PDMR-188146~221-R~KGVPN2_RG-NC5-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A3GALT2p.A286V
Missense
SNP
0.465
2-ND
ABCA3-
-
-
-
1LossND
ABCA4p.A222E
Missense
SNP
0.496
2-ND
ABCA6p.F139S
Missense
SNP
0.567
2-ND
ABCA9p.A679T
Missense
SNP
0.475
2-ND
ABCC4-
-
-
-
3GainND
ABCG5p.V232A
Missense
SNP
0.503
2-ND
ABHD12-
-
-
-
3GainND
ABHD13-
-
-
-
3GainND
ABI3p.A81V
Missense
SNP
0.627
2-ND
ABI3BPp.P915L
Missense
SNP
0.503
2-ND
ABTB1p.E378D
Missense
SNP
0.453
2-ND
ABTB2p.A171T
Missense
SNP
0.522
2-ND
AC001226.2-
-
-
-
3GainND
AC004076.9p.P100H
Missense
SNP
0.534
NDNDND
AC004754.1-
-
-
-
1LossND
AC018554.3-
-
-
-
3GainND
AC025283.2-
-
-
-
1LossND
AC025283.3-
-
-
-
1LossND
AC074143.1-
-
-
-
5AmpND
AC093525.1-
-
-
-
1LossND
AC093525.2-
-
-
-
1LossND
ACACAp.S975N
p.T706A
Missense
Missense
SNP
SNP
0.448
0.523
2-ND
ACEp.E923G
Missense
SNP
0.500
2-ND
ACIN1p.R1140W
p.S20N
Missense
Missense
SNP
SNP
0.628
0.486
2-ND
ACOD1-
-
-
-
3GainND
ACOT4p.A146T
Missense
SNP
0.345
2-ND
ACRBPp.G314C
Missense
SNP
0.543
2-ND
ACSS1-
-
-
-
3GainND
ACSS2-
-
-
-
1LossND
ACTL10-
-
-
-
1LossND
ACTN3p.R384H
p.K920N
Missense
Missense
SNP
SNP
0.545
0.475
2-ND
ADALp.D13Y
Missense
SNP
0.475
2-ND
ADAM18-
-
-
-
1LossND
ADAM2-
-
-
-
1LossND
ADAM33-
-
-
-
3GainND
ADAMTS10p.Q780R
Missense
SNP
0.510
2-ND
ADAMTS12p.R556K
Missense
SNP
0.393
2-ND
ADAMTS2p.S720N
Missense
SNP
0.498
2-ND
ADAMTS5p.R68H
Missense
SNP
0.498
2-ND
ADCY8p.V1100G
p.R49C
Missense
Missense
SNP
SNP
0.447
0.664
2-ND
ADCY9p.V985I
Missense
SNP
0.458
2-ND
ADCYAP1p.A125T
Missense
SNP
1.000
2-ND
ADGRB3p.F166L
p.X454_splice
Missense
Splice_Site
SNP
SNP
0.438
0.496
2-ND
ADGRD2p.R76H
Missense
SNP
0.487
2-ND
ADGRL2p.Q165L
Missense
SNP
0.450
2-ND
ADIPOR2p.L115F
Missense
SNP
0.450
2-ND
ADPRHL1-
-
-
-
3GainND
ADRA1D-
-
-
-
3GainND
AFTPHp.P747S
Missense
SNP
0.466
2-ND
AGFG2p.G180S
Missense
SNP
0.583
2-ND
AGO2p.A184T
Missense
SNP
0.478
2-ND
AHCY-
-
-
-
1LossND
AJAP1p.S342R
Missense
SNP
0.496
2-ND
AK5p.E466*
Nonsense
SNP
0.426
2-ND
AKAP10p.A412E
Missense
SNP
0.488
2-ND
AKT3p.G160W
Missense
SNP
0.429
2-ND
AL031708.1-
-
-
-
1LossND
AL035460.1-
-
-
-
3GainND
AL049634.2-
-
-
-
3GainND
AL049650.1-
-
-
-
3GainND
AL109827.1-
-
-
-
1LossND
AL121722.1-
-
-
-
3GainND
AL121753.1-
-
-
-
1LossND
AL121758.1-
-
-
-
3GainND
AL121900.2-
-
-
-
3GainND
AL136531.2-
-
-
-
3GainND
AL160272.2-
-
-
-
1LossND
AL445238.1-
-
-
-
5AmpND
AL445989.1-
-
-
-
5AmpND
AL592490.1-
-
-
-
3GainND
ALDH6A1p.A92V
Missense
SNP
0.528
2-ND
ALKp.G761D
Missense
SNP
0.458
2-ND
ALX1p.G120V
Missense
SNP
0.431
2-ND
AMDHD2-
-
-
-
1LossND
AMER2p.E312D
Missense
SNP
0.455
2-ND
AMHp.G264C
Missense
SNP
0.500
2-ND
AMIGO1p.N111T
Missense
SNP
0.543
2-ND
AMIGO3p.A62D
Missense
SNP
0.447
2-ND
ANAPC7p.L464S
Missense
SNP
0.397
2-ND
ANGPT1p.N182D
Missense
SNP
0.532
2-ND
ANGPT4-
-
-
-
3GainND
ANK2p.A195V
p.M1510I
Missense
Missense
SNP
SNP
0.481
0.457
2-ND
ANKEF1-
-
-
-
3GainND
ANKFY1p.T1088M
Missense
SNP
0.377
2-ND
ANKRD10-
-
-
-
3GainND
ANKRD24p.R1004H
Missense
SNP
0.583
2-ND
ANKRD34Ap.V13M
Missense
SNP
0.512
2-ND
ANKRD36p.R96S
Missense
SNP
0.449
2-ND
ANKRD53p.P30Q
Missense
SNP
0.554
2-ND
AP2A1p.R516H
Missense
SNP
0.514
2-ND
AP5S1-
-
-
-
3GainND
APMAP-
-
-
-
3GainND
APOL6p.V216M
Missense
SNP
0.560
2-ND
AQP6p.H184N
Missense
SNP
0.542
2-ND
AQRp.P959Q
Missense
SNP
0.140
2-ND
ARAP2p.S939P
Missense
SNP
0.481
2-ND
ARFGEF1p.T823I
Missense
SNP
0.574
2-ND
ARGLU1-
-
-
-
3GainND
ARHGAP15p.A378V
Missense
SNP
0.429
2-ND
ARHGAP17p.L629M
Missense
SNP
0.446
2-ND
ARHGAP21p.A688D
Missense
SNP
0.504
2-ND
ARHGAP23p.R1327C
Missense
SNP
0.600
2-ND
ARHGAP28p.H293N
Missense
SNP
0.448
2-ND
ARHGAP31p.L715P
Missense
SNP
0.561
2-ND
ARHGAP33p.R1075K
Missense
SNP
0.461
2-ND
ARHGAP35p.L497F
Missense
SNP
0.435
2-ND
ARHGAP6p.W947L
Missense
SNP
0.509
NDNDND
ARHGDIG-
-
-
-
1LossND
ARHGEF7-
-
-
-
3GainND
ARRDC5p.C138Y
Missense
SNP
0.438
2-ND
ARSFp.R354Q
Missense
SNP
0.476
NDNDND
ASB2p.T456I
Missense
SNP
0.460
2-ND
ASCC3p.T1755I
Missense
SNP
0.542
2-ND
ASIP-
-
-
-
1LossND
ASTN1p.A145T
Missense
SNP
0.356
2-ND
ASXL1-
-
-
-
1LossND
ATAD2Bp.M1120I
Missense
SNP
0.464
2-ND
ATCAYp.K176R
Missense
SNP
0.504
2-ND
ATF7IP2p.D223N
Missense
SNP
0.577
2-ND
ATG101p.L200M
Missense
SNP
0.444
2-ND
ATG13p.X483_splice
Splice_Site
SNP
0.452
2-ND
ATG3p.K131N
Missense
SNP
0.434
2-ND
ATG4Bp.A47E
Missense
SNP
0.536
2-ND
ATMp.T2636I
Missense
SNP
0.452
2-ND
ATN1p.S119N
Missense
SNP
0.488
2-ND
ATP11A-
-
-
-
3GainND
ATP13A1p.T401M
Missense
SNP
0.472
2-ND
ATP1A2p.R225H
Missense
SNP
0.534
2-ND
ATP1A3p.X171_splice
Splice_Site
DNP
0.466
2-ND
ATP1A4p.M403I
Missense
SNP
0.482
2-ND
ATP2A2p.T242S
Missense
SNP
0.463
2-ND
ATP4B-
-
-
-
3GainND
ATP5J2-PTCD1p.M26I
Missense
SNP
0.493
NDNDND
ATP6V0C-
-
-
-
1LossND
ATP7Ap.D609N
Missense
SNP
0.429
NDNDND
ATP7Bp.R166Q
Missense
SNP
0.491
2-ND
ATP8B2p.A1066T
Missense
SNP
0.536
2-ND
ATP9Ap.K404N
Missense
SNP
0.484
2-ND
ATRNp.A6E
Missense
SNP
0.678
3GainND
AVP-
-
-
-
3GainND
AXIN1-
-
-
-
1LossND
B3GALT4p.Q135*
Nonsense
SNP
0.486
2-ND
B3GALT5p.P268R
Missense
SNP
0.375
2-ND
B3GNT9p.V234M
Missense
SNP
0.226
5AmpND
BAIAP3p.D1113N
Missense
SNP
1.000
1LossND
BANF2-
-
-
-
3GainND
BANPp.S445N
Missense
SNP
0.446
2-ND
BCAT2p.S179L
Missense
SNP
0.508
2-ND
BCL11Bp.G655R
Missense
SNP
0.538
2-ND
BCL2L1-
-
-
-
1LossND
BCL7Ap.P214Q
Missense
SNP
0.372
2-ND
BCL9Lp.P314L
Missense
SNP
0.574
2-ND
BEX1p.Q74*
Nonsense
SNP
0.457
NDNDND
BFSP1-
-
-
-
3GainND
BICD2p.T391A
Missense
SNP
0.498
2-ND
BICDL2-
-
-
-
1LossND
BIN2p.Q440K
Missense
SNP
0.497
2-ND
BIVM-
-
-
-
3GainND
BIVM-ERCC5-
-
-
-
3GainND
BLOC1S5p.S101N
Missense
SNP
0.541
2-ND
BMP2-
-
-
-
3GainND
BMPR1Ap.T229I
Missense
SNP
0.452
2-ND
BMPR2p.R213*
Nonsense
SNP
0.502
2-ND
BORAp.A75V
Missense
SNP
0.278
3GainND
BPIFA1-
-
-
-
1LossND
BPIFA2-
-
-
-
1LossND
BPIFA3-
-
-
-
1LossND
BPIFB1-
-
-
-
1LossND
BPIFB2-
-
-
-
1LossND
BPIFB3-
-
-
-
1LossND
BPIFB4-
-
-
-
1LossND
BPIFB6-
-
-
-
1LossND
BRAFp.V600E
Missense
SNP
0.592
NDNDND
BRCA2p.D2611N
Missense
SNP
0.450
2-ND
BRD8p.L315V
Missense
SNP
0.463
2-ND
BRDTp.G413R
Missense
SNP
0.469
2-ND
BRICD5-
-
-
-
1LossND
BRIX1p.E37K
Missense
SNP
0.465
2-ND
BTBD11p.R228H
Missense
SNP
0.435
2-ND
BTBD3-
-
-
-
3GainND
BYSLp.E128D
Missense
SNP
0.431
2-ND
C10orf54p.M233I
Missense
SNP
0.520
NDNDND
C10orf71p.V258I
Missense
SNP
0.538
2-ND
C11orf21p.P80S
Missense
SNP
0.448
2-ND
C11orf68p.K240M
Missense
SNP
0.534
2-ND
C11orf84p.A32T
Missense
SNP
0.616
NDNDND
C15orf48p.T21N
Missense
SNP
0.475
2-ND
C16orf70-
-
-
-
5AmpND
C16orf90-
-
-
-
1LossND
C16orf91-
-
-
-
1LossND
C17orf53p.S513N
Missense
SNP
0.472
2-ND
C17orf58p.Q57K
Missense
SNP
0.537
2-ND
C19orf52p.A136V
Missense
SNP
0.382
NDNDND
C1orf112p.D594G
Missense
SNP
0.472
2-ND
C1orf167p.R742L
Missense
SNP
0.481
2-ND
C1orf50p.L56I
Missense
SNP
0.450
2-ND
C1QTNF8-
-
-
-
1LossND
C2p.L241M
Missense
SNP
0.407
2-ND
C20orf141-
