PDMR-947758~054-R~UCP-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AARD-
-
-
-
3Gain-
AASS-
-
-
-
3Gain-
ABCA13p.W1921*
Nonsense
SNP
0.298
3Gain-
ABCB1-
-
-
-
3Gain-
ABCB4p.A821V
Missense
SNP
0.128
3Gain-
ABCB5-
-
-
-
3Gain-
ABCB8-
-
-
-
3Gain-
ABCC4-
-
-
-
3Gain-
ABCF2-
-
-
-
3Gain-
ABCG2p.A221T
Missense
SNP
0.250
2--
ABHD11-
-
-
-
3Gain-
ABHD13-
-
-
-
3Gain-
ABRA-
-
-
-
3Gain-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC001226.2-
-
-
-
3Gain-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004922.1-
-
-
-
3Gain-
AC005020.2-
-
-
-
3Gain-
AC005154.5-
-
-
-
3Gain-
AC006978.2-
-
-
-
3Gain-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC010132.3-
-
-
-
3Gain-
AC011005.1-
-
-
-
3Gain-
AC012213.5-
-
-
-
3Gain-
AC019117.2-
-
-
-
3Gain-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC022826.2-
-
-
-
3Gain-
AC027644.4-
-
-
-
3Gain-
AC036214.3-
-
-
-
3Gain-
AC068533.4-
-
-
-
3Gain-
AC073111.3-
-
-
-
3Gain-
AC073111.5-
-
-
-
3Gain-
AC092647.5-
-
-
-
3Gain-
AC093668.1-
-
-
-
3Gain-
AC093668.2-
-
-
-
3Gain-
AC093668.3-
-
-
-
3Gain-
AC100868.1-
-
-
-
3Gain-
AC105052.1-
-
-
-
3Gain-
AC105052.3-
-
-
-
3Gain-
AC115220.1-
-
-
-
3Gain-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC187653.1-
-
-
-
3Gain-
ACAD10p.A222T
Missense
SNP
0.457
2--
ACHE-
-
-
-
3Gain-
ACOD1-
-
-
-
3Gain-
ACP5p.D165E
Missense
SNP
0.540
2--
ACTB-
-
-
-
3Gain-
ACTL6B-
-
-
-
3Gain-
ACTN4p.K103E
Missense
SNP
0.223
2--
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACTRT1p.D289G
Missense
SNP
0.522
NDND-
ADAM22-
-
-
-
3Gain-
ADAM33p.F685V
Missense
SNP
0.449
2--
ADAMTS12p.S77C
Missense
SNP
0.464
2--
ADAMTS6p.H132Q
Missense
SNP
0.210
2--
ADAMTSL3p.T354M
Missense
SNP
0.497
2--
ADAP1-
-
-
-
3Gain-
ADCK2-
-
-
-
3Gain-
ADCK5-
-
-
-
3Gain-
ADCY1-
-
-
-
3Gain-
ADCY2p.E17K
Missense
SNP
0.442
2--
ADCY8-
-
-
-
3Gain-
ADCYAP1R1-
-
-
-
3Gain-
ADGRB1-
-
-
-
3Gain-
ADHFE1-
-
-
-
3Gain-
ADPRHL1-
-
-
-
3Gain-
ADRB2p.T195M
Missense
SNP
0.489
2--
AEBP1-
-
-
-
3Gain-
AGAP3-
-
-
-
3Gain-
AGBL3-
-
-
-
3Gain-
AGFG2-
-
-
-
3Gain-
AGK-
-
-
-
3Gain-
AGMO-
-
-
-
3Gain-
AGO2-
-
-
-
3Gain-
AGO3p.Q311R
Missense
SNP
0.503
2--
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AHCYL2-
-
-
-
3Gain-
AHNAK-
-
-
-
2-AHNAK--AL355075.4
AHR-
-
-
-
3Gain-
AIMP2-
-
-
-
3Gain-
AKAP11p.V379I
Missense
SNP
0.148
3Gain-
AKAP3p.P63H
Missense
SNP
0.445
2--
AKAP9-
-
-
-
3Gain-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1D1-
-
-
-
3Gain-
AL162377.3-
-
-
-
3Gain-
AL355075.4-
-
-
-
NDNDAHNAK--AL355075.4
AL359736.1-
-
-
-
3Gain-
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
AL512506.3-
-
-
-
3Gain-
AL592490.1-
-
-
-
3Gain-
ALG11-
-
-
-
3Gain-
ALG5-
-
-
-
3Gain-
ALKAL1-
-
-
-
3Gain-
ALKBH4-
-
-
-
3Gain-
ALOX12p.K387N
Missense
SNP
0.204
2--
ALOX5AP-
-
-
-
3Gain-
ALPK1p.S98P
Missense
SNP
0.110
2--
AMER2-
-
-
-
3Gain-
AMMECR1Lp.G216V
Missense
SNP
0.451
2--
AMPH-
-
-
-
3Gain-
AMZ1-
-
-
-
3Gain-
ANGPT1-
-
-
-
3Gain-
ANHXp.L320P
Missense
SNP
0.387
2--
ANKIB1-
-
-
-
3Gain-
ANKMY2-
-
-
-
3Gain-
ANKRD10-
-
-
-
3Gain-
ANKRD18Bp.G294R
Missense
SNP
0.162
2--
ANKRD30Bp.M71V
Missense
SNP
0.513
2--
ANKRD36p.K231N
Missense
SNP
0.457
2--
ANKRD46-
-
-
-
3Gain-
ANKRD61-
-
-
-
3Gain-
ANKRD7-
-
-
-
3Gain-
ANLN-
-
-
-
3Gain-
ANO2p.R477H
Missense
SNP
0.422
2--
ANXA13-
-
-
-
3Gain-
AOAH-
-
-
-
3Gain-
AOC1-
-
-
-
3Gain-
AP1S1-
-
-
-
3Gain-
AP3B1p.L599P
Missense
SNP
0.585
2--
AP4M1-
-
-
-
3Gain-
AP5Z1-
-
-
-
3Gain-
APOBEC3Fp.Y125H
Missense
SNP
0.205
2--
APOOp.K20E
Missense
SNP
0.468
NDND-
AQP1-
-
-
-
3Gain-
ARAP3p.T1534I
Missense
SNP
0.441
2--
ARCp.A382T
Missense
SNP
0.229
3Gain-
ARF5-
-
-
-
3Gain-
ARFGEF1-
-
-
-
3Gain-
ARGLU1-
-
-
-
3Gain-
ARHGAP23p.S314R
Missense
SNP
0.411
2--
ARHGAP39-
-
-
-
3Gain-
ARHGEF5-
-
-
-
3Gain-
ARHGEF7-
-
-
-
3Gain-
ARL11-
-
-
-
3Gain-
ARL17A-
-
-
-
1Loss-
ARL17B-
-
-
-
1Loss-
ARL4A-
-
-
-
3Gain-
ARMC1-
-
-
-
3Gain-
ARMC10-
-
-
-
3Gain-
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ASAP1-
-
-
-
3Gain-
ASB10-
-
-
-
3Gain-
ASB15-
-
-
-
3Gain-
ASB4-
-
-
-
3Gain-
ASIC3-
-
-
-
3Gain-
ASL-
-
-
-
3Gain-
ASNS-
-
-
-
3Gain-
ASPH-
-
-
-
3Gain-
ASZ1-
-
-
-
3Gain-
ATAD2-
-
-
-
3Gain-
ATG9B-
-
-
-
3Gain-
ATP11A-
-
-
-
3Gain-
ATP12A-
-
-
-
3Gain-
ATP13A2p.V669A
Missense
SNP
0.496
2--
ATP4B-
-
-
-
3Gain-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0D2-
-
-
-
3Gain-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1C1-
-
-
-
3Gain-
ATP6V1Fp.R135C
Missense
SNP
0.161
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1H-
-
-
-
3Gain-
ATP7B-
-
-
-
3Gain-
ATP8A2p.G4D
Missense
SNP
0.393
3Gain-
ATRXp.V86L
Missense
SNP
0.472
NDND-
ATXN7p.D132G
Missense
SNP
0.224
2--
ATXN7L1-
-
-
-
3Gain-
AUTS2-
-
-
-
3Gain-
AVENp.V198A
Missense
SNP
0.400
2--
AVL9-
-
-
-
3Gain-
AXIN2p.G406C
Missense
SNP
0.465
2--
AZGP1-
-
-
-
3Gain-
AZIN1-
-
-
-
3Gain-
B3GLCT-
-
-
-
3Gain-
B3GNT9p.D109N
Missense
SNP
0.515
2--
BAALC-
-
-
-
3Gain-
BAIAP2L1-
-
-
-
3Gain-
BAZ1B-
-
-
-
3Gain-
BBS7p.A665V
Missense
SNP
0.426
2--
BBS9-
-
-
-
3Gain-
BCAP29-
-
-
-
3Gain-
BCL11Bp.L604I
Missense
SNP
0.506
2--
BCL7B-
-
-
-
3Gain-
BET1-
-
-
-
3Gain-
BHLHA15-
-
-
-
3Gain-
BHLHE22-
-
-
-
3Gain-
BIVM-
-
-
-
3Gain-
BIVM-ERCC5-
-
-
-
3Gain-
BLVRA-
-
-
-
3Gain-
BMPER-
-
-
-
3Gain-
BMT2-
-
-
-
3Gain-
BOP1-
-
-
-
3Gain-
BORAp.L109H
p.E438G
Missense
Missense
SNP
SNP
0.156
0.143
3Gain-
BPGM-
-
-
-
3Gain-
BRAFp.V600E
Missense
SNP
0.256
3Gain-
BRAT1-
-
-
-
3Gain-
BRCA2-
-
-
-
3Gain-
BRI3-
-
-
-
3Gain-
BRINP3-
-
-
-
3Gain-
BRMS1p.T227R
Missense
SNP
0.177
2--
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
3Gain-
BZW2-
-
-
-
3Gain-
C11orf58p.R55C
Missense
SNP
0.478
2--
C11orf63p.D354Y
Missense
SNP
0.411
NDND-
C17orf47p.R191H
Missense
SNP
0.176
2--
C1GALT1-
-
-
-
3Gain-
C1orf43p.A189V
Missense
SNP
0.600
2--
C1QL2p.R230W
Missense
SNP
0.491
2--
C1QTNF9-
-
-
-
3Gain-
C1QTNF9B-
-
-
-
3Gain-
C2orf42p.F222C
Missense
SNP
0.509
2--
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf33-
-
-
-
3Gain-
C7orf43-
-
-
-
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C7orf61-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8Gp.Q98*
Nonsense
SNP
0.203
NDND-
C8orf33-
-
-
-
3Gain-
C8orf34-
-
-
-
3Gain-
C8orf37-
-
-
-
3Gain-
C8orf4p.E46*
Nonsense
SNP
0.531
NDND-
C8orf44-
-
-
-
3Gain-
C8orf59-
-
-
-
3Gain-
C8orf76-
-
-
-
3Gain-
C8orf82-
-
-
-
3Gain-
C8orf88-
-
-
-
3Gain-
C8orf89-
-
-
-
3Gain-
C9orf78p.E162K
Missense
SNP
0.524
NDND-
CA1-
-
-
-
3Gain-
CA13-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA8-
-
-
-
3Gain-
CAB39L-
-
-
-
3Gain-
CABP4p.E45K
Missense
SNP
0.181
2--
CACNA1Ep.V162G
Missense
SNP
0.209
2--
CACNA1Ip.R1272Q
Missense
SNP
0.458
2--
CACNA2D1-
-
-
-
3Gain-
CACNG5p.R69W
Missense
SNP
0.521
2--
CACUL1p.A301T
Missense
SNP
0.202
2--
CADM2-
-
-
-
3Gain-
CADPS2-
-
-
-
3Gain-
CALB1-
-
-
-
3Gain-
CALCR-
-
-
-
3Gain-
CALD1-
-
-
-
3Gain-
CALN1-
-
-
-
3Gain-
