| Variant Type | Calling Status |
|---|---|
| Mutations | Called |
| Copy number | Called |
| Fusions | Called |
| Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
|---|---|---|---|---|---|---|---|
| AARS2 | p.T89A | Missense | SNP | 0.441 | 2 | - | - |
| ABCC4 | p.G1174E | Missense | SNP | 0.552 | 2 | - | - |
| ABHD2 | p.D43A | Missense | SNP | 0.496 | 2 | - | - |
| ACBD5 | p.D281G | Missense | SNP | 0.532 | 2 | - | - |
| ACMSD | p.A154V | Missense | SNP | 0.396 | 2 | - | - |
| ACOT11 | p.N583S | Missense | SNP | 0.416 | 2 | - | - |
| ACSF2 | p.P157T | Missense | SNP | 0.464 | 2 | - | - |
| ADA | p.Q135R | Missense | SNP | 0.233 | 2 | - | - |
| ADAM22 | p.Q553* | Nonsense | SNP | 0.452 | 2 | - | - |
| ADAMTS16 | p.T702I | Missense | SNP | 0.507 | 2 | - | - |
| ADAMTS6 | p.A526S | Missense | SNP | 0.430 | 2 | - | - |
| ADCK1 | p.T382M | Missense | SNP | 0.542 | 2 | - | - |
| ADCY3 | p.R478H | Missense | SNP | 0.427 | 2 | - | - |
| ADGRB3 | p.G145W p.R1279I | Missense Missense | SNP SNP | 0.471 0.459 | 2 | - | - |
| ADRA1D | p.A69S | Missense | SNP | 0.660 | 2 | - | - |
| ADRB3 | p.R286W | Missense | SNP | 0.560 | 2 | - | - |
| AFAP1L2 | p.R498C | Missense | SNP | 0.426 | 2 | - | - |
| AFG3L2 | p.A411V | Missense | SNP | 0.460 | 2 | - | - |
| AGL | p.I1144M | Missense | SNP | 0.480 | 2 | - | - |
| AGPS | p.M321T | Missense | SNP | 0.411 | 2 | - | - |
| AHNAK | p.L1380P | Missense | SNP | 0.496 | 2 | - | - |
| AHR | p.F594S | Missense | SNP | 0.475 | 2 | - | - |
| AJUBA | p.E497D | Missense | SNP | 0.390 | 2 | - | - |
| AKAP11 | p.N843K p.A1570T | Missense Missense | SNP SNP | 0.407 0.450 | 2 | - | - |
| AL445238.1 | - | - | - | - | 3 | Gain | - |
| AL445989.1 | - | - | - | - | 3 | Gain | - |
| ALDH4A1 | p.R139C | Missense | SNP | 0.520 | 2 | - | - |
| ALG10 | p.P409H | Missense | SNP | 0.504 | 2 | - | - |
| ALK | p.E427G | Missense | SNP | 0.493 | 2 | - | - |
| ALOX5 | p.L317P | Missense | SNP | 0.433 | 2 | - | - |
| ALPK2 | p.A202V | Missense | SNP | 0.464 | 2 | - | - |
| ALX1 | p.R312* | Nonsense | SNP | 0.473 | 2 | - | - |
| ANK3 | p.R290* | Nonsense | SNP | 0.404 | 2 | - | - |
| ANKRD35 | p.L206P | Missense | SNP | 0.565 | 2 | - | - |
| ANKRD50 | p.I1332M | Missense | SNP | 0.494 | 2 | - | - |
| APCDD1L | p.Y220C | Missense | SNP | 0.455 | 2 | - | - |
| APOH | p.P53S | Missense | SNP | 0.543 | 2 | - | - |
| ARHGAP25 | p.D388Y | Missense | SNP | 0.520 | 2 | - | - |
| ARHGAP31 | p.G1235* | Nonsense | SNP | 0.468 | 2 | - | - |
| ARHGAP9 | p.R342G | Missense | SNP | 0.473 | 2 | - | - |
| ARHGDIG | p.X25_splice | Splice_Site | SNP | 0.586 | 2 | - | - |
| ARHGEF10 | p.G360R | Missense | SNP | 0.536 | 2 | - | - |
| ARHGEF12 | p.P1078S | Missense | SNP | 0.473 | 2 | - | - |
| ARHGEF5 | - | - | - | - | 1 | Loss | - |
| ARL10 | p.P5A | Missense | SNP | 0.447 | 2 | - | - |
| ARMCX3 | p.Y22C p.A183V | Missense Missense | SNP SNP | 0.343 0.309 | ND | ND | - |
| ARX | p.V64M | Missense | SNP | 0.354 | ND | ND | - |
| ASS1 | p.A258T | Missense | SNP | 0.468 | 2 | - | - |
| ASTE1 | p.A467S | Missense | SNP | 0.471 | 2 | - | - |
| ATAD2 | p.G561R | Missense | SNP | 0.497 | 2 | - | - |
| ATAD3A | p.R256H | Missense | SNP | 0.369 | 2 | - | - |
| ATG4B | p.G254C | Missense | SNP | 0.504 | 2 | - | - |
| ATG9B | p.R524H | Missense | SNP | 0.534 | 2 | - | - |
| ATP10A | p.G1328R | Missense | SNP | 0.477 | 2 | - | - |
| ATP10D | p.L839I | Missense | SNP | 0.480 | 2 | - | - |
| ATP11C | p.A468T | Missense | SNP | 0.288 | ND | ND | - |
| ATP8B3 | p.L222P p.P218L | Missense Missense | SNP SNP | 0.473 0.524 | 2 | - | - |
| AURKA | p.H366R | Missense | SNP | 0.466 | 2 | - | - |
| AVPR1B | p.V285G | Missense | SNP | 0.514 | 2 | - | - |
| AXIN2 | p.V539A p.T536M | Missense Missense | SNP SNP | 0.446 0.457 | 2 | - | - |
| B3GAT1 | p.L115I | Missense | SNP | 0.378 | 2 | - | - |
| B4GALT4 | p.R301W | Missense | SNP | 0.509 | 2 | - | - |
| BACE1 | p.R296H | Missense | SNP | 0.424 | 2 | - | - |
| BAHD1 | p.A702V | Missense | SNP | 0.508 | 2 | - | - |
| BANP | p.A153T | Missense | SNP | 0.219 | 2 | - | - |
| BCAR1 | p.R612W p.G267C | Missense Missense | SNP SNP | 0.543 0.570 | 2 | - | - |
| BCAS4 | p.P200T | Missense | SNP | 0.461 | 2 | - | - |
| BEND3 | p.D364G | Missense | SNP | 0.401 | 2 | - | - |
| BFSP2 | p.A407T | Missense | SNP | 0.519 | 2 | - | - |
| BICC1 | p.A3T | Missense | SNP | 0.466 | 2 | - | - |
| BIN3 | p.K113R | Missense | SNP | 0.536 | 2 | - | - |
| BLACE | p.I5S | Missense | SNP | 0.421 | ND | ND | - |
| BRAF | p.V600E | Missense | SNP | 0.452 | 2 | - | - |
| BRINP3 | p.K541T | Missense | SNP | 0.485 | 3 | Gain | - |
| C10orf71 | p.A11V | Missense | SNP | 0.437 | 2 | - | - |
| C14orf37 | p.A151V | Missense | SNP | 0.435 | ND | ND | - |
| C1GALT1C1 | p.H37P | Missense | SNP | 0.632 | ND | ND | - |
| C1orf204 | p.A149T | Missense | SNP | 0.505 | ND | ND | - |
| C1orf228 | p.A23T | Missense | SNP | 0.556 | ND | ND | - |
| C2CD4D | p.P184L | Missense | SNP | 0.485 | 2 | - | - |
