PDMR-474377~126-R~FFY-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AACSp.R75H
Missense
SNP
0.492
2-ND
AAK1-
-
-
-
3GainND
AAMP-
-
-
-
3GainND
ABCA12-
-
-
-
3GainND
ABCB10-
-
-
-
3GainND
ABCB11-
-
-
-
3GainND
ABCB6-
-
-
-
3GainND
ABCG5-
-
-
-
3GainND
ABCG8-
-
-
-
3GainND
ABHD1-
-
-
-
3GainND
ABHD16Bp.A56T
Missense
SNP
0.542
2-ND
ABI2-
-
-
-
3GainND
ABL2-
-
-
-
3GainND
AC005041.1-
-
-
-
3GainND
AC006030.1-
-
-
-
3GainND
AC007040.2-
-
-
-
3GainND
AC007240.1-
-
-
-
3GainND
AC008073.3-
-
-
-
3GainND
AC011330.3-
-
-
-
3GainND
AC013717.1-
-
-
-
3GainND
AC017083.3-
-
-
-
3GainND
AC068547.1-
-
-
-
3GainND
AC068946.1-
-
-
-
3GainND
AC068946.2-
-
-
-
3GainND
AC073082.1-
-
-
-
3GainND
AC073283.3-
-
-
-
3GainND
AC079447.1-
-
-
-
3GainND
AC092017.3-
-
-
-
3GainND
AC092587.1-
-
-
-
3GainND
AC092835.1-
-
-
-
3GainND
AC093668.1-
-
-
-
1LossND
AC093668.2-
-
-
-
1LossND
AC093668.3-
-
-
-
1LossND
AC105052.1-
-
-
-
1LossND
AC105052.3-
-
-
-
1LossND
AC108488.2-
-
-
-
3GainND
AC112229.3-
-
-
-
3GainND
AC118470.1-
-
-
-
3GainND
AC131097.2-
-
-
-
3GainND
AC239799.1-
-
-
-
3GainND
AC243547.3-
-
-
-
3GainND
ACADL-
-
-
-
3GainND
ACBD3-
-
-
-
3GainND
ACBD6-
-
-
-
3GainND
ACKR1-
-
-
-
3GainND
ACKR3-
-
-
-
3GainND
ACMSD-
-
-
-
3GainND
ACOX3p.R480S
Missense
SNP
0.413
2-ND
ACOXL-
-
-
-
3GainND
ACP1-
-
-
-
3GainND
ACP6-
-
-
-
3GainND
ACSL3-
-
-
-
3GainND
ACSS1-
-
-
-
1LossND
ACTA1-
-
-
-
3GainND
ACTBp.P27T
Missense
SNP
0.517
2-ND
ACTG2-
-
-
-
3GainND
ACTN2-
-
-
-
3GainND
ACTR1B-
-
-
-
3GainND
ACTR2-
-
-
-
3GainND
ACTR3-
-
-
-
3GainND
ACVR1-
-
-
-
3GainND
ACVR1C-
-
-
-
3GainND
ACVR2A-
-
-
-
3GainND
ACYP2-
-
-
-
3GainND
ADAM15-
-
-
-
3GainND
ADAM17-
-
-
-
3GainND
ADAM23-
-
-
-
3GainND
ADAM7p.P438S
Missense
SNP
0.453
2-ND
ADAMTS1-
-
-
-
1LossND
ADAMTS4-
-
-
-
3GainND
ADAMTS5-
-
-
-
1LossND
ADAMTSL4-
-
-
-
3GainND
ADAR-
-
-
-
3GainND
ADARB2p.R254Q
Missense
SNP
0.444
2-ND
ADCY10-
-
-
-
3GainND
ADCY3-
-
-
-
3GainND
ADD2-
-
-
-
3GainND
ADGRF3-
-
-
-
3GainND
ADI1-
-
-
-
3GainND
ADIPOR1-
-
-
-
3GainND
ADORA1-
-
-
-
3GainND
ADRA1Ap.P327S
Missense
SNP
0.463
2-ND
ADRA2B-
-
-
-
3GainND
ADSS-
-
-
-
3GainND
AFF3-
-
-
-
3GainND
AFTPH-
-
-
-
3GainND
AGAP1-
-
-
-
3GainND
AGBL5-
-
-
-
3GainND
AGFG1-
-
-
-
3GainND
AGT-
-
-
-
3GainND
AGXT-
-
-
-
3GainND
AHCTF1-
-
-
-
3GainND
AIDA-
-
-
-
3GainND
AIM2-
-
-
-
3GainND
AKT3-
-
-
-
3GainND
AL117348.2-
-
-
-
3GainND
AL139011.2-
-
-
-
3GainND
AL139142.2-
-
-
-
3GainND
AL358472.6-
-
-
-
3GainND
AL358472.7-
-
-
-
3GainND
AL445238.1-
-
-
-
3GainND
AL445989.1-
-
-
-
3GainND
AL512785.2-
-
-
-
3GainND
AL590132.1-
-
-
-
3GainND
AL591806.3-
-
-
-
3GainND
AL691442.1-
-
-
-
3GainND
AL713999.1-
-
-
-
3GainND
AL845331.2-
-
-
-
3GainND
ALDH9A1-
-
-
-
3GainND
ALK-
-
-
-
3GainND
ALKAL2-
-
-
-
3GainND
ALLC-
-
-
-
3GainND
ALMS1-
-
-
-
3GainND
ALPG-
-
-
-
3GainND
ALPI-
-
-
-
3GainND
ALPP-
-
-
-
3GainND
ALS2-
-
-
-
3GainND
ALS2CR12-
-
-
-
3GainND
AMER3-
-
-
-
3GainND
AMMECR1L-
-
-
-
3GainND
ANAPC1-
-
-
-
3GainND
ANGEL2-
-
-
-
3GainND
ANGPTL1-
-
-
-
3GainND
ANKAR-
-
-
-
3GainND
ANKMY1-
-
-
-
3GainND
ANKRD23-
-
-
-
3GainND
ANKRD26p.A407V
Missense
SNP
0.391
2-ND
ANKRD30BL-
-
-
-
3GainND
ANKRD34A-
-
-
-
3GainND
ANKRD35-
-
-
-
3GainND
ANKRD36-
-
-
-
3GainND
ANKRD36B-
-
-
-
3GainND
ANKRD36C-
-
-
-
3GainND
ANKRD39-
-
-
-
3GainND
ANKRD42p.M114T
Missense
SNP
0.505
2-ND
ANKRD44-
-
-
-
3GainND
ANKRD45-
-
-
-
3GainND
ANKRD53p.S57I
Missense
SNP
0.716
3GainND
ANKRD65p.R62L
Missense
SNP
0.583
2-ND
ANKZF1-
-
-
-
3GainND
ANO7-
-
-
-
3GainND
ANP32E-
-
-
-
3GainND
ANTXR1-
-
-
-
3GainND
ANTXRLp.T101I
p.P146S
Missense
Missense
SNP
SNP
0.478
0.421
2-ND
ANXA4-
-
-
-
3GainND
ANXA9-
-
-
-
3GainND
AOX1-
-
-
-
3GainND
AP002962.1p.M262V
Missense
SNP
0.603
NDNDND
AP1S3-
-
-
-
3GainND
AP4E1p.P643L
Missense
SNP
0.437
2-ND
APCS-
-
-
-
3GainND
APH1A-
-
-
-
3GainND
APLF-
-
-
-
3GainND
APMAP-
-
-
-
1LossND
APOA2-
-
-
-
3GainND
APOB-
-
-
-
3GainND
APOBEC4-
-
-
-
3GainND
APP-
-
-
-
1LossND
AQP10-
-
-
-
3GainND
AQP12A-
-
-
-
3GainND
AQP12B-
-
-
-
3GainND
AREL1p.C770F
Missense
SNP
0.474
2-ND
ARF1-
-
-
-
3GainND
ARF4p.A28T
Missense
SNP
0.433
2-ND
ARGFXp.L149F
Missense
SNP
0.494
2-ND
ARHGAP15-
-
-
-
3GainND
ARHGAP25-
-
-
-
3GainND
ARHGAP27p.R195H
Missense
SNP
0.484
2-ND
ARHGAP30-
-
-
-
3GainND
ARHGAP31p.S1184P
Missense
SNP
0.497
2-ND
ARHGEF11-
-
-
-
3GainND
ARHGEF2-
-
-
-
3GainND
ARHGEF33-
-
-
-
3GainND
ARHGEF4-
-
-
-
3GainND
ARHGEF5-
-
-
-
1LossND
ARID4Ap.A3V
Missense
SNP
0.459
2-ND
ARID4B-
-
-
-
3GainND
ARID5A-
-
-
-
3GainND
ARL4Cp.A115S
Missense
SNP
0.288
3GainND
ARL5A-
-
-
-
3GainND
ARL6IP6-
-
-
-
3GainND
ARL8A-
-
-
-
3GainND
ARMC9-
-
-
-
3GainND
ARMCX4p.D1652G
Missense
SNP
0.486
NDNDND
ARNT-
-
-
-
3GainND
ARPC2-
-
-
-
3GainND
ARPC5-
-
-
-
3GainND
ARV1-
-
-
-
3GainND
ARXp.A73T
Missense
SNP
0.630
NDNDND
ASAP2-
-
-
-
3GainND
ASB1-
-
-
-
3GainND
ASB18-
-
-
-
3GainND
ASB3-
-
-
-
3GainND
ASH1L-
-
-
-
3GainND
ASIC4-
-
-
-
3GainND
ASNSD1-
-
-
-
3GainND
ASPM-
-
-
-
3GainND
ASPRV1-
-
-
-
3GainND
ASTL-
-
-
-
3GainND
ASTN1-
-
-
-
3GainND
ASXL2p.V50A
Missense
SNP
0.312
3GainND
ATAD2B-
-
-
-
3GainND
ATAD3A-
-
-
-
1LossND
ATAD3B-
-
-
-
1LossND
ATAD3C-
-
-
-
1LossND
ATF3-
-
-
-
3GainND
ATF6-
-
-
-
3GainND
ATG16L1-
-
-
-
3GainND
ATG4B-
-
-
-
3GainND
ATG9A-
-
-
-
3GainND
ATIC-
-
-
-
3GainND
ATL2-
-
-
-
3GainND
ATOH8-
-
-
-
3GainND
ATP13A2p.A472T
Missense
SNP
0.480
2-ND
ATP1A2-
-
-
-
3GainND
ATP1A4-
-
-
-
3GainND
ATP1B1-
-
-
-
3GainND
ATP2B3p.H1071P
Missense
SNP
0.511
NDNDND
ATP2B4-
-
-
-
3GainND
ATP5PF-
-
-
-
1LossND
ATP6V1B1-
-
-
-
3GainND
ATP6V1C2-
-
-
-
3GainND
ATP6V1E2-
-
-
-
3GainND
ATP6V1G3-
-
-
-
3GainND
ATP8A2p.R216C
Missense
SNP
0.420
2-ND
ATP8B2-
-
-
-
3GainND
ATRAID-
-
-
-
3GainND
ATRIP-
-
-
-
1LossND
ATXN3p.R59H
Missense
SNP
0.485
2-ND
AUP1-
-
-
-
3GainND
AVPR1B-
-
-
-
3GainND
AXDND1-
-
-
-
3GainND
B3GALNT2-
-
-
-
3GainND
B3GALT1-
-
-
-
3GainND
B3GALT2-
-
-
-
3GainND
B3GNT2-
-
-
-
3GainND
B3GNT7-
-
-
-
3GainND
B4GALT3-
-
-
-
3GainND
BABAM2-
-
-
-
3GainND
BACH1-
-
-
-
1LossND
BARD1-
-
-
-
3GainND
BATF3-
-
-
-
3GainND
BAZ2B-
-
-
-
3GainND
BCAN-
-
-
-
3GainND
BCL11A-
-
-
-
3GainND
BCL2L11-
-
-
-
3GainND
BCL9-
-
-
-
3GainND
BCS1L-
-
-
-
3GainND
BGLAP-
-
-
-
3GainND
BGNp.W121*
Nonsense
SNP
0.509
NDNDND
BIN1-
-
-
-
3GainND
BIRC2p.D320G
Missense
SNP
0.534
2-ND
BIRC3p.A85T
Missense
SNP
0.619
2-ND
BIRC6-
-
-
-
3GainND
BLZF1-
-
-
-
3GainND
BMP10-
-
-
-
3GainND
BMPR2-
-
-
-
3GainND
BNIPL-
-
-
-
3GainND
BOK-
-
-
-
3GainND
BOLA1-
-
-
-
3GainND
BOLA3-
-
-
-
3GainND
BOLL-
-
-
-
3GainND
BPIp.V32I
Missense
SNP
0.457
2-ND
BPNT1-
-
-
-
3GainND
BRINP2-
-
-
-
3GainND
BRINP3-
-
-
-
4GainND
BROX-
-
-
-
3GainND
BTG2-
-
-
-
3GainND
BTG3-
-
-
-
1LossND
BUB1-
-
-
-
3GainND
BZW1-
-
-
-
3GainND
C11orf84p.X106_splice
Splice_Site
SNP
0.442
NDNDND
C15orf61p.R38W
Missense
SNP
0.513
2-ND
C1D-
-
-
-
3GainND
C1GALT1C1L-
-
-
-
3GainND
C1orf100-
-
-
-
3GainND
C1orf105-
-
-
-
3GainND
C1orf112-
-
-
-
3GainND
C1orf115-