CALU-
-
-
-
3Gain-
CAMK2B-
-
-
-
3Gain-
CAPZA2-
-
-
-
3Gain-
CARD11p.A1033V
Missense
SNP
0.161
3Gain-
CARNS1p.G525D
Missense
SNP
0.395
2--
CARS2-
-
-
-
3Gain-
CASC5p.F1899L
Missense
SNP
0.402
NDND-
CASD1-
-
-
-
3Gain-
CASP2-
-
-
-
3Gain-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CATSPERDp.R53H
Missense
SNP
0.373
2--
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CBLL1-
-
-
-
3Gain-
CBR1p.R159H
Missense
SNP
0.451
2--
CBX3-
-
-
-
3Gain-
CCDC105p.V179I
Missense
SNP
0.463
2--
CCDC122-
-
-
-
3Gain-
CCDC126-
-
-
-
3Gain-
CCDC136-
-
-
-
3Gain-
CCDC146-
-
-
-
3Gain-
CCDC148p.L477I
Missense
SNP
0.232
2--
CCDC166-
-
-
-
3Gain-
CCDC168-
-
-
-
3Gain-
CCDC169-
-
-
-
3Gain-
CCDC169-SOHLH2-
-
-
-
3Gain-
CCDC70-
-
-
-
3Gain-
CCDC71L-
-
-
-
3Gain-
CCDC83p.R117H
Missense
SNP
0.111
2--
CCDC9p.G225D
Missense
SNP
0.216
2--
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCM2-
-
-
-
3Gain-
CCNA1-
-
-
-
3Gain-
CCND3p.I290T
Missense
SNP
0.254
2--
CCNE2-
-
-
-
3Gain-
CCSAPp.S80P
Missense
SNP
0.465
2--
CCT6A-
-
-
-
3Gain-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD109p.C530R
Missense
SNP
0.267
2--
CD177-
-
-
-
1Loss-
CD300Ep.V177M
Missense
SNP
0.502
2--
CD36-
-
-
-
3Gain-
CD69p.R134*
Nonsense
SNP
0.438
2--
CDADC1-
-
-
-
3Gain-
CDC14C-
-
-
-
3Gain-
CDC16-
-
-
-
3Gain-
CDC25Bp.L65P
Missense
SNP
0.391
2--
CDC73p.S240N
Missense
SNP
0.188
2--
CDCA7L-
-
-
-
3Gain-
CDCP1p.R362W
Missense
SNP
0.234
2--
CDH17-
-
-
-
3Gain-
CDH8p.I27M
Missense
SNP
0.247
2--
CDHR3-
-
-
-
3Gain-
CDK11A-
-
-
-
1Loss-
CDK11B-
-
-
-
1Loss-
CDK13-
-
-
-
3Gain-
CDK14-
-
-
-
3Gain-
CDK5-
-
-
-
3Gain-
CDK6-
-
-
-
3Gain-
CDK8-
-
-
-
3Gain-
CDX2-
-
-
-
3Gain-
CEBPD-
-
-
-
3Gain-
CELF3p.Y43H
Missense
SNP
0.484
2--
CENPJ-
-
-
-
3Gain-
CEP41-
-
-
-
3Gain-
CEP68p.A711T
Missense
SNP
0.606
2--
CES5Ap.R19I
Missense
SNP
0.458
2--
CFAP69-
-
-
-
3Gain-
CFPp.R403C
Missense
SNP
0.522
NDND-
CFTR-
-
-
-
3Gain-
CHAMP1-
-
-
-
3Gain-
CHCHD2-
-
-
-
3Gain-
CHCHD3-
-
-
-
3Gain-
CHCHD5p.A80V
Missense
SNP
0.530
2--
CHCHD7-
-
-
-
3Gain-
CHD7-
-
-
-
3Gain-
CHMP4C-
-
-
-
3Gain-
CHN2-
-
-
-
3Gain-
CHPF2-
-
-
-
3Gain-
CHRAC1-
-
-
-
3Gain-
CHRM2-
-
-
-
3Gain-
CHST12-
-
-
-
3Gain-
CIAO1p.X47_splice
Splice_Site
SNP
0.300
2--
CILPp.R263*
Nonsense
SNP
0.529
2--
CISHp.P75S
Missense
SNP
0.470
2--
CKAP2-
-
-
-
3Gain-
CLCN1-
-
-
-
3Gain-
CLDN10-
-
-
-
3Gain-
CLDN12-
-
-
-
3Gain-
CLDN15-
-
-
-
3Gain-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLEC2L-
-
-
-
3Gain-
CLEC3Bp.K76T
Missense
SNP
0.166
2--
CLEC5A-
-
-
-
3Gain-
CLIP2-
-
-
-
3Gain-
CLK4p.V338M
Missense
SNP
0.224
2--
CLN5-
-
-
-
3Gain-
CLP1p.R19*
Nonsense
SNP
0.391
2--
CLVS1-
-
-
-
3Gain-
CLYBL-
-
-
-
3Gain-
CNBD1-
-
-
-
3Gain-
CNGB3-
-
-
-
3Gain-
CNMD-
-
-
-
3Gain-
CNOT4-
-
-
-
3Gain-
CNPY1-
-
-
-
3Gain-
CNPY4-
-
-
-
3Gain-
CNTN6p.R565S
Missense
SNP
0.134
2--
CNTNAP2p.P1112S
Missense
SNP
0.371
6Amp-
COA1-
-
-
-
3Gain-
COBL-
-
-
-
3Gain-
COBLL1p.G507A
Missense
SNP
0.505
2--
COG3-
-
-
-
3Gain-
COG5-
-
-
-
3Gain-
COG6-
-
-
-
3Gain-
COL14A1-
-
-
-
3Gain-
COL1A2-
-
-
-
3Gain-
COL20A1p.R625H
Missense
SNP
0.577
2--
COL22A1-
-
-
-
3Gain-
COL26A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COL4A1-
-
-
-
3Gain-
COL4A2-
-
-
-
3Gain-
COL6A4P1.
Splice_Site
SNP
0.143
NDND-
COLEC10-
-
-
-
3Gain-
COLEC12p.R335C
Missense
SNP
0.330
2--
COMMD5-
-
-
-
3Gain-
COMMD6-
-
-
-
3Gain-
COPG2p.S824P
Missense
SNP
0.327
3Gain-
COPS5-
-
-
-
3Gain-
COPS6p.V286M
Missense
SNP
0.348
3Gain-
COX19-
-
-
-
3Gain-
COX6C-
-
-
-
3Gain-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPA6-
-
-
-
3Gain-
CPB2-
-
-
-
3Gain-
CPED1p.K915E
Missense
SNP
0.361
3Gain-
CPNE3-
-
-
-
3Gain-
CPQ-
-
-
-
3Gain-
CPSF1-
-
-
-
3Gain-
CPSF4-
-
-
-
3Gain-
CPVL-
-
-
-
3Gain-
CRB1p.S15N
Missense
SNP
0.267
2--
CRCP-
-
-
-
3Gain-
CREB3L2-
-
-
-
3Gain-
CREB5-
-
-
-
3Gain-
CRH-
-
-
-
3Gain-
CRHR2p.A4V
Missense
SNP
0.421
3Gain-
CRISPLD1-
-
-
-
3Gain-
CROT-
-
-
-
3Gain-
CRYGBp.G14C
Missense
SNP
0.512
2--
CRYGN-
-
-
-
3Gain-
CRYL1-
-
-
-
3Gain-
CSMD3-
-
-
-
5Amp-
CSNK1A1L-
-
-
-
3Gain-
CSPP1-
-
-
-
3Gain-
CTAGE4-
-
-
-
3Gain-
CTAGE8-
-
-
-
3Gain-
CTBP2p.R831*
Nonsense
SNP
0.647
2--
CTHRC1-
-
-
-
3Gain-
CTTNp.X264_splice
Splice_Site
SNP
0.442
2--
CTTNBP2-
-
-
-
3Gain-
CUBNp.P3288L
Missense
SNP
0.549
2--
CUL1-
-
-
-
3Gain-
CUL4A-
-
-
-
3Gain-
CUX1-
-
-
-
3Gain-
CUZD1p.A213V
Missense
SNP
0.354
2--
CWH43p.A291S
Missense
SNP
0.236
2--
CYC1-
-
-
-
3Gain-
CYCS-
-
-
-
3Gain-
CYHR1-
-
-
-
3Gain-
CYP11B1-
-
-
-
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP27B1p.H336Y
Missense
SNP
0.481
2--
CYP2S1p.P36H
Missense
SNP
0.433
2--
CYP2W1-
-
-
-
3Gain-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5-
-
-
-
3Gain-
CYP3A7-
-
-
-
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP51A1-
-
-
-
3Gain-
CYP7A1-
-
-
-
3Gain-
CYP7B1-
-
-
-
3Gain-
CYREN-
-
-
-
3Gain-
CYSLTR2-
-
-
-
3Gain-
CYTH3-
-
-
-
3Gain-
DACH1-
-
-
-
3Gain-
DAGLAp.C935*
Nonsense
SNP
0.412
2--
DAGLB-
-
-
-
3Gain-
DAOA-
-
-
-
3Gain-
DBF4-
-
-
-
3Gain-
DBNL-
-
-
-
3Gain-
DBR1p.V200A
Missense
SNP
0.455
2--
DCAF13-
-
-
-
3Gain-
DCAF4L2-
-
-
-
3Gain-
DCHS2p.Q2158R
Missense
SNP
0.444
2--
DCLK1-
-
-
-
3Gain-
DCLRE1Ap.C949Y
Missense
SNP
0.458
2--
DCLRE1Cp.L358S
Missense
SNP
0.416
2--
DCSTAMP-
-
-
-
3Gain-
DCT-
-
-
-
3Gain-
DCUN1D2-
-
-
-
3Gain-
DDC-
-
-
-
3Gain-
DDX56-
-
-
-
3Gain-
DECR1-
-
-
-
3Gain-
DENND2A-
-
-
-
3Gain-
DENND3-
-
-
-
3Gain-
DEPTOR-
-
-
-
3Gain-
DERL1-
-
-
-
3Gain-
DERL3p.F49S
Missense
SNP
0.278
2--
DGAT1-
-
-
-
3Gain-
DGCR8p.G173C
Missense
SNP
0.562
2--
DGKBp.R681*
p.T213I
Nonsense
Missense
SNP
SNP
0.312
0.348
3Gain-
DGKH-
-
-
-
3Gain-
DGKI-
-
-
-
3Gain-
DHRS12-
-
-
-
3Gain-
DHX30p.A446T
Missense
SNP
0.449
2--
DIAPH3-
-
-
-
3Gain-
DIS3-
-
-
-
3Gain-
DLD-
-
-
-
3Gain-
DLEU7-
-
-
-
3Gain-
DLX5-
-
-
-
3Gain-
DLX6-
-
-
-
3Gain-
DMAP1p.T284M
Missense
SNP
0.199
2--
DMTF1-
-
-
-
3Gain-
DNAAF5-
-
-
-
3Gain-
DNAH11-
-
-
-
3Gain-
DNAH8p.E2304D
Missense
SNP
0.662
2--
DNAJB6-
-
-
-
3Gain-
DNAJB9-
-
-
-
3Gain-
DNAJC15-
-
-
-
3Gain-
DNAJC2-
-
-
-
3Gain-
DNAJC3-
-
-
-
3Gain-
DNAJC30-
-
-
-
3Gain-
DNAJC5B-
-
-
-
3Gain-
DNASE1L2p.C42R
p.G43S
Missense
Missense
SNP
SNP
0.421
0.418
2--
DNMT1p.N709S
Missense
SNP
0.409
2--
DOCK2p.L360I
Missense
SNP
0.500
2--
DOCK4-
-
-
-
3Gain-
DOCK9p.F1462L
Missense
SNP
0.596
3Gain-
DOT1Lp.M71I
Missense
SNP
0.452
2--
DPP6-
-
-
-
3Gain-
DPY19L1-
-
-
-
3Gain-
DPY19L4-
-
-
-
3Gain-
DPYS-
-
-
-
3Gain-
DSCC1-
-
-
-
3Gain-
DSCR4p.T7M
Missense
SNP
0.506
NDND-
DTX2-
-
-
-
3Gain-
DUS4L-
-
-
-
3Gain-
DYNC1I1-
-
-
-
3Gain-
DYRK1Ap.I74V
Missense
SNP
0.239
2--
DZIP1-
-
-
-
3Gain-
DZIP1Lp.R233Q
Missense
SNP
0.528
2--
E2F5-
-
-
-
3Gain-
E4F1p.I761F
Missense
SNP
0.450
2--
EBAG9-
-
-
-
3Gain-
EBPL-
-
-
-
3Gain-
EDNRBp.R54C
Missense
SNP
0.383
3Gain-
EEA1p.E1139A
Missense
SNP
0.592
2--
EEF1AKMT1-
-
-
-
3Gain-
EEF1D-
-
-
-
3Gain-
EEPD1-
-
-
-
3Gain-
EFCAB1-
-
-
