 | - |
5-140567187-A-G | PCDHB9 | c.295A>G | p.Lys99Glu | Missense | 1/2 | - |
19-21131571-A-G | ZNF85 | c.251A>G | p.Gln84Arg | Missense | 4/4 | - |
11-1269215-C-T | MUC5B | c.11105C>T | p.Thr3702Met | Missense | 31/49 | - |
2-223339437-A-G | SGPP2 | c.370A>G | p.Ile124Val | Missense | 2/5 | - |
1-236180498-C-T | NID1 | c.2204G>A | p.Arg735His | Missense | 10/20 | - |
1-236180498-C-A | NID1 | c.2204G>T | p.Arg735Leu | Missense | 10/20 | - |
14-105408827-A-T | AHNAK2 | c.12961T>A | p.Leu4321Met | Missense | 7/7 | - |
15-75982085-C-T | CSPG4 | c.1321G>A | p.Glu441Lys | Missense | 3/10 | - |
14-105408827-A-C | AHNAK2 | c.12961T>G | p.Leu4321Val | Missense | 7/7 | - |
18-9944924-A-G | VAPA | c.421A>G | p.Ile141Val | Missense | 5/7 | - |
3-66431144-T-C | LRIG1 | c.2912A>G | p.Asp971Gly | Missense | 18/19 | - |
6-170627691-T-A | FAM120B | c.1213T>A | p.Ser405Thr | Missense | 2/11 | - |
16-72170408-C-A | PMFBP1 | c.1142G>T | p.Arg381Leu | Missense | 9/21 | - |
11-4615857-G-A | OR52I1 | c.589G>A | p.Val197Met | Missense | 1/1 | - |
6-46827239-C-T | ADGRF5 | c.2401G>A | p.Val801Ile | Missense | 17/21 | - |
1-247151487-C-T | ZNF695 | c.330G>A | p.Met110Ile | Missense | 4/4 | - |
18-56651514-G-C | ZNF532 | c.3722G>C | p.Gly1241Ala | Missense | 11/11 | - |
3-66431144-T-G | LRIG1 | c.2912A>C | p.Asp971Ala | Missense | 18/19 | - |
3-66431144-T-A | LRIG1 | c.2912A>T | p.Asp971Val | Missense | 18/19 | - |
6-111983038-G-A | FYN | c.1518C>T | p.Asp506Asp | Synonymous | 14/14 | - |
17-27963141-T-C | SSH2 | c.2026A>G | p.Met676Val | Missense | 14/15 | - |
7-148950691-G-A | ZNF212 | c.673G>A | p.Glu225Lys | Missense | 5/5 | - |
3-195512767-T-G | MUC4 | c.5684A>C | p.Asn1895Thr | Missense | 2/25 | - |
4-184572218-G-A | RWDD4 | c.282C>T | p.Thr94Thr | Synonymous | 4/8 | - |
3-195512597-G-A | MUC4 | c.5854C>T | p.Pro1952Ser | Missense | 2/25 | - |
11-4616119-T-C | OR52I1 | c.851T>C | p.Leu284Pro | Missense | 1/1 | - |
19-42861084-G-A | MEGF8 | c.4580G>A | p.Arg1527His | Missense | 26/41 | - |
4-110865150-G-C | EGF | c.662G>C | p.Arg221Thr | Missense | 4/23 | - |
19-41709438-G-A | CYP2S1 | c.1060G>A | p.Asp354Asn | Missense | 7/9 | - |
10-31810514-A-G | ZEB1 | c.2251A>G | p.Thr751Ala | Missense | 7/9 | - |
20-36982754-G-A | LBP | c.439G>A | p.Glu147Lys | Missense | 4/15 | - |
2-233244930-G-T | ALPP | c.692G>T | p.Arg231Leu | Missense | 6/11 | - |
4-140188094-C-T | MGARP | c.382G>A | p.Ala128Thr | Missense | 4/4 | - |
5-41018798-A-G | MROH2B | c.2668T>C | p.Phe890Leu | Missense | 26/42 | - |
11-6048456-G-A | OR56A1 | c.479C>T | p.Ala160Val | Missense | 1/1 | - |
4-128748467-G-A | HSPA4L | c.2054G>A | p.Gly685Asp | Missense | 17/19 | - |
17-5442790-C-T | NLRP1 | c.2815G>A | p.Val939Met | Missense | 7/17 | - |
4-88583745-G-A | DMP1 | c.767G>A | p.Arg256His | Missense | 5/5 | - |
11-118352736-C-T | KMT2A | c.3941C>T | p.Pro1314Leu | Missense | 7/36 | - |
2-130951949-G-A | TUBA3E | c.466C>T | p.Arg156Trp | Missense | 4/5 | - |
11-71548544-A-G | DEFB108B | c.158A>G | p.Gln53Arg | Missense | 2/2 | - |
11-3681054-G-A | ART1 | c.305G>A | p.Arg102His | Missense | 3/5 | - |
17-34891060-C-G | MYO19 | c.-747G>C | - | intergenic_variant | 1/22 | - |
3-195506435-T-G | MUC4 | c.12016A>C | p.Thr4006Pro | Missense | 2/25 | - |
17-5442790-C-A | NLRP1 | c.2815G>T | p.Val939Leu | Missense | 7/17 | - |
1-152636843-A-G | LCE2D | c.262A>G | p.Ser88Gly | Missense | 2/2 | - |
15-79058013-C-G | ADAMTS7 | c.4240G>C | p.Gly1414Arg | Missense | 19/24 | - |
11-118352736-C-A | KMT2A | c.3941C>A | p.Pro1314Gln | Missense | 7/36 | - |
1-11907648-C-T | NPPA | c.94G>A | p.Val32Met | Missense | 1/3 | - |
4-128811117-G-C | PLK4 | c.1460G>C | p.Trp487Ser | Missense | 6/15 | - |
5-145379844-G-C | SH3RF2 | c.602G>C | p.Arg201Pro | Missense | 3/10 | - |
5-145379844-G-A | SH3RF2 | c.602G>A | p.Arg201Gln | Missense | 3/10 | - |
1-12726036-C-T | AADACL4 | c.514C>T | p.His172Tyr | Missense | 4/4 | - |
19-54744799-G-C | LILRA6 | c.863C>G | p.Pro288Arg | Missense | 5/8 | - |
5-55237432-A-C | IL6ST | c.2235T>G | p.Asp745Glu | Missense | 17/17 | - |
16-2025080-G-A | TBL3 | c.616G>A | p.Asp206Asn | Missense | 7/22 | - |
1-110256127-G-A | GSTM5 | c.199G>A | p.Ala67Thr | Missense | 4/8 | - |
9-125620365-C-T | RC3H2 | c.2291G>A | p.Cys764Tyr | Missense | 13/18 | - |
12-9317784-A-G | PZP | c.2438T>C | p.Val813Ala | Missense | 19/36 | - |
2-233244930-G-C | ALPP | c.692G>C | p.Arg231Pro | Missense | 6/11 | - |
2-233244930-G-A | ALPP | c.692G>A | p.Arg231His | Missense | 6/11 | - |
2-238289984-C-G | COL6A3 | c.1471G>C | p.Asp491His | Missense | 5/44 | - |
18-658170-G-C | TYMSOS | c.78C>G | p.Tyr26* | Nonsense | 1/2 | - |
4-13616104-T-C | BOD1L1 | c.890A>G | p.His297Arg | Missense | 4/26 | - |
5-109756435-C-T | TMEM232 | c.1820G>A | p.Arg607Gln | Missense | 14/14 | - |
2-179594107-G-T | TTN | c.15044C>A | p.Thr5015Asn | Missense | 61/312 | - |
17-38975328-G-T | KRT10 | c.1459C>A | p.His487Asn | Missense | 7/8 | - |
14-104194228-A-C | ZFYVE21 | c.335A>C | p.Lys112Thr | Missense | 3/7 | - |
8-121502795-T-G | MTBP | c.1432T>G | p.Leu478Val | Missense | 13/22 | - |
9-130506916-C-T | SH2D3C | c.1256G>A | p.Arg419His | Missense | 6/11 | - |
17-74300497-G-T | QRICH2 | c.206C>A | p.Ala69Glu | Missense | 3/19 | - |
19-36530562-T-C | THAP8 | c.335A>G | p.Lys112Arg | Missense | 3/4 | - |
17-7320874-C-T | NLGN2 | c.2264C>T | p.Ala755Val | Missense | 7/7 | - |
11-5842329-T-G | OR52N2 | c.764T>G | p.Val255Gly | Missense | 1/1 | - |
X-135960119-C-T | RBMX | c.343G>A | p.Gly115Arg | Missense | 4/9 | - |
2-179594107-G-C | TTN | c.15044C>G | p.Thr5015Ser | Missense | 61/312 | - |
15-86311459-C-A | KLHL25 | c.1583G>T | p.Arg528Leu | Missense | 2/3 | - |
15-86311459-C-T | KLHL25 | c.1583G>A | p.Arg528His | Missense | 2/3 | - |
7-4830463-G-A | AP5Z1 | c.2098G>A | p.Val700Met | Missense | 16/17 | - |
2-71738977-G-A | DYSF | c.383G>A | p.Gly128Glu | Missense | 5/55 | - |
19-50902196-C-T | POLD1 | c.88C>T | p.Arg30Trp | Missense | 2/27 | - |
19-45322624-C-T | BCAM | c.1495C>T | p.Arg499Trp | Missense | 12/15 | - |
19-45322624-C-A | BCAM | c.1495C>A | p.Arg499Arg | Synonymous | 12/15 | - |
1-60104049-T-C | FGGY | c.1221+2T>C | - | IntronicSNV | - | 11/16 |
4-145040839-C-T | GYPA | c.232G>A | p.Gly78Arg | Missense | 3/7 | - |
22-46652736-C-T | PKDREJ | c.6484G>A | p.Val2162Ile | Missense | 1/1 | - |
18-658170-G-T | TYMSOS | c.78C>A | p.Tyr26* | Nonsense | 1/2 | - |
7-33028165-G-T | FKBP9 | c.940G>T | p.Val314Leu | Missense | 6/10 | - |
7-33028165-G-C | FKBP9 | c.940G>C | p.Val314Leu | Missense | 6/10 | - |
12-11244149-G-A | TAS2R43 | c.680C>T | p.Ala227Val | Missense | 1/1 | - |
15-33261185-G-T | FMN1 | c.2048C>A | p.Pro683Gln | Missense | 4/17 | - |
22-42523528-C-G | CYP2D6 | c.1094G>C | p.Arg365Pro | Missense | 7/9 | - |
7-100678527-G-T | MUC17 | c.3830G>T | p.Ser1277Ile | Missense | 3/13 | - |
5-178507004-A-T | ZNF354C | c.1571A>T | p.Tyr524Phe | Missense | 5/5 | - |
1-248263471-G-A | OR2L13 | c.794G>A | p.Arg265His | Missense | 3/3 | - |
7-45123823-T-A | NACAD | c.1956A>T | p.Glu652Asp | Missense | 2/8 | - |
11-77920822-C-A | USP35 | c.1921C>A | p.Arg641Arg | Synonymous | 10/11 | - |
7-45123823-T-G | NACAD | c.1956A>C | p.Glu652Asp | Missense | 2/8 | - |
1-152636843-A-T | LCE2D | c.262A>T | p.Ser88Cys | Missense | 2/2 | - |
10-29581493-A-C | LYZL1 | c.185A>C | - | missense_variant | 3/5 | - |
5-843723-C-A | ZDHHC11 | c.620G>T | p.Arg207Met | Missense | 4/13 | - |
12-10224073-T-C | CLEC1A | c.702A>G | p.Arg234Arg | Synonymous | 6/6 | - |
12-10224073-T-G | CLEC1A | c.702A>C | p.Arg234Ser | Missense | 6/6 | - |
6-52702355-C-T | GSTA5 | c.139+1G>A | - | IntronicSNV | - | 3/6 |
6-53133964-C-A | ELOVL5 | c.861G>T | p.Leu287Leu | Synonymous | 8/8 | - |
21-47754471-G-A | PCNT | c.428G>A | p.Arg143His | Missense | 3/47 | - |
14-92922782-G-A | SLC24A4 | c.1085G>A | p.Ser362Asn | Missense | 12/17 | - |
14-68272021-C-A | ZFYVE26 | c.1184G>T | p.Gly395Val | Missense | 8/42 | - |
19-52000187-C-T | SIGLEC12 | c.1546G>A | p.Val516Met | Missense | 7/8 | - |
9-102591042-A-G | NR4A3 | c.718A>G | p.Ser240Gly | Missense | 3/8 | - |
14-76644342-C-T | GPATCH2L | c.1064C>T | p.Ala355Val | Missense | 7/10 | - |
17-39346622-T-A | KRTAP9-1 | c.484T>A | p.Cys162Ser | Missense | 1/1 | - |
3-48463856-G-A | PLXNB1 | c.1303C>T | p.Pro435Ser | Missense | 5/38 | - |
3-195514969-G-T | MUC4 | c.3482C>A | p.Ala1161Glu | Missense | 2/25 | - |
3-195514969-G-A | MUC4 | c.3482C>T | p.Ala1161Val | Missense | 2/25 | - |
20-52198138-T-G | ZNF217 | c.1228A>C | p.Met410Leu | Missense | 1/5 | - |
20-52198138-T-C | ZNF217 | c.1228A>G | p.Met410Val | Missense | 1/5 | - |
14-64588825-C-A | SYNE2 | c.13254C>A | p.Asn4418Lys | Missense | 69/116 | - |
11-73105341-C-G | RELT | c.767C>G | p.Thr256Arg | Missense | 8/11 | - |
