PDMR-983718~287-R~QJCLY2-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BGp.R333H
Missense
SNP
0.538
2--
AARD-
-
-
-
3Gain-
AASS-
-
-
-
3Gain-
ABCA13-
-
-
-
3Gain-
ABCB1-
-
-
-
3Gain-
ABCB4-
-
-
-
3Gain-
ABCB5-
-
-
-
3Gain-
ABCB8-
-
-
-
3Gain-
ABCC1p.I441S
Missense
SNP
0.431
2--
ABCF2-
-
-
-
3Gain-
ABCG8p.R145M
Missense
SNP
0.474
2--
ABHD11-
-
-
-
3Gain-
ABRA-
-
-
-
3Gain-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
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-
AC037459.1-
-
-
-
3Gain-
AC068533.4-
-
-
-
3Gain-
AC073111.3-
-
-
-
3Gain-
AC073111.5-
-
-
-
3Gain-
AC090360.1-
-
-
-
1Loss-
AC092647.5-
-
-
-
3Gain-
AC093668.1-
-
-
-
3Gain-
AC093668.2-
-
-
-
3Gain-
AC093668.3-
-
-
-
3Gain-
AC100868.1-
-
-
-
3Gain-
AC104389.2p.I45V
Missense
SNP
1.000
NDND-
AC105052.1-
-
-
-
3Gain-
AC105052.3-
-
-
-
3Gain-
AC107959.5-
-
-
-
3Gain-
AC110275.1-
-
-
-
3Gain-
AC115220.1-
-
-
-
3Gain-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC144573.1-
-
-
-
3Gain-
AC187653.1-
-
-
-
3Gain-
ACAP2p.K511N
Missense
SNP
0.500
2--
ACEp.A1194T
Missense
SNP
0.481
2--
ACHE-
-
-
-
3Gain-
ACO1p.G856D
Missense
SNP
0.548
2--
ACRBPp.T474I
Missense
SNP
0.488
2--
ACTB-
-
-
-
3Gain-
ACTL6B-
-
-
-
3Gain-
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACVR2Bp.A61T
Missense
SNP
0.487
2--
ADAD1p.Y325*
Nonsense
SNP
0.492
2--
ADAM18-
-
-
-
3Gain-
ADAM2-
-
-
-
3Gain-
ADAM22-
-
-
-
3Gain-
ADAM23p.N96I
Missense
SNP
0.493
2--
ADAM28-
-
-
-
3Gain-
ADAM32-
-
-
-
3Gain-
ADAM7-
-
-
-
3Gain-
ADAM9-
-
-
-
3Gain-
ADAMDEC1-
-
-
-
3Gain-
ADAMTS5p.R54*
Nonsense
SNP
0.667
2--
ADAP1-
-
-
-
3Gain-
ADCK5-
-
-
-
3Gain-
ADCY1-
-
-
-
3Gain-
ADCY5p.R562C
Missense
SNP
0.473
2--
ADCY8-
-
-
-
3Gain-
ADCYAP1R1-
-
-
-
3Gain-
ADGRA2p.L198M
Missense
SNP
0.645
3Gain-
ADGRA3p.T334M
Missense
SNP
0.394
2--
ADGRB1-
-
-
-
3Gain-
ADHFE1-
-
-
-
3Gain-
ADNP2-
-
-
-
1Loss-
ADORA1p.R208H
Missense
SNP
0.552
2--
ADRA1A-
-
-
-
3Gain-
ADRA2Bp.G76C
Missense
SNP
0.353
2--
ADRB3-
-
-
-
3Gain-
AEBP1-
-
-
-
3Gain-
AGAP1p.E209D
Missense
SNP
0.542
2--
AGAP3-
-
-
-
3Gain-
AGFG2-
-
-
-
3Gain-
AGMO-
-
-
-
3Gain-
AGO2-
-
-
-
3Gain-
AGPAT5-
-
-
-
3Gain-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGRPp.R86H
Missense
SNP
0.500
2--
AGTRAPp.A5V
Missense
SNP
0.407
2--
AHCYL2-
-
-
-
3Gain-
AHNAKp.G3911C
Missense
SNP
0.525
2--
AHR-
-
-
-
3Gain-
AIMP2-
-
-
-
3Gain-
AKAP9-
-
-
-
3Gain-
ALDH1B1p.G165D
Missense
SNP
0.531
2--
ALKp.A18V
Missense
SNP
0.477
2--
ALKAL1-
-
-
-
3Gain-
ALKBH4-
-
-
-
3Gain-
AMBRA1p.T237M
Missense
SNP
0.557
2--
AMER1p.T600S
Missense
SNP
1.000
NDND-
AMIGO3p.A205T
Missense
SNP
0.530
2--
AMPH-
-
-
-
3Gain-
AMZ1-
-
-
-
3Gain-
ANGPT1-
-
-
-
3Gain-
ANGPT2-
-
-
-
3Gain-
ANK1-
-
-
-
3Gain-
ANKHD1-EIF4EBP3p.P1883H
Missense
SNP
0.516
2--
ANKIB1-
-
-
-
3Gain-
ANKMY2-
-
-
-
3Gain-
ANKRD17p.A458T
Missense
SNP
0.482
2--
ANKRD28p.L953F
Missense
SNP
0.605
2--
ANKRD30Bp.Y453H
Missense
SNP
0.507
2--
ANKRD42p.V514M
Missense
SNP
0.515
2--
ANKRD46-
-
-
-
3Gain-
ANKRD61-
-
-
-
3Gain-
ANKRD7-
-
-
-
3Gain-
ANKRD9p.R205C
Missense
SNP
0.800
2--
ANKS1Ap.V165A
Missense
SNP
0.493
2--
ANLN-
-
-
-
3Gain-
ANO1p.V840G
Missense
SNP
0.486
2--
ANXA13-
-
-
-
3Gain-
AOAH-
-
-
-
3Gain-
AOC1-
-
-
-
3Gain-
AP1S1-
-
-
-
3Gain-
AP3B2p.D493Y
Missense
SNP
0.422
2--
AP3M1p.R141C
Missense
SNP
0.519
2--
AP3M2-
-
-
-
3Gain-
AP4M1p.R310W
Missense
SNP
0.186
3Gain-
AP5Z1-
-
-
-
3Gain-
APLP2p.P604H
Missense
SNP
0.524
2--
AQP1p.G138D
Missense
SNP
0.646
3Gain-
ARC-
-
-
-
3Gain-
ARF5-
-
-
-
3Gain-
ARFGEF1p.A575V
Missense
SNP
0.621
3Gain-
ARHGAP26p.V710S
Missense
DNP
0.467
2--
ARHGAP39-
-
-
-
3Gain-
ARHGEF10-
-
-
-
3Gain-
ARHGEF18p.A1015T
Missense
SNP
0.508
2--
ARHGEF5-
-
-
-
3Gain-
ARID1Ap.A1682V
Missense
SNP
0.403
2--
ARL4A-
-
-
-
3Gain-
ARMC1-
-
-
-
3Gain-
ARMC10-
-
-
-
3Gain-
ARMC4p.G19*
Nonsense
SNP
0.526
2--
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ARSHp.Q527*
Nonsense
SNP
1.000
NDND-
ARSIp.T386M
Missense
SNP
0.459
2--
ARSJp.T171M
Missense
SNP
0.519
2--
ASAH1-
-
-
-
3Gain-
ASAH2p.T482A
Missense
SNP
0.456
2--
ASAP1-
-
-
-
3Gain-
ASB10-
-
-
-
3Gain-
ASB15-
-
-
-
3Gain-
ASB4-
-
-
-
3Gain-
ASH2L-
-
-
-
3Gain-
ASIC3-
-
-
-
3Gain-
ASL-
-
-
-
3Gain-
ASNS-
-
-
-
3Gain-
ASPGp.C132R
Missense
SNP
0.527
2--
ASPH-
-
-
-
3Gain-
ASPMp.A3295T
Missense
SNP
0.542
2--
ASS1p.V269M
Missense
SNP
0.500
2--
ASXL1p.A809V
p.R1289W
Missense
Missense
SNP
SNP
0.477
0.471
2--
ASZ1-
-
-
-
3Gain-
ATAD2-
-
-
-
3Gain-
ATF6p.L348P
Missense
SNP
0.583
2--
ATF7IPp.R564C
Missense
SNP
0.386
2--
ATG4Dp.V81M
Missense
SNP
0.552
2--
ATG5p.R15*
Nonsense
SNP
0.475
2--
ATG9B-
-
-
-
3Gain-
ATP10Ap.F572L
Missense
SNP
0.502
2--
ATP11Cp.L1132M
Missense
SNP
0.989
NDND-
ATP13A5p.X639_splice
Splice_Site
SNP
0.393
2--
ATP2B2p.G269*
p.E30K
Nonsense
Missense
SNP
SNP
0.517
0.414
2--
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP6V0D2-
-
-
-
3Gain-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1B2-
-
-
-
3Gain-
ATP6V1C1-
-
-
-
3Gain-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1H-
-
-
-
3Gain-
ATP9B-
-
-
-
1Loss-
ATXN1Lp.P567H
Missense
SNP
0.539
2--
ATXN7L1-
-
-
-
3Gain-
AUTS2-
-
-
-
3Gain-
AVL9p.G14V
Missense
SNP
0.477
3Gain-
AZGP1-
-
-
-
3Gain-
AZIN1-
-
-
-
3Gain-
B3GNT6p.R167C
Missense
SNP
0.487
2--
B9D1p.D98V
Missense
SNP
0.603
2--
BAALC-
-
-
-
3Gain-
BAG4-
-
-
-
3Gain-
BAIAP2L1-
-
-
-
3Gain-
BAZ1Ap.A480T
Missense
SNP
0.423
2--
BAZ1B-
-
-
-
3Gain-
BBS9-
-
-
-
3Gain-
BCAP29-
-
-
-
3Gain-
BCL7B-
-
-
-
3Gain-
BDH1p.P30Q
Missense
SNP
0.469
2--
BEST3p.V244I
Missense
SNP
0.508
2--
BET1-
-
-
-
3Gain-
BHLHA15-
-
-
-
3Gain-
BHLHE22-
-
-
-
3Gain-
BIN3-
-
-
-
3Gain-
BLK-
-
-
-
3Gain-
BLVRA-
-
-
-
3Gain-
BMP1-
-
-
-
3Gain-
BMPER-
-
-
-
3Gain-
BMT2-
-
-
-
3Gain-
BNIP3L-
-
-
-
3Gain-
BNIPLp.I320M
Missense
SNP
0.484
2--
BOD1L1p.R2773*
p.T2486A
Nonsense
Missense
SNP
SNP
0.475
0.452
2--
BOP1-
-
-
-
3Gain-
BRAFp.V600E
Missense
SNP
0.697
2--
BRAT1-
-
-
-
3Gain-
BRF2-
-
-
-
3Gain-
BRI3-
-
-
-
3Gain-
BRINP2p.L353V
Missense
SNP
0.443
2--
BRWD3p.G1685*
Nonsense
SNP
0.988
NDND-
BTN2A2p.Q311*
Nonsense
SNP
0.516
2--
BTNL9p.G154D
Missense
SNP
0.533
2--
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
3Gain-
BZW2-
-
-
-
3Gain-
C16orf78p.M202K
Missense
SNP
0.456
2--
C1GALT1-
-
-
-
3Gain-
C1orf127p.P463S
Missense
SNP
0.394
2--
C1orf174p.P175S
Missense
SNP
0.460
2--
C1orf210p.R77C
Missense
SNP
0.537
2--
C1orf68-
-
-
-
3Gain-
C2CD5p.R181Q
Missense
SNP
0.432
2--
C3orf80p.A30V
Missense
SNP
0.658
2--
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C4BPAp.A464V
Missense
SNP
0.375
2--
C4orf22p.E102*
Nonsense
SNP
0.479
NDND-
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf33-
-
-
-
3Gain-
C7orf43-
-
-
-
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C7orf61-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8orf33-
-
-
-
3Gain-
C8orf34-
-
-
-
3Gain-
C8orf37-
-
-
-
3Gain-
C8orf44-
-
-
-
3Gain-
C8orf48-
-
-
-
3Gain-
C8orf58-
-
-
-
3Gain-
C8orf59-
-
-
-
3Gain-
C8orf74-
-
-
-
3Gain-
C8orf76-
-
-
-
3Gain-
C8orf82-
-
-
-
3Gain-
C8orf86-
-
-
-
3Gain-
C8orf88-
-
-
-
3Gain-
C8orf89-
-
-
-
3Gain-
C9orf135p.R36H
Missense
SNP
0.552
2--
C9orf64p.E275*
Nonsense
SNP
0.441
2--
CA1-
-
-
-
3Gain-
CA13-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA8-
-
-
-
3Gain-
CABP2p.M107V
Missense
SNP
0.495
2--
CACNA1Ap.A2447T
Missense
SNP
0.415
2--
CACNA1Cp.R890H
Missense
SNP
0.462
2--
CACNA2D1-
-
-
-
3Gain-
CACNA2D3p.T535M
Missense
SNP
0.492
2--
CADPS2-
-
-
-
3Gain-
CALB1-
-
-
-
3Gain-