-
-
-
3GainND
C20orf144-
-
-
-
1LossND
C20orf173-
-
-
-
1LossND
C20orf194-
-
-
-
3GainND
C20orf202-
-
-
-
3GainND
C20orf203-
-
-
-
1LossND
C20orf24p.Q90H
Missense
SNP
0.425
NDNDND
C20orf27-
-
-
-
3GainND
C20orf96-
-
-
-
3GainND
C2orf80p.S133N
Missense
SNP
0.412
2-ND
C3p.T329I
Missense
SNP
0.415
2-ND
C3AR1p.S74P
Missense
SNP
0.458
2-ND
C3orf22p.Q18R
Missense
SNP
0.500
2-ND
C4A-
-
-
-
1LossND
C4B-
-
-
-
1LossND
C4orf48p.C123Y
Missense
SNP
0.514
2-ND
C8orf48p.R44Q
Missense
SNP
0.506
2-ND
C9orf69p.T66I
Missense
SNP
0.475
NDNDND
C9orf84p.G874R
Missense
SNP
0.526
2-ND
CACNA1Bp.P538T
p.V1704L
Missense
Missense
SNP
SNP
0.522
0.447
2-ND
CACNA1Gp.V230I
Missense
SNP
0.414
2-ND
CACNA1H-
-
-
-
1LossND
CACNA2D4p.P36L
Missense
SNP
0.497
2-ND
CACNB4p.Y398*
p.Q164*
Nonsense
Nonsense
SNP
SNP
0.491
0.447
2-ND
CADp.W743*
Nonsense
SNP
0.462
2-ND
CADM4p.V247I
Missense
SNP
0.398
2-ND
CALN1p.R232W
Missense
SNP
0.457
2-ND
CAPN15-
-
-
-
1LossND
CARMIL2p.D226N
p.A689V
Missense
Missense
SNP
SNP
0.503
0.490
2-ND
CARS2-
-
-
-
3GainND
CASKIN1-
-
-
-
1LossND
CASP10p.L384P
Missense
SNP
0.438
2-ND
CASP8AP2p.V1703I
Missense
SNP
0.426
2-ND
CATSPERGp.S155N
Missense
SNP
0.532
2-ND
CBFA2T2-
-
-
-
1LossND
CBLp.A221V
Missense
SNP
0.442
2-ND
CCDC102Ap.R31H
Missense
SNP
0.562
NDNDND
CCDC149p.A300V
Missense
SNP
0.457
2-ND
CCDC154-
-
-
-
1LossND
CCDC168p.T1109I
Missense
SNP
0.378
3GainND
CCDC170p.X197_splice
Splice_Site
SNP
0.342
2-ND
CCDC34p.Q347K
Missense
SNP
0.460
2-ND
CCDC36p.E172D
Missense
SNP
0.456
2-ND
CCDC47p.V241M
Missense
SNP
0.497
2-ND
CCDC60p.H161R
p.E517Q
Missense
Missense
SNP
SNP
0.484
0.429
2-ND
CCDC78-
-
-
-
1LossND
CCKBRp.D254N
Missense
SNP
0.468
2-ND
CCM2L-
-
-
-
1LossND
CCNF-
-
-
-
1LossND
CCNJLp.L313V
Missense
SNP
0.485
2-ND
CCR5p.T284I
Missense
SNP
0.446
2-ND
CD163p.E764*
Nonsense
SNP
0.505
2-ND
CD276p.A432V
Missense
SNP
0.581
2-ND
CD4p.Q137K
Missense
SNP
0.471
2-ND
CD93-
-
-
-
3GainND
CD96p.V505I
Missense
SNP
0.484
2-ND
CDC16-
-
-
-
3GainND
CDC25Bp.L34M
Missense
SNP
0.361
3GainND
CDH22p.T562M
Missense
SNP
0.520
2-ND
CDH23p.R2112*
Nonsense
SNP
0.487
2-ND
CDH6p.W770C
Missense
SNP
0.495
2-ND
CDH7p.R771*
Nonsense
SNP
1.000
2-ND
CDHR2p.V418L
Missense
SNP
0.418
2-ND
CDK5RAP1-
-
-
-
1LossND
CDKL5p.V192M
Missense
SNP
0.447
NDNDND
CDONp.G393V
Missense
SNP
0.493
2-ND
CDS2-
-
-
-
3GainND
CEACAM1p.D116E
Missense
SNP
0.463
2-ND
CECR1p.A448S
Missense
SNP
0.507
NDNDND
CEMP1-
-
-
-
1LossND
CENPB-
-
-
-
3GainND
CENPUp.R319C
Missense
SNP
0.474
2-ND
CEP250-
-
-
-
1LossND
CFAP61-
-
-
-
3GainND
CFAP74p.P1106Q
Missense
SNP
0.531
2-ND
CFHp.M340T
Missense
SNP
0.552
2-ND
CGNL1p.Q199*
Nonsense
SNP
0.468
2-ND
CHAMP1-
-
-
-
3GainND
CHCHD2p.X149_splice
Splice_Site
SNP
0.436
2-ND
CHD3p.V36E
Missense
SNP
0.480
2-ND
CHD7p.P532T
Missense
SNP
0.442
2-ND
CHD8p.G266W
Missense
SNP
0.503
2-ND
CHGB-
-
-
-
3GainND
CHMP4B-
-
-
-
1LossND
CHRM4p.I410V
Missense
SNP
0.441
2-ND
CHRNB4p.W143*
Nonsense
SNP
0.485
2-ND
CHST7p.P174L
Missense
SNP
0.504
NDNDND
CHTF18-
-
-
-
1LossND
CIAO3-
-
-
-
1LossND
CILP2p.R735H
Missense
SNP
0.545
2-ND
CKAP2-
-
-
-
3GainND
CLASRPp.P287H
Missense
SNP
0.312
2-ND
CLCN2p.G382C
Missense
SNP
0.505
2-ND
CLCN7p.G820D
Missense
SNP
1.000
1LossND
CLDN10-
-
-
-
3GainND
CLDN19p.S217P
Missense
SNP
0.604
2-ND
CLDN6-
-
-
-
1LossND
CLDN9-
-
-
-
1LossND
CLEC17Ap.E22D
Missense
SNP
0.579
2-ND
CLEC6Ap.E120D
Missense
SNP
0.475
2-ND
CLN5-
-
-
-
3GainND
CLNS1Ap.S50Y
Missense
SNP
0.402
2-ND
CLSTN1p.Q266*
Nonsense
SNP
0.562
2-ND
CLUAP1-
-
-
-
1LossND
CLUHp.S1123L
Missense
SNP
0.496
2-ND
CLYBL-
-
-
-
3GainND
CMYA5p.G1579C
Missense
SNP
0.429
2-ND
CNBD2-
-
-
-
1LossND
CNMD-
-
-
-
3GainND
CNNM2p.L378I
Missense
SNP
0.475
2-ND
CNOT10p.P786L
Missense
SNP
0.478
2-ND
CNOT3p.K356R
Missense
SNP
0.559
2-ND
CNTN5p.R245W
Missense
SNP
0.528
2-ND
COCHp.A3T
p.G476W
Missense
Missense
SNP
SNP
0.519
0.433
2-ND
COL11A1p.V405L
Missense
SNP
0.478
2-ND
COL11A2p.G300E
Missense
SNP
0.538
2-ND
COL22A1p.G1576*
Nonsense
SNP
0.305
2-ND
COL24A1p.G561A
Missense
SNP
0.463
2-ND
COL2A1p.P970S
p.G504S
Missense
Missense
SNP
SNP
0.529
0.500
2-ND
COL4A1p.G732R
p.X374_splice
Missense
Splice_Site
SNP
SNP
0.334
0.317
3GainND
COL4A2-
-
-
-
3GainND
COL4A4p.P709H
p.G539R
Missense
Missense
SNP
SNP
0.475
0.520
2-ND
COL5A2p.P685L
Missense
SNP
0.478
2-ND
COL6A1p.A965T
Missense
SNP
0.485
2-ND
COL6A5p.S143L
Missense
SNP
0.468
2-ND
COL6A6p.A889V
Missense
SNP
0.542
2-ND
COL7A1p.T389A
Missense
SNP
0.488
2-ND
COL8A1p.G167W
p.N608H
Missense
Missense
SNP
SNP
0.497
0.429
2-ND
COMMD6-
-
-
-
3GainND
COMMD7-
-
-
-
1LossND
COPAp.H102N
Missense
SNP
0.459
2-ND
COPG1p.A831V
Missense
SNP
0.497
2-ND
COPS2p.R169*
Nonsense
SNP
0.403
2-ND
COQ4p.W143L
Missense
SNP
0.532
2-ND
COX4I2-
-
-
-
1LossND
CPAMD8p.L1496M
Missense
SNP
0.473
2-ND
CPDp.G324D
Missense
SNP
0.433
2-ND
CPNE1-
-
-
-
1LossND
CPNE5p.X46_splice
Splice_Site
SNP
0.472
2-ND
CPXM1-
-
-
-
3GainND
CRAMP1-
-
-
-
1LossND
CREB1p.P132L
Missense
SNP
0.506
2-ND
CREB3L1p.A151T
Missense
SNP
0.504
2-ND
CREBBPp.Q2157K
Missense
SNP
1.000
1LossND
CRLS1-
-
-
-
3GainND
CRMP1p.R113H
Missense
SNP
0.438
2-ND
CRNKL1-
-
-
-
3GainND
CROCC2p.E1315*
Nonsense
SNP
0.439
2-ND
CRYGAp.R147K
Missense
SNP
0.467
2-ND
CSMD2p.P2199R
Missense
SNP
0.522
2-ND
CSMD3p.A3269V
Missense
SNP
0.426
2-ND
CSNK2A1-
-
-
-
3GainND
CSNK2A3p.I174M
Missense
SNP
0.433
2-ND
CST1-
-
-
-
3GainND
CST11-
-
-
-
3GainND
CST2-
-
-
-
3GainND
CST3-
-
-
-
3GainND
CST4-
-
-
-
3GainND
CST5-
-
-
-
3GainND
CST7-
-
-
-
3GainND
CST8-
-
-
-
3GainND
CST9-
-
-
-
3GainND
CST9L-
-
-
-
3GainND
CSTL1-
-
-
-
3GainND
CT83p.G105C
Missense
SNP
0.510
NDNDND
CTNND2p.E72*
Nonsense
SNP
0.476
2-ND
CTPS1p.G451D
Missense
SNP
0.519
2-ND
CTR9p.S1112R
Missense
SNP
0.457
2-ND
CUL4A-
-
-
-
3GainND
CUL9p.H1599Y
Missense
SNP
0.435
2-ND
CYLC1p.K304T
Missense
SNP
0.520
NDNDND
CYP1B1p.V235L
Missense
SNP
0.549
2-ND
CYP26C1p.R457H
Missense
SNP
0.500
2-ND
CYP3A7p.V71I
Missense
SNP
0.359
2-ND
CYP46A1p.R261H
Missense
SNP
0.589
2-ND
CYP4F22p.R55Q
Missense
SNP
0.408
2-ND
DACH1-
-
-
-
3GainND
DAOA-
-
-
-
3GainND
DARS2p.D393G
Missense
SNP
0.488
2-ND
DAXXp.R391I
p.R328H
Missense
Missense
SNP
SNP
0.452
0.485
2-ND
DBX1p.Q30*
Nonsense
SNP
0.528
2-ND
DCAF1p.A1339T
Missense
SNP
0.462
2-ND
DCAF12L1p.T115A
Missense
SNP
0.443
NDNDND
DCT-
-
-
-
3GainND
DCUN1D2-
-
-
-
3GainND
DCUN1D3p.Q251K
Missense
SNP
0.525
2-ND
DCXp.F338I
Missense
SNP
0.517
NDNDND
DDRGK1-
-
-
-
3GainND
DDX4p.R51T
Missense
SNP
0.422
2-ND
DDX53p.Q360K
Missense
SNP
0.471
NDNDND
DECR2-
-
-
-
1LossND
DEF6p.A294V
Missense
SNP
0.431
2-ND
DEFB103A-
-
-
-
1LossND
DEFB103B-
-
-
-
1LossND
DEFB104A-
-
-
-
1LossND
DEFB104B-
-
-
-
1LossND
DEFB105A-
-
-
-
1LossND
DEFB105B-
-
-
-
1LossND
DEFB106A-
-
-
-
1LossND
DEFB106B-
-
-
-
1LossND
DEFB107A-
-
-
-
1LossND
DEFB107B-
-
-
-
1LossND
DEFB115-
-
-
-
1LossND
DEFB116-
-
-
-
1LossND
DEFB118-
-
-
-
1LossND