-
3Gain-
EFCAB10-
-
-
-
3Gain-
EFNB2-
-
-
-
3Gain-
EFR3A-
-
-
-
3Gain-
EGFL8p.V236D
Missense
SNP
0.967
2--
EGFR-
-
-
-
3Gain-
EHD2p.L263I
Missense
SNP
0.434
2--
EIF2AK1-
-
-
-
3Gain-
EIF3B-
-
-
-
3Gain-
EIF3E-
-
-
-
3Gain-
EIF3H-
-
-
-
3Gain-
EIF4E1Bp.D115E
Missense
SNP
0.506
2--
EIF4H-
-
-
-
3Gain-
ELF1-
-
-
-
3Gain-
ELFN1-
-
-
-
3Gain-
ELMO1-
-
-
-
3Gain-
ELN-
-
-
-
3Gain-
ELOC-
-
-
-
3Gain-
EMC2-
-
-
-
3Gain-
EMSYp.P1089L
Missense
DNP
0.301
2--
EN2-
-
-
-
3Gain-
ENOX1-
-
-
-
3Gain-
ENPP2-
-
-
-
3Gain-
ENY2-
-
-
-
3Gain-
EPDR1-
-
-
-
3Gain-
EPHA1-
-
-
-
3Gain-
EPHB4-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPO-
-
-
-
3Gain-
EPPK1-
-
-
-
3Gain-
EPSTI1-
-
-
-
3Gain-
ERCC5-
-
-
-
3Gain-
ERICH5-
-
-
-
3Gain-
ERICH6B-
-
-
-
3Gain-
ERV3-1-
-
-
-
3Gain-
ESD-
-
-
-
3Gain-
ESPL1p.K515E
Missense
SNP
0.532
2--
ESR1p.R28H
Missense
SNP
0.263
2--
ESRP1-
-
-
-
3Gain-
ESYT2-
-
-
-
3Gain-
ETS1p.S26F
Missense
SNP
0.566
2--
ETV1-
-
-
-
3Gain-
EVI5Lp.R615H
Missense
SNP
0.479
2--
EVX1p.R184C
Missense
SNP
0.315
3Gain-
EXOC4-
-
-
-
3Gain-
EXOC6Bp.L479R
Missense
SNP
0.196
2--
EXOSC4-
-
-
-
3Gain-
EXOSC8-
-
-
-
3Gain-
EXT1-
-
-
-
3Gain-
EYA1-
-
-
-
3Gain-
EZH2-
-
-
-
3Gain-
F10-
-
-
-
3Gain-
F7-
-
-
-
3Gain-
FAAP100p.Y829C
Missense
SNP
0.134
2--
FABP1p.K121E
Missense
SNP
0.516
2--
FABP12-
-
-
-
3Gain-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP9-
-
-
-
3Gain-
FAM110B-
-
-
-
3Gain-
FAM124Ap.R472M
Missense
SNP
0.160
3Gain-
FAM126Ap.I230T
Missense
SNP
0.629
3Gain-
FAM131B-
-
-
-
3Gain-
FAM133B-
-
-
-
3Gain-
FAM135B-
-
-
-
3Gain-
FAM155A-
-
-
-
3Gain-
FAM180A-
-
-
-
3Gain-
FAM185A-
-
-
-
3Gain-
FAM200A-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM216B-
-
-
-
3Gain-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM3C-
-
-
-
3Gain-
FAM49B-
-
-
-
3Gain-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM83A-
-
-
-
3Gain-
FAM83H-
-
-
-
3Gain-
FAM84B-
-
-
-
3Gain-
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
3Gain-
FARP1-
-
-
-
3Gain-
FASNp.R2026H
Missense
SNP
0.232
2--
FASTK-
-
-
-
3Gain-
FAT3p.A4049T
Missense
SNP
0.271
2--
FBXL13-
-
-
-
3Gain-
FBXL18-
-
-
-
3Gain-
FBXL3-
-
-
-
3Gain-
FBXL6-
-
-
-
3Gain-
FBXO24-
-
-
-
3Gain-
FBXO32-
-
-
-
3Gain-
FBXO43-
-
-
-
3Gain-
FBXW11p.X463_splice
Splice_Site
SNP
0.464
2--
FCGBPp.H3648Y
Missense
SNP
0.506
2--
FER1L5p.A756D
Missense
SNP
0.484
2--
FER1L6-
-
-
-
3Gain-
FERD3L-
-
-
-
3Gain-
FESp.G641V
Missense
SNP
0.470
2--
FEZF1-
-
-
-
3Gain-
FGF12p.V111M
Missense
SNP
0.471
2--
FGF14-
-
-
-
3Gain-
FGF9-
-
-
-
3Gain-
FGL2-
-
-
-
3Gain-
FHOD3p.R1538*
Nonsense
SNP
0.235
2--
FIGNL1-
-
-
-
3Gain-
FIS1-
-
-
-
3Gain-
FKBP14-
-
-
-
3Gain-
FKBP6-
-
-
-
3Gain-
FKBP9-
-
-
-
3Gain-
FLNC-
-
-
-
3Gain-
FLRT2-
-
-
-
3Gain-
FLT1-
-
-
-
3Gain-
FLT3-
-
-
-
3Gain-
FMC1-
-
-
-
3Gain-
FNDC3A-
-
-
-
3Gain-
FOXH1-
-
-
-
3Gain-
FOXK1-
-
-
-
3Gain-
FOXO1-
-
-
-
3Gain-
FOXP2-
-
-
-
3Gain-
FREM2-
-
-
-
3Gain-
FRY-
-
-
-
3Gain-
FSBP-
-
-
-
3Gain-
FSCN1p.A475T
Missense
SNP
0.328
3Gain-
FSCN3p.R101Q
Missense
SNP
0.183
3Gain-
FYCO1p.A776V
Missense
SNP
0.585
2--
FZD1-
-
-
-
3Gain-
FZD6-
-
-
-
3Gain-
FZD9-
-
-
-
3Gain-
GAL3ST4-
-
-
-
3Gain-
GALCp.K474*
Nonsense
SNP
0.435
2--
GALNT11-
-
-
-
3Gain-
GALNT17-
-
-
-
3Gain-
GALNTL5-
-
-
-
3Gain-
GALNTL6p.L30M
Missense
SNP
0.191
2--
GARS-
-
-
-
3Gain-
GAS6-
-
-
-
3Gain-
GATAD1-
-
-
-
3Gain-
GBE1-
-
-
-
3Gain-
GBX1-
-
-
-
3Gain-
GCC1-
-
-
-
3Gain-
GCK-
-
-
-
3Gain-
GCN1p.K475N
Missense
SNP
0.389
2--
GDAP1-
-
-
-
3Gain-
GDF6-
-
-
-
3Gain-
GDPD1p.V186A
Missense
SNP
0.255
2--
GEM-
-
-
-
3Gain-
GET4-
-
-
-
3Gain-
GGACT-
-
-
-
3Gain-
GGCT-
-
-
-
3Gain-
GGH-
-
-
-
3Gain-
GHRHR-
-
-
-
3Gain-
GIGYF1-
-
-
-
3Gain-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4-
-
-
-
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6-
-
-
-
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GJA3-
-
-
-
3Gain-
GJB2-
-
-
-
3Gain-
GJB6-
-
-
-
3Gain-
GJC3-
-
-
-
3Gain-
GLCCI1-
-
-
-
3Gain-
GLI3p.A1549V
Missense
SNP
0.350
3Gain-
GLI4-
-
-
-
3Gain-
GLULp.A191V
Missense
SNP
0.484
2--
GLYR1p.V12A
Missense
SNP
0.433
2--
GML-
-
-
-
3Gain-
GNA12-
-
-
-
3Gain-
GNAI1-
-
-
-
3Gain-
GNAI2-
-
-
-
3Gain-
GNAT1-
-
-
-
3Gain-
GNAT3-
-
-
-
3Gain-
GNB2-
-
-
-
3Gain-
GNG11-
-
-
-
3Gain-
GNGT1-
-
-
-
3Gain-
GOLGA4p.R312C
Missense
SNP
0.462
2--
GPAA1-
-
-
-
3Gain-
GPALPP1-
-
-
-
3Gain-
GPBAR1p.E169K
Missense
SNP
0.487
2--
GPC2-
-
-
-
3Gain-
GPC5-
-
-
-
3Gain-
GPC6p.X430_splice
Splice_Site
SNP
0.546
3Gain-
GPER1-
-
-
-
3Gain-
GPHNp.E178D
Missense
SNP
0.260
2--
GPIHBP1-
-
-
-
3Gain-
GPNMB-
-
-
-
3Gain-
GPR12-
-
-
-
3Gain-
GPR141-
-
-
-
3Gain-
GPR146-
-
-
-
3Gain-
GPR18-
-
-
-
3Gain-
GPR180-
-
-
-
3Gain-
GPR183-
-
-
-
3Gain-
GPR20-
-
-
-
3Gain-
GPR22-
-
-
-
3Gain-
GPR26p.T191M
Missense
SNP
0.373
2--
GPR37-
-
-
-
3Gain-
GPR39p.R193H
Missense
SNP
0.451
2--
GPR85-
-
-
-
3Gain-
GPRC5Bp.V131I
Missense
SNP
0.487
2--
GPRIN1p.A974V
Missense
SNP
0.538
2--
GPTp.R31W
Missense
SNP
0.464
3Gain-
GRB10-
-
-
-
3Gain-
GRHL2-
-
-
-
3Gain-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIN2Dp.Y1168C
Missense
SNP
0.462
2--
GRINA-
-
-
-
3Gain-
GRIP1p.A670V
Missense
SNP
0.526
2--
GRK1-
-
-
-
3Gain-
GRK5p.R74M
Missense
SNP
0.468
2--
GRK7p.A146V
Missense
SNP
0.162
2--
GRM3-
-
-
-
3Gain-
GRM8-
-
-
-
3Gain-
GRTP1-
-
-
-
3Gain-
GSAPp.D423E
Missense
SNP
0.369
3Gain-
GSDMC-
-
-
-
3Gain-
GSDMDp.S31P
Missense
SNP
0.104
3Gain-
GSDME-
-
-
-
3Gain-
GSTK1-
-
-
-
3Gain-
GSX1-
-
-
-
3Gain-
GTF2F2-
-
-
-
3Gain-
GTF2I-
-
-
-
3Gain-
GTF2IRD1p.C386Y
Missense
SNP
0.127
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTF3A-
-
-
-
3Gain-
GTPBP10-
-
-
-
3Gain-
GUCY2Dp.A169V
Missense
SNP
0.473
2--
GUSB-
-
-
-
3Gain-
H2AFV-
-
-
-
3Gain-
HARS2p.R327W
Missense
SNP
0.525
2--
HAS2-
-
-
-
3Gain-
HBP1-
-
-
-
3Gain-
HCAR2p.R251W
Missense
SNP
0.231
2--
HDAC6p.A603T
Missense
SNP
0.509
NDND-
HDAC9-
-
-
-
3Gain-
HECW1-
-
-
-
3Gain-
HEPACAM2-
-
-
-
3Gain-
HERPUD2-
-
-
-
3Gain-
HEY1-
-
-
-
3Gain-
HGF-
-
-
-
3Gain-
HGH1-
-
-
-
3Gain-
HHLA1-
-
-
-
3Gain-
HIBADH-
-
-
-
3Gain-
HILPDA-
-
-
-
3Gain-
HIP1-
-
-
-
3Gain-
HIPK2-
-
-
-
3Gain-
HIST1H2BKp.R34P
Missense
SNP
0.181
2--
HIVEP2p.E2025*
p.R1028*
Nonsense
Nonsense
SNP
SNP
0.465
0.548
2--
HMGB1-
-
-
-
3Gain-
HNF4G-
-
-
-
3Gain-
HNRNPA2B1-
-
-
-
3Gain-
HOXA1-
-
-
-
3Gain-
HOXA10p.G285S
Missense
SNP
0.589
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HOXB3p.R192Q
Missense
SNP
0.117
2--
HPNp.A59V
Missense
SNP
0.492
2--
HRp.A492E
Missense
SNP
0.538
2--
HS3ST3B1p.G149D
Missense
SNP
0.239
2--
HS6ST3-
-
-
-
3Gain-
HSBP1L1p.X18_splice
Splice_Site
SNP
0.293
2--
HSF1-
-
-
-
3Gain-
HSPB1-
-
-
-
3Gain-
HSPH1-
-
-
-
3Gain-
HTATIP2p.A150V
Missense
SNP
0.509
2--
HTR2A-
-
-
-
3Gain-
HTR5A-
-
-
-
3Gain-
HUS1-
-
-
-
3Gain-
HYAL4-
-
-
-
3Gain-
IBTKp.S1217R
Missense
SNP
0.188
2--
ICA1-
-
-
-
3Gain-
ICAM5p.G741V
Missense
SNP
0.195
2--
IFRD1-
-
-
-
3Gain-