CALCR-
-
-
-
3Gain-
CALN1-
-
-
-
3Gain-
CALU-
-
-
-
3Gain-
CAMK2Bp.S367G
Missense
SNP
0.700
3Gain-
CAPZA2-
-
-
-
3Gain-
CARD10-
-
-
-
3Gain-
CARD11-
-
-
-
3Gain-
CARD17p.A2V
Missense
SNP
0.500
2--
CASC5p.H284Q
Missense
SNP
0.486
NDND-
CASD1-
-
-
-
3Gain-
CASP2-
-
-
-
3Gain-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CATSPERGp.A662P
Missense
SNP
0.391
2--
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CAV3p.C140Y
Missense
SNP
0.565
2--
CBLL1-
-
-
-
3Gain-
CBX3-
-
-
-
3Gain-
CCAR2-
-
-
-
3Gain-
CCDC113p.A230T
Missense
SNP
0.545
2--
CCDC126-
-
-
-
3Gain-
CCDC136-
-
-
-
3Gain-
CCDC146-
-
-
-
3Gain-
CCDC166-
-
-
-
3Gain-
CCDC25-
-
-
-
3Gain-
CCDC60p.D373G
Missense
SNP
0.349
2--
CCDC71L-
-
-
-
3Gain-
CCDC80p.V252F
Missense
SNP
0.472
2--
CCKBRp.P114S
Missense
SNP
0.545
2--
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCM2-
-
-
-
3Gain-
CCNE2-
-
-
-
3Gain-
CCT6A-
-
-
-
3Gain-
CCT6Bp.X46_splice
Splice_Site
SNP
0.515
2--
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD101p.R879G
Missense
SNP
0.516
2--
CD14p.H340Y
Missense
SNP
0.556
2--
CD177-
-
-
-
1Loss-
CD1Dp.W10R
Missense
SNP
0.643
2--
CD274p.V147A
Missense
SNP
0.549
2--
CD36-
-
-
-
3Gain-
CDC14C-
-
-
-
3Gain-
CDC42EP1-
-
-
-
3Gain-
CDCA2-
-
-
-
3Gain-
CDCA7p.H430Y
Missense
SNP
0.525
2--
CDCA7L-
-
-
-
3Gain-
CDH10p.R128C
Missense
SNP
0.474
3Gain-
CDH12-
-
-
-
3Gain-
CDH16p.Y131C
Missense
SNP
0.497
2--
CDH17-
-
-
-
3Gain-
CDH18-
-
-
-
3Gain-
CDH22p.R142H
Missense
SNP
0.514
2--
CDH9p.P356Q
Missense
SNP
0.192
3Gain-
CDHR3-
-
-
-
3Gain-
CDHR5p.H261Y
Missense
SNP
0.464
2--
CDK13-
-
-
-
3Gain-
CDK14-
-
-
-
3Gain-
CDK5-
-
-
-
3Gain-
CDK6-
-
-
-
3Gain-
CDX2p.T185M
Missense
SNP
0.480
2--
CEACAM21p.I201M
Missense
SNP
0.450
2--
CEBPD-
-
-
-
3Gain-
CEP295p.P2072S
Missense
SNP
0.673
2--
CEP41-
-
-
-
3Gain-
CES5Ap.T213I
Missense
SNP
0.556
2--
CFAP46p.A2186T
Missense
SNP
0.510
2--
CFAP69-
-
-
-
3Gain-
CFTR-
-
-
-
3Gain-
CGNL1p.A1007V
Missense
SNP
0.400
2--
CHCHD2-
-
-
-
3Gain-
CHCHD7-
-
-
-
3Gain-
CHD5p.E767K
p.V228I
Missense
Missense
SNP
SNP
0.406
0.469
2--
CHD7-
-
-
-
3Gain-
CHL1p.V12A
Missense
SNP
0.446
2--
CHMP4Cp.S13Y
Missense
SNP
0.357
3Gain-
CHMP7-
-
-
-
3Gain-
CHN2-
-
-
-
3Gain-
CHPF2-
-
-
-
3Gain-
CHRAC1-
-
-
-
3Gain-
CHRNA2-
-
-
-
3Gain-
CHRNA6-
-
-
-
3Gain-
CHRNB3-
-
-
-
3Gain-
CHST12-
-
-
-
3Gain-
CIITAp.T233I
Missense
SNP
0.483
2--
CKAP5p.K1607N
Missense
SNP
0.371
2--
CLASP1p.A805V
p.R662C
Missense
Missense
SNP
SNP
0.529
0.526
2--
CLCN1-
-
-
-
3Gain-
CLDN12-
-
-
-
3Gain-
CLDN15-
-
-
-
3Gain-
CLDN22p.C104Y
Missense
SNP
0.231
2--
CLDN23-
-
-
-
3Gain-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLDN7p.Y35H
Missense
SNP
0.460
2--
CLEC3Bp.R101H
Missense
SNP
0.473
2--
CLEC5A-
-
-
-
3Gain-
CLIP2-
-
-
-
3Gain-
CLN8-
-
-
-
3Gain-
CLU-
-
-
-
3Gain-
CLVS1-
-
-
-
3Gain-
CNBD1-
-
-
-
3Gain-
CNGB1p.H261Y
Missense
SNP
0.520
2--
CNGB3-
-
-
-
3Gain-
CNKSR3p.N188K
Missense
SNP
0.461
2--
CNOT7-
-
-
-
3Gain-
CNPY1-
-
-
-
3Gain-
CNPY4p.A121T
Missense
SNP
0.573
3Gain-
CNR1p.R148H
Missense
SNP
0.459
2--
CNTLNp.C228Y
Missense
SNP
0.494
2--
CNTN3p.S164L
Missense
SNP
0.575
2--
CNTNAP2-
-
-
-
3Gain-
CNTNAP4p.T799A
Missense
SNP
0.475
2--
CNTRLp.A1883T
Missense
SNP
0.477
2--
COA1-
-
-
-
3Gain-
COBL-
-
-
-
3Gain-
COG1p.Q600R
Missense
SNP
0.494
2--
COG3p.E778D
Missense
SNP
0.416
2--
COG5-
-
-
-
3Gain-
COL11A1p.F1710V
Missense
SNP
0.431
2--
COL14A1-
-
-
-
3Gain-
COL18A1p.P1714L
Missense
SNP
0.569
2--
COL1A2p.P686T
Missense
SNP
0.414
3Gain-
COL22A1-
-
-
-
3Gain-
COL26A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COL4A2p.G657*
p.R802S
Nonsense
Missense
SNP
SNP
0.477
0.525
2--
COL5A3p.E112*
Nonsense
SNP
0.516
2--
COLEC10-
-
-
-
3Gain-
COMMD5-
-
-
-
3Gain-
COMPp.R738H
p.R337H
Missense
Missense
SNP
SNP
0.500
0.596
2--
COPB2p.N151D
Missense
SNP
0.465
2--
COPG2-
-
-
-
3Gain-
COPS5-
-
-
-
3Gain-
COPS6-
-
-
-
3Gain-
CORINp.C405Y
Missense
SNP
0.556
2--
COX19-
-
-
-
3Gain-
COX6C-
-
-
-
3Gain-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPA6-
-
-
-
3Gain-
CPED1-
-
-
-
3Gain-
CPNE2p.G473C
Missense
SNP
0.484
2--
CPNE3-
-
-
-
3Gain-
CPQ-
-
-
-
3Gain-
CPS1p.G302R
Missense
SNP
0.436
2--
CPSF1-
-
-
-
3Gain-
CPSF4-
-
-
-
3Gain-
CPVL-
-
-
-
3Gain-
CPXM2p.D220G
Missense
SNP
0.548
2--
CRCP-
-
-
-
3Gain-
CRCT1-
-
-
-
3Gain-
CREB5-
-
-
-
3Gain-
CRH-
-
-
-
3Gain-
CRHR2-
-
-
-
3Gain-
CRIPAKp.R154W
Missense
SNP
0.556
NDND-
CRISPLD1-
-
-
-
3Gain-
CRLF1p.T205M
Missense
SNP
0.526
2--
CRNN-
-
-
-
3Gain-
CROCC2p.V1056I
Missense
SNP
0.475
2--
CROT-
-
-
-
3Gain-
CRYBB3p.A2V
Missense
SNP
0.456
2--
CRYBG3p.T964A
Missense
SNP
0.505
2--
CRYGN-
-
-
-
3Gain-
CSDE1p.T659A
Missense
SNP
0.473
2--
CSGALNACT1-
-
-
-
3Gain-
CSMD1p.Q2584H
p.H1304R
p.L397H
Missense
Missense
Missense
SNP
SNP
SNP
0.673
0.369
0.650
3Gain-
CSMD3-
-
-
-
3Gain-
CSPP1p.M1047V
Missense
SNP
0.367
3Gain-
CTAGE4-
-
-
-
3Gain-
CTAGE8-
-
-
-
3Gain-
CTDNEP1p.Q5*
Nonsense
SNP
0.472
2--
CTDP1-
-
-
-
1Loss-
CTHRC1-
-
-
-
3Gain-
CTNNA2p.R97C
Missense
SNP
0.462
2--
CTSB-
-
-
-
3Gain-
CTTNp.G495W
Missense
SNP
0.578
2--
CTTNBP2-
-
-
-
3Gain-
CUL1-
-
-
-
3Gain-
CUL7p.G251V
Missense
SNP
0.619
2--
CUX1-
-
-
-
3Gain-
CX3CR1p.G341E
Missense
SNP
0.503
2--
CXCR4p.L242I
Missense
SNP
0.513
2--
CYC1-
-
-
-
3Gain-
CYCS-
-
-
-
3Gain-
CYHR1-
-
-
-
3Gain-
CYP11B1-
-
-
-
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP21A2-
-
-
-
1Loss-
CYP2W1-
-
-
-
3Gain-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5-
-
-
-
3Gain-
CYP3A7-
-
-
-
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP51A1-
-
-
-
3Gain-
CYP7A1-
-
-
-
3Gain-
CYP7B1-
-
-
-
3Gain-
CYTH3-
-
-
-
3Gain-
DAGLB-
-
-
-
3Gain-
DAZLp.D9N
Missense
SNP
0.564
2--
DBF4-
-
-
-
3Gain-
DBNL-
-
-
-
3Gain-
DBX2p.A63T
Missense
SNP
0.438
2--
DCAF11p.X95_splice
Splice_Site
SNP
0.494
2--
DCAF13-
-
-
-
3Gain-
DCAF4L2-
-
-
-
3Gain-
DCLK3p.W95C
Missense
SNP
0.470
2--
DCSTAMP-
-
-
-
3Gain-
DCTN6-
-
-
-
3Gain-
DDC-
-
-
-
3Gain-
DDHD2-
-
-
-
3Gain-
DDX47p.V403I
Missense
SNP
0.467
2--
DDX54p.K593R
Missense
SNP
0.554
2--
DDX56-
-
-
-
3Gain-
DECR1-
-
-
-
3Gain-
DEFA4p.I84V
Missense
SNP
0.740
3Gain-
DEFA5-
-
-
-
3Gain-
DEFA6-
-
-
-
3Gain-
DEFB1-
-
-
-
3Gain-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB134-
-
-
-
3Gain-
DEFB135-
-
-
-
3Gain-
DEFB136-
-
-
-
3Gain-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DENND3-
-
-
-
3Gain-
DENND4Bp.R878Q
Missense
SNP
0.500
2--
DEPTOR-
-
-
-
3Gain-
DERL1-
-
-
-
3Gain-
DGAT1-
-
-
-
3Gain-
DGKB-
-
-
-
3Gain-
DHX16p.Y885H
Missense
SNP
0.347
2--
DISP3p.V831M
p.R1002W
Missense
Missense
SNP
SNP
0.505
0.478
2--
DKK4-
-
-
-
3Gain-
DLC1-
-
-
-
3Gain-
DLD-
-
-
-
3Gain-
DLEU7p.R52H
Missense
SNP
0.489
2--
DLGAP2-
-
-
-
3Gain-
DLX5-
-
-
-
3Gain-
DLX6-
-
-
-
3Gain-
DMTF1-
-
-
-
3Gain-
DMTN-
-
-
-
3Gain-
DMXL1p.T594M
p.E2449K
Missense
Missense
SNP
SNP
0.484
0.516
2--
DNAAF5-
-
-
-
3Gain-
DNAH11p.A1809V
Missense
SNP
0.265
3Gain-
DNAH14p.V110M
p.G1553*
Missense
Nonsense
SNP
SNP
0.600
0.580
2--
DNAH2p.X1687_splice
Splice_Site
SNP
0.395
2--
DNAJB9-
-
-
-
3Gain-
DNAJC18p.N282T
Missense
SNP
0.443
2--
DNAJC2-
-
-
-
3Gain-
DNAJC30-
-
-
-
3Gain-
DNAJC5B-
-
-
-
3Gain-
DNM1p.S443I
Missense
SNP
0.394
2--
DNMT3Bp.R683H
Missense
SNP
0.582
2--
DNTTIP2p.L289P
Missense
SNP
0.378
2--
DOCK4-
-
-
-
3Gain-
DOCK5-
-
-
-
3Gain-
DOCK6p.P1827L
p.D967N
Missense
Missense
SNP
SNP
0.464
0.500
2--
DOCK9p.L1724H
Missense
SNP
0.517
2--
DOK2-
-
-
-
3Gain-
DPP6-
-
-
-
3Gain-
DPP7p.X208_splice
Splice_Site
SNP
0.574
2--
DPPA2.