DEFB119-
-
-
-
1LossND
DEFB121-
-
-
-
1LossND
DEFB123-
-
-
-
1LossND
DEFB124-
-
-
-
1LossND
DEFB125-
-
-
-
3GainND
DEFB126-
-
-
-
3GainND
DEFB127-
-
-
-
3GainND
DEFB128-
-
-
-
3GainND
DEFB129-
-
-
-
3GainND
DEFB132-
-
-
-
3GainND
DEFB4A-
-
-
-
1LossND
DEFB4B-
-
-
-
1LossND
DENND1Ap.Q898H
Missense
SNP
0.517
2-ND
DENND6Bp.Q56H
Missense
SNP
0.557
2-ND
DERAp.I18T
Missense
SNP
0.498
2-ND
DGKEp.L263F
Missense
SNP
0.469
2-ND
DHODHp.E190D
Missense
SNP
0.426
2-ND
DHX30p.R17C
Missense
SNP
0.505
2-ND
DIAPH3-
-
-
-
3GainND
DICER1p.Q1702H
Missense
SNP
0.500
2-ND
DIEXFp.V116L
Missense
SNP
0.422
NDNDND
DIP2Cp.V834M
Missense
SNP
0.525
2-ND
DIS3-
-
-
-
3GainND
DLG2p.C7F
Missense
SNP
0.450
2-ND
DLG3p.R271C
Missense
SNP
0.500
NDNDND
DLGAP2p.T129M
Missense
SNP
0.506
2-ND
DLGAP3p.R668*
Nonsense
SNP
0.498
2-ND
DLL3p.R302C
Missense
SNP
0.578
2-ND
DLX6p.K165E
Missense
SNP
0.523
2-ND
DMDp.A2533T
Missense
SNP
0.408
NDNDND
DMXL1p.R1676M
Missense
SNP
0.406
2-ND
DMXL2p.F2491L
Missense
SNP
0.304
2-ND
DNAH3p.L2733P
Missense
SNP
0.395
2-ND
DNAH8p.R434P
Missense
SNP
0.456
2-ND
DNAJC17p.X265_splice
p.R157M
Splice_Site
Missense
SNP
SNP
0.407
0.500
2-ND
DNAJC28p.L358F
Missense
SNP
0.442
2-ND
DNAJC3-
-
-
-
3GainND
DNASE1-
-
-
-
1LossND
DNASE1L2-
-
-
-
1LossND
DNMT3B-
-
-
-
1LossND
DNTTIP1p.L207M
Missense
SNP
0.440
2-ND
DOC2Ap.K207Q
Missense
SNP
0.511
2-ND
DOCK5p.E307K
Missense
SNP
0.464
2-ND
DOCK7p.R1547K
Missense
SNP
0.427
2-ND
DOCK9-
-
-
-
3GainND
DOLKp.L171F
Missense
SNP
0.500
2-ND
DOPEY2p.Q1480*
p.L1757P
Nonsense
Missense
SNP
SNP
0.441
0.502
NDNDND
DPCR1p.N983H
Missense
SNP
0.503
NDNDND
DPF3p.G375C
Missense
SNP
0.506
2-ND
DPP3p.L658R
Missense
SNP
0.405
2-ND
DPP9p.A627E
Missense
SNP
0.479
2-ND
DPPA2p.A196D
Missense
SNP
0.445
2-ND
DRAXINp.H139Q
Missense
SNP
0.486
2-ND
DRD3p.S244F
Missense
SNP
0.439
2-ND
DSC2p.C15Y
Missense
SNP
0.510
2-ND
DSPp.A2691G
Missense
SNP
0.516
2-ND
DSTN-
-
-
-
3GainND
DTD1-
-
-
-
3GainND
DTLp.Q33H
Missense
SNP
0.469
2-ND
DTX4p.P508H
Missense
SNP
0.506
2-ND
DUOX2p.G1236D
Missense
SNP
0.532
2-ND
DUS3Lp.E504*
Nonsense
SNP
0.463
2-ND
DUSP15-
-
-
-
1LossND
DUSP5p.M307I
Missense
SNP
0.474
2-ND
DYNLRB1-
-
-
-
1LossND
DYSFp.A1611T
Missense
SNP
0.565
2-ND
DZANK1-
-
-
-
3GainND
DZIP1p.Q438*
Nonsense
SNP
0.337
3GainND
E2F1p.L395P
Missense
SNP
1.000
1LossND
E2F4-
-
-
-
5AmpND
E4F1-
-
-
-
1LossND
EBF1p.S7N
Missense
SNP
0.495
2-ND
EBF3p.R246C
p.R209W
Missense
Missense
SNP
SNP
0.523
0.414
2-ND
EBF4-
-
-
-
3GainND
ECI1-
-
-
-
1LossND
ECM1p.P466L
Missense
SNP
0.482
2-ND
EDAp.P187L
Missense
SNP
0.427
NDNDND
EDEM2-
-
-
-
1LossND
EDNRB-
-
-
-
3GainND
EEF1Gp.C68S
Missense
SNP
0.553
2-ND
EFCAB13p.H6N
Missense
SNP
0.464
2-ND
EFCAB8-
-
-
-
1LossND
EFNB2-
-
-
-
3GainND
EFR3Ap.Q529P
Missense
SNP
0.415
2-ND
EGR1p.R336C
Missense
SNP
0.445
2-ND
EHBP1p.R1189H
Missense
SNP
0.450
2-ND
EHMT1p.G325D
Missense
SNP
0.467
2-ND
EIF2Ap.T246S
Missense
SNP
0.480
2-ND
EIF2S2-
-
-
-
1LossND
EIF3Hp.T123I
Missense
SNP
0.520
2-ND
EIF6-
-
-
-
1LossND
ELF2p.A480T
Missense
SNP
0.502
2-ND
ELFN2p.P258H
Missense
SNP
0.498
2-ND
ELL3p.P235S
Missense
SNP
0.436
2-ND
ELMO3-
-
-
-
5AmpND
ELOB-
-
-
-
1LossND
EME2-
-
-
-
1LossND
EMILIN3p.R549C
Missense
SNP
0.461
2-ND
EML2p.R79P
Missense
SNP
0.533
2-ND
EMSYp.A539V
Missense
SNP
0.486
2-ND
ENPP1p.A546T
Missense
SNP
0.478
2-ND
ENTPD6-
-
-
-
3GainND
EP400p.R1880W
Missense
SNP
0.430
2-ND
EPHA5p.L450V
Missense
SNP
0.371
2-ND
EPHX3p.G336W
Missense
SNP
0.444
2-ND
EPHX4p.S335T
Missense
SNP
0.425
2-ND
EPPK1-
-
-
-
1LossND
ERCC5-
-
-
-
3GainND
ERFEp.R98S
Missense
SNP
0.547
2-ND
ERGIC3-
-
-
-
1LossND
ERO1Ap.P185L
Missense
SNP
0.485
2-ND
ERVMER34-1p.A534T
Missense
SNP
0.505
2-ND
ESF1-
-
-
-
3GainND
ESPL1p.R664K
Missense
SNP
0.458
2-ND
ETV3Lp.R78H
Missense
SNP
0.476
2-ND
EVA1Ap.V97M
Missense
SNP
0.539
2-ND
EVPLp.Q1208*
Nonsense
SNP
0.492
2-ND
EXO5p.C352Y
Missense
SNP
0.461
2-ND
EXOC3L1-
-
-
-
5AmpND
EXOSC8p.P81H
Missense
SNP
0.542
2-ND
EXTL3p.T35M
Missense
SNP
0.489
2-ND
F10p.A187D
Missense
SNP
0.351
3GainND
F7-
-
-
-
3GainND
FAHD1-
-
-
-
1LossND
FAM110A-
-
-
-
3GainND
FAM111Bp.S112G
Missense
SNP
0.460
2-ND
FAM127Bp.N92Y
Missense
SNP
0.517
NDNDND
FAM149B1p.G80W
Missense
SNP
0.413
2-ND
FAM155A-
-
-
-
3GainND
FAM161Bp.Q487*
Nonsense
SNP
0.369
2-ND
FAM171A2p.G229C
Missense
SNP
0.471
2-ND
FAM173A-
-
-
-
1LossND
FAM179Bp.L1487I
Missense
SNP
0.532
NDNDND
FAM198Ap.L356M
Missense
SNP
0.496
2-ND
FAM198Bp.C351Y
Missense
SNP
0.548
2-ND
FAM208Ap.G1073D
Missense
SNP
0.509
2-ND
FAM21Cp.S31I
Missense
SNP
0.595
NDNDND
FAM221Bp.A341T
Missense
SNP
0.540
2-ND
FAM234A-
-
-
-
1LossND
FAM43Bp.R207C
Missense
SNP
0.470
2-ND
FAM71E2p.S316L
Missense
SNP
0.349
2-ND
FAM83C-
-
-
-
1LossND
FAM83Hp.P112S
Missense
SNP
0.446
2-ND
FARP1-
-
-
-
3GainND
FARSBp.X540_splice
Splice_Site
SNP
0.400
2-ND
FASTKD5-
-
-
-
3GainND
FAT3p.R4063C
Missense
SNP
0.494
2-ND
FBN1p.G479E
Missense
SNP
0.505
2-ND
FBN2p.Q257H
Missense
SNP
0.529
2-ND
FBXL13p.C489Y
Missense
SNP
0.477
2-ND
FBXL16-
-
-
-
1LossND
FBXL3-
-
-
-
3GainND
FBXL8p.A158T
Missense
SNP
0.792
5AmpND
FBXO31p.P176L
Missense
SNP
0.456
2-ND
FBXO46p.G207C
Missense
SNP
0.570
2-ND
FCHSD1p.R671C
Missense
SNP
0.491
2-ND
FEM1Cp.S418I
Missense
SNP
0.459
2-ND
FERMT1-
-
-
-
3GainND
FGAp.G301R
Missense
SNP
0.543
2-ND
FGD1p.G791V
Missense
SNP
0.505
NDNDND
FGF14-
-
-
-
3GainND
FGFR1p.N794D
Missense
SNP
0.447
2-ND
FHL2p.C254Y
Missense
SNP
0.603
2-ND
FHOD1-
-
-
-
5AmpND
FHOD3p.S802N
Missense
SNP
1.000
2-ND
FITM1p.W98*
Nonsense
SNP
0.494
2-ND
FKBP1A-
-
-
-
3GainND
FLNAp.K620N
Missense
SNP
0.443
NDNDND
FLRT1p.R149C
Missense
SNP
0.518
2-ND
FLRT2-
-
-
-
3GainND
FLRT3-
-
-
-
3GainND
FLYWCH1-
-
-
-
1LossND
FLYWCH2-
-
-
-
1LossND
FO393400.1-
-
-
-
1LossND
FOXA1p.G318V
Missense
SNP
0.608
2-ND
FOXA2-
-
-
-
3GainND
FOXJ1p.Q84E
Missense
SNP
0.382
2-ND
FOXRED2p.R407C
Missense
SNP
0.561
2-ND
FOXS1-
-
-
-
1LossND
FPR1p.S215P
Missense
SNP
0.422
2-ND
FRA10AC1p.K262R
Missense
SNP
0.440
2-ND
FRAS1p.E1132K
Missense
SNP
0.455
2-ND
FREM1p.E1344Q
Missense
SNP
0.345
2-ND
FRMPD3p.G681W
p.T786I
Missense
Missense
SNP
SNP
0.493
0.516
NDNDND
FXR2p.R378M
Missense
SNP
0.523
2-ND
FZD6p.I86T
Missense
SNP
0.478
2-ND
GABRA1p.L221P
Missense
SNP
0.435
2-ND
GABRB1p.A363T
Missense
SNP
0.469
2-ND
GAD1p.R387H
Missense
SNP
0.503
2-ND
GALNT10p.T584N
Missense
SNP
0.463
2-ND
GALNT15p.A263S
Missense
SNP
0.503
2-ND
GALR3p.A236T
Missense
SNP
0.525
2-ND
GAPVD1p.L444I
Missense
SNP
0.392
2-ND
GAREM2p.E350K
Missense
SNP
0.478
2-ND
GAS6-
-
-
-
3GainND
GCNT2p.A325V
Missense
SNP
0.453
2-ND
GDF5-
-
-
-
1LossND
GDF7p.A337V
Missense
SNP
0.522
2-ND
GDI1p.V161I
Missense
SNP
0.479
NDNDND
GFER-
-
-
-
1LossND
GFRA4-
-
-
-
3GainND
GGACT-
-
-
-
3GainND
GGT6p.E33K
Missense
SNP
0.576
2-ND
GGT7p.A456V
Missense
SNP
1.000
1LossND
GGTLC1-
-
-
-
3GainND
GH2p.E217K
Missense
SNP
0.458
2-ND
GHRp.P307Q
Missense
SNP
0.468
2-ND
GIMAP2.
