| Variant Type | Calling Status |
|---|---|
| Mutations | Called |
| Copy number | Called |
| Fusions | No Data |
| Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
|---|---|---|---|---|---|---|---|
| A3GALT2 | p.A286V | Missense | SNP | 0.465 | 2 | - | ND |
| ABCA3 | - | - | - | - | 1 | Loss | ND |
| ABCA4 | p.A222E | Missense | SNP | 0.496 | 2 | - | ND |
| ABCA6 | p.F139S | Missense | SNP | 0.567 | 2 | - | ND |
| ABCA9 | p.A679T | Missense | SNP | 0.475 | 2 | - | ND |
| ABCC4 | - | - | - | - | 3 | Gain | ND |
| ABCG5 | p.V232A | Missense | SNP | 0.503 | 2 | - | ND |
| ABHD12 | - | - | - | - | 3 | Gain | ND |
| ABHD13 | - | - | - | - | 3 | Gain | ND |
| ABI3 | p.A81V | Missense | SNP | 0.627 | 2 | - | ND |
| ABI3BP | p.P915L | Missense | SNP | 0.503 | 2 | - | ND |
| ABTB1 | p.E378D | Missense | SNP | 0.453 | 2 | - | ND |
| ABTB2 | p.A171T | Missense | SNP | 0.522 | 2 | - | ND |
| AC001226.2 | - | - | - | - | 3 | Gain | ND |
| AC004076.9 | p.P100H | Missense | SNP | 0.534 | ND | ND | ND |
| AC004754.1 | - | - | - | - | 1 | Loss | ND |
| AC018554.3 | - | - | - | - | 3 | Gain | ND |
| AC025283.2 | - | - | - | - | 1 | Loss | ND |
| AC025283.3 | - | - | - | - | 1 | Loss | ND |
| AC074143.1 | - | - | - | - | 5 | Amp | ND |
| AC093525.1 | - | - | - | - | 1 | Loss | ND |
| AC093525.2 | - | - | - | - | 1 | Loss | ND |
| ACACA | p.S975N p.T706A | Missense Missense | SNP SNP | 0.448 0.523 | 2 | - | ND |
| ACE | p.E923G | Missense | SNP | 0.500 | 2 | - | ND |
| ACIN1 | p.R1140W p.S20N | Missense Missense | SNP SNP | 0.628 0.486 | 2 | - | ND |
| ACOD1 | - | - | - | - | 3 | Gain | ND |
| ACOT4 | p.A146T | Missense | SNP | 0.345 | 2 | - | ND |
| ACRBP | p.G314C | Missense | SNP | 0.543 | 2 | - | ND |
| ACSS1 | - | - | - | - | 3 | Gain | ND |
| ACSS2 | - | - | - | - | 1 | Loss | ND |
| ACTL10 | - | - | - | - | 1 | Loss | ND |
| ACTN3 | p.R384H p.K920N | Missense Missense | SNP SNP | 0.545 0.475 | 2 | - | ND |
| ADAL | p.D13Y | Missense | SNP | 0.475 | 2 | - | ND |
| ADAM18 | - | - | - | - | 1 | Loss | ND |
| ADAM2 | - | - | - | - | 1 | Loss | ND |
| ADAM33 | - | - | - | - | 3 | Gain | ND |
| ADAMTS10 | p.Q780R | Missense | SNP | 0.510 | 2 | - | ND |
| ADAMTS12 | p.R556K | Missense | SNP | 0.393 | 2 | - | ND |
| ADAMTS2 | p.S720N | Missense | SNP | 0.498 | 2 | - | ND |
| ADAMTS5 | p.R68H | Missense | SNP | 0.498 | 2 | - | ND |
| ADCY8 | p.V1100G p.R49C | Missense Missense | SNP SNP | 0.447 0.664 | 2 | - | ND |
| ADCY9 | p.V985I | Missense | SNP | 0.458 | 2 | - | ND |
| ADCYAP1 | p.A125T | Missense | SNP | 1.000 | 2 | - | ND |
| ADGRB3 | p.F166L p.X454_splice | Missense Splice_Site | SNP SNP | 0.438 0.496 | 2 | - | ND |
| ADGRD2 | p.R76H | Missense | SNP | 0.487 | 2 | - | ND |
| ADGRL2 | p.Q165L | Missense | SNP | 0.450 | 2 | - | ND |
| ADIPOR2 | p.L115F | Missense | SNP | 0.450 | 2 | - | ND |
| ADPRHL1 | - | - | - | - | 3 | Gain | ND |
| ADRA1D | - | - | - | - | 3 | Gain | ND |
| AFTPH | p.P747S | Missense | SNP | 0.466 | 2 | - | ND |
| AGFG2 | p.G180S | Missense | SNP | 0.583 | 2 | - | ND |
| AGO2 | p.A184T | Missense | SNP | 0.478 | 2 | - | ND |
| AHCY | - | - | - | - | 1 | Loss | ND |
| AJAP1 | p.S342R | Missense | SNP | 0.496 | 2 | - | ND |
| AK5 | p.E466* | Nonsense | SNP | 0.426 | 2 | - | ND |
| AKAP10 | p.A412E | Missense | SNP | 0.488 | 2 | - | ND |
| AKT3 | p.G160W | Missense | SNP | 0.429 | 2 | - | ND |
| AL031708.1 | - | - | - | - | 1 | Loss | ND |
| AL035460.1 | - | - | - | - | 3 | Gain | ND |
| AL049634.2 | - | - | - | - | 3 | Gain | ND |
| AL049650.1 | - | - | - | - | 3 | Gain | ND |
| AL109827.1 | - | - | - | - | 1 | Loss | ND |
| AL121722.1 | - | - | - | - | 3 | Gain | ND |
| AL121753.1 | - | - | - | - | 1 | Loss | ND |
| AL121758.1 | - | - | - | - | 3 | Gain | ND |
| AL121900.2 | - | - | - | - | 3 | Gain | ND |
| AL136531.2 | - | - | - | - | 3 | Gain | ND |
| AL160272.2 | - | - | - | - | 1 | Loss | ND |
| AL445238.1 | - | - | - | - | 5 | Amp | ND |
| AL445989.1 | - | - | - | - | 5 | Amp | ND |
| AL592490.1 | - | - | - | - | 3 | Gain | ND |
| ALDH6A1 | p.A92V | Missense | SNP | 0.528 | 2 | - | ND |
| ALK | p.G761D | Missense | SNP | 0.458 | 2 | - | ND |
| ALX1 | p.G120V | Missense | SNP | 0.431 | 2 | - | ND |
| AMDHD2 | - | - | - | - | 1 | Loss | ND |
| AMER2 | p.E312D | Missense | SNP | 0.455 | 2 | - | ND |
| AMH | p.G264C | Missense | SNP | 0.500 | 2 | - | ND |
| AMIGO1 | p.N111T | Missense | SNP | 0.543 | 2 | - | ND |
| AMIGO3 | p.A62D | Missense | SNP | 0.447 | 2 | - | ND |
| ANAPC7 | p.L464S | Missense | SNP | 0.397 | 2 | - | ND |
| ANGPT1 | p.N182D | Missense | SNP | 0.532 | 2 | - | ND |
| ANGPT4 | - | - | - | - | 3 | Gain | ND |
| ANK2 | p.A195V p.M1510I | Missense Missense | SNP SNP | 0.481 0.457 | 2 | - | ND |
| ANKEF1 | - | - | - | - | 3 | Gain | ND |
| ANKFY1 | p.T1088M | Missense | SNP | 0.377 | 2 | - | ND |
| ANKRD10 | - | - | - | - | 3 | Gain | ND |
| ANKRD24 | p.R1004H | Missense | SNP | 0.583 | 2 | - | ND |
| ANKRD34A | p.V13M | Missense | SNP | 0.512 | 2 | - | ND |
| ANKRD36 | p.R96S | Missense | SNP | 0.449 | 2 | - | ND |
| ANKRD53 | p.P30Q | Missense | SNP | 0.554 | 2 | - | ND |
| AP2A1 | p.R516H | Missense | SNP | 0.514 | 2 | - | ND |
| AP5S1 | - | - | - | - | 3 | Gain | ND |
| APMAP | - | - | - | - | 3 | Gain | ND |
| APOL6 | p.V216M | Missense | SNP | 0.560 | 2 | - | ND |
| AQP6 | p.H184N | Missense | SNP | 0.542 | 2 | - | ND |
| AQR | p.P959Q | Missense | SNP | 0.140 | 2 | - | ND |
| ARAP2 | p.S939P | Missense | SNP | 0.481 | 2 | - | ND |
| ARFGEF1 | p.T823I | Missense | SNP | 0.574 | 2 | - | ND |
| ARGLU1 | - | - | - | - | 3 | Gain | ND |
| ARHGAP15 | p.A378V | Missense | SNP | 0.429 | 2 | - | ND |
| ARHGAP17 | p.L629M | Missense | SNP | 0.446 | 2 | - | ND |
| ARHGAP21 | p.A688D | Missense | SNP | 0.504 | 2 | - | ND |
| ARHGAP23 | p.R1327C | Missense | SNP | 0.600 | 2 | - | ND |
| ARHGAP28 | p.H293N | Missense | SNP | 0.448 | 2 | - | ND |
| ARHGAP31 | p.L715P | Missense | SNP | 0.561 | 2 | - | ND |
| ARHGAP33 | p.R1075K | Missense | SNP | 0.461 | 2 | - | ND |
| ARHGAP35 | p.L497F | Missense | SNP | 0.435 | 2 | - | ND |
| ARHGAP6 | p.W947L | Missense | SNP | 0.509 | ND | ND | ND |
| ARHGDIG | - | - | - | - | 1 | Loss | ND |
| ARHGEF7 | - | - | - | - | 3 | Gain | ND |
| ARRDC5 | p.C138Y | Missense | SNP | 0.438 | 2 | - | ND |
| ARSF | p.R354Q | Missense | SNP | 0.476 | ND | ND | ND |
| ASB2 | p.T456I | Missense | SNP | 0.460 | 2 | - | ND |
| ASCC3 | p.T1755I | Missense | SNP | 0.542 | 2 | - | ND |
| ASIP | - | - | - | - | 1 | Loss | ND |
| ASTN1 | p.A145T | Missense | SNP | 0.356 | 2 | - | ND |
| ASXL1 | - | - | - | - | 1 | Loss | ND |
| ATAD2B | p.M1120I | Missense | SNP | 0.464 | 2 | - | ND |
| ATCAY | p.K176R | Missense | SNP | 0.504 | 2 | - | ND |
| ATF7IP2 | p.D223N | Missense | SNP | 0.577 | 2 | - | ND |
| ATG101 | p.L200M | Missense | SNP | 0.444 | 2 | - | ND |
| ATG13 | p.X483_splice | Splice_Site | SNP | 0.452 | 2 | - | ND |
| ATG3 | p.K131N | Missense | SNP | 0.434 | 2 | - | ND |
| ATG4B | p.A47E | Missense | SNP | 0.536 | 2 | - | ND |
| ATM | p.T2636I | Missense | SNP | 0.452 | 2 | - | ND |
| ATN1 | p.S119N | Missense | SNP | 0.488 | 2 | - | ND |
| ATP11A | - | - | - | - | 3 | Gain | ND |
| ATP13A1 | p.T401M | Missense | SNP | 0.472 | 2 | - | ND |
| ATP1A2 | p.R225H | Missense | SNP | 0.534 | 2 | - | ND |
| ATP1A3 | p.X171_splice | Splice_Site | DNP | 0.466 | 2 | - | ND |
| ATP1A4 | p.M403I | Missense | SNP | 0.482 | 2 | - | ND |
| ATP2A2 | p.T242S | Missense | SNP | 0.463 | 2 | - | ND |
| ATP4B | - | - | - | - | 3 | Gain | ND |
| ATP5J2-PTCD1 | p.M26I | Missense | SNP | 0.493 | ND | ND | ND |
| ATP6V0C | - | - | - | - | 1 | Loss | ND |
| ATP7A | p.D609N | Missense | SNP | 0.429 | ND | ND | ND |
| ATP7B | p.R166Q | Missense | SNP | 0.491 | 2 | - | ND |
| ATP8B2 | p.A1066T | Missense | SNP | 0.536 | 2 | - | ND |
| ATP9A | p.K404N | Missense | SNP | 0.484 | 2 | - | ND |
| ATRN | p.A6E | Missense | SNP | 0.678 | 3 | Gain | ND |
| AVP | - | - | - | - | 3 | Gain | ND |
| AXIN1 | - | - | - | - | 1 | Loss | ND |
| B3GALT4 | p.Q135* | Nonsense | SNP | 0.486 | 2 | - | ND |
| B3GALT5 | p.P268R | Missense | SNP | 0.375 | 2 | - | ND |
| B3GNT9 | p.V234M | Missense | SNP | 0.226 | 5 | Amp | ND |
| BAIAP3 | p.D1113N | Missense | SNP | 1.000 | 1 | Loss | ND |
| BANF2 | - | - | - | - | 3 | Gain | ND |
| BANP | p.S445N | Missense | SNP | 0.446 | 2 | - | ND |
| BCAT2 | p.S179L | Missense | SNP | 0.508 | 2 | - | ND |
| BCL11B | p.G655R | Missense | SNP | 0.538 | 2 | - | ND |
| BCL2L1 | - | - | - | - | 1 | Loss | ND |
| BCL7A | p.P214Q | Missense | SNP | 0.372 | 2 | - | ND |
| BCL9L | p.P314L | Missense | SNP | 0.574 | 2 | - | ND |
| BEX1 | p.Q74* | Nonsense | SNP | 0.457 | ND | ND | ND |
| BFSP1 | - | - | - | - | 3 | Gain | ND |
| BICD2 | p.T391A | Missense | SNP | 0.498 | 2 | - | ND |
| BICDL2 | - | - | - | - | 1 | Loss | ND |
| BIN2 | p.Q440K | Missense | SNP | 0.497 | 2 | - | ND |
| BIVM | - | - | - | - | 3 | Gain | ND |
| BIVM-ERCC5 | - | - | - | - | 3 | Gain | ND |
| BLOC1S5 | p.S101N | Missense | SNP | 0.541 | 2 | - | ND |
| BMP2 | - | - | - | - | 3 | Gain | ND |
| BMPR1A | p.T229I | Missense | SNP | 0.452 | 2 | - | ND |
| BMPR2 | p.R213* | Nonsense | SNP | 0.502 | 2 | - | ND |
| BORA | p.A75V | Missense | SNP | 0.278 | 3 | Gain | ND |
| BPIFA1 | - | - | - | - | 1 | Loss | ND |
| BPIFA2 | - | - | - | - | 1 | Loss | ND |
| BPIFA3 | - | - | - | - | 1 | Loss | ND |
| BPIFB1 | - | - | - | - | 1 | Loss | ND |
| BPIFB2 | - | - | - | - | 1 | Loss | ND |
| BPIFB3 | - | - | - | - | 1 | Loss | ND |
| BPIFB4 | - | - | - | - | 1 | Loss | ND |
| BPIFB6 | - | - | - | - | 1 | Loss | ND |
| BRAF | p.V600E | Missense | SNP | 0.592 | ND | ND | ND |
| BRCA2 | p.D2611N | Missense | SNP | 0.450 | 2 | - | ND |
| BRD8 | p.L315V | Missense | SNP | 0.463 | 2 | - | ND |
| BRDT | p.G413R | Missense | SNP | 0.469 | 2 | - | ND |
| BRICD5 | - | - | - | - | 1 | Loss | ND |
| BRIX1 | p.E37K | Missense | SNP | 0.465 | 2 | - | ND |
| BTBD11 | p.R228H | Missense | SNP | 0.435 | 2 | - | ND |
| BTBD3 | - | - | - | - | 3 | Gain | ND |
| BYSL | p.E128D | Missense | SNP | 0.431 | 2 | - | ND |
| C10orf54 | p.M233I | Missense | SNP | 0.520 | ND | ND | ND |
| C10orf71 | p.V258I | Missense | SNP | 0.538 | 2 | - | ND |
| C11orf21 | p.P80S | Missense | SNP | 0.448 | 2 | - | ND |
| C11orf68 | p.K240M | Missense | SNP | 0.534 | 2 | - | ND |
| C11orf84 | p.A32T | Missense | SNP | 0.616 | ND | ND | ND |
| C15orf48 | p.T21N | Missense | SNP | 0.475 | 2 | - | ND |
| C16orf70 | - | - | - | - | 5 | Amp | ND |
| C16orf90 | - | - | - | - | 1 | Loss | ND |
| C16orf91 | - | - | - | - | 1 | Loss | ND |
| C17orf53 | p.S513N | Missense | SNP | 0.472 | 2 | - | ND |
| C17orf58 | p.Q57K | Missense | SNP | 0.537 | 2 | - | ND |
| C19orf52 | p.A136V | Missense | SNP | 0.382 | ND | ND | ND |
| C1orf112 | p.D594G | Missense | SNP | 0.472 | 2 | - | ND |
| C1orf167 | p.R742L | Missense | SNP | 0.481 | 2 | - | ND |
| C1orf50 | p.L56I | Missense | SNP | 0.450 | 2 | - | ND |
| C1QTNF8 | - | - | - | - | 1 | Loss | ND |
| C2 | p.L241M | Missense | SNP | 0.407 | 2 | - | ND |
| C20orf141 | - | - | - | - | 3 | Gain | ND |
| C20orf144 | - | - | - | - | 1 | Loss | ND |
| C20orf173 | - | - | - | - | 1 | Loss | ND |
| C20orf194 | - | - | - | - | 3 | Gain | ND |
| C20orf202 | - | - | - | - | 3 | Gain | ND |
| C20orf203 | - | - | - | - | 1 | Loss | ND |
| C20orf24 | p.Q90H | Missense | SNP | 0.425 | ND | ND | ND |
| C20orf27 | - | - | - | - | 3 | Gain | ND |
| C20orf96 | - | - | - | - | 3 | Gain | ND |
| C2orf80 | p.S133N | Missense | SNP | 0.412 | 2 | - | ND |
| C3 | p.T329I | Missense | SNP | 0.415 | 2 | - | ND |
| C3AR1 | p.S74P | Missense | SNP | 0.458 | 2 | - | ND |
| C3orf22 | p.Q18R | Missense | SNP | 0.500 | 2 | - | ND |
| C4A | - | - | - | - | 1 | Loss | ND |
| C4B | - | - | - | - | 1 | Loss | ND |