11-73105341-C-A | RELT | c.767C>A | p.Thr256Lys | Missense | 8/11 | - |
16-1306642-C-T | TPSD1 | c.208C>T | p.Leu70Phe | Missense | 2/5 | - |
4-89358080-A-C | HERC6 | c.2333A>C | p.Asp778Ala | Missense | 18/22 | - |
5-26885797-T-C | CDH9 | c.1808A>G | p.Glu603Gly | Missense | 11/12 | - |
13-25670676-G-A | PABPC3 | c.340G>A | p.Ala114Thr | Missense | 1/1 | - |
14-105414377-C-A | AHNAK2 | c.7411G>T | p.Val2471Leu | Missense | 7/7 | - |
14-105414377-C-G | AHNAK2 | c.7411G>C | p.Val2471Leu | Missense | 7/7 | - |
X-24329701-C-G | SUPT20HL2 | c.1732G>C | p.Val578Leu | Missense | 1/1 | - |
8-17815082-T-G | PCM1 | c.1838T>G | p.Ile613Ser | Missense | 13/39 | - |
15-43819450-A-C | MAP1A | c.5779A>C | p.Lys1927Gln | Missense | 4/6 | - |
3-98073065-A-T | OR5K4 | c.368A>T | p.Tyr123Phe | Missense | 1/1 | - |
14-64588825-C-T | SYNE2 | c.13254C>T | p.Asn4418Asn | Synonymous | 69/116 | - |
4-184585165-G-A | TRAPPC11 | c.145G>A | p.Val49Ile | Missense | 2/30 | - |
19-7585663-T-C | ZNF358 | c.1535T>C | p.Leu512Pro | Missense | 2/2 | - |
8-11995062-G-A | USP17L2 | c.1208C>T | p.Ala403Val | Missense | 1/1 | - |
16-30976129-T-A | SETD1A | c.1066T>A | p.Ser356Thr | Missense | 7/19 | - |
9-138439086-T-A | OBP2A | c.269T>A | p.Phe90Tyr | Missense | 3/7 | - |
12-52822142-A-G | KRT75 | c.1280T>C | p.Met427Thr | Missense | 7/9 | - |
11-33054856-C-T | DEPDC7 | c.1364C>T | p.Thr455Ile | Missense | 9/9 | - |
1-67724382-A-C | IL23R | c.1461A>C | p.Gln487His | Missense | 11/11 | - |
11-49204779-C-T | FOLH1 | c.842G>A | p.Arg281His | Missense | 7/19 | - |
20-3732265-G-T | HSPA12B | c.1513G>T | p.Ala505Ser | Missense | 13/13 | - |
19-53217339-C-T | ZNF611 | c.119G>A | p.Cys40Tyr | Missense | 6/7 | - |
19-53217339-C-A | ZNF611 | c.119G>T | p.Cys40Phe | Missense | 6/7 | - |
17-39578424-G-T | KRT37 | c.917C>A | p.Ala306Asp | Missense | 5/7 | - |
16-12145791-G-C | SNX29 | c.836G>C | p.Gly279Ala | Missense | 8/21 | - |
11-71712680-A-T | IL18BP | c.507+82A>T | - | IntronicSNV | - | 4/4 |
2-179647297-C-T | TTN | c.3133G>A | p.Val1045Met | Missense | 19/312 | - |
16-12145791-G-A | SNX29 | c.836G>A | p.Gly279Glu | Missense | 8/21 | - |
11-101454192-G-A | TRPC6 | c.43C>T | p.Pro15Ser | Missense | 1/13 | - |
12-58016890-T-G | SLC26A10 | c.1023T>G | p.Asn341Lys | Missense | 7/14 | - |
19-45316588-G-T | BCAM | c.586G>T | p.Val196Leu | Missense | 5/15 | - |
19-45316588-G-A | BCAM | c.586G>A | p.Val196Ile | Missense | 5/15 | - |
16-88599659-G-C | ZFPM1 | c.1293G>C | p.Lys431Asn | Missense | 10/10 | - |
16-88599659-G-A | ZFPM1 | c.1293G>A | p.Lys431Lys | Synonymous | 10/10 | - |
4-124323155-G-A | SPRY1 | c.409G>A | p.Gly137Arg | Missense | 3/3 | - |
4-124323155-G-C | SPRY1 | c.409G>C | p.Gly137Arg | Missense | 3/3 | - |
16-88599659-G-T | ZFPM1 | c.1293G>T | p.Lys431Asn | Missense | 10/10 | - |
5-135288632-A-G | LECT2 | c.71T>C | p.Ile24Thr | Missense | 2/4 | - |
19-39914159-G-A | PLEKHG2 | c.2465G>A | p.Arg822Gln | Missense | 18/19 | - |
6-170627797-A-G | FAM120B | c.1319A>G | p.Tyr440Cys | Missense | 2/11 | - |
16-1291175-G-A | TPSAB1 | c.83G>A | p.Arg28Gln | Missense | 3/6 | - |
1-16901710-C-G | NBPF1 | c.2134G>C | p.Asp712His | Missense | 20/28 | - |
6-152674464-C-A | SYNE1 | c.11187G>T | p.Lys3729Asn | Missense | 69/146 | - |
X-24197706-T-A | ZFX | c.465T>A | p.His155Gln | Missense | 5/10 | - |
14-105418264-G-C | AHNAK2 | c.3524C>G | p.Ala1175Gly | Missense | 7/7 | - |
14-105418264-G-A | AHNAK2 | c.3524C>T | p.Ala1175Val | Missense | 7/7 | - |
4-75937914-G-C | PARM1 | c.323G>C | p.Gly108Ala | Missense | 2/4 | - |
16-67003618-C-T | CES3 | c.1099C>T | p.Arg367Trp | Missense | 9/13 | - |
16-12009279-A-G | GSPT1 | c.299T>C | p.Val100Ala | Missense | 1/15 | - |
16-67003618-C-A | CES3 | c.1099C>A | p.Arg367Arg | Synonymous | 9/13 | - |
4-79188076-T-G | FRAS1 | c.776T>G | p.Leu259Arg | Missense | 8/42 | - |
11-1272167-C-T | MUC5B | c.14057C>T | p.Thr4686Met | Missense | 31/49 | - |
19-17395018-G-A | ANKLE1 | c.1481G>A | p.Arg494Lys | Missense | 7/9 | - |
21-46057422-T-A | TSPEAR | c.83-69533A>T | - | IntronicSNV | - | 1/11 |
21-46057422-T-C | TSPEAR | c.83-69533A>G | - | IntronicSNV | - | 1/11 |
10-118225571-C-A | PNLIPRP3 | c.818C>A | p.Ser273Tyr | Missense | 8/12 | - |
9-136268952-G-T | STKLD1 | c.1603G>T | p.Gly535Cys | Missense | 15/18 | - |
1-152770613-T-G | LCE1D | c.343T>G | - | Missense | 2/2 | - |
21-47754549-G-A | PCNT | c.506G>A | p.Arg169His | Missense | 3/47 | - |
1-1599812-C-A | SLC35E2B | c.934G>T | p.Val312Phe | Missense | 8/9 | - |
1-1599812-C-G | SLC35E2B | c.934G>C | p.Val312Leu | Missense | 8/9 | - |
19-55105722-G-T | LILRA1 | c.13G>T | p.Val5Phe | Missense | 2/10 | - |
2-231120209-G-T | SP140 | c.1202G>T | p.Arg401Leu | Missense | 12/27 | - |
11-824042-C-T | PNPLA2 | c.964C>T | p.Leu322Phe | Missense | 8/10 | - |
1-24447801-T-A | IL22RA1 | c.1219A>T | p.Met407Leu | Missense | 7/7 | - |
2-120005555-G-A | STEAP3 | c.793G>A | p.Val265Met | Missense | 4/6 | - |
19-55715342-C-T | PTPRH | c.353-1652G>A | - | IntronicSNV | - | 3/17 |
X-140994017-T-A | MAGEC1 | c.827T>A | p.Phe276Tyr | Missense | 4/4 | - |
10-118225571-C-T | PNLIPRP3 | c.818C>T | p.Ser273Phe | Missense | 8/12 | - |
7-100678740-T-C | MUC17 | c.4043T>C | p.Leu1348Pro | Missense | 3/13 | - |
1-1599812-C-T | SLC35E2B | c.934G>A | p.Val312Ile | Missense | 8/9 | - |
2-231120209-G-A | SP140 | c.1202G>A | p.Arg401His | Missense | 12/27 | - |
2-231120209-G-C | SP140 | c.1202G>C | p.Arg401Pro | Missense | 12/27 | - |
1-24447801-T-C | IL22RA1 | c.1219A>G | p.Met407Val | Missense | 7/7 | - |
9-133995629-A-T | AIF1L | c.373A>T | p.Met125Leu | Missense | 6/6 | - |
17-79225026-C-G | SLC38A10 | c.2332G>C | p.Ala778Pro | Missense | 14/14 | - |
19-40366240-G-A | FCGBP | c.13994C>T | p.Pro4665Leu | Missense | 30/36 | - |
17-7852724-C-T | CNTROB | c.2608C>T | p.Arg870Cys | Missense | 19/19 | - |
6-27840982-C-T | HIST1H4L | c.307G>A | p.Gly103Ser | Missense | 1/1 | - |
17-7852724-C-G | CNTROB | c.2608C>G | p.Arg870Gly | Missense | 19/19 | - |
15-83502066-C-T | WHAMM | c.2208C>T | p.His736His | Synonymous | 10/10 | - |
19-45296806-C-T | CBLC | c.1213C>T | p.His405Tyr | Missense | 8/11 | - |
5-140221139-G-A | PCDHA1 | c.2394+52870G>A | - | IntronicSNV | - | 1/3 |
19-45296806-C-G | CBLC | c.1213C>G | p.His405Asp | Missense | 8/11 | - |
19-13059563-G-A | RAD23A | c.536G>A | p.Arg179Gln | Missense | 5/9 | - |
13-23904298-T-G | SACS | c.13717A>C | p.Asn4573His | Missense | 10/10 | - |
22-24919586-G-A | UPB1 | c.917-1G>A | - | IntronicSNV | - | 8/9 |
1-12907350-C-T | HNRNPCL1 | c.793G>A | p.Asp265Asn | Missense | 2/2 | - |
11-70331642-G-A | SHANK2 | c.4610C>T | p.Ala1537Val | Missense | 26/27 | - |
1-12854479-C-T | PRAMEF1 | c.703C>T | p.Arg235Cys | Missense | 3/4 | - |
1-24397636-A-G | MYOM3 | c.3121T>C | p.Phe1041Leu | Missense | 25/37 | - |
3-42567381-C-T | VIPR1 | c.295C>T | p.Arg99Cys | Missense | 4/13 | - |
1-201926422-G-A | TIMM17A | c.40G>A | p.Val14Met | Missense | 2/6 | - |
22-21800277-G-A | HIC2 | c.1093G>A | p.Glu365Lys | Missense | 3/3 | - |
16-2140294-C-G | PKD1 | c.12433G>C | p.Val4145Leu | Missense | 45/46 | - |
5-179105675-G-C | CBY3 | c.638C>G | p.Ala213Gly | Missense | 2/2 | - |
10-76855417-C-A | DUSP13 | c.*618G>T | - | 3_prime_UTR_variant | 7/8 | - |
1-151288780-T-G | PI4KB | c.214A>C | p.Lys72Gln | Missense | 3/13 | - |
12-11183708-T-C | TAS2R31 | c.227A>G | p.Tyr76Cys | Missense | 1/1 | - |
13-61989290-A-C | PCDH20 | c.2T>G | p.Met1Arg | Missense | 1/2 | - |
13-61989290-A-G | PCDH20 | c.2T>C | p.Met1Thr | Missense | 1/2 | - |
1-45923405-C-T | TESK2 | c.53G>A | p.Arg18His | Missense | 2/11 | - |
1-12907285-G-A | HNRNPCL1 | c.858C>T | p.Ser286Ser | Synonymous | 2/2 | - |
12-56737251-C-A | STAT2 | c.2478G>T | p.Gln826His | Missense | 24/24 | - |
9-134308126-G-A | PRRC2B | c.238G>A | p.Val80Ile | Missense | 2/31 | - |
22-30189643-G-A | ASCC2 | c.1711C>T | p.Arg571Trp | Missense | 16/20 | - |
X-47705674-C-T | ZNF81 | c.8C>T | p.Ala3Val | Missense | 2/5 | - |
1-45276242-C-G | BTBD19 | c.317C>G | p.Thr106Arg | Missense | 3/8 | - |
7-100677630-C-T | MUC17 | c.2933C>T | p.Pro978Leu | Missense | 3/13 | - |
12-8612294-G-A | CLEC6A | c.223G>A | p.Ala75Thr | Missense | 3/6 | - |
1-20960385-A-C | PINK1 | c.344A>C | p.Gln115Pro | Missense | 1/8 | - |
14-105412259-G-C | AHNAK2 | c.9529C>G | p.Leu3177Val | Missense | 7/7 | - |
14-105412259-G-T | AHNAK2 | c.9529C>A | p.Leu3177Met | Missense | 7/7 | - |
2-109276099-G-T | LIMS1 | c.35G>T | p.Arg12Leu | Missense | 2/10 | - |
10-81317045-G-T | SFTPA2 | c.667C>A | p.Gln223Lys | Missense | 6/6 | - |
1-235866186-C-T | LYST | c.10235G>A | p.Arg3412His | Missense | 45/53 | - |
7-100679760-G-A | MUC17 | c.5063G>A | p.Gly1688Glu | Missense | 3/13 | - |