Splice_Site
SNP
0.558
2-ND
GINS1-
-
-
-
3GainND
GLI1p.A985V
Missense
SNP
0.484
2-ND
GLIS2p.P266T
Missense
SNP
0.511
2-ND
GLT8D1-
-
-
-
3GainND
GLUD2p.R519G
Missense
SNP
0.487
NDNDND
GLULp.G251S
Missense
SNP
0.496
2-ND
GNAI2p.A104T
Missense
SNP
0.588
2-ND
GNG13-
-
-
-
1LossND
GNL3-
-
-
-
3GainND
GNPATp.F273S
Missense
SNP
0.464
2-ND
GNPTG-
-
-
-
1LossND
GNRH2-
-
-
-
3GainND
GOLGA5p.H211Q
Missense
SNP
0.442
2-ND
GOLGA7Bp.G61R
Missense
SNP
0.554
2-ND
GPBAR1p.A223T
Missense
SNP
0.518
2-ND
GPC5-
-
-
-
3GainND
GPC6-
-
-
-
3GainND
GPCPD1-
-
-
-
3GainND
GPR152p.L149F
Missense
SNP
0.544
2-ND
GPR18-
-
-
-
3GainND
GPR180-
-
-
-
3GainND
GPR183p.S332Y
Missense
SNP
0.326
3GainND
GPR20p.G316V
Missense
SNP
0.457
2-ND
GPR89A-
-
-
-
1LossND
GRIA3p.K160M
Missense
SNP
0.509
NDNDND
GRID2p.R45C
p.N52H
Missense
Missense
SNP
SNP
0.526
0.479
2-ND
GRIN1p.A755V
Missense
SNP
0.487
2-ND
GRIN2Ap.T1164M
Missense
SNP
0.550
2-ND
GRK1-
-
-
-
3GainND
GRK4p.E574K
Missense
SNP
0.414
2-ND
GRNp.V500L
Missense
SNP
0.500
2-ND
GRTP1-
-
-
-
3GainND
GSS-
-
-
-
1LossND
GTPBP1p.Q235R
Missense
SNP
0.433
2-ND
GTPBP2p.L284Q
Missense
SNP
0.548
2-ND
GTPBP3p.R494W
Missense
SNP
0.461
2-ND
GZF1-
-
-
-
3GainND
H2AFJp.Q105R
Missense
SNP
0.449
2-ND
HABP2p.A214V
Missense
SNP
0.463
2-ND
HADHBp.A290V
Missense
SNP
0.645
2-ND
HAGH-
-
-
-
1LossND
HAGHL-
-
-
-
1LossND
HAO1-
-
-
-
3GainND
HAPLN1p.Y301C
Missense
SNP
0.563
2-ND
HARS2p.E431K
Missense
SNP
0.521
2-ND
HBA1-
-
-
-
1LossND
HBA2-
-
-
-
1LossND
HBEGFp.P52S
Missense
SNP
0.502
2-ND
HBM-
-
-
-
1LossND
HBQ1-
-
-
-
1LossND
HBZ-
-
-
-
1LossND
HCFC1R1-
-
-
-
1LossND
HCK-
-
-
-
1LossND
HDAC10p.G294S
Missense
SNP
0.472
2-ND
HDAC11p.R287L
Missense
SNP
0.484
2-ND
HDAC4p.Q1032*
Nonsense
SNP
0.513
2-ND
HDAC5p.P664L
Missense
SNP
0.528
2-ND
HDAC9p.L18P
Missense
SNP
1.000
2-ND
HECTD3p.R450S
Missense
SNP
0.514
2-ND
HECW1p.E615A
Missense
SNP
1.000
2-ND
HELZp.A905T
Missense
SNP
0.455
2-ND
HELZ2p.P2168H
Missense
SNP
0.507
2-ND
HEPACAM2p.A84E
Missense
SNP
0.448
2-ND
HERC1p.P3538L
Missense
SNP
0.546
2-ND
HERC2p.R2568*
Nonsense
SNP
0.491
2-ND
HERC3p.S495P
Missense
SNP
0.505
2-ND
HEXAp.G261S
Missense
SNP
0.557
2-ND
HHIPL1p.C87Y
Missense
SNP
0.458
2-ND
HIC2p.L80I
Missense
SNP
0.466
2-ND
HIP1p.R620*
p.K527N
Nonsense
Missense
SNP
SNP
0.600
0.385
2-ND
HIPK3p.A694T
Missense
SNP
0.465
2-ND
HIPK4p.R343H
Missense
SNP
0.537
2-ND
HIRAp.K1017R
Missense
SNP
0.463
2-ND
HIRIP3p.Q225*
Nonsense
SNP
0.480
2-ND
HIST1H1Dp.A69T
Missense
SNP
0.449
2-ND
HIST2H3PS2-
-
-
-
1LossND
HIVEP3p.A1003V
Missense
SNP
0.523
2-ND
HKDC1p.D209E
Missense
SNP
0.534
2-ND
HM13-
-
-
-
1LossND
HMCN1p.Q4558H
Missense
SNP
0.375
2-ND
HOOK2p.R279Q
Missense
SNP
0.493
2-ND
HPS1p.P323H
Missense
SNP
0.486
2-ND
HS3ST4p.R273C
Missense
SNP
0.453
2-ND
HS3ST6-
-
-
-
1LossND
HS6ST3-
-
-
-
3GainND
HSD3B2p.P312L
Missense
SNP
0.458
2-ND
HSF4-
-
-
-
5AmpND
HSPA12B-
-
-
-
3GainND
HSPB7p.G69*
p.C35S
Nonsense
Missense
SNP
SNP
0.503
0.429
2-ND
HSPG2p.A3873V
p.C1668F
p.P1449Q
Missense
Missense
Missense
SNP
SNP
SNP
0.490
0.496
0.422
2-ND
IARSp.P351H
Missense
SNP
0.474
2-ND
ID1-
-
-
-
1LossND
ID4p.G21R
Missense
SNP
0.459
2-ND
IDH3B-
-
-
-
3GainND
IFT140-
-
-
-
1LossND
IGDCC4p.L183F
Missense
SNP
0.566
2-ND
IGFALS-
-
-
-
1LossND
IGLV3-22p.E99K
Missense
SNP
0.515
NDNDND
IL10RAp.D544Y
Missense
SNP
0.463
2-ND
IL17RBp.Y443N
Missense
SNP
0.444
2-ND
IL23Ap.C89Y
Missense
SNP
0.471
2-ND
IL32-
-
-
-
1LossND
IL4I1p.A48T
Missense
SNP
0.536
2-ND
IL6p.A86T
Missense
SNP
1.000
2-ND
IMMTp.A227S
Missense
SNP
0.369
2-ND
INAp.R130Q
Missense
SNP
0.464
2-ND
ING1-
-
-
-
3GainND
INO80p.P1072Q
Missense
SNP
0.481
2-ND
INSM1-
-
-
-
3GainND
INTS8p.V778M
Missense
SNP
0.460
2-ND
INVSp.G1011V
Missense
SNP
0.446
2-ND
IPO4p.A552V
Missense
SNP
0.504
2-ND
IPO5-
-
-
-
3GainND
IPO7p.R184H
Missense
SNP
0.492
2-ND
IRAK1p.G53R
Missense
SNP
0.533
NDNDND
IRF3p.A441T
Missense
SNP
0.436
2-ND
IRS2-
-
-
-
3GainND
IRX4p.C373Y
Missense
SNP
0.592
2-ND
IRX5p.S387P
Missense
SNP
0.594
2-ND
ISM1-
-
-
-
3GainND
ITCH-
-
-
-
1LossND
ITGA8p.A234V
Missense
SNP
0.524
2-ND
ITGA9-
-
-
-
3GainND
ITGB7p.L106P
Missense
SNP
0.511
2-ND
ITGBL1-
-
-
-
3GainND
ITIH5p.R487H
Missense
SNP
0.491
2-ND
ITPA-
-
-
-
3GainND
ITPKBp.T576A
Missense
SNP
0.570
2-ND
ITPR1p.R1057H
Missense
SNP
0.520
2-ND
ITPR2p.A68T
Missense
SNP
0.475
2-ND
ITPRIPL1p.P392H
Missense
SNP
0.455
2-ND
IVL-
-
-
-
1LossND
IWS1p.M355I
Missense
SNP
0.483
2-ND
JADE2p.R416W
Missense
SNP
0.508
2-ND
JAG1-
-
-
-
3GainND
JAK2p.V1042M
Missense
SNP
0.507
2-ND
JMJD8-
-
-
-
1LossND
JPT2-
-
-
-
1LossND
KALRNp.Q577*
Nonsense
SNP
0.513
2-ND
KANK2p.A368V
Missense
SNP
0.477
2-ND
KAT14-
-
-
-
3GainND
KAT8p.E20D
Missense
SNP
0.485
2-ND
KCNA3p.F314I
Missense
SNP
0.520
2-ND
KCNC1p.M414I
Missense
SNP
0.533
2-ND
KCNC3p.G252D
Missense
SNP
0.623
2-ND
KCND2p.R259H
p.S350L
Missense
Missense
SNP
SNP
0.509
0.449
2-ND
KCNG1p.G277C
Missense
SNP
0.430
2-ND
KCNG4p.A140T
Missense
SNP
0.459
2-ND
KCNH2p.A1124G
Missense
SNP
0.464
2-ND
KCNH4p.K641T
Missense
SNP
0.435
2-ND
KCNJ18p.R6G
Missense
SNP
0.466
2-ND
KCNK3p.Y192*
Nonsense
SNP
0.495
2-ND
KCNQ2p.R210C
Missense
SNP
0.535
2-ND
KCPp.A959V
Missense
SNP
0.503
2-ND
KCTD12-
-
-
-
3GainND
KCTD18p.P347T
Missense
SNP
0.453
2-ND
KCTD19-
-
-
-
5AmpND
KCTD5-
-
-
-
1LossND
KDELC1-
-
-
-
3GainND
KDM2Bp.V569L
Missense
SNP
0.478
2-ND
KDM3Bp.N351S
p.Q757*
Missense
Nonsense
SNP
SNP
0.495
0.493
2-ND
KDM4Bp.E205D
Missense
SNP
0.456
2-ND
KDM5Ap.V176L
Missense
SNP
0.494
2-ND
KDM6Bp.G216S
Missense
SNP
0.492
2-ND
KHSRPp.G669S
Missense
SNP
0.534
2-ND
KIAA0355p.W1020C
Missense
SNP
0.590
2-ND
KIAA0895L-
-
-
-
5AmpND
KIAA1217p.E1542K
Missense
SNP
0.464
2-ND
KIAA1549p.R1863Q
p.Q1726K
Missense
Missense
SNP
SNP
0.483
0.554
NDNDND
KIAA2022p.V1001I
Missense
SNP
0.442
NDNDND
KIF15p.S21T
p.T80S
Missense
Missense
SNP
SNP
0.426
0.521
2-ND
KIF16B-
-
-
-
3GainND
KIF21Ap.G911D
Missense
SNP
0.369
2-ND
KIF3B-
-
-
-
1LossND
KIFC1p.G127*
Nonsense
SNP
0.462
2-ND
KIR2DS4p.P183S
Missense
SNP
0.503
NDNDND
KIZ-
-
-
-
3GainND
KLF1p.C286Y
Missense
SNP
0.507
2-ND
KLF12-
-
-
-
3GainND
KLF5-
-
-
-
3GainND
KLF9p.R192H
Missense
SNP
0.487
2-ND
KLHL1-
-
-
-
3GainND
KLHL10p.Y599H
Missense
SNP
0.586
2-ND
KLHL25p.L399M
Missense
SNP
0.540
2-ND
KLHL42p.R382H
Missense
SNP
0.494
2-ND
KLHL9p.A541T
Missense
SNP
0.557
2-ND
KLRC1p.R22*
Nonsense
SNP
0.472
2-ND
KMT2Cp.I4674T
Missense
SNP
0.476
2-ND
KMT2Dp.E3237K
Missense
SNP
0.522
2-ND
KNDC1p.V543I
p.P1056S
Missense
Missense
SNP
SNP
0.538
0.489
2-ND
KREMEN2-
-
-
-
1LossND
KRT37p.V291M
Missense
SNP
0.494
2-ND
KRT71p.C93F
Missense
SNP
0.463
2-ND
KRT75p.L221F
Missense
SNP
0.449
2-ND
KRT9p.V253M
Missense
SNP
0.580
2-ND
KRTAP1-1-
-
-
-
1LossND
KRTAP1-3-
-
-
-
1LossND
KRTAP1-5-
-
-
-
1LossND
KRTAP10-1-
-
-
-
1LossND
KRTAP10-10-
-
-
-
1LossND
KRTAP10-11-
-
-
-
1LossND
KRTAP10-2-
-
-
-
1LossND
KRTAP10-3-
-
-
-
1LossND
KRTAP10-4-
-
-
-
1LossND
KRTAP10-5-
-
-
-
1LossND
KRTAP10-6-
-
-
-
1LossND
KRTAP10-7-
-
-
-
1LossND
KRTAP10-8-
-
-
-
1LossND
KRTAP10-9-
-
-
-
1LossND
KRTAP12-4-
-
-
-
1LossND
KRTAP3-1-
-
-
-
1LossND
KRTAP3-2-
-
-
-
1LossND
KRTAP3-3-
-
-
-
1LossND
KRTAP4-1-
-
-
-
1LossND
KRTAP4-11-
-
-
-
1LossND
KRTAP4-12-
-
-
-
1LossND
KRTAP4-16-
-
-
-
1LossND
KRTAP4-2-
-
-
-
1LossND
KRTAP4-3-
-
-
-
1LossND
KRTAP4-4-
-
-
-
1LossND
KRTAP4-6-
-
-
-
1LossND
KRTAP4-7-
-
-
-
1LossND
KRTAP4-8-
-
-
-
1LossND
KRTAP4-9-
-
-
-
1LossND
KRTAP9-1-
-
-
-
1LossND
KRTAP9-2-
-
-
-
1LossND
KRTAP9-3-
-
-
-
1LossND
KRTAP9-4-
-
-
-
1LossND
KRTAP9-7-
-
-
-
1LossND
KRTAP9-8-
-
-
-
1LossND
KRTAP9-9-
-
-
-
1LossND
KYp.S250F
Missense
SNP
0.540
2-ND
KYAT1p.F28L
Missense
SNP
0.514
2-ND
LAMA4p.A558V
Missense
SNP
0.474
2-ND
LAMB2p.V362I
Missense
SNP
0.440
2-ND
LAMP1-
-
-
-
3GainND
LAMP5-
-
-
-
3GainND
LARGE1p.R526C
Missense
SNP
0.433
2-ND
LARP1Bp.D764Y
Missense
SNP
0.500
2-ND
LARP4p.V375L
Missense
SNP
0.442
2-ND
LARS2p.H145N
Missense
SNP
0.431
2-ND
LCE1A-
-
-
-
1LossND
LCE1B-
-
-
-
1LossND
LCE1C-
-
-
-
1LossND
LCE1E-
-
-
-
1LossND
LCE1F-
-
-
-
1LossND
LCE6A-
-
-
-
1LossND
LCMT2p.T459N
Missense
SNP
0.497
2-ND
LCORp.S967R
Missense
SNP
0.515
2-ND
LCP1p.K97N
Missense
SNP
0.430
2-ND
LENG8p.P543L
Missense
SNP
0.427
2-ND
LGI2p.T338M
Missense
SNP
0.497
2-ND
LGSNp.G427R
Missense
SNP
0.453
2-ND
LHCGRp.S171Y
Missense
SNP
0.524
2-ND
LHX5p.V401M
Missense
SNP
0.532
2-ND
LIG4-
-
-
-
3GainND
LILRA5p.H208N
Missense
SNP
0.593
2-ND
LINGO3p.A39T
Missense
SNP
0.482
2-ND
LIPEp.G264*
Nonsense
SNP
0.405
2-ND
LITAFp.S60L
Missense
SNP
0.485
2-ND
LMF1-
-
-
-
1LossND
LMO7-
-
-
-
3GainND
LOXL1p.P312T
Missense
SNP
0.529
2-ND
LPAR2p.V207G
Missense
SNP
0.454
2-ND
LRCH1p.P136H
Missense
SNP
0.440
2-ND
LRFN1p.P401L
Missense
SNP
0.568
2-ND
LRFN5p.R253H
Missense
SNP
0.499
NDNDND
LRP1Bp.A2762V
Missense
SNP
0.507
2-ND
LRP2p.D1293E
Missense
SNP
0.575
2-ND
LRP4p.R886*
Nonsense
SNP
0.510
2-ND
LRRC15p.L215F
Missense
SNP
0.467
2-ND
LRRC29-
-
-
-
5AmpND
LRRN4-
-
-
-
3GainND
LRRTM2p.S189G
Missense
SNP
0.474
2-ND
LRWD1p.S253L
Missense
SNP
0.483
2-ND
LSAMPp.R52W
Missense
SNP
0.445
2-ND
LSM10p.Q25K
Missense
SNP
0.508
2-ND
LSM4p.G116D
Missense
SNP
0.498
2-ND
LTBP2p.H1316N
Missense
SNP
0.500
2-ND
LUC7L-
-
-
-
1LossND
LZTS3-
-
-
-
3GainND
MACROD2-
-
-
-
3GainND
MAGEA6p.P262L
Missense
SNP
0.448
NDNDND
MAGEE1p.R11C
Missense
SNP
0.441
NDNDND
MAMDC4p.H590N
Missense
SNP
0.526
2-ND
MAP1LC3A-
-
-
-
1LossND
MAP2K5p.S133N
Missense
SNP
0.429
2-ND
MAP3K4p.L1433M
Missense
SNP
0.540
2-ND
MAP7D1p.E2K
Missense
SNP
0.391
2-ND
MAPK8IP3-
-
-
-
1LossND
MAPRE1-
-
-
-
1LossND
MATN1p.L402I
p.V149F
Missense
Missense
SNP
SNP
0.491
0.384
2-ND
MATN4p.A564S
Missense
SNP
0.580
2-ND
MAVS-
-
-
-
3GainND
MBNL2-
-
-
-
3GainND
MC5Rp.C131Y
Missense
SNP
0.474
2-ND
MCAMp.L94F
Missense
SNP
0.527
2-ND
MCF2L-
-
-
-
3GainND
MCM4-
-
-
-
1LossND
MCM5p.R724C
Missense
SNP
0.492
2-ND
MCM8-
-
-
-
3GainND
MCRIP2-
-
-
-
1LossND
MCTS2P-
-
-
-
1LossND
MEFV-
-
-
-
1LossND
MEGF10p.P256L
Missense
SNP
0.512
2-ND
MEIOB-
-
-
-
1LossND
MELKp.C339Y
Missense
SNP
0.425
2-ND
MESP2p.D38Y
Missense
SNP
0.516
2-ND
METRN-
-
-
-
1LossND
METTL21C-
-
-
-
3GainND
METTL26-
-
-
-
1LossND
MFFp.S223F
Missense
SNP
0.511
2-ND
MGAT5p.H627N
Missense
SNP
0.535
2-ND
MGME1-
-
-
-
3GainND
MICAL1p.Q538K
Missense
SNP
0.516
2-ND
MICAL3p.S1444T
p.A826T
Missense
Missense
SNP
SNP
0.418
0.505
2-ND
MICU2p.V401A
Missense
SNP
0.594
2-ND
MIER3p.V418L
Missense
SNP
0.479
2-ND
MIPEPp.R24Q
Missense
SNP
0.398
2-ND
MKKS-
-
-
-
3GainND
MLLT6p.Q916K
p.G918D
Missense
Missense
SNP
SNP
0.536
0.521
2-ND
MLST8-
-
-
-
1LossND
MMP16p.V562M
Missense
SNP
0.473
2-ND
MMP24-
-
-
-
1LossND
MMP25-
-
-
-
1LossND
MOGSp.G181R
Missense
SNP
0.464
2-ND
MON1B.