| C4orf48 | p.C123Y | Missense | SNP | 0.514 | 2 | - | ND |
| C8orf48 | p.R44Q | Missense | SNP | 0.506 | 2 | - | ND |
| C9orf69 | p.T66I | Missense | SNP | 0.475 | ND | ND | ND |
| C9orf84 | p.G874R | Missense | SNP | 0.526 | 2 | - | ND |
| CACNA1B | p.P538T p.V1704L | Missense Missense | SNP SNP | 0.522 0.447 | 2 | - | ND |
| CACNA1G | p.V230I | Missense | SNP | 0.414 | 2 | - | ND |
| CACNA1H | - | - | - | - | 1 | Loss | ND |
| CACNA2D4 | p.P36L | Missense | SNP | 0.497 | 2 | - | ND |
| CACNB4 | p.Y398* p.Q164* | Nonsense Nonsense | SNP SNP | 0.491 0.447 | 2 | - | ND |
| CAD | p.W743* | Nonsense | SNP | 0.462 | 2 | - | ND |
| CADM4 | p.V247I | Missense | SNP | 0.398 | 2 | - | ND |
| CALN1 | p.R232W | Missense | SNP | 0.457 | 2 | - | ND |
| CAPN15 | - | - | - | - | 1 | Loss | ND |
| CARMIL2 | p.D226N p.A689V | Missense Missense | SNP SNP | 0.503 0.490 | 2 | - | ND |
| CARS2 | - | - | - | - | 3 | Gain | ND |
| CASKIN1 | - | - | - | - | 1 | Loss | ND |
| CASP10 | p.L384P | Missense | SNP | 0.438 | 2 | - | ND |
| CASP8AP2 | p.V1703I | Missense | SNP | 0.426 | 2 | - | ND |
| CATSPERG | p.S155N | Missense | SNP | 0.532 | 2 | - | ND |
| CBFA2T2 | - | - | - | - | 1 | Loss | ND |
| CBL | p.A221V | Missense | SNP | 0.442 | 2 | - | ND |
| CCDC102A | p.R31H | Missense | SNP | 0.562 | ND | ND | ND |
| CCDC149 | p.A300V | Missense | SNP | 0.457 | 2 | - | ND |
| CCDC154 | - | - | - | - | 1 | Loss | ND |
| CCDC168 | p.T1109I | Missense | SNP | 0.378 | 3 | Gain | ND |
| CCDC170 | p.X197_splice | Splice_Site | SNP | 0.342 | 2 | - | ND |
| CCDC34 | p.Q347K | Missense | SNP | 0.460 | 2 | - | ND |
| CCDC36 | p.E172D | Missense | SNP | 0.456 | 2 | - | ND |
| CCDC47 | p.V241M | Missense | SNP | 0.497 | 2 | - | ND |
| CCDC60 | p.H161R p.E517Q | Missense Missense | SNP SNP | 0.484 0.429 | 2 | - | ND |
| CCDC78 | - | - | - | - | 1 | Loss | ND |
| CCKBR | p.D254N | Missense | SNP | 0.468 | 2 | - | ND |
| CCM2L | - | - | - | - | 1 | Loss | ND |
| CCNF | - | - | - | - | 1 | Loss | ND |
| CCNJL | p.L313V | Missense | SNP | 0.485 | 2 | - | ND |
| CCR5 | p.T284I | Missense | SNP | 0.446 | 2 | - | ND |
| CD163 | p.E764* | Nonsense | SNP | 0.505 | 2 | - | ND |
| CD276 | p.A432V | Missense | SNP | 0.581 | 2 | - | ND |
| CD4 | p.Q137K | Missense | SNP | 0.471 | 2 | - | ND |
| CD93 | - | - | - | - | 3 | Gain | ND |
| CD96 | p.V505I | Missense | SNP | 0.484 | 2 | - | ND |
| CDC16 | - | - | - | - | 3 | Gain | ND |
| CDC25B | p.L34M | Missense | SNP | 0.361 | 3 | Gain | ND |
| CDH22 | p.T562M | Missense | SNP | 0.520 | 2 | - | ND |
| CDH23 | p.R2112* | Nonsense | SNP | 0.487 | 2 | - | ND |
| CDH6 | p.W770C | Missense | SNP | 0.495 | 2 | - | ND |
| CDH7 | p.R771* | Nonsense | SNP | 1.000 | 2 | - | ND |
| CDHR2 | p.V418L | Missense | SNP | 0.418 | 2 | - | ND |
| CDK5RAP1 | - | - | - | - | 1 | Loss | ND |
| CDKL5 | p.V192M | Missense | SNP | 0.447 | ND | ND | ND |
| CDON | p.G393V | Missense | SNP | 0.493 | 2 | - | ND |
| CDS2 | - | - | - | - | 3 | Gain | ND |
| CEACAM1 | p.D116E | Missense | SNP | 0.463 | 2 | - | ND |
| CECR1 | p.A448S | Missense | SNP | 0.507 | ND | ND | ND |
| CEMP1 | - | - | - | - | 1 | Loss | ND |
| CENPB | - | - | - | - | 3 | Gain | ND |
| CENPU | p.R319C | Missense | SNP | 0.474 | 2 | - | ND |
| CEP250 | - | - | - | - | 1 | Loss | ND |
| CFAP61 | - | - | - | - | 3 | Gain | ND |
| CFAP74 | p.P1106Q | Missense | SNP | 0.531 | 2 | - | ND |
| CFH | p.M340T | Missense | SNP | 0.552 | 2 | - | ND |
| CGNL1 | p.Q199* | Nonsense | SNP | 0.468 | 2 | - | ND |
| CHAMP1 | - | - | - | - | 3 | Gain | ND |
| CHCHD2 | p.X149_splice | Splice_Site | SNP | 0.436 | 2 | - | ND |
| CHD3 | p.V36E | Missense | SNP | 0.480 | 2 | - | ND |
| CHD7 | p.P532T | Missense | SNP | 0.442 | 2 | - | ND |
| CHD8 | p.G266W | Missense | SNP | 0.503 | 2 | - | ND |
| CHGB | - | - | - | - | 3 | Gain | ND |
| CHMP4B | - | - | - | - | 1 | Loss | ND |
| CHRM4 | p.I410V | Missense | SNP | 0.441 | 2 | - | ND |
| CHRNB4 | p.W143* | Nonsense | SNP | 0.485 | 2 | - | ND |
| CHST7 | p.P174L | Missense | SNP | 0.504 | ND | ND | ND |
| CHTF18 | - | - | - | - | 1 | Loss | ND |
| CIAO3 | - | - | - | - | 1 | Loss | ND |
| CILP2 | p.R735H | Missense | SNP | 0.545 | 2 | - | ND |
| CKAP2 | - | - | - | - | 3 | Gain | ND |
| CLASRP | p.P287H | Missense | SNP | 0.312 | 2 | - | ND |
| CLCN2 | p.G382C | Missense | SNP | 0.505 | 2 | - | ND |
| CLCN7 | p.G820D | Missense | SNP | 1.000 | 1 | Loss | ND |
| CLDN10 | - | - | - | - | 3 | Gain | ND |
| CLDN19 | p.S217P | Missense | SNP | 0.604 | 2 | - | ND |
| CLDN6 | - | - | - | - | 1 | Loss | ND |
| CLDN9 | - | - | - | - | 1 | Loss | ND |
| CLEC17A | p.E22D | Missense | SNP | 0.579 | 2 | - | ND |
| CLEC6A | p.E120D | Missense | SNP | 0.475 | 2 | - | ND |
| CLN5 | - | - | - | - | 3 | Gain | ND |
| CLNS1A | p.S50Y | Missense | SNP | 0.402 | 2 | - | ND |
| CLSTN1 | p.Q266* | Nonsense | SNP | 0.562 | 2 | - | ND |
| CLUAP1 | - | - | - | - | 1 | Loss | ND |
| CLUH | p.S1123L | Missense | SNP | 0.496 | 2 | - | ND |
| CLYBL | - | - | - | - | 3 | Gain | ND |
| CMYA5 | p.G1579C | Missense | SNP | 0.429 | 2 | - | ND |
| CNBD2 | - | - | - | - | 1 | Loss | ND |
| CNMD | - | - | - | - | 3 | Gain | ND |
| CNNM2 | p.L378I | Missense | SNP | 0.475 | 2 | - | ND |
| CNOT10 | p.P786L | Missense | SNP | 0.478 | 2 | - | ND |
| CNOT3 | p.K356R | Missense | SNP | 0.559 | 2 | - | ND |
| CNTN5 | p.R245W | Missense | SNP | 0.528 | 2 | - | ND |
| COCH | p.A3T p.G476W | Missense Missense | SNP SNP | 0.519 0.433 | 2 | - | ND |
| COL11A1 | p.V405L | Missense | SNP | 0.478 | 2 | - | ND |
| COL11A2 | p.G300E | Missense | SNP | 0.538 | 2 | - | ND |
| COL22A1 | p.G1576* | Nonsense | SNP | 0.305 | 2 | - | ND |
| COL24A1 | p.G561A | Missense | SNP | 0.463 | 2 | - | ND |
| COL2A1 | p.P970S p.G504S | Missense Missense | SNP SNP | 0.529 0.500 | 2 | - | ND |
| COL4A1 | p.G732R p.X374_splice | Missense Splice_Site | SNP SNP | 0.334 0.317 | 3 | Gain | ND |
| COL4A2 | - | - | - | - | 3 | Gain | ND |
| COL4A4 | p.P709H p.G539R | Missense Missense | SNP SNP | 0.475 0.520 | 2 | - | ND |
| COL5A2 | p.P685L | Missense | SNP | 0.478 | 2 | - | ND |
| COL6A1 | p.A965T | Missense | SNP | 0.485 | 2 | - | ND |
| COL6A5 | p.S143L | Missense | SNP | 0.468 | 2 | - | ND |
| COL6A6 | p.A889V | Missense | SNP | 0.542 | 2 | - | ND |
| COL7A1 | p.T389A | Missense | SNP | 0.488 | 2 | - | ND |
| COL8A1 | p.G167W p.N608H | Missense Missense | SNP SNP | 0.497 0.429 | 2 | - | ND |
| COMMD6 | - | - | - | - | 3 | Gain | ND |
| COMMD7 | - | - | - | - | 1 | Loss | ND |
| COPA | p.H102N | Missense | SNP | 0.459 | 2 | - | ND |
| COPG1 | p.A831V | Missense | SNP | 0.497 | 2 | - | ND |
| COPS2 | p.R169* | Nonsense | SNP | 0.403 | 2 | - | ND |
| COQ4 | p.W143L | Missense | SNP | 0.532 | 2 | - | ND |
| COX4I2 | - | - | - | - | 1 | Loss | ND |
| CPAMD8 | p.L1496M | Missense | SNP | 0.473 | 2 | - | ND |
| CPD | p.G324D | Missense | SNP | 0.433 | 2 | - | ND |
| CPNE1 | - | - | - | - | 1 | Loss | ND |
| CPNE5 | p.X46_splice | Splice_Site | SNP | 0.472 | 2 | - | ND |
| CPXM1 | - | - | - | - | 3 | Gain | ND |
| CRAMP1 | - | - | - | - | 1 | Loss | ND |
| CREB1 | p.P132L | Missense | SNP | 0.506 | 2 | - | ND |
| CREB3L1 | p.A151T | Missense | SNP | 0.504 | 2 | - | ND |
| CREBBP | p.Q2157K | Missense | SNP | 1.000 | 1 | Loss | ND |
| CRLS1 | - | - | - | - | 3 | Gain | ND |
| CRMP1 | p.R113H | Missense | SNP | 0.438 | 2 | - | ND |
| CRNKL1 | - | - | - | - | 3 | Gain | ND |
| CROCC2 | p.E1315* | Nonsense | SNP | 0.439 | 2 | - | ND |
| CRYGA | p.R147K | Missense | SNP | 0.467 | 2 | - | ND |
| CSMD2 | p.P2199R | Missense | SNP | 0.522 | 2 | - | ND |
| CSMD3 | p.A3269V | Missense | SNP | 0.426 | 2 | - | ND |
| CSNK2A1 | - | - | - | - | 3 | Gain | ND |
| CSNK2A3 | p.I174M | Missense | SNP | 0.433 | 2 | - | ND |
| CST1 | - | - | - | - | 3 | Gain | ND |
| CST11 | - | - | - | - | 3 | Gain | ND |
| CST2 | - | - | - | - | 3 | Gain | ND |
| CST3 | - | - | - | - | 3 | Gain | ND |
| CST4 | - | - | - | - | 3 | Gain | ND |
| CST5 | - | - | - | - | 3 | Gain | ND |
| CST7 | - | - | - | - | 3 | Gain | ND |
| CST8 | - | - | - | - | 3 | Gain | ND |
| CST9 | - | - | - | - | 3 | Gain | ND |
| CST9L | - | - | - | - | 3 | Gain | ND |
| CSTL1 | - | - | - | - | 3 | Gain | ND |
| CT83 | p.G105C | Missense | SNP | 0.510 | ND | ND | ND |
| CTNND2 | p.E72* | Nonsense | SNP | 0.476 | 2 | - | ND |
| CTPS1 | p.G451D | Missense | SNP | 0.519 | 2 | - | ND |
| CTR9 | p.S1112R | Missense | SNP | 0.457 | 2 | - | ND |
| CUL4A | - | - | - | - | 3 | Gain | ND |
| CUL9 | p.H1599Y | Missense | SNP | 0.435 | 2 | - | ND |
| CYLC1 | p.K304T | Missense | SNP | 0.520 | ND | ND | ND |
| CYP1B1 | p.V235L | Missense | SNP | 0.549 | 2 | - | ND |
| CYP26C1 | p.R457H | Missense | SNP | 0.500 | 2 | - | ND |
| CYP3A7 | p.V71I | Missense | SNP | 0.359 | 2 | - | ND |
| CYP46A1 | p.R261H | Missense | SNP | 0.589 | 2 | - | ND |
| CYP4F22 | p.R55Q | Missense | SNP | 0.408 | 2 | - | ND |
| DACH1 | - | - | - | - | 3 | Gain | ND |
| DAOA | - | - | - | - | 3 | Gain | ND |
| DARS2 | p.D393G | Missense | SNP | 0.488 | 2 | - | ND |
| DAXX | p.R391I p.R328H | Missense Missense | SNP SNP | 0.452 0.485 | 2 | - | ND |
| DBX1 | p.Q30* | Nonsense | SNP | 0.528 | 2 | - | ND |
| DCAF1 | p.A1339T | Missense | SNP | 0.462 | 2 | - | ND |
| DCAF12L1 | p.T115A | Missense | SNP | 0.443 | ND | ND | ND |
| DCT | - | - | - | - | 3 | Gain | ND |
| DCUN1D2 | - | - | - | - | 3 | Gain | ND |
| DCUN1D3 | p.Q251K | Missense | SNP | 0.525 | 2 | - | ND |
| DCX | p.F338I | Missense | SNP | 0.517 | ND | ND | ND |
| DDRGK1 | - | - | - | - | 3 | Gain | ND |
| DDX4 | p.R51T | Missense | SNP | 0.422 | 2 | - | ND |
| DDX53 | p.Q360K | Missense | SNP | 0.471 | ND | ND | ND |
| DECR2 | - | - | - | - | 1 | Loss | ND |
| DEF6 | p.A294V | Missense | SNP | 0.431 | 2 | - | ND |
| DEFB103A | - | - | - | - | 1 | Loss | ND |
| DEFB103B | - | - | - | - | 1 | Loss | ND |
| DEFB104A | - | - | - | - | 1 | Loss | ND |
| DEFB104B | - | - | - | - | 1 | Loss | ND |
| DEFB105A | - | - | - | - | 1 | Loss | ND |
| DEFB105B | - | - | - | - | 1 | Loss | ND |
| DEFB106A | - | - | - | - | 1 | Loss | ND |
| DEFB106B | - | - | - | - | 1 | Loss | ND |
| DEFB107A | - | - | - | - | 1 | Loss | ND |
| DEFB107B | - | - | - | - | 1 | Loss | ND |
| DEFB115 | - | - | - | - | 1 | Loss | ND |
| DEFB116 | - | - | - | - | 1 | Loss | ND |
| DEFB118 | - | - | - | - | 1 | Loss | ND |
| DEFB119 | - | - | - | - | 1 | Loss | ND |
| DEFB121 | - | - | - | - | 1 | Loss | ND |
| DEFB123 | - | - | - | - | 1 | Loss | ND |
| DEFB124 | - | - | - | - | 1 | Loss | ND |
| DEFB125 | - | - | - | - | 3 | Gain | ND |
| DEFB126 | - | - | - | - | 3 | Gain | ND |
| DEFB127 | - | - | - | - | 3 | Gain | ND |
| DEFB128 | - | - | - | - | 3 | Gain | ND |
| DEFB129 | - | - | - | - | 3 | Gain | ND |
| DEFB132 | - | - | - | - | 3 | Gain | ND |
| DEFB4A | - | - | - | - | 1 | Loss | ND |
| DEFB4B | - | - | - | - | 1 | Loss | ND |
| DENND1A | p.Q898H | Missense | SNP | 0.517 | 2 | - | ND |
| DENND6B | p.Q56H | Missense | SNP | 0.557 | 2 | - | ND |
| DERA | p.I18T | Missense | SNP | 0.498 | 2 | - | ND |
| DGKE | p.L263F | Missense | SNP | 0.469 | 2 | - | ND |
| DHODH | p.E190D | Missense | SNP | 0.426 | 2 | - | ND |
| DHX30 | p.R17C | Missense | SNP | 0.505 | 2 | - | ND |
| DIAPH3 | - | - | - | - | 3 | Gain | ND |
| DICER1 | p.Q1702H | Missense | SNP | 0.500 | 2 | - | ND |
| DIEXF | p.V116L | Missense | SNP | 0.422 | ND | ND | ND |
| DIP2C | p.V834M | Missense | SNP | 0.525 | 2 | - | ND |
| DIS3 | - | - | - | - | 3 | Gain | ND |
| DLG2 | p.C7F | Missense | SNP | 0.450 | 2 | - | ND |
| DLG3 | p.R271C | Missense | SNP | 0.500 | ND | ND | ND |
| DLGAP2 | p.T129M | Missense | SNP | 0.506 | 2 | - | ND |
| DLGAP3 | p.R668* | Nonsense | SNP | 0.498 | 2 | - | ND |
| DLL3 | p.R302C | Missense | SNP | 0.578 | 2 | - | ND |
| DLX6 | p.K165E | Missense | SNP | 0.523 | 2 | - | ND |