3-195506435-T-C | MUC4 | c.12016A>G | p.Thr4006Ala | Missense | 2/25 | - |
3-195512767-T-C | MUC4 | c.5684A>G | p.Asn1895Ser | Missense | 2/25 | - |
13-21957120-G-A | ZDHHC20 | c.883C>T | p.Arg295Cys | Missense | 10/12 | - |
4-88537063-A-T | DSPP | c.3249A>T | p.Glu1083Asp | Missense | 5/5 | - |
4-88537063-A-G | DSPP | c.3249A>G | p.Glu1083Glu | Synonymous | 5/5 | - |
18-47318626-T-C | ACAA2 | c.649A>G | p.Met217Val | Missense | 6/10 | - |
7-100677285-G-A | MUC17 | c.2588G>A | p.Gly863Glu | Missense | 3/13 | - |
12-7527284-C-T | CD163L1 | c.3163G>A | p.Gly1055Ser | Missense | 13/20 | - |
14-23859610-C-A | MYH6 | c.3388G>T | p.Ala1130Ser | Missense | 26/39 | - |
14-33015531-A-G | AKAP6 | c.1672A>G | p.Asn558Asp | Missense | 4/14 | - |
11-308314-T-C | IFITM2 | c.122T>C | p.Met41Thr | Missense | 1/2 | - |
11-56756516-G-C | OR5AK2 | c.128G>C | p.Ser43Thr | Missense | 1/1 | - |
1-44202061-G-C | ST3GAL3 | c.128G>C | p.Ser43Thr | Missense | 2/13 | - |
16-70161263-T-A | PDPR | c.328T>A | p.Tyr110Asn | Missense | 4/19 | - |
3-39230740-C-G | XIRP1 | c.197G>C | p.Arg66Pro | Missense | 2/2 | - |
20-48467309-T-G | SLC9A8 | c.545T>G | p.Phe182Cys | Missense | 7/16 | - |
2-135745064-T-C | MAP3K19 | c.1378A>G | p.Ser460Gly | Missense | 7/10 | - |
9-114423924-G-A | GNG10 | c.10G>A | p.Gly4Arg | Missense | 1/3 | - |
16-89258747-A-C | CDH15 | c.1750A>C | p.Lys584Gln | Missense | 11/14 | - |
8-21981218-C-T | HR | c.1859G>A | p.Arg620Gln | Missense | 6/19 | - |
19-51584858-C-T | KLK14 | c.143G>A | - | missense_variant | 4/7 | - |
15-69327727-C-T | NOX5 | c.889C>T | p.Arg297Trp | Missense | 6/16 | - |
15-59806496-G-A | FAM81A | c.659G>A | p.Gly220Asp | Missense | 7/9 | - |
15-59806496-G-T | FAM81A | c.659G>T | p.Gly220Val | Missense | 7/9 | - |
1-161642982-G-T | FCGR2B | c.609G>T | p.Thr203Thr | Synonymous | 4/8 | - |
1-161642982-G-A | FCGR2B | c.609G>A | p.Thr203Thr | Synonymous | 4/8 | - |
16-84778685-A-G | USP10 | c.610A>G | p.Met204Val | Missense | 5/15 | - |
16-31088544-C-A | ZNF646 | c.899C>A | p.Pro300His | Missense | 2/3 | - |
1-12919646-T-C | PRAMEF2 | c.386T>C | p.Met129Thr | Missense | 3/4 | - |
22-23915631-G-A | IGLL1 | c.464C>T | p.Pro155Leu | Missense | 3/3 | - |
2-189918622-G-A | COL5A2 | c.2498C>T | p.Pro833Leu | Missense | 37/54 | - |
14-23744823-A-C | HOMEZ | c.1614T>G | p.Asp538Glu | Missense | 2/2 | - |
16-1306642-C-G | TPSD1 | c.208C>G | p.Leu70Val | Missense | 2/5 | - |
19-36530913-C-A | THAP8 | c.209G>T | p.Arg70Leu | Missense | 2/4 | - |
11-77920822-C-G | USP35 | c.1921C>G | p.Arg641Gly | Missense | 10/11 | - |
1-177242718-T-C | BRINP2 | c.764T>C | p.Val255Ala | Missense | 5/8 | - |
1-11718859-C-T | FBXO44 | c.430C>T | p.Arg144Cys | Missense | 4/5 | - |
1-171179939-G-T | FMO2 | c.*1655G>T | - | 3_prime_UTR_variant | 9/9 | - |
19-15905468-T-G | OR10H5 | c.610T>G | p.Cys204Gly | Missense | 1/1 | - |
14-23744823-A-T | HOMEZ | c.1614T>A | p.Asp538Glu | Missense | 2/2 | - |
13-23907724-C-A | SACS | c.10291G>T | p.Val3431Leu | Missense | 10/10 | - |
13-23907724-C-G | SACS | c.10291G>C | p.Val3431Leu | Missense | 10/10 | - |
X-38020288-G-A | SRPX | c.673C>T | p.Pro225Ser | Missense | 6/10 | - |
4-141294814-G-C | SCOC | c.71-5461G>C | - | IntronicSNV | - | 2/4 |
12-108956417-T-G | ISCU | c.-153T>G | - | 5_prime_UTR_variant | 1/6 | - |
5-118506879-A-T | DMXL1 | c.6393A>T | p.Arg2131Ser | Missense | 24/43 | - |
5-118506879-A-C | DMXL1 | c.6393A>C | p.Arg2131Ser | Missense | 24/43 | - |
19-36530913-C-T | THAP8 | c.209G>A | p.Arg70His | Missense | 2/4 | - |
1-11718859-C-G | FBXO44 | c.430C>G | p.Arg144Gly | Missense | 4/5 | - |
1-11718859-C-A | FBXO44 | c.430C>A | p.Arg144Ser | Missense | 4/5 | - |
14-105416220-T-C | AHNAK2 | c.5568A>G | p.Glu1856Glu | Synonymous | 7/7 | - |
14-105416220-T-A | AHNAK2 | c.5568A>T | p.Glu1856Asp | Missense | 7/7 | - |
14-105416220-T-G | AHNAK2 | c.5568A>C | p.Glu1856Asp | Missense | 7/7 | - |
19-16035680-G-T | CYP4F11 | c.538C>A | p.Arg180Ser | Missense | 5/12 | - |
19-40964447-C-A | BLVRB | c.85G>T | p.Glu29* | Nonsense | 2/5 | - |
19-40964447-C-T | BLVRB | c.85G>A | p.Glu29Lys | Missense | 2/5 | - |
19-15989730-T-C | CYP4F2 | c.1414A>G | p.Thr472Ala | Missense | 13/13 | - |
19-16035680-G-A | CYP4F11 | c.538C>T | p.Arg180Cys | Missense | 5/12 | - |
1-12907285-G-C | HNRNPCL1 | c.858C>G | p.Ser286Arg | Missense | 2/2 | - |
17-7909747-C-T | GUCY2D | c.1093C>T | p.Arg365Trp | Missense | 4/20 | - |
7-136935977-C-A | PTN | c.451G>T | p.Ala151Ser | Missense | 4/5 | - |
3-195506318-C-G | MUC4 | c.12133G>C | p.Asp4045His | Missense | 2/25 | - |
12-52995020-C-T | KRT72 | c.217G>A | p.Gly73Ser | Missense | 1/9 | - |
17-18233949-C-T | SHMT1 | c.1091G>A | p.Arg364His | Missense | 10/12 | - |
3-9918818-C-T | CIDEC | c.139G>A | p.Val47Ile | Missense | 3/6 | - |
17-18233949-C-G | SHMT1 | c.1091G>C | p.Arg364Pro | Missense | 10/12 | - |
2-96781257-C-G | ADRA2B | c.632G>C | p.Gly211Ala | Missense | 1/1 | - |
2-96781257-C-A | ADRA2B | c.632G>T | p.Gly211Val | Missense | 1/1 | - |
14-105417581-C-T | AHNAK2 | c.4207G>A | p.Glu1403Lys | Missense | 7/7 | - |
17-39254247-A-T | KRTAP4-8 | c.90T>A | p.Cys30* | Nonsense | 1/1 | - |
10-88782100-G-C | FAM25A | c.103G>C | p.Val35Leu | Missense | 2/3 | - |
11-63449125-C-A | RTN3 | c.17C>A | p.Ala6Glu | Missense | 1/7 | - |
6-17637697-G-C | NUP153 | c.2244C>G | p.Asp748Glu | Missense | 17/23 | - |
22-43618695-C-A | SCUBE1 | c.1381G>T | p.Ala461Ser | Missense | 12/22 | - |
22-51183255-A-G | ACR | c.886A>G | p.Met296Val | Missense | 5/5 | - |
1-201754444-G-C | NAV1 | c.2811G>C | p.Gln937His | Missense | 8/30 | - |
19-40902776-C-G | PRX | c.*1688G>C | - | 3-UTRSNV | 6/6 | - |
11-124742385-G-A | ROBO3 | c.1267G>A | p.Val423Met | Missense | 8/28 | - |
5-109756435-C-G | TMEM232 | c.1820G>C | p.Arg607Pro | Missense | 14/14 | - |
4-155411948-C-T | DCHS2 | c.560G>A | p.Arg187His | Missense | 1/8 | - |
19-15234351-C-T | ILVBL | c.172G>A | p.Val58Met | Missense | 3/16 | - |
21-45959256-C-A | TSPEAR | c.304-5450G>T | - | IntronicSNV | - | 2/11 |
21-45959256-C-G | TSPEAR | c.304-5450G>C | - | IntronicSNV | - | 2/11 |
19-51919286-G-A | SIGLEC10 | c.890C>T | p.Ser297Leu | Missense | 5/11 | - |
12-56514414-G-A | ZC3H10 | c.68G>A | p.Ser23Asn | Missense | 3/3 | - |
16-46755060-T-C | MYLK3 | c.1960A>G | p.Ile654Val | Missense | 9/13 | - |
16-46755060-T-A | MYLK3 | c.1960A>T | p.Ile654Phe | Missense | 9/13 | - |
7-82784588-C-T | PCLO | c.1369G>A | p.Gly457Arg | Missense | 2/20 | - |
7-100635535-C-G | MUC12 | c.1691C>G | p.Ser564Cys | Missense | 2/12 | - |
7-100635535-C-T | MUC12 | c.1691C>T | p.Ser564Phe | Missense | 2/12 | - |
5-140626566-A-C | PCDHB15 | c.1420A>C | p.Ser474Arg | Missense | 1/1 | - |
3-69230592-T-G | FRMD4B | c.2309A>C | p.Asn770Thr | Missense | 21/23 | - |
19-53268990-C-G | ZNF600 | c.2019G>C | p.Lys673Asn | Missense | 3/3 | - |
14-45645715-A-G | FANCM | c.3758A>G | p.Asn1253Ser | Missense | 14/23 | - |
14-45645715-A-T | FANCM | c.3758A>T | p.Asn1253Ile | Missense | 14/23 | - |
20-42355213-G-A | GTSF1L | c.122C>T | p.Ala41Val | Missense | 1/1 | - |
13-25021263-T-C | PARP4 | c.3176A>G | p.Gln1059Arg | Missense | 26/34 | - |
12-129189702-C-G | TMEM132C | c.2189C>G | p.Thr730Ser | Missense | 9/9 | - |
3-195505960-G-A | MUC4 | c.12491C>T | p.Thr4164Ile | Missense | 2/25 | - |
3-195505960-G-C | MUC4 | c.12491C>G | p.Thr4164Ser | Missense | 2/25 | - |
9-43625382-G-A | SPATA31A6 | c.3305C>T | p.Pro1102Leu | Missense | 4/4 | - |
7-144015437-C-G | OR2A1 | c.220C>G | p.Arg74Gly | Missense | 1/1 | - |
19-41627868-G-A | CYP2F1 | c.652G>A | p.Asp218Asn | Missense | 6/10 | - |
17-30372739-C-T | LRRC37B | c.2144C>T | p.Ala715Val | Missense | 8/12 | - |
14-39716830-C-A | MIA2 | c.1052C>A | p.Ala351Asp | Missense | 4/6 | - |
14-39716830-C-G | MIA2 | c.1052C>G | p.Ala351Gly | Missense | 4/6 | - |
14-39716830-C-T | MIA2 | c.1052C>T | p.Ala351Val | Missense | 4/6 | - |
14-105418223-A-G | AHNAK2 | c.3565T>C | p.Ser1189Pro | Missense | 7/7 | - |
7-100187349-T-A | FBXO24 | c.3+83T>A | - | IntronicSNV | - | 1/9 |
19-11470370-C-T | PLPPR2 | c.229C>T | p.Leu77Leu | Synonymous | 4/10 | - |
19-11470370-C-G | PLPPR2 | c.229C>G | p.Leu77Val | Missense | 4/10 | - |
X-6451886-A-G | VCX3A | c.461T>C | p.Leu154Pro | Missense | 3/3 | - |
3-195509402-T-G | MUC4 | c.9049A>C | p.Ile3017Leu | Missense | 2/25 | - |
3-195507086-C-G | MUC4 | c.11365G>C | p.Asp3789His | Missense | 2/25 | - |
1-33235789-C-A | KIAA1522 | c.832C>A | p.Pro278Thr | Missense | 6/7 | - |
4-155407595-C-A | DCHS2 | c.2052+2861G>T | - | IntronicSNV | - | 1/7 |
1-33235789-C-T | KIAA1522 | c.832C>T | p.Pro278Ser | Missense | 6/7 | - |
9-33385863-G-T | AQP7 | c.527C>A | p.Ala176Glu | Missense | 7/8 | - |
7-92732769-T-C | SAMD9 | c.2642A>G | p.Asp881Gly | Missense | 3/3 | - |