IFT122p.X91_splice
Splice_Site
SNP
0.458
2--
IFT22-
-
-
-
3Gain-
IFT88-
-
-
-
3Gain-
IGDCC3p.R431W
Missense
SNP
0.510
2--
IGF2BP3-
-
-
-
3Gain-
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGKV2-24p.G91W
Missense
SNP
0.253
NDND-
IKZF1-
-
-
-
3Gain-
IL17D-
-
-
-
3Gain-
IL1Ap.G169C
Missense
SNP
0.174
2--
IL1RAPL1p.R106W
Missense
SNP
0.528
NDND-
IL6-
-
-
-
3Gain-
IL7-
-
-
-
3Gain-
ILF3p.V197I
Missense
SNP
0.339
2--
IMMP2L-
-
-
-
3Gain-
IMPA1-
-
-
-
3Gain-
IMPAD1-
-
-
-
3Gain-
IMPDH1-
-
-
-
3Gain-
ING1-
-
-
-
3Gain-
ING3-
-
-
-
3Gain-
INHBA-
-
-
-
3Gain-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INPP5Ap.V229I
Missense
SNP
0.353
2--
INSIG1-
-
-
-
3Gain-
INTS1p.L1244Q
Missense
SNP
0.302
3Gain-
INTS4p.G307D
Missense
SNP
0.456
2--
INTS6-
-
-
-
3Gain-
INTS8-
-
-
-
3Gain-
IPO11p.Q975*
Nonsense
SNP
0.512
2--
IPO5-
-
-
-
3Gain-
IQANK1-
-
-
-
3Gain-
IQCE-
-
-
-
3Gain-
IQUB-
-
-
-
3Gain-
IRF5-
-
-
-
3Gain-
IRF9p.S359N
Missense
SNP
0.438
2--
IRS2-
-
-
-
3Gain-
IRX1p.A356T
Missense
SNP
0.511
2--
IRX2p.A74D
Missense
SNP
0.565
2--
ISL2p.R215Q
Missense
SNP
0.405
2--
ISPD-
-
-
-
3Gain-
ITGA10p.G880E
Missense
SNP
0.476
2--
ITGA9p.R14C
Missense
SNP
0.411
2--
ITGB8-
-
-
-
3Gain-
ITGBL1-
-
-
-
3Gain-
ITM2B-
-
-
-
3Gain-
ITPRID1-
-
-
-
3Gain-
JAG1p.A336V
Missense
SNP
0.231
2--
JAZF1-
-
-
-
3Gain-
JPH1-
-
-
-
3Gain-
JRK-
-
-
-
3Gain-
KATNAL1-
-
-
-
3Gain-
KAZNp.R27*
Nonsense
SNP
0.167
2--
KBTBD2-
-
-
-
3Gain-
KBTBD6-
-
-
-
3Gain-
KBTBD7-
-
-
-
3Gain-
KCNB2-
-
-
-
3Gain-
KCND2-
-
-
-
3Gain-
KCNH2p.A169T
Missense
SNP
0.216
3Gain-
KCNJ6p.R46*
Nonsense
SNP
0.509
2--
KCNK9-
-
-
-
3Gain-
KCNQ3-
-
-
-
3Gain-
KCNRG-
-
-
-
3Gain-
KCNS2-
-
-
-
3Gain-
KCNT2-
-
-
-
3Gain-
KCNV1-
-
-
-
5Amp-
KCP-
-
-
-
3Gain-
KCTD12-
-
-
-
3Gain-
KCTD4-
-
-
-
3Gain-
KCTD7-
-
-
-
3Gain-
KDELC1-
-
-
-
3Gain-
KDELR2-
-
-
-
3Gain-
KDM6Ap.Y362C
Missense
SNP
0.469
NDND-
KDM7A-
-
-
-
3Gain-
KEL-
-
-
-
3Gain-
KHDRBS3-
-
-
-
3Gain-
KIAA0368p.A1320V
Missense
SNP
0.105
NDND-
KIAA0895-
-
-
-
3Gain-
KIAA1147-
-
-
-
3Gain-
KIAA1324L-
-
-
-
3Gain-
KIAA1549p.X1592_splice
Splice_Site
SNP
0.276
3Gain-
KIAA1549Lp.P327L
Missense
SNP
0.140
2--
KIF19p.E573K
Missense
SNP
0.440
2--
KIF4Ap.T995A
Missense
SNP
0.500
NDND-
KIFC2-
-
-
-
3Gain-
KL-
-
-
-
3Gain-
KLF10-
-
-
-
3Gain-
KLF12-
-
-
-
3Gain-
KLF14-
-
-
-
3Gain-
KLF5-
-
-
-
3Gain-
KLHDC10-
-
-
-
3Gain-
KLHL1-
-
-
-
3Gain-
KLHL34p.P245L
Missense
SNP
0.430
NDND-
KLHL38p.M414V
Missense
SNP
0.434
3Gain-
KLHL7-
-
-
-
3Gain-
KLK13p.R190H
Missense
SNP
0.468
2--
KLRG2-
-
-
-
3Gain-
KMT2C-
-
-
-
3Gain-
KMT2E-
-
-
-
3Gain-
KPNA3-
-
-
-
3Gain-
KPNA7-
-
-
-
3Gain-
KRBA1-
-
-
-
3Gain-
KRIT1-
-
-
-
3Gain-
LACC1-
-
-
-
3Gain-
LACTB2-
-
-
-
3Gain-
LAMB1-
-
-
-
3Gain-
LAMB4-
-
-
-
3Gain-
LAMP1-
-
-
-
3Gain-
LAMTOR4-
-
-
-
3Gain-
LANCL2-
-
-
-
3Gain-
LAPTM4B-
-
-
-
3Gain-
LAT2-
-
-
-
3Gain-
LATS2-
-
-
-
3Gain-
LAYNp.R20W
Missense
SNP
0.541
2--
LCKp.T499M
Missense
SNP
0.476
2--
LCP1-
-
-
-
3Gain-
LDHBp.P183S
Missense
SNP
0.398
2--
LEP-
-
-
-
3Gain-
LFNG-
-
-
-
3Gain-
LGI2p.C194R
Missense
SNP
0.474
2--
LHFPL3-
-
-
-
3Gain-
LHFPL6-
-
-
-
3Gain-
LIG4-
-
-
-
3Gain-
LIMK1-
-
-
-
3Gain-
LIMK2p.X499_splice
Splice_Site
SNP
0.172
2--
LINC01276.
Splice_Site
SNP
0.537
NDND-
LIPGp.V121I
Missense
SNP
0.372
2--
LIPHp.F241S
Missense
SNP
0.341
2--
LLCFC1-
-
-
-
3Gain-
LMBR1-
-
-
-
3Gain-
LMO2p.L112P
Missense
SNP
0.462
2--
LMO7-
-
-
-
3Gain-
LMOD2-
-
-
-
3Gain-
LMTK2-
-
-
-
3Gain-
LNX2-
-
-
-
3Gain-
LONRF2p.E194K
Missense
SNP
0.434
2--
LPAR6-
-
-
-
3Gain-
LPIN2p.M743T
Missense
SNP
0.395
2--
LRCH1-
-
-
-
3Gain-
LRCH4p.Q264R
Missense
SNP
0.371
3Gain-
LRGUK-
-
-
-
3Gain-
LRIT3p.A123T
Missense
SNP
0.172
2--
LRP1p.R1734H
Missense
SNP
0.269
2--
LRP12-
-
-
-
3Gain-
LRP1Bp.R3239H
Missense
SNP
0.488
2--
LRRC14-
-
-
-
3Gain-
LRRC17-
-
-
-
3Gain-
LRRC24-
-
-
-
3Gain-
LRRC37A-
-
-
-
1Loss-
LRRC37A2-
-
-
-
1Loss-
LRRC4p.A142T
Missense
SNP
0.291
3Gain-
LRRC4Bp.R547W
Missense
SNP
0.491
2--
LRRC6-
-
-
-
3Gain-
LRRC61-
-
-
-
3Gain-
LRRC63-
-
-
-
3Gain-
LRRC69-
-
-
-
3Gain-
LRRC72-
-
-
-
3Gain-
LRRCC1-
-
-
-
3Gain-
LRRD1-
-
-
-
3Gain-
LRRN3-
-
-
-
3Gain-
LRRTM4-
-
-
-
3Gain-
LRTM2p.R240W
Missense
SNP
0.626
2--
LRWD1-
-
-
-
3Gain-
LSM5-
-
-
-
3Gain-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LUC7L2-
-
-
-
3Gain-
LUZP6-
-
-
-
3Gain-
LY6D-
-
-
-
3Gain-
LY6E-
-
-
-
3Gain-
LY6H-
-
-
-
3Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
3Gain-
LY96-
-
-
-
3Gain-
LYN-
-
-
-
3Gain-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD2-
-
-
-
3Gain-
LYPLA1-
-
-
-
3Gain-
LYSTp.L1109I
Missense
SNP
0.400
2--
MAB21L1-
-
-
-
3Gain-
MACC1-
-
-
-
3Gain-
MAD1L1-
-
-
-
3Gain-
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAFK-
-
-
-
3Gain-
MAGI2-
-
-
-
3Gain-
MAL2-
-
-
-
3Gain-
MALSU1-
-
-
-
3Gain-
MAP1Ap.V2482L
Missense
SNP
0.498
2--
MAP2K2p.L46V
Missense
SNP
0.429
2--
MAPK11-
-
-
-
3Gain-
MAPK12-
-
-
-
3Gain-
MAPK15-
-
-
-
3Gain-
MAPK8IP1p.A541T
Missense
SNP
0.468
2--
MATN2-
-
-
-
3Gain-
MAZp.Y433C
Missense
SNP
0.462
2--
MBD5p.G514V
Missense
SNP
0.538
2--
MBLAC1-
-
-
-
3Gain-
MBNL2-
-
-
-
3Gain-
MCF2L-
-
-
-
3Gain-
MCM3APp.A544T
Missense
SNP
0.157
2--
MCM4-
-
-
-
3Gain-
MCM7-
-
-
-
3Gain-
MCMDC2-
-
-
-
3Gain-
MDFIC-
-
-
-
3Gain-
MDH2-
-
-
-
3Gain-
MDN1p.A4990V
Missense
SNP
0.432
2--
MECP2p.R267Q
Missense
SNP
0.425
NDND-
MED1p.G1432D
Missense
SNP
0.167
2--
MED12Lp.P1720L
Missense
SNP
0.426
2--
MED30-
-
-
-
3Gain-
MED4-
-
-
-
3Gain-
MEDAG-
-
-
-
3Gain-
MEF2Cp.G115C
Missense
SNP
0.523
2--
MEGF8p.Y2600C
Missense
SNP
0.153
2--
MEIS1p.R276H
Missense
SNP
0.515
2--
MEOX2-
-
-
-
3Gain-
MEPCE-
-
-
-
3Gain-
MEST-
-
-
-
3Gain-
METp.T230M
Missense
SNP
0.170
3Gain-
METTL21C-
-
-
-
3Gain-
METTL27-
-
-
-
3Gain-
METTL2B-
-
-
-
3Gain-
MFSD3-
-
-
-
3Gain-
MFSD5p.V110A
Missense
SNP
0.431
2--
MGAM-
-
-
-
3Gain-
MGAM2-
-
-
-
3Gain-
MICALL2-
-
-
-
3Gain-
MICU2-
-
-
-
3Gain-
MINDY4-
-
-
-
3Gain-
MIOS-
-
-
-
3Gain-
MIPEP-
-
-
-
3Gain-
MKI67p.A403T
Missense
SNP
0.276
2--
MKLN1-
-
-
-
3Gain-
MKRN1-
-
-
-
3Gain-
MLIPp.T107A
Missense
SNP
0.182
2--
MLNR-
-
-
-
3Gain-
MLXIPL-
-
-
-
3Gain-
MMD2-
-
-
-
3Gain-
MMP16-
-
-
-
3Gain-
MMP17p.R289C
Missense
SNP
0.163
2--
MMP23B-
-
-
-
1Loss-
MNX1-
-
-
-
3Gain-
MOGAT3-
-
-
-
3Gain-
MOS-
-
-
-
3Gain-
MOSPD3-
-
-
-
3Gain-
MPHOSPH8-
-
-
-
3Gain-
MPLKIP-
-
-
-
3Gain-
MPP6-
-
-
-
3Gain-
MRM2-
-
-
-
3Gain-
MROH1-
-
-
-
3Gain-
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
3Gain-
MROH7p.E1205G
Missense
SNP
0.234
2--
MRPL13-
-
-
-
3Gain-
MRPL15-
-
-
-
3Gain-
MRPL32-
-
-
-
3Gain-
MRPL57-
-
-
-
3Gain-
MRPS17-
-
-
-
3Gain-
MRPS24-
-
-
-
3Gain-
MRPS28-
-
-
-
3Gain-
MRPS31-
-
-
-
3Gain-
MRPS33-
-
-
-
3Gain-
MSC-
-
-
-
3Gain-
MSGN1p.G185S
Missense
SNP
0.219
2--
MSH6p.R1034Q
Missense
SNP
0.378
2--
MST1p.C576Y
Missense
SNP
0.212
2--
MTBP-
-
-
-
3Gain-
MTDH-
-
-
-
3Gain-
MTERF1-
-
-
-
3Gain-
MTERF3-
-
-
-
3Gain-
MTFR1-
-
-