| DMD | p.A2533T | Missense | SNP | 0.408 | ND | ND | ND |
| DMXL1 | p.R1676M | Missense | SNP | 0.406 | 2 | - | ND |
| DMXL2 | p.F2491L | Missense | SNP | 0.304 | 2 | - | ND |
| DNAH3 | p.L2733P | Missense | SNP | 0.395 | 2 | - | ND |
| DNAH8 | p.R434P | Missense | SNP | 0.456 | 2 | - | ND |
| DNAJC17 | p.X265_splice p.R157M | Splice_Site Missense | SNP SNP | 0.407 0.500 | 2 | - | ND |
| DNAJC28 | p.L358F | Missense | SNP | 0.442 | 2 | - | ND |
| DNAJC3 | - | - | - | - | 3 | Gain | ND |
| DNASE1 | - | - | - | - | 1 | Loss | ND |
| DNASE1L2 | - | - | - | - | 1 | Loss | ND |
| DNMT3B | - | - | - | - | 1 | Loss | ND |
| DNTTIP1 | p.L207M | Missense | SNP | 0.440 | 2 | - | ND |
| DOC2A | p.K207Q | Missense | SNP | 0.511 | 2 | - | ND |
| DOCK5 | p.E307K | Missense | SNP | 0.464 | 2 | - | ND |
| DOCK7 | p.R1547K | Missense | SNP | 0.427 | 2 | - | ND |
| DOCK9 | - | - | - | - | 3 | Gain | ND |
| DOLK | p.L171F | Missense | SNP | 0.500 | 2 | - | ND |
| DOPEY2 | p.Q1480* p.L1757P | Nonsense Missense | SNP SNP | 0.441 0.502 | ND | ND | ND |
| DPCR1 | p.N983H | Missense | SNP | 0.503 | ND | ND | ND |
| DPF3 | p.G375C | Missense | SNP | 0.506 | 2 | - | ND |
| DPP3 | p.L658R | Missense | SNP | 0.405 | 2 | - | ND |
| DPP9 | p.A627E | Missense | SNP | 0.479 | 2 | - | ND |
| DPPA2 | p.A196D | Missense | SNP | 0.445 | 2 | - | ND |
| DRAXIN | p.H139Q | Missense | SNP | 0.486 | 2 | - | ND |
| DRD3 | p.S244F | Missense | SNP | 0.439 | 2 | - | ND |
| DSC2 | p.C15Y | Missense | SNP | 0.510 | 2 | - | ND |
| DSP | p.A2691G | Missense | SNP | 0.516 | 2 | - | ND |
| DSTN | - | - | - | - | 3 | Gain | ND |
| DTD1 | - | - | - | - | 3 | Gain | ND |
| DTL | p.Q33H | Missense | SNP | 0.469 | 2 | - | ND |
| DTX4 | p.P508H | Missense | SNP | 0.506 | 2 | - | ND |
| DUOX2 | p.G1236D | Missense | SNP | 0.532 | 2 | - | ND |
| DUS3L | p.E504* | Nonsense | SNP | 0.463 | 2 | - | ND |
| DUSP15 | - | - | - | - | 1 | Loss | ND |
| DUSP5 | p.M307I | Missense | SNP | 0.474 | 2 | - | ND |
| DYNLRB1 | - | - | - | - | 1 | Loss | ND |
| DYSF | p.A1611T | Missense | SNP | 0.565 | 2 | - | ND |
| DZANK1 | - | - | - | - | 3 | Gain | ND |
| DZIP1 | p.Q438* | Nonsense | SNP | 0.337 | 3 | Gain | ND |
| E2F1 | p.L395P | Missense | SNP | 1.000 | 1 | Loss | ND |
| E2F4 | - | - | - | - | 5 | Amp | ND |
| E4F1 | - | - | - | - | 1 | Loss | ND |
| EBF1 | p.S7N | Missense | SNP | 0.495 | 2 | - | ND |
| EBF3 | p.R246C p.R209W | Missense Missense | SNP SNP | 0.523 0.414 | 2 | - | ND |
| EBF4 | - | - | - | - | 3 | Gain | ND |
| ECI1 | - | - | - | - | 1 | Loss | ND |
| ECM1 | p.P466L | Missense | SNP | 0.482 | 2 | - | ND |
| EDA | p.P187L | Missense | SNP | 0.427 | ND | ND | ND |
| EDEM2 | - | - | - | - | 1 | Loss | ND |
| EDNRB | - | - | - | - | 3 | Gain | ND |
| EEF1G | p.C68S | Missense | SNP | 0.553 | 2 | - | ND |
| EFCAB13 | p.H6N | Missense | SNP | 0.464 | 2 | - | ND |
| EFCAB8 | - | - | - | - | 1 | Loss | ND |
| EFNB2 | - | - | - | - | 3 | Gain | ND |
| EFR3A | p.Q529P | Missense | SNP | 0.415 | 2 | - | ND |
| EGR1 | p.R336C | Missense | SNP | 0.445 | 2 | - | ND |
| EHBP1 | p.R1189H | Missense | SNP | 0.450 | 2 | - | ND |
| EHMT1 | p.G325D | Missense | SNP | 0.467 | 2 | - | ND |
| EIF2A | p.T246S | Missense | SNP | 0.480 | 2 | - | ND |
| EIF2S2 | - | - | - | - | 1 | Loss | ND |
| EIF3H | p.T123I | Missense | SNP | 0.520 | 2 | - | ND |
| EIF6 | - | - | - | - | 1 | Loss | ND |
| ELF2 | p.A480T | Missense | SNP | 0.502 | 2 | - | ND |
| ELFN2 | p.P258H | Missense | SNP | 0.498 | 2 | - | ND |
| ELL3 | p.P235S | Missense | SNP | 0.436 | 2 | - | ND |
| ELMO3 | - | - | - | - | 5 | Amp | ND |
| ELOB | - | - | - | - | 1 | Loss | ND |
| EME2 | - | - | - | - | 1 | Loss | ND |
| EMILIN3 | p.R549C | Missense | SNP | 0.461 | 2 | - | ND |
| EML2 | p.R79P | Missense | SNP | 0.533 | 2 | - | ND |
| EMSY | p.A539V | Missense | SNP | 0.486 | 2 | - | ND |
| ENPP1 | p.A546T | Missense | SNP | 0.478 | 2 | - | ND |
| ENTPD6 | - | - | - | - | 3 | Gain | ND |
| EP400 | p.R1880W | Missense | SNP | 0.430 | 2 | - | ND |
| EPHA5 | p.L450V | Missense | SNP | 0.371 | 2 | - | ND |
| EPHX3 | p.G336W | Missense | SNP | 0.444 | 2 | - | ND |
| EPHX4 | p.S335T | Missense | SNP | 0.425 | 2 | - | ND |
| EPPK1 | - | - | - | - | 1 | Loss | ND |
| ERCC5 | - | - | - | - | 3 | Gain | ND |
| ERFE | p.R98S | Missense | SNP | 0.547 | 2 | - | ND |
| ERGIC3 | - | - | - | - | 1 | Loss | ND |
| ERO1A | p.P185L | Missense | SNP | 0.485 | 2 | - | ND |
| ERVMER34-1 | p.A534T | Missense | SNP | 0.505 | 2 | - | ND |
| ESF1 | - | - | - | - | 3 | Gain | ND |
| ESPL1 | p.R664K | Missense | SNP | 0.458 | 2 | - | ND |
| ETV3L | p.R78H | Missense | SNP | 0.476 | 2 | - | ND |
| EVA1A | p.V97M | Missense | SNP | 0.539 | 2 | - | ND |
| EVPL | p.Q1208* | Nonsense | SNP | 0.492 | 2 | - | ND |
| EXO5 | p.C352Y | Missense | SNP | 0.461 | 2 | - | ND |
| EXOC3L1 | - | - | - | - | 5 | Amp | ND |
| EXOSC8 | p.P81H | Missense | SNP | 0.542 | 2 | - | ND |
| EXTL3 | p.T35M | Missense | SNP | 0.489 | 2 | - | ND |
| F10 | p.A187D | Missense | SNP | 0.351 | 3 | Gain | ND |
| F7 | - | - | - | - | 3 | Gain | ND |
| FAHD1 | - | - | - | - | 1 | Loss | ND |
| FAM110A | - | - | - | - | 3 | Gain | ND |
| FAM111B | p.S112G | Missense | SNP | 0.460 | 2 | - | ND |
| FAM127B | p.N92Y | Missense | SNP | 0.517 | ND | ND | ND |
| FAM149B1 | p.G80W | Missense | SNP | 0.413 | 2 | - | ND |
| FAM155A | - | - | - | - | 3 | Gain | ND |
| FAM161B | p.Q487* | Nonsense | SNP | 0.369 | 2 | - | ND |
| FAM171A2 | p.G229C | Missense | SNP | 0.471 | 2 | - | ND |
| FAM173A | - | - | - | - | 1 | Loss | ND |
| FAM179B | p.L1487I | Missense | SNP | 0.532 | ND | ND | ND |
| FAM198A | p.L356M | Missense | SNP | 0.496 | 2 | - | ND |
| FAM198B | p.C351Y | Missense | SNP | 0.548 | 2 | - | ND |
| FAM208A | p.G1073D | Missense | SNP | 0.509 | 2 | - | ND |
| FAM21C | p.S31I | Missense | SNP | 0.595 | ND | ND | ND |
| FAM221B | p.A341T | Missense | SNP | 0.540 | 2 | - | ND |
| FAM234A | - | - | - | - | 1 | Loss | ND |
| FAM43B | p.R207C | Missense | SNP | 0.470 | 2 | - | ND |
| FAM71E2 | p.S316L | Missense | SNP | 0.349 | 2 | - | ND |
| FAM83C | - | - | - | - | 1 | Loss | ND |
| FAM83H | p.P112S | Missense | SNP | 0.446 | 2 | - | ND |
| FARP1 | - | - | - | - | 3 | Gain | ND |
| FARSB | p.X540_splice | Splice_Site | SNP | 0.400 | 2 | - | ND |
| FASTKD5 | - | - | - | - | 3 | Gain | ND |
| FAT3 | p.R4063C | Missense | SNP | 0.494 | 2 | - | ND |
| FBN1 | p.G479E | Missense | SNP | 0.505 | 2 | - | ND |
| FBN2 | p.Q257H | Missense | SNP | 0.529 | 2 | - | ND |
| FBXL13 | p.C489Y | Missense | SNP | 0.477 | 2 | - | ND |
| FBXL16 | - | - | - | - | 1 | Loss | ND |
| FBXL3 | - | - | - | - | 3 | Gain | ND |
| FBXL8 | p.A158T | Missense | SNP | 0.792 | 5 | Amp | ND |
| FBXO31 | p.P176L | Missense | SNP | 0.456 | 2 | - | ND |
| FBXO46 | p.G207C | Missense | SNP | 0.570 | 2 | - | ND |
| FCHSD1 | p.R671C | Missense | SNP | 0.491 | 2 | - | ND |
| FEM1C | p.S418I | Missense | SNP | 0.459 | 2 | - | ND |
| FERMT1 | - | - | - | - | 3 | Gain | ND |
| FGA | p.G301R | Missense | SNP | 0.543 | 2 | - | ND |
| FGD1 | p.G791V | Missense | SNP | 0.505 | ND | ND | ND |
| FGF14 | - | - | - | - | 3 | Gain | ND |
| FGFR1 | p.N794D | Missense | SNP | 0.447 | 2 | - | ND |
| FHL2 | p.C254Y | Missense | SNP | 0.603 | 2 | - | ND |
| FHOD1 | - | - | - | - | 5 | Amp | ND |
| FHOD3 | p.S802N | Missense | SNP | 1.000 | 2 | - | ND |
| FITM1 | p.W98* | Nonsense | SNP | 0.494 | 2 | - | ND |
| FKBP1A | - | - | - | - | 3 | Gain | ND |
| FLNA | p.K620N | Missense | SNP | 0.443 | ND | ND | ND |
| FLRT1 | p.R149C | Missense | SNP | 0.518 | 2 | - | ND |
| FLRT2 | - | - | - | - | 3 | Gain | ND |
| FLRT3 | - | - | - | - | 3 | Gain | ND |
| FLYWCH1 | - | - | - | - | 1 | Loss | ND |
| FLYWCH2 | - | - | - | - | 1 | Loss | ND |
| FO393400.1 | - | - | - | - | 1 | Loss | ND |
| FOXA1 | p.G318V | Missense | SNP | 0.608 | 2 | - | ND |
| FOXA2 | - | - | - | - | 3 | Gain | ND |
| FOXJ1 | p.Q84E | Missense | SNP | 0.382 | 2 | - | ND |
| FOXRED2 | p.R407C | Missense | SNP | 0.561 | 2 | - | ND |
| FOXS1 | - | - | - | - | 1 | Loss | ND |
| FPR1 | p.S215P | Missense | SNP | 0.422 | 2 | - | ND |
| FRA10AC1 | p.K262R | Missense | SNP | 0.440 | 2 | - | ND |
| FRAS1 | p.E1132K | Missense | SNP | 0.455 | 2 | - | ND |
| FREM1 | p.E1344Q | Missense | SNP | 0.345 | 2 | - | ND |
| FRMPD3 | p.G681W p.T786I | Missense Missense | SNP SNP | 0.493 0.516 | ND | ND | ND |
| FXR2 | p.R378M | Missense | SNP | 0.523 | 2 | - | ND |
| FZD6 | p.I86T | Missense | SNP | 0.478 | 2 | - | ND |
| GABRA1 | p.L221P | Missense | SNP | 0.435 | 2 | - | ND |
| GABRB1 | p.A363T | Missense | SNP | 0.469 | 2 | - | ND |
| GAD1 | p.R387H | Missense | SNP | 0.503 | 2 | - | ND |
| GALNT10 | p.T584N | Missense | SNP | 0.463 | 2 | - | ND |
| GALNT15 | p.A263S | Missense | SNP | 0.503 | 2 | - | ND |
| GALR3 | p.A236T | Missense | SNP | 0.525 | 2 | - | ND |
| GAPVD1 | p.L444I | Missense | SNP | 0.392 | 2 | - | ND |
| GAREM2 | p.E350K | Missense | SNP | 0.478 | 2 | - | ND |
| GAS6 | - | - | - | - | 3 | Gain | ND |
| GCNT2 | p.A325V | Missense | SNP | 0.453 | 2 | - | ND |
| GDF5 | - | - | - | - | 1 | Loss | ND |
| GDF7 | p.A337V | Missense | SNP | 0.522 | 2 | - | ND |
| GDI1 | p.V161I | Missense | SNP | 0.479 | ND | ND | ND |
| GFER | - | - | - | - | 1 | Loss | ND |
| GFRA4 | - | - | - | - | 3 | Gain | ND |
| GGACT | - | - | - | - | 3 | Gain | ND |
| GGT6 | p.E33K | Missense | SNP | 0.576 | 2 | - | ND |
| GGT7 | p.A456V | Missense | SNP | 1.000 | 1 | Loss | ND |
| GGTLC1 | - | - | - | - | 3 | Gain | ND |
| GH2 | p.E217K | Missense | SNP | 0.458 | 2 | - | ND |
| GHR | p.P307Q | Missense | SNP | 0.468 | 2 | - | ND |
| GIMAP2 | . | Splice_Site | SNP | 0.558 | 2 | - | ND |
| GINS1 | - | - | - | - | 3 | Gain | ND |
| GLI1 | p.A985V | Missense | SNP | 0.484 | 2 | - | ND |
| GLIS2 | p.P266T | Missense | SNP | 0.511 | 2 | - | ND |
| GLT8D1 | - | - | - | - | 3 | Gain | ND |
| GLUD2 | p.R519G | Missense | SNP | 0.487 | ND | ND | ND |
| GLUL | p.G251S | Missense | SNP | 0.496 | 2 | - | ND |
| GNAI2 | p.A104T | Missense | SNP | 0.588 | 2 | - | ND |
| GNG13 | - | - | - | - | 1 | Loss | ND |
| GNL3 | - | - | - | - | 3 | Gain | ND |
| GNPAT | p.F273S | Missense | SNP | 0.464 | 2 | - | ND |
| GNPTG | - | - | - | - | 1 | Loss | ND |
| GNRH2 | - | - | - | - | 3 | Gain | ND |
| GOLGA5 | p.H211Q | Missense | SNP | 0.442 | 2 | - | ND |
| GOLGA7B | p.G61R | Missense | SNP | 0.554 | 2 | - | ND |
| GPBAR1 | p.A223T | Missense | SNP | 0.518 | 2 | - | ND |
| GPC5 | - | - | - | - | 3 | Gain | ND |
| GPC6 | - | - | - | - | 3 | Gain | ND |
| GPCPD1 | - | - | - | - | 3 | Gain | ND |
| GPR152 | p.L149F | Missense | SNP | 0.544 | 2 | - | ND |
| GPR18 | - | - | - | - | 3 | Gain | ND |
| GPR180 | - | - | - | - | 3 | Gain | ND |
| GPR183 | p.S332Y | Missense | SNP | 0.326 | 3 | Gain | ND |
| GPR20 | p.G316V | Missense | SNP | 0.457 | 2 | - | ND |
| GPR89A | - | - | - | - | 1 | Loss | ND |
| GRIA3 | p.K160M | Missense | SNP | 0.509 | ND | ND | ND |
| GRID2 | p.R45C p.N52H | Missense Missense | SNP SNP | 0.526 0.479 | 2 | - | ND |
| GRIN1 | p.A755V | Missense | SNP | 0.487 | 2 | - | ND |
| GRIN2A | p.T1164M | Missense | SNP | 0.550 | 2 | - | ND |
| GRK1 | - | - | - | - | 3 | Gain | ND |
| GRK4 | p.E574K | Missense | SNP | 0.414 | 2 | - | ND |
| GRN | p.V500L | Missense | SNP | 0.500 | 2 | - | ND |
| GRTP1 | - | - | - | - | 3 | Gain | ND |
| GSS | - | - | - | - | 1 | Loss | ND |
| GTPBP1 | p.Q235R | Missense | SNP | 0.433 | 2 | - | ND |
| GTPBP2 | p.L284Q | Missense | SNP | 0.548 | 2 | - | ND |
| GTPBP3 | p.R494W | Missense | SNP | 0.461 | 2 | - | ND |
| GZF1 | - | - | - | - | 3 | Gain | ND |
| H2AFJ | p.Q105R | Missense | SNP | 0.449 | 2 | - | ND |
| HABP2 | p.A214V | Missense | SNP | 0.463 | 2 | - | ND |
| HADHB | p.A290V | Missense | SNP | 0.645 | 2 | - | ND |
| HAGH | - | - | - | - | 1 | Loss | ND |
| HAGHL | - | - | - | - | 1 | Loss | ND |