Splice_Site
SNP
0.467
2-ND
MORC2p.R608H
Missense
SNP
0.513
2-ND
MOSPD2p.D220G
Missense
SNP
0.396
NDNDND
MPG-
-
-
-
1LossND
MPP2p.R201H
Missense
SNP
0.450
2-ND
MPRIPp.C103*
Nonsense
SNP
0.433
2-ND
MRC1p.S815N
p.I1394S
Missense
Missense
SNP
SNP
0.447
0.459
2-ND
MRPL28-
-
-
-
1LossND
MRPL32p.A15T
Missense
SNP
1.000
2-ND
MRPS26-
-
-
-
3GainND
MRPS34-
-
-
-
1LossND
MSANTD3p.Q209H
Missense
SNP
0.461
2-ND
MSH2p.A609D
Missense
SNP
0.456
2-ND
MSLN-
-
-
-
1LossND
MSLNL-
-
-
-
1LossND
MSRB1-
-
-
-
1LossND
MTCL1p.M1276I
Missense
SNP
0.438
2-ND
MTDHp.P241T
Missense
SNP
0.414
2-ND
MTFR1Lp.H88N
Missense
SNP
0.534
2-ND
MTMR4p.D1069G
Missense
SNP
0.431
2-ND
MTTPp.S822T
Missense
SNP
0.527
2-ND
MTUS2p.C603Y
Missense
SNP
0.510
2-ND
MUC12p.Q5326H
Missense
SNP
0.514
2-ND
MUC16p.T13507R
p.P5244Q
p.S634Y
Missense
Missense
Missense
SNP
SNP
SNP
0.559
0.422
0.500
2-ND
MUC5ACp.K488N
Missense
SNP
0.493
2-ND
MUC5Bp.I4778N
p.V5146I
Missense
Missense
SNP
SNP
0.450
0.494
2-ND
MX2p.G111D
Missense
SNP
0.511
2-ND
MYBPC2p.V575I
Missense
SNP
0.494
2-ND
MYCBP2-
-
-
-
3GainND
MYH11p.T1019M
Missense
SNP
0.459
2-ND
MYH7B-
-
-
-
1LossND
MYLK2-
-
-
-
1LossND
MYO10p.D1086Y
p.A745V
Missense
Missense
SNP
SNP
0.435
0.488
2-ND
MYO16-
-
-
-
3GainND
MYO18Bp.K1334N
Missense
SNP
0.540
2-ND
MYO1Hp.S468N
Missense
SNP
0.493
2-ND
MYO5Bp.A1759V
Missense
SNP
1.000
2-ND
MYO9Bp.A1054E
p.S2049L
Missense
Missense
SNP
SNP
0.495
0.548
2-ND
MYOD1p.S289N
Missense
SNP
0.552
2-ND
MYOFp.P1364H
Missense
SNP
0.383
2-ND
MYRFp.C396Y
Missense
SNP
0.500
2-ND
MZF1p.R391H
Missense
SNP
0.549
2-ND
MZT1-
-
-
-
3GainND
N4BP1p.Q803H
Missense
SNP
0.500
2-ND
NAA20-
-
-
-
3GainND
NAA60-
-
-
-
1LossND
NALCN-
-
-
-
3GainND
NANP-
-
-
-
3GainND
NAP1L1p.A322V
Missense
SNP
0.637
2-ND
NAP1L3p.V414M
Missense
SNP
0.540
NDNDND
NAP1L5p.M176V
Missense
SNP
0.445
2-ND
NAPB-
-
-
-
3GainND
NAT8p.A2V
Missense
SNP
0.419
2-ND
NAXD-
-
-
-
3GainND
NBEAL2p.M568V
Missense
SNP
0.462
2-ND
NBPF15-
-
-
-
1LossND
NBPF20-
-
-
-
1LossND
NCAM2p.D834N
Missense
SNP
0.374
2-ND
NCOA6-
-
-
-
1LossND
NCOR1p.D1579N
Missense
SNP
0.442
2-ND
NDFIP2-
-
-
-
3GainND
NDUFA10p.A196T
Missense
SNP
0.444
2-ND
NDUFAB1p.Q49*
Nonsense
SNP
0.500
2-ND
NDUFAF5-
-
-
-
3GainND
NDUFB10-
-
-
-
1LossND
NEBp.A1083V
Missense
SNP
0.640
2-ND
NECAB3-
-
-
-
1LossND
NEK3-
-
-
-
3GainND
NEK4-
-
-
-
3GainND
NEK5p.P682L
Missense
SNP
0.355
3GainND
NFRKBp.S353L
Missense
SNP
0.505
2-ND
NFS1-
-
-
-
1LossND
NHLRC4-
-
-
-
1LossND
NHSp.A736T
p.R1561*
Missense
Nonsense
SNP
SNP
0.459
0.490
NDNDND
NINL-
-
-
-
3GainND
NIPBLp.X1809_splice
Splice_Site
SNP
0.530
2-ND
NKX2-1p.P307L
Missense
SNP
0.614
2-ND
NKX2-2-
-
-
-
3GainND
NKX2-4-
-
-
-
3GainND
NKX2-5p.Q22P
Missense
SNP
0.538
2-ND
NKX3-2p.A277T
Missense
SNP
0.493
2-ND
NLRC3-
-
-
-
1LossND
NLRX1p.R9K
p.G971E
Missense
Missense
SNP
SNP
0.600
0.519
2-ND
NME3-
-
-
-
1LossND
NME4-
-
-
-
1LossND
NME6p.R116C
Missense
SNP
0.535
2-ND
NOBOXp.R315C
Missense
SNP
0.446
2-ND
NOL3-
-
-
-
5AmpND
NOL4L-
-
-
-
1LossND
NOL6p.T838I
Missense
SNP
0.552
2-ND
NOP56-
-
-
-
3GainND
NOTCH1p.D909N
Missense
SNP
0.505
2-ND
NOVA2p.A100V
Missense
SNP
0.484
2-ND
NOXO1-
-
-
-
1LossND
NPHP4p.V1007M
Missense
SNP
0.584
2-ND
NPR1p.G537S
Missense
SNP
0.370
2-ND
NPRL3-
-
-
-
1LossND
NPTNp.N284K
Missense
SNP
0.433
2-ND
NPTX1p.T71I
Missense
SNP
0.490
2-ND
NPW-
-
-
-
1LossND
NR4A1p.G512S
Missense
SNP
0.521
2-ND
NR4A2p.F489L
Missense
SNP
0.512
2-ND
NR4A3p.P274S
Missense
SNP
0.484
2-ND
NR5A2p.T25M
Missense
SNP
0.430
2-ND
NRROSp.C9F
Missense
SNP
0.480
2-ND
NRSN2-
-
-
-
3GainND
NRXN1p.Q692*
Nonsense
SNP
0.473
2-ND
NRXN2p.L1347M
Missense
SNP
0.505
2-ND
NSD1p.K1271N
Missense
SNP
0.359
2-ND
NSFL1C-
-
-
-
3GainND
NT5C1Bp.S445T
Missense
SNP
0.408
2-ND
NTHL1-
-
-
-
1LossND
NTN3-
-
-
-
1LossND
NUBP2-
-
-
-
1LossND
NUCB2p.D93N
Missense
SNP
0.521
2-ND
NUP153p.V584F
p.N109D
Missense
Missense
SNP
SNP
0.468
0.533
2-ND
NUP188p.L333P
Missense
SNP
0.460
2-ND
NXT1-
-
-
-
3GainND
NYAP2p.T356I
Missense
SNP
0.504
2-ND
OBP2Ap.R123H
Missense
SNP
0.506
2-ND
OBSCNp.G5102C
p.X5386_splice
Missense
Splice_Site
SNP
SNP
0.547
0.437
2-ND
OBSL1p.R1538K
Missense
SNP
0.431
2-ND
OCA2p.V490A
p.T387M
Missense
Missense
SNP
SNP
0.549
0.519
2-ND
OGDHLp.L833M
Missense
SNP
0.493
2-ND
OLFM4-
-
-
-
3GainND
OPN5p.R13C
p.K252E
Missense
Missense
SNP
SNP
0.312
0.500
2-ND
OPRL1p.R368W
Missense
SNP
0.566
2-ND
OR12D3p.V200I
Missense
SNP
0.487
2-ND
OR13J1p.T74M
Missense
SNP
0.480
2-ND
OR1F1-
-
-
-
1LossND
OR2AJ1p.A117V
Missense
SNP
0.562
2-ND
OR2C1-
-
-
-
1LossND
OR52E5p.A192V
Missense
SNP
0.493
2-ND
OR56A5p.P272L
Missense
SNP
0.494
2-ND
OR5B17p.S201L
Missense
SNP
0.550
2-ND
OSTM1p.T6I
Missense
SNP
0.635
2-ND
OTOFp.T286I
Missense
SNP
0.469
2-ND
OTOP3p.A7S
Missense
SNP
0.524
2-ND
OTOR-
-
-
-
3GainND
OVOL2-
-
-
-
3GainND
OXGR1-
-
-
-
3GainND
OXT-
-
-
-
3GainND
P3H1p.A166T
Missense
SNP
0.502
2-ND
P4HA1p.R336C
Missense
SNP
0.376
2-ND
PABPC5p.G178D
Missense
SNP
0.498
NDNDND
PABPN1Lp.G44C
Missense
SNP
0.513
2-ND
PADI1p.D260Y
Missense
SNP
0.520
2-ND
PAK5-
-
-
-
3GainND
PAMp.Q513K
Missense
SNP
0.442
2-ND
PANK2-
-
-
-
3GainND
PAPPA2p.D597N
p.G1549S
Missense
Missense
SNP
SNP
0.452
0.480
2-ND
PAQR4-
-
-
-
1LossND
PARD3p.G600S
p.L464F
Missense
Missense
SNP
SNP
0.519
0.385
2-ND
PARD6Ap.S205N
Missense
SNP
0.476
2-ND
PARP12p.S382N
Missense
SNP
0.481
NDNDND
PAX1-
-
-
-
3GainND
PAX4p.C317Y
Missense
SNP
0.448
2-ND
PCCA-
-
-
-
3GainND
PCDH12p.T999I
Missense
SNP
0.500
2-ND
PCDH17p.G177S
p.T423M
p.A593T
p.E746K
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.291
0.299
0.356
0.346
5AmpND
PCDH20-
-
-
-
3GainND
PCDH8p.L455M
Missense
SNP
0.346
3GainND
PCDH9-
-
-
-
5AmpND
PCDHA11p.D237N
Missense
SNP
0.474
2-ND
PCDHA6p.T662M
Missense
SNP
0.504
2-ND
PCDHA7p.A519T
Missense
SNP
0.429
2-ND
PCDHA8p.R415H
Missense
SNP
0.531
2-ND
PCDHB2p.S36P
Missense
SNP
0.612
2-ND
PCDHB4p.I311N
Missense
SNP
0.516
2-ND
PCDHGA10p.G16R
Missense
SNP
0.570
2-ND
PCDHGA9p.S618W
Missense
SNP
0.539
2-ND
PCDHGB6p.A516V
Missense
SNP
0.482
2-ND
PCDHGB7p.I319V
Missense
SNP
0.505
2-ND
PCED1A-
-
-
-
3GainND
PCED1Bp.R90C
Missense
SNP
0.526
2-ND
PCID2-
-
-
-
3GainND
PCNAp.L47V
Missense
SNP
0.298
3GainND
PCNX2p.C874F
Missense
SNP
0.461
2-ND
PCSK2-
-
-
-
3GainND
PDCD4p.L9P
Missense
SNP
0.543
2-ND
PDE3Bp.Q646H
Missense
SNP
0.385
2-ND
PDE4Dp.A272T
Missense
SNP
0.412
2-ND
PDIA2-
-
-
-
1LossND
PDPK1-
-
-
-
1LossND
PDRG1-
-
-
-
1LossND
PDS5Ap.P946T
Missense
SNP
0.437
2-ND
PDS5Bp.A1053S
p.S1319T
Missense
Missense
SNP
SNP
0.432
0.487
2-ND
PDX1p.R278W
Missense
SNP
0.523
2-ND
PDYN-
-
-
-
3GainND
PEBP1p.E126K
Missense
SNP
0.511
2-ND
PEG3p.L700F
Missense
SNP
0.506
2-ND
PELI2p.A173T
Missense
SNP
0.587
2-ND
PENKp.D225N
Missense
SNP
0.552
2-ND
PER1p.R846K
Missense
SNP
0.454
2-ND
PET117p.G22D
Missense
SNP
0.296
3GainND
PGLYRP2p.R319Q
Missense
SNP
0.558
2-ND
PGP-
-
-
-