-
-
-
3GainND
C1orf116-
-
-
-
3GainND
C1orf131-
-
-
-
3GainND
C1orf189-
-
-
-
3GainND
C1orf198-
-
-
-
3GainND
C1orf21-
-
-
-
3GainND
C1orf226-
-
-
-
3GainND
C1orf35-
-
-
-
3GainND
C1orf43-
-
-
-
3GainND
C1orf53-
-
-
-
3GainND
C1orf54-
-
-
-
3GainND
C1orf56-
-
-
-
3GainND
C1orf61-
-
-
-
3GainND
C1orf64p.A61T
Missense
SNP
0.524
NDNDND
C1orf68-
-
-
-
3GainND
C1orf74-
-
-
-
3GainND
C1QL2-
-
-
-
3GainND
C1Sp.R686H
Missense
SNP
0.558
2-ND
C21orf91-
-
-
-
1LossND
C2CD4D-
-
-
-
3GainND
C2CD6-
-
-
-
3GainND
C2orf15-
-
-
-
3GainND
C2orf16p.T528M
Missense
SNP
0.281
3GainND
C2orf40-
-
-
-
3GainND
C2orf42-
-
-
-
3GainND
C2orf49-
-
-
-
3GainND
C2orf50-
-
-
-
3GainND
C2orf66-
-
-
-
3GainND
C2orf68-
-
-
-
3GainND
C2orf69-
-
-
-
3GainND
C2orf70-
-
-
-
3GainND
C2orf72-
-
-
-
3GainND
C2orf73-
-
-
-
3GainND
C2orf74-
-
-
-
3GainND
C2orf76-
-
-
-
3GainND
C2orf78-
-
-
-
3GainND
C2orf80-
-
-
-
3GainND
C2orf81-
-
-
-
3GainND
C2orf83-
-
-
-
3GainND
C2orf88-
-
-
-
3GainND
C2orf91-
-
-
-
3GainND
C4BPA-
-
-
-
3GainND
C4BPB-
-
-
-
3GainND
C6orf15p.X23_splice
Splice_Site
SNP
0.488
2-ND
CA14-
-
-
-
3GainND
CAB39-
-
-
-
3GainND
CACNA1E-
-
-
-
3GainND
CACNA1Fp.T1840A
Missense
SNP
0.519
NDNDND
CACNA1S-
-
-
-
3GainND
CACNA2D4p.K712N
Missense
SNP
0.596
2-ND
CACNB4-
-
-
-
3GainND
CACYBP-
-
-
-
3GainND
CAD-
-
-
-
3GainND
CADM3-
-
-
-
3GainND
CALCRL-
-
-
-
3GainND
CALM2-
-
-
-
3GainND
CAMK1G-
-
-
-
3GainND
CAMKMT-
-
-
-
3GainND
CAMSAP2-
-
-
-
3GainND
CAPG-
-
-
-
3GainND
CAPN10-
-
-
-
3GainND
CAPN13-
-
-
-
3GainND
CAPN14-
-
-
-
3GainND
CAPN2-
-
-
-
3GainND
CAPN8-
-
-
-
3GainND
CAPN9-
-
-
-
3GainND
CARF-
-
-
-
3GainND
CASC5p.K1651N
Missense
SNP
0.476
NDNDND
CASP10-
-
-
-
3GainND
CASP8-
-
-
-
3GainND
CASQ1-
-
-
-
3GainND
CATIP-
-
-
-
3GainND
CATSPER1p.V492M
Missense
SNP
0.547
2-ND
CATSPER2-
-
-
-
3GainND
CATSPERE-
-
-
-
3GainND
CAVIN2-
-
-
-
3GainND
CBWD2-
-
-
-
3GainND
CCDC115-
-
-
-
3GainND
CCDC121-
-
-
-
3GainND
CCDC138-
-
-
-
3GainND
CCDC140-
-
-
-
3GainND
CCDC142-
-
-
-
3GainND
CCDC148-
-
-
-
3GainND
CCDC150-
-
-
-
3GainND
CCDC170p.A413V
Missense
SNP
0.430
2-ND
CCDC181-
-
-
-
3GainND
CCDC185-
-
-
-
3GainND
CCDC190-
-
-
-
3GainND
CCDC51-
-
-
-
1LossND
CCDC57p.R203W
Missense
SNP
0.518
2-ND
CCDC74A-
-
-
-
3GainND
CCDC74B-
-
-
-
3GainND
CCDC85A-
-
-
-
3GainND
CCDC88A-
-
-
-
3GainND
CCDC88Bp.E812G
Missense
SNP
0.649
2-ND
CCDC93-
-
-
-
3GainND
CCL20-
-
-
-
3GainND
CCNT2-
-
-
-
3GainND
CCNYL1-
-
-
-
3GainND
CCSAP-
-
-
-
3GainND
CCT3-
-
-
-
3GainND
CCT4-
-
-
-
3GainND
CCT7-
-
-
-
3GainND
CCT8-
-
-
-
1LossND
CD160-
-
-
-
3GainND
CD1A-
-
-
-
3GainND
CD1B-
-
-
-
3GainND
CD1C-
-
-
-
3GainND
CD1D-
-
-
-
3GainND
CD1E-
-
-
-
3GainND
CD207-
-
-
-
3GainND
CD244-
-
-
-
3GainND
CD247-
-
-
-
3GainND
CD28-
-
-
-
3GainND
CD302-
-
-
-
3GainND
CD34-
-
-
-
3GainND
CD46-
-
-
-
3GainND
CD48-
-
-
-
3GainND
CD55-
-
-
-
3GainND
CD5L-
-
-
-
3GainND
CD84-
-
-
-
3GainND
CD8A-
-
-
-
3GainND
CD8B-
-
-
-
3GainND
CD8B2-
-
-
-
3GainND
CDC42BPAp.A188T
Missense
SNP
0.289
3GainND
CDC42EP3-
-
-
-
3GainND
CDC42SE1-
-
-
-
3GainND
CDC7p.K207N
Missense
SNP
0.514
2-ND
CDC73-
-
-
-
3GainND
CDK15p.X400_splice
Splice_Site
SNP
0.303
3GainND
CDK18-
-
-
-
3GainND
CDK5R2-
-
-
-
3GainND
CDKL4-
-
-
-
3GainND
CDO1p.A35V
Missense
SNP
0.470
2-ND
CDONp.P3L
Missense
SNP
0.469
2-ND
CDR2p.C149Y
Missense
SNP
0.540
2-ND
CEBPZ-
-
-
-
3GainND
CEBPZOS-
-
-
-
3GainND
CECR2p.S863L
Missense
SNP
0.465
2-ND
CELF3-
-
-
-
3GainND
CELSR3p.R426H
Missense
SNP
0.368
2-ND
CENPA-
-
-
-
3GainND
CENPF-
-
-
-
3GainND
CENPL-
-
-
-
3GainND
CENPO-
-
-
-
3GainND
CEP170-
-
-
-
3GainND
CEP350-
-
-
-
3GainND
CEP68-
-
-
-
3GainND
CERS2-
-
-
-
3GainND
CERS6-
-
-
-
3GainND
CFAP126-
-
-
-
3GainND
CFAP221-
-
-
-
3GainND
CFAP36-
-
-
-
3GainND
CFAP45-
-
-
-
3GainND
CFAP65-
-
-
-
3GainND
CFC1-
-
-
-
3GainND
CFC1B-
-
-
-
3GainND
CFH-
-
-
-
3GainND
CFHR1-
-
-
-
3GainND
CFHR2-
-
-
-
3GainND
CFHR3-
-
-
-
3GainND
CFHR4-
-
-
-
3GainND
CFHR5-
-
-
-
3GainND
CFLAR-
-
-
-
3GainND
CGN-
-
-
-
3GainND
CGREF1-
-
-
-
3GainND
CHAC2-
-
-
-
3GainND
CHCHD5-
-
-
-
3GainND
CHD1L-
-
-
-
3GainND
CHI3L1-
-
-
-
3GainND
CHIT1-
-
-
-
3GainND
CHML-
-
-
-
3GainND
CHMP3-
-
-
-
3GainND
CHODL-
-
-
-
1LossND
CHPF-
-
-
-
3GainND
CHRM3-
-
-
-
3GainND
CHRNA10p.I317V
Missense
SNP
0.484
2-ND
CHRNB2-
-
-
-
3GainND
CHRND-
-
-
-
3GainND
CHRNG-
-
-
-
3GainND
CHST1p.R361H
Missense
SNP
0.460
2-ND
CHST10-
-
-
-
3GainND
CHST7p.R99H
Missense
SNP
0.467
NDNDND
CHTOP-
-
-
-
3GainND
CIAO1-
-
-
-
3GainND
CIART-
-
-
-
3GainND
CIB4-
-
-
-
3GainND
CKAP2L-
-
-
-
3GainND
CKMT1A-
-
-
-
3GainND
CKMT1B-
-
-
-
3GainND
CKS1B-
-
-
-
3GainND
CLASP1-
-
-
-
3GainND
CLDN17-
-
-
-
1LossND
CLDN8-
-
-
-
1LossND
CLEC4F-
-
-
-
3GainND
CLGNp.E99A
Missense
SNP
0.675
2-ND
CLHC1-
-
-
-
3GainND
CLIP4-
-
-
-
3GainND
CLK1-
-
-
-
3GainND
CLK2-
-
-
-
3GainND
CLMNp.S877*
Nonsense
SNP
0.430
2-ND
CLUHp.T83M
Missense
SNP
0.475
2-ND
CMPK2-
-
-
-
3GainND
CNGA3-
-
-
-
3GainND
CNGB3p.Q440H
Missense
SNP
0.395
2-ND
CNIH3-
-
-
-
3GainND
CNIH4-
-
-
-
3GainND
CNNM3-
-
-
-
3GainND
CNNM4-
-
-
-
3GainND
CNOT11-
-
-
-
3GainND
CNOT9-
-
-
-
3GainND
CNPPD1-
-
-
-
3GainND
CNRIP1-
-
-
-
3GainND
CNST-
-
-
-
3GainND
CNTN2-
-
-
-
3GainND
CNTNAP2-
-
-
-
3GainND
CNTNAP5-
-
-
-
3GainND
COA5-
-
-
-
3GainND
COA6-
-
-
-
3GainND
COBLL1-
-
-
-
3GainND
COG2-
-
-
-
3GainND
COG8p.A417D
Missense
SNP
0.476
2-ND
COL3A1-
-
-
-
3GainND
COL4A3-
-
-
-
3GainND
COL4A4-
-
-
-
3GainND
COL5A2-
-
-
-
3GainND
COL6A3-
-
-
-
3GainND
COL6A6p.V1231M
p.P1959H
Missense
Missense
SNP
SNP
0.448
0.488
2-ND
COLEC11-
-
-
-
3GainND
COLGALT2-
-
-
-
3GainND
COMMD1-
-
-
-
3GainND
COP1-
-
-
-
3GainND
COPA-
-
-
-
3GainND
COPS7B-
-
-
-
3GainND
COPS8-
-
-
-
3GainND
COPS9-
-
-
-
3GainND
COQ10B-
-
-
-
3GainND
COQ8A-
-
-
-
3GainND
CORO1Bp.S38I
Missense
SNP
0.459
2-ND
COX20-
-
-
-
3GainND
COX5B-
-
-
-
3GainND
COX7A2L-
-
-
-
3GainND
CPO-
-
-
-
3GainND
CPS1-
-
-
-
3GainND
CPSF3-
-
-
-
3GainND
CR1-
-
-
-
3GainND
CR1L-
-
-
-
3GainND
CR2-
-
-
-
3GainND
CRABP2-
-
-
-
3GainND
CRB1-
-
-
-
3GainND
CRCT1-
-
-
-
3GainND
CREB1-
-
-
-
3GainND
CREB3L4-
-
-
-
3GainND
CREG1-
-
-
-
3GainND
CREG2-
-
-
-
3GainND
CRIM1-
-
-
-
3GainND
CRIPT-
-
-
-
3GainND
CRNN-
-
-
-
3GainND
CROCC2-
-
-
-
3GainND
CRP-
-
-
-
3GainND
CRTC2-
-
-
-
3GainND
CRYBA2-
-
-
-
3GainND
CRYGA-
-
-
-
3GainND
CRYGB-
-
-
-
3GainND
CRYGC-
-
-
-
3GainND
CRYGD-
-
-
-
3GainND
CSPG4p.R1034Q
Missense
SNP
0.462
2-ND
CSRNP3-
-
-
-
3GainND
CSRP1-
-
-
-
3GainND
CST7-
-
-
-
1LossND
CTAGE4-
-
-
-
1LossND
CTAGE8-
-
-
-
1LossND
CTDSP1-
-
-
-
3GainND
CTLA4-
-
-
-
3GainND
CTNNA2-
-
-
-
3GainND
CTSE-
-
-
-
3GainND
CTSK-
-
-
-
3GainND
CTSS-
-
-
-
3GainND
CUL3-
-
-
-
3GainND
CXADR-
-
-
-
1LossND
CXCL12p.G101D
Missense
SNP
0.377
2-ND
CXCL2p.I75T
Missense
SNP
0.505
2-ND
CXCR1-
-
-
-
3GainND
CXCR2-
-
-
-
3GainND
CXCR4-
-
-
-
3GainND
CXorf66p.N351H
Missense
SNP
0.595
NDNDND
CYB5R1-
-
-
-
3GainND
CYP1B1-
-
-
-
3GainND
CYP20A1-
-
-
-
3GainND
CYP26B1-
-
-
-
3GainND
CYP27A1-
-
-
-