| HAO1 | - | - | - | - | 3 | Gain | ND |
| HAPLN1 | p.Y301C | Missense | SNP | 0.563 | 2 | - | ND |
| HARS2 | p.E431K | Missense | SNP | 0.521 | 2 | - | ND |
| HBA1 | - | - | - | - | 1 | Loss | ND |
| HBA2 | - | - | - | - | 1 | Loss | ND |
| HBEGF | p.P52S | Missense | SNP | 0.502 | 2 | - | ND |
| HBM | - | - | - | - | 1 | Loss | ND |
| HBQ1 | - | - | - | - | 1 | Loss | ND |
| HBZ | - | - | - | - | 1 | Loss | ND |
| HCFC1R1 | - | - | - | - | 1 | Loss | ND |
| HCK | - | - | - | - | 1 | Loss | ND |
| HDAC10 | p.G294S | Missense | SNP | 0.472 | 2 | - | ND |
| HDAC11 | p.R287L | Missense | SNP | 0.484 | 2 | - | ND |
| HDAC4 | p.Q1032* | Nonsense | SNP | 0.513 | 2 | - | ND |
| HDAC5 | p.P664L | Missense | SNP | 0.528 | 2 | - | ND |
| HDAC9 | p.L18P | Missense | SNP | 1.000 | 2 | - | ND |
| HECTD3 | p.R450S | Missense | SNP | 0.514 | 2 | - | ND |
| HECW1 | p.E615A | Missense | SNP | 1.000 | 2 | - | ND |
| HELZ | p.A905T | Missense | SNP | 0.455 | 2 | - | ND |
| HELZ2 | p.P2168H | Missense | SNP | 0.507 | 2 | - | ND |
| HEPACAM2 | p.A84E | Missense | SNP | 0.448 | 2 | - | ND |
| HERC1 | p.P3538L | Missense | SNP | 0.546 | 2 | - | ND |
| HERC2 | p.R2568* | Nonsense | SNP | 0.491 | 2 | - | ND |
| HERC3 | p.S495P | Missense | SNP | 0.505 | 2 | - | ND |
| HEXA | p.G261S | Missense | SNP | 0.557 | 2 | - | ND |
| HHIPL1 | p.C87Y | Missense | SNP | 0.458 | 2 | - | ND |
| HIC2 | p.L80I | Missense | SNP | 0.466 | 2 | - | ND |
| HIP1 | p.R620* p.K527N | Nonsense Missense | SNP SNP | 0.600 0.385 | 2 | - | ND |
| HIPK3 | p.A694T | Missense | SNP | 0.465 | 2 | - | ND |
| HIPK4 | p.R343H | Missense | SNP | 0.537 | 2 | - | ND |
| HIRA | p.K1017R | Missense | SNP | 0.463 | 2 | - | ND |
| HIRIP3 | p.Q225* | Nonsense | SNP | 0.480 | 2 | - | ND |
| HIST1H1D | p.A69T | Missense | SNP | 0.449 | 2 | - | ND |
| HIST2H3PS2 | - | - | - | - | 1 | Loss | ND |
| HIVEP3 | p.A1003V | Missense | SNP | 0.523 | 2 | - | ND |
| HKDC1 | p.D209E | Missense | SNP | 0.534 | 2 | - | ND |
| HM13 | - | - | - | - | 1 | Loss | ND |
| HMCN1 | p.Q4558H | Missense | SNP | 0.375 | 2 | - | ND |
| HOOK2 | p.R279Q | Missense | SNP | 0.493 | 2 | - | ND |
| HPS1 | p.P323H | Missense | SNP | 0.486 | 2 | - | ND |
| HS3ST4 | p.R273C | Missense | SNP | 0.453 | 2 | - | ND |
| HS3ST6 | - | - | - | - | 1 | Loss | ND |
| HS6ST3 | - | - | - | - | 3 | Gain | ND |
| HSD3B2 | p.P312L | Missense | SNP | 0.458 | 2 | - | ND |
| HSF4 | - | - | - | - | 5 | Amp | ND |
| HSPA12B | - | - | - | - | 3 | Gain | ND |
| HSPB7 | p.G69* p.C35S | Nonsense Missense | SNP SNP | 0.503 0.429 | 2 | - | ND |
| HSPG2 | p.A3873V p.C1668F p.P1449Q | Missense Missense Missense | SNP SNP SNP | 0.490 0.496 0.422 | 2 | - | ND |
| IARS | p.P351H | Missense | SNP | 0.474 | 2 | - | ND |
| ID1 | - | - | - | - | 1 | Loss | ND |
| ID4 | p.G21R | Missense | SNP | 0.459 | 2 | - | ND |
| IDH3B | - | - | - | - | 3 | Gain | ND |
| IFT140 | - | - | - | - | 1 | Loss | ND |
| IGDCC4 | p.L183F | Missense | SNP | 0.566 | 2 | - | ND |
| IGFALS | - | - | - | - | 1 | Loss | ND |
| IGLV3-22 | p.E99K | Missense | SNP | 0.515 | ND | ND | ND |
| IL10RA | p.D544Y | Missense | SNP | 0.463 | 2 | - | ND |
| IL17RB | p.Y443N | Missense | SNP | 0.444 | 2 | - | ND |
| IL23A | p.C89Y | Missense | SNP | 0.471 | 2 | - | ND |
| IL32 | - | - | - | - | 1 | Loss | ND |
| IL4I1 | p.A48T | Missense | SNP | 0.536 | 2 | - | ND |
| IL6 | p.A86T | Missense | SNP | 1.000 | 2 | - | ND |
| IMMT | p.A227S | Missense | SNP | 0.369 | 2 | - | ND |
| INA | p.R130Q | Missense | SNP | 0.464 | 2 | - | ND |
| ING1 | - | - | - | - | 3 | Gain | ND |
| INO80 | p.P1072Q | Missense | SNP | 0.481 | 2 | - | ND |
| INSM1 | - | - | - | - | 3 | Gain | ND |
| INTS8 | p.V778M | Missense | SNP | 0.460 | 2 | - | ND |
| INVS | p.G1011V | Missense | SNP | 0.446 | 2 | - | ND |
| IPO4 | p.A552V | Missense | SNP | 0.504 | 2 | - | ND |
| IPO5 | - | - | - | - | 3 | Gain | ND |
| IPO7 | p.R184H | Missense | SNP | 0.492 | 2 | - | ND |
| IRAK1 | p.G53R | Missense | SNP | 0.533 | ND | ND | ND |
| IRF3 | p.A441T | Missense | SNP | 0.436 | 2 | - | ND |
| IRS2 | - | - | - | - | 3 | Gain | ND |
| IRX4 | p.C373Y | Missense | SNP | 0.592 | 2 | - | ND |
| IRX5 | p.S387P | Missense | SNP | 0.594 | 2 | - | ND |
| ISM1 | - | - | - | - | 3 | Gain | ND |
| ITCH | - | - | - | - | 1 | Loss | ND |
| ITGA8 | p.A234V | Missense | SNP | 0.524 | 2 | - | ND |
| ITGA9 | - | - | - | - | 3 | Gain | ND |
| ITGB7 | p.L106P | Missense | SNP | 0.511 | 2 | - | ND |
| ITGBL1 | - | - | - | - | 3 | Gain | ND |
| ITIH5 | p.R487H | Missense | SNP | 0.491 | 2 | - | ND |
| ITPA | - | - | - | - | 3 | Gain | ND |
| ITPKB | p.T576A | Missense | SNP | 0.570 | 2 | - | ND |
| ITPR1 | p.R1057H | Missense | SNP | 0.520 | 2 | - | ND |
| ITPR2 | p.A68T | Missense | SNP | 0.475 | 2 | - | ND |
| ITPRIPL1 | p.P392H | Missense | SNP | 0.455 | 2 | - | ND |
| IVL | - | - | - | - | 1 | Loss | ND |
| IWS1 | p.M355I | Missense | SNP | 0.483 | 2 | - | ND |
| JADE2 | p.R416W | Missense | SNP | 0.508 | 2 | - | ND |
| JAG1 | - | - | - | - | 3 | Gain | ND |
| JAK2 | p.V1042M | Missense | SNP | 0.507 | 2 | - | ND |
| JMJD8 | - | - | - | - | 1 | Loss | ND |
| JPT2 | - | - | - | - | 1 | Loss | ND |
| KALRN | p.Q577* | Nonsense | SNP | 0.513 | 2 | - | ND |
| KANK2 | p.A368V | Missense | SNP | 0.477 | 2 | - | ND |
| KAT14 | - | - | - | - | 3 | Gain | ND |
| KAT8 | p.E20D | Missense | SNP | 0.485 | 2 | - | ND |
| KCNA3 | p.F314I | Missense | SNP | 0.520 | 2 | - | ND |
| KCNC1 | p.M414I | Missense | SNP | 0.533 | 2 | - | ND |
| KCNC3 | p.G252D | Missense | SNP | 0.623 | 2 | - | ND |
| KCND2 | p.R259H p.S350L | Missense Missense | SNP SNP | 0.509 0.449 | 2 | - | ND |
| KCNG1 | p.G277C | Missense | SNP | 0.430 | 2 | - | ND |
| KCNG4 | p.A140T | Missense | SNP | 0.459 | 2 | - | ND |
| KCNH2 | p.A1124G | Missense | SNP | 0.464 | 2 | - | ND |
| KCNH4 | p.K641T | Missense | SNP | 0.435 | 2 | - | ND |
| KCNJ18 | p.R6G | Missense | SNP | 0.466 | 2 | - | ND |
| KCNK3 | p.Y192* | Nonsense | SNP | 0.495 | 2 | - | ND |
| KCNQ2 | p.R210C | Missense | SNP | 0.535 | 2 | - | ND |
| KCP | p.A959V | Missense | SNP | 0.503 | 2 | - | ND |
| KCTD12 | - | - | - | - | 3 | Gain | ND |
| KCTD18 | p.P347T | Missense | SNP | 0.453 | 2 | - | ND |
| KCTD19 | - | - | - | - | 5 | Amp | ND |
| KCTD5 | - | - | - | - | 1 | Loss | ND |
| KDELC1 | - | - | - | - | 3 | Gain | ND |
| KDM2B | p.V569L | Missense | SNP | 0.478 | 2 | - | ND |
| KDM3B | p.N351S p.Q757* | Missense Nonsense | SNP SNP | 0.495 0.493 | 2 | - | ND |
| KDM4B | p.E205D | Missense | SNP | 0.456 | 2 | - | ND |
| KDM5A | p.V176L | Missense | SNP | 0.494 | 2 | - | ND |
| KDM6B | p.G216S | Missense | SNP | 0.492 | 2 | - | ND |
| KHSRP | p.G669S | Missense | SNP | 0.534 | 2 | - | ND |
| KIAA0355 | p.W1020C | Missense | SNP | 0.590 | 2 | - | ND |
| KIAA0895L | - | - | - | - | 5 | Amp | ND |
| KIAA1217 | p.E1542K | Missense | SNP | 0.464 | 2 | - | ND |
| KIAA1549 | p.R1863Q p.Q1726K | Missense Missense | SNP SNP | 0.483 0.554 | ND | ND | ND |
| KIAA2022 | p.V1001I | Missense | SNP | 0.442 | ND | ND | ND |
| KIF15 | p.S21T p.T80S | Missense Missense | SNP SNP | 0.426 0.521 | 2 | - | ND |
| KIF16B | - | - | - | - | 3 | Gain | ND |
| KIF21A | p.G911D | Missense | SNP | 0.369 | 2 | - | ND |
| KIF3B | - | - | - | - | 1 | Loss | ND |
| KIFC1 | p.G127* | Nonsense | SNP | 0.462 | 2 | - | ND |
| KIR2DS4 | p.P183S | Missense | SNP | 0.503 | ND | ND | ND |
| KIZ | - | - | - | - | 3 | Gain | ND |
| KLF1 | p.C286Y | Missense | SNP | 0.507 | 2 | - | ND |
| KLF12 | - | - | - | - | 3 | Gain | ND |
| KLF5 | - | - | - | - | 3 | Gain | ND |
| KLF9 | p.R192H | Missense | SNP | 0.487 | 2 | - | ND |
| KLHL1 | - | - | - | - | 3 | Gain | ND |
| KLHL10 | p.Y599H | Missense | SNP | 0.586 | 2 | - | ND |
| KLHL25 | p.L399M | Missense | SNP | 0.540 | 2 | - | ND |
| KLHL42 | p.R382H | Missense | SNP | 0.494 | 2 | - | ND |
| KLHL9 | p.A541T | Missense | SNP | 0.557 | 2 | - | ND |
| KLRC1 | p.R22* | Nonsense | SNP | 0.472 | 2 | - | ND |
| KMT2C | p.I4674T | Missense | SNP | 0.476 | 2 | - | ND |
| KMT2D | p.E3237K | Missense | SNP | 0.522 | 2 | - | ND |
| KNDC1 | p.V543I p.P1056S | Missense Missense | SNP SNP | 0.538 0.489 | 2 | - | ND |
| KREMEN2 | - | - | - | - | 1 | Loss | ND |
| KRT37 | p.V291M | Missense | SNP | 0.494 | 2 | - | ND |
| KRT71 | p.C93F | Missense | SNP | 0.463 | 2 | - | ND |
| KRT75 | p.L221F | Missense | SNP | 0.449 | 2 | - | ND |
| KRT9 | p.V253M | Missense | SNP | 0.580 | 2 | - | ND |
| KRTAP1-1 | - | - | - | - | 1 | Loss | ND |
| KRTAP1-3 | - | - | - | - | 1 | Loss | ND |
| KRTAP1-5 | - | - | - | - | 1 | Loss | ND |
| KRTAP10-1 | - | - | - | - | 1 | Loss | ND |
| KRTAP10-10 | - | - | - | - | 1 | Loss | ND |
| KRTAP10-11 | - | - | - | - | 1 | Loss | ND |
| KRTAP10-2 | - | - | - | - | 1 | Loss | ND |
| KRTAP10-3 | - | - | - | - | 1 | Loss | ND |
| KRTAP10-4 | - | - | - | - | 1 | Loss | ND |
| KRTAP10-5 | - | - | - | - | 1 | Loss | ND |
| KRTAP10-6 | - | - | - | - | 1 | Loss | ND |
| KRTAP10-7 | - | - | - | - | 1 | Loss | ND |
| KRTAP10-8 | - | - | - | - | 1 | Loss | ND |
| KRTAP10-9 | - | - | - | - | 1 | Loss | ND |
| KRTAP12-4 | - | - | - | - | 1 | Loss | ND |
| KRTAP3-1 | - | - | - | - | 1 | Loss | ND |
| KRTAP3-2 | - | - | - | - | 1 | Loss | ND |
| KRTAP3-3 | - | - | - | - | 1 | Loss | ND |
| KRTAP4-1 | - | - | - | - | 1 | Loss | ND |
| KRTAP4-11 | - | - | - | - | 1 | Loss | ND |
| KRTAP4-12 | - | - | - | - | 1 | Loss | ND |
| KRTAP4-16 | - | - | - | - | 1 | Loss | ND |
| KRTAP4-2 | - | - | - | - | 1 | Loss | ND |
| KRTAP4-3 | - | - | - | - | 1 | Loss | ND |
| KRTAP4-4 | - | - | - | - | 1 | Loss | ND |
| KRTAP4-6 | - | - | - | - | 1 | Loss | ND |
| KRTAP4-7 | - | - | - | - | 1 | Loss | ND |
| KRTAP4-8 | - | - | - | - | 1 | Loss | ND |
| KRTAP4-9 | - | - | - | - | 1 | Loss | ND |
| KRTAP9-1 | - | - | - | - | 1 | Loss | ND |
| KRTAP9-2 | - | - | - | - | 1 | Loss | ND |
| KRTAP9-3 | - | - | - | - | 1 | Loss | ND |
| KRTAP9-4 | - | - | - | - | 1 | Loss | ND |
| KRTAP9-7 | - | - | - | - | 1 | Loss | ND |
| KRTAP9-8 | - | - | - | - | 1 | Loss | ND |
| KRTAP9-9 | - | - | - | - | 1 | Loss | ND |
| KY | p.S250F | Missense | SNP | 0.540 | 2 | - | ND |
| KYAT1 | p.F28L | Missense | SNP | 0.514 | 2 | - | ND |
| LAMA4 | p.A558V | Missense | SNP | 0.474 | 2 | - | ND |
| LAMB2 | p.V362I | Missense | SNP | 0.440 | 2 | - | ND |
| LAMP1 | - | - | - | - | 3 | Gain | ND |
| LAMP5 | - | - | - | - | 3 | Gain | ND |
| LARGE1 | p.R526C | Missense | SNP | 0.433 | 2 | - | ND |
| LARP1B | p.D764Y | Missense | SNP | 0.500 | 2 | - | ND |
| LARP4 | p.V375L | Missense | SNP | 0.442 | 2 | - | ND |
| LARS2 | p.H145N | Missense | SNP | 0.431 | 2 | - | ND |
| LCE1A | - | - | - | - | 1 | Loss | ND |
| LCE1B | - | - | - | - | 1 | Loss | ND |
| LCE1C | - | - | - | - | 1 | Loss | ND |
| LCE1E | - | - | - | - | 1 | Loss | ND |
| LCE1F | - | - | - | - | 1 | Loss | ND |
| LCE6A | - | - | - | - | 1 | Loss | ND |
| LCMT2 | p.T459N | Missense | SNP | 0.497 | 2 | - | ND |
| LCOR | p.S967R | Missense | SNP | 0.515 | 2 | - | ND |
| LCP1 | p.K97N | Missense | SNP | 0.430 | 2 | - | ND |
| LENG8 | p.P543L | Missense | SNP | 0.427 | 2 | - | ND |
| LGI2 | p.T338M | Missense | SNP | 0.497 | 2 | - | ND |
| LGSN | p.G427R | Missense | SNP | 0.453 | 2 | - | ND |
| LHCGR | p.S171Y | Missense | SNP | 0.524 | 2 | - | ND |
| LHX5 | p.V401M | Missense | SNP | 0.532 | 2 | - | ND |
| LIG4 | - | - | - | - | 3 | Gain | ND |
| LILRA5 | p.H208N | Missense | SNP | 0.593 | 2 | - | ND |
| LINGO3 | p.A39T | Missense | SNP | 0.482 | 2 | - | ND |
| LIPE | p.G264* | Nonsense | SNP | 0.405 | 2 | - | ND |
| LITAF | p.S60L | Missense | SNP | 0.485 | 2 | - | ND |
| LMF1 | - | - | - | - | 1 | Loss | ND |
| LMO7 | - | - | - | - | 3 | Gain | ND |
| LOXL1 | p.P312T | Missense | SNP | 0.529 | 2 | - | ND |
| LPAR2 | p.V207G | Missense | SNP | 0.454 | 2 | - | ND |