1LossND
PHF20-
-
-
-
1LossND
PIBF1-
-
-
-
3GainND
PIEZO2p.X1480_splice
Splice_Site
SNP
1.000
2-ND
PIGQ-
-
-
-
1LossND
PIGU-
-
-
-
1LossND
PIGZp.L550M
Missense
SNP
1.000
2-ND
PIK3C3p.E876D
Missense
SNP
0.468
2-ND
PIK3R6p.P161L
Missense
SNP
0.541
2-ND
PIM3p.R59H
Missense
SNP
0.531
2-ND
PITPNM1p.D289N
Missense
SNP
0.523
2-ND
PITX1p.G299C
Missense
SNP
0.471
2-ND
PJA1p.Q47K
Missense
SNP
0.526
NDNDND
PKD1-
-
-
-
1LossND
PKD1L3p.E1139*
Nonsense
SNP
0.522
2-ND
PKMYT1-
-
-
-
1LossND
PKN3p.G269R
Missense
SNP
0.490
2-ND
PLA2G4A-
-
-
-
3GainND
PLA2G4Dp.Q793K
Missense
SNP
0.526
2-ND
PLAGL2-
-
-
-
1LossND
PLB1p.V1420F
Missense
SNP
0.508
2-ND
PLCB1-
-
-
-
3GainND
PLCB4-
-
-
-
3GainND
PLCL1p.C740F
Missense
SNP
0.483
2-ND
PLCZ1p.L219I
Missense
SNP
0.490
2-ND
PLEC-
-
-
-
3GainND
PLEKHA6p.G211C
Missense
SNP
0.525
2-ND
PLEKHG1p.R688M
Missense
SNP
0.476
2-ND
PLEKHG4p.R929*
Nonsense
SNP
0.726
5AmpND
PLPP2p.P7T
Missense
SNP
0.486
2-ND
PLPPR5p.T23M
Missense
SNP
0.458
2-ND
PLXNB2p.T1726M
Missense
SNP
0.540
2-ND
PLXNB3p.A886S
Missense
SNP
0.609
NDNDND
PNMA1p.S194F
Missense
SNP
0.482
2-ND
POFUT1-
-
-
-
1LossND
POLA1p.V1169A
Missense
SNP
0.403
NDNDND
POLD1p.T473M
Missense
SNP
0.446
2-ND
POLG2p.K83N
Missense
SNP
0.494
2-ND
POLR3F-
-
-
-
3GainND
POLR3K-
-
-
-
1LossND
POM121L12-
-
-
-
3GainND
POMGNT2p.G358W
Missense
SNP
0.513
2-ND
POMKp.Q4H
Missense
SNP
0.405
2-ND
POU4F1-
-
-
-
3GainND
POU5F1Bp.P53Q
Missense
SNP
0.500
2-ND
PPM1Ep.H275N
Missense
SNP
0.439
2-ND
PPP1R10p.P661Q
Missense
SNP
0.471
2-ND
PPP1R13Lp.A745T
Missense
SNP
0.543
2-ND
PPP1R9Ap.V403M
Missense
SNP
0.553
2-ND
PPP2R5Bp.L358P
Missense
SNP
0.483
2-ND
PPRC1p.P604H
Missense
SNP
0.466
2-ND
PRAMEF12p.P38Q
Missense
SNP
0.505
2-ND
PRCPp.C364Y
Missense
SNP
0.507
2-ND
PRDM12p.H323Y
Missense
SNP
0.557
2-ND
PRDM13p.E174Q
Missense
SNP
0.422
2-ND
PRDM15p.G381C
Missense
SNP
0.573
2-ND
PRDM2p.P902S
Missense
SNP
0.491
2-ND
PRICKLE2p.E721V
Missense
SNP
0.475
2-ND
PRKCBp.G351C
Missense
SNP
0.485
2-ND
PRKCHp.V485I
Missense
SNP
0.486
2-ND
PRND-
-
-
-
3GainND
PRNP-
-
-
-
3GainND
PROB1p.P697L
Missense
SNP
0.492
2-ND
PROCR-
-
-
-
1LossND
PROKR2-
-
-
-
3GainND
PROM1p.A772T
p.Q22H
Missense
Missense
SNP
SNP
0.526
0.514
2-ND
PROZ-
-
-
-
3GainND
PRPF6p.R503H
Missense
SNP
0.483
2-ND
PRR23D1-
-
-
-
1LossND
PRR23D2-
-
-
-
1LossND
PRR35-
-
-
-
1LossND
PRRC2Cp.K1712R
Missense
SNP
0.558
2-ND
PRRG3p.R19C
Missense
SNP
0.500
NDNDND
PRRT4p.R669H
Missense
SNP
0.537
2-ND
PRSS21-
-
-
-
1LossND
PRSS22-
-
-
-
1LossND
PRSS27-
-
-
-
1LossND
PRSS33-
-
-
-
1LossND
PRSS41-
-
-
-
1LossND
PRTGp.E398A
Missense
SNP
0.392
2-ND
PSG1-
-
-
-
1LossND
PSG11-
-
-
-
1LossND
PSG2-
-
-
-
1LossND
PSG4-
-
-
-
1LossND
PSG5-
-
-
-
1LossND
PSG6-
-
-
-
1LossND
PSG7-
-
-
-
1LossND
PSG8-
-
-
-
1LossND
PSMB8p.P20Q
Missense
SNP
0.526
2-ND
PSMF1-
-
-
-
3GainND
PSPC1p.R290H
Missense
SNP
0.511
2-ND
PSTPIP1p.Y287C
Missense
SNP
0.462
2-ND
PTK7p.G816W
Missense
SNP
0.393
2-ND
PTPN13p.R1222C
Missense
SNP
0.463
2-ND
PTPRA-
-
-
-
3GainND
PTPRCAPp.R94Q
Missense
SNP
0.450
2-ND
PTPRN2p.G479V
Missense
SNP
0.560
2-ND
PTPRTp.Y912C
Missense
SNP
0.460
2-ND
PTPRUp.G994D
Missense
SNP
0.470
2-ND
PTX4-
-
-
-
1LossND
PVRIGp.R217Q
Missense
SNP
0.426
2-ND
PWP1p.P58H
Missense
SNP
0.460
2-ND
PWWP2Ap.G396S
Missense
SNP
0.484
2-ND
PXKp.H340N
Missense
SNP
0.424
2-ND
PXMP4-
-
-
-
1LossND
PYGB-
-
-
-
3GainND
PYGLp.F327I
Missense
SNP
0.439
2-ND
PZPp.V1354M
Missense
SNP
0.566
2-ND
RAB11FIP3-
-
-
-
1LossND
RAB17p.R6K
Missense
SNP
0.507
2-ND
RAB20-
-
-
-
3GainND
RAB26-
-
-
-
1LossND
RAB36p.G46C
Missense
SNP
0.554
2-ND
RAB40C-
-
-
-
1LossND
RAB42p.G101S
Missense
SNP
0.532
2-ND
RAD21L1-
-
-
-
3GainND
RAD50p.E1029G
Missense
SNP
0.382
2-ND
RAG1p.A824S
Missense
SNP
0.451
2-ND
RAI1p.S1059F
Missense
SNP
0.494
2-ND
RALGAPA2-
-
-
-
3GainND
RALY-
-
-
-
1LossND
RANBP3p.A525V
Missense
SNP
0.521
2-ND
RAP2A-
-
-
-
3GainND
RARGp.D340Y
Missense
SNP
0.457
2-ND
RASA3-
-
-
-
3GainND
RASAL1p.C134F
Missense
SNP
0.434
2-ND
RASL10Bp.A194V
Missense
SNP
0.459
2-ND
RASSF2-
-
-
-
3GainND
RASSF4p.R154H
Missense
SNP
0.519
2-ND
RBBP9-
-
-
-
3GainND
RBCK1-
-
-
-
3GainND
RBM12-
-
-
-
1LossND
RBM14p.X601_splice
Splice_Site
SNP
0.479
2-ND
RBM26-
-
-
-
3GainND
RBM39-
-
-
-
1LossND
RCBTB2p.M223I
Missense
SNP
0.526
2-ND
RDXp.S243N
Missense
SNP
0.707
2-ND
RECQL4p.Q277*
Nonsense
SNP
0.525
2-ND
REEP2p.A130V
Missense
SNP
0.511
2-ND
REEP3p.R8I
Missense
SNP
0.557
2-ND
REM1-
-
-
-
1LossND
RFC1p.N888K
Missense
SNP
0.390
2-ND
RFX5p.P288H
Missense
SNP
0.600
2-ND
RGL2p.P220H
Missense
SNP
0.513
2-ND
RGPD1-
-
-
-
0DelND
RGPD2-
-
-
-
0DelND
RGS11p.S331G
Missense
SNP
1.000
1LossND
RGS12p.P13H
Missense
SNP
0.430
2-ND
RGS20p.M360I
Missense
SNP
0.515
2-ND
RHBDF1-
-
-
-
1LossND
RHBDL1-
-
-
-
1LossND
RHOBTB1p.A512V
Missense
SNP
0.497
2-ND
RHOT2-
-
-
-
1LossND
RIC1p.S634T
Missense
SNP
0.475
2-ND
RIMBP2p.R341H
Missense
SNP
0.486
2-ND
RIMS2p.A16T
Missense
SNP
0.545
2-ND
RIMS3p.R293C
Missense
SNP
0.378
2-ND
RIN2-
-
-
-
3GainND
RLIMp.G504S
Missense
SNP
0.514
NDNDND
RNASELp.H263Y
Missense
SNP
0.497
2-ND
RNF113B-
-
-
-
3GainND
RNF139p.H413D
Missense
SNP
0.490
2-ND
RNF151p.P13L
p.R175C
Missense
Missense
SNP
SNP
1.000
0.991
1LossND
RNF20p.V266I
Missense
SNP
0.463
2-ND
RNF219-
-
-
-
3GainND
RNF24-
-
-
-
3GainND
RNF26p.C383Y
Missense
SNP
0.475
2-ND
RNF40p.A337S
Missense
SNP
0.424
2-ND
RNPS1-
-
-
-
1LossND
ROMO1-
-
-
-
1LossND
ROR1p.P809S
Missense
SNP
0.454
2-ND
RP11-350O14.18p.Q33R
Missense
SNP
0.526
NDNDND
RPGRIP1p.V1211L
Missense
SNP
0.475
2-ND
RPL24p.X2_splice
Splice_Site
SNP
0.446
2-ND
RPL3L-
-
-
-
1LossND
RPS2-
-
-
-
1LossND
RPS6KA1p.R735L
Missense
SNP
0.418
2-ND
RPS6KC1p.G244R
Missense
SNP
0.424
2-ND
RPUSD1-
-
-
-
1LossND
RRBP1-
-
-
-
3GainND
RRM1p.E586D
Missense
SNP
0.349
2-ND
RRP12p.A873T
Missense
SNP
0.529
2-ND
RSPO4-
-
-
-
3GainND
RYR2p.R1086Q
p.D4112N
Missense
Missense
SNP
SNP
0.462
0.480
2-ND
RYR3p.A1567E
Missense
SNP
0.505
2-ND
SACSp.G2041D
Missense
SNP
0.460
2-ND
SAE1p.E97*
Nonsense
SNP
0.620
2-ND
SAFBp.G104R
Missense
SNP
0.416
2-ND
SALL2p.Q206K
p.S20G
Missense
Missense
SNP
SNP
0.477
0.497
2-ND
SAMD9Lp.P165Q
Missense
SNP
0.415
2-ND
SARS2p.L376F
Missense
SNP
0.429
2-ND
SATB2p.R46K
Missense
SNP
0.625
2-ND
SC5Dp.A83E
Missense
SNP
0.438
2-ND
SCAND1-
-
-
-
1LossND
SCEL-
-
-
-
3GainND
SCG5p.R181T
Missense
SNP
0.444
2-ND
SCGB2A2p.A110D
Missense
SNP
0.444
2-ND
SCGNp.X211_splice
Splice_Site
SNP
0.477
2-ND
SCN10Ap.F1567S
Missense
SNP
0.507
2-ND
SCN4Ap.C1209F
Missense
SNP
0.511
2-ND
SCN8Ap.T1938I
Missense
SNP
0.467
2-ND
SCN9Ap.Q1896K
Missense
SNP
0.369
2-ND
SCP2D1-
-
-
-
3GainND
SCRT2-
-
-
-
3GainND
SCUBE1p.D74E
Missense
SNP
0.481
2-ND
SDCBP2-
-
-
-
3GainND
SEC16Bp.G488D
Missense
SNP
0.471
2-ND
SEC23B-
-
-
-
3GainND
SEL1Lp.Y493C
Missense
SNP
0.464
2-ND
SEL1L2-
-
-
-
3GainND
SEL1L3p.P241H
Missense
SNP
0.500
2-ND