3GainND
CYP27C1-
-
-
-
3GainND
CYS1-
-
-
-
3GainND
CYTIP-
-
-
-
3GainND
CYYR1-
-
-
-
1LossND
D2HGDH-
-
-
-
3GainND
DACH1-
-
-
-
3GainND
DAP3-
-
-
-
3GainND
DAPL1-
-
-
-
3GainND
DARS-
-
-
-
3GainND
DARS2-
-
-
-
3GainND
DAW1-
-
-
-
3GainND
DBI-
-
-
-
3GainND
DCAF6-
-
-
-
3GainND
DCAF8-
-
-
-
3GainND
DCDC2C-
-
-
-
3GainND
DCLK1p.A680T
Missense
SNP
0.493
2-ND
DCST1-
-
-
-
3GainND
DCST2-
-
-
-
3GainND
DCTN1-
-
-
-
3GainND
DDR2-
-
-
-
3GainND
DDX1-
-
-
-
3GainND
DDX18-
-
-
-
3GainND
DDX25p.D247N
Missense
SNP
0.440
2-ND
DDX56p.A134V
Missense
SNP
0.509
2-ND
DDX59-
-
-
-
3GainND
DEDD-
-
-
-
3GainND
DEGS1-
-
-
-
3GainND
DENND1Bp.R364H
Missense
SNP
0.331
3GainND
DENND4Bp.A1265T
Missense
SNP
0.320
3GainND
DES-
-
-
-
3GainND
DESI2-
-
-
-
3GainND
DGKD-
-
-
-
3GainND
DGUOK-
-
-
-
3GainND
DHRS9-
-
-
-
3GainND
DHX57-
-
-
-
3GainND
DHX9-
-
-
-
3GainND
DIP2Cp.L1341V
Missense
SNP
0.444
2-ND
DIRC1-
-
-
-
3GainND
DIS3L2-
-
-
-
3GainND
DISC1-
-
-
-
3GainND
DISP1-
-
-
-
3GainND
DLSTp.X325_splice
Splice_Site
SNP
0.512
2-ND
DMXL1p.D1232N
Missense
SNP
0.436
2-ND
DNAH14-
-
-
-
3GainND
DNAH6-
-
-
-
3GainND
DNAH7-
-
-
-
3GainND
DNAH8p.R4240C
Missense
SNP
0.456
2-ND
DNAJB2-
-
-
-
3GainND
DNAJC10-
-
-
-
3GainND
DNAJC27-
-
-
-
3GainND
DNAJC5G-
-
-
-
3GainND
DNER-
-
-
-
3GainND
DNM3-
-
-
-
3GainND
DNMT3A-
-
-
-
3GainND
DNPEP-
-
-
-
3GainND
DOCK10-
-
-
-
3GainND
DOK1-
-
-
-
3GainND
DPM3-
-
-
-
3GainND
DPP10-
-
-
-
3GainND
DPP4-
-
-
-
3GainND
DPT-
-
-
-
3GainND
DPY30-
-
-
-
3GainND
DPYSL3p.K601N
Missense
SNP
0.561
2-ND
DPYSL5-
-
-
-
3GainND
DQX1-
-
-
-
3GainND
DRC1-
-
-
-
3GainND
DSC2p.I628V
Missense
SNP
0.567
2-ND
DSTYK-
-
-
-
3GainND
DTL-
-
-
-
3GainND
DTNB-
-
-
-
3GainND
DTX2p.A355T
Missense
SNP
0.199
2-ND
DTYMK-
-
-
-
3GainND
DUSP10-
-
-
-
3GainND
DUSP11-
-
-
-
3GainND
DUSP12-
-
-
-
3GainND
DUSP19-
-
-
-
3GainND
DUSP2-
-
-
-
3GainND
DUSP23-
-
-
-
3GainND
DUSP27-
-
-
-
3GainND
DUSP28-
-
-
-
3GainND
DYNC2LI1-
-
-
-
3GainND
DYRK3-
-
-
-
3GainND
DYSFp.R1113H
Missense
SNP
0.655
3GainND
DYTN-
-
-
-
3GainND
E2F6-
-
-
-
3GainND
E4F1p.R564W
Missense
SNP
0.527
2-ND
ECEL1-
-
-
-
3GainND
ECM1-
-
-
-
3GainND
EDAR-
-
-
-
3GainND
EDARADD-
-
-
-
3GainND
EDEM3-
-
-
-
3GainND
EEF1B2-
-
-
-
3GainND
EFCAB2-
-
-
-
3GainND
EFEMP1-
-
-
-
3GainND
EFHD1-
-
-
-
3GainND
EFNA1-
-
-
-
3GainND
EFNA3-
-
-
-
3GainND
EFNA4-
-
-
-
3GainND
EFR3B-
-
-
-
3GainND
EGLN1-
-
-
-
3GainND
EGR4-
-
-
-
3GainND
EHBP1-
-
-
-
3GainND
EHD3-
-
-
-
3GainND
EIF2AK2-
-
-
-
3GainND
EIF2AK3-
-
-
-
3GainND
EIF2B4-
-
-
-
3GainND
EIF2D-
-
-
-
3GainND
EIF4E2-
-
-
-
3GainND
EIF5B-
-
-
-
3GainND
EIPR1-
-
-
-
3GainND
ELF3-
-
-
-
3GainND
ELK4-
-
-
-
3GainND
ELMOD3-
-
-
-
3GainND
EMILIN1-
-
-
-
3GainND
EML4p.C428*
Nonsense
SNP
0.269
3GainND
EML6-
-
-
-
3GainND
EMX1-
-
-
-
3GainND
EN1-
-
-
-
3GainND
ENAH-
-
-
-
3GainND
ENO1p.L404F
Missense
SNP
0.502
2-ND
ENSA-
-
-
-
3GainND
EPAS1-
-
-
-
3GainND
EPB41L5-
-
-
-
3GainND
EPC2-
-
-
-
3GainND
EPCAM-
-
-
-
3GainND
EPHA4-
-
-
-
3GainND
EPHB2p.N917D
Missense
SNP
0.474
2-ND
EPHX1-
-
-
-
3GainND
EPPK1p.Y583H
Missense
SNP
0.435
2-ND
EPRS-
-
-
-
3GainND
ERBB4-
-
-
-
3GainND
ERCC3-
-
-
-
3GainND
ERFE-
-
-
-
3GainND
ERICH3p.T1036I
Missense
SNP
0.486
2-ND
ERLEC1-
-
-
-
3GainND
ERMN-
-
-
-
3GainND
ERO1B-
-
-
-
3GainND
ERV3-1p.L13S
Missense
SNP
0.532
2-ND
ESPNL-
-
-
-
3GainND
ESRRG-
-
-
-
3GainND
ETAA1-
-
-
-
3GainND
ETNK2-
-
-
-
3GainND
ETV3-
-
-
-
3GainND
ETV3L-
-
-
-
3GainND
EVA1A-
-
-
-
3GainND
EXO1-
-
-
-
3GainND
EXOC6B-
-
-
-
3GainND
EXOC8-
-
-
-
3GainND
EYA2p.R303H
Missense
SNP
0.534
2-ND
F11R-
-
-
-
3GainND
F13B-
-
-
-
3GainND
F5-
-
-
-
3GainND
FABP1-
-
-
-
3GainND
FAHD2A-
-
-
-
3GainND
FAHD2B-
-
-
-
3GainND
FAM110C-
-
-
-
3GainND
FAM117B-
-
-
-
3GainND
FAM124B-
-
-
-
3GainND
FAM126B-
-
-
-
3GainND
FAM129A-
-
-
-
3GainND
FAM136A-
-
-
-
3GainND
FAM161A-
-
-
-
3GainND
FAM163A-
-
-
-
3GainND
FAM168B-
-
-
-
3GainND
FAM171B-
-
-
-
3GainND
FAM177B-
-
-
-
3GainND
FAM178B-
-
-
-
3GainND
FAM185A-
-
-
-
1LossND
FAM189B-
-
-
-
3GainND
FAM196Bp.Y150*
Nonsense
SNP
0.480
NDNDND
FAM198Ap.R434C
Missense
SNP
0.654
2-ND
FAM20B-
-
-
-
3GainND
FAM228A-
-
-
-
3GainND
FAM228B-
-
-
-
3GainND
FAM237A-
-
-
-
3GainND
FAM49A-
-
-
-
3GainND
FAM50Bp.R84H
Missense
SNP
0.498
2-ND
FAM71A-
-
-
-
3GainND
FAM78B-
-
-
-
3GainND
FAM84A-
-
-
-
3GainND
FAM89A-
-
-
-
3GainND
FAM98A-
-
-
-
3GainND
FANCL-
-
-
-
3GainND
FAP-
-
-
-
3GainND
FARP2-
-
-
-
3GainND
FARSB-
-
-
-
3GainND
FASLG-
-
-
-
3GainND
FASTKD2-
-
-
-
3GainND
FBLN7-
-
-
-
3GainND
FBN3p.P395H
Missense
SNP
0.463
2-ND
FBXL7p.A138V
Missense
SNP
0.445
2-ND
FBXO11-
-
-
-
3GainND
FBXO28-
-
-
-
3GainND
FBXO30p.R735C
Missense
SNP
0.566
2-ND
FBXO36-
-
-
-
3GainND
FBXO41-
-
-
-
3GainND
FBXO48-
-
-
-
3GainND
FCAMR-
-
-
-
3GainND
FCER1A-
-
-
-
3GainND
FCER1G-
-
-
-
3GainND
FCGR1A-
-
-
-
3GainND
FCGR2A-
-
-
-
3GainND
FCGR2B-
-
-
-
3GainND
FCGR2C-
-
-
-
3GainND
FCGR3A-
-
-
-
3GainND
FCGR3B-
-
-
-
3GainND
FCMR-
-
-
-
3GainND
FCRL1-
-
-
-
3GainND
FCRL2-
-
-
-
3GainND
FCRL3-
-
-
-
3GainND
FCRL4-
-
-
-
3GainND
FCRL5-
-
-
-
3GainND
FCRL6-
-
-
-
3GainND
FCRLA-
-
-
-
3GainND
FCRLB-
-
-
-
3GainND
FDPS-
-
-
-
3GainND
FER1L5-
-
-
-
3GainND
FER1L6p.E1611D
Missense
SNP
0.471
2-ND
FEV-
-
-
-
3GainND
FEZ2-
-
-
-
3GainND
FGFRL1p.D33G
Missense
SNP
0.614
2-ND
FH-
-
-
-
3GainND
FHL2-
-
-
-
3GainND
FIGLA-
-
-
-
3GainND
FIGN-
-
-
-
3GainND
FKBP1B-
-
-
-
3GainND
FKRPp.R323C
Missense
SNP
0.448
2-ND
FLAD1-
-
-
-
3GainND
FLG-
-
-
-
3GainND
FLG2p.S628L
Missense
SNP
0.314
3GainND
FLRT2-
-
-
-
3GainND
FLVCR1-
-
-
-
3GainND
FMN2-
-
-
-
3GainND
FMNL2-
-
-
-
3GainND
FMO1-
-
-
-
3GainND
FMO2-
-
-
-
3GainND
FMO3-
-
-
-
3GainND
FMO4-
-
-
-
3GainND
FMO5-
-
-
-
3GainND
FMOD-
-
-
-
3GainND
FN1-
-
-
-
3GainND
FNDC4-
-
-
-
3GainND
FOSL2-
-
-
-
3GainND
FOXA2p.Q179*
Nonsense
SNP
0.560
2-ND
FOXI3-
-
-
-
3GainND
FOXN2-
-
-
-
3GainND
FREM1p.T1016M
Missense
SNP
0.410
2-ND
FRZB-
-
-
-
3GainND
FSHR-
-
-
-
3GainND
FSIP2p.E33D
p.L2432I
Missense
Missense
SNP
SNP
0.679
0.311
3GainND
FTCDNL1-
-
-
-
3GainND
FXYD4p.A54P
Missense
SNP
0.475
2-ND
FZD5-
-
-
-
3GainND
FZD7-
-
-
-
3GainND
G0S2-
-
-
-
3GainND
G6PC2-
-
-
-
3GainND
GABPA-
-
-
-
1LossND
GABPB2-
-
-
-
3GainND
GABREp.R276W
Missense
SNP
0.540
NDNDND
GAL3ST1p.R392C
p.R281H
Missense
Missense
SNP
SNP
0.548
0.471
2-ND
GAL3ST2-
-
-
-
3GainND
GALM-
-
-
-
3GainND
GALNT13-
-
-
-
3GainND
GALNT14-
-
-
-
3GainND
GALNT15p.P174S
Missense
SNP
0.370
2-ND
GALNT2-
-
-
-
3GainND
GALNT3-
-
-
-
3GainND
GALNT5-
-
-
-
3GainND
GAREM2-
-
-
-
3GainND
GATAD2B-
-
-
-
3GainND
GBA-
-
-
-
3GainND
GBX2-
-
-
-
3GainND
GCp.E290K
Missense
SNP
0.562
2-ND
GCA-
-
-
-
3GainND
GCC2-
-
-
-
3GainND
GCFC2-
-
-
-
3GainND
GCG-
-
-
-
3GainND
GCKR-
-
-
-
3GainND
GCSAML-
-
-
-
3GainND
GCSAML-AS1-
-
-
-
3GainND
GDF7-
-
-
-
3GainND
GEMIN6-
-
-
-
3GainND
GEN1-
-
-
-
3GainND
GFPT1-
-
-
-
3GainND
GGCX-
-
-
-
3GainND
GGPS1-
-
-
-
3GainND
GIGYF2-
-
-
-
3GainND
GJA5-
-
-
-
3GainND
GJA8-
-
-
-
3GainND
GJC2-
-
-
-
3GainND