| LRCH1 | p.P136H | Missense | SNP | 0.440 | 2 | - | ND |
| LRFN1 | p.P401L | Missense | SNP | 0.568 | 2 | - | ND |
| LRFN5 | p.R253H | Missense | SNP | 0.499 | ND | ND | ND |
| LRP1B | p.A2762V | Missense | SNP | 0.507 | 2 | - | ND |
| LRP2 | p.D1293E | Missense | SNP | 0.575 | 2 | - | ND |
| LRP4 | p.R886* | Nonsense | SNP | 0.510 | 2 | - | ND |
| LRRC15 | p.L215F | Missense | SNP | 0.467 | 2 | - | ND |
| LRRC29 | - | - | - | - | 5 | Amp | ND |
| LRRN4 | - | - | - | - | 3 | Gain | ND |
| LRRTM2 | p.S189G | Missense | SNP | 0.474 | 2 | - | ND |
| LRWD1 | p.S253L | Missense | SNP | 0.483 | 2 | - | ND |
| LSAMP | p.R52W | Missense | SNP | 0.445 | 2 | - | ND |
| LSM10 | p.Q25K | Missense | SNP | 0.508 | 2 | - | ND |
| LSM4 | p.G116D | Missense | SNP | 0.498 | 2 | - | ND |
| LTBP2 | p.H1316N | Missense | SNP | 0.500 | 2 | - | ND |
| LUC7L | - | - | - | - | 1 | Loss | ND |
| LZTS3 | - | - | - | - | 3 | Gain | ND |
| MACROD2 | - | - | - | - | 3 | Gain | ND |
| MAGEA6 | p.P262L | Missense | SNP | 0.448 | ND | ND | ND |
| MAGEE1 | p.R11C | Missense | SNP | 0.441 | ND | ND | ND |
| MAMDC4 | p.H590N | Missense | SNP | 0.526 | 2 | - | ND |
| MAP1LC3A | - | - | - | - | 1 | Loss | ND |
| MAP2K5 | p.S133N | Missense | SNP | 0.429 | 2 | - | ND |
| MAP3K4 | p.L1433M | Missense | SNP | 0.540 | 2 | - | ND |
| MAP7D1 | p.E2K | Missense | SNP | 0.391 | 2 | - | ND |
| MAPK8IP3 | - | - | - | - | 1 | Loss | ND |
| MAPRE1 | - | - | - | - | 1 | Loss | ND |
| MATN1 | p.L402I p.V149F | Missense Missense | SNP SNP | 0.491 0.384 | 2 | - | ND |
| MATN4 | p.A564S | Missense | SNP | 0.580 | 2 | - | ND |
| MAVS | - | - | - | - | 3 | Gain | ND |
| MBNL2 | - | - | - | - | 3 | Gain | ND |
| MC5R | p.C131Y | Missense | SNP | 0.474 | 2 | - | ND |
| MCAM | p.L94F | Missense | SNP | 0.527 | 2 | - | ND |
| MCF2L | - | - | - | - | 3 | Gain | ND |
| MCM4 | - | - | - | - | 1 | Loss | ND |
| MCM5 | p.R724C | Missense | SNP | 0.492 | 2 | - | ND |
| MCM8 | - | - | - | - | 3 | Gain | ND |
| MCRIP2 | - | - | - | - | 1 | Loss | ND |
| MCTS2P | - | - | - | - | 1 | Loss | ND |
| MEFV | - | - | - | - | 1 | Loss | ND |
| MEGF10 | p.P256L | Missense | SNP | 0.512 | 2 | - | ND |
| MEIOB | - | - | - | - | 1 | Loss | ND |
| MELK | p.C339Y | Missense | SNP | 0.425 | 2 | - | ND |
| MESP2 | p.D38Y | Missense | SNP | 0.516 | 2 | - | ND |
| METRN | - | - | - | - | 1 | Loss | ND |
| METTL21C | - | - | - | - | 3 | Gain | ND |
| METTL26 | - | - | - | - | 1 | Loss | ND |
| MFF | p.S223F | Missense | SNP | 0.511 | 2 | - | ND |
| MGAT5 | p.H627N | Missense | SNP | 0.535 | 2 | - | ND |
| MGME1 | - | - | - | - | 3 | Gain | ND |
| MICAL1 | p.Q538K | Missense | SNP | 0.516 | 2 | - | ND |
| MICAL3 | p.S1444T p.A826T | Missense Missense | SNP SNP | 0.418 0.505 | 2 | - | ND |
| MICU2 | p.V401A | Missense | SNP | 0.594 | 2 | - | ND |
| MIER3 | p.V418L | Missense | SNP | 0.479 | 2 | - | ND |
| MIPEP | p.R24Q | Missense | SNP | 0.398 | 2 | - | ND |
| MKKS | - | - | - | - | 3 | Gain | ND |
| MLLT6 | p.Q916K p.G918D | Missense Missense | SNP SNP | 0.536 0.521 | 2 | - | ND |
| MLST8 | - | - | - | - | 1 | Loss | ND |
| MMP16 | p.V562M | Missense | SNP | 0.473 | 2 | - | ND |
| MMP24 | - | - | - | - | 1 | Loss | ND |
| MMP25 | - | - | - | - | 1 | Loss | ND |
| MOGS | p.G181R | Missense | SNP | 0.464 | 2 | - | ND |
| MON1B | . | Splice_Site | SNP | 0.467 | 2 | - | ND |
| MORC2 | p.R608H | Missense | SNP | 0.513 | 2 | - | ND |
| MOSPD2 | p.D220G | Missense | SNP | 0.396 | ND | ND | ND |
| MPG | - | - | - | - | 1 | Loss | ND |
| MPP2 | p.R201H | Missense | SNP | 0.450 | 2 | - | ND |
| MPRIP | p.C103* | Nonsense | SNP | 0.433 | 2 | - | ND |
| MRC1 | p.S815N p.I1394S | Missense Missense | SNP SNP | 0.447 0.459 | 2 | - | ND |
| MRPL28 | - | - | - | - | 1 | Loss | ND |
| MRPL32 | p.A15T | Missense | SNP | 1.000 | 2 | - | ND |
| MRPS26 | - | - | - | - | 3 | Gain | ND |
| MRPS34 | - | - | - | - | 1 | Loss | ND |
| MSANTD3 | p.Q209H | Missense | SNP | 0.461 | 2 | - | ND |
| MSH2 | p.A609D | Missense | SNP | 0.456 | 2 | - | ND |
| MSLN | - | - | - | - | 1 | Loss | ND |
| MSLNL | - | - | - | - | 1 | Loss | ND |
| MSRB1 | - | - | - | - | 1 | Loss | ND |
| MTCL1 | p.M1276I | Missense | SNP | 0.438 | 2 | - | ND |
| MTDH | p.P241T | Missense | SNP | 0.414 | 2 | - | ND |
| MTFR1L | p.H88N | Missense | SNP | 0.534 | 2 | - | ND |
| MTMR4 | p.D1069G | Missense | SNP | 0.431 | 2 | - | ND |
| MTTP | p.S822T | Missense | SNP | 0.527 | 2 | - | ND |
| MTUS2 | p.C603Y | Missense | SNP | 0.510 | 2 | - | ND |
| MUC12 | p.Q5326H | Missense | SNP | 0.514 | 2 | - | ND |
| MUC16 | p.T13507R p.P5244Q p.S634Y | Missense Missense Missense | SNP SNP SNP | 0.559 0.422 0.500 | 2 | - | ND |
| MUC5AC | p.K488N | Missense | SNP | 0.493 | 2 | - | ND |
| MUC5B | p.I4778N p.V5146I | Missense Missense | SNP SNP | 0.450 0.494 | 2 | - | ND |
| MX2 | p.G111D | Missense | SNP | 0.511 | 2 | - | ND |
| MYBPC2 | p.V575I | Missense | SNP | 0.494 | 2 | - | ND |
| MYCBP2 | - | - | - | - | 3 | Gain | ND |
| MYH11 | p.T1019M | Missense | SNP | 0.459 | 2 | - | ND |
| MYH7B | - | - | - | - | 1 | Loss | ND |
| MYLK2 | - | - | - | - | 1 | Loss | ND |
| MYO10 | p.D1086Y p.A745V | Missense Missense | SNP SNP | 0.435 0.488 | 2 | - | ND |
| MYO16 | - | - | - | - | 3 | Gain | ND |
| MYO18B | p.K1334N | Missense | SNP | 0.540 | 2 | - | ND |
| MYO1H | p.S468N | Missense | SNP | 0.493 | 2 | - | ND |
| MYO5B | p.A1759V | Missense | SNP | 1.000 | 2 | - | ND |
| MYO9B | p.A1054E p.S2049L | Missense Missense | SNP SNP | 0.495 0.548 | 2 | - | ND |
| MYOD1 | p.S289N | Missense | SNP | 0.552 | 2 | - | ND |
| MYOF | p.P1364H | Missense | SNP | 0.383 | 2 | - | ND |
| MYRF | p.C396Y | Missense | SNP | 0.500 | 2 | - | ND |
| MZF1 | p.R391H | Missense | SNP | 0.549 | 2 | - | ND |
| MZT1 | - | - | - | - | 3 | Gain | ND |
| N4BP1 | p.Q803H | Missense | SNP | 0.500 | 2 | - | ND |
| NAA20 | - | - | - | - | 3 | Gain | ND |
| NAA60 | - | - | - | - | 1 | Loss | ND |
| NALCN | - | - | - | - | 3 | Gain | ND |
| NANP | - | - | - | - | 3 | Gain | ND |
| NAP1L1 | p.A322V | Missense | SNP | 0.637 | 2 | - | ND |
| NAP1L3 | p.V414M | Missense | SNP | 0.540 | ND | ND | ND |
| NAP1L5 | p.M176V | Missense | SNP | 0.445 | 2 | - | ND |
| NAPB | - | - | - | - | 3 | Gain | ND |
| NAT8 | p.A2V | Missense | SNP | 0.419 | 2 | - | ND |
| NAXD | - | - | - | - | 3 | Gain | ND |
| NBEAL2 | p.M568V | Missense | SNP | 0.462 | 2 | - | ND |
| NBPF15 | - | - | - | - | 1 | Loss | ND |
| NBPF20 | - | - | - | - | 1 | Loss | ND |
| NCAM2 | p.D834N | Missense | SNP | 0.374 | 2 | - | ND |
| NCOA6 | - | - | - | - | 1 | Loss | ND |
| NCOR1 | p.D1579N | Missense | SNP | 0.442 | 2 | - | ND |
| NDFIP2 | - | - | - | - | 3 | Gain | ND |
| NDUFA10 | p.A196T | Missense | SNP | 0.444 | 2 | - | ND |
| NDUFAB1 | p.Q49* | Nonsense | SNP | 0.500 | 2 | - | ND |
| NDUFAF5 | - | - | - | - | 3 | Gain | ND |
| NDUFB10 | - | - | - | - | 1 | Loss | ND |
| NEB | p.A1083V | Missense | SNP | 0.640 | 2 | - | ND |
| NECAB3 | - | - | - | - | 1 | Loss | ND |
| NEK3 | - | - | - | - | 3 | Gain | ND |
| NEK4 | - | - | - | - | 3 | Gain | ND |
| NEK5 | p.P682L | Missense | SNP | 0.355 | 3 | Gain | ND |
| NFRKB | p.S353L | Missense | SNP | 0.505 | 2 | - | ND |
| NFS1 | - | - | - | - | 1 | Loss | ND |
| NHLRC4 | - | - | - | - | 1 | Loss | ND |
| NHS | p.A736T p.R1561* | Missense Nonsense | SNP SNP | 0.459 0.490 | ND | ND | ND |
| NINL | - | - | - | - | 3 | Gain | ND |
| NIPBL | p.X1809_splice | Splice_Site | SNP | 0.530 | 2 | - | ND |
| NKX2-1 | p.P307L | Missense | SNP | 0.614 | 2 | - | ND |
| NKX2-2 | - | - | - | - | 3 | Gain | ND |
| NKX2-4 | - | - | - | - | 3 | Gain | ND |
| NKX2-5 | p.Q22P | Missense | SNP | 0.538 | 2 | - | ND |
| NKX3-2 | p.A277T | Missense | SNP | 0.493 | 2 | - | ND |
| NLRC3 | - | - | - | - | 1 | Loss | ND |
| NLRX1 | p.R9K p.G971E | Missense Missense | SNP SNP | 0.600 0.519 | 2 | - | ND |
| NME3 | - | - | - | - | 1 | Loss | ND |
| NME4 | - | - | - | - | 1 | Loss | ND |
| NME6 | p.R116C | Missense | SNP | 0.535 | 2 | - | ND |
| NOBOX | p.R315C | Missense | SNP | 0.446 | 2 | - | ND |
| NOL3 | - | - | - | - | 5 | Amp | ND |
| NOL4L | - | - | - | - | 1 | Loss | ND |
| NOL6 | p.T838I | Missense | SNP | 0.552 | 2 | - | ND |
| NOP56 | - | - | - | - | 3 | Gain | ND |
| NOTCH1 | p.D909N | Missense | SNP | 0.505 | 2 | - | ND |
| NOVA2 | p.A100V | Missense | SNP | 0.484 | 2 | - | ND |
| NOXO1 | - | - | - | - | 1 | Loss | ND |
| NPHP4 | p.V1007M | Missense | SNP | 0.584 | 2 | - | ND |
| NPR1 | p.G537S | Missense | SNP | 0.370 | 2 | - | ND |
| NPRL3 | - | - | - | - | 1 | Loss | ND |
| NPTN | p.N284K | Missense | SNP | 0.433 | 2 | - | ND |
| NPTX1 | p.T71I | Missense | SNP | 0.490 | 2 | - | ND |
| NPW | - | - | - | - | 1 | Loss | ND |
| NR4A1 | p.G512S | Missense | SNP | 0.521 | 2 | - | ND |
| NR4A2 | p.F489L | Missense | SNP | 0.512 | 2 | - | ND |
| NR4A3 | p.P274S | Missense | SNP | 0.484 | 2 | - | ND |
| NR5A2 | p.T25M | Missense | SNP | 0.430 | 2 | - | ND |
| NRROS | p.C9F | Missense | SNP | 0.480 | 2 | - | ND |
| NRSN2 | - | - | - | - | 3 | Gain | ND |
| NRXN1 | p.Q692* | Nonsense | SNP | 0.473 | 2 | - | ND |
| NRXN2 | p.L1347M | Missense | SNP | 0.505 | 2 | - | ND |
| NSD1 | p.K1271N | Missense | SNP | 0.359 | 2 | - | ND |
| NSFL1C | - | - | - | - | 3 | Gain | ND |
| NT5C1B | p.S445T | Missense | SNP | 0.408 | 2 | - | ND |
| NTHL1 | - | - | - | - | 1 | Loss | ND |
| NTN3 | - | - | - | - | 1 | Loss | ND |
| NUBP2 | - | - | - | - | 1 | Loss | ND |
| NUCB2 | p.D93N | Missense | SNP | 0.521 | 2 | - | ND |
| NUP153 | p.V584F p.N109D | Missense Missense | SNP SNP | 0.468 0.533 | 2 | - | ND |
| NUP188 | p.L333P | Missense | SNP | 0.460 | 2 | - | ND |
| NXT1 | - | - | - | - | 3 | Gain | ND |
| NYAP2 | p.T356I | Missense | SNP | 0.504 | 2 | - | ND |
| OBP2A | p.R123H | Missense | SNP | 0.506 | 2 | - | ND |
| OBSCN | p.G5102C p.X5386_splice | Missense Splice_Site | SNP SNP | 0.547 0.437 | 2 | - | ND |
| OBSL1 | p.R1538K | Missense | SNP | 0.431 | 2 | - | ND |
| OCA2 | p.V490A p.T387M | Missense Missense | SNP SNP | 0.549 0.519 | 2 | - | ND |
| OGDHL | p.L833M | Missense | SNP | 0.493 | 2 | - | ND |
| OLFM4 | - | - | - | - | 3 | Gain | ND |
| OPN5 | p.R13C p.K252E | Missense Missense | SNP SNP | 0.312 0.500 | 2 | - | ND |
| OPRL1 | p.R368W | Missense | SNP | 0.566 | 2 | - | ND |
| OR12D3 | p.V200I | Missense | SNP | 0.487 | 2 | - | ND |
| OR13J1 | p.T74M | Missense | SNP | 0.480 | 2 | - | ND |
| OR1F1 | - | - | - | - | 1 | Loss | ND |
| OR2AJ1 | p.A117V | Missense | SNP | 0.562 | 2 | - | ND |
| OR2C1 | - | - | - | - | 1 | Loss | ND |
| OR52E5 | p.A192V | Missense | SNP | 0.493 | 2 | - | ND |
| OR56A5 | p.P272L | Missense | SNP | 0.494 | 2 | - | ND |
| OR5B17 | p.S201L | Missense | SNP | 0.550 | 2 | - | ND |
| OSTM1 | p.T6I | Missense | SNP | 0.635 | 2 | - | ND |
| OTOF | p.T286I | Missense | SNP | 0.469 | 2 | - | ND |
| OTOP3 | p.A7S | Missense | SNP | 0.524 | 2 | - | ND |
| OTOR | - | - | - | - | 3 | Gain | ND |
| OVOL2 | - | - | - | - | 3 | Gain | ND |
| OXGR1 | - | - | - | - | 3 | Gain | ND |
| OXT | - | - | - | - | 3 | Gain | ND |
| P3H1 | p.A166T | Missense | SNP | 0.502 | 2 | - | ND |
| P4HA1 | p.R336C | Missense | SNP | 0.376 | 2 | - | ND |
| PABPC5 | p.G178D | Missense | SNP | 0.498 | ND | ND | ND |
| PABPN1L | p.G44C | Missense | SNP | 0.513 | 2 | - | ND |
| PADI1 | p.D260Y | Missense | SNP | 0.520 | 2 | - | ND |
| PAK5 | - | - | - | - | 3 | Gain | ND |
| PAM | p.Q513K | Missense | SNP | 0.442 | 2 | - | ND |
| PANK2 | - | - | - | - | 3 | Gain | ND |
| PAPPA2 | p.D597N p.G1549S | Missense Missense | SNP SNP | 0.452 0.480 | 2 | - | ND |
| PAQR4 | - | - | - | - | 1 | Loss | ND |
| PARD3 | p.G600S p.L464F | Missense Missense | SNP SNP | 0.519 0.385 | 2 | - | ND |
| PARD6A | p.S205N | Missense | SNP | 0.476 | 2 | - | ND |
| PARP12 | p.S382N | Missense | SNP | 0.481 | ND | ND | ND |
| PAX1 | - | - | - | - | 3 | Gain | ND |
