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 |