GJD4p.T281I
Missense
SNP
0.471
2-ND
GKN1-
-
-
-
3GainND
GKN2-
-
-
-
3GainND
GLB1L-
-
-
-
3GainND
GLI2-
-
-
-
3GainND
GLMP-
-
-
-
3GainND
GLRX2-
-
-
-
3GainND
GLS-
-
-
-
3GainND
GLTSCR1p.S848N
Missense
SNP
0.497
NDNDND
GLUD2p.A40T
Missense
SNP
0.500
NDNDND
GLUL-
-
-
-
3GainND
GMCL1-
-
-
-
3GainND
GMPPA-
-
-
-
3GainND
GNG4-
-
-
-
3GainND
GNLY-
-
-
-
3GainND
GNPAT-
-
-
-
3GainND
GOLPH3L-
-
-
-
3GainND
GOLT1A-
-
-
-
3GainND
GON4L-
-
-
-
3GainND
GORAB-
-
-
-
3GainND
GPA33-
-
-
-
3GainND
GPAT2-
-
-
-
3GainND
GPATCH11-
-
-
-
3GainND
GPATCH2-
-
-
-
3GainND
GPATCH4-
-
-
-
3GainND
GPBAR1-
-
-
-
3GainND
GPC1-
-
-
-
3GainND
GPC5-
-
-
-
3GainND
GPC6-
-
-
-
3GainND
GPCPD1p.C584Y
Missense
SNP
0.492
2-ND
GPD1p.G141S
Missense
SNP
0.510
2-ND
GPD2-
-
-
-
3GainND
GPN1-
-
-
-
3GainND
GPR1-
-
-
-
3GainND
GPR137B-
-
-
-
3GainND
GPR148-
-
-
-
3GainND
GPR161-
-
-
-
3GainND
GPR17-
-
-
-
3GainND
GPR25-
-
-
-
3GainND
GPR35-
-
-
-
3GainND
GPR37L1-
-
-
-
3GainND
GPR39-
-
-
-
3GainND
GPR45-
-
-
-
3GainND
GPR52-
-
-
-
3GainND
GPR55-
-
-
-
3GainND
GPR75-
-
-
-
3GainND
GPR75-ASB3-
-
-
-
3GainND
GPR89A-
-
-
-
3GainND
GPR89B-
-
-
-
3GainND
GPT2p.P55Q
Missense
SNP
0.529
2-ND
GRB10p.A190T
Missense
SNP
0.418
2-ND
GRB14-
-
-
-
3GainND
GREB1-
-
-
-
3GainND
GREM2-
-
-
-
3GainND
GRHL1-
-
-
-
3GainND
GRIK1-
-
-
-
1LossND
GRM5p.A1145T
Missense
SNP
0.475
2-ND
GTDC1-
-
-
-
3GainND
GTF2A1L-
-
-
-
3GainND
GTF3C2-
-
-
-
3GainND
GTF3C3-
-
-
-
3GainND
GUK1-
-
-
-
3GainND
GULP1-
-
-
-
3GainND
GYPC-
-
-
-
3GainND
H3F3A-
-
-
-
3GainND
HAAO-
-
-
-
3GainND
HADHA-
-
-
-
3GainND
HADHB-
-
-
-
3GainND
HAPLN2-
-
-
-
3GainND
HAX1-
-
-
-
3GainND
HCN3-
-
-
-
3GainND
HDAC4-
-
-
-
3GainND
HDGF-
-
-
-
3GainND
HDLBP-
-
-
-
3GainND
HEATR1-
-
-
-
3GainND
HEATR5B-
-
-
-
3GainND
HECW2-
-
-
-
3GainND
HES6-
-
-
-
3GainND
HHAT-
-
-
-
3GainND
HHIPL2-
-
-
-
3GainND
HIBCH-
-
-
-
3GainND
HID1-
-
-
-
1LossND
HIST2H2AA3-
-
-
-
3GainND
HIST2H2AA4-
-
-
-
3GainND
HIST2H2AB-
-
-
-
3GainND
HIST2H2AC-
-
-
-
3GainND
HIST2H2BE-
-
-
-
3GainND
HIST2H2BF-
-
-
-
3GainND
HIST2H3A-
-
-
-
3GainND
HIST2H3C-
-
-
-
3GainND
HIST2H3D-
-
-
-
3GainND
HIST2H3PS2-
-
-
-
3GainND
HIST2H4A-
-
-
-
3GainND
HIST2H4B-
-
-
-
3GainND
HIST3H2A-
-
-
-
3GainND
HIST3H2BB-
-
-
-
3GainND
HIST3H3-
-
-
-
3GainND
HJURP-
-
-
-
3GainND
HJV-
-
-
-
3GainND
HK2-
-
-
-
3GainND
HLX-
-
-
-
3GainND
HMCN1-
-
-
-
3GainND
HMGCLL1p.X36_splice
Splice_Site
SNP
0.510
2-ND
HNMT-
-
-
-
3GainND
HNRNPLL-
-
-
-
3GainND
HNRNPU-
-
-
-
3GainND
HORMAD1-
-
-
-
3GainND
HPCAL1-
-
-
-
3GainND
HRNR-
-
-
-
3GainND
HS1BP3-
-
-
-
3GainND
HS6ST1-
-
-
-
3GainND
HSD11B1-
-
-
-
3GainND
HSD17B7-
-
-
-
3GainND
HSF1p.S123F
Missense
SNP
0.564
2-ND
HSPA13-
-
-
-
1LossND
HSPA2p.A192T
p.A380V
Missense
Missense
SNP
SNP
0.535
0.477
2-ND
HSPA6-
-
-
-
3GainND
HSPD1-
-
-
-
3GainND
HSPE1-
-
-
-
3GainND
HSPE1-MOB4-
-
-
-
3GainND
HTR2B-
-
-
-
3GainND
HTRA2-
-
-
-
3GainND
HYDINp.R4813*
Nonsense
SNP
0.259
2-ND
IAH1-
-
-
-
3GainND
IARSp.A390T
Missense
SNP
0.479
2-ND
IARS2-
-
-
-
3GainND
IBA57-
-
-
-
3GainND
ICA1L-
-
-
-
3GainND
ICE1p.A1035V
Missense
SNP
0.513
2-ND
ICKp.K413N
Missense
SNP
0.453
2-ND
ICOS-
-
-
-
3GainND
ID2-
-
-
-
3GainND
IDH1-
-
-
-
3GainND
IER5-
-
-
-
3GainND
IFI16-
-
-
-
3GainND
IFIH1p.V478A
Missense
SNP
0.293
3GainND
IFT140p.A1084V
Missense
SNP
0.410
2-ND
IFT172-
-
-
-
3GainND
IGFBP2-
-
-
-
3GainND
IGFBP5-
-
-
-
3GainND
IGFBP7p.G74D
Missense
SNP
0.575
2-ND
IGFN1-
-
-
-
3GainND
IGKV1-33-
-
-
-
3GainND
IGKV1D-13p.D72Y
Missense
SNP
0.219
NDNDND
IGKV1D-33-
-
-
-
3GainND
IGKV2-40-
-
-
-
3GainND
IGKV2D-28-
-
-
-
3GainND
IGKV2D-29-
-
-
-
3GainND
IGKV2D-40-
-
-
-
3GainND
IGSF8-
-
-
-
3GainND
IGSF9-
-
-
-
3GainND
IHH-
-
-
-
3GainND
IKBKE-
-
-
-
3GainND
IKZF2-
-
-
-
3GainND
IL10-
-
-
-
3GainND
IL13RA1p.L236F
Missense
SNP
0.551
NDNDND
IL18R1-
-
-
-
3GainND
IL18RAP-
-
-
-
3GainND
IL19-
-
-
-
3GainND
IL1A-
-
-
-
3GainND
IL1B-
-
-
-
3GainND
IL1F10-
-
-
-
3GainND
IL1R1-
-
-
-
3GainND
IL1R2-
-
-
-
3GainND
IL1RL1-
-
-
-
3GainND
IL1RL2-
-
-
-
3GainND
IL1RN-
-
-
-
3GainND
IL20-
-
-
-
3GainND
IL24-
-
-
-
3GainND
IL31p.S10T
Missense
SNP
0.487
2-ND
IL36A-
-
-
-
3GainND
IL36B-
-
-
-
3GainND
IL36G-
-
-
-
3GainND
IL36RN-
-
-
-
3GainND
IL37-
-
-
-
3GainND
IL6R-
-
-
-
3GainND
IL9p.G58D
Missense
SNP
0.441
2-ND
ILDR2-
-
-
-
3GainND
ILF2-
-
-
-
3GainND
ILKAP-
-
-
-
3GainND
IMMP2L-
-
-
-
3GainND
IMMT-
-
-
-
3GainND
IMP4-
-
-
-
3GainND
INAVA-
-
-
-
3GainND
ING5-
-
-
-
3GainND
INHA-
-
-
-
3GainND
INHBB-
-
-
-
3GainND
INO80B-
-
-
-
3GainND
INO80B-WBP1-
-
-
-
3GainND
INO80D-
-
-
-
3GainND
INPP1-
-
-
-
3GainND
INPP4A-
-
-
-
3GainND
INPP5D-
-
-
-
3GainND
INS-IGF2p.S73*
Nonsense
SNP
0.500
2-ND
INSIG2-
-
-
-
3GainND
INSRR-
-
-
-
3GainND
INTS3p.L924P
Missense
SNP
0.694
3GainND
INTS5p.S370N
Missense
SNP
0.489
2-ND
INTS7p.K421N
Missense
SNP
0.609
3GainND
INTS8p.A991T
Missense
SNP
0.477
2-ND
IPO9-
-
-
-
3GainND
IQCA1-
-
-
-
3GainND
IQGAP3p.V1137M
Missense
SNP
0.311
3GainND
IRF2BP2-
-
-
-
3GainND
IRF6-
-
-
-
3GainND
IRS1-
-
-
-
3GainND
ISG20L2-
-
-
-
3GainND
ITGA10-
-
-
-
3GainND
ITGA8p.F450I
Missense
SNP
0.454
2-ND
ITGAV-
-
-
-
3GainND
ITGB1BP1-
-
-
-
3GainND
ITGB6-
-
-
-
3GainND
ITLN1-
-
-
-
3GainND
ITLN2-
-
-
-
3GainND
ITM2C-
-
-
-
3GainND
ITPKB-
-
-
-
3GainND
ITPRIPL1-
-
-
-
3GainND
ITSN2-
-
-
-
3GainND
IVL-
-
-
-
3GainND
IVNS1ABP-
-
-
-
3GainND
IWS1-
-
-
-
3GainND
JAM2-
-
-
-
1LossND
JMJD1Cp.G1693D
Missense
SNP
0.408
2-ND
JMJD4-
-
-
-
3GainND
JTB-
-
-
-
3GainND
KANSL1L-
-
-
-
3GainND
KANSL3-
-
-
-
3GainND
KAT6Bp.Y2012C
Missense
SNP
0.515
2-ND
KBTBD2p.A79T
Missense
SNP
0.416
2-ND
KCMF1-
-
-
-
3GainND
KCNA3p.R218H
Missense
SNP
0.501
2-ND
KCNE4-
-
-
-
3GainND
KCNF1-
-
-
-
3GainND
KCNG3p.C90Y
Missense
SNP
0.344
3GainND
KCNH1-
-
-
-
3GainND
KCNH7-
-
-
-
3GainND
KCNIP3-
-
-
-
3GainND
KCNJ10-
-
-
-
3GainND
KCNJ13-
-
-
-
3GainND
KCNJ3-
-
-
-
3GainND
KCNJ9-
-
-
-
3GainND
KCNK1-
-
-
-
3GainND
KCNK12-
-
-
-
3GainND
KCNK2-
-
-
-
3GainND
KCNK3-
-
-
-
3GainND
KCNN3-
-
-
-
3GainND
KCNS3-
-
-
-
3GainND
KCNT2-
-
-
-
3GainND
KCTD18-
-
-
-
3GainND
KCTD3-
-
-
-
3GainND
KDM1Bp.V205I
Missense
SNP
0.554
2-ND
KDM3A-
-
-
-
3GainND
KDM5B-
-
-
-
3GainND
KHDC4-
-
-
-
3GainND
KHK-
-
-
-
3GainND
KIAA0040-
-
-
-
3GainND
KIAA1109p.T4427S
Missense
SNP
0.529
2-ND
KIAA1211L-
-
-
-
3GainND
KIAA1549p.A1708V
Missense
SNP
0.311
2-ND
KIAA1614-
-
-
-
3GainND
KIAA1841-
-
-
-
3GainND
KIAA2012-
-
-
-
3GainND
KIDINS220-
-
-
-
3GainND
KIF14-
-
-
-
3GainND
KIF1A-
-
-
-
3GainND
KIF21B-
-
-
-
3GainND
KIF26Ap.G1729R
Missense
SNP
0.500
2-ND
KIF26B-
-
-
-
3GainND
KIF3C-
-
-
-
3GainND
KIF5C-
-
-
-
3GainND
KIFAP3-
-
-
-
3GainND
KIRREL1-
-
-
-
3GainND
KISS1-
-
-
-
3GainND
KLF11-
-
-
-
3GainND
KLF7-
-
-
-
3GainND
KLHDC8A-
-
-
-
3GainND
KLHDC9-
-
-
-
3GainND
KLHL1-
-
-
-
3GainND
KLHL12-
-
-
-
3GainND
KLHL20-
-
-
-
3GainND
KLHL29-
-
-
-
3GainND
KLHL30-
-
-
-
3GainND
KLHL4p.P559H
Missense
SNP
0.490
NDNDND
KMO-
-
-
-
3GainND
KPRP-
-
-
-
3GainND
KRCC1-
-
-
-
3GainND