-
3Gain-
MTIF3-
-
-
-
3Gain-
MTMR6-
-
-
-
3Gain-
MTORp.A1271T
Missense
SNP
0.464
2--
MTPN-
-
-
-
3Gain-
MTRF1-
-
-
-
3Gain-
MTSS1-
-
-
-
3Gain-
MTURN-
-
-
-
3Gain-
MTUS1p.M426T
Missense
SNP
0.139
2--
MTUS2-
-
-
-
3Gain-
MUC12-
-
-
-
3Gain-
MUC16p.T12742S
p.A9967E
Missense
Missense
SNP
SNP
0.106
0.535
2--
MUC17-
-
-
-
3Gain-
MUC3A-
-
-
-
3Gain-
MYBL1-
-
-
-
3Gain-
MYC-
-
-
-
3Gain-
MYCBP2-
-
-
-
3Gain-
MYL10-
-
-
-
3Gain-
MYL7-
-
-
-
3Gain-
MYO10p.A745V
Missense
SNP
0.229
2--
MYO16-
-
-
-
3Gain-
MYO1G-
-
-
-
3Gain-
MZT1-
-
-
-
3Gain-
N4BP2L1-
-
-
-
3Gain-
N4BP2L2-
-
-
-
3Gain-
NAA16-
-
-
-
3Gain-
NACAD-
-
-
-
3Gain-
NALCNp.R155W
Missense
SNP
0.158
3Gain-
NAMPT-
-
-
-
3Gain-
NAPEPLD-
-
-
-
3Gain-
NAPRT-
-
-
-
3Gain-
NAT16-
-
-
-
3Gain-
NAV3p.T1815M
Missense
SNP
0.467
2--
NAXD-
-
-
-
3Gain-
NBASp.A1339T
Missense
SNP
0.460
2--
NBEA-
-
-
-
3Gain-
NBN-
-
-
-
3Gain-
NCALD-
-
-
-
3Gain-
NCAPG2-
-
-
-
3Gain-
NCBP1p.D606V
Missense
SNP
0.500
2--
NCF1-
-
-
-
3Gain-
NCKAP5p.A1096T
Missense
SNP
0.509
2--
NCOA2-
-
-
-
3Gain-
NDFIP2-
-
-
-
3Gain-
NDRG1-
-
-
-
3Gain-
NDUFA4-
-
-
-
3Gain-
NDUFA5-
-
-
-
3Gain-
NDUFAF6-
-
-
-
3Gain-
NDUFB2-
-
-
-
3Gain-
NDUFB9-
-
-
-
3Gain-
NECAB1-
-
-
-
3Gain-
NECTIN2p.P452S
Missense
SNP
0.215
2--
NEGR1-
-
-
-
3Gain-
NEK3-
-
-
-
3Gain-
NEK5-
-
-
-
3Gain-
NEU3p.G28V
Missense
SNP
0.179
2--
NEUROD4p.T78I
Missense
SNP
0.402
2--
NEUROD6-
-
-
-
3Gain-
NFE2L3-
-
-
-
3Gain-
NFE4-
-
-
-
3Gain-
NHLRC3-
-
-
-
3Gain-
NIM1Kp.T311M
Missense
SNP
0.447
2--
NIPAL2-
-
-
-
3Gain-
NIPSNAP2-
-
-
-
3Gain-
NKAIN3-
-
-
-
3Gain-
NME8-
-
-
-
3Gain-
NOBOX-
-
-
-
3Gain-
NOD1-
-
-
-
3Gain-
NOM1-
-
-
-
3Gain-
NOS3p.R728W
Missense
SNP
0.315
3Gain-
NOV-
-
-
-
3Gain-
NPBWR1p.A245T
Missense
SNP
0.646
3Gain-
NPBWR2p.A267V
Missense
SNP
0.339
2--
NPC1L1-
-
-
-
3Gain-
NPPBp.S110F
Missense
SNP
0.438
2--
NPSR1-
-
-
-
3Gain-
NPTX2-
-
-
-
3Gain-
NPVF-
-
-
-
3Gain-
NPWp.G136A
Missense
SNP
0.329
2--
NPY-
-
-
-
3Gain-
NRBP2-
-
-
-
3Gain-
NRCAM-
-
-
-
3Gain-
NRF1-
-
-
-
3Gain-
NRIP3p.A32V
Missense
SNP
0.574
2--
NRROSp.L83P
Missense
SNP
0.296
2--
NSD1p.Y1400C
Missense
SNP
0.328
2--
NSF-
-
-
-
1Loss-
NSMAF-
-
-
-
3Gain-
NSMCE2-
-
-
-
3Gain-
NSUN5-
-
-
-
3Gain-
NT5C2p.Y27H
Missense
SNP
0.210
2--
NT5C3A-
-
-
-
3Gain-
NTHL1p.T171M
Missense
SNP
0.178
2--
NTSR2p.R67H
Missense
SNP
0.412
2--
NUB1-
-
-
-
3Gain-
NUDCD1-
-
-
-
3Gain-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT15-
-
-
-
3Gain-
NUDT17p.R141*
Nonsense
SNP
0.292
2--
NUFIP1-
-
-
-
3Gain-
NUP205-
-
-
-
3Gain-
NUP58p.G451V
Missense
SNP
0.270
3Gain-
NUPL2-
-
-
-
3Gain-
NUPR2-
-
-
-
3Gain-
NXF1p.S575T
Missense
SNP
0.319
2--
NXPH1-
-
-
-
3Gain-
NYAP1-
-
-
-
3Gain-
OAS3p.R812*
Nonsense
SNP
0.425
2--
OC90-
-
-
-
3Gain-
OCM-
-
-
-
3Gain-
OCM2-
-
-
-
3Gain-
OCRLp.R552C
Missense
SNP
0.542
NDND-
ODF1-
-
-
-
3Gain-
OGDH-
-
-
-
3Gain-
OLFM4-
-
-
-
3Gain-
OPLAH-
-
-
-
3Gain-
OPN1SW-
-
-
-
3Gain-
OPRK1-
-
-
-
3Gain-
OR13A1p.A66T
Missense
SNP
0.466
2--
OR13C9p.L103I
Missense
SNP
0.180
2--
OR2A1-
-
-
-
3Gain-
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A42-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2A7-
-
-
-
3Gain-
OR2AE1-
-
-
-
3Gain-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR4K1-
-
-
-
3Gain-
OR4K2-
-
-
-
3Gain-
OR4K5-
-
-
-
3Gain-
OR4M1-
-
-
-
3Gain-
OR4N2-
-
-
-
3Gain-
OR4Q3-
-
-
-
3Gain-
OR52K1p.A190V
Missense
SNP
0.517
2--
OR6B1-
-
-
-
3Gain-
OR6C74p.A235S
Missense
SNP
0.511
2--
OR6V1-
-
-
-
3Gain-
OR8H1p.S264T
Missense
SNP
0.270
2--
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
ORAI2-
-
-
-
3Gain-
ORC5-
-
-
-
3Gain-
OSBPL3p.X773_splice
Splice_Site
SNP
0.438
3Gain-
OSGIN2-
-
-
-
3Gain-
OSR2-
-
-
-
3Gain-
OTOFp.K1306E
Missense
SNP
0.259
2--
OTUD6B-
-
-
-
3Gain-
OXGR1-
-
-
-
3Gain-
OXR1-
-
-
-
3Gain-
PABPC1-
-
-
-
3Gain-
PABPC3p.R41Q
Missense
SNP
0.331
3Gain-
PAG1-
-
-
-
3Gain-
PALMDp.H303R
Missense
SNP
0.538
2--
PAN3p.V42I
Missense
SNP
0.286
3Gain-
PAPOLB-
-
-
-
3Gain-
PARP10-
-
-
-
3Gain-
PARP12-
-
-
-
3Gain-
PARP4-
-
-
-
3Gain-
PAX4-
-
-
-
3Gain-
PAXIP1-
-
-
-
3Gain-
PCBP3p.T370M
Missense
SNP
0.452
2--
PCCA-
-
-
-
3Gain-
PCDH10p.R634C
Missense
SNP
0.554
2--
PCDH17-
-
-
-
3Gain-
PCDH20-
-
-
-
3Gain-
PCDH8-
-
-
-
3Gain-
PCDH9-
-
-
-
3Gain-
PCDHGA1p.A637V
Missense
SNP
0.568
2--
PCDHGB4p.S509R
Missense
SNP
0.230
2--
PCID2-
-
-
-
3Gain-
PCLO-
-
-
-
3Gain-
PCMTD1-
-
-
-
3Gain-
PCOLCE-
-
-
-
3Gain-
PCSK1p.A217P
Missense
SNP
0.505
2--
PCSK1Np.A68V
Missense
SNP
0.535
NDND-
PCSK7p.E443A
Missense
SNP
0.158
2--
PDAP1-
-
-
-
3Gain-
PDE1C-
-
-
-
3Gain-
PDE7A-
-
-
-
3Gain-
PDE8Ap.L13M
Missense
SNP
0.232
2--
PDGFA-
-
-
-
3Gain-
PDIA4-
-
-
-
3Gain-
PDK4-
-
-
-
3Gain-
PDP1-
-
-
-
3Gain-
PDS5B-
-
-
-
3Gain-
PDX1-
-
-
-
3Gain-
PEG10-
-
-
-
3Gain-
PENK-
-
-
-
3Gain-
PER3p.T966A
Missense
SNP
0.188
2--
PEX1-
-
-
-
3Gain-
PEX2-
-
-
-
3Gain-
PGAM2-
-
-
-
3Gain-
PGLYRP2p.R558H
Missense
SNP
0.535
2--
PHF11-
-
-
-
3Gain-
PHF14-
-
-
-
3Gain-
PHF20p.R49C
Missense
SNP
0.412
2--
PHF20L1-
-
-
-
3Gain-
PHF8p.P878S
Missense
SNP
0.561
NDND-
PHKG1p.A257V
Missense
SNP
0.370
3Gain-
PHLPP1p.I823M
Missense
SNP
0.200
2--
PHTF2-
-
-
-
3Gain-
PI15-
-
-
-
3Gain-
PIBF1-
-
-
-
3Gain-
PICALMp.N524K
Missense
SNP
0.460
2--
PIGAp.R285H
Missense
SNP
0.326
NDND-
PIK3CG-
-
-
-
3Gain-
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PIP-
-
-
-
3Gain-
PIP4P2-
-
-
-
3Gain-
PIP5K1Cp.D490N
Missense
SNP
0.260
2--
PITPNM1p.P11S
Missense
SNP
0.254
2--
PIWIL4p.P244S
Missense
SNP
0.558
2--
PKD1p.Y1627F
Missense
SNP
0.469
2--
PKD1L1-
-
-
-
3Gain-
PKHD1L1-
-
-
-
3Gain-
PKIA-
-
-
-
3Gain-
PLA2G4A-
-
-
-
3Gain-
PLAG1-
-
-
-
3Gain-
PLCB1p.L678V
Missense
SNP
0.225
2--
PLEC-
-
-
-
3Gain-
PLEKHA8-
-
-
-
3Gain-
PLEKHF2-
-
-
-
3Gain-
PLEKHO1p.E265*
Nonsense
SNP
0.229
2--
PLOD3-
-
-
-
3Gain-
PLVAPp.K327E
Missense
SNP
0.243
2--
PLXNA4-
-
-
-
3Gain-
PLXNB2-
-
-
-
3Gain-
PMP2-
-
-
-
3Gain-
PMPCB-
-
-
-
3Gain-
PMS2-
-
-
-
3Gain-
PNPLA8-
-
-
-
3Gain-
PODXL-
-
-
-
3Gain-
POLD2-
-
-
-
3Gain-
POLM-
-
-
-
3Gain-
POLR1D-
-
-
-
3Gain-
POLR2Ap.R1059Q
Missense
SNP
0.577
2--
POLR2J-
-
-
-
3Gain-
POLR2J2-
-
-
-
3Gain-
POLR2J3-
-
-
-
3Gain-
POLR2K-
-
-
-
3Gain-
POLR3Fp.Q49H
Missense
SNP
0.233
2--
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12-
-
-
-
3Gain-
POMP-
-
-
-
3Gain-
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP1-
-
-
-
3Gain-
POP7-
-
-
-
3Gain-
POR-
-
-
-
3Gain-
POSTN-
-
-
-
3Gain-
POT1-
-
-
-
3Gain-
POU4F1-
-
-
-
3Gain-
POU5F1B-
-
-
-
3Gain-
POU6F2-
-
-
-
3Gain-
PPDPFL-
-
-
-
3Gain-
PPFIA3p.S519A
p.S786I
Missense
Missense
SNP
SNP
0.366
0.146
2--
PPIA-
-
-
-
3Gain-
PPLp.S1131G
Missense
SNP
0.222
2--
PPP1R12Bp.R476Q
Missense
SNP
0.483
2--
PPP1R16A-
-
-
-
3Gain-
PPP1R17-
-
-
-
3Gain-
PPP1R35-
-
-
-
3Gain-
PPP1R3A-
-
-
-
3Gain-
PPP1R42-
-
-
-
3Gain-
PPP1R9A-
-
-
-
3Gain-
PRC1p.R517Q
Missense
SNP
0.406
2--
PRDM14-
-
-
-
3Gain-
PREX2-
-
-
-
3Gain-
PRKAA1p.*575Qext*?