| C2orf16 | p.L1534H | Missense | SNP | 0.516 | 2 | - | - |
| CA4 | p.A13V | Missense | SNP | 0.468 | 2 | - | - |
| CACNA1A | p.P2421V | Missense | DNP | 0.507 | 2 | - | - |
| CACNA1B | p.S761L | Missense | SNP | 0.496 | 2 | - | - |
| CALCRL | p.R355* | Nonsense | SNP | 0.462 | 2 | - | - |
| CAPNS1 | p.F164S | Missense | SNP | 0.532 | 2 | - | - |
| CARNS1 | p.S528N | Missense | SNP | 0.519 | 2 | - | - |
| CATIP | p.F354L | Missense | SNP | 0.533 | 2 | - | - |
| CBLN4 | p.T134P | Missense | SNP | 0.435 | 2 | - | - |
| CCDC102B | p.D477Y | Missense | SNP | 0.458 | 2 | - | - |
| CCDC13 | p.L415P | Missense | SNP | 0.471 | 2 | - | - |
| CCDC27 | p.R76W | Missense | SNP | 0.503 | 2 | - | - |
| CCDC65 | p.X394_splice | Splice_Site | SNP | 0.719 | 2 | - | - |
| CCDC94 | p.E170K | Missense | SNP | 0.447 | ND | ND | - |
| CCNJ | p.S267L | Missense | SNP | 0.504 | 2 | - | - |
| CCNYL1 | p.N180D | Missense | SNP | 0.549 | 2 | - | - |
| CCSER1 | p.L531R | Missense | SNP | 0.438 | 2 | - | - |
| CD101 | p.D772A | Missense | SNP | 0.460 | 2 | - | - |
| CD22 | p.E203* | Nonsense | SNP | 0.443 | 2 | - | - |
| CDC42BPG | p.V304M p.V205A | Missense Missense | SNP SNP | 0.419 0.507 | 2 | - | - |
| CDH4 | p.W113C | Missense | SNP | 0.519 | 2 | - | - |
| CDH5 | p.R621Q | Missense | SNP | 0.600 | 2 | - | - |
| CDK4 | p.R210Q | Missense | SNP | 0.456 | 2 | - | - |
| CDK5 | p.R200W | Missense | SNP | 0.519 | 2 | - | - |
| CDK5R2 | p.G357R | Missense | SNP | 0.482 | 2 | - | - |
| CECR6 | p.G159S | Missense | SNP | 0.590 | ND | ND | - |
| CELF3 | p.X76_splice | Splice_Site | SNP | 0.498 | 2 | - | - |
| CELSR1 | p.R2406* p.R291H | Nonsense Missense | SNP SNP | 0.559 0.533 | 2 | - | - |
| CEMIP | p.G118D | Missense | SNP | 0.525 | 2 | - | - |
| CENPI | p.A29T | Missense | SNP | 0.373 | ND | ND | - |
| CENPO | p.V250I | Missense | SNP | 0.503 | 2 | - | - |
| CEP295 | p.L482R | Missense | SNP | 0.608 | 2 | - | - |
| CEP63 | p.W43R | Missense | SNP | 0.492 | 2 | - | - |
| CES2 | p.G88D | Missense | SNP | 0.404 | 2 | - | - |
| CFAP47 | p.D385G | Missense | SNP | 0.268 | ND | ND | - |
| CFAP65 | p.S48R | Missense | SNP | 0.531 | 2 | - | - |
| CFH | p.G486E | Missense | DNP | 0.370 | 2 | - | - |
| CFHR4 | p.D424N | Missense | SNP | 0.498 | 2 | - | - |
| CHCHD2 | p.A37V | Missense | SNP | 0.514 | 2 | - | - |
| CHCHD7 | p.S43L | Missense | SNP | 0.469 | 2 | - | - |
| CHRNA4 | p.L619M | Missense | SNP | 0.490 | 2 | - | - |
| CHST2 | p.D441N | Missense | SNP | 0.503 | 2 | - | - |
| CHST7 | p.G415S | Missense | SNP | 0.403 | ND | ND | - |
| CIC | p.R863C | Missense | SNP | 0.537 | 2 | - | - |
| CKMT1A | p.R309H | Missense | SNP | 0.443 | 2 | - | - |
| CLASP2 | p.R1236W | Missense | SNP | 0.497 | 2 | - | - |
| CLASRP | p.D81N | Missense | SNP | 0.487 | 2 | - | - |
| CLEC16A | p.T848A | Missense | SNP | 0.389 | 2 | - | - |
| CLHC1 | p.X272_splice | Splice_Site | SNP | 0.437 | 2 | - | - |
| CLIP2 | p.M653V | Missense | SNP | 0.470 | 2 | - | - |
| CLTA | p.R213W | Missense | SNP | 0.467 | 2 | - | - |
| CNN1 | p.D52G | Missense | SNP | 0.599 | 2 | - | - |
| CNTN6 | p.G664S | Missense | SNP | 0.444 | 2 | - | - |
| CNTNAP2 | - | - | - | - | 3 | Gain | - |
| COL15A1 | p.D639G | Missense | SNP | 0.479 | 2 | - | - |
| COL5A1 | p.G607R | Missense | SNP | 0.485 | 2 | - | - |
| COLQ | p.G231* | Nonsense | SNP | 0.484 | 2 | - | - |
| CP | p.P87S | Missense | SNP | 0.473 | 2 | - | - |
| CPSF4L | p.R73Q | Missense | SNP | 0.556 | 2 | - | - |
| CPXM1 | p.V356M | Missense | SNP | 0.425 | 2 | - | - |
| CRAT | p.K426E | Missense | SNP | 0.444 | 2 | - | - |
| CRB1 | p.K553T | Missense | SNP | 0.516 | 2 | - | - |
| CRIPAK | p.H442N | Missense | SNP | 0.487 | ND | ND | - |
| CRTAC1 | p.H556R | Missense | SNP | 0.488 | 2 | - | - |
| CS | p.K382R | Missense | SNP | 0.538 | 2 | - | - |
| CSMD1 | p.I1814F | Missense | SNP | 0.543 | 2 | - | - |
| CSNK2A1 | p.Y125C | Missense | SNP | 0.496 | 2 | - | - |
| CSTB | p.Y97* | Nonsense | SNP | 0.473 | 2 | - | - |
| CTAGE1 | p.R556S | Missense | SNP | 0.483 | 2 | - | - |
| CTAGE4 | - | - | - | - | 1 | Loss | - |
| CTAGE8 | - | - | - | - | 1 | Loss | - |
| CTC-260F20.3 | p.A106V | Missense | SNP | 0.590 | ND | ND | - |
| CTPS1 | p.G558D | Missense | SNP | 0.513 | 2 | - | - |
| CUBN | p.N2576D | Missense | SNP | 0.510 | 2 | - | - |
| CWC22 | p.E426K | Missense | SNP | 0.358 | 2 | - | - |
| CYP26C1 | p.A164V | Missense | SNP | 0.577 | 2 | - | - |
| CYP2E1 | - | - | - | - | 3 | Gain | - |
| DACT3 | p.P495H | Missense | SNP | 0.492 | 2 | - | - |
| DCC | p.P234T | Missense | SNP | 0.570 | 2 | - | - |
| DCHS2 | p.A309D | Missense | SNP | 0.484 | 2 | - | - |
| DCST2 | p.M314L | Missense | SNP | 0.484 | 2 | - | - |
| DDN | p.Q29* | Nonsense | SNP | 0.492 | 2 | - | - |
| DEPDC1B | p.Y156C | Missense | SNP | 0.434 | 2 | - | - |
| DGKA | p.P454S | Missense | SNP | 0.479 | 2 | - | - |
| DHH | p.G304S | Missense | SNP | 0.530 | 2 | - | - |
| DHX37 | p.R1097G | Missense | SNP | 0.476 | 2 | - | - |