KREMEN1p.L414R
Missense
SNP
0.391
2-ND
KRTAP10-1-
-
-
-
1LossND
KRTAP10-10-
-
-
-
1LossND
KRTAP10-11-
-
-
-
1LossND
KRTAP10-2p.R236C
Missense
SNP
0.427
1LossND
KRTAP10-3-
-
-
-
1LossND
KRTAP10-4-
-
-
-
1LossND
KRTAP10-5-
-
-
-
1LossND
KRTAP10-6-
-
-
-
1LossND
KRTAP10-7-
-
-
-
1LossND
KRTAP10-8-
-
-
-
1LossND
KRTAP10-9-
-
-
-
1LossND
KRTAP11-1-
-
-
-
1LossND
KRTAP12-4-
-
-
-
1LossND
KRTAP13-1-
-
-
-
1LossND
KRTAP13-2-
-
-
-
1LossND
KRTAP13-3-
-
-
-
1LossND
KRTAP13-4-
-
-
-
1LossND
KRTAP15-1-
-
-
-
1LossND
KRTAP19-1-
-
-
-
1LossND
KRTAP19-2-
-
-
-
1LossND
KRTAP19-3-
-
-
-
1LossND
KRTAP19-4-
-
-
-
1LossND
KRTAP19-5-
-
-
-
1LossND
KRTAP19-6-
-
-
-
1LossND
KRTAP19-7-
-
-
-
1LossND
KRTAP19-8-
-
-
-
1LossND
KRTAP20-1-
-
-
-
1LossND
KRTAP20-2-
-
-
-
1LossND
KRTAP20-3-
-
-
-
1LossND
KRTAP20-4-
-
-
-
1LossND
KRTAP21-1-
-
-
-
1LossND
KRTAP21-2-
-
-
-
1LossND
KRTAP21-3-
-
-
-
1LossND
KRTAP22-1-
-
-
-
1LossND
KRTAP22-2-
-
-
-
1LossND
KRTAP23-1-
-
-
-
1LossND
KRTAP24-1-
-
-
-
1LossND
KRTAP25-1-
-
-
-
1LossND
KRTAP26-1-
-
-
-
1LossND
KRTAP27-1-
-
-
-
1LossND
KRTAP6-1-
-
-
-
1LossND
KRTAP6-2-
-
-
-
1LossND
KRTAP7-1-
-
-
-
1LossND
KRTAP8-1-
-
-
-
1LossND
KRTCAP2-
-
-
-
3GainND
KRTCAP3-
-
-
-
3GainND
KYNU-
-
-
-
3GainND
LAD1-
-
-
-
3GainND
LAMB3-
-
-
-
3GainND
LAMC1-
-
-
-
3GainND
LAMC2-
-
-
-
3GainND
LAMTOR2-
-
-
-
3GainND
LANCL1-
-
-
-
3GainND
LAPTM4A-
-
-
-
3GainND
LARP1Bp.P536S
Missense
SNP
0.434
2-ND
LAX1-
-
-
-
3GainND
LBH-
-
-
-
3GainND
LBR-
-
-
-
3GainND
LBX2-
-
-
-
3GainND
LCE1A-
-
-
-
3GainND
LCE1B-
-
-
-
3GainND
LCE1C-
-
-
-
3GainND
LCE1E-
-
-
-
3GainND
LCE1F-
-
-
-
3GainND
LCE2A-
-
-
-
3GainND
LCE2B-
-
-
-
3GainND
LCE2C-
-
-
-
3GainND
LCE2D-
-
-
-
3GainND
LCE3A-
-
-
-
3GainND
LCE3B-
-
-
-
3GainND
LCE3C-
-
-
-
3GainND
LCE3D-
-
-
-
3GainND
LCE3E-
-
-
-
3GainND
LCE4A-
-
-
-
3GainND
LCE5A-
-
-
-
3GainND
LCE6A-
-
-
-
3GainND
LCLAT1-
-
-
-
3GainND
LCT-
-
-
-
3GainND
LDAH-
-
-
-
3GainND
LEFTY1-
-
-
-
3GainND
LEFTY2-
-
-
-
3GainND
LELP1-
-
-
-
3GainND
LEMD1p.L161F
Missense
SNP
0.330
3GainND
LENEP-
-
-
-
3GainND
LGALS8-
-
-
-
3GainND
LGALSL-
-
-
-
3GainND
LGR6-
-
-
-
3GainND
LHCGR-
-
-
-
3GainND
LHX4-
-
-
-
3GainND
LHX9-
-
-
-
3GainND
LIMS1-
-
-
-
3GainND
LIMS2-
-
-
-
3GainND
LIMS3-
-
-
-
3GainND
LIMS3-LOC440895-
-
-
-
3GainND
LIMS4-
-
-
-
3GainND
LIN9-
-
-
-
3GainND
LINGO4-
-
-
-
3GainND
LIPI-
-
-
-
1LossND
LIPT1-
-
-
-
3GainND
LIX1L-
-
-
-
3GainND
LMAN2L-
-
-
-
3GainND
LMNA-
-
-
-
3GainND
LMOD1-
-
-
-
3GainND
LMX1A-
-
-
-
3GainND
LNX2p.A195V
Missense
SNP
0.425
2-ND
LONRF2-
-
-
-
3GainND
LOR-
-
-
-
3GainND
LOXL3-
-
-
-
3GainND
LPGAT1-
-
-
-
3GainND
LPIN1-
-
-
-
3GainND
LRP1B-
-
-
-
3GainND
LRPPRC-
-
-
-
3GainND
LRRC52-
-
-
-
3GainND
LRRC71-
-
-
-
3GainND
LRRFIP1-
-
-
-
3GainND
LRRIQ3-
-
-
-
3GainND
LRRN2-
-
-
-
3GainND
LRRTM1-
-
-
-
3GainND
LRRTM4-
-
-
-
3GainND
LTBP1-
-
-
-
3GainND
LTN1-
-
-
-
1LossND
LY75-
-
-
-
3GainND
LY75-CD302-
-
-
-
3GainND
LY9-
-
-
-
3GainND
LYG1-
-
-
-
3GainND
LYG2-
-
-
-
3GainND
LYPD1-
-
-
-
3GainND
LYPD6-
-
-
-
3GainND
LYPD6B-
-
-
-
3GainND
LYPD8-
-
-
-
3GainND
LYPLAL1-
-
-
-
3GainND
LYSMD1-
-
-
-
3GainND
LYST-
-
-
-
3GainND
M1AP-
-
-
-
3GainND
MAB21L4-
-
-
-
3GainND
MAEL-
-
-
-
3GainND
MAIP1-
-
-
-
3GainND
MAL-
-
-
-
3GainND
MALL-
-
-
-
3GainND
MAP10-
-
-
-
3GainND
MAP1LC3C-
-
-
-
3GainND
MAP2-
-
-
-
3GainND
MAP3K19-
-
-
-
3GainND
MAP3K2-
-
-
-
3GainND
MAP3K21-
-
-
-
3GainND
MAP3K7CL-
-
-
-
1LossND
MAP4K3-
-
-
-
3GainND
MAP4K4-
-
-
-
3GainND
MAPKAPK2-
-
-
-
3GainND
MAPRE3-
-
-
-
3GainND
MARC1-
-
-
-
3GainND
MARC2-
-
-
-
3GainND
MARCH2p.V190A
Missense
SNP
0.349
2-ND
MARCH4-
-
-
-
3GainND
MARCH5p.A244V
Missense
SNP
0.453
2-ND
MARCH6p.R554*
Nonsense
SNP
0.405
2-ND
MARCH7-
-
-
-
3GainND
MARCO-
-
-
-
3GainND
MARK1-
-
-
-
3GainND
MARS2-
-
-
-
3GainND
MAT2A-
-
-
-
3GainND
MATN3-
-
-
-
3GainND
MBD5-
-
-
-
3GainND
MBOAT2-
-
-
-
3GainND
MCEE-
-
-
-
3GainND
MCF2L2p.E286K
Missense
SNP
0.500
2-ND
MCFD2-
-
-
-
3GainND
MCL1-
-
-
-
3GainND
MCM6-
-
-
-
3GainND
MDH1-
-
-
-
3GainND
MDH1B-
-
-
-
3GainND
MDM4-
-
-
-
3GainND
MEF2D-
-
-
-
3GainND
MEIS1-
-
-
-
3GainND
MEMO1-
-
-
-
3GainND
MERTK-
-
-
-
3GainND
METTL11B-
-
-
-
3GainND
METTL13-
-
-
-
3GainND
METTL18-
-
-
-
3GainND
METTL21A-
-
-
-
3GainND
MEX3A-
-
-
-
3GainND
MFF-
-
-
-
3GainND
MFN1p.A344V
Missense
SNP
0.510
2-ND
MFSD2B-
-
-
-
3GainND
MFSD4A-
-
-
-
3GainND
MFSD6-
-
-
-
3GainND
MFSD9-
-
-
-
3GainND
MGAT4A-
-
-
-
3GainND
MGAT5-
-
-
-
3GainND
MGST3-
-
-
-
3GainND
MIA3-
-
-
-
3GainND
MINDY1-
-
-
-
3GainND
MITD1-
-
-
-
3GainND
MIXL1-
-
-
-
3GainND
MLLT11-
-
-
-
3GainND
MLPH-
-
-
-
3GainND
MMADHC-
-
-
-
3GainND
MNDA-
-
-
-
3GainND
MOB1A-
-
-
-
3GainND
MOB4-
-
-
-
3GainND
MOGAT1-
-
-
-
3GainND
MOGS-
-
-
-
3GainND
MORN2-
-
-
-
3GainND
MPC2-
-
-
-
3GainND
MPHOSPH10-
-
-
-
3GainND
MPP4-
-
-
-
3GainND
MPPE1p.A265T
Missense
SNP
0.431
2-ND
MPV17-
-
-
-
3GainND
MPZ-
-
-
-
3GainND
MPZL1-
-
-
-
3GainND
MR1-
-
-
-
3GainND
MREG-
-
-
-
3GainND
MRGPRDp.G147V
Missense
SNP
0.488
2-ND
MROH9-
-
-
-
3GainND
MRPL19-
-
-
-
3GainND
MRPL24-
-
-
-
3GainND
MRPL30-
-
-
-
3GainND
MRPL33-
-
-
-
3GainND
MRPL35-
-
-
-
3GainND
MRPL39-
-
-
-
1LossND
MRPL44-
-
-
-
3GainND
MRPL53-
-
-
-
3GainND
MRPL55-
-
-
-
3GainND
MRPL9-
-
-
-
3GainND
MRPS14-
-
-
-
3GainND
MRPS21-
-
-
-
3GainND
MRPS5-
-
-
-
3GainND
MRPS9-
-
-
-
3GainND
MRVI1p.A366T
Missense
SNP
0.421
2-ND
MSANTD2p.V135L
Missense
SNP
0.504
2-ND
MSGN1-
-
-
-
3GainND
MSH2-
-
-
-
3GainND
MSH6-
-
-
-
3GainND
MSTN-
-
-
-
3GainND
MSTO1-
-
-
-
3GainND
MT1HL1-
-
-
-
3GainND
MTA3-
-
-
-
3GainND
MTERF4-
-
-
-
3GainND
MTHFD2-
-
-
-
3GainND
MTIF2-
-
-
-
3GainND
MTMR11-
-
-
-
3GainND
MTR-
-
-
-
3GainND
MTTPp.A389V
Missense
SNP
0.514
2-ND
MTX1-
-
-
-
3GainND
MUC1-
-
-
-
3GainND
MXD1-
-
-
-
3GainND
MYBPH-
-
-
-
3GainND
MYCN-
-
-
-
3GainND
MYH7Bp.K618E
Missense
SNP
0.528
2-ND
MYH8p.A1130V
Missense
SNP
0.536
2-ND
MYL1-
-
-
-
3GainND
MYO1B-
-
-
-
3GainND
MYO7B-
-
-
-
3GainND
MYOC-
-
-
-
3GainND
MYOCOS-
-
-
-
3GainND
MYOG-
-
-
-
3GainND
MYT1Lp.L571I
Missense
SNP
0.291
3GainND
MZF1p.A33V
Missense
SNP
0.498
2-ND
MZT2A-
-
-
-
3GainND
MZT2B-
-
-
-
3GainND
N6AMT1-
-
-
-
1LossND
NAB1-
-
-
-
3GainND
NABP1-
-
-
-
3GainND
NAGK-
-
-
-
3GainND
NAT8-
-
-
-
3GainND
NAV1-
-
-
-
3GainND
NAXE-
-
-
-
3GainND
NBAS-
-
-
-
3GainND
NBEAL1-
-
-
-
3GainND
NBPF10-
-
-
-
3GainND
NBPF11-
-
-
-
3GainND
NBPF12-
-
-
-
3GainND
NBPF14-
-
-
-
3GainND
NBPF15-
-
-
-
3GainND
NBPF19-
-
-
-
3GainND
NBPF20-
-
-
-
3GainND
NBPF9-
-
-
-
3GainND
NCAM2-
-
-
-
1LossND
NCAPH-
-
-
-
3GainND
NCF2-
-
-
-
3GainND
NCK2-
-
-
-
3GainND
NCKAP1-
-
-
-
3GainND
NCKAP5-
-
-
-
3GainND
NCL-
-
-
-
3GainND
NCOA1-
-
-
-
3GainND
NCOR2p.D401N
Missense
SNP
0.444
2-ND
NCSTN-
-
-
-
3GainND
NDUFA10-
-
-
-
3GainND
NDUFAF7-
-
-
-
3GainND
NDUFS1p.I300N
Missense
SNP
0.254
3GainND
NDUFS2-
-
-
-
3GainND
NEB-
-
-
-
3GainND
NECTIN4-
-
-
-
3GainND
NEFHp.A162V
Missense
SNP
0.388
2-ND
NEGR1-
-
-
-
3GainND
NEIL1p.Q364*
Nonsense
SNP
0.410
2-ND
NEIL2.