Splice_Site
SNP
0.396
2--
DPY19L1-
-
-
-
3Gain-
DPY19L4-
-
-
-
3Gain-
DPYS-
-
-
-
3Gain-
DPYSL2-
-
-
-
3Gain-
DSCC1-
-
-
-
3Gain-
DSELp.Q763R
Missense
SNP
0.542
2--
DSTp.N2522I
p.N1215K
p.X782_splice
Missense
Missense
Splice_Site
SNP
SNP
SNP
0.425
0.511
0.404
2--
DTNAp.N69D
Missense
SNP
0.495
2--
DTX2-
-
-
-
3Gain-
DUOX1p.L197V
Missense
SNP
0.444
2--
DUOXA2p.V22I
Missense
SNP
0.461
2--
DUS4L-
-
-
-
3Gain-
DUSP26-
-
-
-
3Gain-
DUSP27p.T1004I
Missense
SNP
0.537
2--
DUSP4-
-
-
-
3Gain-
DUSP6p.E125D
Missense
SNP
0.509
2--
DUSP8p.R570Q
Missense
SNP
0.520
2--
DYNC1H1p.R2358H
p.M2953T
Missense
Missense
SNP
SNP
0.487
0.403
2--
DYNC1I1-
-
-
-
3Gain-
DYSFp.A736T
Missense
SNP
0.688
2--
E2F5-
-
-
-
3Gain-
E4F1p.A651V
Missense
SNP
0.459
2--
EBAG9-
-
-
-
3Gain-
EBF2-
-
-
-
3Gain-
EEF1A1p.G33D
Missense
SNP
0.350
2--
EEF1D-
-
-
-
3Gain-
EEPD1-
-
-
-
3Gain-
EFCAB1-
-
-
-
3Gain-
EFCAB10-
-
-
-
3Gain-
EFR3A-
-
-
-
3Gain-
EGFR-
-
-
-
3Gain-
EGR3-
-
-
-
3Gain-
EHMT2p.D1179N
Missense
SNP
0.553
2--
EIF2AK1-
-
-
-
3Gain-
EIF2AK2p.V423A
Missense
SNP
0.486
2--
EIF3B-
-
-
-
3Gain-
EIF3Dp.Y69C
Missense
SNP
0.410
2--
EIF3E-
-
-
-
3Gain-
EIF3H-
-
-
-
3Gain-
EIF4EBP1-
-
-
-
3Gain-
EIF4G3p.T141A
Missense
SNP
0.488
2--
EIF4H-
-
-
-
3Gain-
EIF5A2p.R109Q
Missense
DNP
0.676
2--
ELAC2p.I284V
Missense
SNP
0.390
2--
ELFN1-
-
-
-
3Gain-
ELK4p.P401A
Missense
SNP
0.427
2--
ELMO1-
-
-
-
3Gain-
ELN-
-
-
-
3Gain-
ELOC-
-
-
-
3Gain-
ELP3-
-
-
-
3Gain-
EMC2-
-
-
-
3Gain-
EN2-
-
-
-
3Gain-
ENPP2-
-
-
-
3Gain-
ENTPD4-
-
-
-
3Gain-
ENY2-
-
-
-
3Gain-
EPAS1p.H775R
Missense
SNP
0.504
2--
EPDR1-
-
-
-
3Gain-
EPHA1-
-
-
-
3Gain-
EPHA6p.F303S
p.P1031H
Missense
Missense
SNP
SNP
0.474
0.647
2--
EPHB4-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPHX2-
-
-
-
3Gain-
EPO-
-
-
-
3Gain-
EPPK1-
-
-
-
3Gain-
EPS8L1p.C124G
Missense
SNP
0.500
2--
ERC2p.H927R
Missense
SNP
0.331
2--
ERGp.A192T
Missense
SNP
0.411
2--
ERI1-
-
-
-
3Gain-
ERICH1-
-
-
-
3Gain-
ERICH5-
-
-
-
3Gain-
ERLIN2-
-
-
-
3Gain-
ERV3-1-
-
-
-
3Gain-
ESCO2-
-
-
-
3Gain-
ESRP1-
-
-
-
3Gain-
ETV1-
-
-
-
3Gain-
EVX1-
-
-
-
3Gain-
EXD3p.P596T
Missense
SNP
0.433
2--
EXOC3L1p.I468V
p.F41L
Missense
Missense
SNP
SNP
0.403
0.520
2--
EXOC3L4p.E281K
Missense
SNP
0.488
2--
EXOC4p.R302H
Missense
SNP
0.605
2--
EXOSC4-
-
-
-
3Gain-
EXT1-
-
-
-
3Gain-
EXTL3-
-
-
-
3Gain-
EYA1-
-
-
-
3Gain-
EYSp.S1490T
Missense
SNP
0.410
2--
EZH2-
-
-
-
3Gain-
FABP12-
-
-
-
3Gain-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP9-
-
-
-
3Gain-
FAF2p.Q382H
Missense
SNP
0.449
2--
FAM110B-
-
-
-
3Gain-
FAM124Ap.R278*
Nonsense
SNP
0.448
2--
FAM126A-
-
-
-
3Gain-
FAM131B-
-
-
-
3Gain-
FAM133B-
-
-
-
3Gain-
FAM135B-
-
-
-
3Gain-
FAM160B2-
-
-
-
3Gain-
FAM167A-
-
-
-
3Gain-
FAM185A-
-
-
-
3Gain-
FAM186Ap.E55D
Missense
SNP
0.450
2--
FAM196Bp.G242C
Missense
SNP
0.544
NDND-
FAM198Ap.R37H
p.A423V
p.C440Y
Missense
Missense
Missense
SNP
SNP
SNP
0.533
0.595
0.529
2--
FAM200A-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM210Bp.Y96C
Missense
SNP
0.545
2--
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM3C-
-
-
-
3Gain-
FAM43Ap.R410H
Missense
SNP
0.393
2--
FAM49B-
-
-
-
3Gain-
FAM53Cp.D126G
Missense
SNP
0.464
2--
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM83A-
-
-
-
3Gain-
FAM83H-
-
-
-
3Gain-
FAM84B-
-
-
-
3Gain-
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
3Gain-
FASTK-
-
-
-
3Gain-
FAT2p.A2663S
Missense
SNP
0.513
2--
FAT4p.D2007Y
p.S3990N
Missense
Missense
SNP
SNP
0.493
0.430
2--
FBF1p.V983A
Missense
SNP
0.480
2--
FBN1p.P1981L
Missense
SNP
0.473
2--
FBXL13-
-
-
-
3Gain-
FBXL18-
-
-
-
3Gain-
FBXL6p.A462T
Missense
SNP
0.643
3Gain-
FBXO10p.G122C
Missense
SNP
0.585
2--
FBXO16-
-
-
-
3Gain-
FBXO24-
-
-
-
3Gain-
FBXO25-
-
-
-
3Gain-
FBXO32-
-
-
-
3Gain-
FBXO43-
-
-
-
3Gain-
FBXW10p.H296Y
Missense
SNP
0.468
2--
FCER1Ap.R240M
Missense
SNP
0.470
2--
FCGBPp.S3170F
Missense
SNP
0.524
2--
FCN3p.L10M
Missense
SNP
0.483
2--
FCRL4p.Q108*
Nonsense
SNP
0.573
2--
FDFT1-
-
-
-
3Gain-
FER1L6-
-
-
-
3Gain-
FERD3L-
-
-
-
3Gain-
FESp.A220T
Missense
SNP
0.544
2--
FEZF1-
-
-
-
3Gain-
FGF17-
-
-
-
3Gain-
FGF20-
-
-
-
3Gain-
FGF6p.G95C
Missense
SNP
0.464
2--
FGFR1p.A23S
Missense
SNP
0.427
3Gain-
FGL1-
-
-
-
3Gain-
FGL2-
-
-
-
3Gain-
FIGNL1-
-
-
-
3Gain-
FIS1-
-
-
-
3Gain-
FKBP14-
-
-
-
3Gain-
FKBP6-
-
-
-
3Gain-
FKBP9-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLNC-
-
-
-
3Gain-
FLRT2-
-
-
-
3Gain-
FLT3LGp.P57T
Missense
SNP
0.481
2--
FNTA-
-
-
-
3Gain-
FOLR2p.K120R
Missense
SNP
0.498
2--
FOXE3p.T93M
Missense
SNP
0.466
2--
FOXG1p.R281P
Missense
SNP
0.435
2--
FOXH1-
-
-
-
3Gain-
FOXK1-
-
-
-
3Gain-
FOXL1p.A65T
Missense
SNP
0.505
2--
FOXP2-
-
-
-
3Gain-
FSBP-
-
-
-
3Gain-
FSCN1-
-
-
-
3Gain-
FSCN3-
-
-
-
3Gain-
FSIP2p.A96T
p.V4132A
Missense
Missense
SNP
SNP
0.621
0.385
2--
FTSJ3p.E338D
Missense
SNP
0.475
2--
FUT10-
-
-
-
3Gain-
FUT4p.A82V
Missense
SNP
0.564
2--
FUZp.G377*
Nonsense
SNP
0.528
2--
FZD1p.C215Y
Missense
SNP
0.611
3Gain-
FZD3p.V228I
Missense
SNP
0.284
3Gain-
FZD6-
-
-
-
3Gain-
FZD9-
-
-
-
3Gain-
GABRA4p.P180L
Missense
SNP
0.490
2--
GABRA5p.G233C
Missense
SNP
0.500
2--
GAL3ST4-
-
-
-
3Gain-
GALNT11-
-
-
-
3Gain-
GALNT17-
-
-
-
3Gain-
GALNTL5-
-
-
-
3Gain-
GAREM2p.P282L
Missense
SNP
0.559
2--
GARS-
-
-
-
3Gain-
GAS2p.S133L
Missense
SNP
0.534
2--
GATA3p.A146T
Missense
SNP
0.508
2--
GATA4-
-
-
-
3Gain-
GATAD1-
-
-
-
3Gain-
GBAp.P12A
Missense
SNP
0.480
2--
GBX1-
-
-
-
3Gain-
GCC1-
-
-
-
3Gain-
GCK-
-
-
-
3Gain-
GDAP1-
-
-
-
3Gain-
GDF6-
-
-
-
3Gain-
GEM-
-
-
-
3Gain-
GET4-
-
-
-
3Gain-
GFRA2-
-
-
-
3Gain-
GGA1-
-
-
-
3Gain-
GGCT-
-
-
-
3Gain-
GGH-
-
-
-
3Gain-
GGNp.R404W
Missense
SNP
0.517
2--
GHRHR-
-
-
-
3Gain-
GIGYF1-
-
-
-
3Gain-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4p.G113W
Missense
SNP
0.377
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6-
-
-
-
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GINS4-
-
-
-
3Gain-
GJC3p.R184H
Missense
SNP
0.497
3Gain-
GLCCI1-
-
-
-
3Gain-
GLI3-
-
-
-
3Gain-
GLI4-
-
-
-
3Gain-
GML-
-
-
-
3Gain-
GNA12-
-
-
-
3Gain-
GNAI1-
-
-
-
3Gain-
GNALp.E150K
Missense
SNP
0.392
2--
GNASp.G152*
p.A263V
Nonsense
Missense
SNP
SNP
0.635
0.461
2--
GNAT3-
-
-
-
3Gain-
GNB1Lp.C300Y
Missense
SNP
0.500
2--
GNB2-
-
-
-
3Gain-
GNG11-
-
-
-
3Gain-
GNGT1-
-
-
-
3Gain-
GNPTABp.Q225H
Missense
SNP
0.455
2--
GNRH1-
-
-
-
3Gain-
GOLGA7-
-
-
-
3Gain-
GOT1L1-
-
-
-
3Gain-
GPAA1-
-
-
-
3Gain-
GPAT4-
-
-
-
3Gain-
GPC2-
-
-
-
3Gain-
GPER1-
-
-
-
3Gain-
GPIHBP1-
-
-
-
3Gain-
GPNMB-
-
-
-
3Gain-
GPR137p.L326M
Missense
SNP
0.500
2--
GPR141-
-
-
-
3Gain-
GPR146-
-
-
-
3Gain-
GPR20-
-
-
-
3Gain-
GPR22-
-
-
-
3Gain-
GPR37-
-
-
-
3Gain-
GPR85p.C114R
Missense
SNP
0.430
3Gain-
GPRIN1p.G894S
Missense
SNP
0.469
2--
GPT-
-
-
-
3Gain-
GPX5p.E114*
Nonsense
SNP
0.455
2--
GRAMD1Cp.L623*
Nonsense
SNP
0.492
2--
GRB10-
-
-
-
3Gain-
GRHL2-
-
-
-
3Gain-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIN2Ap.A827S
Missense
SNP
0.497
2--
GRIN2Cp.A714T
p.A186T
Missense
Missense
SNP
SNP
0.558
0.440
2--
GRINA-
-
-
-
3Gain-
GRIP1p.E835D
Missense
SNP
0.486
2--
GRIP2p.R595M
Missense
SNP
0.556
2--
GRM3-
-
-
-
3Gain-
GRM8-
-
-
-
3Gain-
GSAP-
-
-
-
3Gain-
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
3Gain-
GSDME-
-
-
-
3Gain-
GSR-
-
-
-
3Gain-
GSTCDp.L8I
Missense
SNP
0.706
2--
GSTK1-
-
-
-
3Gain-
GTF2A2p.X102_splice
Splice_Site
SNP
0.545
2--
GTF2E2-
-
-
-
3Gain-
GTF2H5-
-
-
-