| DISP1 | p.S957L | Missense | SNP | 0.496 | 2 | - | - |
| DMRTA2 | p.R105C | Missense | SNP | 0.442 | 2 | - | - |
| DNAH1 | p.H3607L | Missense | SNP | 0.487 | 2 | - | - |
| DNAH10 | p.Q3307H | Missense | SNP | 0.407 | 2 | - | - |
| DNAH11 | p.L1636F | Missense | SNP | 0.448 | 2 | - | - |
| DNAH3 | p.F2236V | Missense | SNP | 0.552 | 2 | - | - |
| DNAJC6 | p.R806* | Nonsense | SNP | 0.467 | 2 | - | - |
| DNM1 | p.L452I | Missense | SNP | 0.422 | 2 | - | - |
| DNMT1 | p.V1284A | Missense | SNP | 0.420 | 2 | - | - |
| DOC2B | p.A60T | Missense | SNP | 0.730 | 2 | - | - |
| DOCK3 | p.E901D p.H1605R | Missense Missense | SNP SNP | 0.680 0.455 | 2 | - | - |
| DOCK6 | - | - | - | - | 3 | Gain | - |
| DPCR1 | p.A1237T | Missense | SNP | 0.520 | ND | ND | - |
| DPM1 | p.P125S | Missense | SNP | 0.400 | 2 | - | - |
| DPT | p.S47G | Missense | SNP | 0.460 | 2 | - | - |
| DPY19L2 | p.R147H | Missense | SNP | 0.433 | 2 | - | - |
| DRD3 | p.P247L | Missense | SNP | 0.579 | 2 | - | - |
| DRD4 | p.A234V | Missense | SNP | 0.445 | 2 | - | - |
| DSE | p.K834E | Missense | SNP | 0.505 | 2 | - | - |
| DSPP | p.S293G | Missense | SNP | 0.481 | 2 | - | - |
| DSTYK | p.G30V | Missense | SNP | 0.493 | 2 | - | - |
| DTD1 | p.V133A | Missense | SNP | 0.452 | 2 | - | - |
| DUSP16 | p.L442I | Missense | SNP | 0.415 | 2 | - | - |
| ECT2 | p.X749_splice | Splice_Site | SNP | 0.522 | 2 | - | - |
| EDRF1 | p.R953* | Nonsense | SNP | 0.425 | 2 | - | - |
| EFNA1 | p.L197F | Missense | SNP | 0.509 | 2 | - | - |
| EGFL6 | p.A48V | Missense | SNP | 0.295 | ND | ND | - |
| EGR3 | p.R259H | Missense | SNP | 0.442 | 2 | - | - |
| EHBP1 | p.V29A | Missense | SNP | 0.400 | 2 | - | - |
| EIF3G | p.S217R | Missense | SNP | 0.549 | 2 | - | - |
| EIF4G1 | p.R901C | Missense | SNP | 0.473 | 2 | - | - |
| EOMES | p.R602S | Missense | SNP | 0.509 | 2 | - | - |
| EPB41 | p.T798S | Missense | SNP | 0.502 | 2 | - | - |
| EPB41L1 | p.A143E | Missense | SNP | 0.483 | 2 | - | - |
| EPHA5 | p.Q511H | Missense | SNP | 0.543 | 2 | - | - |
| EPHA7 | p.R811W | Missense | SNP | 0.470 | 2 | - | - |
| EPS8L1 | p.R290C | Missense | SNP | 0.550 | 2 | - | - |
| ETV5 | p.H179P | Missense | SNP | 0.170 | 2 | - | - |
| EVC | p.A756T | Missense | SNP | 0.543 | 2 | - | - |
| EYS | p.R164Q | Missense | SNP | 0.488 | 2 | - | - |
| F10 | p.A474T | Missense | SNP | 0.500 | 2 | - | - |
| FAM161A | p.E477K | Missense | SNP | 0.425 | 2 | - | - |
| FAM179B | p.R722W | Missense | SNP | 0.500 | ND | ND | - |
| FAM184A | p.P1109S | Missense | SNP | 0.458 | 2 | - | - |
| FAM193A | p.E838* | Nonsense | SNP | 0.421 | 2 | - | - |
| FAM199X | p.D45N | Missense | SNP | 0.388 | ND | ND | - |
| FAM213A | p.V212I | Missense | SNP | 0.527 | ND | ND | - |
| FAM9B | p.G25* | Nonsense | SNP | 0.365 | ND | ND | - |
| FAT4 | p.A4625T | Missense | SNP | 0.488 | 2 | - | - |
| FBLL1 | p.V84G p.A229V | Missense Missense | SNP SNP | 0.561 0.485 | 2 | - | - |
| FBN2 | p.A1032S | Missense | SNP | 0.447 | 2 | - | - |
| FBN3 | p.R2688* | Nonsense | SNP | 0.465 | 2 | - | - |
| FBXL19 | p.P191T | Missense | SNP | 0.432 | 2 | - | - |
| FBXL8 | p.L354M | Missense | SNP | 0.485 | 2 | - | - |
| FBXO40 | p.H565R | Missense | SNP | 0.526 | 2 | - | - |
| FBXW10 | p.P223T | Missense | SNP | 0.355 | 2 | - | - |
| FCHSD1 | p.S630I | Missense | SNP | 0.516 | 2 | - | - |
| FDPS | p.D317G | Missense | SNP | 0.486 | 2 | - | - |
| FEV | p.A165P | Missense | SNP | 0.600 | 2 | - | - |
| FHDC1 | p.H593R | Missense | SNP | 0.524 | 2 | - | - |
| FIBCD1 | p.F449C | Missense | SNP | 0.460 | 2 | - | - |
| FKBP8 | p.S130L | Missense | SNP | 0.460 | 2 | - | - |
| FLG2 | - | - | - | - | 3 | Gain | - |
| FLNB | p.T1076M | Missense | SNP | 0.515 | 2 | - | - |
| FLRT2 | p.S173N | Missense | SNP | 0.457 | 3 | Gain | - |
| FMNL2 | p.F14I | Missense | SNP | 0.484 | 2 | - | - |
| FOXC1 | p.F167I | Missense | SNP | 0.494 | 2 | - | - |
| FOXE3 | p.D110N | Missense | SNP | 0.523 | 2 | - | - |
| FOXG1 | - | - | - | - | 3 | Gain | - |
| FOXK1 | p.V676A | Missense | SNP | 0.514 | 2 | - | - |
| FRG2B | - | - | - | - | 3 | Gain | - |
| FRMPD3 | p.R1386H | Missense | SNP | 0.616 | ND | ND | - |
| FSIP2 | p.X343_splice | Splice_Site | SNP | 0.491 | 2 | - | - |
| FUT9 | p.M50T | Missense | SNP | 0.524 | 2 | - | - |
| FZD7 | p.Y179C | Missense | SNP | 0.484 | 2 | - | - |
| GABPB2 | p.D304V | Missense | SNP | 0.483 | 2 | - | - |
| GAL3ST4 | p.A368V | Missense | SNP | 0.505 | 2 | - | - |
| GALNT14 | p.V540I | Missense | SNP | 0.462 | 2 | - | - |
| GAR1 | p.G61D | Missense | SNP | 0.543 | 2 | - | - |
| GATAD2B | p.R310H | Missense | SNP | 0.482 | 2 | - | - |
| GCC1 | p.R558Q | Missense | SNP | 0.539 | 2 | - | - |
| GCGR | p.X91_splice | Splice_Site | SNP | 0.410 | 2 | - | - |
| GDF6 | p.R62W | Missense | SNP | 0.510 | 2 | - | - |
| GET4 | p.F203L | Missense | SNP | 0.424 | 2 | - | - |
| GFPT1 | p.P109T | Missense | SNP | 0.500 | 2 | - | - |
| GINS4 | p.K200M | Missense | SNP | 0.548 | 2 | - | - |
| GLRX3 | p.N134D | Missense | SNP | 0.494 | 2 | - | - |