Splice_Site
SNP
0.379
2-ND
NEIL3p.S304N
Missense
SNP
0.414
2-ND
NEK10p.R643*
Nonsense
SNP
0.494
2-ND
NEK2-
-
-
-
3GainND
NEK7-
-
-
-
3GainND
NEMP2-
-
-
-
3GainND
NENF-
-
-
-
3GainND
NES-
-
-
-
3GainND
NETO2p.R50*
Nonsense
SNP
0.449
2-ND
NEU2-
-
-
-
3GainND
NEU4-
-
-
-
3GainND
NEURL3-
-
-
-
3GainND
NFASC-
-
-
-
3GainND
NFU1-
-
-
-
3GainND
NGEF-
-
-
-
3GainND
NHEJ1-
-
-
-
3GainND
NHLH1-
-
-
-
3GainND
NID1-
-
-
-
3GainND
NIF3L1-
-
-
-
3GainND
NIFK-
-
-
-
3GainND
NIT1-
-
-
-
3GainND
NKTRp.S967L
Missense
SNP
0.460
2-ND
NLRC4-
-
-
-
3GainND
NLRP2p.E1036G
Missense
SNP
0.450
2-ND
NLRP3-
-
-
-
3GainND
NME7-
-
-
-
3GainND
NMI-
-
-
-
3GainND
NMNAT2-
-
-
-
3GainND
NMS-
-
-
-
3GainND
NMUR1-
-
-
-
3GainND
NOL10-
-
-
-
3GainND
NOP58-
-
-
-
3GainND
NOS1AP-
-
-
-
3GainND
NOSTRIN-
-
-
-
3GainND
NOTCH2NLA-
-
-
-
3GainND
NOTO-
-
-
-
3GainND
NPAS2-
-
-
-
3GainND
NPHP1-
-
-
-
3GainND
NPHS2-
-
-
-
3GainND
NPL-
-
-
-
3GainND
NPPC-
-
-
-
3GainND
NPR1-
-
-
-
3GainND
NPRL2p.R295*
Nonsense
SNP
0.562
2-ND
NR1I3-
-
-
-
3GainND
NR2C2p.M199V
Missense
SNP
0.494
2-ND
NR4A2-
-
-
-
3GainND
NR5A2-
-
-
-
3GainND
NRBP1p.E455D
Missense
SNP
0.290
3GainND
NRG1p.Y58C
Missense
SNP
0.495
2-ND
NRIP1-
-
-
-
1LossND
NRP2-
-
-
-
3GainND
NRXN1-
-
-
-
3GainND
NSL1-
-
-
-
3GainND
NT5C1B-
-
-
-
3GainND
NT5C1B-RDH14-
-
-
-
3GainND
NT5DC4-
-
-
-
3GainND
NTPCR-
-
-
-
3GainND
NTRK1-
-
-
-
3GainND
NTSR2-
-
-
-
3GainND
NUAK2-
-
-
-
3GainND
NUCB1p.D153N
Missense
SNP
0.385
2-ND
NUCKS1-
-
-
-
3GainND
NUDT17-
-
-
-
3GainND
NUDT4B-
-
-
-
3GainND
NUF2-
-
-
-
3GainND
NUP133-
-
-
-
3GainND
NUP210Lp.R1005G
Missense
SNP
0.284
3GainND
NUP35-
-
-
-
3GainND
NVL-
-
-
-
3GainND
NXPH2-
-
-
-
3GainND
NYAP2-
-
-
-
3GainND
OAZ3-
-
-
-
3GainND
OBSCN-
-
-
-
3GainND
OBSL1-
-
-
-
3GainND
OCLM-
-
-
-
3GainND
ODC1-
-
-
-
3GainND
ODR4-
-
-
-
3GainND
OGTp.R239H
Missense
SNP
0.489
NDNDND
OLFML2B-
-
-
-
3GainND
OPN3-
-
-
-
3GainND
OPRD1p.V181M
Missense
SNP
0.526
2-ND
OPTC-
-
-
-
3GainND
OR10J1-
-
-
-
3GainND
OR10J3-
-
-
-
3GainND
OR10J5-
-
-
-
3GainND
OR10K1-
-
-
-
3GainND
OR10K2-
-
-
-
3GainND
OR10R2-
-
-
-
3GainND
OR10T2-
-
-
-
3GainND
OR10X1-
-
-
-
3GainND
OR10Z1-
-
-
-
3GainND
OR11G2p.P56S
Missense
SNP
0.357
2-ND
OR11L1-
-
-
-
3GainND
OR13G1-
-
-
-
3GainND
OR14A16-
-
-
-
3GainND
OR14A2-
-
-
-
3GainND
OR14C36p.N292S
Missense
SNP
0.251
3GainND
OR14I1-
-
-
-
3GainND
OR14K1-
-
-
-
3GainND
OR1C1-
-
-
-
3GainND
OR2A1-
-
-
-
1LossND
OR2A42-
-
-
-
1LossND
OR2A7-
-
-
-
1LossND
OR2AJ1-
-
-
-
3GainND
OR2AK2-
-
-
-
3GainND
OR2B11-
-
-
-
3GainND
OR2C3-
-
-
-
3GainND
OR2G2-
-
-
-
3GainND
OR2G3-
-
-
-
3GainND
OR2G6-
-
-
-
3GainND
OR2L13-
-
-
-
3GainND
OR2L2-
-
-
-
3GainND
OR2L3-
-
-
-
3GainND
OR2L5-
-
-
-
3GainND
OR2L8-
-
-
-
3GainND
OR2M2-
-
-
-
3GainND
OR2M3-
-
-
-
3GainND
OR2M4-
-
-
-
3GainND
OR2M5-
-
-
-
3GainND
OR2M7-
-
-
-
3GainND
OR2T1p.I195M
Missense
SNP
0.302
3GainND
OR2T10-
-
-
-
3GainND
OR2T11-
-
-
-
3GainND
OR2T12-
-
-
-
3GainND
OR2T2-
-
-
-
3GainND
OR2T27-
-
-
-
3GainND
OR2T29-
-
-
-
3GainND
OR2T3-
-
-
-
3GainND
OR2T33-
-
-
-
3GainND
OR2T34-
-
-
-
3GainND
OR2T35-
-
-
-
3GainND
OR2T4-
-
-
-
3GainND
OR2T5-
-
-
-
3GainND
OR2T6-
-
-
-
3GainND
OR2T8-
-
-
-
3GainND
OR2W3-
-
-
-
3GainND
OR6B2-
-
-
-
3GainND
OR6B3-
-
-
-
3GainND
OR6F1-
-
-
-
3GainND
OR6K2-
-
-
-
3GainND
OR6K3-
-
-
-
3GainND
OR6K6-
-
-
-
3GainND
OR6N1-
-
-
-
3GainND
OR6N2-
-
-
-
3GainND
OR6P1-
-
-
-
3GainND
OR6Y1-
-
-
-
3GainND
OR7G3p.S249F
Missense
SNP
0.487
2-ND
ORC2-
-
-
-
3GainND
ORC4-
-
-
-
3GainND
ORMDL1-
-
-
-
3GainND
OSGEPL1-
-
-
-
3GainND
OSR1-
-
-
-
3GainND
OST4-
-
-
-
3GainND
OTOF-
-
-
-
3GainND
OTOP2p.A400V
Missense
SNP
1.000
1LossND
OTOP3-
-
-
-
1LossND
OTOS-
-
-
-
3GainND
OTUD7B-
-
-
-
3GainND
OTX1-
-
-
-
3GainND
OXA1Lp.T435A
Missense
SNP
0.486
2-ND
OXER1-
-
-
-
3GainND
PABPC4L-
-
-
-
3GainND
PAIP2B-
-
-
-
3GainND
PAPD7p.R321*
Nonsense
SNP
0.516
NDNDND
PAPLNp.Y268C
Missense
SNP
0.401
2-ND
PAPOLG-
-
-
-
3GainND
PAPPAp.R354C
Missense
SNP
0.487
2-ND
PAPPA2-
-
-
-
3GainND
PAPSS1p.V68M
Missense
SNP
0.568
2-ND
PAQR6-
-
-
-
3GainND
PARD3B-
-
-
-
3GainND
PARP1-
-
-
-
3GainND
PASK-
-
-
-
3GainND
PAX3-
-
-
-
3GainND
PAX5p.A385T
Missense
SNP
0.443
2-ND
PAX8-
-
-
-
3GainND
PBX1-
-
-
-
3GainND
PBXIP1-
-
-
-
3GainND
PCARE-
-
-
-
3GainND
PCBP1-
-
-
-
3GainND
PCDH10-
-
-
-
3GainND
PCDH15p.A159T
Missense
SNP
0.485
2-ND
PCDH17-
-
-
-
3GainND
PCDH18-
-
-
-
3GainND
PCDH7-
-
-
-
3GainND
PCDH9-
-
-
-
3GainND
PCDHB12p.R371*
Nonsense
SNP
0.504
2-ND
PCDHB4p.A213V
Missense
SNP
0.530
2-ND
PCDHGA8p.R32H
Missense
SNP
0.536
2-ND
PCDHGB2p.V588M
Missense
SNP
0.538
2-ND
PCGF1-
-
-
-
3GainND
PCNX2-
-
-
-
3GainND
PCP4L1-
-
-
-
3GainND
PCYOX1-
-
-
-
3GainND
PDC-
-
-
-
3GainND
PDCD1-
-
-
-
3GainND
PDCL3-
-
-
-
3GainND
PDE1A-
-
-
-
3GainND
PDE4DIP-
-
-
-
3GainND
PDE6D-
-
-
-
3GainND
PDGFRAp.A978T
Missense
SNP
0.487
2-ND
PDIA6-
-
-
-
3GainND
PDZK1-
-
-
-
3GainND
PEA15-
-
-
-
3GainND
PEAR1-
-
-
-
3GainND
PECR-
-
-
-
3GainND
PELI1-
-
-
-
3GainND
PER2-
-
-
-
3GainND
PEX11B-
-
-
-
3GainND
PEX13-
-
-
-
3GainND
PEX19-
-
-
-
3GainND
PFDN2-
-
-
-
3GainND
PFKFB2-
-
-
-
3GainND
PFN4-
-
-
-
3GainND
PGAP1-
-
-
-
3GainND
PGBD2-
-
-
-
3GainND
PGBD5-
-
-
-
3GainND
PGLYRP3-
-
-
-
3GainND
PGLYRP4-
-
-
-
3GainND
PHF19p.V264M
Missense
SNP
0.361
2-ND
PHLDA3-
-
-
-
3GainND
PI4KB-
-
-
-
3GainND
PIAS2p.M351T
Missense
SNP
0.517
2-ND
PIAS3-
-
-
-
3GainND
PID1-
-
-
-
3GainND
PIEZO1p.R1356C
Missense
SNP
0.510
2-ND
PIGC-
-
-
-
3GainND
PIGF-
-
-
-
3GainND
PIGM-
-
-
-
3GainND
PIGR-
-
-
-
3GainND
PIGZp.L473P
Missense
SNP
0.537
2-ND
PIK3C2B-
-
-
-
3GainND
PIK3C3p.A543V
Missense
SNP
0.448
2-ND
PIKFYVE-
-
-
-
3GainND
PIP5K1A-
-
-
-
3GainND
PKDCC-
-
-
-
3GainND
PKHD1p.G3025S
Missense
SNP
0.479
2-ND
PKLR-
-
-
-
3GainND
PKP1-
-
-
-
3GainND
PKP4p.A550V
Missense
SNP
0.273
3GainND
PLA2G2Dp.C138R
Missense
SNP
0.483
2-ND
PLA2G4A-
-
-
-
4GainND
PLA2R1-
-
-
-
3GainND
PLB1-
-
-
-
3GainND
PLCB4p.P866A
Missense
SNP
0.484
2-ND
PLCD4-
-
-
-
3GainND
PLCG2p.D973N
Missense
SNP
0.475
2-ND
PLCL1-
-
-
-
3GainND
PLD5-
-
-
-
3GainND
PLEK-
-
-
-
3GainND
PLEKHA6-
-
-
-
3GainND
PLEKHB2-
-
-
-
3GainND
PLEKHG4Bp.G150S
Missense
SNP
0.449
2-ND
PLEKHH2-
-
-
-
3GainND
PLEKHM3-
-
-
-
3GainND
PLEKHO1-
-
-
-
3GainND
PLPPR3p.R563W
Missense
SNP
0.470
2-ND
PLXNA2-
-
-
-
3GainND