| PAX4 | p.C317Y | Missense | SNP | 0.448 | 2 | - | ND |
| PCCA | - | - | - | - | 3 | Gain | ND |
| PCDH12 | p.T999I | Missense | SNP | 0.500 | 2 | - | ND |
| PCDH17 | p.G177S p.T423M p.A593T p.E746K | Missense Missense Missense Missense | SNP SNP SNP SNP | 0.291 0.299 0.356 0.346 | 5 | Amp | ND |
| PCDH20 | - | - | - | - | 3 | Gain | ND |
| PCDH8 | p.L455M | Missense | SNP | 0.346 | 3 | Gain | ND |
| PCDH9 | - | - | - | - | 5 | Amp | ND |
| PCDHA11 | p.D237N | Missense | SNP | 0.474 | 2 | - | ND |
| PCDHA6 | p.T662M | Missense | SNP | 0.504 | 2 | - | ND |
| PCDHA7 | p.A519T | Missense | SNP | 0.429 | 2 | - | ND |
| PCDHA8 | p.R415H | Missense | SNP | 0.531 | 2 | - | ND |
| PCDHB2 | p.S36P | Missense | SNP | 0.612 | 2 | - | ND |
| PCDHB4 | p.I311N | Missense | SNP | 0.516 | 2 | - | ND |
| PCDHGA10 | p.G16R | Missense | SNP | 0.570 | 2 | - | ND |
| PCDHGA9 | p.S618W | Missense | SNP | 0.539 | 2 | - | ND |
| PCDHGB6 | p.A516V | Missense | SNP | 0.482 | 2 | - | ND |
| PCDHGB7 | p.I319V | Missense | SNP | 0.505 | 2 | - | ND |
| PCED1A | - | - | - | - | 3 | Gain | ND |
| PCED1B | p.R90C | Missense | SNP | 0.526 | 2 | - | ND |
| PCID2 | - | - | - | - | 3 | Gain | ND |
| PCNA | p.L47V | Missense | SNP | 0.298 | 3 | Gain | ND |
| PCNX2 | p.C874F | Missense | SNP | 0.461 | 2 | - | ND |
| PCSK2 | - | - | - | - | 3 | Gain | ND |
| PDCD4 | p.L9P | Missense | SNP | 0.543 | 2 | - | ND |
| PDE3B | p.Q646H | Missense | SNP | 0.385 | 2 | - | ND |
| PDE4D | p.A272T | Missense | SNP | 0.412 | 2 | - | ND |
| PDIA2 | - | - | - | - | 1 | Loss | ND |
| PDPK1 | - | - | - | - | 1 | Loss | ND |
| PDRG1 | - | - | - | - | 1 | Loss | ND |
| PDS5A | p.P946T | Missense | SNP | 0.437 | 2 | - | ND |
| PDS5B | p.A1053S p.S1319T | Missense Missense | SNP SNP | 0.432 0.487 | 2 | - | ND |
| PDX1 | p.R278W | Missense | SNP | 0.523 | 2 | - | ND |
| PDYN | - | - | - | - | 3 | Gain | ND |
| PEBP1 | p.E126K | Missense | SNP | 0.511 | 2 | - | ND |
| PEG3 | p.L700F | Missense | SNP | 0.506 | 2 | - | ND |
| PELI2 | p.A173T | Missense | SNP | 0.587 | 2 | - | ND |
| PENK | p.D225N | Missense | SNP | 0.552 | 2 | - | ND |
| PER1 | p.R846K | Missense | SNP | 0.454 | 2 | - | ND |
| PET117 | p.G22D | Missense | SNP | 0.296 | 3 | Gain | ND |
| PGLYRP2 | p.R319Q | Missense | SNP | 0.558 | 2 | - | ND |
| PGP | - | - | - | - | 1 | Loss | ND |
| PHF20 | - | - | - | - | 1 | Loss | ND |
| PIBF1 | - | - | - | - | 3 | Gain | ND |
| PIEZO2 | p.X1480_splice | Splice_Site | SNP | 1.000 | 2 | - | ND |
| PIGQ | - | - | - | - | 1 | Loss | ND |
| PIGU | - | - | - | - | 1 | Loss | ND |
| PIGZ | p.L550M | Missense | SNP | 1.000 | 2 | - | ND |
| PIK3C3 | p.E876D | Missense | SNP | 0.468 | 2 | - | ND |
| PIK3R6 | p.P161L | Missense | SNP | 0.541 | 2 | - | ND |
| PIM3 | p.R59H | Missense | SNP | 0.531 | 2 | - | ND |
| PITPNM1 | p.D289N | Missense | SNP | 0.523 | 2 | - | ND |
| PITX1 | p.G299C | Missense | SNP | 0.471 | 2 | - | ND |
| PJA1 | p.Q47K | Missense | SNP | 0.526 | ND | ND | ND |
| PKD1 | - | - | - | - | 1 | Loss | ND |
| PKD1L3 | p.E1139* | Nonsense | SNP | 0.522 | 2 | - | ND |
| PKMYT1 | - | - | - | - | 1 | Loss | ND |
| PKN3 | p.G269R | Missense | SNP | 0.490 | 2 | - | ND |
| PLA2G4A | - | - | - | - | 3 | Gain | ND |
| PLA2G4D | p.Q793K | Missense | SNP | 0.526 | 2 | - | ND |
| PLAGL2 | - | - | - | - | 1 | Loss | ND |
| PLB1 | p.V1420F | Missense | SNP | 0.508 | 2 | - | ND |
| PLCB1 | - | - | - | - | 3 | Gain | ND |
| PLCB4 | - | - | - | - | 3 | Gain | ND |
| PLCL1 | p.C740F | Missense | SNP | 0.483 | 2 | - | ND |
| PLCZ1 | p.L219I | Missense | SNP | 0.490 | 2 | - | ND |
| PLEC | - | - | - | - | 3 | Gain | ND |
| PLEKHA6 | p.G211C | Missense | SNP | 0.525 | 2 | - | ND |
| PLEKHG1 | p.R688M | Missense | SNP | 0.476 | 2 | - | ND |
| PLEKHG4 | p.R929* | Nonsense | SNP | 0.726 | 5 | Amp | ND |
| PLPP2 | p.P7T | Missense | SNP | 0.486 | 2 | - | ND |
| PLPPR5 | p.T23M | Missense | SNP | 0.458 | 2 | - | ND |
| PLXNB2 | p.T1726M | Missense | SNP | 0.540 | 2 | - | ND |
| PLXNB3 | p.A886S | Missense | SNP | 0.609 | ND | ND | ND |
| PNMA1 | p.S194F | Missense | SNP | 0.482 | 2 | - | ND |
| POFUT1 | - | - | - | - | 1 | Loss | ND |
| POLA1 | p.V1169A | Missense | SNP | 0.403 | ND | ND | ND |
| POLD1 | p.T473M | Missense | SNP | 0.446 | 2 | - | ND |
| POLG2 | p.K83N | Missense | SNP | 0.494 | 2 | - | ND |
| POLR3F | - | - | - | - | 3 | Gain | ND |
| POLR3K | - | - | - | - | 1 | Loss | ND |
| POM121L12 | - | - | - | - | 3 | Gain | ND |
| POMGNT2 | p.G358W | Missense | SNP | 0.513 | 2 | - | ND |
| POMK | p.Q4H | Missense | SNP | 0.405 | 2 | - | ND |
| POU4F1 | - | - | - | - | 3 | Gain | ND |
| POU5F1B | p.P53Q | Missense | SNP | 0.500 | 2 | - | ND |
| PPM1E | p.H275N | Missense | SNP | 0.439 | 2 | - | ND |
| PPP1R10 | p.P661Q | Missense | SNP | 0.471 | 2 | - | ND |
| PPP1R13L | p.A745T | Missense | SNP | 0.543 | 2 | - | ND |
| PPP1R9A | p.V403M | Missense | SNP | 0.553 | 2 | - | ND |
| PPP2R5B | p.L358P | Missense | SNP | 0.483 | 2 | - | ND |
| PPRC1 | p.P604H | Missense | SNP | 0.466 | 2 | - | ND |
| PRAMEF12 | p.P38Q | Missense | SNP | 0.505 | 2 | - | ND |
| PRCP | p.C364Y | Missense | SNP | 0.507 | 2 | - | ND |
| PRDM12 | p.H323Y | Missense | SNP | 0.557 | 2 | - | ND |
| PRDM13 | p.E174Q | Missense | SNP | 0.422 | 2 | - | ND |
| PRDM15 | p.G381C | Missense | SNP | 0.573 | 2 | - | ND |
| PRDM2 | p.P902S | Missense | SNP | 0.491 | 2 | - | ND |
| PRICKLE2 | p.E721V | Missense | SNP | 0.475 | 2 | - | ND |
| PRKCB | p.G351C | Missense | SNP | 0.485 | 2 | - | ND |
| PRKCH | p.V485I | Missense | SNP | 0.486 | 2 | - | ND |
| PRND | - | - | - | - | 3 | Gain | ND |
| PRNP | - | - | - | - | 3 | Gain | ND |
| PROB1 | p.P697L | Missense | SNP | 0.492 | 2 | - | ND |
| PROCR | - | - | - | - | 1 | Loss | ND |
| PROKR2 | - | - | - | - | 3 | Gain | ND |
| PROM1 | p.A772T p.Q22H | Missense Missense | SNP SNP | 0.526 0.514 | 2 | - | ND |
| PROZ | - | - | - | - | 3 | Gain | ND |
| PRPF6 | p.R503H | Missense | SNP | 0.483 | 2 | - | ND |
| PRR23D1 | - | - | - | - | 1 | Loss | ND |
| PRR23D2 | - | - | - | - | 1 | Loss | ND |
| PRR35 | - | - | - | - | 1 | Loss | ND |
| PRRC2C | p.K1712R | Missense | SNP | 0.558 | 2 | - | ND |
| PRRG3 | p.R19C | Missense | SNP | 0.500 | ND | ND | ND |
| PRRT4 | p.R669H | Missense | SNP | 0.537 | 2 | - | ND |
| PRSS21 | - | - | - | - | 1 | Loss | ND |
| PRSS22 | - | - | - | - | 1 | Loss | ND |
| PRSS27 | - | - | - | - | 1 | Loss | ND |
| PRSS33 | - | - | - | - | 1 | Loss | ND |
| PRSS41 | - | - | - | - | 1 | Loss | ND |
| PRTG | p.E398A | Missense | SNP | 0.392 | 2 | - | ND |
| PSG1 | - | - | - | - | 1 | Loss | ND |
| PSG11 | - | - | - | - | 1 | Loss | ND |
| PSG2 | - | - | - | - | 1 | Loss | ND |
| PSG4 | - | - | - | - | 1 | Loss | ND |
| PSG5 | - | - | - | - | 1 | Loss | ND |
| PSG6 | - | - | - | - | 1 | Loss | ND |
| PSG7 | - | - | - | - | 1 | Loss | ND |
| PSG8 | - | - | - | - | 1 | Loss | ND |
| PSMB8 | p.P20Q | Missense | SNP | 0.526 | 2 | - | ND |
| PSMF1 | - | - | - | - | 3 | Gain | ND |
| PSPC1 | p.R290H | Missense | SNP | 0.511 | 2 | - | ND |
| PSTPIP1 | p.Y287C | Missense | SNP | 0.462 | 2 | - | ND |
| PTK7 | p.G816W | Missense | SNP | 0.393 | 2 | - | ND |
| PTPN13 | p.R1222C | Missense | SNP | 0.463 | 2 | - | ND |
| PTPRA | - | - | - | - | 3 | Gain | ND |
| PTPRCAP | p.R94Q | Missense | SNP | 0.450 | 2 | - | ND |
| PTPRN2 | p.G479V | Missense | SNP | 0.560 | 2 | - | ND |
| PTPRT | p.Y912C | Missense | SNP | 0.460 | 2 | - | ND |
| PTPRU | p.G994D | Missense | SNP | 0.470 | 2 | - | ND |
| PTX4 | - | - | - | - | 1 | Loss | ND |
| PVRIG | p.R217Q | Missense | SNP | 0.426 | 2 | - | ND |
| PWP1 | p.P58H | Missense | SNP | 0.460 | 2 | - | ND |
| PWWP2A | p.G396S | Missense | SNP | 0.484 | 2 | - | ND |
| PXK | p.H340N | Missense | SNP | 0.424 | 2 | - | ND |
| PXMP4 | - | - | - | - | 1 | Loss | ND |
| PYGB | - | - | - | - | 3 | Gain | ND |
| PYGL | p.F327I | Missense | SNP | 0.439 | 2 | - | ND |
| PZP | p.V1354M | Missense | SNP | 0.566 | 2 | - | ND |
| RAB11FIP3 | - | - | - | - | 1 | Loss | ND |
| RAB17 | p.R6K | Missense | SNP | 0.507 | 2 | - | ND |
| RAB20 | - | - | - | - | 3 | Gain | ND |
| RAB26 | - | - | - | - | 1 | Loss | ND |
| RAB36 | p.G46C | Missense | SNP | 0.554 | 2 | - | ND |
| RAB40C | - | - | - | - | 1 | Loss | ND |
| RAB42 | p.G101S | Missense | SNP | 0.532 | 2 | - | ND |
| RAD21L1 | - | - | - | - | 3 | Gain | ND |
| RAD50 | p.E1029G | Missense | SNP | 0.382 | 2 | - | ND |
| RAG1 | p.A824S | Missense | SNP | 0.451 | 2 | - | ND |
| RAI1 | p.S1059F | Missense | SNP | 0.494 | 2 | - | ND |
| RALGAPA2 | - | - | - | - | 3 | Gain | ND |
| RALY | - | - | - | - | 1 | Loss | ND |
| RANBP3 | p.A525V | Missense | SNP | 0.521 | 2 | - | ND |
| RAP2A | - | - | - | - | 3 | Gain | ND |
| RARG | p.D340Y | Missense | SNP | 0.457 | 2 | - | ND |
| RASA3 | - | - | - | - | 3 | Gain | ND |
| RASAL1 | p.C134F | Missense | SNP | 0.434 | 2 | - | ND |
| RASL10B | p.A194V | Missense | SNP | 0.459 | 2 | - | ND |
| RASSF2 | - | - | - | - | 3 | Gain | ND |
| RASSF4 | p.R154H | Missense | SNP | 0.519 | 2 | - | ND |
| RBBP9 | - | - | - | - | 3 | Gain | ND |
| RBCK1 | - | - | - | - | 3 | Gain | ND |
| RBM12 | - | - | - | - | 1 | Loss | ND |
| RBM14 | p.X601_splice | Splice_Site | SNP | 0.479 | 2 | - | ND |
| RBM26 | - | - | - | - | 3 | Gain | ND |
| RBM39 | - | - | - | - | 1 | Loss | ND |
| RCBTB2 | p.M223I | Missense | SNP | 0.526 | 2 | - | ND |
| RDX | p.S243N | Missense | SNP | 0.707 | 2 | - | ND |
| RECQL4 | p.Q277* | Nonsense | SNP | 0.525 | 2 | - | ND |
| REEP2 | p.A130V | Missense | SNP | 0.511 | 2 | - | ND |
| REEP3 | p.R8I | Missense | SNP | 0.557 | 2 | - | ND |
| REM1 | - | - | - | - | 1 | Loss | ND |
| RFC1 | p.N888K | Missense | SNP | 0.390 | 2 | - | ND |
| RFX5 | p.P288H | Missense | SNP | 0.600 | 2 | - | ND |
| RGL2 | p.P220H | Missense | SNP | 0.513 | 2 | - | ND |
| RGPD1 | - | - | - | - | 0 | Del | ND |
| RGPD2 | - | - | - | - | 0 | Del | ND |
| RGS11 | p.S331G | Missense | SNP | 1.000 | 1 | Loss | ND |
| RGS12 | p.P13H | Missense | SNP | 0.430 | 2 | - | ND |
| RGS20 | p.M360I | Missense | SNP | 0.515 | 2 | - | ND |
| RHBDF1 | - | - | - | - | 1 | Loss | ND |
| RHBDL1 | - | - | - | - | 1 | Loss | ND |
| RHOBTB1 | p.A512V | Missense | SNP | 0.497 | 2 | - | ND |
| RHOT2 | - | - | - | - | 1 | Loss | ND |
| RIC1 | p.S634T | Missense | SNP | 0.475 | 2 | - | ND |
| RIMBP2 | p.R341H | Missense | SNP | 0.486 | 2 | - | ND |
| RIMS2 | p.A16T | Missense | SNP | 0.545 | 2 | - | ND |
| RIMS3 | p.R293C | Missense | SNP | 0.378 | 2 | - | ND |
| RIN2 | - | - | - | - | 3 | Gain | ND |
| RLIM | p.G504S | Missense | SNP | 0.514 | ND | ND | ND |
| RNASEL | p.H263Y | Missense | SNP | 0.497 | 2 | - | ND |
| RNF113B | - | - | - | - | 3 | Gain | ND |
| RNF139 | p.H413D | Missense | SNP | 0.490 | 2 | - | ND |
| RNF151 | p.P13L p.R175C | Missense Missense | SNP SNP | 1.000 0.991 | 1 | Loss | ND |
| RNF20 | p.V266I | Missense | SNP | 0.463 | 2 | - | ND |
| RNF219 | - | - | - | - | 3 | Gain | ND |
| RNF24 | - | - | - | - | 3 | Gain | ND |
| RNF26 | p.C383Y | Missense | SNP | 0.475 | 2 | - | ND |
| RNF40 | p.A337S | Missense | SNP | 0.424 | 2 | - | ND |
| RNPS1 | - | - | - | - | 1 | Loss | ND |
| ROMO1 | - | - | - | - | 1 | Loss | ND |
| ROR1 | p.P809S | Missense | SNP | 0.454 | 2 | - | ND |
| RP11-350O14.18 | p.Q33R | Missense | SNP | 0.526 | ND | ND | ND |
| RPGRIP1 | p.V1211L | Missense | SNP | 0.475 | 2 | - | ND |
| RPL24 | p.X2_splice | Splice_Site | SNP | 0.446 | 2 | - | ND |
| RPL3L | - | - | - | - | 1 | Loss | ND |
| RPS2 | - | - | - | - | 1 | Loss | ND |
| RPS6KA1 | p.R735L | Missense | SNP | 0.418 | 2 | - | ND |
| RPS6KC1 | p.G244R | Missense | SNP | 0.424 | 2 | - | ND |
| RPUSD1 | - | - | - | - | 1 | Loss | ND |
| RRBP1 | - | - | - | - | 3 | Gain | ND |
| RRM1 | p.E586D | Missense | SNP | 0.349 | 2 | - | ND |
| RRP12 | p.A873T | Missense | SNP | 0.529 | 2 | - | ND |