1Loss-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTPBP10-
-
-
-
3Gain-
GUSB-
-
-
-
3Gain-
H2AFV-
-
-
-
3Gain-
H6PDp.A102T
Missense
SNP
0.438
2--
HAS2-
-
-
-
3Gain-
HBP1-
-
-
-
3Gain-
HCFC1p.E1651K
Missense
SNP
1.000
NDND-
HCN4p.A177T
Missense
SNP
0.556
2--
HDAC9-
-
-
-
3Gain-
HECTD3p.E775G
Missense
SNP
0.533
2--
HECTD4p.R1975W
Missense
SNP
0.570
2--
HECW1-
-
-
-
3Gain-
HEPACAM2-
-
-
-
3Gain-
HERC2p.R233*
Nonsense
SNP
0.465
2--
HERPUD2-
-
-
-
3Gain-
HEY1-
-
-
-
3Gain-
HGF-
-
-
-
3Gain-
HGH1-
-
-
-
3Gain-
HGSNATp.L474M
Missense
SNP
0.333
3Gain-
HHIPL1p.R127H
Missense
SNP
0.440
2--
HHLA1-
-
-
-
3Gain-
HIBADH-
-
-
-
3Gain-
HILPDA-
-
-
-
3Gain-
HIP1-
-
-
-
3Gain-
HIVEP3p.E2270D
Missense
SNP
0.526
2--
HLA-DOAp.A90S
Missense
SNP
0.138
2--
HMBOX1-
-
-
-
3Gain-
HNF4G-
-
-
-
3Gain-
HNRNPA2B1-
-
-
-
3Gain-
HNRNPDLp.S92F
Missense
SNP
0.500
2--
HNRNPMp.D81V
Missense
SNP
0.469
2--
HOOK3-
-
-
-
3Gain-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HOXC11p.V217L
Missense
SNP
0.563
2--
HOXD10p.C139R
Missense
SNP
0.441
2--
HOXD9p.A106T
Missense
SNP
0.500
2--
HPNp.E409K
Missense
SNP
0.402
2--
HR-
-
-
-
3Gain-
HS6ST3p.N465S
Missense
SNP
0.431
2--
HSBP1L1-
-
-
-
1Loss-
HSF1-
-
-
-
3Gain-
HSPA1Lp.Q443*
Nonsense
SNP
0.496
2--
HSPB1p.W45L
Missense
SNP
0.500
3Gain-
HTR3Bp.A16T
Missense
SNP
0.517
2--
HTR5A-
-
-
-
3Gain-
HTR7p.T240M
Missense
SNP
0.548
2--
HTRA4-
-
-
-
3Gain-
HUS1-
-
-
-
3Gain-
HYAL4-
-
-
-
3Gain-
ICA1-
-
-
-
3Gain-
ICAM5p.V831M
Missense
SNP
0.343
2--
IDO1-
-
-
-
3Gain-
IDO2-
-
-
-
3Gain-
IDUAp.R230*
Nonsense
SNP
0.528
2--
IFNA8p.R144S
Missense
SNP
0.440
2--
IFNW1p.G134R
Missense
SNP
0.555
2--
IFRD1-
-
-
-
3Gain-
IFT122p.R525C
Missense
SNP
0.535
2--
IFT22-
-
-
-
3Gain-
IGF2BP3-
-
-
-
3Gain-
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGLON5p.G200R
Missense
SNP
0.362
2--
IGLV3-1p.A37V
Missense
SNP
0.522
NDND-
IKBKB-
-
-
-
3Gain-
IKZF1p.E356D
Missense
SNP
0.464
3Gain-
IL6-
-
-
-
3Gain-
IL7-
-
-
-
3Gain-
ILDR2p.D609N
Missense
SNP
0.599
2--
IMMP2L-
-
-
-
3Gain-
IMPA1-
-
-
-
3Gain-
IMPAD1-
-
-
-
3Gain-
IMPDH1-
-
-
-
3Gain-
IMPG1p.T76M
Missense
SNP
0.462
2--
ING3p.A63T
p.S168Y
Missense
Missense
SNP
SNP
0.600
0.445
3Gain-
INHBA-
-
-
-
3Gain-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INPP4Bp.K409E
Missense
SNP
0.464
2--
INPP5J-
-
-
-
3Gain-
INSIG1-
-
-
-
3Gain-
INTS1-
-
-
-
3Gain-
INTS10p.L348I
Missense
SNP
0.322
3Gain-
INTS8-
-
-
-
3Gain-
INTS9-
-
-
-
3Gain-
IQANK1-
-
-
-
3Gain-
IQCCp.G293V
Missense
SNP
0.476
2--
IQCDp.G21W
Missense
SNP
0.500
2--
IQCE-
-
-
-
3Gain-
IQCHp.L144I
Missense
SNP
0.560
2--
IQUB-
-
-
-
3Gain-
IRF4p.T267A
Missense
SNP
0.386
2--
IRF5-
-
-
-
3Gain-
IRF6p.P279H
Missense
SNP
0.450
2--
IRGQp.A299T
Missense
SNP
0.551
2--
IRX1p.N387D
Missense
SNP
0.514
2--
IRX2p.R308H
Missense
SNP
0.400
2--
ISPD-
-
-
-
3Gain-
ITGA11p.N694K
p.E408K
Missense
Missense
SNP
SNP
0.578
0.518
2--
ITGA9p.L681F
Missense
SNP
0.632
2--
ITGB8-
-
-
-
3Gain-
ITPRID1-
-
-
-
3Gain-
IVLp.E81V
p.Q237E
p.Q439H
Missense
Missense
Missense
SNP
SNP
SNP
0.536
0.484
0.385
3Gain-
IZUMO1Rp.R144H
Missense
SNP
0.500
2--
JAKMIP1p.A746T
Missense
SNP
0.665
2--
JAMLp.I295T
Missense
SNP
0.537
2--
JAZF1-
-
-
-
3Gain-
JPH1-
-
-
-
3Gain-
JRK-
-
-
-
3Gain-
KANSL2p.C359Y
Missense
SNP
0.509
2--
KAT6A-
-
-
-
3Gain-
KBTBD11-
-
-
-
3Gain-
KBTBD11-OT1-
-
-
-
3Gain-
KBTBD12p.R306W
p.R565H
Missense
Missense
SNP
SNP
0.496
0.521
2--
KBTBD2-
-
-
-
3Gain-
KCNAB3p.R20C
Missense
SNP
0.578
2--
KCNB2-
-
-
-
3Gain-
KCNC3p.N93S
Missense
SNP
0.392
2--
KCND2-
-
-
-
3Gain-
KCNG2-
-
-
-
1Loss-
KCNH2p.A253T
Missense
SNP
0.205
3Gain-
KCNH7p.I511V
Missense
SNP
0.492
2--
KCNJ16p.R211Q
Missense
SNP
0.449
2--
KCNK17p.P196S
Missense
SNP
0.546
2--
KCNK9-
-
-
-
3Gain-
KCNN2p.F216I
Missense
SNP
0.472
2--
KCNQ2p.A92V
Missense
SNP
0.557
2--
KCNQ3-
-
-
-
3Gain-
KCNS2-
-
-
-
3Gain-
KCNU1-
-
-
-
3Gain-
KCNV1-
-
-
-
3Gain-
KCPp.T1348A
Missense
SNP
0.387
3Gain-
KCTD7-
-
-
-
3Gain-
KCTD8p.G160D
p.L113M
Missense
Missense
SNP
SNP
0.471
0.494
2--
KCTD9-
-
-
-
3Gain-
KDELR2-
-
-
-
3Gain-
KDM3Ap.Q321H
Missense
SNP
0.431
2--
KDM6Bp.T821S
p.R1015H
Missense
Missense
SNP
SNP
0.429
0.472
2--
KEL-
-
-
-
3Gain-
KHDC1Lp.P123T
Missense
SNP
0.436
2--
KHDC3Lp.A18V
Missense
SNP
0.516
2--
KHDRBS3-
-
-
-
3Gain-
KIAA0895-
-
-
-
3Gain-
KIAA1109p.A4277V
Missense
SNP
0.517
2--
KIAA1324L-
-
-
-
3Gain-
KIAA1549p.X1592_splice
Splice_Site
SNP
0.625
2--
KIAA1549Lp.T1105N
Missense
SNP
0.465
2--
KIAA2026p.L912P
Missense
SNP
0.461
2--
KIF13B-
-
-
-
3Gain-
KIFC2p.W52C
Missense
SNP
0.718
3Gain-
KITp.S840N
Missense
SNP
0.563
2--
KIZp.S504R
Missense
SNP
0.509
2--
KLF10-
-
-
-
3Gain-
KLF14-
-
-
-
3Gain-
KLHDC10-
-
-
-
3Gain-
KLHL18p.R525C
Missense
SNP
0.524
2--
KLHL32p.K297E
Missense
SNP
0.438
2--
KLHL38-
-
-
-
3Gain-
KLHL7-
-
-
-
3Gain-
KMT2C-
-
-
-
3Gain-
KMT2E-
-
-
-
3Gain-
KPNA7-
-
-
-
3Gain-
KPRP-
-
-
-
3Gain-
KRBA1-
-
-
-
3Gain-
KRI1p.Y87C
Missense
SNP
0.500
2--
KRIT1-
-
-
-
3Gain-
KRT38p.V246A
Missense
SNP
0.509
2--
KRTCAP3p.R192C
Missense
SNP
0.473
2--
KSR1p.S720L
Missense
SNP
0.436
2--
LACTB2-
-
-
-
3Gain-
LAMA4p.L897F
Missense
SNP
0.432
2--
LAMB1-
-
-
-
3Gain-
LAMB3p.G385R
Missense
SNP
0.500
2--
LAMB4-
-
-
-
3Gain-
LAMC3p.Y171C
Missense
SNP
0.511
2--
LAMTOR4-
-
-
-
3Gain-
LANCL2-
-
-
-
3Gain-
LAPTM4B-
-
-
-
3Gain-
LAT2-
-
-
-
3Gain-
LATS1p.P585S
Missense
SNP
0.485
2--
LBHD1p.P217L
Missense
SNP
0.543
2--
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2Dp.P39L
Missense
SNP
0.450
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3B-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LDLRAD3p.R90W
Missense
SNP
0.404
2--
LEP-
-
-
-
3Gain-
LEPROTL1-
-
-
-
3Gain-
LETM2-
-
-
-
3Gain-
LFNG-
-
-
-
3Gain-
LGALS1-
-
-
-
3Gain-
LGALS2-
-
-
-
3Gain-
LGI3-
-
-
-
3Gain-
LHCGRp.I573N
Missense
SNP
0.452
2--
LHFPp.R70C
Missense
SNP
0.533
NDND-
LHFPL3-
-
-
-
3Gain-
LIFRp.D922Y
Missense
SNP
0.539
2--
LIG3p.K670R
Missense
SNP
0.422
2--
LIMK1-
-
-
-
3Gain-
LIPGp.L149F
Missense
SNP
0.250
2--
LLCFC1-
-
-
-
3Gain-
LMAN1Lp.R31C
Missense
SNP
0.475
2--
LMBR1-
-
-
-
3Gain-
LMOD2-
-
-
-
3Gain-
LMTK2-
-
-
-
3Gain-
LONRF1-
-
-
-
3Gain-
LONRF2p.A631V
Missense
SNP
0.585
2--
LOXp.G78V
Missense
SNP
0.722
2--
LOXL2-
-
-
-
3Gain-
LPAR5p.A266V
Missense
SNP
0.536
2--
LPL-
-
-
-
3Gain-
LRCH4-
-
-
-
3Gain-
LRP12-
-
-
-
3Gain-
LRP1Bp.C2701Y
Missense
SNP
0.471
2--
LRRC14-
-
-
-
3Gain-
LRRC17-
-
-
-
3Gain-
LRRC24-
-
-
-
3Gain-
LRRC4-
-
-
-
3Gain-
LRRC6-
-
-
-
3Gain-
LRRC61-
-
-
-
3Gain-
LRRC69p.R305Q
Missense
SNP
0.617
3Gain-
LRRC72-
-
-
-
3Gain-
LRRC8Ep.R532W
Missense
SNP
0.397
2--
LRRCC1-
-
-
-
3Gain-
LRRD1-
-
-
-
3Gain-
LRRFIP2p.R461H
Missense
SNP
0.450
2--
LRRN3-
-
-
-
3Gain-
LRWD1-
-
-
-
3Gain-
LSM1-
-
-
-
3Gain-
LSM12p.A91T
Missense
SNP
0.616
2--
LSM5-
-
-
-
3Gain-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LY6Dp.R22C
Missense
SNP
0.390
3Gain-
LY6E-
-
-
-
3Gain-
LY6H-
-
-
-
3Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
3Gain-
LY96-
-
-
-
3Gain-
LYN-
-
-
-
3Gain-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD2-
-
-
-
3Gain-
LYPLA1-
-
-
-
3Gain-
LZTS1-
-
-
-
3Gain-
MACC1-
-
-
-
3Gain-
MAD1L1-
-
-
-
3Gain-
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAFK-
-
-
-
3Gain-
MAGI2p.D105N
Missense
SNP
0.579
3Gain-
MAK16-
-
-
-
3Gain-
MAL2-
-
-
-
3Gain-
MALSU1-
-
-
-
3Gain-
MAML2p.Q746*
Nonsense
SNP
0.434
2--
MAN1A1p.X273_splice
Splice_Site
SNP
0.500
2--
MAN1B1p.S447T