| GLTSCR1 | p.N1324I | Missense | SNP | 0.450 | ND | ND | - |
| GPC5 | - | - | - | - | 3 | Gain | - |
| GPC6 | - | - | - | - | 3 | Gain | - |
| GPM6A | p.A223T | Missense | SNP | 0.424 | 2 | - | - |
| GPR37L1 | p.Q306K | Missense | SNP | 0.464 | 2 | - | - |
| GREB1L | p.A971V | Missense | SNP | 0.531 | 2 | - | - |
| GRIA3 | p.Q619* | Nonsense | SNP | 0.251 | ND | ND | - |
| GRIP1 | p.R905C | Missense | SNP | 0.500 | 2 | - | - |
| GRM1 | p.S1163R | Missense | SNP | 0.492 | 2 | - | - |
| GSE1 | p.R361C | Missense | SNP | 0.620 | 2 | - | - |
| GSG2 | p.H746R | Missense | SNP | 0.515 | ND | ND | - |
| GTF3C1 | p.R1514Q | Missense | SNP | 0.419 | 2 | - | - |
| GTSF1 | p.A55V | Missense | SNP | 0.501 | 2 | - | - |
| GUCY1A2 | p.E679K | Missense | SNP | 0.538 | 2 | - | - |
| HBQ1 | p.L49M | Missense | SNP | 0.493 | 2 | - | - |
| HCN1 | p.R590Q | Missense | SNP | 0.420 | 2 | - | - |
| HEATR4 | p.Y344* | Nonsense | SNP | 0.512 | 2 | - | - |
| HECTD4 | p.L3686P p.K1147N | Missense Missense | SNP SNP | 0.408 0.489 | 2 | - | - |
| HECW1 | p.A775S | Missense | SNP | 0.412 | 2 | - | - |
| HECW2 | p.R1119Q p.A422V | Missense Missense | SNP SNP | 0.513 0.424 | 2 | - | - |
| HIST2H2AA3 | - | - | - | - | 2 | - | RNA5-8SN2--HIST2H2AA3 |
| HMCN2 | p.P3867H | Missense | SNP | 0.493 | 2 | - | - |
| HR | p.S930P | Missense | SNP | 0.417 | 2 | - | - |
| HSH2D | p.A282T | Missense | SNP | 0.533 | 2 | - | - |
| HSPA1L | p.D595N | Missense | SNP | 0.480 | 2 | - | - |
| HUNK | p.D494N | Missense | SNP | 0.523 | 2 | - | - |
| IARS | p.F339S | Missense | SNP | 0.516 | 2 | - | - |
| IBTK | p.I526V | Missense | SNP | 0.424 | 2 | - | - |
| ICAM4 | p.R26C | Missense | SNP | 0.455 | 2 | - | - |
| IDI1 | p.T141M | Missense | SNP | 0.480 | 2 | - | - |
| IFIT1 | p.Q410H | Missense | SNP | 0.481 | 2 | - | - |
| IFT74 | p.F191L | Missense | SNP | 0.458 | 2 | - | - |
| IGF2R | p.Y2115C | Missense | SNP | 0.386 | 2 | - | - |
| IGSF9B | p.A804T | Missense | SNP | 0.542 | 2 | - | - |
| IL18RAP | p.T401M | Missense | SNP | 0.429 | 2 | - | - |
| IL2RG | p.Y189H | Missense | SNP | 0.331 | ND | ND | - |
| INHBA | p.K163E | Missense | SNP | 0.479 | 2 | - | - |
| IRAK2 | p.S172L | Missense | SNP | 0.524 | 2 | - | - |
| IRF9 | p.R13W | Missense | SNP | 0.489 | 2 | - | - |
| IRX1 | p.G121D | Missense | SNP | 0.553 | 2 | - | - |
| ITGA4 | p.G31S | Missense | SNP | 0.415 | 2 | - | - |
| ITGA9 | p.L645M | Missense | SNP | 0.392 | 2 | - | - |
| ITGAD | p.D529G | Missense | SNP | 0.502 | 2 | - | - |
| IZUMO4 | p.T221P | Missense | SNP | 0.347 | 2 | - | - |
| JMY | p.Y443H | Missense | SNP | 0.587 | 2 | - | - |
| KALRN | p.R1137C | Missense | SNP | 0.548 | 2 | - | - |
| KANK2 | - | - | - | - | 3 | Gain | - |
| KANSL1L | p.E474K | Missense | SNP | 0.566 | 2 | - | - |
| KAZN | p.T416M | Missense | SNP | 0.591 | 2 | - | - |
| KCNA4 | p.C586F | Missense | SNP | 0.448 | 2 | - | - |
| KCNG3 | p.A86V | Missense | SNP | 0.470 | 2 | - | - |
| KCNMA1 | p.D1107N | Missense | SNP | 0.515 | 2 | - | - |
| KCNS2 | p.V230M | Missense | SNP | 0.494 | 2 | - | - |
| KCTD8 | p.G160D | Missense | SNP | 0.534 | 2 | - | - |
| KDF1 | p.R146W | Missense | SNP | 0.529 | 2 | - | - |
| KIAA0319 | p.R791* | Nonsense | SNP | 0.502 | 2 | - | - |
| KIAA0895L | p.P164T | Missense | SNP | 0.438 | 2 | - | - |
| KIAA1217 | p.S930L | Missense | SNP | 0.478 | 2 | - | - |
| KIF13B | p.E944K | Missense | SNP | 0.487 | 2 | - | - |
| KIF3C | p.S216C | Missense | SNP | 0.457 | 2 | - | - |
| KIF5B | p.A461V | Missense | SNP | 0.497 | 2 | - | - |
| KIF7 | p.R691C | Missense | SNP | 0.466 | 2 | - | - |
| KLC3 | p.E50D | Missense | SNP | 0.424 | 2 | - | - |
| KLHL34 | p.S584L p.T260M | Missense Missense | SNP SNP | 0.319 0.342 | ND | ND | - |
| KLK14 | p.A60V | Missense | SNP | 0.538 | 2 | - | - |
| KMT2B | p.D1349E | Missense | SNP | 0.480 | 2 | - | - |
| KMT2D | p.Q1302R | Missense | SNP | 0.485 | 2 | - | - |
| KPNA5 | p.A103T | Missense | SNP | 0.474 | 2 | - | - |
| KREMEN2 | p.T374M | Missense | SNP | 0.500 | 2 | - | - |
| KRT12 | p.M129I | Missense | SNP | 0.549 | 2 | - | - |
| KRTAP19-1 | p.G61C | Missense | SNP | 0.490 | 2 | - | - |
| LAMB3 | p.C584* | Nonsense | SNP | 0.500 | 2 | - | - |
| LARS2 | p.E294K | Missense | SNP | 0.466 | 2 | - | - |
| LCE5A | p.S61I | Missense | SNP | 0.462 | 2 | - | - |
| LDLR | - | - | - | - | 3 | Gain | - |
| LDOC1 | p.P47L p.A18T | Missense Missense | SNP SNP | 0.337 0.321 | ND | ND | - |
| LHPP | p.E177V | Missense | SNP | 0.527 | 2 | - | - |
| LIN28A | p.R132Q | Missense | DNP | 0.408 | 2 | - | - |
| LOXHD1 | p.K82E | Missense | SNP | 0.455 | 2 | - | - |
| LOXL2 | p.R338C | Missense | SNP | 0.533 | 2 | - | - |
| LOXL4 | p.R427C | Missense | SNP | 0.468 | 2 | - | - |
| LRCH4 | p.V663I | Missense | SNP | 0.472 | 2 | - | - |
| LRP1B | p.D875N | Missense | SNP | 0.475 | 2 | - | - |
| LRP2 | p.D297Y | Missense | SNP | 0.523 | 2 | - | - |
| LRRC75B | p.L215P | Missense | SNP | 0.532 | 2 | - | - |