| RSPO4 | - | - | - | - | 3 | Gain | ND |
| RYR2 | p.R1086Q p.D4112N | Missense Missense | SNP SNP | 0.462 0.480 | 2 | - | ND |
| RYR3 | p.A1567E | Missense | SNP | 0.505 | 2 | - | ND |
| SACS | p.G2041D | Missense | SNP | 0.460 | 2 | - | ND |
| SAE1 | p.E97* | Nonsense | SNP | 0.620 | 2 | - | ND |
| SAFB | p.G104R | Missense | SNP | 0.416 | 2 | - | ND |
| SALL2 | p.Q206K p.S20G | Missense Missense | SNP SNP | 0.477 0.497 | 2 | - | ND |
| SAMD9L | p.P165Q | Missense | SNP | 0.415 | 2 | - | ND |
| SARS2 | p.L376F | Missense | SNP | 0.429 | 2 | - | ND |
| SATB2 | p.R46K | Missense | SNP | 0.625 | 2 | - | ND |
| SC5D | p.A83E | Missense | SNP | 0.438 | 2 | - | ND |
| SCAND1 | - | - | - | - | 1 | Loss | ND |
| SCEL | - | - | - | - | 3 | Gain | ND |
| SCG5 | p.R181T | Missense | SNP | 0.444 | 2 | - | ND |
| SCGB2A2 | p.A110D | Missense | SNP | 0.444 | 2 | - | ND |
| SCGN | p.X211_splice | Splice_Site | SNP | 0.477 | 2 | - | ND |
| SCN10A | p.F1567S | Missense | SNP | 0.507 | 2 | - | ND |
| SCN4A | p.C1209F | Missense | SNP | 0.511 | 2 | - | ND |
| SCN8A | p.T1938I | Missense | SNP | 0.467 | 2 | - | ND |
| SCN9A | p.Q1896K | Missense | SNP | 0.369 | 2 | - | ND |
| SCP2D1 | - | - | - | - | 3 | Gain | ND |
| SCRT2 | - | - | - | - | 3 | Gain | ND |
| SCUBE1 | p.D74E | Missense | SNP | 0.481 | 2 | - | ND |
| SDCBP2 | - | - | - | - | 3 | Gain | ND |
| SEC16B | p.G488D | Missense | SNP | 0.471 | 2 | - | ND |
| SEC23B | - | - | - | - | 3 | Gain | ND |
| SEL1L | p.Y493C | Missense | SNP | 0.464 | 2 | - | ND |
| SEL1L2 | - | - | - | - | 3 | Gain | ND |
| SEL1L3 | p.P241H | Missense | SNP | 0.500 | 2 | - | ND |
| SEMA3B | p.H368Y | Missense | SNP | 0.484 | 2 | - | ND |
| SEMA3C | p.R684M | Missense | SNP | 0.396 | 2 | - | ND |
| SEMA3E | p.C602F | Missense | SNP | 0.499 | 2 | - | ND |
| SEMA6B | p.X330_splice | Splice_Site | SNP | 0.464 | 2 | - | ND |
| SEMA7A | p.N595I | Missense | SNP | 0.494 | 2 | - | ND |
| SEPT3 | p.R280Q | Missense | SNP | 0.530 | 2 | - | ND |
| SERINC2 | p.C35Y | Missense | SNP | 0.425 | 2 | - | ND |
| SERINC5 | p.A278T | Missense | SNP | 0.452 | 2 | - | ND |
| SERPINA1 | p.A86T | Missense | SNP | 0.434 | 2 | - | ND |
| SERPINA12 | p.V308A | Missense | SNP | 0.404 | 2 | - | ND |
| SETD1B | p.R902W | Missense | SNP | 0.513 | 2 | - | ND |
| SFMBT2 | p.R691W | Missense | SNP | 0.434 | 2 | - | ND |
| SFPQ | p.D517N | Missense | SNP | 0.429 | 2 | - | ND |
| SFSWAP | p.S282G | Missense | SNP | 0.520 | 2 | - | ND |
| SGK1 | p.C68* | Nonsense | SNP | 0.445 | 2 | - | ND |
| SGK494 | p.W195* | Nonsense | SNP | 0.483 | 2 | - | ND |
| SH3BP2 | p.Y568H | Missense | SNP | 0.409 | 2 | - | ND |
| SH3GL2 | p.K12E | Missense | SNP | 0.473 | 2 | - | ND |
| SHANK3 | p.R1598W | Missense | SNP | 0.439 | 2 | - | ND |
| SHISA3 | p.L10I | Missense | SNP | 0.527 | 2 | - | ND |
| SHLD1 | - | - | - | - | 3 | Gain | ND |
| SIAE | p.G185S | Missense | SNP | 0.527 | 2 | - | ND |
| SIGLEC1 | - | - | - | - | 3 | Gain | ND |
| SIGLEC11 | p.A571V | Missense | SNP | 0.494 | 2 | - | ND |
| SIGLEC14 | p.K291N | Missense | SNP | 0.374 | 2 | - | ND |
| SIM2 | p.H655Y | Missense | SNP | 0.455 | 2 | - | ND |
| SIRPA | - | - | - | - | 3 | Gain | ND |
| SIRPB1 | - | - | - | - | 3 | Gain | ND |
| SIRPB2 | - | - | - | - | 3 | Gain | ND |
| SIRPD | - | - | - | - | 3 | Gain | ND |
| SIRPG | - | - | - | - | 3 | Gain | ND |
| SIX5 | p.E45A | Missense | SNP | 0.368 | 2 | - | ND |
| SKOR2 | p.R459G | Missense | SNP | 0.481 | 2 | - | ND |
| SLAIN1 | - | - | - | - | 3 | Gain | ND |
| SLAMF8 | p.R51* | Nonsense | SNP | 0.514 | 2 | - | ND |
| SLC10A2 | - | - | - | - | 3 | Gain | ND |
| SLC10A7 | p.L92P | Missense | SNP | 0.488 | 2 | - | ND |
| SLC11A2 | p.A348T | Missense | SNP | 0.425 | 2 | - | ND |
| SLC15A1 | - | - | - | - | 3 | Gain | ND |
| SLC18B1 | p.T165R | Missense | SNP | 0.476 | 2 | - | ND |
| SLC1A1 | p.R93C | Missense | SNP | 0.483 | 2 | - | ND |
| SLC1A4 | p.P270H | Missense | SNP | 0.434 | 2 | - | ND |
| SLC22A25 | p.X429_splice | Splice_Site | SNP | 0.576 | 2 | - | ND |
| SLC23A2 | - | - | - | - | 3 | Gain | ND |
| SLC24A3 | - | - | - | - | 3 | Gain | ND |
| SLC26A4 | p.T99M | Missense | SNP | 0.440 | 2 | - | ND |
| SLC27A6 | p.L448M | Missense | SNP | 0.576 | 2 | - | ND |
| SLC29A2 | p.H379N | Missense | SNP | 0.467 | 2 | - | ND |
| SLC29A3 | p.R299H | Missense | SNP | 0.538 | 2 | - | ND |
| SLC35A1 | p.A108T | Missense | SNP | 0.467 | 2 | - | ND |
| SLC38A7 | p.R365W | Missense | SNP | 0.564 | 2 | - | ND |
| SLC43A3 | p.G243C | Missense | SNP | 0.432 | 2 | - | ND |
| SLC4A11 | - | - | - | - | 3 | Gain | ND |
| SLC4A3 | p.S453I | Missense | SNP | 0.519 | 2 | - | ND |
| SLC52A3 | - | - | - | - | 3 | Gain | ND |
| SLC9A3R2 | - | - | - | - | 1 | Loss | ND |
| SLC9A5 | - | - | - | - | 5 | Amp | ND |
| SLIT1 | p.G1156S | Missense | SNP | 0.482 | 2 | - | ND |
| SLIT2 | p.I527N | Missense | SNP | 0.486 | 2 | - | ND |
| SLITRK1 | - | - | - | - | 3 | Gain | ND |
| SLITRK2 | p.T494M | Missense | SNP | 0.540 | ND | ND | ND |
| SLITRK5 | - | - | - | - | 3 | Gain | ND |
| SLITRK6 | - | - | - | - | 3 | Gain | ND |
| SLX4 | - | - | - | - | 1 | Loss | ND |
| SLX4IP | - | - | - | - | 3 | Gain | ND |
| SMCP | - | - | - | - | 1 | Loss | ND |
| SMIM26 | - | - | - | - | 3 | Gain | ND |
| SMOX | - | - | - | - | 3 | Gain | ND |
| SNAP25 | - | - | - | - | 3 | Gain | ND |
| SNPH | - | - | - | - | 3 | Gain | ND |
| SNRNP200 | p.W1275L | Missense | SNP | 0.625 | 2 | - | ND |
| SNRNP25 | - | - | - | - | 1 | Loss | ND |
| SNRPB | - | - | - | - | 3 | Gain | ND |
| SNRPB2 | - | - | - | - | 3 | Gain | ND |
| SNTA1 | - | - | - | - | 1 | Loss | ND |
| SNTG1 | p.S47C | Missense | SNP | 0.554 | 2 | - | ND |
| SNX5 | - | - | - | - | 3 | Gain | ND |
| SOBP | p.N423K | Missense | SNP | 0.505 | 2 | - | ND |
| SOGA3 | p.R435C | Missense | SNP | 0.438 | 2 | - | ND |
| SORL1 | p.X508_splice | Splice_Site | SNP | 0.396 | 2 | - | ND |
| SOX1 | - | - | - | - | 3 | Gain | ND |
| SOX12 | - | - | - | - | 3 | Gain | ND |
| SOX21 | - | - | - | - | 3 | Gain | ND |
| SOX8 | - | - | - | - | 1 | Loss | ND |
| SP1 | p.T503K | Missense | SNP | 0.486 | 2 | - | ND |
| SP5 | p.A183P | Missense | SNP | 0.447 | 2 | - | ND |
| SP6 | p.R211H | Missense | SNP | 0.520 | 2 | - | ND |
| SPACA7 | - | - | - | - | 3 | Gain | ND |
| SPAG11A | - | - | - | - | 1 | Loss | ND |
| SPAG11B | - | - | - | - | 1 | Loss | ND |
| SPAG4 | - | - | - | - | 1 | Loss | ND |
| SPAG9 | p.N575T | Missense | SNP | 0.410 | 2 | - | ND |
| SPATA13 | p.P25T | Missense | SNP | 0.477 | 2 | - | ND |
| SPATA31E1 | p.C641F p.L790F | Missense Missense | SNP SNP | 0.390 0.570 | 2 | - | ND |
| SPATA9 | p.R119K | Missense | SNP | 0.381 | 2 | - | ND |
| SPATC1 | p.V473I | Missense | SNP | 0.490 | 2 | - | ND |
| SPCS1 | - | - | - | - | 3 | Gain | ND |
| SPEF1 | - | - | - | - | 3 | Gain | ND |
| SPERT | p.L175P | Missense | SNP | 0.446 | 2 | - | ND |
| SPG11 | p.C2224Y | Missense | SNP | 0.424 | 2 | - | ND |
| SPINK5 | p.X95_splice | Splice_Site | SNP | 0.452 | 2 | - | ND |
| SPNS1 | p.A291P | Missense | SNP | 0.561 | 2 | - | ND |
| SPP2 | p.M10T | Missense | SNP | 0.538 | 2 | - | ND |
| SPPL2B | p.T542I | Missense | SNP | 0.439 | 2 | - | ND |
| SPPL2C | p.A235E | Missense | SNP | 0.458 | 2 | - | ND |
| SPRR1A | - | - | - | - | 1 | Loss | ND |
| SPRR1B | - | - | - | - | 1 | Loss | ND |
| SPRR3 | - | - | - | - | 1 | Loss | ND |
| SPRR4 | - | - | - | - | 1 | Loss | ND |
| SPRY2 | - | - | - | - | 3 | Gain | ND |
| SPRYD7 | p.R156* | Nonsense | SNP | 0.490 | 2 | - | ND |
| SPSB3 | - | - | - | - | 1 | Loss | ND |
| SPTA1 | p.P2115L | Missense | SNP | 0.380 | 2 | - | ND |
| SPTAN1 | p.E112K | Missense | SNP | 0.438 | 2 | - | ND |
| SPTB | p.V445L | Missense | SNP | 0.486 | 2 | - | ND |
| SPTBN5 | p.L3107I p.A245T | Missense Missense | SNP SNP | 0.531 0.493 | 2 | - | ND |
| SPTLC3 | - | - | - | - | 3 | Gain | ND |
| SRGAP2B | - | - | - | - | 1 | Loss | ND |
| SRP72 | p.A650T | Missense | SNP | 0.551 | 2 | - | ND |
| SRRM2 | p.T1472M | Missense | SNP | 1.000 | 1 | Loss | ND |
| SRXN1 | - | - | - | - | 3 | Gain | ND |
| SSC5D | p.R946K | Missense | SNP | 0.512 | 2 | - | ND |
| SSR2 | p.X85_splice | Splice_Site | SNP | 0.395 | 2 | - | ND |
| SSTR4 | - | - | - | - | 3 | Gain | ND |
| SSTR5 | - | - | - | - | 1 | Loss | ND |
| ST6GALNAC4 | p.D39N | Missense | SNP | 0.565 | 2 | - | ND |
| STAMBP | p.E314* | Nonsense | SNP | 0.431 | 2 | - | ND |
| STARD13 | p.G429D | Missense | SNP | 0.437 | 2 | - | ND |
| STARD9 | p.S1600F | Missense | SNP | 0.529 | 2 | - | ND |
| STAT2 | p.E730K | Missense | SNP | 0.466 | 2 | - | ND |
| STAT5A | p.Y682H | Missense | SNP | 0.432 | 2 | - | ND |
| STC1 | p.A110T | Missense | SNP | 0.497 | 2 | - | ND |
| STK24 | - | - | - | - | 3 | Gain | ND |
| STK35 | - | - | - | - | 3 | Gain | ND |
| STMND1 | p.K242T | Missense | SNP | 0.579 | 2 | - | ND |
| STPG2 | p.A405T | Missense | SNP | 0.472 | 2 | - | ND |
| STRADA | p.R194M | Missense | SNP | 0.492 | 2 | - | ND |
| STRADB | p.R41H | Missense | SNP | 0.485 | 2 | - | ND |
| STRN | p.P380H | Missense | SNP | 0.486 | 2 | - | ND |
| STUB1 | - | - | - | - | 1 | Loss | ND |
| STYX | p.I32F | Missense | SNP | 0.495 | 2 | - | ND |
| SUGT1 | - | - | - | - | 3 | Gain | ND |
| SUN5 | - | - | - | - | 1 | Loss | ND |
| SUPT16H | p.V425A | Missense | SNP | 0.518 | 2 | - | ND |
| SUPT20H | p.Q730H | Missense | SNP | 0.453 | 2 | - | ND |
| SUSD6 | p.L146P | Missense | SNP | 0.449 | 2 | - | ND |
| SYN3 | p.L59F | Missense | SNP | 0.416 | 2 | - | ND |
| SYNDIG1 | - | - | - | - | 3 | Gain | ND |
| SYNE1 | p.Q7399R p.G531E | Missense Missense | SNP SNP | 0.492 0.439 | 2 | - | ND |
| SYNE2 | p.P3923H | Missense | SNP | 0.438 | 2 | - | ND |
| SYNGR3 | - | - | - | - | 1 | Loss | ND |
| SYNJ1 | p.V1386I | Missense | SNP | 0.514 | 2 | - | ND |
| SYNJ2 | p.R1090H | Missense | SNP | 0.512 | 2 | - | ND |
| SYNPO | p.S41N | Missense | SNP | 0.495 | 2 | - | ND |
| SYT1 | p.K214N | Missense | SNP | 0.459 | 2 | - | ND |
| SYT17 | p.P363Q | Missense | SNP | 0.544 | 2 | - | ND |
| SZT2 | p.G422R | Missense | SNP | 0.459 | 2 | - | ND |
| TAF2 | p.V816A | Missense | SNP | 0.539 | 2 | - | ND |
| TANC2 | p.L1146F | Missense | SNP | 0.376 | 2 | - | ND |
| TANGO6 | p.A6T | Missense | SNP | 0.522 | 2 | - | ND |
| TAOK1 | p.R971W | Missense | SNP | 0.473 | 2 | - | ND |
| TAOK2 | p.R936K | Missense | SNP | 0.538 | 2 | - | ND |
| TAPBP | p.L124P | Missense | SNP | 0.535 | 2 | - | ND |
| TASP1 | - | - | - | - | 3 | Gain | ND |
| TAZ | p.K135T | Missense | SNP | 0.495 | ND | ND | ND |
| TBC1D20 | - | - | - | - | 3 | Gain | ND |
| TBC1D22A | p.D376N | Missense | SNP | 0.517 | 2 | - | ND |
| TBC1D24 | - | - | - | - | 1 | Loss | ND |
| TBC1D31 | p.Q63* | Nonsense | SNP | 0.515 | 2 | - | ND |
| TBC1D4 | p.S5R | Missense | SNP | 0.406 | 3 | Gain | ND |
| TBCD | p.A146T | Missense | SNP | 0.474 | 2 | - | ND |
| TBCK | p.V537M | Missense | SNP | 0.477 | 2 | - | ND |
| TBL3 | - | - | - | - | 1 | Loss | ND |
| TBX10 | p.L9F | Missense | SNP | 0.461 | 2 | - | ND |
| TBX18 | p.M606K | Missense | SNP | 0.379 | 2 | - | ND |
| TBX6 | p.H352Y | Missense | SNP | 0.474 | 2 | - | ND |
| TCF15 | - | - | - | - | 3 | Gain | ND |
| TCF4 | p.Q508* | Nonsense | SNP | 0.588 | 2 | - | ND |
| TDRD3 | - | - | - | - | 3 | Gain | ND |
| TEDC2 | - | - | - | - | 1 | Loss | ND |
| TELO2 | - | - | - | - | 1 | Loss | ND |
| TENM3 | p.R22C | Missense | SNP | 0.452 | 2 | - | ND |
| TESK2 | p.P548Q | Missense | SNP | 0.500 | 2 | - | ND |
| TESMIN | p.E2* | Nonsense | SNP | 0.500 | 2 | - | ND |
| TEX14 | p.I154N | Missense | SNP | 0.487 | 2 | - | ND |
| TEX29 | - | - | - | - | 3 | Gain | ND |
| TEX30 | - | - | - | - | 3 | Gain | ND |
| TEX38 | p.L8V | Missense | SNP | 0.588 | 2 | - | ND |
| TFDP1 | - | - | - | - | 3 | Gain | ND |
| TGDS | - | - | - | - | 3 | Gain | ND |
| TGFBR2 | p.R553H | Missense | SNP | 0.562 | 2 | - | ND |