16-4557846-A-T | HMOX2 | c.337A>T | p.Met113Leu | Missense | 5/7 | - |
1-114367793-C-T | PTPN22 | c.2252G>A | p.Ser751Asn | Missense | 19/21 | - |
8-144944226-G-A | EPPK1 | c.3196C>T | p.Arg1066Cys | Missense | 2/3 | - |
7-143632618-C-T | OR2F2 | c.293C>T | p.Ala98Val | Missense | 1/1 | - |
16-4557846-A-G | HMOX2 | c.337A>G | p.Met113Val | Missense | 5/7 | - |
14-104194228-A-G | ZFYVE21 | c.335A>G | p.Lys112Arg | Missense | 3/7 | - |
6-44233679-G-A | NFKBIE | c.1-179C>T | - | IntergenicSNV | 1/6 | - |
16-1291622-A-G | TPSAB1 | c.421A>G | p.Thr141Ala | Missense | 4/6 | - |
1-109801345-C-T | CELSR2 | c.3602C>T | p.Pro1201Leu | Missense | 2/34 | - |
4-155411948-C-A | DCHS2 | c.560G>T | p.Arg187Leu | Missense | 1/8 | - |
1-17287301-A-G | CROCC | c.4081A>G | p.Thr1361Ala | Missense | 27/37 | - |
7-39504094-A-C | POU6F2 | c.1885A>C | p.Asn629His | Missense | 11/11 | - |
17-61987812-A-G | CSHL1 | c.274T>C | p.Ser92Pro | Missense | 3/5 | - |
11-49076898-T-G | TRIM64C | c.823A>C | p.Ile275Leu | Missense | 5/6 | - |
17-76121031-C-T | TMC6 | c.572G>A | p.Gly191Asp | Missense | 7/20 | - |
15-81180069-C-T | CEMIP | c.832C>T | p.Pro278Ser | Missense | 7/29 | - |
12-11546192-G-T | PRB2 | c.820C>A | p.Pro274Thr | Missense | 3/4 | - |
X-6451929-C-G | VCX3A | c.418G>C | p.Val140Leu | Missense | 3/3 | - |
7-142563253-T-A | EPHB6 | c.94T>A | p.Ser32Thr | Missense | 7/19 | - |
7-142563253-T-G | EPHB6 | c.94T>G | p.Ser32Ala | Missense | 7/19 | - |
16-89883007-A-T | FANCA | c.17T>A | p.Val6Asp | Missense | 1/43 | - |
14-70924566-C-G | ADAM21 | c.350C>G | p.Ala117Gly | Missense | 2/2 | - |
14-70924566-C-A | ADAM21 | c.350C>A | p.Ala117Glu | Missense | 2/2 | - |
5-140568412-C-T | PCDHB9 | c.1518C>T | - | synonymous_variant | 2/2 | - |
11-72413997-G-A | ARAP1 | c.2120C>T | p.Ala707Val | Missense | 15/35 | - |
17-7220881-C-T | NEURL4 | c.4217G>A | p.Arg1406His | Missense | 27/29 | - |
19-40408821-C-T | FCGBP | c.4018G>A | p.Val1340Met | Missense | 8/36 | - |
10-135025208-A-G | KNDC1 | c.4082A>G | p.Lys1361Arg | Missense | 23/30 | - |
22-39908419-C-T | MIEF1 | c.505C>T | p.Arg169Trp | Missense | 5/6 | - |
18-76754584-G-T | SALL3 | c.2593G>T | p.Val865Leu | Missense | 2/3 | - |
15-79058951-T-A | ADAMTS7 | c.3302A>T | p.His1101Leu | Missense | 19/24 | - |
21-46057418-G-A | TSPEAR | c.83-69529C>T | - | IntronicSNV | - | 1/11 |
21-46057418-G-C | TSPEAR | c.83-69529C>G | - | IntronicSNV | - | 1/11 |
7-100679136-T-C | MUC17 | c.4439T>C | p.Val1480Ala | Missense | 3/13 | - |
6-38850809-C-A | DNAH8 | c.7982C>A | p.Thr2661Asn | Missense | 54/93 | - |
6-38850809-C-G | DNAH8 | c.7982C>G | p.Thr2661Ser | Missense | 54/93 | - |
15-83718875-T-C | BTBD1 | c.614A>G | p.Lys205Arg | Missense | 3/7 | - |
11-60184277-A-G | MS4A14 | c.1785A>G | p.Gln595Gln | Synonymous | 4/4 | - |
21-43786532-C-T | TFF1 | c.73G>A | p.Glu25Lys | Missense | 1/3 | - |
X-6451929-C-T | VCX3A | c.418G>A | p.Val140Met | Missense | 3/3 | - |
5-140595343-G-T | PCDHB13 | c.1648G>T | p.Val550Leu | Missense | 1/1 | - |
17-5037195-G-A | USP6 | c.398G>A | p.Arg133Lys | Missense | 7/30 | - |
5-140595343-G-C | PCDHB13 | c.1648G>C | p.Val550Leu | Missense | 1/1 | - |
5-140595343-G-A | PCDHB13 | c.1648G>A | p.Val550Met | Missense | 1/1 | - |
14-105419234-T-A | AHNAK2 | c.2554A>T | p.Met852Leu | Missense | 7/7 | - |
7-100684593-G-T | MUC17 | c.9896G>T | p.Ser3299Ile | Missense | 3/13 | - |
14-105419234-T-C | AHNAK2 | c.2554A>G | p.Met852Val | Missense | 7/7 | - |
19-15905505-T-C | OR10H5 | c.647T>C | p.Leu216Pro | Missense | 1/1 | - |
X-140994017-T-C | MAGEC1 | c.827T>C | p.Phe276Ser | Missense | 4/4 | - |
14-24534916-G-T | CARMIL3 | c.3482G>T | p.Gly1161Val | Missense | 34/40 | - |
1-16890602-T-C | NBPF1 | c.3481A>G | - | missense_variant | 28/28 | - |
1-16890602-T-G | NBPF1 | c.3481A>C | - | missense_variant | 28/28 | - |
17-295630-A-T | RFLNB | c.377T>A | - | missense_variant | 1/2 | - |
4-90857479-G-C | MMRN1 | c.2648G>C | p.Gly883Ala | Missense | 6/8 | - |
4-90857479-G-A | MMRN1 | c.2648G>A | p.Gly883Asp | Missense | 6/8 | - |
11-126075608-G-A | RPUSD4 | c.626C>T | p.Ala209Val | Missense | 4/7 | - |
11-56468638-G-T | OR9G1 | c.775G>T | p.Ala259Ser | Missense | 1/1 | - |
19-54744210-A-G | LILRA6 | c.1198T>C | p.Tyr400His | Missense | 6/8 | - |
10-29581601-G-T | LYZL1 | c.431G>T | p.Cys144Phe | Missense | 5/5 | - |
10-29581601-G-A | LYZL1 | c.431G>A | p.Cys144Tyr | Missense | 5/5 | - |
17-38975328-G-C | KRT10 | c.1459C>G | p.His487Asp | Missense | 7/8 | - |
17-38975328-G-A | KRT10 | c.1459C>T | p.His487Tyr | Missense | 7/8 | - |
X-20252889-A-C | RPS6KA3 | c.113T>G | p.Ile38Ser | Missense | 2/22 | - |
17-4693342-C-A | GLTPD2 | c.627C>A | p.Asp209Glu | Missense | 4/4 | - |
1-153233510-A-G | LOR | c.85A>G | p.Ser29Gly | Missense | 2/2 | - |
2-102851671-C-T | IL1RL2 | c.1612C>T | p.Pro538Ser | Missense | 11/12 | - |
X-54978373-C-T | PFKFB1 | c.745G>A | p.Gly249Arg | Missense | 8/14 | - |
11-34988311-C-T | PDHX | c.766C>T | p.Pro256Ser | Missense | 6/11 | - |
6-135751024-G-A | AHI1 | c.2488C>T | p.Arg830Trp | Missense | 17/28 | - |
7-6844574-C-A | CCZ1B | c.1101G>T | p.Met367Ile | Missense | 12/15 | - |
2-190571776-A-G | ANKAR | c.2023A>G | p.Ile675Val | Missense | 9/23 | - |
7-6844574-C-G | CCZ1B | c.1101G>C | p.Met367Ile | Missense | 12/15 | - |
17-48542714-G-T | CHAD | c.1025C>A | p.Ala342Asp | Missense | 3/4 | - |
20-19937312-G-A | RIN2 | c.359G>A | p.Cys120Tyr | Missense | 4/12 | - |
11-18729488-C-T | IGSF22 | c.3143G>A | p.Arg1048Gln | Missense | 20/23 | - |
1-25747156-T-C | RHCE | c.122A>G | p.Gln41Arg | Missense | 1/10 | - |
20-62194510-T-C | HELZ2 | c.5665A>G | p.Thr1889Ala | Missense | 9/20 | - |
19-51523074-A-G | KLK10 | c.-13+2T>C | - | splice_donor_variant | - | 1/5 |
17-40822308-C-A | PLEKHH3 | c.1641G>T | p.Gln547His | Missense | 11/13 | - |
19-5867177-G-A | FUT5 | c.560C>T | p.Pro187Leu | Missense | 2/2 | - |
22-19511925-G-C | CLDN5 | c.109C>G | p.Gln37Glu | Missense | 2/2 | - |
6-149068627-A-C | UST | c.61A>C | p.Met21Leu | Missense | 1/8 | - |
15-34646769-G-A | NUTM1 | c.1114G>A | p.Val372Ile | Missense | 6/8 | - |
7-72992858-C-G | TBL2 | c.22G>C | p.Glu8Gln | Missense | 1/7 | - |
7-72992858-C-T | TBL2 | c.22G>A | p.Glu8Lys | Missense | 1/7 | - |
9-95640171-C-T | ZNF484 | c.-31+1G>A | - | splice_donor_variant | - | 1/4 |
7-33028165-G-A | FKBP9 | c.940G>A | p.Val314Met | Missense | 6/10 | - |
19-10671912-T-G | KRI1 | c.536A>C | p.Asp179Ala | Missense | 7/19 | - |
7-100646824-C-A | MUC12 | c.12980C>A | p.Thr4327Asn | Missense | 2/12 | - |
7-100646824-C-T | MUC12 | c.12980C>T | p.Thr4327Ile | Missense | 2/12 | - |
12-112037000-G-C | ATXN2 | c.-162C>G | - | 5_prime_UTR_variant | 1/25 | - |
18-44555147-T-G | KATNAL2 | c.1-24198T>G | - | IntronicSNV | - | 1/14 |
5-134345125-A-G | CATSPER3 | c.881A>G | p.Lys294Arg | Missense | 6/8 | - |
22-42523528-C-T | CYP2D6 | c.1094G>A | p.Arg365His | Missense | 7/9 | - |
19-39229089-A-G | CAPN12 | c.859T>C | p.Cys287Arg | Missense | 7/21 | - |
16-4383398-G-T | GLIS2 | c.223G>T | p.Ala75Ser | Missense | 2/6 | - |
3-119343970-G-C | PLA1A | c.965-1G>C | - | IntronicSNV | - | 8/10 |
13-38211702-T-G | TRPC4 | c.2287A>C | p.Lys763Gln | Missense | 11/11 | - |
11-47711820-A-G | AGBL2 | c.1439T>C | p.Leu480Pro | Missense | 10/19 | - |
9-2191388-G-A | SMARCA2 | c.4717G>A | p.Asp1573Asn | Missense | 33/34 | - |
9-2191388-G-C | SMARCA2 | c.4717G>C | p.Asp1573His | Missense | 33/34 | - |
19-10385488-C-T | ICAM1 | c.115C>T | p.Pro39Ser | Missense | 2/7 | - |
6-137245567-C-A | SLC35D3 | c.984C>A | p.Asp328Glu | Missense | 2/2 | - |
19-58864480-G-C | A1BG | c.154C>G | p.His52Asp | Missense | 3/8 | - |
12-69140339-G-C | SLC35E3 | c.182G>C | p.Cys61Ser | Missense | 1/5 | - |
6-137245567-C-G | SLC35D3 | c.984C>G | p.Asp328Glu | Missense | 2/2 | - |
X-23933912-G-A | CXorf58 | c.311+1G>A | - | IntronicSNV | - | 4/8 |
3-42732452-C-T | KLHL40 | c.1709C>T | p.Thr570Met | Missense | 5/6 | - |
6-149068627-A-T | UST | c.61A>T | p.Met21Leu | Missense | 1/8 | - |
5-178507004-A-G | ZNF354C | c.1571A>G | p.Tyr524Cys | Missense | 5/5 | - |
12-122845698-C-A | CLIP1 | c.813G>T | p.Leu271Phe | Missense | 5/25 | - |
7-100677714-C-T | MUC17 | c.3017C>T | p.Thr1006Ile | Missense | 3/13 | - |
16-89348038-G-T | ANKRD11 | c.4912C>A | p.Pro1638Thr | Missense | 9/13 | - |
1-12856010-C-G | PRAMEF1 | c.1290C>G | p.Phe430Leu | Missense | 4/4 | - |
17-31618997-C-A | ASIC2 | c.556-179912G>T | - | IntronicSNV | - | 1/9 |
3-186395437-G-A | HRG | c.1343G>A | p.Arg448His | Missense | 7/7 | - |
12-11461706-G-C | PRB4 | c.211C>G | p.Pro71Ala | Missense | 3/4 | - |
12-11461706-G-T | PRB4 | c.211C>A | p.Pro71Thr | Missense | 3/4 | - |
17-39254257-G-T | KRTAP4-8 | c.80C>A | p.Pro27His | Missense | 1/1 | - |