PLXNB1p.C1327Y
Missense
SNP
0.982
1LossND
PLXNB3p.A347V
Missense
SNP
0.553
NDNDND
PM20D1-
-
-
-
3GainND
PMF1-
-
-
-
3GainND
PMF1-BGLAP-
-
-
-
3GainND
PMS1-
-
-
-
3GainND
PMVK-
-
-
-
3GainND
PNCKp.P424L
Missense
SNP
0.414
NDNDND
PNKD-
-
-
-
3GainND
PNO1-
-
-
-
3GainND
PNPT1-
-
-
-
3GainND
POGK-
-
-
-
3GainND
POGZ-
-
-
-
3GainND
POLE4-
-
-
-
3GainND
POLR1A-
-
-
-
3GainND
POLR1B-
-
-
-
3GainND
POLR2D-
-
-
-
3GainND
POLR2J2-
-
-
-
1LossND
POLR2J3-
-
-
-
1LossND
POLR3C-
-
-
-
3GainND
POLR3GL-
-
-
-
3GainND
POM121L12-
-
-
-
3GainND
POMC-
-
-
-
3GainND
PORCNp.A349V
Missense
SNP
0.442
NDNDND
POTECp.R21M
Missense
SNP
0.497
2-ND
POTED-
-
-
-
1LossND
POU2F1-
-
-
-
3GainND
POU3F3-
-
-
-
3GainND
PPFIA3p.A294V
Missense
SNP
0.483
2-ND
PPFIA4-
-
-
-
3GainND
PPIL3-
-
-
-
3GainND
PPM1B-
-
-
-
3GainND
PPM1G-
-
-
-
3GainND
PPOX-
-
-
-
3GainND
PPP1CB-
-
-
-
3GainND
PPP1R12B-
-
-
-
3GainND
PPP1R15B-
-
-
-
3GainND
PPP1R1C-
-
-
-
3GainND
PPP1R21-
-
-
-
3GainND
PPP1R7-
-
-
-
3GainND
PPP2R5A-
-
-
-
3GainND
PPP3R1-
-
-
-
3GainND
PPP4R3B-
-
-
-
3GainND
PQLC3-
-
-
-
3GainND
PRADC1-
-
-
-
3GainND
PRCC-
-
-
-
3GainND
PRDX6-
-
-
-
3GainND
PREB-
-
-
-
3GainND
PRELP-
-
-
-
3GainND
PREPL-
-
-
-
3GainND
PRG4-
-
-
-
3GainND
PRKAB2-
-
-
-
3GainND
PRKAG3-
-
-
-
3GainND
PRKCE-
-
-
-
3GainND
PRKD3-
-
-
-
3GainND
PRLH-
-
-
-
3GainND
PROC-
-
-
-
3GainND
PROKR1-
-
-
-
3GainND
PROM2-
-
-
-
3GainND
PROX1p.G293R
Missense
SNP
0.306
3GainND
PRPF3-
-
-
-
3GainND
PRPF40A-
-
-
-
3GainND
PRR30-
-
-
-
3GainND
PRR9-
-
-
-
3GainND
PRRC2C-
-
-
-
3GainND
PRRX1-
-
-
-
3GainND
PRSS38-
-
-
-
3GainND
PRSS56-
-
-
-
3GainND
PRUNE1-
-
-
-
3GainND
PRXp.R1436W
Missense
SNP
0.467
2-ND
PSD4-
-
-
-
3GainND
PSEN2-
-
-
-
3GainND
PSMB4-
-
-
-
3GainND
PSMD1-
-
-
-
3GainND
PSMD14-
-
-
-
3GainND
PSMD4-
-
-
-
3GainND
PSME4-
-
-
-
3GainND
PTBP3p.G336*
Nonsense
SNP
0.484
2-ND
PTCD3-
-
-
-
3GainND
PTDSS2p.E225K
Missense
SNP
0.376
2-ND
PTGDRp.R247H
Missense
SNP
0.531
2-ND
PTGS2-
-
-
-
3GainND
PTH1Rp.A386T
p.T506N
Missense
Missense
SNP
SNP
0.481
0.550
2-ND
PTH2R-
-
-
-
3GainND
PTMA-
-
-
-
3GainND
PTPN14-
-
-
-
3GainND
PTPN18-
-
-
-
3GainND
PTPN4-
-
-
-
3GainND
PTPN7-
-
-
-
3GainND
PTPRBp.M750T
Missense
SNP
0.551
2-ND
PTPRC-
-
-
-
3GainND
PTPRN-
-
-
-
3GainND
PTRFp.T266M
Missense
SNP
0.479
NDNDND
PTRHD1-
-
-
-
3GainND
PUM1p.P415L
Missense
SNP
0.517
2-ND
PUM2-
-
-
-
3GainND
PUS10-
-
-
-
3GainND
PXDN-
-
-
-
3GainND
PYCR2-
-
-
-
3GainND
PYGO2-
-
-
-
3GainND
PYHIN1-
-
-
-
3GainND
QPCT-
-
-
-
3GainND
QSOX1-
-
-
-
3GainND
R3HDM1-
-
-
-
3GainND
RAB10-
-
-
-
3GainND
RAB11FIP4-
-
-
-
1LossND
RAB11FIP5-
-
-
-
3GainND
RAB13-
-
-
-
3GainND
RAB17-
-
-
-
3GainND
RAB1A-
-
-
-
3GainND
RAB25-
-
-
-
3GainND
RAB29-
-
-
-
3GainND
RAB3GAP1-
-
-
-
3GainND
RAB3GAP2-
-
-
-
3GainND
RAB4A-
-
-
-
3GainND
RAB6C-
-
-
-
3GainND
RAB6D-
-
-
-
3GainND
RABGAP1L-
-
-
-
3GainND
RABIF-
-
-
-
3GainND
RABL2A-
-
-
-
3GainND
RAD51AP2p.I800M
Missense
SNP
0.742
3GainND
RALB-
-
-
-
3GainND
RALGPS2-
-
-
-
3GainND
RAMP1-
-
-
-
3GainND
RANBP2-
-
-
-
3GainND
RAPH1-
-
-
-
3GainND
RASA4-
-
-
-
1LossND
RASA4B-
-
-
-
1LossND
RASAL2-
-
-
-
3GainND
RASGRP3p.H260N
Missense
SNP
0.663
3GainND
RASSF5-
-
-
-
3GainND
RBBP5-
-
-
-
3GainND
RBKS-
-
-
-
3GainND
RBM11-
-
-
-
1LossND
RBM34-
-
-
-
3GainND
RBM43-
-
-
-
3GainND
RBM44-
-
-
-
3GainND
RBM8A-
-
-
-
3GainND
RBMS1-
-
-
-
3GainND
RC3H1-
-
-
-
3GainND
RCC2p.R311*
Nonsense
SNP
0.544
2-ND
RCOR3-
-
-
-
3GainND
RCSD1-
-
-
-
3GainND
RD3-
-
-
-
3GainND
RDH14-
-
-
-
3GainND
REEP1-
-
-
-
3GainND
REG1A-
-
-
-
3GainND
REG1B-
-
-
-
3GainND
REG3A-
-
-
-
3GainND
REG3G-
-
-
-
3GainND
REL-
-
-
-
3GainND
REN-
-
-
-
3GainND
RESP18-
-
-
-
3GainND
RETREG2-
-
-
-
3GainND
RETSAT-
-
-
-
3GainND
REV1-
-
-
-
3GainND
RFTN2-
-
-
-
3GainND
RFX5-
-
-
-
3GainND
RFX8-
-
-
-
3GainND
RGL1-
-
-
-
3GainND
RGPD1-
-
-
-
0DelND
RGPD2-
-
-
-
0DelND
RGPD3-
-
-
-
3GainND
RGPD4-
-
-
-
3GainND
RGPD5-
-
-
-
3GainND
RGPD6-
-
-
-
3GainND
RGPD8-
-
-
-
3GainND
RGS1-
-
-
-
4GainND
RGS13-
-
-
-
4GainND
RGS16-
-
-
-
3GainND
RGS18-
-
-
-
4GainND
RGS2-
-
-
-
4GainND
RGS21-
-
-
-
4GainND
RGS4-
-
-
-
3GainND
RGS5-
-
-
-
3GainND
RGS7-
-
-
-
3GainND
RGS8-
-
-
-
3GainND
RGSL1-
-
-
-
3GainND
RHBDD1-
-
-
-
3GainND
RHBG-
-
-
-
3GainND
RHEX-
-
-
-
3GainND
RHOB-
-
-
-
3GainND
RHOQ-
-
-
-
3GainND
RHOU-
-
-
-
3GainND
RIF1-
-
-
-
3GainND
RIIAD1-
-
-
-
3GainND
RIMKLAp.V339I
Missense
SNP
0.493
2-ND
RIT1-
-
-
-
3GainND
RMDN2-
-
-
-
3GainND
RMND5A-
-
-
-
3GainND
RNASEH1-
-
-
-
3GainND
RNASEL-
-
-
-
3GainND
RND3-
-
-
-
3GainND
RNF103-
-
-
-
3GainND
RNF103-CHMP3-
-
-
-
3GainND
RNF115-
-
-
-
3GainND
RNF144A-
-
-
-
3GainND
RNF149-
-
-
-
3GainND
RNF181-
-
-
-
3GainND
RNF187-
-
-
-
3GainND
RNF2-
-
-
-
3GainND
RNF213p.F561S
p.V3414I
Missense
Missense
SNP
SNP
0.488
0.447
2-ND
RNF25-
-
-
-
3GainND
RNPEP-
-
-
-
3GainND
RNPEPL1-
-
-
-
3GainND
ROCK2-
-
-
-
3GainND
RORC-
-
-
-
3GainND
RP11-310K10.1p.R149M
Missense
SNP
0.588
NDNDND
RP11-402P6.15p.S463P
Missense
SNP
0.458
NDNDND
RP11-766F14.2p.K723R
Missense
SNP
0.475
NDNDND
RPE-
-
-
-
3GainND
RPIA-
-
-
-
3GainND
RPL31-
-
-
-
3GainND
RPL37A-
-
-
-
3GainND
RPN1p.I530N
Missense
SNP
0.508
2-ND
RPRD2-
-
-
-
3GainND
RPRM-
-
-
-
3GainND
RPS27-
-
-
-
3GainND
RPS27A-
-
-
-
3GainND
RPS6KA2p.V656I
Missense
SNP
0.448
2-ND
RPS6KC1-
-
-
-
3GainND
RPS7-
-
-
-
3GainND
RPTN-
-
-
-
3GainND
RRM2-
-
-
-
3GainND
RRNAD1-
-
-
-
3GainND
RRP15-
-
-
-
3GainND
RSAD2-
-
-
-
3GainND
RTKN-
-
-
-
3GainND
RTL1p.T33A
Missense
SNP
0.500
2-ND
RTN4-
-
-
-
3GainND
RTP5-
-
-
-
3GainND
RTTNp.M1749I
Missense
SNP
0.423
2-ND
RUFY4-
-
-
-
3GainND
RUSC1-
-
-
-
3GainND
RWDD2B-
-
-
-
1LossND
RXFP4-
-
-
-
3GainND
RXRG-
-
-
-
3GainND
RYR1p.L1154I
Missense
SNP
0.432
2-ND
RYR2-
-
-
-
3GainND
S100A1-
-
-
-
3GainND
S100A10-
-
-
-
3GainND
S100A11-
-
-
-
3GainND
S100A12-
-
-
-
3GainND
S100A13-
-
-
-
3GainND
S100A14-
-
-
-
3GainND
S100A16-
-
-
-
3GainND
S100A2-
-
-
-
3GainND
S100A3-
-
-
-
3GainND
S100A4-
-
-
-
3GainND
S100A5-
-
-
-
3GainND
S100A6-
-
-
-
3GainND
S100A7-
-
-
-
3GainND
S100A7A-
-
-
-
3GainND
S100A7L2-
-
-
-
3GainND
S100A8-
-
-
-
3GainND
S100A9-
-
-
-
3GainND
SAG-
-
-
-
3GainND
SAMD1p.R161H
Missense
SNP
0.446
2-ND
SAMSN1-
-
-
-
1LossND
SAP130-
-
-
-
3GainND
SATB2-
-
-
-
3GainND
SCAF4-
-
-
-
1LossND
SCAMP3-
-
-
-
3GainND
SCART1.