SEMA3Bp.H368Y
Missense
SNP
0.484
2-ND
SEMA3Cp.R684M
Missense
SNP
0.396
2-ND
SEMA3Ep.C602F
Missense
SNP
0.499
2-ND
SEMA6Bp.X330_splice
Splice_Site
SNP
0.464
2-ND
SEMA7Ap.N595I
Missense
SNP
0.494
2-ND
SEPT3p.R280Q
Missense
SNP
0.530
2-ND
SERINC2p.C35Y
Missense
SNP
0.425
2-ND
SERINC5p.A278T
Missense
SNP
0.452
2-ND
SERPINA1p.A86T
Missense
SNP
0.434
2-ND
SERPINA12p.V308A
Missense
SNP
0.404
2-ND
SETD1Bp.R902W
Missense
SNP
0.513
2-ND
SFMBT2p.R691W
Missense
SNP
0.434
2-ND
SFPQp.D517N
Missense
SNP
0.429
2-ND
SFSWAPp.S282G
Missense
SNP
0.520
2-ND
SGK1p.C68*
Nonsense
SNP
0.445
2-ND
SGK494p.W195*
Nonsense
SNP
0.483
2-ND
SH3BP2p.Y568H
Missense
SNP
0.409
2-ND
SH3GL2p.K12E
Missense
SNP
0.473
2-ND
SHANK3p.R1598W
Missense
SNP
0.439
2-ND
SHISA3p.L10I
Missense
SNP
0.527
2-ND
SHLD1-
-
-
-
3GainND
SIAEp.G185S
Missense
SNP
0.527
2-ND
SIGLEC1-
-
-
-
3GainND
SIGLEC11p.A571V
Missense
SNP
0.494
2-ND
SIGLEC14p.K291N
Missense
SNP
0.374
2-ND
SIM2p.H655Y
Missense
SNP
0.455
2-ND
SIRPA-
-
-
-
3GainND
SIRPB1-
-
-
-
3GainND
SIRPB2-
-
-
-
3GainND
SIRPD-
-
-
-
3GainND
SIRPG-
-
-
-
3GainND
SIX5p.E45A
Missense
SNP
0.368
2-ND
SKOR2p.R459G
Missense
SNP
0.481
2-ND
SLAIN1-
-
-
-
3GainND
SLAMF8p.R51*
Nonsense
SNP
0.514
2-ND
SLC10A2-
-
-
-
3GainND
SLC10A7p.L92P
Missense
SNP
0.488
2-ND
SLC11A2p.A348T
Missense
SNP
0.425
2-ND
SLC15A1-
-
-
-
3GainND
SLC18B1p.T165R
Missense
SNP
0.476
2-ND
SLC1A1p.R93C
Missense
SNP
0.483
2-ND
SLC1A4p.P270H
Missense
SNP
0.434
2-ND
SLC22A25p.X429_splice
Splice_Site
SNP
0.576
2-ND
SLC23A2-
-
-
-
3GainND
SLC24A3-
-
-
-
3GainND
SLC26A4p.T99M
Missense
SNP
0.440
2-ND
SLC27A6p.L448M
Missense
SNP
0.576
2-ND
SLC29A2p.H379N
Missense
SNP
0.467
2-ND
SLC29A3p.R299H
Missense
SNP
0.538
2-ND
SLC35A1p.A108T
Missense
SNP
0.467
2-ND
SLC38A7p.R365W
Missense
SNP
0.564
2-ND
SLC43A3p.G243C
Missense
SNP
0.432
2-ND
SLC4A11-
-
-
-
3GainND
SLC4A3p.S453I
Missense
SNP
0.519
2-ND
SLC52A3-
-
-
-
3GainND
SLC9A3R2-
-
-
-
1LossND
SLC9A5-
-
-
-
5AmpND
SLIT1p.G1156S
Missense
SNP
0.482
2-ND
SLIT2p.I527N
Missense
SNP
0.486
2-ND
SLITRK1-
-
-
-
3GainND
SLITRK2p.T494M
Missense
SNP
0.540
NDNDND
SLITRK5-
-
-
-
3GainND
SLITRK6-
-
-
-
3GainND
SLX4-
-
-
-
1LossND
SLX4IP-
-
-
-
3GainND
SMCP-
-
-
-
1LossND
SMIM26-
-
-
-
3GainND
SMOX-
-
-
-
3GainND
SNAP25-
-
-
-
3GainND
SNPH-
-
-
-
3GainND
SNRNP200p.W1275L
Missense
SNP
0.625
2-ND
SNRNP25-
-
-
-
1LossND
SNRPB-
-
-
-
3GainND
SNRPB2-
-
-
-
3GainND
SNTA1-
-
-
-
1LossND
SNTG1p.S47C
Missense
SNP
0.554
2-ND
SNX5-
-
-
-
3GainND
SOBPp.N423K
Missense
SNP
0.505
2-ND
SOGA3p.R435C
Missense
SNP
0.438
2-ND
SORL1p.X508_splice
Splice_Site
SNP
0.396
2-ND
SOX1-
-
-
-
3GainND
SOX12-
-
-
-
3GainND
SOX21-
-
-
-
3GainND
SOX8-
-
-
-
1LossND
SP1p.T503K
Missense
SNP
0.486
2-ND
SP5p.A183P
Missense
SNP
0.447
2-ND
SP6p.R211H
Missense
SNP
0.520
2-ND
SPACA7-
-
-
-
3GainND
SPAG11A-
-
-
-
1LossND
SPAG11B-
-
-
-
1LossND
SPAG4-
-
-
-
1LossND
SPAG9p.N575T
Missense
SNP
0.410
2-ND
SPATA13p.P25T
Missense
SNP
0.477
2-ND
SPATA31E1p.C641F
p.L790F
Missense
Missense
SNP
SNP
0.390
0.570
2-ND
SPATA9p.R119K
Missense
SNP
0.381
2-ND
SPATC1p.V473I
Missense
SNP
0.490
2-ND
SPCS1-
-
-
-
3GainND
SPEF1-
-
-
-
3GainND
SPERTp.L175P
Missense
SNP
0.446
2-ND
SPG11p.C2224Y
Missense
SNP
0.424
2-ND
SPINK5p.X95_splice
Splice_Site
SNP
0.452
2-ND
SPNS1p.A291P
Missense
SNP
0.561
2-ND
SPP2p.M10T
Missense
SNP
0.538
2-ND
SPPL2Bp.T542I
Missense
SNP
0.439
2-ND
SPPL2Cp.A235E
Missense
SNP
0.458
2-ND
SPRR1A-
-
-
-
1LossND
SPRR1B-
-
-
-
1LossND
SPRR3-
-
-
-
1LossND
SPRR4-
-
-
-
1LossND
SPRY2-
-
-
-
3GainND
SPRYD7p.R156*
Nonsense
SNP
0.490
2-ND
SPSB3-
-
-
-
1LossND
SPTA1p.P2115L
Missense
SNP
0.380
2-ND
SPTAN1p.E112K
Missense
SNP
0.438
2-ND
SPTBp.V445L
Missense
SNP
0.486
2-ND
SPTBN5p.L3107I
p.A245T
Missense
Missense
SNP
SNP
0.531
0.493
2-ND
SPTLC3-
-
-
-
3GainND
SRGAP2B-
-
-
-
1LossND
SRP72p.A650T
Missense
SNP
0.551
2-ND
SRRM2p.T1472M
Missense
SNP
1.000
1LossND
SRXN1-
-
-
-
3GainND
SSC5Dp.R946K
Missense
SNP
0.512
2-ND
SSR2p.X85_splice
Splice_Site
SNP
0.395
2-ND
SSTR4-
-
-
-
3GainND
SSTR5-
-
-
-
1LossND
ST6GALNAC4p.D39N
Missense
SNP
0.565
2-ND
STAMBPp.E314*
Nonsense
SNP
0.431
2-ND
STARD13p.G429D
Missense
SNP
0.437
2-ND
STARD9p.S1600F
Missense
SNP
0.529
2-ND
STAT2p.E730K
Missense
SNP
0.466
2-ND
STAT5Ap.Y682H
Missense
SNP
0.432
2-ND
STC1p.A110T
Missense
SNP
0.497
2-ND
STK24-
-
-
-
3GainND
STK35-
-
-
-
3GainND
STMND1p.K242T
Missense
SNP
0.579
2-ND
STPG2p.A405T
Missense
SNP
0.472
2-ND
STRADAp.R194M
Missense
SNP
0.492
2-ND
STRADBp.R41H
Missense
SNP
0.485
2-ND
STRNp.P380H
Missense
SNP
0.486
2-ND
STUB1-
-
-
-
1LossND
STYXp.I32F
Missense
SNP
0.495
2-ND
SUGT1-
-
-
-
3GainND
SUN5-
-
-
-
1LossND
SUPT16Hp.V425A
Missense
SNP
0.518
2-ND
SUPT20Hp.Q730H
Missense
SNP
0.453
2-ND
SUSD6p.L146P
Missense
SNP
0.449
2-ND
SYN3p.L59F
Missense
SNP
0.416
2-ND
SYNDIG1-
-
-
-
3GainND
SYNE1p.Q7399R
p.G531E
Missense
Missense
SNP
SNP
0.492
0.439
2-ND
SYNE2p.P3923H
Missense
SNP
0.438
2-ND
SYNGR3-
-
-
-
1LossND
SYNJ1p.V1386I
Missense
SNP
0.514
2-ND
SYNJ2p.R1090H
Missense
SNP
0.512
2-ND
SYNPOp.S41N
Missense
SNP
0.495
2-ND
SYT1p.K214N
Missense
SNP
0.459
2-ND
SYT17p.P363Q
Missense
SNP
0.544
2-ND
SZT2p.G422R
Missense
SNP
0.459
2-ND
TAF2p.V816A
Missense
SNP
0.539
2-ND
TANC2p.L1146F
Missense
SNP
0.376
2-ND
TANGO6p.A6T
Missense
SNP
0.522
2-ND
TAOK1p.R971W
Missense
SNP
0.473
2-ND
TAOK2p.R936K
Missense
SNP
0.538
2-ND
TAPBPp.L124P
Missense
SNP
0.535
2-ND
TASP1-
-
-
-
3GainND
TAZp.K135T
Missense
SNP
0.495
NDNDND
TBC1D20-
-
-
-
3GainND
TBC1D22Ap.D376N
Missense
SNP
0.517
2-ND
TBC1D24-
-
-
-
1LossND
TBC1D31p.Q63*
Nonsense
SNP
0.515
2-ND
TBC1D4p.S5R
Missense
SNP
0.406
3GainND
TBCDp.A146T
Missense
SNP
0.474
2-ND
TBCKp.V537M
Missense
SNP
0.477
2-ND
TBL3-
-
-
-
1LossND
TBX10p.L9F
Missense
SNP
0.461
2-ND
TBX18p.M606K
Missense
SNP
0.379
2-ND
TBX6p.H352Y
Missense
SNP
0.474
2-ND
TCF15-
-
-
-
3GainND
TCF4p.Q508*
Nonsense
SNP
0.588
2-ND
TDRD3-
-
-
-
3GainND
TEDC2-
-
-
-
1LossND
TELO2-
-
-
-
1LossND
TENM3p.R22C
Missense
SNP
0.452
2-ND
TESK2p.P548Q
Missense
SNP
0.500
2-ND
TESMINp.E2*
Nonsense
SNP
0.500
2-ND
TEX14p.I154N
Missense
SNP
0.487
2-ND
TEX29-
-
-
-
3GainND
TEX30-
-
-
-
3GainND
TEX38p.L8V
Missense
SNP
0.588
2-ND
TFDP1-
-
-
-
3GainND
TGDS-
-
-
-
3GainND
TGFBR2p.R553H
Missense
SNP
0.562
2-ND
TGM3-
-
-
-
3GainND
TGM6-
-
-
-
3GainND
THBD-
-
-
-
3GainND
THG1Lp.T115N
Missense
SNP
0.434
2-ND
THOC6-
-
-
-
1LossND
THSD1-
-
-
-
3GainND
TIAM1p.G484E
Missense
SNP
0.463
2-ND
TIGD7-
-
-
-
1LossND
TINAGp.C284Y
Missense
SNP
0.508
2-ND
TINF2p.A77T
Missense
SNP
0.481
2-ND
TJP1p.R201Q
Missense
SNP
0.593
2-ND
TKTL2p.R475Q
Missense
SNP
0.466
2-ND
TLCD1p.P236T
Missense
SNP
0.531
2-ND
TLDC1p.R7H
Missense
SNP
0.580
2-ND
TLR4-
-
-
-
1LossND
TLR6p.S436P
Missense
SNP
0.527
2-ND
TM4SF18p.R4G
Missense
SNP
0.421
2-ND
TM9SF2-
-
-
-
3GainND
TM9SF3p.L89S
Missense
SNP