| LRRIQ3 | p.T128A | Missense | SNP | 0.511 | 2 | - | - |
| LRRK1 | p.V1320A | Missense | SNP | 0.487 | 2 | - | - |
| LRRTM4 | - | - | - | - | 3 | Gain | - |
| LY6G5B | p.T27M | Missense | SNP | 0.495 | 2 | - | - |
| LZIC | p.L138I | Missense | SNP | 0.531 | 2 | - | - |
| MAD1L1 | p.L113I | Missense | SNP | 0.442 | 2 | - | - |
| MADCAM1 | p.R188H | Missense | SNP | 0.412 | 2 | - | - |
| MAFA | p.E251D | Missense | SNP | 0.462 | 2 | - | - |
| MAGEB6P1 | p.A365S | Missense | SNP | 0.339 | ND | ND | - |
| MAGEC1 | p.D91N p.S713R | Missense Missense | SNP SNP | 0.326 0.391 | ND | ND | - |
| MAP10 | p.E397K | Missense | SNP | 0.442 | 2 | - | - |
| MAP3K1 | p.V569I | Missense | SNP | 0.467 | 2 | - | - |
| MAP3K12 | p.G229C | Missense | SNP | 0.588 | 2 | - | - |
| MAPKBP1 | p.X725_splice | Splice_Site | SNP | 0.434 | 2 | - | - |
| MAST2 | p.R1202P | Missense | SNP | 0.465 | 2 | - | - |
| MAST4 | p.T1769M | Missense | SNP | 0.511 | 2 | - | - |
| MBD1 | p.N554S | Missense | SNP | 0.533 | 2 | - | - |
| MCIDAS | p.A252V | Missense | SNP | 0.541 | 2 | - | - |
| MCOLN1 | p.R318C | Missense | SNP | 0.593 | 2 | - | - |
| MCRS1 | p.E183V | Missense | SNP | 0.453 | 2 | - | - |
| MED13 | p.X2098_splice | Splice_Site | SNP | 0.493 | 2 | - | - |
| MEGF8 | p.S1358P | Missense | SNP | 0.524 | 2 | - | - |
| MEI1 | p.A1074V | Missense | SNP | 0.507 | 2 | - | - |
| MELTF | p.A383V | Missense | SNP | 0.566 | 2 | - | - |
| METTL11B | p.V134I | Missense | SNP | 0.416 | 2 | - | - |
| METTL13 | p.S99G | Missense | SNP | 0.534 | 2 | - | - |
| METTL25 | p.R232S | Missense | SNP | 0.559 | 2 | - | - |
| MEX3B | p.P211S | Missense | SNP | 0.477 | 2 | - | - |
| MGAT5 | p.C145R | Missense | SNP | 0.551 | 2 | - | - |
| MLXIPL | p.E30Q | Missense | SNP | 0.437 | 2 | - | - |
| MMP28 | p.A206V | Missense | SNP | 0.511 | 2 | - | - |
| MMS22L | p.H1047Y | Missense | SNP | 0.536 | 2 | - | - |
| MOB4 | p.A102T | Missense | SNP | 0.500 | 2 | - | - |
| MORC4 | p.D88N | Missense | SNP | 0.282 | ND | ND | - |
| MORN3 | p.M151T | Missense | SNP | 0.521 | 2 | - | - |
| MPL | p.G343E | Missense | SNP | 0.446 | 2 | - | - |
| MPO | p.E282K | Missense | SNP | 0.540 | 2 | - | - |
| MPZL2 | p.H80R | Missense | SNP | 0.472 | 2 | - | - |
| MRM3 | p.A259T | Missense | SNP | 0.524 | 2 | - | - |
| MROH2A | p.Q997K | Missense | SNP | 0.460 | 1 | Loss | - |
| MTF2 | p.G486* | Nonsense | SNP | 0.442 | 2 | - | - |
| MUC5B | p.P1436L | Missense | SNP | 0.509 | 2 | - | - |
| MXRA5 | p.Q486R | Missense | SNP | 0.333 | ND | ND | - |
| MYO15B | p.A1123V | Missense | SNP | 0.506 | 2 | - | - |
| MYO1G | p.Q420L | Missense | SNP | 0.529 | 2 | - | - |
| MYOZ1 | p.A157V | Missense | SNP | 0.513 | 2 | - | - |
| MZT2A | p.Q155H | Missense | SNP | 0.496 | 2 | - | - |
| NALCN | p.R297H | Missense | SNP | 0.465 | 2 | - | - |
| NAP1L6 | p.E104V | Missense | SNP | 0.334 | ND | ND | - |
| NAT8 | p.P50A | Missense | SNP | 0.509 | 2 | - | - |
| NCBP2 | p.R91C | Missense | SNP | 0.537 | 2 | - | - |
| NCOR1 | p.A317S | Missense | SNP | 0.492 | 2 | - | - |
| NEB | p.R8481* | Nonsense | SNP | 0.497 | 2 | - | - |
| NEFM | p.R204H | Missense | SNP | 0.514 | 2 | - | - |
| NEIL2 | p.Q284* | Nonsense | SNP | 0.547 | 2 | - | - |
| NHS | p.R137W | Missense | SNP | 0.310 | ND | ND | - |
| NID1 | p.C414R | Missense | SNP | 0.471 | 2 | - | - |
| NINJ2 | p.A23T | Missense | SNP | 0.474 | 2 | - | - |
| NIPBL | p.R834* p.M2398T | Nonsense Missense | SNP SNP | 0.509 0.495 | 2 | - | - |
| NKIRAS2 | p.G45S | Missense | SNP | 0.473 | 2 | - | - |
| NKX2-3 | p.A294V | Missense | SNP | 0.639 | 2 | - | - |
| NKX2-6 | p.V137M | Missense | SNP | 0.549 | 2 | - | - |
| NLE1 | p.P41Q | Missense | SNP | 0.496 | 2 | - | - |
| NLGN3 | p.M457V | Missense | SNP | 0.279 | ND | ND | - |
| NLRC5 | p.L28P p.A728T p.D1782V | Missense Missense Missense | SNP SNP SNP | 0.552 0.479 0.568 | 2 | - | - |
| NLRP4 | p.Q533K | Missense | SNP | 0.492 | 2 | - | - |
| NOG | p.R182C | Missense | SNP | 0.533 | 2 | - | - |
| NOL4 | p.L585M | Missense | SNP | 0.512 | 2 | - | - |
| NOP56 | p.P506H | Missense | SNP | 0.449 | 2 | - | - |
| NOTCH4 | p.T1083A | Missense | SNP | 0.654 | 2 | - | - |
| NPAS4 | p.V167M | Missense | SNP | 0.486 | 2 | - | - |
| NR1H3 | p.R160L | Missense | SNP | 0.487 | 2 | - | - |
| NRXN1 | p.M1492V | Missense | SNP | 0.519 | 2 | - | - |
| NSUN2 | p.P504H | Missense | SNP | 0.455 | 2 | - | - |
| NSUN6 | p.G328E | Missense | SNP | 0.494 | 2 | - | - |
| NUDT11 | p.R40W | Missense | SNP | 0.327 | ND | ND | - |
| NUP210 | p.R1871H | Missense | SNP | 0.558 | 2 | - | - |
| OBSCN | p.V5179M p.R6883H p.G8883D | Missense Missense Missense | SNP SNP SNP | 0.512 0.523 0.497 | 2 | - | - |
| OR1M1 | p.L82R | Missense | SNP | 0.521 | 2 | - | - |
| OR2A1 | - | - | - | - | 1 | Loss | - |
| OR2A42 | - | - | - | - | 1 | Loss | - |
| OR2A7 | - | - | - | - | 1 | Loss | - |
| OR2B11 | p.L75I | Missense | SNP | 0.423 | 2 | - | - |
| OR51F1 | p.Y261H | Missense | SNP | 0.521 | 2 | - | - |