22-27019264-G-A | CRYBA4 | c.106G>A | p.Val36Met | Missense | 3/6 | - |
11-71507205-C-A | FAM86C1 | c.302C>A | p.Pro101Gln | Missense | 3/4 | - |
17-39503163-G-A | KRT33A | c.809C>T | p.Ala270Val | Missense | 5/7 | - |
9-39171471-C-A | CNTNAP3 | c.1228G>T | p.Gly410Cys | Missense | 8/24 | - |
4-10089539-T-C | WDR1 | c.323A>G | p.His108Arg | Missense | 5/12 | - |
19-53086598-G-A | ZNF701 | c.1286G>A | p.Arg429His | Missense | 4/4 | - |
1-248084464-T-C | OR2T8 | c.145T>C | p.Trp49Arg | Missense | 1/1 | - |
1-248084464-T-G | OR2T8 | c.145T>G | p.Trp49Gly | Missense | 1/1 | - |
21-47703746-A-G | MCM3AP | c.1226T>C | p.Leu409Pro | Missense | 2/28 | - |
1-228504670-C-T | OBSCN | c.13546C>T | p.Arg4516Trp | Missense | 51/81 | - |
18-34740290-A-C | KIAA1328 | c.1360A>C | p.Lys454Gln | Missense | 8/10 | - |
1-3679886-C-T | CCDC27 | c.1169C>T | p.Pro390Leu | Missense | 7/12 | - |
22-25294369-G-A | SGSM1 | c.2618G>A | p.Arg873Lys | Missense | 20/26 | - |
11-551741-C-T | LRRC56 | c.887C>T | p.Ser296Phe | Missense | 10/14 | - |
2-215815751-T-G | ABCA12 | c.6704A>C | p.Glu2235Ala | Missense | 45/53 | - |
14-105418223-A-T | AHNAK2 | c.3565T>A | p.Ser1189Thr | Missense | 7/7 | - |
19-23543095-T-C | ZNF91 | c.2686A>G | p.Thr896Ala | Missense | 4/4 | - |
21-43531325-C-T | UMODL1 | c.1899+94C>T | - | IntronicSNV | - | 11/22 |
5-23527565-A-G | PRDM9 | c.2368A>G | p.Asn790Asp | Missense | 11/11 | - |
4-120528064-A-C | PDE5A | c.541T>G | p.Ser181Ala | Missense | 2/21 | - |
2-75937801-C-T | GCFC2 | c.181G>A | p.Val61Ile | Missense | 1/17 | - |
7-75051368-T-C | POM121C | c.2167A>G | p.Thr723Ala | Missense | 13/15 | - |
9-130506916-C-A | SH2D3C | c.1256G>T | p.Arg419Leu | Missense | 6/11 | - |
11-551741-C-A | LRRC56 | c.887C>A | p.Ser296Tyr | Missense | 10/14 | - |
17-39254257-G-C | KRTAP4-8 | c.80C>G | p.Pro27Arg | Missense | 1/1 | - |
19-10102492-G-T | COL5A3 | c.1919C>A | p.Pro640Gln | Missense | 23/67 | - |
19-10102492-G-A | COL5A3 | c.1919C>T | p.Pro640Leu | Missense | 23/67 | - |
3-186461524-C-A | KNG1 | c.*1404C>A | - | IntergenicSNV | 10/10 | - |
3-186461524-C-T | KNG1 | c.*1404C>T | - | IntergenicSNV | 10/10 | - |
21-11049621-G-T | BAGE2 | c.280C>A | p.Arg94Arg | Synonymous | 4/10 | - |
21-11049621-G-A | BAGE2 | c.280C>T | p.Arg94* | Nonsense | 4/10 | - |
19-9578370-C-T | ZNF560 | c.1253G>A | p.Gly418Asp | Missense | 10/10 | - |
16-4165439-G-T | ADCY9 | c.5C>A | p.Ala2Asp | Missense | 2/11 | - |
15-24921115-C-T | NPAP1 | c.101C>T | p.Pro34Leu | Missense | 1/1 | - |
11-62543326-C-T | TAF6L | c.71C>T | p.Thr24Met | Missense | 2/11 | - |
3-132337477-C-T | ACAD11 | c.1414+1G>A | - | IntronicSNV | - | 11/19 |
3-132337477-C-A | ACAD11 | c.1414+1G>T | - | IntronicSNV | - | 11/19 |
3-52538507-C-T | STAB1 | c.1181C>T | p.Ala394Val | Missense | 11/69 | - |
10-51827934-G-A | WASHC2A | c.73G>A | p.Val25Met | Missense | 2/31 | - |
14-105416959-A-T | AHNAK2 | c.4829T>A | p.Val1610Glu | Missense | 7/7 | - |
3-125648343-G-T | ALG1L | c.416C>A | p.Ser139* | Nonsense | 6/6 | - |
16-11362819-G-A | TNP2 | c.301C>T | p.Arg101Cys | Missense | 1/2 | - |
1-152785170-G-A | LCE1B | c.248G>A | p.Arg83His | Missense | 1/1 | - |
5-140559596-T-G | PCDHB8 | c.1981T>G | p.Leu661Val | Missense | 1/1 | - |
11-56468638-G-A | OR9G1 | c.775G>A | p.Ala259Thr | Missense | 1/1 | - |
22-24574137-C-G | CABIN1 | c.6636C>G | p.Asp2212Glu | Missense | 37/37 | - |
22-24574137-C-A | CABIN1 | c.6636C>A | p.Asp2212Glu | Missense | 37/37 | - |
22-24574137-C-T | CABIN1 | c.6636C>T | p.Asp2212Asp | Synonymous | 37/37 | - |
13-24465537-C-T | C1QTNF9B | c.893G>A | p.Gly298Glu | Missense | 3/3 | - |
13-23907724-C-T | SACS | c.10291G>A | p.Val3431Ile | Missense | 10/10 | - |
17-81009636-T-G | B3GNTL1 | c.37A>C | p.Ser13Arg | Missense | 1/13 | - |
21-15593485-C-A | RBM11 | c.327C>A | p.Asn109Lys | Missense | 3/5 | - |
15-62989946-C-T | TLN2 | c.1352C>T | p.Ala451Val | Missense | 12/56 | - |
6-170627695-A-G | FAM120B | c.1217A>G | p.Asp406Gly | Missense | 2/11 | - |
16-11023415-G-A | DEXI | c.*151C>T | - | splice_region_variant,3_prime_UTR_variant | 2/2 | - |
14-64580075-T-G | SYNE2 | c.12626T>G | p.Ile4209Ser | Missense | 66/116 | - |
14-64580075-T-C | SYNE2 | c.12626T>C | p.Ile4209Thr | Missense | 66/116 | - |
4-153874666-G-A | FHDC1 | c.514G>A | p.Ala172Thr | Missense | 2/11 | - |
10-73594215-C-A | PSAP | c.88G>T | p.Ala30Ser | Missense | 2/14 | - |
3-125648343-G-A | ALG1L | c.416C>T | p.Ser139Leu | Missense | 6/6 | - |
16-3304626-C-T | MEFV | c.442G>A | p.Glu148Lys | Missense | 2/10 | - |
13-24895745-A-G | C1QTNF9 | c.841A>G | p.Met281Val | Missense | 4/4 | - |
X-153418514-G-C | OPN1LW | c.511G>C | p.Val171Leu | Missense | 3/6 | - |
13-24465537-C-G | C1QTNF9B | c.893G>C | p.Gly298Ala | Missense | 3/3 | - |
21-47552201-C-T | COL6A2 | c.2795C>T | p.Pro932Leu | Missense | 28/28 | - |
12-112478316-G-A | NAA25 | c.2507C>T | p.Thr836Ile | Missense | 21/24 | - |
11-47270313-G-A | ACP2 | c.28C>T | p.Arg10Trp | Missense | 1/11 | - |
1-16730308-G-A | SPATA21 | c.915C>T | p.His305His | Synonymous | 10/13 | - |
1-16730308-G-T | SPATA21 | c.915C>A | p.His305Gln | Missense | 10/13 | - |
7-30649268-C-T | GARS | c.803C>T | p.Thr268Ile | Missense | 7/17 | - |
X-49179711-A-T | GAGE12J | c.39A>T | p.Arg13Ser | Missense | 2/5 | - |
5-112888882-A-T | YTHDC2 | c.1693A>T | p.Thr565Ser | Missense | 13/30 | - |
7-100678740-T-A | MUC17 | c.4043T>A | p.Leu1348Gln | Missense | 3/13 | - |
1-47078762-T-C | MOB3C | c.388A>G | p.Met130Val | Missense | 2/4 | - |
1-159890163-T-C | TAGLN2 | c.137A>G | p.Gln46Arg | Missense | 2/5 | - |
1-159890163-T-A | TAGLN2 | c.137A>T | p.Gln46Leu | Missense | 2/5 | - |
12-8376068-T-C | FAM90A1 | c.409A>G | p.Thr137Ala | Missense | 6/7 | - |
2-97527061-A-G | SEMA4C | c.1804T>C | p.Ser602Pro | Missense | 15/15 | - |
16-2140294-C-T | PKD1 | c.12433G>A | p.Val4145Ile | Missense | 45/46 | - |
2-97527061-A-T | SEMA4C | c.1804T>A | p.Ser602Thr | Missense | 15/15 | - |
4-122250654-G-A | QRFPR | c.1111C>T | p.Arg371Trp | Missense | 6/6 | - |
15-79058013-C-T | ADAMTS7 | c.4240G>A | p.Gly1414Ser | Missense | 19/24 | - |
7-143021535-C-T | CLCN1 | c.803C>T | p.Thr268Met | Missense | 7/23 | - |
17-42476576-G-A | GPATCH8 | c.2869C>T | p.Arg957Trp | Missense | 8/8 | - |
4-122250654-G-T | QRFPR | c.1111C>A | p.Arg371Arg | Synonymous | 6/6 | - |
X-8138165-C-G | VCX2 | c.328G>C | p.Val110Leu | Missense | 3/3 | - |
6-39552754-T-C | KIF6 | c.997A>G | p.Ile333Val | Missense | 9/23 | - |
4-6302838-T-G | WFS1 | c.1316T>G | p.Phe439Cys | Missense | 8/8 | - |
9-114423924-G-C | GNG10 | c.10G>C | p.Gly4Arg | Missense | 1/3 | - |
11-68377475-A-G | PPP6R3 | c.2314A>G | p.Ser772Gly | Missense | 22/23 | - |
5-176759170-C-A | LMAN2 | c.988G>T | p.Ala330Ser | Missense | 8/8 | - |
19-39876646-A-G | PAF1 | c.1581T>C | p.Asp527Asp | Synonymous | 14/14 | - |
5-96506959-T-C | RIOK2 | c.730A>G | p.Met244Val | Missense | 6/10 | - |
6-37614063-C-G | MDGA1 | c.2135G>C | p.Arg712Pro | Missense | 11/17 | - |
2-225244352-G-A | FAM124B | c.*612C>T | - | 3_prime_UTR_variant | 3/3 | - |
2-112620003-T-C | ANAPC1 | c.1225A>G | p.Ile409Val | Missense | 10/48 | - |
8-442580-G-A | TDRP | c.377C>T | p.Thr126Ile | Missense | 4/4 | - |
8-442580-G-T | TDRP | c.377C>A | p.Thr126Asn | Missense | 4/4 | - |
19-14165598-C-T | PALM3 | c.886G>A | - | missense_variant | 7/7 | - |
15-33261185-G-A | FMN1 | c.2048C>T | p.Pro683Leu | Missense | 4/17 | - |
19-52888049-C-A | ZNF880 | c.1216C>A | p.Gln406Lys | Missense | 4/4 | - |
11-77920822-C-T | USP35 | c.1921C>T | p.Arg641Trp | Missense | 10/11 | - |
3-44488293-T-C | ZNF445 | c.2870A>G | p.Glu957Gly | Missense | 8/8 | - |
16-1537455-T-C | PTX4 | c.643A>G | p.Arg215Gly | Missense | 2/3 | - |
11-51516036-G-A | OR4C46 | c.755G>A | p.Cys252Tyr | Missense | 1/1 | - |
3-105264176-G-T | ALCAM | c.1101G>T | p.Met367Ile | Missense | 9/16 | - |
X-49957346-G-C | AKAP4 | c.2018C>G | p.Ala673Gly | Missense | 5/6 | - |
22-44063042-C-T | EFCAB6 | c.1925G>A | p.Arg642Gln | Missense | 17/32 | - |
10-88635779-C-A | BMPR1A | c.4C>A | p.Pro2Thr | Missense | 3/13 | - |
21-43531264-C-A | UMODL1 | c.1899+33C>A | - | IntronicSNV | - | 11/22 |
5-154395470-A-G | KIF4B | c.2051A>G | p.Tyr684Cys | Missense | 1/1 | - |
17-57775279-C-T | PTRH2 | c.61G>A | p.Val21Ile | Missense | 2/2 | - |
14-70924566-C-T | ADAM21 | c.350C>T | p.Ala117Val | Missense | 2/2 | - |
1-94486794-A-G | ABCA4 | c.5018+2T>C | - | IntronicSNV | - | 35/49 |
1-94486794-A-T | ABCA4 | c.5018+2T>A | - | IntronicSNV | - | 35/49 |
11-7847129-G-C | OR5P3 | c.391C>G | p.Leu131Val | Missense | 1/1 | - |
1-169510348-T-C | F5 | c.3980A>G | p.His1327Arg | Missense | 13/25 | - |
13-60566644-T-C | DIAPH3 | c.1088A>G | p.Asn363Ser | Missense | 10/28 | - |
8-145154676-C-T | SHARPIN | c.589G>A | p.Val197Ile | Missense | 4/9 | - |