0.468
2-ND
TM9SF4-
-
-
-
1LossND
TMC2-
-
-
-
3GainND
TMCO3-
-
-
-
3GainND
TMEM116p.A56T
Missense
SNP
0.448
2-ND
TMEM132Bp.G839C
Missense
SNP
0.481
2-ND
TMEM134p.I156T
Missense
SNP
0.457
2-ND
TMEM136p.C46Y
Missense
SNP
0.446
2-ND
TMEM178Ap.P72L
Missense
SNP
0.485
2-ND
TMEM200Cp.P490L
p.R364H
Missense
Missense
SNP
SNP
0.617
1.000
2-ND
TMEM204-
-
-
-
1LossND
TMEM208-
-
-
-
5AmpND
TMEM230-
-
-
-
3GainND
TMEM236p.R180K
Missense
SNP
0.496
2-ND
TMEM239-
-
-
-
3GainND
TMEM255B-
-
-
-
3GainND
TMEM47p.A167V
Missense
SNP
0.421
NDNDND
TMEM52p.R128W
Missense
SNP
0.462
2-ND
TMEM59Lp.L12P
Missense
SNP
0.469
2-ND
TMEM74B-
-
-
-
3GainND
TMEM8A-
-
-
-
1LossND
TMPRSS11Fp.G187*
Nonsense
SNP
0.495
2-ND
TMTC4p.Q390R
Missense
SNP
0.231
3GainND
TMX4-
-
-
-
3GainND
TNCp.R2033C
p.E365A
Missense
Missense
SNP
SNP
0.460
0.460
2-ND
TNFRSF12A-
-
-
-
1LossND
TNFRSF9p.A10T
Missense
SNP
0.457
2-ND
TNFSF13B-
-
-
-
3GainND
TNK2p.R129K
Missense
SNP
0.509
2-ND
TNRp.I51V
Missense
SNP
0.507
2-ND
TNS4p.A525V
Missense
SNP
0.472
2-ND
TNXBp.G641V
Missense
SNP
0.503
2-ND
TOP1p.E272G
Missense
SNP
0.469
2-ND
TOR2Ap.D247G
Missense
SNP
0.507
2-ND
TP53I11p.T123M
Missense
SNP
0.421
2-ND
TP53INP2-
-
-
-
1LossND
TP63p.M307I
Missense
SNP
1.000
2-ND
TPBGLp.P129L
Missense
SNP
0.464
2-ND
TPP2-
-
-
-
3GainND
TPRp.R724C
Missense
SNP
0.414
2-ND
TPSAB1-
-
-
-
1LossND
TPSB2-
-
-
-
1LossND
TPSD1-
-
-
-
1LossND
TPSG1-
-
-
-
1LossND
TPX2-
-
-
-
1LossND
TRABD2Bp.E401D
Missense
SNP
0.421
2-ND
TRADDp.D306V
Missense
SNP
0.201
5AmpND
TRAF2p.F56L
Missense
SNP
0.422
2-ND
TRAF7-
-
-
-
1LossND
TRAK2p.A603V
Missense
SNP
0.480
2-ND
TRAP1-
-
-
-
1LossND
TRAPPC2Bp.S4G
Missense
SNP
0.500
2-ND
TREM1p.D127N
Missense
SNP
0.548
2-ND
TRIB3-
-
-
-
3GainND
TRIM10p.L174F
Missense
SNP
0.477
2-ND
TRIM32p.G383V
Missense
SNP
0.472
1LossND
TRIM33p.C233Y
Missense
SNP
0.529
2-ND
TRIM38p.R164Q
Missense
SNP
0.502
2-ND
TRIM42p.G552C
p.W709L
Missense
Missense
SNP
SNP
0.472
0.497
2-ND
TRIP12p.S1039N
Missense
SNP
0.487
2-ND
TRMT10Cp.S273P
Missense
SNP
0.481
2-ND
TRMT6p.R395G
Missense
SNP
0.296
3GainND
TRMT61Bp.P344L
Missense
SNP
0.469
2-ND
TRPC4AP-
-
-
-
1LossND
TRPM1p.L440M
Missense
SNP
0.500
2-ND
TSC2-
-
-
-
1LossND
TSFMp.V168L
Missense
SNP
0.523
2-ND
TSR3-
-
-
-
1LossND
TTC21Bp.M588V
Missense
SNP
0.625
2-ND
TTC24p.X347_splice
Splice_Site
SNP
0.487
2-ND
TTC28p.R2474T
p.G2049C
p.S1279N
Missense
Missense
Missense
SNP
SNP
SNP
0.555
0.495
0.598
2-ND
TTC34p.R407K
Missense
SNP
0.527
2-ND
TTC39Ap.T477M
Missense
SNP
0.505
2-ND
TTC6p.A195T
Missense
SNP
0.510
2-ND
TTLL11p.V496F
Missense
SNP
0.448
2-ND
TTLL9-
-
-
-
1LossND
TTNp.P24604L
p.D19698Y
p.H8370Y
Missense
Missense
Missense
SNP
SNP
SNP
0.259
0.485
0.508
2-ND
TUBGCP2p.P918A
Missense
SNP
0.442
2-ND
TUBGCP3-
-
-
-
3GainND
TULP4p.Q1273*
Nonsense
SNP
0.472
2-ND
TYK2p.V1048M
Missense
SNP
0.451
2-ND
UBAC2-
-
-
-
3GainND
UBE2I-
-
-
-
1LossND
UBE2V2-
-
-
-
1LossND
UBE3Cp.G6S
p.P674S
Missense
Missense
SNP
SNP
0.416
0.435
2-ND
UBOX5-
-
-
-
3GainND
UBR3p.L586F
Missense
SNP
0.503
2-ND
UBR4p.G2929*
Nonsense
SNP
0.419
2-ND
UCHL3-
-
-
-
3GainND
UCK1p.S11N
Missense
SNP
0.556
2-ND
UGGT2-
-
-
-
3GainND
UHRF1BP1Lp.G1208V
Missense
SNP
0.455
2-ND
UNKL-
-
-
-
1LossND
UPF3A-
-
-
-
3GainND
UQCC1-
-
-
-
1LossND
USB1p.H149N
Missense
SNP
0.567
2-ND
USH2Ap.Q4402K
Missense
SNP
0.515
2-ND
USP17L1-
-
-
-
1LossND
USP17L4-
-
-
-
1LossND
USP28p.R141C
Missense
SNP
0.449
2-ND
USP36p.N398I
Missense
SNP
0.463
2-ND
USP6p.R398W
Missense
SNP
0.500
2-ND
USP9Xp.M877I
Missense
SNP
0.500
NDNDND
UTS2Rp.L299M
Missense
SNP
0.458
2-ND
UVSSAp.Q84K
Missense
SNP
0.444
2-ND
VCPIP1p.Q645*
Nonsense
SNP
0.480
2-ND
VEGFCp.G35E
Missense
SNP
0.518
2-ND
VGLL1p.P192S
Missense
SNP
0.488
NDNDND
VIPR1p.A30V
Missense
SNP
0.450
2-ND
VPS13Bp.L1503I
Missense
SNP
0.545
2-ND
VPS13Dp.R2272I
Missense
SNP
0.477
2-ND
VPS16-
-
-
-
3GainND
VPS33Ap.S350W
Missense
SNP
0.441
2-ND
VPS36-
-
-
-
3GainND
VSTM2Ap.A150V
Missense
SNP
0.494
2-ND
VSX1p.V138I
Missense
SNP
0.759
3GainND
WDFY3p.G373S
Missense
SNP
0.522
2-ND
WDR11p.K61E
Missense
SNP
0.421
2-ND
WDR24-
-
-
-
1LossND
WDR90-
-
-
-
1LossND
WEE1p.R319K
Missense
SNP
0.482
2-ND
WFIKKN1-
-
-
-
1LossND
WFS1p.L130V
Missense
SNP
0.452
2-ND
WNK1p.R81S
p.A2229E
Missense
Missense
SNP
SNP
0.496
0.489
2-ND
WRNp.S467N
Missense
SNP
0.504
2-ND
XAGE2p.P40L
Missense
SNP
0.414
NDNDND
XKR4p.D16Y
Missense
SNP
0.494
2-ND
XKR7-
-
-
-
1LossND
XPO6p.V292I
Missense
SNP
0.468
2-ND
XRN2-
-
-
-
3GainND
YLPM1p.P1804Q
Missense
DNP
0.494
2-ND
ZBTB25p.A181T
Missense
SNP
0.443
2-ND
ZBTB38p.G403*
Nonsense
SNP
0.479
2-ND
ZBTB49p.C369*
Nonsense
SNP
0.477
2-ND
ZC3H12Ap.P463Q
Missense
SNP
0.532
2-ND
ZC3H7Ap.A422T
Missense
SNP
0.479
2-ND
ZCCHC3-
-
-
-
3GainND
ZCCHC7p.M177I
Missense
SNP
0.604
2-ND
ZEB1p.N477K
Missense
SNP
0.444
2-ND
ZFATp.Q645H
Missense
SNP
0.545
2-ND
ZFP36p.S52G
Missense
SNP
0.583
2-ND
ZFP36L2p.S97F
Missense
SNP
0.504
2-ND
ZFP82p.P197T
Missense
SNP
0.562
2-ND
ZFYVE9p.R1143G
Missense
SNP
0.478
2-ND
ZG16B-
-
-
-
1LossND
ZHX2p.P244S
Missense
SNP
0.492
2-ND
ZIC2-
-
-
-
3GainND
ZIC5-
-
-
-
3GainND
ZIK1p.S277N
Missense
SNP
0.527
2-ND
ZMYM2p.M458T
Missense
SNP
0.454
2-ND
ZNF112p.V47L
Missense
SNP
0.561
2-ND
ZNF133p.A353T
Missense
SNP
0.331
3GainND
ZNF140p.R339H
Missense
SNP
0.470
2-ND
ZNF174-
-
-
-
1LossND
ZNF195p.N219D
Missense
SNP
0.471
2-ND
ZNF200-
-
-
-
1LossND
ZNF205-
-
-
-
1LossND
ZNF213-
-
-
-
1LossND
ZNF223p.L421F
Missense
SNP
0.476
2-ND
ZNF263-
-
-
-
1LossND
ZNF268p.L403F
Missense
SNP
0.562
2-ND
ZNF282p.A103V
Missense
SNP
0.450
2-ND
ZNF324p.G138R
Missense
SNP
0.481
2-ND
ZNF337-
-
-
-
3GainND
ZNF341-
-
-
-
1LossND
ZNF343-
-
-
-
3GainND
ZNF383p.E18D
Missense
SNP
0.432
2-ND
ZNF385Dp.T158M
Missense
SNP
0.478
2-ND
ZNF391p.Q210R
Missense
SNP
0.454
2-ND
ZNF41p.E24*
Nonsense
SNP
0.527
NDNDND
ZNF44p.R261C
p.A150V
Missense
Missense
SNP
SNP
0.473
0.460
NDNDND
ZNF469p.P3737L
Missense
SNP
0.357
2-ND
ZNF513p.E203K
Missense
SNP
0.461
2-ND
ZNF528p.G99R
Missense
SNP
0.519
2-ND
ZNF536p.A62T
Missense
SNP
0.520
2-ND
ZNF547p.C329R
Missense
SNP
0.463
2-ND
ZNF558p.T308A
Missense
SNP
0.457
2-ND
ZNF589p.T327I
Missense
SNP
0.432
2-ND
ZNF597-
-
-
-
1LossND
ZNF598-
-
-
-
1LossND
ZNF600p.K561T
Missense
SNP
0.475
2-ND
ZNF611p.C276F
Missense
SNP
0.473
2-ND
ZNF626p.P87Q
Missense
SNP
0.304
2-ND
ZNF646p.E432G
Missense
SNP
0.479
2-ND
ZNF746p.V564M
Missense
SNP
0.492
2-ND
ZNF75A-
-
-
-
1LossND
ZNF777p.A687V
Missense
SNP
0.520
2-ND
ZNF792p.R550K
p.H450N
Missense
Missense
SNP
SNP
0.562
0.484
2-ND
ZNF804Ap.A184T
Missense
SNP
0.573
2-ND
ZNF83p.K290R
Missense
SNP
0.738
2-ND
ZNF831p.A75P
Missense
SNP
0.496
2-ND
ZNF835p.A535T
Missense
SNP
0.508
2-ND
ZNF837p.H493N
Missense
SNP
0.515
2-ND
ZNF91p.P433L
Missense
SNP
0.205
2-ND
ZSCAN10p.P466L
Missense
SNP
1.000
1LossND
ZSCAN32-
-
-
-
1LossND
ZSCAN5Ap.P23R
Missense
SNP
0.475
2-ND