Nonstop
SNP
0.464
2--
PRKAG2-
-
-
-
3Gain-
PRKAR1B-
-
-
-
3Gain-
PRKAR2B-
-
-
-
3Gain-
PRKCDp.A137V
Missense
SNP
0.475
2--
PRKDC-
-
-
-
3Gain-
PRKRIP1-
-
-
-
3Gain-
PRMT5p.S446L
Missense
SNP
0.350
2--
PROSER1-
-
-
-
3Gain-
PROZ-
-
-
-
3Gain-
PRPF8p.M1622T
Missense
SNP
0.428
2--
PRPS1L1-
-
-
-
3Gain-
PRR15-
-
-
-
3Gain-
PRRT4-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS2-
-
-
-
3Gain-
PRSS37-
-
-
-
3Gain-
PRSS58-
-
-
-
3Gain-
PRUNE2p.E1676D
Missense
SNP
0.253
2--
PSCA-
-
-
-
3Gain-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG3p.D50H
Missense
SNP
0.393
2--
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSG9-
-
-
-
1Loss-
PSKH2-
-
-
-
3Gain-
PSMA2-
-
-
-
3Gain-
PSMC2-
-
-
-
3Gain-
PSMD3p.A85V
Missense
SNP
0.255
2--
PSMG3-
-
-
-
3Gain-
PSPC1-
-
-
-
3Gain-
PSPH-
-
-
-
3Gain-
PTAR1p.Q323R
Missense
SNP
0.523
2--
PTCD1-
-
-
-
3Gain-
PTCH1p.P943S
Missense
SNP
0.569
2--
PTCHD1p.V367I
Missense
SNP
0.503
NDND-
PTDSS1-
-
-
-
3Gain-
PTGIRp.G180S
Missense
SNP
0.467
2--
PTK2-
-
-
-
3Gain-
PTN-
-
-
-
3Gain-
PTP4A3-
-
-
-
3Gain-
PTPAp.G37C
Missense
SNP
0.173
NDND-
PTPN12p.S232R
Missense
SNP
0.407
3Gain-
PTPN23p.A1376T
Missense
SNP
0.209
2--
PTPRMp.Q599*
Nonsense
SNP
0.454
2--
PTPRN2-
-
-
-
3Gain-
PTPRZ1-
-
-
-
3Gain-
PTX3p.A96T
Missense
SNP
0.447
2--
PUF60-
-
-
-
3Gain-
PURB-
-
-
-
3Gain-
PUS7-
-
-
-
3Gain-
PVRIG-
-
-
-
3Gain-
PWWP2Bp.W504L
Missense
SNP
0.197
2--
PXDNp.A718T
Missense
SNP
0.151
2--
PXDNL-
-
-
-
3Gain-
PYCR3-
-
-
-
3Gain-
QRFPRp.R43C
Missense
SNP
0.143
2--
RAB19-
-
-
-
3Gain-
RAB20-
-
-
-
3Gain-
RAB2A-
-
-
-
3Gain-
RAB44p.V958M
Missense
SNP
0.742
2--
RABGEF1-
-
-
-
3Gain-
RAC1-
-
-
-
3Gain-
RAD21-
-
-
-
3Gain-
RAD54B-
-
-
-
3Gain-
RADILp.C588Y
Missense
SNP
0.103
3Gain-
RALA-
-
-
-
3Gain-
RALYL-
-
-
-
3Gain-
RAMP3-
-
-
-
3Gain-
RAP1GAP2p.A442T
Missense
SNP
0.193
2--
RAP2A-
-
-
-
3Gain-
RAPGEF5-
-
-
-
3Gain-
RARRES2-
-
-
-
3Gain-
RASA3-
-
-
-
3Gain-
RASA4-
-
-
-
3Gain-
RASA4B-
-
-
-
3Gain-
RASL11A-
-
-
-
3Gain-
RB1-
-
-
-
3Gain-
RB1CC1-
-
-
-
3Gain-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBFOX1p.D137G
Missense
SNP
0.243
2--
RBM12B-
-
-
-
3Gain-
RBM26-
-
-
-
3Gain-
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM48-
-
-
-
3Gain-
RC3H1p.R984C
Missense
SNP
0.134
2--
RCBTB1-
-
-
-
3Gain-
RCBTB2-
-
-
-
3Gain-
RCC1L-
-
-
-
3Gain-
RDH10-
-
-
-
3Gain-
RECQL4-
-
-
-
3Gain-
RELN-
-
-
-
3Gain-
REPIN1-
-
-
-
3Gain-
REREp.S32N
Missense
SNP
0.191
2--
RFC2-
-
-
-
3Gain-
RFC3-
-
-
-
3Gain-
RFXAP-
-
-
-
3Gain-
RGCC-
-
-
-
3Gain-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGRp.V22M
Missense
SNP
0.514
2--
RGS1-
-
-
-
3Gain-
RGS13-
-
-
-
3Gain-
RGS14p.A108V
Missense
SNP
0.418
2--
RGS16p.E164K
Missense
SNP
0.469
2--
RGS18-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS20-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RGS22-
-
-
-
3Gain-
RHAGp.G335V
Missense
SNP
0.292
2--
RHBDD2-
-
-
-
3Gain-
RHEB-
-
-
-
3Gain-
RHPN1-
-
-
-
3Gain-
RIDA-
-
-
-
3Gain-
RIF1p.M998T
Missense
SNP
0.245
2--
RIMBP2p.K1041N
Missense
SNP
0.564
2--
RIMS2-
-
-
-
3Gain-
RINT1-
-
-
-
3Gain-
RIPK2-
-
-
-
3Gain-
RMDN1-
-
-
-
3Gain-
RMI1p.G108*
Nonsense
SNP
0.196
2--
RNASEH2B-
-
-
-
3Gain-
RNF113B-
-
-
-
3Gain-
RNF133-
-
-
-
3Gain-
RNF139-
-
-
-
3Gain-
RNF148-
-
-
-
3Gain-
RNF157p.R91Q
Missense
SNP
0.451
2--
RNF17-
-
-
-
3Gain-
RNF19A-
-
-
-
3Gain-
RNF216-
-
-
-
3Gain-
RNF219-
-
-
-
3Gain-
RNF32-
-
-
-
3Gain-
RNF6-
-
-
-
3Gain-
RNPC3p.K437E
Missense
SNP
0.417
2--
RP1-
-
-
-
3Gain-
RP5-1187M17.10p.R542W
Missense
SNP
0.441
NDND-
RP5-862P8.2p.T1012I
Missense
SNP
0.335
NDND-
RP9-
-
-
-
3Gain-
RPA3-
-
-
-
3Gain-
RPL19p.K181E
Missense
SNP
0.430
2--
RPL21-
-
-
-
3Gain-
RPL30-
-
-
-
3Gain-
RPL7-
-
-
-
3Gain-
RPL8-
-
-
-
3Gain-
RPS20-
-
-
-
3Gain-
RREB1p.S65P
Missense
SNP
0.944
2--
RRM2B-
-
-
-
3Gain-
RRS1-
-
-
-
3Gain-
RSBN1L-
-
-
-
3Gain-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPO2-
-
-
-
3Gain-
RUBCNL-
-
-
-
3Gain-
RUFY2p.S256N
Missense
SNP
0.147
2--
RUNDC3B-
-
-
-
3Gain-
RUNX1T1-
-
-
-
3Gain-
RXFP2-
-
-
-
3Gain-
RYR2p.R2359Q
Missense
SNP
0.387
2--
SACS-
-
-
-
3Gain-
SAMD11p.H582R
Missense
SNP
0.455
2--
SAMD12-
-
-
-
3Gain-
SAMD7p.X29_splice
Splice_Site
SNP
0.489
2--
SAMD9-
-
-
-
3Gain-
SAMD9L-
-
-
-
3Gain-
SAP18-
-
-
-
3Gain-
SAP25-
-
-
-
3Gain-
SBDS-
-
-
-
3Gain-
SBSPON-
-
-
-
3Gain-
SCAMP3p.P146H
Missense
SNP
0.232
2--
SCEL-
-
-
-
3Gain-
SCIN-
-
-
-
3Gain-
SCN4Ap.R22W
Missense
SNP
0.429
2--
SCRIB-
-
-
-
3Gain-
SCRN1-
-
-
-
3Gain-
SCRT1-
-
-
-
3Gain-
SCX-
-
-
-
3Gain-
SDC2-
-
-
-
3Gain-
SDCBP-
-
-
-
3Gain-
SDHAF3-
-
-
-
3Gain-
SDK1-
-
-
-
3Gain-
SDR16C5-
-
-
-
3Gain-
SEC24Dp.V170G
Missense
SNP
0.446
2--
SEC61A1p.R223C
Missense
SNP
0.512
2--
SEC61G-
-
-
-
3Gain-
SEC63p.T153M
Missense
SNP
0.211
2--
SECISBP2p.L637F
Missense
SNP
0.514
2--
SEM1-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA3F-
-
-
-
3Gain-
SEMA6Cp.A891P
Missense
SNP
0.600
2--
SEPT14-
-
-
-
3Gain-
SEPT7-
-
-
-
3Gain-
SERP2-
-
-
-
3Gain-
SERPINE1-
-
-
-
3Gain-
SERPINE3-
-
-
-
3Gain-
SERTM1-
-
-
-
3Gain-
SETDB2-
-
-
-
3Gain-
SFRP4-
-
-
-
3Gain-
SGCE-
-
-
-
3Gain-
SGCG-
-
-
-
3Gain-
SGK3-
-
-
-
3Gain-
SH2B2-
-
-
-
3Gain-
SH3TC1p.E702D
Missense
SNP
0.485
2--
SHARPIN-
-
-
-
3Gain-
SHH-
-
-
-
3Gain-
SHISA2-
-
-
-
3Gain-
SHROOM4p.R1431W
Missense
SNP
0.361
NDND-
SHTN1p.E412*
Nonsense
SNP
0.394
2--
SIAH3-
-
-
-
3Gain-
SKA3-
-
-
-
3Gain-
SKAP2-
-
-
-
3Gain-
SLA-
-
-
-
3Gain-
SLAIN1-
-
-
-
3Gain-
SLC10A2-
-
-
-
3Gain-
SLC10A5-
-
-
-
3Gain-
SLC11A2p.I195V
Missense
SNP
0.494
2--
SLC12A9-
-
-
-
3Gain-
SLC13A1-
-
-
-
3Gain-
SLC13A4-
-
-
-