9-21207005-C-G | IFNA10 | c.92G>C | p.Ser31Thr | Missense | 1/1 | - |
8-59571856-A-C | NSMAF | c.59+276T>G | - | IntronicSNV | - | 1/30 |
10-46999289-C-T | GPRIN2 | c.409C>T | p.Arg137Trp | Missense | 3/3 | - |
6-149068627-A-G | UST | c.61A>G | p.Met21Val | Missense | 1/8 | - |
1-60104049-T-G | FGGY | c.1221+2T>G | - | IntronicSNV | - | 11/16 |
17-7637938-A-G | DNAH2 | c.890A>G | p.Lys297Arg | Missense | 7/86 | - |
16-89348038-G-C | ANKRD11 | c.4912C>G | p.Pro1638Ala | Missense | 9/13 | - |
16-89348038-G-A | ANKRD11 | c.4912C>T | p.Pro1638Ser | Missense | 9/13 | - |
11-556531-C-G | LMNTD2 | c.1034G>C | p.Cys345Ser | Missense | 9/14 | - |
3-39228676-T-G | XIRP1 | c.2261A>C | p.Gln754Pro | Missense | 2/2 | - |
12-42499811-G-A | GXYLT1 | c.673C>T | p.Pro225Ser | Missense | 5/8 | - |
6-143784092-A-G | PEX3 | c.245A>G | p.Gln82Arg | Missense | 3/12 | - |
8-17815082-T-C | PCM1 | c.1838T>C | p.Ile613Thr | Missense | 13/39 | - |
19-374338-A-C | THEG | c.392T>G | p.Leu131Arg | Missense | 2/8 | - |
19-23557502-G-A | ZNF91 | c.95C>T | p.Thr32Ile | Missense | 2/4 | - |
7-150325454-T-C | GIMAP6 | c.232A>G | p.Thr78Ala | Missense | 3/3 | - |
X-70466490-G-C | ZMYM3 | c.2367C>G | p.Asn789Lys | Missense | 14/25 | - |
5-140869229-G-A | PCDHGC3 | c.2431-5145G>A | - | IntronicSNV | - | 1/3 |
16-27761090-G-A | KIAA0556 | c.2809G>A | p.Asp937Asn | Missense | 16/28 | - |
16-27761090-G-T | KIAA0556 | c.2809G>T | p.Asp937Tyr | Missense | 16/28 | - |
22-37964429-T-C | CDC42EP1 | c.778T>C | p.Ser260Pro | Missense | 3/3 | - |
7-102246311-T-C | RASA4 | c.422A>G | p.Glu141Gly | Missense | 5/21 | - |
15-102264476-C-A | TARSL2 | c.115G>T | p.Ala39Ser | Missense | 1/19 | - |
15-102264476-C-T | TARSL2 | c.115G>A | p.Ala39Thr | Missense | 1/19 | - |
20-58455447-A-T | SYCP2 | c.2852T>A | p.Ile951Asn | Missense | 31/45 | - |
14-105416959-A-G | AHNAK2 | c.4829T>C | p.Val1610Ala | Missense | 7/7 | - |
X-8138165-C-T | VCX2 | c.328G>A | p.Val110Met | Missense | 3/3 | - |
20-44640275-G-A | MMP9 | c.886G>A | p.Gly296Ser | Missense | 6/13 | - |
3-15614707-C-T | HACL1 | c.952G>A | p.Ala318Thr | Missense | 11/17 | - |
17-28548810-C-G | SLC6A4 | c.167G>C | p.Gly56Ala | Missense | 3/15 | - |
11-7847129-G-A | OR5P3 | c.391C>T | p.Leu131Phe | Missense | 1/1 | - |
1-156206158-C-T | PMF1-BGLAP | c.387C>T | p.Gly129Gly | Synonymous | 4/7 | - |
10-97192285-C-G | SORBS1 | c.221G>C | p.Arg74Pro | Missense | 4/31 | - |
10-97192285-C-T | SORBS1 | c.221G>A | p.Arg74Gln | Missense | 4/31 | - |
14-24799164-G-A | ADCY4 | c.1119C>T | p.Ser373Ser | Synonymous | 8/25 | - |
14-24799164-G-T | ADCY4 | c.1119C>A | p.Ser373Arg | Missense | 8/25 | - |
8-110510964-A-C | PKHD1L1 | c.10792A>C | p.Ser3598Arg | Missense | 67/78 | - |
7-105658381-C-T | CDHR3 | c.1516C>T | p.Leu506Phe | Missense | 12/19 | - |
1-145293425-C-A | NBPF10 | c.20C>A | p.Pro7His | Missense | 1/86 | - |
3-195517183-G-A | MUC4 | c.1268C>T | p.Ser423Phe | Missense | 2/25 | - |
6-33690691-C-G | IP6K3 | c.1039G>C | p.Glu347Gln | Missense | 6/6 | - |
14-102898363-C-T | TECPR2 | c.1315C>T | p.Pro439Ser | Missense | 8/20 | - |
17-30348768-C-T | LRRC37B | c.603C>T | p.Ser201Ser | Synonymous | 1/12 | - |
17-30348768-C-G | LRRC37B | c.603C>G | p.Ser201Arg | Missense | 1/12 | - |
7-100677944-T-C | MUC17 | c.3247T>C | p.Ser1083Pro | Missense | 3/13 | - |
17-5461726-C-T | NLRP1 | c.2290G>A | p.Val764Met | Missense | 4/17 | - |
10-25312168-C-G | THNSL1 | c.16C>G | p.Arg6Gly | Missense | 3/3 | - |
1-145293425-C-G | NBPF10 | c.20C>G | p.Pro7Arg | Missense | 1/86 | - |
5-825286-G-A | ZDHHC11 | c.1016C>T | p.Thr339Met | Missense | 8/13 | - |
7-22532260-A-G | STEAP1B | c.686T>C | p.Ile229Thr | Missense | 4/5 | - |
11-12316389-A-C | MICALCL | c.1411A>C | p.Thr471Pro | Missense | 3/9 | - |
5-140475980-G-A | PCDHB2 | c.1606G>A | p.Ala536Thr | Missense | 1/1 | - |
5-140475980-G-T | PCDHB2 | c.1606G>T | p.Ala536Ser | Missense | 1/1 | - |
14-105408811-A-G | AHNAK2 | c.12977T>C | p.Leu4326Pro | Missense | 7/7 | - |
11-1651140-T-C | KRTAP5-5 | c.70T>C | p.Cys24Arg | Missense | 1/1 | - |
10-25312168-C-T | THNSL1 | c.16C>T | p.Arg6* | Nonsense | 3/3 | - |
2-190719607-G-A | PMS1 | c.1609G>A | p.Glu537Lys | Missense | 9/13 | - |
2-240964714-G-C | NDUFA10 | c.5C>G | p.Ala2Gly | Missense | 1/10 | - |
8-7308386-T-G | SPAG11B | c.*15A>C | - | 3-UTRSNV | 4/4 | - |
8-7308386-T-A | SPAG11B | c.*15A>T | - | 3-UTRSNV | 4/4 | - |
12-48538908-G-A | PFKM | c.2087G>A | p.Arg696His | Missense | 21/23 | - |
11-49076898-T-C | TRIM64C | c.823A>G | p.Ile275Val | Missense | 5/6 | - |
5-32074573-G-A | PDZD2 | c.3361G>A | p.Val1121Met | Missense | 18/25 | - |
11-73105341-C-T | RELT | c.767C>T | p.Thr256Met | Missense | 8/11 | - |
3-51990119-A-C | GPR62 | c.451A>C | p.Thr151Pro | Missense | 1/1 | - |
3-51990119-A-G | GPR62 | c.451A>G | p.Thr151Ala | Missense | 1/1 | - |
12-11091206-G-C | TAS2R14 | c.601C>G | p.Leu201Val | Missense | 1/1 | - |
11-55889895-C-T | OR8H3 | c.47C>T | p.Thr16Met | Missense | 1/1 | - |
1-13183249-C-A | HNRNPCL2 | c.624G>T | p.Gln208His | Missense | 2/2 | - |
X-153175784-G-A | ARHGAP4 | c.1997C>T | p.Pro666Leu | Missense | 17/22 | - |
X-135956462-G-C | RBMX | c.1015C>G | p.Arg339Gly | Missense | 9/9 | - |
1-17292975-G-A | CROCC | c.4769G>A | p.Arg1590His | Missense | 30/37 | - |
1-17292975-G-T | CROCC | c.4769G>T | p.Arg1590Leu | Missense | 30/37 | - |
11-33308469-G-T | HIPK3 | c.509G>T | p.Gly170Val | Missense | 2/17 | - |
11-33308469-G-A | HIPK3 | c.509G>A | p.Gly170Glu | Missense | 2/17 | - |
19-43680147-C-T | PSG5 | c.584G>A | p.Arg195Gln | Missense | 3/6 | - |
19-43680147-C-G | PSG5 | c.584G>C | p.Arg195Pro | Missense | 3/6 | - |
17-260299-G-A | C17orf97 | c.166G>A | p.Glu56Lys | Missense | 1/2 | - |
2-159672251-C-T | DAPL1 | c.242C>T | p.Ala81Val | Missense | 4/4 | - |
11-78369281-C-T | TENM4 | c.8132G>A | p.Arg2711Gln | Missense | 34/34 | - |
10-50669459-C-G | ERCC6 | c.3922G>C | p.Val1308Leu | Missense | 19/21 | - |
16-336916-C-T | PDIA2 | c.1504C>T | p.Pro502Ser | Missense | 10/11 | - |
15-65369395-C-T | KBTBD13 | c.242C>T | p.Ala81Val | Missense | 1/1 | - |
16-52473564-G-A | TOX3 | c.1304C>T | p.Ser435Leu | Missense | 7/7 | - |
7-100678610-A-G | MUC17 | c.3913A>G | p.Thr1305Ala | Missense | 3/13 | - |
1-25633210-G-A | RHD | c.1063G>A | p.Gly355Ser | Missense | 7/10 | - |
17-20370767-G-C | LGALS9B | c.17C>G | p.Ser6Cys | Missense | 1/11 | - |
17-20370767-G-A | LGALS9B | c.17C>T | p.Ser6Phe | Missense | 1/11 | - |
21-46057417-A-C | TSPEAR | c.83-69528T>G | - | IntronicSNV | - | 1/11 |
12-113623241-C-G | DDX54 | c.16G>C | p.Gly6Arg | Missense | 1/20 | - |
21-46057417-A-T | TSPEAR | c.83-69528T>A | - | IntronicSNV | - | 1/11 |
10-96798669-T-C | CYP2C8 | c.1276A>G | p.Met426Val | Missense | 8/9 | - |
3-195506446-G-T | MUC4 | c.12005C>A | p.Pro4002His | Missense | 2/25 | - |
1-169510348-T-G | F5 | c.3980A>C | p.His1327Pro | Missense | 13/25 | - |
10-101295456-T-G | NKX2-3 | c.1073T>G | p.Leu358Trp | Missense | 2/2 | - |
8-98656966-G-T | MTDH | c.232G>T | p.Ala78Ser | Missense | 1/12 | - |
4-184585165-G-C | TRAPPC11 | c.145G>C | p.Val49Leu | Missense | 2/30 | - |
16-89883007-A-C | FANCA | c.17T>G | p.Val6Gly | Missense | 1/43 | - |
3-195509573-A-C | MUC4 | c.8878T>G | p.Ser2960Ala | Missense | 2/25 | - |
7-128415071-C-T | OPN1SW | c.490G>A | p.Val164Ile | Missense | 2/5 | - |
21-34924550-G-T | SON | c.3013G>T | p.Ala1005Ser | Missense | 3/12 | - |
3-122103141-C-T | FAM162A | c.29C>T | p.Ala10Val | Missense | 1/5 | - |
13-48985639-C-A | RB1 | c.1695+30060C>A | - | IntronicSNV | - | 17/26 |
12-53876569-C-T | MAP3K12 | c.1919G>A | p.Gly640Asp | Missense | 12/15 | - |
X-135956506-C-G | RBMX | c.971G>C | p.Arg324Pro | Missense | 9/9 | - |
19-51919321-T-C | SIGLEC10 | c.855A>G | p.Thr285Thr | Synonymous | 5/11 | - |
19-14590279-G-C | GIPC1 | c.713C>G | p.Thr238Ser | Missense | 7/9 | - |
19-38894102-G-A | FAM98C | c.190G>A | p.Ala64Thr | Missense | 2/8 | - |
8-11990314-G-A | USP17L7 | c.1205C>T | p.Pro402Leu | Missense | 1/1 | - |
8-11990314-G-C | USP17L7 | c.1205C>G | p.Pro402Arg | Missense | 1/1 | - |
19-9009640-C-T | MUC16 | c.39086G>A | p.Arg13029His | Missense | 39/84 | - |
X-44091831-C-T | EFHC2 | c.1516G>A | p.Glu506Lys | Missense | 10/15 | - |
16-4391463-C-T | CORO7-PAM16 | c.2900G>A | p.Arg967Gln | Missense | 29/31 | - |
5-82816190-A-G | VCAN | c.2065A>G | p.Thr689Ala | Missense | 7/15 | - |
9-110249816-G-A | KLF4 | c.859C>T | p.His287Tyr | Missense | 3/5 | - |
9-125895238-C-T | STRBP | c.1741G>A | p.Val581Ile | Missense | 17/19 | - |
17-39305820-C-T | KRTAP4-5 | c.200G>A | p.Arg67His | Missense | 1/1 | - |
6-74496984-A-G | CD109 | c.2365A>G | p.Lys789Glu | Missense | 21/33 | - |
22-37964429-T-A | CDC42EP1 | c.778T>A | p.Ser260Thr | Missense | 3/3 | - |