Missense
SNP
0.515
2--
MAN2B1p.A878T
Missense
SNP
0.357
2--
MAP1Bp.G1424D
Missense
SNP
0.400
2--
MAP2K7p.D277N
Missense
SNP
0.485
2--
MAP3K13p.S83R
Missense
SNP
0.507
2--
MAP3K4p.R1146W
Missense
SNP
0.561
2--
MAPK11p.V327I
Missense
SNP
0.504
2--
MAPK15-
-
-
-
3Gain-
MARS2p.L63M
Missense
SNP
0.514
2--
MASP1p.D132G
Missense
SNP
0.494
2--
MAST4p.D2262N
p.K2563N
Missense
Missense
SNP
SNP
0.493
0.453
2--
MATN2-
-
-
-
3Gain-
MBLAC1-
-
-
-
3Gain-
MBOAT4-
-
-
-
3Gain-
MC4Rp.P230S
Missense
SNP
0.561
2--
MCF2p.Q276*
Nonsense
SNP
1.000
NDND-
MCIDASp.R327H
Missense
SNP
0.462
2--
MCM4-
-
-
-
3Gain-
MCM7-
-
-
-
3Gain-
MCMDC2-
-
-
-
3Gain-
MCPH1-
-
-
-
3Gain-
MDFIC-
-
-
-
3Gain-
MDH2-
-
-
-
3Gain-
ME2p.A475T
Missense
SNP
0.443
2--
MED26p.P8S
Missense
SNP
0.280
2--
MED30-
-
-
-
3Gain-
MEGF9p.G222V
Missense
SNP
0.452
2--
MEIS2p.P32L
Missense
SNP
0.376
2--
MELTFp.V573I
Missense
SNP
0.520
2--
MEOX2-
-
-
-
3Gain-
MEPCE-
-
-
-
3Gain-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METTL13p.D73V
p.A253D
Missense
Missense
SNP
SNP
0.526
0.534
2--
METTL27-
-
-
-
3Gain-
METTL2Ap.P28T
Missense
SNP
0.468
2--
METTL2B-
-
-
-
3Gain-
MFHAS1-
-
-
-
3Gain-
MFNG-
-
-
-
3Gain-
MFSD3-
-
-
-
3Gain-
MGAM-
-
-
-
3Gain-
MGAM2-
-
-
-
3Gain-
MGME1p.V20A
Missense
SNP
0.435
2--
MICALL2p.G33D
Missense
SNP
0.328
3Gain-
MICU2p.L433I
Missense
SNP
0.559
2--
MICU3-
-
-
-
3Gain-
MINDY4-
-
-
-
3Gain-
MINK1p.R1017*
Nonsense
SNP
0.379
2--
MIOS-
-
-
-
3Gain-
MKLN1-
-
-
-
3Gain-
MLLT4p.Q714*
Nonsense
SNP
0.518
NDND-
MLXIPL-
-
-
-
3Gain-
MMD2-
-
-
-
3Gain-
MMP16-
-
-
-
3Gain-
MOGAT3-
-
-
-
3Gain-
MON2p.I1199M
Missense
SNP
0.519
2--
MORC2p.R981H
Missense
SNP
0.557
2--
MORC3p.D591Y
Missense
SNP
0.546
2--
MOS-
-
-
-
3Gain-
MOSPD3-
-
-
-
3Gain-
MOV10L1p.K711N
Missense
SNP
0.505
2--
MPDZp.D2006N
p.G396*
Missense
Nonsense
SNP
SNP
0.477
0.358
2--
MPLKIP-
-
-
-
3Gain-
MPP6-
-
-
-
3Gain-
MPPED1p.R202W
Missense
SNP
0.476
2--
MRM2-
-
-
-
3Gain-
MROH1-
-
-
-
3Gain-
MROH2Bp.A1207D
Missense
SNP
0.387
2--
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
3Gain-
MRPL13-
-
-
-
3Gain-
MRPL15-
-
-
-
3Gain-
MRPL32-
-
-
-
3Gain-
MRPS17-
-
-
-
3Gain-
MRPS24-
-
-
-
3Gain-
MRPS28-
-
-
-
3Gain-
MS4A2p.M113I
Missense
SNP
0.411
2--
MSC-
-
-
-
3Gain-
MSL3p.R458*
Nonsense
SNP
1.000
NDND-
MSR1-
-
-
-
3Gain-
MSRA-
-
-
-
3Gain-
MTBP-
-
-
-
3Gain-
MTCL1p.K446N
p.Y722C
Missense
Missense
SNP
SNP
0.498
0.548
2--
MTDH-
-
-
-
3Gain-
MTERF1-
-
-
-
3Gain-
MTERF3-
-
-
-
3Gain-
MTFR1-
-
-
-
3Gain-
MTMR10p.S561R
Missense
SNP
0.441
2--
MTMR4p.V814I
Missense
SNP
0.639
2--
MTMR7-
-
-
-
3Gain-
MTMR9-
-
-
-
3Gain-
MTSS1-
-
-
-
3Gain-
MTURN-
-
-
-
3Gain-
MTUS1-
-
-
-
3Gain-
MUC12-
-
-
-
3Gain-
MUC17-
-
-
-
3Gain-
MUC3A-
-
-
-
3Gain-
MYBL1-
-
-
-
3Gain-
MYBPC2p.M241T
Missense
SNP
0.511
2--
MYC-
-
-
-
3Gain-
MYH1p.E1709D
Missense
SNP
0.538
2--
MYH6p.R1047C
Missense
SNP
0.460
2--
MYL10-
-
-
-
3Gain-
MYL7-
-
-
-
3Gain-
MYO15Ap.G759R
Missense
SNP
0.617
2--
MYO1G-
-
-
-
3Gain-
MYO6p.Y249C
Missense
SNP
0.558
2--
MYOM2-
-
-
-
3Gain-
NACAD-
-
-
-
3Gain-
NAGSp.Q126H
Missense
SNP
0.480
2--
NAMPT-
-
-
-
3Gain-
NAPEPLD-
-
-
-
3Gain-
NAPRT-
-
-
-
3Gain-
NAT1-
-
-
-
3Gain-
NAT16-
-
-
-
3Gain-
NAT2-
-
-
-
3Gain-
NAV3p.A74V
p.P1000L
Missense
Missense
SNP
SNP
0.600
0.473
2--
NBN-
-
-
-
3Gain-
NBPF20-
-
-
-
5Amp-
NCALD-
-
-
-
3Gain-
NCANp.A665T
p.P747S
Missense
Missense
SNP
SNP
0.477
0.524
2--
NCF1-
-
-
-
3Gain-
NCKAP5p.F1888S
p.H1606D
Missense
Missense
SNP
SNP
0.391
0.477
2--
NCOA2-
-
-
-
3Gain-
NDRG1-
-
-
-
3Gain-
NDUFA4-
-
-
-
3Gain-
NDUFA5-
-
-
-
3Gain-
NDUFAF6p.L138I
Missense
SNP
0.688
3Gain-
NDUFB9-
-
-
-
3Gain-
NEBp.A3455V
Missense
SNP
0.444
2--
NECAB1-
-
-
-
3Gain-
NEFL-
-
-
-
3Gain-
NEFM-
-
-
-
3Gain-
NEIL2-
-
-
-
3Gain-
NEK1p.A56T
Missense
SNP
0.414
2--
NELL2p.S432Y
Missense
SNP
0.479
2--
NEU3p.R158H
Missense
SNP
0.622
2--
NEUROD6-
-
-
-
3Gain-
NFATC1-
-
-
-
1Loss-
NFE2L3-
-
-
-
3Gain-
NFE4-
-
-
-
3Gain-
NIPAL2-
-
-
-
3Gain-
NIPSNAP2-
-
-
-
3Gain-
NKAIN3-
-
-
-
3Gain-
NKX2-4p.A123V
Missense
SNP
0.509
2--
NKX2-6-
-
-
-
3Gain-
NKX3-1-
-
-
-
3Gain-
NKX6-3-
-
-
-
3Gain-
NME8-
-
-
-
3Gain-
NOBOX-
-
-
-
3Gain-
NOC4Lp.D163G
Missense
SNP
0.447
2--
NOD1-
-
-
-
3Gain-
NOL12-
-
-
-
3Gain-
NOL6p.G28C
Missense
SNP
0.458
2--
NOLC1p.P116L
Missense
SNP
0.588
2--
NOM1-
-
-
-
3Gain-
NOP9p.L423I
Missense
SNP
0.450
2--
NOS1p.X878_splice
p.W414*
Splice_Site
Nonsense
SNP
SNP
0.564
0.463
2--
NOS3-
-
-
-
3Gain-
NOV-
-
-
-
3Gain-
NPAS3p.E376D
Missense
SNP
0.440
2--
NPBWR1-
-
-
-
3Gain-
NPC1L1-
-
-
-
3Gain-
NPM2-
-
-
-
3Gain-
NPRL3p.F547S
Missense
SNP
0.486
2--
NPSR1-
-
-
-
3Gain-
NPTX1p.D40G
Missense
SNP
0.444
2--
NPTX2-
-
-
-
3Gain-
NPVF-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NR1I2p.A25V
Missense
SNP
0.523
2--
NRBP2-
-
-
-
3Gain-
NRCAM-
-
-
-
3Gain-
NRF1-
-
-
-
3Gain-
NRG1-
-
-
-
3Gain-
NRXN1p.E221K
Missense
SNP
0.374
2--
NSD3-
-
-
-
3Gain-
NSMAF-
-
-
-
3Gain-
NSMCE2-
-
-
-
3Gain-
NSUN5-
-
-
-
3Gain-
NT5C3A-
-
-
-
3Gain-
NT5DC3p.R495C
Missense
SNP
0.511
2--
NTN5p.T301I
Missense
SNP
0.484
2--
NUB1-
-
-
-
3Gain-
NUDCD1-
-
-
-
3Gain-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT18-
-
-
-
3Gain-
NUGGC-
-
-
-
3Gain-
NUP98p.X83_splice
Splice_Site
SNP
0.484
2--
NUPL2-
-
-
-
3Gain-
NUPR2-
-
-
-
3Gain-
NXNL2p.L48F
Missense
SNP
0.600
2--
NXPH1-
-
-
-
3Gain-
NYAP1p.A367V
p.G665C
Missense
Missense
SNP
SNP
0.384
0.286
3Gain-
OBSCNp.Y1696H
Missense
SNP
0.367
2--
OC90-
-
-
-
3Gain-
OCM-
-
-
-
3Gain-
OCM2-
-
-
-
3Gain-
ODF1-
-
-
-
3Gain-
ODF2p.R158W
Missense
SNP
0.544
2--
OGDH-
-
-
-
3Gain-
OGFRp.T504R
Missense
SNP
0.563
2--
OPCMLp.A229V
Missense
SNP
0.458
2--
OPHN1p.N173I
Missense
SNP
1.000
NDND-
OPLAH-
-
-
-
3Gain-
OPN1SW-
-
-
-
3Gain-
OPRK1-
-
-
-
3Gain-
OR14K1p.A115T
Missense
SNP
0.450
2--
OR1S2p.I111S
Missense
SNP
0.552
2--
OR2A1-
-
-
-
3Gain-
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A42-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2A7-
-
-
-
3Gain-
OR2AE1-
-
-
-
3Gain-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR2J2p.M60L
Missense
SNP
0.515
2--
OR4K1-
-
-
-
4Gain-
OR4K2-
-
-
-
4Gain-
OR4K5-
-
-
-
4Gain-
OR4M1-
-
-
-
4Gain-
OR4N2-
-
-
-
4Gain-
OR4Q3-
-
-
-
1Loss-
OR52E2p.P270S
p.L111V
Missense
Missense
SNP
SNP
0.500
0.500
2--
OR5B17p.T238I
Missense
SNP
0.386
2--
OR5H2p.M141I
Missense
SNP
0.450
2--
OR5T3p.T6R
Missense
SNP
0.510
2--
OR6B1-
-
-
-
3Gain-
OR6Q1p.H26R
Missense
SNP
0.455
2--
OR6V1-
-
-
-
3Gain-
OR8G1p.A156V
Missense
SNP
0.500
2--
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
ORAI2-
-
-
-
3Gain-
ORC5-
-
-
-
3Gain-
OSBP2p.P861S
Missense
SNP
0.440
2--
OSBPL3-
-
-
-
3Gain-
OSGIN2-
-
-
-
3Gain-
OSR2-
-
-
-
3Gain-
OTUD6B-
-
-
-
3Gain-
OXR1-
-
-
-
3Gain-
OXTp.G109S
Missense
SNP
0.454
2--
P2RY6p.H313R
Missense
SNP
0.514
2--
PABPC1-
-
-
-
3Gain-
PABPC4L-
-
-
-
3Gain-
PAG1-
-
-
-
3Gain-
PAPOLB-
-
-
-
3Gain-
PARP10-
-
-
-
3Gain-
PAX4-
-
-
-
3Gain-
PAXIP1-
-
-
-
3Gain-
PBK-
-
-
-
3Gain-
PCDH10-
-
-
-
3Gain-
PCDH15p.A1607T
Missense
SNP
0.452
2--
PCDH18-
-
-
-
3Gain-
PCDH7-
-
-
-
3Gain-
PCDH8p.G914S
Missense
SNP
0.488
2--
PCDH9p.P1085H
p.T573S
p.A54T
Missense
Missense
Missense
SNP
SNP
SNP
0.512
0.429
0.544
2--
PCDHA10-
-
-
-
1Loss-
PCDHA11p.V697M
Missense
SNP
0.500
1Loss-
PCDHA12-
-
-
-
1Loss-
PCDHA9p.R623C
Missense
SNP
1.000
1Loss-
PCDHB2p.P498S
Missense
SNP
0.566
2--
PCDHB3p.A239V
Missense
SNP
0.460
2--
PCDHGA12p.S360F
Missense
SNP
0.510
2--
PCDHGA6p.T628M