3Gain-
SLC15A1-
-
-
-
3Gain-
SLC25A13-
-
-
-
3Gain-
SLC25A15p.G165D
Missense
SNP
0.171
3Gain-
SLC25A30-
-
-
-
3Gain-
SLC25A32-
-
-
-
3Gain-
SLC25A38p.R6G
Missense
SNP
0.472
2--
SLC25A40-
-
-
-
3Gain-
SLC25A42p.K212E
Missense
SNP
0.450
2--
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A7-
-
-
-
3Gain-
SLC29A4-
-
-
-
3Gain-
SLC30A8-
-
-
-
3Gain-
SLC35B4-
-
-
-
3Gain-
SLC35E2A-
-
-
-
1Loss-
SLC35E2B-
-
-
-
1Loss-
SLC36A1p.A438T
Missense
SNP
0.530
2--
SLC37A3-
-
-
-
3Gain-
SLC38A3-
-
-
-
3Gain-
SLC38A7-
-
-
-
1Loss-
SLC39A4-
-
-
-
3Gain-
SLC45A4-
-
-
-
3Gain-
SLC46A3-
-
-
-
3Gain-
SLC47A2p.D11N
Missense
SNP
0.505
2--
SLC4A2-
-
-
-
3Gain-
SLC52A2-
-
-
-
3Gain-
SLC7A1-
-
-
-
3Gain-
SLC7A13-
-
-
-
3Gain-
SLCO5A1-
-
-
-
3Gain-
SLIT1p.A1015T
Missense
SNP
0.432
2--
SLITRK1-
-
-
-
3Gain-
SLITRK2p.T288I
p.Q371*
Missense
Nonsense
SNP
SNP
0.381
0.391
NDND-
SLITRK5-
-
-
-
3Gain-
SLITRK6-
-
-
-
3Gain-
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SMAD9-
-
-
-
3Gain-
SMARCD3-
-
-
-
3Gain-
SMG1p.L2827P
Missense
SNP
0.250
2--
SMIM2-
-
-
-
3Gain-
SMIM30-
-
-
-
3Gain-
SMKR1-
-
-
-
3Gain-
SMO-
-
-
-
3Gain-
SMOXp.V109M
Missense
SNP
0.576
2--
SMURF1-
-
-
-
3Gain-
SNAI2-
-
-
-
3Gain-
SND1-
-
-
-
3Gain-
SNRNP70p.E344D
Missense
SNP
0.147
2--
SNRPB2p.F210I
Missense
SNP
0.452
2--
SNTB1-
-
-
-
3Gain-
SNTG1-
-
-
-
3Gain-
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX16-
-
-
-
3Gain-
SNX31-
-
-
-
3Gain-
SNX8-
-
-
-
3Gain-
SOHLH2-
-
-
-
3Gain-
SORCS1p.X581_splice
Splice_Site
SNP
0.193
2--
SOSTDC1-
-
-
-
3Gain-
SOX1-
-
-
-
3Gain-
SOX11p.R204H
Missense
SNP
0.236
2--
SOX17-
-
-
-
3Gain-
SOX21-
-
-
-
3Gain-
SOX9p.R437P
Missense
SNP
0.433
2--
SP4-
-
-
-
3Gain-
SP8p.R445C
Missense
SNP
0.285
3Gain-
SPACA7-
-
-
-
3Gain-
SPAG1-
-
-
-
3Gain-
SPAM1-
-
-
-
3Gain-
SPART-
-
-
-
3Gain-
SPATA13-
-
-
-
3Gain-
SPATA32p.P279H
Missense
SNP
0.469
2--
SPATA48-
-
-
-
3Gain-
SPATC1-
-
-
-
3Gain-
SPDYE3-
-
-
-
3Gain-
SPEGp.R689H
Missense
SNP
0.630
2--
SPENp.V489I
Missense
SNP
0.494
2--
SPERT-
-
-
-
3Gain-
SPG20p.W419C
Missense
SNP
0.279
NDND-
SPHKAPp.E1203K
Missense
SNP
0.507
2--
SPIDR-
-
-
-
3Gain-
SPRY2-
-
-
-
3Gain-
SPRYD7-
-
-
-
3Gain-
SQLE-
-
-
-
3Gain-
SRI-
-
-
-
3Gain-
SRLp.R398H
Missense
SNP
0.426
2--
SRPK2-
-
-
-
3Gain-
SRRM3-
-
-
-
3Gain-
SRRM4p.S527Y
Missense
SNP
0.600
2--
SRRT-
-
-
-
3Gain-
SS18p.R312G
Missense
SNP
0.205
2--
SSBP1-
-
-
-
3Gain-
SSC4D-
-
-
-
3Gain-
SSMEM1-
-
-
-
3Gain-
SSPOp.S4617A
Missense
SNP
0.303
3Gain-
SSU72P8-
-
-
-
3Gain-
ST18p.C121R
Missense
SNP
0.103
3Gain-
ST3GAL1-
-
-
-
3Gain-
ST7-
-
-
-
3Gain-
STAG3-
-
-
-
3Gain-
STARD13-
-
-
-
3Gain-
STARD3p.G280S
Missense
SNP
0.110
2--
STARD3NL-
-
-
-
3Gain-
STAT5Bp.A714T
Missense
SNP
0.708
2--
STAU2-
-
-
-
3Gain-
STEAP1-
-
-
-
3Gain-
STEAP1B-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP4-
-
-
-
3Gain-
STK17A-
-
-
-
3Gain-
STK24-
-
-
-
3Gain-
STK3-
-
-
-
3Gain-
STK31-
-
-
-
3Gain-
STMN2-
-
-
-
3Gain-
STMP1-
-
-
-
3Gain-
STOML3-
-
-
-
3Gain-
STOX2p.R371Q
Missense
SNP
0.460
2--
STPG1p.N252S
Missense
SNP
0.212
2--
STRA8-
-
-
-
3Gain-
STRIP2-
-
-
-
3Gain-
STX1A-
-
-
-
3Gain-
STYXL1-
-
-
-
3Gain-
SUCLA2-
-
-
-
3Gain-
SUGCT-
-
-
-
3Gain-
SUGT1-
-
-
-
3Gain-
SULF1-
-
-
-
3Gain-
SUMF2-
-
-
-
3Gain-
SUN1-
-
-
-
3Gain-
SUN3-
-
-
-
3Gain-
SUPT20H-
-
-
-
3Gain-
SVOPL-
-
-
-
3Gain-
SYBU-
-
-
-
3Gain-
SYPL1-
-
-
-
3Gain-
SYT16p.R298C
Missense
SNP
0.245
2--
SZT2p.S2439P
Missense
SNP
0.500
2--
TAC1-
-
-
-
3Gain-
TAF2-
-
-
-
3Gain-
TAF6-
-
-
-
3Gain-
TAS2R16-
-
-
-
3Gain-
TAS2R3-
-
-
-
3Gain-
TAS2R38-
-
-
-
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R5-
-
-
-
3Gain-
TAS2R60-
-
-
-
3Gain-
TATDN1-
-
-
-
3Gain-
TAX1BP1-
-
-
-
3Gain-
TBC1D17p.Q146H
Missense
SNP
0.237
2--
TBC1D31-
-
-
-
3Gain-
TBC1D4-
-
-
-
3Gain-
TBL2-
-
-
-
3Gain-
TBRG4-
-
-
-
3Gain-
TBX20-
-
-
-
3Gain-
TBX21p.R70H
Missense
SNP
0.519
2--
TBXAS1-
-
-
-
3Gain-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCEA1-
-
-
-
3Gain-
TCF24-
-
-
-
3Gain-
TDRD3-
-
-
-
3Gain-
TECPR1-
-
-
-
3Gain-
TENM1p.E2439V
Missense
SNP
0.381
NDND-
TERF1-
-
-
-
3Gain-
TERF2IPp.G60V
Missense
SNP
0.421
2--
TES-
-
-
-
3Gain-
TEX13Cp.G169S
Missense
SNP
0.469
NDND-
TEX26-
-
-
-
3Gain-
TEX29-
-
-
-
3Gain-
TEX30-
-
-
-
3Gain-
TEX47-
-
-
-
3Gain-
TFDP1-
-
-
-
3Gain-
TFEC-
-
-
-
3Gain-
TFPI2p.R5H
Missense
SNP
0.101
3Gain-
TFR2-
-
-
-
3Gain-
TG-
-
-
-
3Gain-
TGDS-
-
-
-
3Gain-
TGS1-
-
-
-
3Gain-
THAP5-
-
-
-
3Gain-
THAP9p.X194_splice
Splice_Site
SNP
0.189
2--
THEM6-
-
-
-
3Gain-
THSD1-
-
-
-
3Gain-
THSD7A-
-
-
-
3Gain-
THSD7Bp.P447T
Missense
SNP
0.460
2--
TIGD5-
-
-
-
3Gain-
TLR1p.A774T
Missense
SNP
0.122
2--
TLR9p.R986C
Missense
SNP
0.554
2--
TM9SF2-
-
-
-
3Gain-
TMC7p.S590P
Missense
SNP
0.360
2--
TMCO3-
-
-
-
3Gain-
TMED4-
-
-
-
3Gain-
TMEM106B-
-
-
-
3Gain-
TMEM120A-
-
-
-
3Gain-
TMEM130-
-
-
-
3Gain-
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM151Ap.G412S
Missense
SNP
0.509
2--
TMEM168-
-
-
-
3Gain-
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM178Ap.A50V
Missense
SNP
0.408
2--
TMEM178B-
-
-
-
3Gain-
TMEM184A-
-
-
-
3Gain-
TMEM196-
-
-
-
3Gain-
TMEM204p.R100H
Missense
SNP
0.477
2--
TMEM209-
-
-
-
3Gain-
TMEM213-
-
-
-
3Gain-
TMEM225B-
-
-
-
3Gain-
TMEM229A-
-
-
-
3Gain-
TMEM243-
-
-
-
3Gain-
TMEM248-
-
-
-
3Gain-
TMEM249-
-
-
-
3Gain-
TMEM255B-
-
-
-
3Gain-
TMEM270-
-
-
-
3Gain-
TMEM272-
-
-
-
3Gain-
TMEM47p.A89T
Missense
SNP
0.429
NDND-
TMEM60-
-
-
-
3Gain-
TMEM64-
-
-
-
3Gain-
TMEM65-
-
-
-
3Gain-
TMEM67-
-
-
-
3Gain-
TMEM68-
-
-
-
3Gain-
TMEM70-
-
-
-
3Gain-
TMEM71-
-
-
-
3Gain-
TMEM74-
-
-
-
3Gain-
TMEM94.