| OR52E8 | p.H111R | Missense | SNP | 0.514 | 2 | - | - |
| OR5L1 | p.D89V | Missense | SNP | 0.464 | 2 | - | - |
| OSGIN1 | p.R80L | Missense | SNP | 0.504 | 2 | - | - |
| OTUB1 | p.R36* | Nonsense | SNP | 0.444 | 2 | - | - |
| OTUD7A | p.R672Q | Missense | SNP | 0.453 | 2 | - | - |
| OVOS2 | p.Y1125H | Missense | SNP | 0.430 | ND | ND | - |
| P3H2 | p.S550T | Missense | SNP | 0.498 | 2 | - | - |
| PAGE1 | p.E133D | Missense | SNP | 0.276 | ND | ND | - |
| PANX2 | p.R427C | Missense | SNP | 0.521 | 2 | - | - |
| PAPD5 | p.A107T | Missense | SNP | 0.499 | ND | ND | - |
| PARPBP | p.R21H | Missense | SNP | 0.529 | 2 | - | - |
| PAX6 | p.L336I | Missense | SNP | 0.505 | 2 | - | - |
| PCDH10 | p.R970H | Missense | SNP | 0.500 | 2 | - | - |
| PCDH17 | - | - | - | - | 3 | Gain | - |
| PCDH7 | p.R197C | Missense | SNP | 0.527 | 2 | - | - |
| PCDHA10 | p.S679L | Missense | SNP | 0.522 | 2 | - | - |
| PCDHA7 | p.V740E | Missense | SNP | 0.539 | 2 | - | - |
| PCDHGA11 | p.A697V | Missense | SNP | 0.468 | 2 | - | - |
| PCDHGA2 | p.R32H | Missense | SNP | 0.471 | 2 | - | - |
| PCSK1 | p.R669Q | Missense | SNP | 0.518 | 2 | - | - |
| PDZD4 | p.L373M | Missense | SNP | 0.341 | ND | ND | - |
| PDZD8 | p.R772C | Missense | SNP | 0.470 | 2 | - | - |
| PDZRN4 | p.Q177P | Missense | SNP | 0.448 | 2 | - | - |
| PEG3 | p.D560V p.D142N | Missense Missense | SNP SNP | 0.493 0.486 | 2 | - | - |
| PELP1 | p.L416R | Missense | SNP | 0.453 | 2 | - | - |
| PHACTR2 | p.E68* | Nonsense | SNP | 0.514 | 2 | - | - |
| PHF2 | p.A989T | Missense | SNP | 0.122 | 2 | - | - |
| PHF3 | p.R142Q | Missense | SNP | 0.498 | 2 | - | - |
| PHF8 | p.A946T p.R676W | Missense Missense | SNP SNP | 0.381 0.380 | ND | ND | - |
| PHIP | p.V732A | Missense | SNP | 0.466 | 2 | - | - |
| PHKA2 | p.X1113_splice | Splice_Site | SNP | 0.333 | ND | ND | - |
| PIEZO1 | p.W1403* | Nonsense | SNP | 0.371 | 2 | - | - |
| PIGG | p.R465G | Missense | SNP | 0.512 | 2 | - | - |
| PIGZ | p.T542I | Missense | SNP | 0.461 | 2 | - | - |
| PITX1 | p.L104P | Missense | SNP | 0.479 | 2 | - | - |
| PJA1 | p.T50M | Missense | SNP | 0.307 | ND | ND | - |
| PLA2G4A | - | - | - | - | 3 | Gain | - |
| PLCL2 | p.L172P | Missense | SNP | 0.459 | 2 | - | - |
| PLOD1 | p.R430H | Missense | SNP | 0.515 | 2 | - | - |
| PLXNB3 | p.A188V | Missense | SNP | 0.222 | ND | ND | - |
| PML | p.C754Y | Missense | SNP | 0.459 | 2 | - | - |
| PMP22 | p.L62M | Missense | SNP | 0.603 | 2 | - | - |
| PNPLA7 | p.R60G | Missense | SNP | 0.588 | 2 | - | - |
| POC1A | p.V169A | Missense | SNP | 0.414 | 2 | - | - |
| POLD2 | p.S479I | Missense | SNP | 0.476 | 2 | - | - |
| POLE | p.A186T | Missense | SNP | 0.554 | 2 | - | - |
| POLR1B | p.R1080W | Missense | SNP | 0.508 | 2 | - | - |
| POLR2A | p.X919_splice | Splice_Site | SNP | 0.468 | 2 | - | - |
| POTEC | p.L57F | Missense | SNP | 0.549 | 2 | - | - |
| POTEE | p.T860S | Missense | SNP | 0.478 | ND | ND | - |
| POU5F1B | p.P14H | Missense | SNP | 0.405 | 2 | - | - |
| PPARGC1B | p.A397V | Missense | SNP | 0.503 | 2 | - | - |
| PPFIA3 | p.R539Q | Missense | SNP | 0.456 | 2 | - | - |
| PRDM10 | p.T1144I | Missense | SNP | 0.570 | 2 | - | - |
| PRDM13 | p.A369V | Missense | SNP | 0.650 | 2 | - | - |
| PRDM16 | p.A1063T | Missense | SNP | 0.503 | 2 | - | - |
| PREX2 | p.A1036V | Missense | SNP | 0.439 | 2 | - | - |
| PRKCH | p.A299V | Missense | SNP | 0.439 | 2 | - | - |
| PRKDC | p.V323A | Missense | SNP | 0.576 | 2 | - | - |
| PRPF8 | p.X1874_splice p.E534* | Splice_Site Nonsense | SNP SNP | 0.513 0.505 | 2 | - | - |
| PRRC2B | p.R262* | Nonsense | SNP | 0.485 | 2 | - | - |
| PSMA3 | p.D252G | Missense | SNP | 0.483 | 2 | - | - |
| PTCHD4 | p.R744Q | Missense | SNP | 0.506 | 2 | - | - |
| PTEN | p.G251V | Missense | SNP | 0.482 | 2 | - | - |
| PTH2 | p.P38R | Missense | SNP | 0.513 | 2 | - | - |
| PTPRO | p.V233I | Missense | SNP | 0.450 | 2 | - | - |
| PTPRU | p.P698H | Missense | SNP | 0.534 | 2 | - | - |
| PTTG1IP | p.E133G | Missense | SNP | 0.481 | 2 | - | - |
| PZP | p.N1044K | Missense | SNP | 0.404 | 2 | - | - |
| RAP1GAP | p.A540T | Missense | SNP | 0.533 | 2 | - | - |
| RBFOX3 | p.I309V | Missense | SNP | 0.478 | 2 | - | - |
| RBM5 | p.G447D | Missense | SNP | 0.474 | 2 | - | - |
| RELA | p.Y349C | Missense | SNP | 0.476 | 2 | - | - |
| RELN | p.K329* | Nonsense | SNP | 0.470 | 2 | - | - |
| RFX7 | p.Q820R | Missense | SNP | 0.517 | 2 | - | - |
| RGPD1 | - | - | - | - | 0 | Del | - |
| RGPD2 | - | - | - | - | 0 | Del | - |
| RGS1 | - | - | - | - | 3 | Gain | - |
| RGS13 | - | - | - | - | 3 | Gain | - |
| RGS18 | - | - | - | - | 3 | Gain | - |
| RGS2 | - | - | - | - | 3 | Gain | - |
| RGS21 | - | - | - | - | 3 | Gain | - |
| RHO | p.Y10C | Missense | SNP | 0.476 | 2 | - | - |
| RIMBP2 | p.Y212S | Missense | SNP | 0.502 | 2 | - | - |
| RIOK1 | p.G88* | Nonsense | SNP | 0.508 | 2 | - | - |
| RIOK2 | p.E280K | Missense | SNP | 0.511 | 2 | - | - |
| RNA5-8SN2 | - | - | - | - | ND | ND | RNA5-8SN2--HIST2H2AA3 |
| RNF123 | p.A477V | Missense | SNP | 0.481 | 2 | - | - |