Missense
SNP
0.500
2--
PCDHGB3p.V449I
Missense
SNP
0.538
2--
PCED1Ap.E119K
Missense
SNP
0.478
2--
PCLO-
-
-
-
3Gain-
PCM1p.F1681L
Missense
SNP
0.646
3Gain-
PCMTD1-
-
-
-
3Gain-
PCOLCE-
-
-
-
3Gain-
PDAP1-
-
-
-
3Gain-
PDE10Ap.C418R
Missense
SNP
0.526
2--
PDE1C-
-
-
-
3Gain-
PDE7A-
-
-
-
3Gain-
PDGFA-
-
-
-
3Gain-
PDGFRL-
-
-
-
3Gain-
PDIA4-
-
-
-
3Gain-
PDK4-
-
-
-
3Gain-
PDLIM2-
-
-
-
3Gain-
PDP1-
-
-
-
3Gain-
PDXP-
-
-
-
3Gain-
PDZRN4p.R190C
Missense
SNP
0.532
2--
PEBP4-
-
-
-
3Gain-
PEG10-
-
-
-
3Gain-
PEG3p.G59E
Missense
SNP
0.387
2--
PENK-
-
-
-
3Gain-
PEX1-
-
-
-
3Gain-
PEX2-
-
-
-
3Gain-
PFASp.K440N
Missense
SNP
0.580
2--
PGAM2-
-
-
-
3Gain-
PGLYRP2p.T487I
Missense
SNP
0.535
2--
PGRp.E791*
Nonsense
SNP
0.423
2--
PHF14-
-
-
-
3Gain-
PHF20L1-
-
-
-
3Gain-
PHKG1-
-
-
-
3Gain-
PHKG2p.X216_splice
Splice_Site
SNP
0.540
2--
PHLPP1p.Q1131H
Missense
SNP
0.535
2--
PHOSPHO1p.R249H
Missense
SNP
0.491
2--
PHTF2-
-
-
-
3Gain-
PHYHIPp.A235V
Missense
SNP
0.403
3Gain-
PI15-
-
-
-
3Gain-
PI4KAp.K1808N
Missense
SNP
0.407
2--
PIK3C3p.G48R
Missense
SNP
0.461
2--
PIK3CGp.Q105K
Missense
SNP
0.317
3Gain-
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PINLYPp.T214I
Missense
SNP
0.500
2--
PINX1-
-
-
-
3Gain-
PIP-
-
-
-
3Gain-
PIP4P2-
-
-
-
3Gain-
PITPNM2p.H1042Y
Missense
SNP
0.554
2--
PIWIL2-
-
-
-
3Gain-
PJA1p.A423T
Missense
SNP
1.000
NDND-
PKD1L1p.R256H
Missense
SNP
0.490
3Gain-
PKHD1p.V1716I
Missense
SNP
0.488
2--
PKHD1L1-
-
-
-
3Gain-
PKIA-
-
-
-
3Gain-
PKN1p.R510H
Missense
SNP
0.486
2--
PLA2G2Ap.G45S
Missense
SNP
0.493
2--
PLA2G2Ep.M27T
Missense
SNP
0.404
2--
PLAG1-
-
-
-
3Gain-
PLAT-
-
-
-
3Gain-
PLCE1p.R2015I
Missense
SNP
0.639
2--
PLCG1p.X1186_splice
Splice_Site
SNP
0.478
2--
PLECp.D817N
Missense
SNP
0.670
3Gain-
PLEKHA2-
-
-
-
3Gain-
PLEKHA4p.P474L
Missense
SNP
0.495
2--
PLEKHA8-
-
-
-
3Gain-
PLEKHF2-
-
-
-
3Gain-
PLOD3-
-
-
-
3Gain-
PLPBP-
-
-
-
3Gain-
PLPP5-
-
-
-
3Gain-
PLSCR5p.N141S
Missense
SNP
0.459
2--
PLXNA4p.V1197I
Missense
SNP
0.443
2--
PLXNB3p.A1867V
Missense
SNP
1.000
NDND-
PMP2-
-
-
-
3Gain-
PMPCB-
-
-
-
3Gain-
PMS2-
-
-
-
3Gain-
PNMA2-
-
-
-
3Gain-
PNOC-
-
-
-
3Gain-
PNPLA8-
-
-
-
3Gain-
POLB-
-
-
-
3Gain-
POLD2-
-
-
-
3Gain-
POLM-
-
-
-
3Gain-
POLNp.F898S
Missense
SNP
0.478
2--
POLR2Ap.G816R
Missense
SNP
0.512
2--
POLR2J-
-
-
-
3Gain-
POLR2J2-
-
-
-
3Gain-
POLR2J3-
-
-
-
3Gain-
POLR2K-
-
-
-
3Gain-
POLR3D-
-
-
-
3Gain-
POLR3Ep.T705I
Missense
SNP
0.409
2--
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12-
-
-
-
3Gain-
POM121L2p.S846P
Missense
SNP
0.408
2--
POMK-
-
-
-
3Gain-
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP1-
-
-
-
3Gain-
POP7-
-
-
-
3Gain-
PORp.A661V
Missense
SNP
0.621
3Gain-
POT1-
-
-
-
3Gain-
POU5F1B-
-
-
-
3Gain-
POU6F2-
-
-
-
3Gain-
PPDPFL-
-
-
-
3Gain-
PPFIBP2p.R754L
Missense
SNP
0.440
2--
PPIA-
-
-
-
3Gain-
PPP1R16A-
-
-
-
3Gain-
PPP1R17-
-
-
-
3Gain-
PPP1R35-
-
-
-
3Gain-
PPP1R3A-
-
-
-
3Gain-
PPP1R3B-
-
-
-
3Gain-
PPP1R42-
-
-
-
3Gain-
PPP1R9A-
-
-
-
3Gain-
PPP2CB-
-
-
-
3Gain-
PPP2R2Ap.S123P
Missense
SNP
0.429
3Gain-
PPP2R2Bp.S349L
Missense
SNP
0.485
2--
PPP3CC-
-
-
-
3Gain-
PQLC1-
-
-
-
1Loss-
PRAG1-
-
-
-
3Gain-
PRDM14-
-
-
-
3Gain-
PRDM9-
-
-
-
3Gain-
PREX2-
-
-
-
3Gain-
PRKAG2-
-
-
-
3Gain-
PRKAR1B-
-
-
-
3Gain-
PRKAR2B-
-
-
-
3Gain-
PRKCDp.R144C
Missense
SNP
0.522
2--
PRKCHp.R147K
Missense
SNP
0.438
2--
PRKDCp.M3450I
Missense
SNP
0.605
3Gain-
PRKRIP1-
-
-
-
3Gain-
PRPF31p.V92I
Missense
SNP
0.555
2--
PRPF38Bp.R301C
Missense
SNP
0.571
2--
PRPS1L1-
-
-
-
3Gain-
PRR15-
-
-
-
3Gain-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRRT4-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS2-
-
-
-
3Gain-
PRSS37-
-
-
-
3Gain-
PRSS55-
-
-
-
3Gain-
PRSS56p.X86_splice
Splice_Site
SNP
0.508
2--
PRSS58-
-
-
-
3Gain-
PRTGp.R282W
Missense
SNP
0.517
2--
PRUNE1p.L151M
Missense
SNP
0.491
2--
PSCA-
-
-
-
3Gain-
PSD3-
-
-
-
3Gain-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSG9-
-
-
-
1Loss-
PSKH2-
-
-
-
3Gain-
PSMA2-
-
-
-
3Gain-
PSMC2-
-
-
-
3Gain-
PSMD12p.X388_splice
Splice_Site
SNP
0.415
2--
PSMG3-
-
-
-
3Gain-
PSPH-
-
-
-
3Gain-
PTCD1-
-
-
-
3Gain-
PTDSS1-
-
-
-
3Gain-
PTF1Ap.G227S
Missense
SNP
0.438
2--
PTK2-
-
-
-
3Gain-
PTK2B-
-
-
-
3Gain-
PTP4A3-
-
-
-
3Gain-
PTPN12-
-
-
-
3Gain-
PTPRDp.A1900T
Missense
SNP
0.504
2--
PTPRZ1-
-
-
-
3Gain-
PUF60-
-
-
-
3Gain-
PURB-
-
-
-
3Gain-
PURG-
-
-
-
3Gain-
PUS7-
-
-
-
3Gain-
PVRIG-
-
-
-
3Gain-
PXDNp.R1129C
Missense
SNP
0.511
2--
PXDNLp.Q1322H
Missense
SNP
0.389
3Gain-
PYCR3-
-
-
-
3Gain-
QTRT2p.D110N
Missense
SNP
0.450
2--
R3HCC1-
-
-
-
3Gain-
RAB11FIP1-
-
-
-
3Gain-
RAB11FIP4p.V110M
Missense
SNP
0.450
2--
RAB18p.E3D
Missense
SNP
0.619
2--
RAB20p.R29H
Missense
SNP
0.494
2--
RAB2A-
-
-
-
3Gain-
RAB3GAP1p.V657A
Missense
SNP
0.567
2--
RABGEF1-
-
-
-
3Gain-
RAC1-
-
-
-
3Gain-
RAC2p.C157Y
p.R102W
Missense
Missense
SNP
SNP
0.476
0.443
2--
RAD21-
-
-
-
3Gain-
RAD54B-
-
-
-
3Gain-
RAD54L2p.R467L
Missense
SNP
0.382
2--
RADILp.H896Y
Missense
SNP
0.308
3Gain-
RAF1p.C577Y
Missense
SNP
0.458
2--
RALA-
-
-
-
3Gain-
RALYL-
-
-
-
3Gain-
RAMP3-
-
-
-
3Gain-
RAPGEF5-
-
-
-
3Gain-
RARRES2-
-
-
-
3Gain-
RARS2p.V375M
Missense
SNP
0.450
2--
RASA4-
-
-
-
3Gain-
RASA4B-
-
-
-
3Gain-
RAXp.D45N
Missense
SNP
0.510
2--
RB1CC1-
-
-
-
3Gain-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDNp.R108C
Missense
SNP
0.630
3Gain-
RBFA-
-
-
-
1Loss-
RBM12B-
-
-
-
3Gain-
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM48-
-
-
-
3Gain-
RBPMS-
-
-
-
3Gain-
RC3H1p.K48N
Missense
SNP
0.595
2--
RCC1L-
-
-
-
3Gain-
RCN3p.R103C
Missense
SNP
0.427
2--
RDH10-
-
-
-
3Gain-
RECQL4-
-
-
-
3Gain-
REEP4-
-
-
-
3Gain-
RELN-
-
-
-
3Gain-
REPIN1-
-
-
-
3Gain-
RETp.R114C
Missense
SNP
0.439
2--
RFC2-
-
-
-
3Gain-
RFX6p.R652*
Nonsense
SNP
0.536
2--
RGS20-
-
-
-
3Gain-
RGS22-
-
-
-
3Gain-
RHBDD2-
-
-
-
3Gain-
RHEB-
-
-
-
3Gain-
RHOBTB2-
-
-
-
3Gain-
RHPN1-
-
-
-
3Gain-
RIDA-
-
-
-
3Gain-
RIMS2-
-
-
-
3Gain-
RINT1-
-
-
-
3Gain-
RIOK3p.V496I
Missense
SNP
0.520
2--
RIPK2-
-
-
-
3Gain-
RMDN1-
-
-
-
3Gain-
RNA5-8SN2-
-
-
-
NDNDRNA5-8SN2--RPL18
RNF122-
-
-
-
3Gain-
RNF133-
-
-
-
3Gain-
RNF139-
-
-
-
3Gain-
RNF148-
-
-
-
3Gain-
RNF170-
-
-
-
3Gain-
RNF19A-
-
-
-
3Gain-
RNF216-
-
-
-
3Gain-
RNF32-
-
-
-
3Gain-
RNF40p.S159I
Missense
SNP
0.434
2--
ROBO2p.A279V
Missense
SNP
0.545
2--
ROR2p.A23T
Missense
SNP
0.553
2--
RP1-
-
-
-
3Gain-
RP11-310K10.1p.K944E
Missense
SNP
0.442
NDND-
RP11-318A15.7p.S100R
Missense
SNP
0.500
NDND-
RP1L1-
-
-
-
3Gain-
RP5-862P8.2p.R553Q
Missense
SNP
0.669
NDND-
RP9-
-
-
-
3Gain-
RPA3-
-
-
-
3Gain-
RPEp.A187T
Missense
SNP
0.496
2--
RPL13p.A202S
Missense
SNP
0.517
2--
RPL18-
-
-
-
2-RNA5-8SN2--RPL18
RPL19p.R172C
Missense
SNP
0.487
2--
RPL30-
-
-
-
3Gain-
RPL7-
-
-
-
3Gain-
RPL8-
-
-
-
3Gain-
RPS20-
-
-
-
3Gain-
RRM2B-
-
-
-
3Gain-
RRS1-
-
-
-
3Gain-
RSBN1L-
-
-
-
3Gain-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH14p.A295V
Missense
SNP
0.524
2--
RSPO2-
-
-
-
3Gain-
RTP5p.V554I
Missense
SNP
0.473
2--
RUNDC3B-
-
-
-
3Gain-
RUNX1T1-
-
-
-
3Gain-
RYR1p.H1412Q
Missense
SNP
0.487
2--
RYR2p.V1579M
Missense
SNP
0.472
2--
RYR3p.P3128T
Missense
SNP
0.296
2--
SAGp.D307G
Missense
SNP
0.591
2--
SALL3-
-
-
-
1Loss-
SAMD12-
-
-
-
3Gain-
SAMD9-
-
-
-
3Gain-
SAMD9L-
-
-
-
3Gain-
SAP25-
-
-
-
3Gain-
SARAF-
-
-
-
3Gain-
SASH1p.X172_splice
Splice_Site
SNP
0.394
2--
SBDS-
-
-
-
3Gain-
SBSPON-
-
-
-
3Gain-
SCARA3-
-