11-94326720-A-G | PIWIL4 | c.1063A>G | p.Met355Val | Missense | 9/20 | - |
6-35285719-A-C | DEF6 | c.859A>C | p.Asn287His | Missense | 6/11 | - |
3-52852106-C-A | ITIH4 | c.2258G>T | p.Arg753Leu | Missense | 20/24 | - |
12-113623241-C-T | DDX54 | c.16G>A | p.Gly6Ser | Missense | 1/20 | - |
18-76754584-G-A | SALL3 | c.2593G>A | p.Val865Met | Missense | 2/3 | - |
3-53914093-G-A | ACTR8 | c.167C>T | p.Thr56Ile | Missense | 2/13 | - |
19-35719076-C-T | FAM187B | c.508G>A | p.Glu170Lys | Missense | 1/2 | - |
4-70080139-C-T | UGT2B11 | c.302G>A | p.Arg101Gln | Missense | 1/6 | - |
17-39305820-C-G | KRTAP4-5 | c.200G>C | p.Arg67Pro | Missense | 1/1 | - |
3-49723750-A-C | MST1 | c.1012T>G | p.Cys338Gly | Missense | 8/18 | - |
3-49723750-A-G | MST1 | c.1012T>C | p.Cys338Arg | Missense | 8/18 | - |
11-49208267-G-A | FOLH1 | c.568C>T | p.Arg190Trp | Missense | 5/19 | - |
3-52852106-C-T | ITIH4 | c.2258G>A | p.Arg753His | Missense | 20/24 | - |
4-89352440-A-C | HERC6 | c.2125A>C | p.Met709Leu | Missense | 16/22 | - |
12-15834192-T-A | EPS8 | c.104A>T | p.His35Leu | Missense | 3/21 | - |
12-15834192-T-C | EPS8 | c.104A>G | p.His35Arg | Missense | 3/21 | - |
3-52282458-C-G | PPM1M | c.903C>G | p.His301Gln | Missense | 6/10 | - |
11-47270313-G-T | ACP2 | c.28C>A | p.Arg10Arg | Synonymous | 1/11 | - |
12-8329652-A-G | ZNF705A | c.376A>G | p.Thr126Ala | Missense | 5/5 | - |
12-8329652-A-T | ZNF705A | c.376A>T | p.Thr126Ser | Missense | 5/5 | - |
19-48602995-G-A | PLA2G4C | c.410C>T | p.Ala137Val | Missense | 5/17 | - |
2-241621869-G-T | AQP12B | c.386C>A | p.Thr129Lys | Missense | 1/3 | - |
2-241621869-G-A | AQP12B | c.386C>T | p.Thr129Met | Missense | 1/3 | - |
17-5461726-C-G | NLRP1 | c.2290G>C | p.Val764Leu | Missense | 4/17 | - |
9-35841510-C-G | TMEM8B | c.1-926C>G | - | IntronicSNV | - | 1/10 |
1-15794011-A-G | CELA2A | c.770A>G | p.Asn257Ser | Missense | 7/8 | - |
4-107157623-G-A | TBCK | c.1085C>T | p.Thr362Met | Missense | 12/24 | - |
9-34256375-G-T | KIF24 | c.3230C>A | p.Thr1077Lys | Missense | 11/13 | - |
10-127462934-G-A | MMP21 | c.163C>T | p.Arg55Trp | Missense | 2/7 | - |
6-20490428-G-T | E2F3 | c.772G>T | p.Asp258Tyr | Missense | 7/7 | - |
8-68421768-G-C | CPA6 | c.518C>G | p.Ser173Cys | Missense | 5/11 | - |
14-105415608-G-A | AHNAK2 | c.6180C>T | p.His2060His | Synonymous | 7/7 | - |
10-70992634-C-A | HKDC1 | c.341C>A | p.Thr114Lys | Missense | 3/18 | - |
16-11781741-G-C | TXNDC11 | c.2125C>G | p.Leu709Val | Missense | 10/12 | - |
11-102201850-G-A | BIRC3 | c.1202G>A | p.Arg401Lys | Missense | 6/9 | - |
11-124135662-A-G | OR8G5 | c.940A>G | p.Thr314Ala | Missense | 1/1 | - |
3-12192749-G-T | SYN2 | c.321G>T | p.Trp107Cys | Missense | 2/14 | - |
17-33491164-A-T | UNC45B | c.1130A>T | p.Lys377Met | Missense | 8/19 | - |
8-74334931-A-C | STAU2 | c.1537T>G | p.Leu513Val | Missense | 14/15 | - |
8-74334931-A-T | STAU2 | c.1537T>A | p.Leu513Ile | Missense | 14/15 | - |
21-11049623-T-C | BAGE2 | c.280-2A>G | - | IntronicSNV | - | 3/9 |
16-72094221-C-T | HP | c.653C>T | p.Ala218Val | Missense | 7/7 | - |
16-72094221-C-A | HP | c.653C>A | p.Ala218Asp | Missense | 7/7 | - |
X-26157773-A-G | MAGEB18 | c.671A>G | p.Asn224Ser | Missense | 2/3 | - |
22-38477275-G-A | SLC16A8 | c.770C>T | p.Ala257Val | Missense | 4/5 | - |
17-33768381-T-C | SLFN13 | c.1927A>G | p.Arg643Gly | Missense | 6/6 | - |
2-130949511-C-T | TUBA3E | c.1246G>A | p.Gly416Arg | Missense | 5/5 | - |
10-70992634-C-T | HKDC1 | c.341C>T | p.Thr114Met | Missense | 3/18 | - |
11-1619396-C-T | KRTAP5-2 | c.85G>A | p.Gly29Arg | Missense | 1/1 | - |
9-39171471-C-T | CNTNAP3 | c.1228G>A | p.Gly410Ser | Missense | 8/24 | - |
3-12192749-G-A | SYN2 | c.321G>A | p.Trp107* | Nonsense | 2/14 | - |
14-64518321-A-G | SYNE2 | c.7690A>G | p.Ile2564Val | Missense | 48/116 | - |
17-33491164-A-G | UNC45B | c.1130A>G | p.Lys377Arg | Missense | 8/19 | - |
16-3708192-C-G | TRAP1 | c.2053G>C | p.Asp685His | Missense | 18/18 | - |
16-19726275-C-T | KNOP1 | c.83G>A | p.Arg28Gln | Missense | 2/5 | - |
1-233802497-G-A | KCNK1 | c.512G>A | p.Arg171His | Missense | 2/3 | - |
12-66704276-A-C | HELB | c.1568A>C | p.Gln523Pro | Missense | 4/14 | - |
3-27436597-G-A | SLC4A7 | c.2686C>T | p.Pro896Ser | Missense | 19/25 | - |
3-123440977-T-C | MYLK | c.1802A>G | p.His601Arg | Missense | 13/34 | - |
6-12290906-G-T | EDN1 | c.44G>T | p.Cys15Phe | Missense | 1/5 | - |
6-12290906-G-C | EDN1 | c.44G>C | p.Cys15Ser | Missense | 1/5 | - |
1-152185824-G-T | HRNR | c.8281C>A | p.Arg2761Arg | Synonymous | 3/3 | - |
16-20396159-T-C | PDILT | c.217A>G | p.Lys73Glu | Missense | 3/12 | - |
1-152185824-G-A | HRNR | c.8281C>T | p.Arg2761* | Nonsense | 3/3 | - |
21-10959771-A-G | TPTE | c.203T>C | p.Val68Ala | Missense | 8/24 | - |
19-13869786-G-A | CCDC130 | c.362G>A | p.Arg121His | Missense | 7/10 | - |
21-10959771-A-T | TPTE | c.203T>A | p.Val68Asp | Missense | 8/24 | - |
12-58201263-C-T | AVIL | c.1342G>A | p.Ala448Thr | Missense | 12/19 | - |
20-60893697-C-T | LAMA5 | c.7052G>A | p.Arg2351Gln | Missense | 53/80 | - |
22-31008867-T-C | TCN2 | c.265T>C | p.Phe89Leu | Missense | 3/9 | - |
21-35514749-A-T | MRPS6 | c.227A>T | p.Glu76Val | Missense | 3/3 | - |
17-74276788-T-C | QRICH2 | c.3910A>G | p.Lys1304Glu | Missense | 10/19 | - |
17-16068340-C-T | NCOR1 | c.571G>A | p.Glu191Lys | Missense | 5/46 | - |
19-53116940-T-A | ZNF83 | c.878A>T | p.Glu293Val | Missense | 3/3 | - |
19-58084588-G-A | ZNF416 | c.684C>T | p.His228His | Synonymous | 4/4 | - |
19-58084588-G-C | ZNF416 | c.684C>G | p.His228Gln | Missense | 4/4 | - |
17-5037281-T-C | USP6 | c.484T>C | p.Tyr162His | Missense | 7/30 | - |
6-108395700-C-G | OSTM1 | c.156G>C | p.Leu52Phe | Missense | 1/6 | - |
17-7220881-C-A | NEURL4 | c.4217G>T | p.Arg1406Leu | Missense | 27/29 | - |
10-102824292-G-A | KAZALD1 | c.707G>A | p.Gly236Asp | Missense | 4/5 | - |
17-9408381-C-T | STX8 | c.422G>A | p.Arg141Gln | Missense | 5/8 | - |
20-1592215-C-G | SIRPB1 | c.76+8300G>C | - | IntronicSNV | - | 1/5 |
1-161172233-C-T | NDUFS2 | c.58C>T | p.Pro20Ser | Missense | 2/15 | - |
1-161172233-C-A | NDUFS2 | c.58C>A | p.Pro20Thr | Missense | 2/15 | - |
1-161172233-C-G | NDUFS2 | c.58C>G | p.Pro20Ala | Missense | 2/15 | - |
1-213058700-T-G | FLVCR1 | c.1158T>G | p.Ile386Met | Missense | 5/10 | - |
7-27170145-T-A | HOXA4 | c.208A>T | p.Thr70Ser | Missense | 1/2 | - |
7-27170145-T-G | HOXA4 | c.208A>C | p.Thr70Pro | Missense | 1/2 | - |
7-42005678-G-A | GLI3 | c.2993C>T | p.Pro998Leu | Missense | 15/15 | - |
1-16070763-C-T | TMEM82 | c.445C>T | p.Arg149Cys | Missense | 4/6 | - |
7-135376041-G-A | SLC13A4 | c.1351C>T | p.Pro451Ser | Missense | 13/16 | - |
19-14507976-G-A | ADGRE5 | c.566G>A | p.Arg189His | Missense | 6/20 | - |
2-46603764-T-A | EPAS1 | c.1121T>A | p.Phe374Tyr | Missense | 9/16 | - |
18-60021761-C-T | TNFRSF11A | c.421C>T | p.His141Tyr | Missense | 4/9 | - |
19-17036087-C-T | CPAMD8 | c.3466G>A | - | missense_variant | 26/42 | - |
7-42005678-G-C | GLI3 | c.2993C>G | p.Pro998Arg | Missense | 15/15 | - |
17-36889559-C-T | CISD3 | c.235C>T | p.Arg79Cys | Missense | 4/4 | - |
3-125648209-C-T | ALG1L | c.550G>A | p.Gly184Ser | Missense | 6/6 | - |
3-52420315-C-T | DNAH1 | c.8765C>T | p.Ala2922Val | Missense | 55/78 | - |
14-105417766-G-A | AHNAK2 | c.4022C>T | p.Ser1341Phe | Missense | 7/7 | - |
14-105417766-G-C | AHNAK2 | c.4022C>G | p.Ser1341Cys | Missense | 7/7 | - |
10-49658943-G-A | ARHGAP22 | c.1229C>T | p.Thr410Met | Missense | 9/10 | - |
3-52420315-C-G | DNAH1 | c.8765C>G | p.Ala2922Gly | Missense | 55/78 | - |
2-208632817-G-A | FZD5 | c.647C>T | p.Pro216Leu | Missense | 2/2 | - |
3-98073065-A-C | OR5K4 | c.368A>C | p.Tyr123Ser | Missense | 1/1 | - |
14-105415608-G-C | AHNAK2 | c.6180C>G | p.His2060Gln | Missense | 7/7 | - |
11-102248406-A-G | BIRC2 | c.1546A>G | p.Lys516Glu | Missense | 7/9 | - |
2-208632817-G-T | FZD5 | c.647C>A | p.Pro216His | Missense | 2/2 | - |
11-51411918-C-A | OR4A5 | c.478G>T | p.Val160Leu | Missense | 1/1 | - |
11-51411918-C-T | OR4A5 | c.478G>A | p.Val160Met | Missense | 1/1 | - |
9-21207000-C-G | IFNA10 | c.97G>C | p.Gly33Arg | Missense | 1/1 | - |
12-113730816-C-T | TPCN1 | c.2191C>T | p.Arg731Trp | Missense | 26/28 | - |
19-2222325-G-A | DOT1L | c.3157G>A | p.Ala1053Thr | Missense | 24/28 | - |
19-40408821-C-G | FCGBP | c.4018G>C | p.Val1340Leu | Missense | 8/36 | - |
9-21207000-C-A | IFNA10 | c.97G>T | p.Gly33Cys | Missense | 1/1 | - |
9-21207000-C-T | IFNA10 | c.97G>A | p.Gly33Ser | Missense | 1/1 | - |
11-551204-C-T | LRRC56 | c.698C>T | p.Pro233Leu | Missense | 9/14 | - |
11-551204-C-G | LRRC56 | c.698C>G | p.Pro233Arg | Missense | 9/14 | - |
1-1271853-G-C | DVL1 | c.1682C>G | p.Pro561Arg | Missense | 15/15 | - |
17-5037195-G-C | USP6 | c.398G>C | p.Arg133Thr | Missense | 7/30 | - |