Splice_Site
SNP
0.528
2--
TMTC4-
-
-
-
3Gain-
TMUB1-
-
-
-
3Gain-
TNFRSF11B-
-
-
-
3Gain-
TNFRSF19-
-
-
-
3Gain-
TNFSF11-
-
-
-
3Gain-
TNFSF13B-
-
-
-
3Gain-
TNPO3-
-
-
-
3Gain-
TNRC18-
-
-
-
3Gain-
TNS1p.L672S
Missense
SNP
0.222
2--
TNS3-
-
-
-
3Gain-
TOMM7-
-
-
-
3Gain-
TONSL-
-
-
-
3Gain-
TOP1MT-
-
-
-
3Gain-
TOR2Ap.K72N
Missense
SNP
0.494
NDND-
TOX-
-
-
-
3Gain-
TP53INP1-
-
-
-
3Gain-
TPD52-
-
-
-
3Gain-
TPK1-
-
-
-
3Gain-
TPOp.L519R
Missense
SNP
0.135
2--
TPP2-
-
-
-
3Gain-
TPST1-
-
-
-
3Gain-
TPT1-
-
-
-
3Gain-
TPTE2-
-
-
-
3Gain-
TRA2A-
-
-
-
3Gain-
TRAM1-
-
-
-
3Gain-
TRANK1p.S987R
Missense
SNP
0.462
2--
TRAPPC8p.R901*
Nonsense
SNP
0.517
2--
TRAPPC9-
-
-
-
3Gain-
TRHR-
-
-
-
3Gain-
TRIB1-
-
-
-
3Gain-
TRIL-
-
-
-
3Gain-
TRIM13-
-
-
-
3Gain-
TRIM24-
-
-
-
3Gain-
TRIM4p.X281_splice
Splice_Site
DNP
0.303
3Gain-
TRIM50-
-
-
-
3Gain-
TRIM55-
-
-
-
3Gain-
TRIM56-
-
-
-
3Gain-
TRIM71p.G276S
Missense
SNP
0.546
2--
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIM8p.V512I
Missense
SNP
0.241
2--
TRIML2p.P429H
Missense
SNP
0.160
2--
TRIOp.E1159*
Nonsense
SNP
0.165
2--
TRIP4p.R254*
Nonsense
SNP
0.512
2--
TRIP6-
-
-
-
3Gain-
TRIQK-
-
-
-
3Gain-
TRMT12-
-
-
-
3Gain-
TRPA1-
-
-
-
3Gain-
TRPC4-
-
-
-
3Gain-
TRPS1p.Y856C
Missense
SNP
0.398
3Gain-
TRPV5-
-
-
-
3Gain-
TRPV6-
-
-
-
3Gain-
TRRAP-
-
-
-
3Gain-
TSC22D1-
-
-
-
3Gain-
TSC22D4-
-
-
-
3Gain-
TSGA13-
-
-
-
3Gain-
TSHZ2p.Y18C
Missense
SNP
0.476
2--
TSNARE1-
-
-
-
3Gain-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN33-
-
-
-
3Gain-
TSPYL5-
-
-
-
3Gain-
TSSK1Bp.A50T
Missense
SNP
0.455
2--
TSTA3-
-
-
-
3Gain-
TTC26-
-
-
-
3Gain-
TTI1p.E583G
Missense
SNP
0.460
2--
TTNp.H12082N
Missense
SNP
0.500
2--
TTPA-
-
-
-
3Gain-
TTYH3-
-
-
-
3Gain-
TUBA3C-
-
-
-
3Gain-
TUBGCP3-
-
-
-
3Gain-
TULP4p.P959S
Missense
SNP
0.484
2--
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TYW1-
-
-
-
3Gain-
TYW1B-
-
-
-
3Gain-
UBAC2-
-
-
-
3Gain-
UBE2D4-
-
-
-
3Gain-
UBE2H-
-
-
-
3Gain-
UBE2L5-
-
-
-
3Gain-
UBE2V2-
-
-
-
3Gain-
UBE2W-
-
-
-
3Gain-
UBE3C-
-
-
-
3Gain-
UBL3-
-
-
-
3Gain-
UBN2-
-
-
-
3Gain-
UBR5-
-
-
-
3Gain-
UBXN2B-
-
-
-
3Gain-
UCHL3-
-
-
-
3Gain-
UFM1-
-
-
-
3Gain-
UFSP1-
-
-
-
3Gain-
UGGT2-
-
-
-
3Gain-
UMAD1-
-
-
-
3Gain-
UNCX-
-
-
-
3Gain-
UPF3A-
-
-
-
3Gain-
UPK3B-
-
-
-
3Gain-
UPK3BL1-
-
-
-
3Gain-
UPP1-
-
-
-
3Gain-
UQCRB-
-
-
-
3Gain-
URAD-
-
-
-
3Gain-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
USP12-
-
-
-
3Gain-
USP36p.S715A
Missense
SNP
0.216
2--
USP42-
-
-
-
3Gain-
USP47p.R923*
Nonsense
SNP
0.466
2--
USP5p.R746W
Missense
SNP
0.396
2--
USP51p.L588I
Missense
SNP
0.226
NDND-
USP6p.T1391M
Missense
SNP
0.346
2--
USPL1-
-
-
-
3Gain-
UTP14C-
-
-
-
3Gain-
UTP23-
-
-
-
3Gain-
VCPIP1-
-
-
-
3Gain-
VGF-
-
-
-
3Gain-
VIMp.A302V
Missense
SNP
0.171
2--
VIPR2-
-
-
-
3Gain-
VIRMA-
-
-
-
3Gain-
VKORC1L1-
-
-
-
3Gain-
VOPP1-
-
-
-
3Gain-
VPS13B-
-
-
-
3Gain-
VPS28-
-
-
-
3Gain-
VPS36-
-
-
-
3Gain-
VPS37D-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS50-
-
-
-
3Gain-
VSTM2A-
-
-
-
3Gain-
VWA8-
-
-
-
3Gain-
VWC2-
-
-
-
3Gain-
VWDE-
-
-
-
3Gain-
VXN-
-
-
-
3Gain-
WASF3-
-
-
-
3Gain-
WASHC5-
-
-
-
3Gain-
WASL-
-
-
-
3Gain-
WBP4-
-
-
-
3Gain-
WDFY2-
-
-
-
3Gain-
WDR3p.L873R
Missense
SNP
0.127
2--
WDR36p.R635H
Missense
SNP
0.422
2--
WDR60-
-
-
-
3Gain-
WDR81p.M1757T
Missense
SNP
0.186
2--
WDR86-
-
-
-
3Gain-
WDR91-
-
-
-
3Gain-
WDR97p.X1008_splice
Splice_Site
SNP
0.505
3Gain-
WDYHV1-
-
-
-
3Gain-
WEE2-
-
-
-
3Gain-
WFIKKN2p.E532G
Missense
SNP
0.511
2--
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WISP1-
-
-
-
3Gain-
WIZp.E38D
Missense
SNP
0.348
2--
WLSp.M352T
Missense
SNP
0.544
2--
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WWP1-
-
-
-
3Gain-
WWP2p.R34H
Missense
SNP
0.372
2--
XKR4-
-
-
-
3Gain-
XKR9-
-
-
-
3Gain-
XPO4-
-
-
-
3Gain-
XRCC2-
-
-
-
3Gain-
XRN1p.R1108H
Missense
SNP
0.316
2--
YAE1-
-
-
-
3Gain-
YKT6-
-
-
-
3Gain-
YTHDC1p.L348P
Missense
SNP
0.149
2--
YTHDF3-
-
-
-
3Gain-
YWHAG-
-
-
-
3Gain-
YWHAZ-
-
-
-
3Gain-
ZAN-
-
-
-
3Gain-
ZAR1L-
-
-
-
3Gain-
ZBED6CL-
-
-
-
3Gain-
ZBTB10-
-
-
-
3Gain-
ZBTB46p.R457W
Missense
SNP
0.274
2--
ZC2HC1A-
-
-
-
3Gain-
ZC3H13-
-
-
-
3Gain-
ZC3H3-
-
-
-
3Gain-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCWPW1-
-
-
-
3Gain-
ZDHHC20-
-
-
-
3Gain-
ZDHHC4-
-
-
-
3Gain-
ZEB2p.R169C
Missense
SNP
0.305
2--
ZFAND1-
-
-
-
3Gain-
ZFAND2A-
-
-
-
3Gain-
ZFAT-
-
-
-
3Gain-
ZFHX4p.P469L
p.Y2707H
Missense
Missense
SNP
SNP
0.420
0.376
3Gain-
ZFP41-
-
-
-
3Gain-
ZFPM2-
-
-
-
3Gain-
ZFYVE26p.M2404T
Missense
SNP
0.483
2--
ZHX1-
-
-
-
3Gain-
ZHX1-C8orf76-
-
-
-
3Gain-
ZHX2-
-
-
-
3Gain-
ZIC2-
-
-
-
3Gain-
ZIC5-
-
-
-
3Gain-
ZIK1p.P350S
Missense
SNP
0.177
2--
ZKSCAN1-
-
-
-
3Gain-
ZKSCAN5-
-
-
-
3Gain-
ZKSCAN7-
-
-
-
1Loss-
ZMIZ2-
-
-
-
3Gain-
ZMYM2p.P806S
Missense
SNP
0.304
3Gain-
ZMYM5-
-
-
-
3Gain-
ZMYND8p.A406V
Missense
SNP
0.482
2--
ZNF107-
-
-
-
3Gain-
ZNF117-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF138-
-
-
-
3Gain-
ZNF142p.H596R
Missense
SNP
0.140
2--
ZNF16-
-
-
-
3Gain-
ZNF197-
-
-
-
1Loss-
ZNF212-
-
-
-
3Gain-
ZNF250-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF273-
-
-
-
3Gain-
ZNF277-
-
-
-
3Gain-
ZNF282-
-
-
-
3Gain-
ZNF3-
-
-
-
3Gain-
ZNF316-
-
-
-
3Gain-
ZNF34-
-
-
-
3Gain-
ZNF35-
-
-
-
1Loss-
ZNF394-
-
-
-
3Gain-
ZNF398-
-
-
-
3Gain-
ZNF408p.R72C
Missense
SNP
0.176
2--
ZNF425-
-
-
-
3Gain-
ZNF467-
-
-
-
3Gain-
ZNF479p.W252C
Missense
SNP
0.617
3Gain-
ZNF490p.R210Q
Missense
SNP
0.444
2--
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF516p.G817A
Missense
SNP
0.228
2--
ZNF517-
-
-
-
3Gain-
ZNF572-
-
-
-
3Gain-
ZNF606p.V23A
Missense
SNP
0.481
2--
ZNF623-
-
-
-
3Gain-
ZNF655-
-
-
-
3Gain-
ZNF660-
-
-
-
1Loss-
ZNF672p.T241M
Missense
SNP
0.197
2--
ZNF679-
-
-
-
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF696-
-
-
-
3Gain-
ZNF7-
-
-
-
3Gain-
ZNF704-
-
-
-
3Gain-
ZNF706-
-
-
-
3Gain-
ZNF707-
-
-
-
3Gain-
ZNF713-
-
-
-
3Gain-
ZNF716-
-
-
-
3Gain-
ZNF727-
-
-
-
3Gain-
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF746-
-
-
-
3Gain-
ZNF775-
-
-
-
3Gain-
ZNF777-
-
-
-
3Gain-
ZNF781p.T145M
Missense
SNP
0.548
2--
ZNF783-
-
-
-
3Gain-
ZNF786-
-
-
-
3Gain-
ZNF789-
-
-
-
3Gain-
ZNF800-
-
-
-
3Gain-
ZNF804B-
-
-
-
3Gain-
ZNF830p.R177G
Missense
SNP
0.538
2--
ZNF852-
-
-
-
1Loss-
ZNF853-
-
-
-
3Gain-
ZNF862-
-
-
-
3Gain-
ZNF879p.A37T
Missense
SNP
0.235
2--
ZNF92-
-
-
-
3Gain-
ZNHIT1-
-
-
-
3Gain-
ZNRF2-
-
-
-
3Gain-
ZP3-
-
-
-
3Gain-
ZPBP-
-
-
-
3Gain-
ZSCAN21-
-
-
-
3Gain-
ZSCAN25-
-
-
-
3Gain-
ZYX-
-
-
-
3Gain-