-
-
3Gain-
SCARA5-
-
-
-
3Gain-
SCIN-
-
-
-
3Gain-
SCRIB-
-
-
-
3Gain-
SCRN1-
-
-
-
3Gain-
SCRT1-
-
-
-
3Gain-
SCX-
-
-
-
3Gain-
SDC2-
-
-
-
3Gain-
SDCBP-
-
-
-
3Gain-
SDHAF3-
-
-
-
3Gain-
SDK1-
-
-
-
3Gain-
SDR16C5-
-
-
-
3Gain-
SEC61G-
-
-
-
3Gain-
SELENOM-
-
-
-
3Gain-
SEM1-
-
-
-
3Gain-
SEMA3Ap.S332R
Missense
SNP
0.659
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA4Gp.K664E
Missense
SNP
0.429
2--
SENP3p.R131K
Missense
SNP
0.469
2--
SEPT14-
-
-
-
3Gain-
SEPT7-
-
-
-
3Gain-
SEPT9p.W6C
Missense
SNP
0.375
2--
SERAC1-
-
-
-
1Loss-
SERPINA4p.H395Q
Missense
SNP
0.414
2--
SERPINE1-
-
-
-
3Gain-
SERPING1p.V288G
Missense
SNP
0.539
2--
SF3B2p.G796R
Missense
SNP
0.596
2--
SFRP1-
-
-
-
3Gain-
SFRP4-
-
-
-
3Gain-
SFSWAPp.E179K
Missense
SNP
0.449
2--
SFTPC-
-
-
-
3Gain-
SGCE-
-
-
-
3Gain-
SGCZ-
-
-
-
3Gain-
SGK3-
-
-
-
3Gain-
SH2B2-
-
-
-
3Gain-
SH2D2Ap.Q82H
Missense
SNP
0.595
2--
SH2D4A-
-
-
-
3Gain-
SH3BP1-
-
-
-
3Gain-
SHARPIN-
-
-
-
3Gain-
SHEp.G32S
Missense
SNP
0.450
2--
SHH-
-
-
-
3Gain-
SKAP2-
-
-
-
3Gain-
SLA-
-
-
-
3Gain-
SLC10A5-
-
-
-
3Gain-
SLC12A5p.G210D
Missense
SNP
0.455
2--
SLC12A9-
-
-
-
3Gain-
SLC13A1-
-
-
-
3Gain-
SLC18A1-
-
-
-
3Gain-
SLC18A3p.P144S
Missense
SNP
0.437
2--
SLC20A2-
-
-
-
3Gain-
SLC25A13-
-
-
-
3Gain-
SLC25A32-
-
-
-
3Gain-
SLC25A34p.G303C
Missense
SNP
0.683
2--
SLC25A37-
-
-
-
3Gain-
SLC25A40-
-
-
-
3Gain-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A7-
-
-
-
3Gain-
SLC27A5p.R650H
Missense
SNP
0.512
2--
SLC29A4-
-
-
-
3Gain-
SLC30A8-
-
-
-
3Gain-
SLC35F6p.A252T
Missense
SNP
0.520
2--
SLC35G5-
-
-
-
3Gain-
SLC37A1p.X188_splice
Splice_Site
SNP
0.523
2--
SLC39A14-
-
-
-
3Gain-
SLC39A4-
-
-
-
3Gain-
SLC45A4-
-
-
-
3Gain-
SLC4A2-
-
-
-
3Gain-
SLC52A2-
-
-
-
3Gain-
SLC7A13-
-
-
-
3Gain-
SLC7A2-
-
-
-
3Gain-
SLC7A4p.P420S
Missense
SNP
0.527
2--
SLC8A2p.R552H
Missense
SNP
0.615
2--
SLC8A3p.Y354N
Missense
SNP
0.564
2--
SLC9A3R2p.A115T
Missense
SNP
0.489
2--
SLCO3A1p.A243V
Missense
SNP
0.479
2--
SLCO5A1-
-
-
-
3Gain-
SLFNL1p.Q290*
Nonsense
SNP
0.556
2--
SLIT2p.G1153E
Missense
SNP
0.421
2--
SLITRK5p.A745V
Missense
SNP
0.479
2--
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SMARCA4p.T910M
Missense
SNP
0.500
2--
SMARCD3-
-
-
-
3Gain-
SMC4p.N1278K
Missense
SNP
0.507
2--
SMCP-
-
-
-
3Gain-
SMG5p.E730*
Nonsense
SNP
0.643
2--
SMIM18-
-
-
-
3Gain-
SMIM19-
-
-
-
3Gain-
SMIM30-
-
-
-
3Gain-
SMKR1-
-
-
-
3Gain-
SMO-
-
-
-
3Gain-
SMURF1-
-
-
-
3Gain-
SNAI2-
-
-
-
3Gain-
SNAP25p.K94E
Missense
SNP
0.459
2--
SND1-
-
-
-
3Gain-
SNTB1-
-
-
-
3Gain-
SNTG1-
-
-
-
3Gain-
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX16-
-
-
-
3Gain-
SNX18p.S549R
Missense
SNP
0.524
2--
SNX31-
-
-
-
3Gain-
SNX4p.R106*
Nonsense
SNP
0.513
2--
SNX8-
-
-
-
3Gain-
SNX9-
-
-
-
2-SNX9--TULP4
SOAT1p.V184I
Missense
SNP
0.463
2--
SOCS3p.R39H
Missense
SNP
0.429
2--
SORBS3-
-
-
-
3Gain-
SORCS2p.V322C
Missense
DNP
0.505
2--
SOSTDC1-
-
-
-
3Gain-
SOX17-
-
-
-
3Gain-
SOX7-
-
-
-
3Gain-
SP4-
-
-
-
3Gain-
SP8p.A200T
Missense
SNP
0.403
3Gain-
SPAG1-
-
-
-
3Gain-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAM1-
-
-
-
3Gain-
SPATA31D1p.F1043L
Missense
SNP
0.459
2--
SPATA48-
-
-
-
3Gain-
SPATC1-
-
-
-
3Gain-
SPDYE3-
-
-
-
3Gain-
SPIDR-
-
-
-
3Gain-
SPRYD3p.R280Q
Missense
SNP
0.542
2--
SQLE-
-
-
-
3Gain-
SRI-
-
-
-
3Gain-
SRPK2-
-
-
-
3Gain-
SRRM3p.X213_splice
Splice_Site
SNP
0.609
3Gain-
SRRT-
-
-
-
3Gain-
SSC4D-
-
-
-
3Gain-
SSMEM1-
-
-
-
3Gain-
SSPO-
-
-
-
3Gain-
SSU72P8-
-
-
-
3Gain-
ST18-
-
-
-
3Gain-
ST3GAL1-
-
-
-
3Gain-
ST6GALNAC1p.X44_splice
Splice_Site
SNP
0.402
2--
ST6GALNAC5p.C280Y
Missense
SNP
0.517
2--
ST7-
-
-
-
3Gain-
STAB1p.C1430R
Missense
SNP
0.386
2--
STAG3-
-
-
-
3Gain-
STAR-
-
-
-
3Gain-
STARD3NL-
-
-
-
3Gain-
STARD9p.S3692L
p.L3745M
Missense
Missense
SNP
SNP
0.486
0.445
2--
STAT1p.H568Y
Missense
SNP
0.444
2--
STAT4p.T430M
Missense
SNP
0.467
2--
STAU2-
-
-
-
3Gain-
STC1-
-
-
-
3Gain-
STEAP1-
-
-
-
3Gain-
STEAP1B-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP4p.M238T
Missense
SNP
0.519
3Gain-
STK17A-
-
-
-
3Gain-
STK19-
-
-
-
1Loss-
STK3-
-
-
-
3Gain-
STK31-
-
-
-
3Gain-
STMN2-
-
-
-
3Gain-
STMN4-
-
-
-
3Gain-
STRIP2-
-
-
-
3Gain-
STX1A-
-
-
-
3Gain-
STYXL1-
-
-
-
3Gain-
SUCOp.R1033M
Missense
SNP
0.470
2--
SUGCT-
-
-
-
3Gain-
SUGP2p.A826V
Missense
SNP
0.470
2--
SULF1-
-
-
-
3Gain-
SULT1E1p.R77*
Nonsense
SNP
0.533
2--
SUMF2-
-
-
-
3Gain-
SUN1-
-
-
-
3Gain-
SUN3-
-
-
-
3Gain-
SUPT6Hp.R904W
p.I1377V
Missense
Missense
SNP
SNP
0.548
0.488
2--
SWT1p.T599S
Missense
SNP
0.444
2--
SYBU-
-
-
-
3Gain-
SYCE1p.A2T
Missense
SNP
0.192
2--
SYNE1p.A5425V
Missense
SNP
0.505
2--
SYNJ2-
-
-
-
1Loss-
SYPL1-
-
-
-
3Gain-
SYT3p.V70L
Missense
SNP
0.420
2--
TAC1-
-
-
-
3Gain-
TACC1-
-
-
-
3Gain-
TACC3p.G240E
Missense
SNP
0.493
2--
TAF2-
-
-
-
3Gain-
TAF4Bp.P80S
Missense
SNP
0.485
2--
TAF6-
-
-
-
3Gain-
TAF8p.V208I
Missense
SNP
0.429
2--
TARM1p.R258Q
Missense
SNP
0.486
2--
TAS2R16-
-
-
-
3Gain-
TAS2R38-
-
-
-
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R60-
-
-
-
3Gain-
TAS2R8p.D224N
Missense
SNP
0.433
2--
TATDN1-
-
-
-
3Gain-
TAX1BP1-
-
-
-
3Gain-
TBC1D10Ap.V313A
Missense
SNP
0.428
2--
TBC1D31-
-
-
-
3Gain-
TBC1D4p.L431P
Missense
SNP
0.469
2--
TBC1D9p.V889I
Missense
SNP
0.512
2--
TBC1D9Bp.A1205D
Missense
SNP
0.426
2--
TBCDp.L277R
Missense
SNP
0.485
2--
TBL2p.M96I
Missense
SNP
0.359
3Gain-
TBRG4-
-
-
-
3Gain-
TBX2p.H17N
Missense
SNP
0.462
2--
TBX20-
-
-
-
3Gain-
TBX22p.P346H
Missense
SNP
1.000
NDND-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCEA1-
-
-
-
3Gain-
TCF24-
-
-
-
3Gain-
TCIM-
-
-
-
3Gain-
TDRD15p.Y1735C
Missense
SNP
0.381
2--
TDRD6p.Q790P
Missense
SNP
0.563
2--
TDRP-
-
-
-
3Gain-
TECPR1p.P184H
Missense
SNP
0.438
3Gain-
TEDDM1p.M74V
Missense
SNP
0.470
2--
TEFMp.R178Q
Missense
SNP
0.549
2--
TEKT1p.A204T
Missense
SNP
0.400
2--
TERF1-
-
-
-
3Gain-
TES-
-
-
-
3Gain-
TEX15-
-
-
-
3Gain-
TEX47-
-
-
-
3Gain-
TFEC-
-
-
-
3Gain-
TFPIp.V292R
Missense
DNP
0.500
2--
TFPI2-
-
-
-
3Gain-
TFR2-
-
-
-
3Gain-
TG-
-
-
-
3Gain-
TGS1-
-
-
-
3Gain-
THp.P320H
Missense
SNP
0.375
2--
THAP1-
-
-
-
3Gain-
THAP5-
-
-
-
3Gain-
THEM6-
-
-
-
3Gain-
THSD7A-
-
-
-
3Gain-
TIGD5-
-
-
-
3Gain-
TIMM10p.L59M
Missense
SNP
0.581
2--
TJAP1p.R159M
Missense
SNP
0.447
2--
TLE6p.S343F
Missense
SNP
0.545
2--
TLL2p.G947S
Missense
SNP
0.532
2--
TLR4p.G410C
Missense
SNP
0.457
2--
TM2D2-
-
-
-
3Gain-
TMED4-
-
-
-
3Gain-
TMEM106B-
-
-
-
3Gain-
TMEM120A-
-
-
-
3Gain-
TMEM130-
-
-
-
3Gain-
TMEM139-
-
-
-
3Gain-
TMEM168-
-
-
-
3Gain-
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM184A-
-
-
-
3Gain-
TMEM187p.A128V
Missense
SNP
1.000
NDND-
TMEM196-
-
-
-
3Gain-
TMEM200Cp.K535N
Missense
SNP
0.446
2--
TMEM209-
-
-
-
3Gain-
TMEM225B-
-
-
-
3Gain-
TMEM229A-
-
-
-
3Gain-
TMEM243-
-
-
-
3Gain-
TMEM248-
-
-
-
3Gain-
TMEM249-
-
-
-
3Gain-
TMEM260p.N506D
Missense
SNP
0.687
2--
TMEM270-
-
-
-
3Gain-
TMEM60-
-
-
-
3Gain-
TMEM64-
-
-
-
3Gain-
TMEM65-
-
-
-
3Gain-
TMEM67-
-
-
-
3Gain-
TMEM68-
-
-
-
3Gain-
TMEM70-
-
-
-
3Gain-
TMEM71-
-
-
-
3Gain-
TMEM74-
-
-
-
3Gain-
TMEM87Ap.K50E
Missense
SNP
0.265
2--
TMIGD1p.W155R
Missense
SNP
0.473
2--
TMUB1-
-
-
-
3Gain-
TNFRSF10A-
-
-
-
3Gain-
TNFRSF10B-
-
-
-
3Gain-
TNFRSF10C-
-
-
-
3Gain-
TNFRSF10D-
-
-
-
3Gain-
TNFRSF11B-
-
-
-
3Gain-
TNK1p.R207C
Missense
SNP
0.486
2--
TNKS-
-
-
-
3Gain-
TNPO3-
-
-
-
3Gain-
TNRC18-
-
-
-
3Gain-
TNS3-
-
-
-
3Gain-
TNXB-
-
-
-
1Loss-