9-133995629-A-G | AIF1L | c.373A>G | p.Met125Val | Missense | 6/6 | - |
7-27170145-T-C | HOXA4 | c.208A>G | p.Thr70Ala | Missense | 1/2 | - |
7-48314151-C-G | ABCA13 | c.4888C>G | p.Leu1630Val | Missense | 17/62 | - |
3-195506750-G-C | MUC4 | c.11701C>G | p.His3901Asp | Missense | 2/25 | - |
1-144952207-C-T | PDE4DIP | c.923G>A | p.Arg308Lys | Missense | 7/7 | - |
10-76855417-C-T | DUSP13 | c.*618G>A | - | 3_prime_UTR_variant | 7/8 | - |
11-2424647-G-A | TSSC4 | c.784G>A | p.Gly262Arg | Missense | 3/3 | - |
9-97082699-G-A | NUTM2F | c.1159C>T | p.Pro387Ser | Missense | 5/7 | - |
9-126136139-C-T | CRB2 | c.3329C>T | p.Thr1110Met | Missense | 10/13 | - |
5-148206885-C-T | ADRB2 | c.491C>T | p.Thr164Ile | Missense | 1/1 | - |
19-21606719-C-A | ZNF493 | c.874C>A | p.Leu292Ile | Missense | 2/2 | - |
19-21606719-C-G | ZNF493 | c.874C>G | p.Leu292Val | Missense | 2/2 | - |
11-85436439-A-G | SYTL2 | c.1061T>C | p.Phe354Ser | Missense | 7/20 | - |
4-8418148-T-G | ACOX3 | c.101A>C | p.Glu34Ala | Missense | 2/17 | - |
22-24579157-G-T | SUSD2 | c.209G>T | p.Gly70Val | Missense | 2/15 | - |
11-49186274-G-A | FOLH1 | c.1423C>T | p.His475Tyr | Missense | 13/19 | - |
15-83502065-A-C | WHAMM | c.2207A>C | p.His736Pro | Missense | 10/10 | - |
15-83502065-A-G | WHAMM | c.2207A>G | p.His736Arg | Missense | 10/10 | - |
12-108956418-T-A | ISCU | c.-152T>A | - | 5_prime_UTR_variant | 1/6 | - |
1-222801661-A-T | MIA3 | c.1099A>T | p.Thr367Ser | Missense | 4/28 | - |
12-108956418-T-G | ISCU | c.-152T>G | - | 5_prime_UTR_variant | 1/6 | - |
12-129190266-G-A | TMEM132C | c.2753G>A | p.Arg918Gln | Missense | 9/9 | - |
17-37840860-G-C | PGAP3 | c.422C>G | p.Ala141Gly | Missense | 3/8 | - |
12-129190266-G-C | TMEM132C | c.2753G>C | p.Arg918Pro | Missense | 9/9 | - |
16-50338341-C-T | ADCY7 | c.1439C>T | p.Ala480Val | Missense | 11/26 | - |
11-48285770-C-G | OR4X1 | c.358C>G | p.Arg120Gly | Missense | 1/1 | - |
14-105414343-C-G | AHNAK2 | c.7445G>C | p.Arg2482Thr | Missense | 7/7 | - |
11-48285770-C-T | OR4X1 | c.358C>T | p.Arg120Cys | Missense | 1/1 | - |
7-144015437-C-T | OR2A1 | c.220C>T | p.Arg74Cys | Missense | 1/1 | - |
12-11546192-G-A | PRB2 | c.820C>T | p.Pro274Ser | Missense | 3/4 | - |
3-195509402-T-C | MUC4 | c.9049A>G | p.Ile3017Val | Missense | 2/25 | - |
3-195509402-T-A | MUC4 | c.9049A>T | p.Ile3017Leu | Missense | 2/25 | - |
4-2044128-C-T | C4orf48 | c.50C>T | p.Pro17Leu | Missense | 2/4 | - |
7-100684593-G-A | MUC17 | c.9896G>A | p.Ser3299Asn | Missense | 3/13 | - |
2-185803445-G-A | ZNF804A | c.3322G>A | p.Ala1108Thr | Missense | 4/4 | - |
2-48026308-C-G | MSH6 | c.1186C>G | p.Leu396Val | Missense | 4/10 | - |
2-107049447-C-T | RGPD3 | c.2413G>A | p.Ala805Thr | Missense | 17/23 | - |
4-70156313-T-A | UGT2B28 | c.1094T>A | p.Leu365His | Missense | 5/6 | - |
4-70156313-T-G | UGT2B28 | c.1094T>G | p.Leu365Arg | Missense | 5/6 | - |
20-2082732-C-G | STK35 | c.205C>G | p.Arg69Gly | Missense | 1/4 | - |
20-2082732-C-T | STK35 | c.205C>T | p.Arg69Trp | Missense | 1/4 | - |
21-34923375-G-C | SON | c.1838G>C | p.Gly613Ala | Missense | 3/12 | - |
1-248458717-C-G | OR2T12 | c.164G>C | p.Arg55Thr | Missense | 1/1 | - |
8-143996539-T-C | CYP11B2 | c.518A>G | p.Lys173Arg | Missense | 3/9 | - |
6-43172498-G-T | CUL9 | c.4352G>T | p.Ser1451Ile | Missense | 22/41 | - |
1-248458717-C-T | OR2T12 | c.164G>A | p.Arg55Lys | Missense | 1/1 | - |
1-248458717-C-A | OR2T12 | c.164G>T | p.Arg55Met | Missense | 1/1 | - |
17-7948239-C-T | ALOX15B | c.769C>T | p.Leu257Phe | Missense | 6/13 | - |
1-42880442-G-A | RIMKLA | c.973G>A | p.Glu325Lys | Missense | 5/5 | - |
11-123676777-C-T | OR6M1 | c.281G>A | p.Gly94Asp | Missense | 1/1 | - |
22-24579049-G-A | SUSD2 | c.101G>A | p.Arg34His | Missense | 2/15 | - |
22-24579049-G-C | SUSD2 | c.101G>C | p.Arg34Pro | Missense | 2/15 | - |
14-105417396-C-G | AHNAK2 | c.4392G>C | p.Glu1464Asp | Missense | 7/7 | - |
2-118579599-A-G | DDX18 | c.913A>G | p.Ile305Val | Missense | 6/14 | - |
11-71507205-C-T | FAM86C1 | c.302C>T | p.Pro101Leu | Missense | 3/4 | - |
4-70079975-A-C | UGT2B11 | c.466T>G | p.Cys156Gly | Missense | 1/6 | - |
1-226076669-C-T | LEFTY1 | c.98G>A | p.Arg33Gln | Missense | 1/4 | - |
4-70079975-A-G | UGT2B11 | c.466T>C | p.Cys156Arg | Missense | 1/6 | - |
1-3679886-C-G | CCDC27 | c.1169C>G | p.Pro390Arg | Missense | 7/12 | - |
8-10467637-T-C | RP1L1 | c.3971A>G | p.Glu1324Gly | Missense | 4/4 | - |
3-107491892-G-T | BBX | c.1324G>T | p.Ala442Ser | Missense | 11/17 | - |
20-58455447-A-G | SYCP2 | c.2852T>C | p.Ile951Thr | Missense | 31/45 | - |
7-100677816-G-A | MUC17 | c.3119G>A | p.Gly1040Glu | Missense | 3/13 | - |
7-100677816-G-T | MUC17 | c.3119G>T | p.Gly1040Val | Missense | 3/13 | - |
X-153418514-G-A | OPN1LW | c.511G>A | p.Val171Met | Missense | 3/6 | - |
7-100677988-T-G | MUC17 | c.3291T>G | p.Ser1097Arg | Missense | 3/13 | - |
8-144997783-G-A | PLEC | c.6395C>T | p.Ala2132Val | Missense | 32/33 | - |
19-38190686-A-G | ZNF607 | c.346T>C | p.Cys116Arg | Missense | 5/5 | - |
1-240371554-A-C | FMN2 | c.3442A>C | p.Arg1148Arg | Synonymous | 5/18 | - |
1-240371554-A-G | FMN2 | c.3442A>G | p.Arg1148Gly | Missense | 5/18 | - |
X-49179711-A-G | GAGE12J | c.39A>G | p.Arg13Arg | Synonymous | 2/5 | - |
18-712568-G-C | ENOSF1 | c.20C>G | p.Ser7Cys | Missense | 1/16 | - |
12-110221524-C-T | TRPV4 | c.2518G>A | p.Glu840Lys | Missense | 16/16 | - |
5-79950781-A-G | DHFR | c.1-473T>C | - | 5-UTRSNV | 1/6 | - |
5-79950781-A-T | DHFR | c.1-473T>A | - | 5-UTRSNV | 1/6 | - |
14-105418504-G-T | AHNAK2 | c.3284C>A | p.Ala1095Asp | Missense | 7/7 | - |
17-15532147-G-A | TRIM16 | c.1477C>T | p.Arg493Trp | Missense | 9/9 | - |
2-43902757-C-G | C1GALT1C1L | c.705G>C | p.Glu235Asp | Missense | 1/1 | - |
17-39521248-A-C | KRT33B | c.880T>G | p.Tyr294Asp | Missense | 6/7 | - |
2-70528033-C-T | FAM136A | c.167G>A | p.Arg56His | Missense | 2/3 | - |
2-241621869-G-C | AQP12B | c.386C>G | p.Thr129Arg | Missense | 1/3 | - |
3-12183451-A-C | SYN2 | c.106A>C | p.Met36Leu | Missense | 1/14 | - |
5-52229745-T-G | ITGA1 | c.2883T>G | p.Ile961Met | Missense | 23/29 | - |
3-12183451-A-T | SYN2 | c.106A>T | p.Met36Leu | Missense | 1/14 | - |
17-39619186-G-C | KRT32 | c.1113C>G | p.Asp371Glu | Missense | 6/7 | - |
4-2195009-G-A | POLN | c.943C>T | p.Pro315Ser | Missense | 7/26 | - |
10-43319197-G-A | BMS1 | c.3421G>A | p.Val1141Ile | Missense | 21/23 | - |
5-140869229-G-T | PCDHGC3 | c.2431-5145G>T | - | IntronicSNV | - | 1/3 |
2-21232455-A-T | APOB | c.7285T>A | p.Ser2429Thr | Missense | 26/29 | - |
2-21232455-A-C | APOB | c.7285T>G | p.Ser2429Ala | Missense | 26/29 | - |
5-41909884-C-A | C5orf51 | c.244C>A | p.Leu82Ile | Missense | 3/6 | - |
16-3613436-C-T | NLRC3 | c.1502G>A | p.Arg501Gln | Missense | 5/21 | - |
22-35789508-C-T | HMOX1 | c.784C>T | p.Arg262Cys | Missense | 5/5 | - |
17-30348768-C-A | LRRC37B | c.603C>A | p.Ser201Arg | Missense | 1/12 | - |
5-141021096-G-A | FCHSD1 | c.2042C>T | p.Pro681Leu | Missense | 20/20 | - |
X-135956462-G-A | RBMX | c.1015C>T | p.Arg339Cys | Missense | 9/9 | - |
18-21424991-C-A | LAMA3 | c.3622C>A | p.Pro1208Thr | Missense | 30/75 | - |
7-99817585-G-T | PVRIG | c.52G>T | p.Glu18* | Nonsense | 2/6 | - |
11-51516191-G-A | OR4C46 | c.910G>A | p.Asp304Asn | Missense | 1/1 | - |
6-20490428-G-A | E2F3 | c.772G>A | p.Asp258Asn | Missense | 7/7 | - |
19-43244485-G-C | PSG3 | c.52C>G | p.Leu18Val | Missense | 1/7 | - |
1-89521841-G-A | GBP1 | c.1226C>T | p.Ala409Val | Missense | 8/11 | - |
1-89521841-G-C | GBP1 | c.1226C>G | p.Ala409Gly | Missense | 8/11 | - |
11-18159668-T-C | MRGPRX3 | c.919T>C | p.Trp307Arg | Missense | 3/3 | - |
1-152800124-G-A | LCE1A | c.176G>A | p.Gly59Asp | Missense | 1/1 | - |
1-152800124-G-T | LCE1A | c.176G>T | p.Gly59Val | Missense | 1/1 | - |
3-58134505-A-G | FLNB | c.6017A>G | p.Lys2006Arg | Missense | 36/46 | - |
6-136582401-A-T | BCLAF1 | c.2757+2T>A | - | IntronicSNV | - | 12/12 |
7-72413423-C-G | POM121 | c.2096C>G | p.Pro699Arg | Missense | 14/16 | - |
7-72413423-C-T | POM121 | c.2096C>T | p.Pro699Leu | Missense | 14/16 | - |
7-72413423-C-A | POM121 | c.2096C>A | p.Pro699Gln | Missense | 14/16 | - |
2-170068502-T-A | LRP2 | c.6256A>T | p.Thr2086Ser | Missense | 37/79 | - |
19-22156482-G-A | ZNF208 | c.1354C>T | p.Pro452Ser | Missense | 4/4 | - |
16-1291175-G-T | TPSAB1 | c.83G>T | p.Arg28Leu | Missense | 3/6 | - |
3-195513364-C-G | MUC4 | c.5087G>C | p.Arg1696Pro | Missense | 2/25 | - |
3-195513364-C-T | MUC4 | c.5087G>A | p.Arg1696His | Missense | 2/25 | - |
19-22156482-G-T | ZNF208 | c.1354C>A | p.Pro452Thr | Missense | 4/4 | - |
17-6703384-C-G | TEKT1 | c.1219G>C | p.Val407Leu | Missense | 8/8 | - |
12-88472996-C-T | CEP290 | c.5237G>A | p.Arg1746Gln | Missense | 39/54 | - |