| RNF17 | p.H686R | Missense | SNP | 0.492 | 2 | - | - |
| RNF175 | p.V114I | Missense | SNP | 0.609 | 2 | - | - |
| RNF181 | p.P93L | Missense | SNP | 0.481 | 2 | - | - |
| RPAP2 | p.R504L | Missense | SNP | 0.454 | 2 | - | - |
| RPN2 | p.E351K | Missense | SNP | 0.491 | 2 | - | - |
| RSF1 | p.R970C | Missense | SNP | 0.476 | 2 | - | - |
| RTFDC1 | p.V211M | Missense | SNP | 0.558 | ND | ND | - |
| RWDD3 | p.G253V | Missense | SNP | 0.505 | 2 | - | - |
| RYR2 | p.T4072M | Missense | SNP | 0.447 | 2 | - | - |
| RYR3 | p.R4043H | Missense | SNP | 0.407 | 2 | - | - |
| S1PR5 | p.R111W | Missense | SNP | 0.553 | 2 | - | - |
| SAFB | p.R718W | Missense | SNP | 0.358 | 2 | - | - |
| SAMD14 | p.L368M | Missense | SNP | 0.181 | 2 | - | - |
| SAMD7 | p.N163K | Missense | SNP | 0.504 | 2 | - | - |
| SAP130 | p.C986L | Missense | DNP | 0.471 | 2 | - | - |
| SAV1 | p.R242* | Nonsense | SNP | 0.533 | 2 | - | - |
| SBK1 | p.T248A | Missense | SNP | 0.381 | 2 | - | - |
| SBK2 | p.R327H | Missense | SNP | 0.545 | 2 | - | - |
| SCAPER | p.R590* | Nonsense | SNP | 0.447 | 2 | - | - |
| SCARA5 | p.A304T | Missense | SNP | 0.420 | 2 | - | - |
| SCART1 | - | - | - | - | 3 | Gain | - |
| SCN7A | p.S530M | Missense | DNP | 0.254 | 2 | - | - |
| SCUBE3 | p.L477R | Missense | SNP | 0.492 | 2 | - | - |
| SEMA6A | p.Y472C | Missense | SNP | 0.459 | 2 | - | - |
| SEMA7A | p.R261H | Missense | SNP | 0.472 | 2 | - | - |
| SENP7 | p.K582N | Missense | SNP | 0.575 | 2 | - | - |
| SH2D4A | p.R247C | Missense | SNP | 0.480 | 2 | - | - |
| SH3GL1 | p.A125V | Missense | SNP | 0.527 | 2 | - | - |
| SH3TC2 | p.R641H | Missense | SNP | 0.514 | 2 | - | - |
| SIM1 | p.X248_splice | Splice_Site | SNP | 0.472 | 2 | - | - |
| SIMC1 | p.R458H | Missense | SNP | 0.444 | 2 | - | - |
| SIPA1L2 | p.E1180K | Missense | SNP | 0.480 | 2 | - | - |
| SIRT1 | p.R384* | Nonsense | SNP | 0.562 | 2 | - | - |
| SIRT2 | p.R381G | Missense | SNP | 0.434 | 2 | - | - |
| SLC22A11 | p.S332L | Missense | SNP | 0.429 | 2 | - | - |
| SLC22A18 | p.R89W | Missense | SNP | 0.566 | 2 | - | - |
| SLC26A4 | p.L117F | Missense | SNP | 0.506 | 2 | - | - |
| SLC27A6 | p.Q544* | Nonsense | SNP | 0.565 | 2 | - | - |
| SLC2A8 | p.R215C | Missense | SNP | 0.417 | 2 | - | - |
| SLC34A2 | p.C622R | Missense | SNP | 0.500 | 2 | - | - |
| SLC35A5 | p.A375T | Missense | SNP | 0.470 | 2 | - | - |
| SLC38A3 | p.L178P | Missense | SNP | 0.427 | 2 | - | - |
| SLC3A1 | p.G376S | Missense | SNP | 0.529 | 2 | - | - |
| SLC4A10 | p.R63* | Nonsense | SNP | 0.481 | 2 | - | - |
| SLC5A11 | p.A383V | Missense | SNP | 0.508 | 2 | - | - |
| SLC5A5 | p.F247L | Missense | SNP | 0.467 | 2 | - | - |
| SLC6A5 | p.S168Y | Missense | SNP | 0.471 | 2 | - | - |
| SLC7A4 | p.N593K p.G187* p.R135H | Missense Nonsense Missense | SNP SNP SNP | 0.495 0.528 0.509 | 2 | - | - |
| SLC7A8 | p.W182* | Nonsense | SNP | 0.405 | 2 | - | - |
| SLC8A3 | p.K601R | Missense | SNP | 0.545 | 2 | - | - |
| SLITRK1 | p.L184I | Missense | SNP | 0.450 | 3 | Gain | - |
| SLITRK5 | p.D161N | Missense | SNP | 0.490 | 3 | Gain | - |
| SLITRK6 | - | - | - | - | 3 | Gain | - |
| SMAD3 | p.H85R | Missense | SNP | 0.489 | 2 | - | - |
| SMARCA4 | - | - | - | - | 3 | Gain | - |
| SMC3 | p.R186W | Missense | SNP | 0.488 | 2 | - | - |
| SMCO2 | p.P331S | Missense | SNP | 0.375 | 2 | - | - |
| SNTB1 | p.R241W | Missense | SNP | 0.474 | 2 | - | - |
| SNX13 | p.Q160H | Missense | SNP | 0.450 | 2 | - | - |
| SOCS5 | p.R263M | Missense | SNP | 0.369 | 2 | - | - |
| SON | p.V1558I | Missense | SNP | 0.396 | 2 | - | - |
| SOX3 | p.I26M | Missense | SNP | 0.367 | ND | ND | - |
| SP140 | p.G549W | Missense | SNP | 0.479 | 2 | - | - |
| SPC24 | - | - | - | - | 3 | Gain | - |
| SPG11 | p.S464P | Missense | SNP | 0.516 | 2 | - | - |
| SPRN | - | - | - | - | 3 | Gain | - |
| SPTBN4 | p.A1686V | Missense | SNP | 0.517 | 2 | - | - |
| SRCAP | p.Q3205R | Missense | SNP | 0.311 | 2 | - | - |
| SRPK3 | p.E501A | Missense | SNP | 0.292 | ND | ND | - |
| SRRM4 | p.R209W | Missense | SNP | 0.442 | 2 | - | - |
| SS18 | p.I16N | Missense | SNP | 0.432 | 2 | - | - |
| SSH2 | p.A1410T | Missense | SNP | 0.507 | 2 | - | - |
| STARD8 | p.G1050S | Missense | SNP | 0.325 | ND | ND | - |
| STAT4 | p.I105V | Missense | SNP | 0.526 | 2 | - | - |
| STK10 | p.R817C | Missense | SNP | 0.410 | 2 | - | - |
| STRN4 | p.D519Y p.D419N | Missense Missense | SNP SNP | 0.473 0.476 | 2 | - | - |
| SURF6 | p.E286K | Missense | SNP | 0.489 | 2 | - | - |
| SYCE1 | - | - | - | - | 3 | Gain | - |
| TAGAP | p.R412H | Missense | SNP | 0.476 | 2 | - | - |
| TBC1D1 | p.Q238R | Missense | SNP | 0.429 | 2 | - | - |
| TBC1D22B | p.A487V | Missense | SNP | 0.562 | 2 | - | - |
| TBR1 | p.S164F | Missense | SNP | 0.522 | 2 | - | - |
| TBX4 | p.V55A | Missense | SNP | 0.565 | 2 | - | - |
| TBXA2R | p.R53W | Missense | SNP | 0.544 | 2 | - | - |
| TCF25 | p.W675G | Missense | SNP | 0.393 | 2 | - | - |
| TDO2 | p.E24K | Missense | SNP | 0.486 | 2 | - | - |