TOB2p.A171T
Missense
SNP
0.429
2--
TOMM7-
-
-
-
3Gain-
TONSL-
-
-
-
3Gain-
TOP1MT-
-
-
-
3Gain-
TOX-
-
-
-
3Gain-
TP53INP1-
-
-
-
3Gain-
TPCN1p.G831V
Missense
SNP
0.454
2--
TPD52-
-
-
-
3Gain-
TPK1-
-
-
-
3Gain-
TPRp.E2289K
Missense
SNP
0.328
2--
TPST1-
-
-
-
3Gain-
TRA2A-
-
-
-
3Gain-
TRADDp.R271C
Missense
SNP
0.531
2--
TRAM1-
-
-
-
3Gain-
TRANK1p.G1269R
Missense
SNP
0.464
2--
TRAPPC9-
-
-
-
3Gain-
TRHR-
-
-
-
3Gain-
TRIB1-
-
-
-
3Gain-
TRIL-
-
-
-
3Gain-
TRIM28p.R487*
Nonsense
SNP
0.475
2--
TRIM3p.R433C
Missense
SNP
0.524
2--
TRIM31p.F51L
Missense
SNP
0.453
2--
TRIM35-
-
-
-
3Gain-
TRIM4-
-
-
-
3Gain-
TRIM50-
-
-
-
3Gain-
TRIM55-
-
-
-
3Gain-
TRIM56-
-
-
-
3Gain-
TRIM72p.R166C
Missense
SNP
0.388
2--
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIM9p.A265D
Missense
SNP
0.393
2--
TRIOBP-
-
-
-
3Gain-
TRIP6-
-
-
-
3Gain-
TRIQK-
-
-
-
3Gain-
TRMT12-
-
-
-
3Gain-
TRMT9B-
-
-
-
3Gain-
TRPA1-
-
-
-
3Gain-
TRPM8p.L970M
Missense
SNP
0.424
2--
TRPS1p.R334W
Missense
SNP
0.102
3Gain-
TRPV5-
-
-
-
3Gain-
TRPV6-
-
-
-
3Gain-
TRRAP-
-
-
-
3Gain-
TSC22D4p.L100M
Missense
SNP
0.477
3Gain-
TSGA13-
-
-
-
3Gain-
TSKUp.L207M
Missense
SNP
0.458
2--
TSNARE1-
-
-
-
3Gain-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN33-
-
-
-
3Gain-
TSPOAP1p.P792A
Missense
SNP
0.474
2--
TSPYL5p.L309F
Missense
SNP
0.282
3Gain-
TSSK1Bp.A93V
Missense
SNP
0.490
2--
TSTA3-
-
-
-
3Gain-
TTC12p.Q34*
Nonsense
SNP
0.466
2--
TTC13p.K649N
Missense
SNP
0.510
2--
TTC3p.S1453I
Missense
SNP
0.339
2--
TTC6p.E298*
Nonsense
SNP
0.461
2--
TTI2-
-
-
-
3Gain-
TTNp.D20968G
p.E9880K
Missense
Missense
SNP
SNP
0.520
0.600
2--
TTPA-
-
-
-
3Gain-
TTYH2p.T33A
Missense
SNP
0.391
2--
TTYH3-
-
-
-
3Gain-
TUBA3Ep.V14I
Missense
SNP
0.442
2--
TUBG1p.L85F
Missense
SNP
0.500
2--
TULP4-
-
-
-
1LossSNX9--TULP4
TUSC3p.R117C
Missense
SNP
0.343
3Gain-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TXNL1p.R202Q
Missense
SNP
0.411
2--
TXNL4A-
-
-
-
1Loss-
TYW1-
-
-
-
3Gain-
TYW1B-
-
-
-
3Gain-
UBE2D4-
-
-
-
3Gain-
UBE2H-
-
-
-
3Gain-
UBE2V2-
-
-
-
3Gain-
UBE2W-
-
-
-
3Gain-
UBE4Ap.A809V
Missense
SNP
0.570
2--
UBN2p.R464H
Missense
SNP
0.567
2--
UBR4p.V3599L
Missense
SNP
0.576
2--
UBR5-
-
-
-
3Gain-
UBXN2B-
-
-
-
3Gain-
UBXN8-
-
-
-
3Gain-
UCP1p.A20S
Missense
SNP
0.415
2--
UFSP1-
-
-
-
3Gain-
UGT2A1-
-
-
-
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2A3-
-
-
-
1Loss-
UGT2B10-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15-
-
-
-
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4-
-
-
-
1Loss-
UGT2B7-
-
-
-
1Loss-
UMAD1-
-
-
-
3Gain-
UNC13Ap.X256_splice
Splice_Site
SNP
0.545
2--
UNC5D-
-
-
-
3Gain-
UNCX-
-
-
-
3Gain-
UPK3B-
-
-
-
3Gain-
UPK3BL1-
-
-
-
3Gain-
UPP1p.A266T
Missense
SNP
0.488
3Gain-
UQCRB-
-
-
-
3Gain-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
USH2Ap.T4010A
p.R3545W
Missense
Missense
SNP
SNP
0.429
0.435
2--
USP17L1-
-
-
-
1Loss-
USP17L3-
-
-
-
3Gain-
USP17L4-
-
-
-
1Loss-
USP17L7-
-
-
-
3Gain-
USP17L8-
-
-
-
1Loss-
USP28p.A333V
Missense
SNP
0.464
2--
USP42-
-
-
-
3Gain-
USP54p.D394N
Missense
SNP
0.500
2--
USP6p.Y716C
Missense
SNP
0.490
2--
UTF1p.E253K
Missense
SNP
0.300
2--
UTP23-
-
-
-
3Gain-
VCPIP1-
-
-
-
3Gain-
VDAC3-
-
-
-
3Gain-
VGF-
-
-
-
3Gain-
VIRMA-
-
-
-
3Gain-
VKORC1L1-
-
-
-
3Gain-
VOPP1-
-
-
-
3Gain-
VPS13B-
-
-
-
3Gain-
VPS28-
-
-
-
3Gain-
VPS37A-
-
-
-
3Gain-
VPS37D-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS45p.Y129C
Missense
SNP
0.565
2--
VPS50-
-
-
-
3Gain-
VSTM2A-
-
-
-
3Gain-
VWA2p.A689V
Missense
SNP
0.504
2--
VWA3Bp.S1165P
Missense
SNP
0.625
2--
VWC2-
-
-
-
3Gain-
VWDE-
-
-
-
3Gain-
VXN-
-
-
-
3Gain-
WASHC5-
-
-
-
3Gain-
WASL-
-
-
-
3Gain-
WBP11p.R86C
Missense
SNP
0.388
2--
WDR35p.R831H
Missense
SNP
0.466
2--
WDR64p.I920S
Missense
SNP
0.440
2--
WDR86-
-
-
-
3Gain-
WDR93p.R397Q
Missense
SNP
0.461
2--
WDR97-
-
-
-
3Gain-
WDYHV1-
-
-
-
3Gain-
WIF1p.L18I
Missense
SNP
0.557
2--
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WISP1-
-
-
-
3Gain-
WNK4p.R511C
Missense
SNP
0.456
2--
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WRN-
-
-
-
3Gain-
WWP1-
-
-
-
3Gain-
XIRP1p.G773E
Missense
SNP
0.400
2--
XKR4-
-
-
-
3Gain-
XKR5-
-
-
-
3Gain-
XKR6-
-
-
-
3Gain-
XKR9-
-
-
-
3Gain-
XPO1p.A854V
Missense
SNP
0.431
2--
XPO6p.E816K
Missense
SNP
0.476
2--
XPO7-
-
-
-
3Gain-
XRCC2-
-
-
-
3Gain-
YAE1-
-
-
-
3Gain-
YKT6-
-
-
-
3Gain-
YTHDF3-
-
-
-
3Gain-
YWHAG-
-
-
-
3Gain-
YWHAZ-
-
-
-
3Gain-
Z83844.1-
-
-
-
3Gain-
Z83844.3-
-
-
-
3Gain-
ZANp.R143C
Missense
SNP
0.579
3Gain-
ZBED6CL-
-
-
-
3Gain-
ZBTB10-
-
-
-
3Gain-
ZBTB14p.S287Y
Missense
SNP
0.476
2--
ZBTB16p.Q93K
Missense
SNP
0.522
2--
ZBTB24p.V262I
Missense
SNP
0.526
2--
ZC2HC1A-
-
-
-
3Gain-
ZC3H3-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC5p.S432I
Missense
SNP
1.000
NDND-
ZCWPW1-
-
-
-
3Gain-
ZDHHC2-
-
-
-
3Gain-
ZDHHC4-
-
-
-
3Gain-
ZEB2p.G121R
Missense
SNP
0.408
2--
ZFAND1-
-
-
-
3Gain-
ZFAND2A-
-
-
-
3Gain-
ZFAT-
-
-
-
3Gain-
ZFHX3p.P184H
Missense
SNP
0.496
2--
ZFHX4-
-
-
-
3Gain-
ZFP41-
-
-
-
3Gain-
ZFPM2p.E59*
Nonsense
SNP
0.354
3Gain-
ZFYVE28p.D41Y
Missense
SNP
0.586
2--
ZHX1-
-
-
-
3Gain-
ZHX1-C8orf76-
-
-
-
3Gain-
ZHX2-
-
-
-
3Gain-
ZKSCAN1-
-
-
-
3Gain-
ZKSCAN5-
-
-
-
3Gain-
ZMAT4-
-
-
-
3Gain-
ZMIZ2-
-
-
-
3Gain-
ZMYM6p.A1001V
Missense
SNP
0.463
2--
ZMYND11p.L108F
Missense
SNP
0.404
2--
ZMYND15p.R431C
Missense
SNP
0.135
2--
ZNF107-
-
-
-
3Gain-
ZNF117-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF138-
-
-
-
3Gain-
ZNF16-
-
-
-
3Gain-
ZNF212-
-
-
-
3Gain-
ZNF250-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF273-
-
-
-
3Gain-
ZNF277-
-
-
-
3Gain-
ZNF282-
-
-
-
3Gain-
ZNF3-
-
-
-
3Gain-
ZNF316-
-
-
-
3Gain-
ZNF317p.C311Y
Missense
SNP
0.476
2--
ZNF324p.A183V
Missense
SNP
0.421
2--
ZNF335p.R284C
Missense
SNP
0.497
2--
ZNF34-
-
-
-
3Gain-
ZNF394-
-
-
-
3Gain-
ZNF395-
-
-
-
3Gain-
ZNF398-
-
-
-
3Gain-
ZNF407p.V956I
Missense
SNP
0.476
2--
ZNF419p.L73M
Missense
SNP
0.552
2--
ZNF423p.L1146R
Missense
SNP
0.458
2--
ZNF425-
-
-
-
3Gain-
ZNF430p.I281L
Missense
SNP
0.494
2--
ZNF461p.P412L
Missense
SNP
0.432
2--
ZNF467-
-
-
-
3Gain-
ZNF479-
-
-
-
3Gain-
ZNF517-
-
-
-
3Gain-
ZNF550p.R104W
Missense
SNP
0.506
2--
ZNF552p.Q391R
Missense
SNP
0.476
2--
ZNF572-
-
-
-
3Gain-
ZNF582p.T446I
Missense
SNP
0.391
2--
ZNF592p.S578N
Missense
SNP
0.458
2--
ZNF596-
-
-
-
3Gain-
ZNF610p.T416A
Missense
SNP
0.131
2--
ZNF623-
-
-
-
3Gain-
ZNF655-
-
-
-
3Gain-
ZNF676p.D61H
Missense
SNP
0.460
2--
ZNF679-
-
-
-
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF696p.G271S
Missense
SNP
0.660
3Gain-
ZNF7-
-
-
-
3Gain-
ZNF703-
-
-
-
3Gain-
ZNF704-
-
-
-
3Gain-
ZNF706-
-
-
-
3Gain-
ZNF707-
-
-
-
3Gain-
ZNF713-
-
-
-
3Gain-
ZNF716-
-
-
-
3Gain-
ZNF727-
-
-
-
3Gain-
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF74p.V50L
Missense
SNP
0.437
2--
ZNF746-
-
-
-
3Gain-
ZNF761p.G388C
Missense
SNP
0.469
2--
ZNF775-
-
-
-
3Gain-
ZNF777-
-
-
-
3Gain-
ZNF780Bp.E114D
Missense
SNP
0.500
2--
ZNF783-
-
-
-
3Gain-
ZNF786-
-
-
-
3Gain-
ZNF789-
-
-
-
3Gain-
ZNF800-
-
-
-
3Gain-
ZNF804B-
-
-
-
3Gain-
ZNF853-
-
-
-
3Gain-
ZNF862-
-
-
-
3Gain-
ZNF92-
-
-
-
3Gain-
ZNHIT1-
-
-
-
3Gain-
ZNRD1p.D84G
Missense
SNP
0.506
2--
ZNRF2-
-
-
-
3Gain-
ZNRF3p.L37P
p.L297P
Missense
Missense
SNP
SNP
0.500
0.494
2--
ZP3-
-
-
-
3Gain-
ZPBP-
-
-
-
3Gain-
ZSCAN21-
-
-
-
3Gain-
ZSCAN22p.K327T
Missense
SNP
0.486
2--
ZSCAN25-
-
-
-
3Gain-
ZYX-
-
-
-
3Gain-