| TGM3 | - | - | - | - | 3 | Gain | ND |
| TGM6 | - | - | - | - | 3 | Gain | ND |
| THBD | - | - | - | - | 3 | Gain | ND |
| THG1L | p.T115N | Missense | SNP | 0.434 | 2 | - | ND |
| THOC6 | - | - | - | - | 1 | Loss | ND |
| THSD1 | - | - | - | - | 3 | Gain | ND |
| TIAM1 | p.G484E | Missense | SNP | 0.463 | 2 | - | ND |
| TIGD7 | - | - | - | - | 1 | Loss | ND |
| TINAG | p.C284Y | Missense | SNP | 0.508 | 2 | - | ND |
| TINF2 | p.A77T | Missense | SNP | 0.481 | 2 | - | ND |
| TJP1 | p.R201Q | Missense | SNP | 0.593 | 2 | - | ND |
| TKTL2 | p.R475Q | Missense | SNP | 0.466 | 2 | - | ND |
| TLCD1 | p.P236T | Missense | SNP | 0.531 | 2 | - | ND |
| TLDC1 | p.R7H | Missense | SNP | 0.580 | 2 | - | ND |
| TLR4 | - | - | - | - | 1 | Loss | ND |
| TLR6 | p.S436P | Missense | SNP | 0.527 | 2 | - | ND |
| TM4SF18 | p.R4G | Missense | SNP | 0.421 | 2 | - | ND |
| TM9SF2 | - | - | - | - | 3 | Gain | ND |
| TM9SF3 | p.L89S | Missense | SNP | 0.468 | 2 | - | ND |
| TM9SF4 | - | - | - | - | 1 | Loss | ND |
| TMC2 | - | - | - | - | 3 | Gain | ND |
| TMCO3 | - | - | - | - | 3 | Gain | ND |
| TMEM116 | p.A56T | Missense | SNP | 0.448 | 2 | - | ND |
| TMEM132B | p.G839C | Missense | SNP | 0.481 | 2 | - | ND |
| TMEM134 | p.I156T | Missense | SNP | 0.457 | 2 | - | ND |
| TMEM136 | p.C46Y | Missense | SNP | 0.446 | 2 | - | ND |
| TMEM178A | p.P72L | Missense | SNP | 0.485 | 2 | - | ND |
| TMEM200C | p.P490L p.R364H | Missense Missense | SNP SNP | 0.617 1.000 | 2 | - | ND |
| TMEM204 | - | - | - | - | 1 | Loss | ND |
| TMEM208 | - | - | - | - | 5 | Amp | ND |
| TMEM230 | - | - | - | - | 3 | Gain | ND |
| TMEM236 | p.R180K | Missense | SNP | 0.496 | 2 | - | ND |
| TMEM239 | - | - | - | - | 3 | Gain | ND |
| TMEM255B | - | - | - | - | 3 | Gain | ND |
| TMEM47 | p.A167V | Missense | SNP | 0.421 | ND | ND | ND |
| TMEM52 | p.R128W | Missense | SNP | 0.462 | 2 | - | ND |
| TMEM59L | p.L12P | Missense | SNP | 0.469 | 2 | - | ND |
| TMEM74B | - | - | - | - | 3 | Gain | ND |
| TMEM8A | - | - | - | - | 1 | Loss | ND |
| TMPRSS11F | p.G187* | Nonsense | SNP | 0.495 | 2 | - | ND |
| TMTC4 | p.Q390R | Missense | SNP | 0.231 | 3 | Gain | ND |
| TMX4 | - | - | - | - | 3 | Gain | ND |
| TNC | p.R2033C p.E365A | Missense Missense | SNP SNP | 0.460 0.460 | 2 | - | ND |
| TNFRSF12A | - | - | - | - | 1 | Loss | ND |
| TNFRSF9 | p.A10T | Missense | SNP | 0.457 | 2 | - | ND |
| TNFSF13B | - | - | - | - | 3 | Gain | ND |
| TNK2 | p.R129K | Missense | SNP | 0.509 | 2 | - | ND |
| TNR | p.I51V | Missense | SNP | 0.507 | 2 | - | ND |
| TNS4 | p.A525V | Missense | SNP | 0.472 | 2 | - | ND |
| TNXB | p.G641V | Missense | SNP | 0.503 | 2 | - | ND |
| TOP1 | p.E272G | Missense | SNP | 0.469 | 2 | - | ND |
| TOR2A | p.D247G | Missense | SNP | 0.507 | 2 | - | ND |
| TP53I11 | p.T123M | Missense | SNP | 0.421 | 2 | - | ND |
| TP53INP2 | - | - | - | - | 1 | Loss | ND |
| TP63 | p.M307I | Missense | SNP | 1.000 | 2 | - | ND |
| TPBGL | p.P129L | Missense | SNP | 0.464 | 2 | - | ND |
| TPP2 | - | - | - | - | 3 | Gain | ND |
| TPR | p.R724C | Missense | SNP | 0.414 | 2 | - | ND |
| TPSAB1 | - | - | - | - | 1 | Loss | ND |
| TPSB2 | - | - | - | - | 1 | Loss | ND |
| TPSD1 | - | - | - | - | 1 | Loss | ND |
| TPSG1 | - | - | - | - | 1 | Loss | ND |
| TPX2 | - | - | - | - | 1 | Loss | ND |
| TRABD2B | p.E401D | Missense | SNP | 0.421 | 2 | - | ND |
| TRADD | p.D306V | Missense | SNP | 0.201 | 5 | Amp | ND |
| TRAF2 | p.F56L | Missense | SNP | 0.422 | 2 | - | ND |
| TRAF7 | - | - | - | - | 1 | Loss | ND |
| TRAK2 | p.A603V | Missense | SNP | 0.480 | 2 | - | ND |
| TRAP1 | - | - | - | - | 1 | Loss | ND |
| TRAPPC2B | p.S4G | Missense | SNP | 0.500 | 2 | - | ND |
| TREM1 | p.D127N | Missense | SNP | 0.548 | 2 | - | ND |
| TRIB3 | - | - | - | - | 3 | Gain | ND |
| TRIM10 | p.L174F | Missense | SNP | 0.477 | 2 | - | ND |
| TRIM32 | p.G383V | Missense | SNP | 0.472 | 1 | Loss | ND |
| TRIM33 | p.C233Y | Missense | SNP | 0.529 | 2 | - | ND |
| TRIM38 | p.R164Q | Missense | SNP | 0.502 | 2 | - | ND |
| TRIM42 | p.G552C p.W709L | Missense Missense | SNP SNP | 0.472 0.497 | 2 | - | ND |
| TRIP12 | p.S1039N | Missense | SNP | 0.487 | 2 | - | ND |
| TRMT10C | p.S273P | Missense | SNP | 0.481 | 2 | - | ND |
| TRMT6 | p.R395G | Missense | SNP | 0.296 | 3 | Gain | ND |
| TRMT61B | p.P344L | Missense | SNP | 0.469 | 2 | - | ND |
| TRPC4AP | - | - | - | - | 1 | Loss | ND |
| TRPM1 | p.L440M | Missense | SNP | 0.500 | 2 | - | ND |
| TSC2 | - | - | - | - | 1 | Loss | ND |
| TSFM | p.V168L | Missense | SNP | 0.523 | 2 | - | ND |
| TSR3 | - | - | - | - | 1 | Loss | ND |
| TTC21B | p.M588V | Missense | SNP | 0.625 | 2 | - | ND |
| TTC24 | p.X347_splice | Splice_Site | SNP | 0.487 | 2 | - | ND |
| TTC28 | p.R2474T p.G2049C p.S1279N | Missense Missense Missense | SNP SNP SNP | 0.555 0.495 0.598 | 2 | - | ND |
| TTC34 | p.R407K | Missense | SNP | 0.527 | 2 | - | ND |
| TTC39A | p.T477M | Missense | SNP | 0.505 | 2 | - | ND |
| TTC6 | p.A195T | Missense | SNP | 0.510 | 2 | - | ND |
| TTLL11 | p.V496F | Missense | SNP | 0.448 | 2 | - | ND |
| TTLL9 | - | - | - | - | 1 | Loss | ND |
| TTN | p.P24604L p.D19698Y p.H8370Y | Missense Missense Missense | SNP SNP SNP | 0.259 0.485 0.508 | 2 | - | ND |
| TUBGCP2 | p.P918A | Missense | SNP | 0.442 | 2 | - | ND |
| TUBGCP3 | - | - | - | - | 3 | Gain | ND |
| TULP4 | p.Q1273* | Nonsense | SNP | 0.472 | 2 | - | ND |
| TYK2 | p.V1048M | Missense | SNP | 0.451 | 2 | - | ND |
| UBAC2 | - | - | - | - | 3 | Gain | ND |
| UBE2I | - | - | - | - | 1 | Loss | ND |
| UBE2V2 | - | - | - | - | 1 | Loss | ND |
| UBE3C | p.G6S p.P674S | Missense Missense | SNP SNP | 0.416 0.435 | 2 | - | ND |
| UBOX5 | - | - | - | - | 3 | Gain | ND |
| UBR3 | p.L586F | Missense | SNP | 0.503 | 2 | - | ND |
| UBR4 | p.G2929* | Nonsense | SNP | 0.419 | 2 | - | ND |
| UCHL3 | - | - | - | - | 3 | Gain | ND |
| UCK1 | p.S11N | Missense | SNP | 0.556 | 2 | - | ND |
| UGGT2 | - | - | - | - | 3 | Gain | ND |
| UHRF1BP1L | p.G1208V | Missense | SNP | 0.455 | 2 | - | ND |
| UNKL | - | - | - | - | 1 | Loss | ND |
| UPF3A | - | - | - | - | 3 | Gain | ND |
| UQCC1 | - | - | - | - | 1 | Loss | ND |
| USB1 | p.H149N | Missense | SNP | 0.567 | 2 | - | ND |
| USH2A | p.Q4402K | Missense | SNP | 0.515 | 2 | - | ND |
| USP17L1 | - | - | - | - | 1 | Loss | ND |
| USP17L4 | - | - | - | - | 1 | Loss | ND |
| USP28 | p.R141C | Missense | SNP | 0.449 | 2 | - | ND |
| USP36 | p.N398I | Missense | SNP | 0.463 | 2 | - | ND |
| USP6 | p.R398W | Missense | SNP | 0.500 | 2 | - | ND |
| USP9X | p.M877I | Missense | SNP | 0.500 | ND | ND | ND |
| UTS2R | p.L299M | Missense | SNP | 0.458 | 2 | - | ND |
| UVSSA | p.Q84K | Missense | SNP | 0.444 | 2 | - | ND |
| VCPIP1 | p.Q645* | Nonsense | SNP | 0.480 | 2 | - | ND |
| VEGFC | p.G35E | Missense | SNP | 0.518 | 2 | - | ND |
| VGLL1 | p.P192S | Missense | SNP | 0.488 | ND | ND | ND |
| VIPR1 | p.A30V | Missense | SNP | 0.450 | 2 | - | ND |
| VPS13B | p.L1503I | Missense | SNP | 0.545 | 2 | - | ND |
| VPS13D | p.R2272I | Missense | SNP | 0.477 | 2 | - | ND |
| VPS16 | - | - | - | - | 3 | Gain | ND |
| VPS33A | p.S350W | Missense | SNP | 0.441 | 2 | - | ND |
| VPS36 | - | - | - | - | 3 | Gain | ND |
| VSTM2A | p.A150V | Missense | SNP | 0.494 | 2 | - | ND |
| VSX1 | p.V138I | Missense | SNP | 0.759 | 3 | Gain | ND |
| WDFY3 | p.G373S | Missense | SNP | 0.522 | 2 | - | ND |
| WDR11 | p.K61E | Missense | SNP | 0.421 | 2 | - | ND |
| WDR24 | - | - | - | - | 1 | Loss | ND |
| WDR90 | - | - | - | - | 1 | Loss | ND |
| WEE1 | p.R319K | Missense | SNP | 0.482 | 2 | - | ND |
| WFIKKN1 | - | - | - | - | 1 | Loss | ND |
| WFS1 | p.L130V | Missense | SNP | 0.452 | 2 | - | ND |
| WNK1 | p.R81S p.A2229E | Missense Missense | SNP SNP | 0.496 0.489 | 2 | - | ND |
| WRN | p.S467N | Missense | SNP | 0.504 | 2 | - | ND |
| XAGE2 | p.P40L | Missense | SNP | 0.414 | ND | ND | ND |
| XKR4 | p.D16Y | Missense | SNP | 0.494 | 2 | - | ND |
| XKR7 | - | - | - | - | 1 | Loss | ND |
| XPO6 | p.V292I | Missense | SNP | 0.468 | 2 | - | ND |
| XRN2 | - | - | - | - | 3 | Gain | ND |
| YLPM1 | p.P1804Q | Missense | DNP | 0.494 | 2 | - | ND |
| ZBTB25 | p.A181T | Missense | SNP | 0.443 | 2 | - | ND |
| ZBTB38 | p.G403* | Nonsense | SNP | 0.479 | 2 | - | ND |
| ZBTB49 | p.C369* | Nonsense | SNP | 0.477 | 2 | - | ND |
| ZC3H12A | p.P463Q | Missense | SNP | 0.532 | 2 | - | ND |
| ZC3H7A | p.A422T | Missense | SNP | 0.479 | 2 | - | ND |
| ZCCHC3 | - | - | - | - | 3 | Gain | ND |
| ZCCHC7 | p.M177I | Missense | SNP | 0.604 | 2 | - | ND |
| ZEB1 | p.N477K | Missense | SNP | 0.444 | 2 | - | ND |
| ZFAT | p.Q645H | Missense | SNP | 0.545 | 2 | - | ND |
| ZFP36 | p.S52G | Missense | SNP | 0.583 | 2 | - | ND |
| ZFP36L2 | p.S97F | Missense | SNP | 0.504 | 2 | - | ND |
| ZFP82 | p.P197T | Missense | SNP | 0.562 | 2 | - | ND |
| ZFYVE9 | p.R1143G | Missense | SNP | 0.478 | 2 | - | ND |
| ZG16B | - | - | - | - | 1 | Loss | ND |
| ZHX2 | p.P244S | Missense | SNP | 0.492 | 2 | - | ND |
| ZIC2 | - | - | - | - | 3 | Gain | ND |
| ZIC5 | - | - | - | - | 3 | Gain | ND |
| ZIK1 | p.S277N | Missense | SNP | 0.527 | 2 | - | ND |
| ZMYM2 | p.M458T | Missense | SNP | 0.454 | 2 | - | ND |
| ZNF112 | p.V47L | Missense | SNP | 0.561 | 2 | - | ND |
| ZNF133 | p.A353T | Missense | SNP | 0.331 | 3 | Gain | ND |
| ZNF140 | p.R339H | Missense | SNP | 0.470 | 2 | - | ND |
| ZNF174 | - | - | - | - | 1 | Loss | ND |
| ZNF195 | p.N219D | Missense | SNP | 0.471 | 2 | - | ND |
| ZNF200 | - | - | - | - | 1 | Loss | ND |
| ZNF205 | - | - | - | - | 1 | Loss | ND |
| ZNF213 | - | - | - | - | 1 | Loss | ND |
| ZNF223 | p.L421F | Missense | SNP | 0.476 | 2 | - | ND |
| ZNF263 | - | - | - | - | 1 | Loss | ND |
| ZNF268 | p.L403F | Missense | SNP | 0.562 | 2 | - | ND |
| ZNF282 | p.A103V | Missense | SNP | 0.450 | 2 | - | ND |
| ZNF324 | p.G138R | Missense | SNP | 0.481 | 2 | - | ND |
| ZNF337 | - | - | - | - | 3 | Gain | ND |
| ZNF341 | - | - | - | - | 1 | Loss | ND |
| ZNF343 | - | - | - | - | 3 | Gain | ND |
| ZNF383 | p.E18D | Missense | SNP | 0.432 | 2 | - | ND |
| ZNF385D | p.T158M | Missense | SNP | 0.478 | 2 | - | ND |
| ZNF391 | p.Q210R | Missense | SNP | 0.454 | 2 | - | ND |
| ZNF41 | p.E24* | Nonsense | SNP | 0.527 | ND | ND | ND |
| ZNF44 | p.R261C p.A150V | Missense Missense | SNP SNP | 0.473 0.460 | ND | ND | ND |
| ZNF469 | p.P3737L | Missense | SNP | 0.357 | 2 | - | ND |
| ZNF513 | p.E203K | Missense | SNP | 0.461 | 2 | - | ND |
| ZNF528 | p.G99R | Missense | SNP | 0.519 | 2 | - | ND |
| ZNF536 | p.A62T | Missense | SNP | 0.520 | 2 | - | ND |
| ZNF547 | p.C329R | Missense | SNP | 0.463 | 2 | - | ND |
| ZNF558 | p.T308A | Missense | SNP | 0.457 | 2 | - | ND |
| ZNF589 | p.T327I | Missense | SNP | 0.432 | 2 | - | ND |
| ZNF597 | - | - | - | - | 1 | Loss | ND |
| ZNF598 | - | - | - | - | 1 | Loss | ND |
| ZNF600 | p.K561T | Missense | SNP | 0.475 | 2 | - | ND |
| ZNF611 | p.C276F | Missense | SNP | 0.473 | 2 | - | ND |
| ZNF626 | p.P87Q | Missense | SNP | 0.304 | 2 | - | ND |
| ZNF646 | p.E432G | Missense | SNP | 0.479 | 2 | - | ND |
| ZNF746 | p.V564M | Missense | SNP | 0.492 | 2 | - | ND |
| ZNF75A | - | - | - | - | 1 | Loss | ND |
| ZNF777 | p.A687V | Missense | SNP | 0.520 | 2 | - | ND |
| ZNF792 | p.R550K p.H450N | Missense Missense | SNP SNP | 0.562 0.484 | 2 | - | ND |
| ZNF804A | p.A184T | Missense | SNP | 0.573 | 2 | - | ND |
| ZNF83 | p.K290R | Missense | SNP | 0.738 | 2 | - | ND |
| ZNF831 | p.A75P | Missense | SNP | 0.496 | 2 | - | ND |
| ZNF835 | p.A535T | Missense | SNP | 0.508 | 2 | - | ND |
| ZNF837 | p.H493N | Missense | SNP | 0.515 | 2 | - | ND |
| ZNF91 | p.P433L | Missense | SNP | 0.205 | 2 | - | ND |
| ZSCAN10 | p.P466L | Missense | SNP | 1.000 | 1 | Loss | ND |
| ZSCAN32 | - | - | - | - | 1 | Loss | ND |
| ZSCAN5A | p.P23R | Missense | SNP | 0.475 | 2 | - | ND |