| TEX13C | p.M421I | Missense | SNP | 0.342 | ND | ND | - |
| TFAP2B | p.S45L | Missense | SNP | 0.479 | 2 | - | - |
| TFEB | p.R329C | Missense | SNP | 0.472 | 2 | - | - |
| TGFBR1 | p.X467_splice | Splice_Site | SNP | 0.546 | 2 | - | - |
| TJP2 | p.E329K | Missense | SNP | 0.519 | 2 | - | - |
| TLE4 | p.S629I | Missense | SNP | 0.417 | 2 | - | - |
| TMEM101 | p.S20L | Missense | SNP | 0.485 | 2 | - | - |
| TMEM131 | p.A449V | Missense | SNP | 0.490 | 2 | - | - |
| TMEM143 | p.L249P | Missense | SNP | 0.444 | 2 | - | - |
| TMEM184A | p.L50I | Missense | SNP | 0.550 | 2 | - | - |
| TMEM255B | p.S25L | Missense | SNP | 0.452 | 2 | - | - |
| TMIGD2 | p.L156P | Missense | SNP | 0.405 | 2 | - | - |
| TMX3 | p.K194N | Missense | SNP | 0.485 | 2 | - | - |
| TNFAIP6 | p.A42T | Missense | SNP | 0.422 | 2 | - | - |
| TNKS | p.R1161W | Missense | SNP | 0.490 | 2 | - | - |
| TNPO2 | p.M740I p.V451I | Missense Missense | SNP SNP | 0.513 0.479 | 2 | - | - |
| TNRC18 | p.R451C | Missense | SNP | 0.538 | 2 | - | - |
| TNRC6B | p.Q1307E | Missense | SNP | 0.557 | 2 | - | - |
| TNS2 | p.R37K | Missense | SNP | 0.481 | 2 | - | - |
| TNS3 | p.G934C | Missense | SNP | 0.502 | 2 | - | - |
| TRAF7 | p.R71W | Missense | SNP | 0.507 | 2 | - | - |
| TRAV8-7 | p.E81D | Missense | SNP | 0.380 | ND | ND | - |
| TRIM10 | p.V383M | Missense | SNP | 0.495 | 2 | - | - |
| TRIM50 | p.D431N | Missense | SNP | 0.531 | 2 | - | - |
| TRPC5 | p.R512C | Missense | SNP | 0.270 | ND | ND | - |
| TRPM3 | p.T1290M | Missense | SNP | 0.575 | 2 | - | - |
| TRPM5 | p.L877P | Missense | SNP | 0.423 | 2 | - | - |
| TRPV4 | p.E444D | Missense | SNP | 0.465 | 2 | - | - |
| TTC27 | p.L376R | Missense | SNP | 0.519 | 2 | - | - |
| TTC28 | p.V1585M | Missense | SNP | 0.493 | 2 | - | - |
| TTC6 | p.R64C | Missense | SNP | 0.514 | 2 | - | - |
| TTLL10 | p.M239V | Missense | SNP | 0.542 | 2 | - | - |
| TTN | p.G30849V p.R1981K | Missense Missense | SNP SNP | 0.487 0.466 | 2 | - | - |
| TUBA3C | p.A385T | Missense | SNP | 0.491 | 2 | - | - |
| TUBA3D | p.G17S | Missense | SNP | 0.526 | 2 | - | - |
| TUBB4A | p.T386M p.L130I | Missense Missense | SNP SNP | 0.466 0.569 | 2 | - | - |
| TYRP1 | p.G10C | Missense | SNP | 0.439 | 2 | - | - |
| U2AF1L4 | p.R174M | Missense | SNP | 0.457 | 2 | - | - |
| UEVLD | p.X165_splice | Splice_Site | SNP | 0.429 | 2 | - | - |
| UGT1A1 | - | - | - | - | 1 | Loss | - |
| UGT1A10 | - | - | - | - | 1 | Loss | - |
| UGT1A3 | - | - | - | - | 1 | Loss | - |
| UGT1A4 | - | - | - | - | 1 | Loss | - |
| UGT1A5 | - | - | - | - | 1 | Loss | - |
| UGT1A6 | - | - | - | - | 1 | Loss | - |
| UGT1A7 | - | - | - | - | 1 | Loss | - |
| UGT1A8 | p.S141C | Missense | SNP | 0.597 | 1 | Loss | - |
| UGT1A9 | - | - | - | - | 1 | Loss | - |
| UGT2B4 | p.G341V | Missense | SNP | 0.292 | 2 | - | - |
| UNC13C | p.Q1420R | Missense | SNP | 0.556 | 2 | - | - |
| URB2 | p.A1028T | Missense | SNP | 0.464 | 2 | - | - |
| USP19 | p.V498A | Missense | SNP | 0.448 | 2 | - | - |
| USP27X | p.G186R | Missense | SNP | 0.669 | ND | ND | - |
| USP32 | p.T734A | Missense | SNP | 0.484 | 2 | - | - |
| USP9X | p.A1875V | Missense | SNP | 0.370 | ND | ND | - |
| VCAM1 | p.T79M | Missense | SNP | 0.478 | 2 | - | - |
| VCPIP1 | p.V221L | Missense | SNP | 0.510 | 2 | - | - |
| VPS13D | p.R3316H | Missense | SNP | 0.421 | 2 | - | - |
| VSIG10 | p.S87F | Missense | SNP | 0.490 | 2 | - | - |
| VSTM2L | p.G23S | Missense | SNP | 0.528 | 2 | - | - |
| VWA2 | p.G412D | Missense | SNP | 0.482 | 2 | - | - |
| WAS | p.G465* | Nonsense | SNP | 0.275 | ND | ND | - |
| WDFY4 | p.R94S | Missense | SNP | 0.523 | 2 | - | - |
| WDR45 | p.R233H | Missense | SNP | 0.414 | ND | ND | - |
| WDR49 | p.R647H | Missense | SNP | 0.404 | 2 | - | - |
| WDR7 | p.T1180M | Missense | SNP | 0.557 | 2 | - | - |
| WNK3 | p.K1437Q | Missense | SNP | 0.320 | ND | ND | - |
| WNT5A | p.V147M | Missense | SNP | 0.535 | 2 | - | - |
| XPNPEP2 | p.E639K | Missense | SNP | 0.261 | ND | ND | - |
| ZBTB20 | p.E728K | Missense | SNP | 0.433 | 2 | - | - |
| ZBTB33 | . | Splice_Site | SNP | 0.303 | ND | ND | - |
| ZDHHC20 | p.F245V | Missense | SNP | 0.562 | 2 | - | - |
| ZFHX4 | p.E2641K p.V2648A | Missense Missense | SNP SNP | 0.487 0.475 | 2 | - | - |
| ZMYND8 | p.C122Y | Missense | SNP | 0.577 | 2 | - | - |
| ZNF185 | p.A116T | Missense | SNP | 0.312 | ND | ND | - |
| ZNF467 | p.A447V | Missense | SNP | 0.419 | 2 | - | - |
| ZNF469 | p.N617S p.T2559I | Missense Missense | SNP SNP | 0.456 0.528 | 2 | - | - |
| ZNF518A | p.E95G | Missense | SNP | 0.616 | 2 | - | - |
| ZNF585B | p.G714E | Missense | SNP | 0.544 | 2 | - | - |
| ZNF665 | p.A69V | Missense | SNP | 0.494 | 2 | - | - |
| ZNF711 | p.Q127H | Missense | SNP | 0.673 | ND | ND | - |
| ZNF746 | p.T131M | Missense | SNP | 0.507 | 2 | - | - |
| ZNF804A | p.R770Q | Missense | SNP | 0.523 | 2 | - | - |
| ZNRF3 | p.G96D | Missense | SNP | 0.533 | 2 | - | - |
| ZSCAN12 | p.T79I | Missense | SNP | 0.539 | 2 | - | - |