Splice_Site
SNP
0.487
2-ND
SCCPDH-
-
-
-
3GainND
SCG2-
-
-
-
3GainND
SCG3p.I302L
Missense
SNP
0.585
2-ND
SCLY-
-
-
-
3GainND
SCN1A-
-
-
-
3GainND
SCN2A-
-
-
-
3GainND
SCN3A-
-
-
-
3GainND
SCN7A-
-
-
-
3GainND
SCN9A-
-
-
-
3GainND
SCNM1-
-
-
-
3GainND
SCTR-
-
-
-
3GainND
SCYL3-
-
-
-
3GainND
SDC1-
-
-
-
3GainND
SDCCAG8-
-
-
-
3GainND
SDE2-
-
-
-
3GainND
SDHC-
-
-
-
3GainND
SDR39U1p.A46T
Missense
SNP
0.508
2-ND
SEC16B-
-
-
-
3GainND
SEC24Dp.A149T
Missense
SNP
0.407
2-ND
SELE-
-
-
-
3GainND
SELENBP1-
-
-
-
3GainND
SELENOI-
-
-
-
3GainND
SELL-
-
-
-
3GainND
SELP-
-
-
-
3GainND
SEMA3Ep.M681L
Missense
SNP
0.490
2-ND
SEMA4A-
-
-
-
3GainND
SEMA4C-
-
-
-
3GainND
SEMA4F-
-
-
-
3GainND
SEMA6C-
-
-
-
3GainND
SEPT10-
-
-
-
3GainND
SEPT2-
-
-
-
3GainND
SERPINC1-
-
-
-
3GainND
SERPINE2-
-
-
-
3GainND
SERTAD2-
-
-
-
3GainND
SERTAD4-
-
-
-
3GainND
SETDB1-
-
-
-
3GainND
SF3B1-
-
-
-
3GainND
SF3B4-
-
-
-
3GainND
SF3B6-
-
-
-
3GainND
SFT2D2-
-
-
-
3GainND
SFT2D3-
-
-
-
3GainND
SFTPB-
-
-
-
3GainND
SFXN5-
-
-
-
3GainND
SGCDp.V265I
Missense
SNP
0.529
2-ND
SGMS2p.S364L
Missense
SNP
0.492
2-ND
SGO2-
-
-
-
3GainND
SGPP2-
-
-
-
3GainND
SGTAp.G163S
Missense
SNP
0.555
2-ND
SH2D1B-
-
-
-
3GainND
SH2D2A-
-
-
-
3GainND
SH2D6-
-
-
-
3GainND
SH3BP4-
-
-
-
3GainND
SH3BP5L-
-
-
-
3GainND
SH3RF3-
-
-
-
3GainND
SH3YL1-
-
-
-
3GainND
SHC1-
-
-
-
3GainND
SHCBP1L-
-
-
-
3GainND
SHE-
-
-
-
3GainND
SHHp.S436L
Missense
SNP
0.448
2-ND
SHISA4-
-
-
-
3GainND
SHISA5-
-
-
-
1LossND
SIK2p.Q698R
Missense
SNP
0.404
2-ND
SIPA1p.V637M
Missense
SNP
0.521
2-ND
SIPA1L2-
-
-
-
3GainND
SIX2-
-
-
-
3GainND
SIX3-
-
-
-
3GainND
SLAMF1-
-
-
-
3GainND
SLAMF6-
-
-
-
3GainND
SLAMF7-
-
-
-
3GainND
SLAMF8-
-
-
-
3GainND
SLAMF9-
-
-
-
3GainND
SLC11A1-
-
-
-
3GainND
SLC16A14-
-
-
-
3GainND
SLC19A2-
-
-
-
3GainND
SLC19A3-
-
-
-
3GainND
SLC1A4-
-
-
-
3GainND
SLC20A1-
-
-
-
3GainND
SLC23A3-
-
-
-
3GainND
SLC25A21p.G188D
Missense
SNP
0.444
2-ND
SLC25A44-
-
-
-
3GainND
SLC26A9-
-
-
-
3GainND
SLC27A3-
-
-
-
3GainND
SLC30A1-
-
-
-
3GainND
SLC30A10-
-
-
-
3GainND
SLC30A3-
-
-
-
3GainND
SLC30A6-
-
-
-
3GainND
SLC30A7p.G188D
Missense
SNP
0.485
2-ND
SLC35C2p.F71L
Missense
SNP
0.409
2-ND
SLC35F3-
-
-
-
3GainND
SLC35F5-
-
-
-
3GainND
SLC35F6-
-
-
-
3GainND
SLC38A11-
-
-
-
3GainND
SLC39A1-
-
-
-
3GainND
SLC39A10-
-
-
-
3GainND
SLC3A1-
-
-
-
3GainND
SLC40A1-
-
-
-
3GainND
SLC41A1-
-
-
-
3GainND
SLC45A3-
-
-
-
3GainND
SLC4A10-
-
-
-
3GainND
SLC4A1AP-
-
-
-
3GainND
SLC4A3-
-
-
-
3GainND
SLC4A5-
-
-
-
3GainND
SLC50A1-
-
-
-
3GainND
SLC5A6-
-
-
-
3GainND
SLC5A7-
-
-
-
3GainND
SLC6A18p.V89A
Missense
SNP
0.566
2-ND
SLC8A1-
-
-
-
3GainND
SLC9A2-
-
-
-
3GainND
SLC9A4-
-
-
-
3GainND
SLC9A7p.R68Q
Missense
SNP
0.480
NDNDND
SLC9C2-
-
-
-
3GainND
SLITRK1-
-
-
-
3GainND
SLITRK5-
-
-
-
3GainND
SLITRK6-
-
-
-
3GainND
SMARCAL1-
-
-
-
3GainND
SMC6-
-
-
-
3GainND
SMCP-
-
-
-
3GainND
SMG5-
-
-
-
3GainND
SMG7-
-
-
-
3GainND
SMPD4-
-
-
-
3GainND
SMYD1-
-
-
-
3GainND
SMYD2-
-
-
-
3GainND
SMYD3-
-
-
-
3GainND
SMYD5-
-
-
-
3GainND
SNAP47-
-
-
-
3GainND
SNAPIN-
-
-
-
3GainND
SNED1-
-
-
-
3GainND
SNHG28-
-
-
-
3GainND
SNORC-
-
-
-
3GainND
SNRNP200-
-
-
-
3GainND
SNRNP27-
-
-
-
3GainND
SNRPE-
-
-
-
3GainND
SNRPG-
-
-
-
3GainND
SNTG2-
-
-
-
3GainND
SNX17-
-
-
-
3GainND
SNX27-
-
-
-
3GainND
SOAT1-
-
-
-
3GainND
SOCS5-
-
-
-
3GainND
SOD1-
-
-
-
1LossND
SOS1-
-
-
-
3GainND
SOWAHC-
-
-
-
3GainND
SOX11-
-
-
-
3GainND
SOX13-
-
-
-
3GainND
SP100-
-
-
-
3GainND
SP110-
-
-
-
3GainND
SP140-
-
-
-
3GainND
SP140L-
-
-
-
3GainND
SPAG16-
-
-
-
3GainND
SPAST-
-
-
-
3GainND
SPATA17-
-
-
-
3GainND
SPATA3-
-
-
-
3GainND
SPATA45-
-
-
-
3GainND
SPATA46-
-
-
-
3GainND
SPATS2L-
-
-
-
3GainND
SPC25-
-
-
-
3GainND
SPDYA-
-
-
-
3GainND
SPEG-
-
-
-
3GainND
SPG11p.D1947N
Missense
SNP
0.576
2-ND
SPG7p.V191M
Missense
SNP
0.495
2-ND
SPHAR-
-
-
-
3GainND
SPHK2p.R78W
Missense
SNP
0.517
2-ND
SPHKAP-
-
-
-
3GainND
SPOPL-
-
-
-
3GainND
SPP2-
-
-
-
3GainND
SPR-
-
-
-
3GainND
SPRED2-
-
-
-
3GainND
SPRR1A-
-
-
-
3GainND
SPRR1B-
-
-
-
3GainND
SPRR2Fp.C23Y
Missense
SNP
0.381
NDNDND
SPRR3-
-
-
-
3GainND
SPRR4-
-
-
-
3GainND
SPRTN-
-
-
-
3GainND
SPTA1-
-
-
-
3GainND
SPTBN1-
-
-
-
3GainND
SRBD1-
-
-
-
3GainND
SRD5A2-
-
-
-
3GainND
SRGAP2-
-
-
-
3GainND
SRGAP2B-
-
-
-
3GainND
SRP9-
-
-
-
3GainND
SRSF7-
-
-
-
3GainND
SSH1p.Q817*
Nonsense
SNP
0.557
2-ND
SSR2-
-
-
-
3GainND
SSRP1p.W596C
Missense
SNP
0.565
2-ND
ST3GAL3p.R184H
Missense
SNP
0.505
2-ND
ST3GAL5-
-
-
-
3GainND
ST6GAL2p.R77C
Missense
SNP
0.702
3GainND
STAM2-
-
-
-
3GainND
STAMBP-
-
-
-
3GainND
STARD7-
-
-
-
3GainND
STAT1-
-
-
-
3GainND
STAT4-
-
-
-
3GainND
STC1p.Q23*
Nonsense
SNP
0.458
2-ND
STC2p.T220M
Missense
SNP
0.456
2-ND
STEAP3-
-
-
-
3GainND
STK11IP-
-
-
-
3GainND
STK16-
-
-
-
3GainND
STK17B-
-
-
-
3GainND
STK25-
-
-
-
3GainND
STK31p.A547T
Missense
SNP
0.473
2-ND
STK36-
-
-
-
3GainND
STK39-
-
-
-
3GainND
STON1-
-
-
-
3GainND
STON1-GTF2A1L-
-
-
-
3GainND
STPG4-
-
-
-
3GainND
STRADB-
-
-
-
3GainND
STRC-
-
-
-
3GainND
STRN-
-
-
-
3GainND
STUM-
-
-
-
3GainND
STX6-
-
-
-
3GainND
STXBP3p.R545H
Missense
SNP
0.492
2-ND
SUCLG1-
-
-
-
3GainND
SUCO-
-
-
-
3GainND
SULF2p.R281W
Missense
SNP
0.493
2-ND
SULT1C2-
-
-
-
3GainND
SULT1C3-
-
-
-
3GainND
SULT1C4-
-
-
-
3GainND
SULT6B1-
-
-
-
3GainND
SUMO1-
-
-
-
3GainND
SUPT7L-
-
-
-
3GainND
SUSD4-
-
-
-
3GainND
SV2A-
-
-
-
3GainND
SWT1-
-
-
-
3GainND
SYT11-
-
-
-
3GainND
SYT14-
-
-
-
3GainND
SYT2-
-
-
-
3GainND
SZT2p.P1858T
Missense
SNP
0.494
2-ND
TACR1-
-
-
-
3GainND
TADA1-
-
-
-
3GainND
TAF1A-
-
-
-
3GainND
TAF1B-
-
-
-
3GainND
TAF5L-
-
-
-
3GainND
TAGLN2-
-
-
-
3GainND
TANC1-
-
-
-
3GainND
TANK-
-
-
-
3GainND
TAPBPLp.I365N
Missense
SNP
0.444
2-ND
TARBP1-
-
-
-
3GainND
TARS2-
-
-
-
3GainND
TATDN3-
-
-
-
3GainND
TBC1D8-
-
-
-
3GainND
TBCE-
-
-
-
3GainND
TBR1-
-
-
-
3GainND
TBX19-
-
-
-
3GainND
TCF21p.P147S
Missense
SNP
0.581
2-ND
TCF23-
-
-
-
3GainND
TCF7L1p.T565R
Missense
SNP
0.274
3GainND
TCHH-
-
-
-
3GainND
TCHHL1-
-
-
-
3GainND
TDRD1p.F67C
Missense
SNP
0.492
2-ND
TDRD10-
-
-
-
3GainND
TDRD15-
-
-
-
3GainND
TDRD5-
-
-
-
3GainND
TDRD6p.V170I
Missense
SNP
0.489
2-ND
TDRKH-
-
-
-
3GainND
TEDDM1-
-
-
-
3GainND
TEKT4-
-
-
-
3GainND
TET3-
-
-
-
3GainND
TEX261-
-
-
-
3GainND
TEX264p.R203W
Missense
SNP
0.483
2-ND
TEX35-
-
-
-
3GainND
TEX37-
-
-
-
3GainND
TEX44-
-
-
-
3GainND
TEX50-
-
-
-
3GainND
TEX51-
-
-
-
3GainND
TFB2M-
-
-
-
3GainND
TFCP2p.I444F
Missense
SNP
0.502
2-ND
TFCP2L1-
-
-
-
3GainND
TFPI-
-
-
-
3GainND
TGFA-
-
-
-
3GainND
TGFB2-
-
-
-
3GainND
TGFBRAP1-
-
-
-
3GainND
TGOLN2-
-
-
-
3GainND
THADA-
-
-
-
3GainND
THAP4-
-
-
-
3GainND
THBS3-
-
-
-
3GainND
THEM4-
-
-
-
3GainND
THEM5-
-
-
-
3GainND
THNSL2-
-
-
-
3GainND
THSD7B-
-
-
-
3GainND
THUMPD2-
-
-
-
3GainND
TIA1-
-
-
-
3GainND
TIAM1-
-
-
-
1LossND
TIGD1-
-
-
-
3GainND
TIMM17A-
-
-
-
3GainND
TIPRL-
-
-
-
3GainND
TLR5-
-
-
-
3GainND
TLX2-
-
-
-
3GainND
TM4SF20-
-
-
-
3GainND
TMA7-
-
-
-
1LossND
TMBIM1-
-
-
-
3GainND
TMCC2-
-
-
-
3GainND
TMCO1-
-
-
-
3GainND
TMEFF2-
-
-
-
3GainND
TMEM104p.N459K
Missense
SNP
0.417
2-ND
TMEM119p.A205T
Missense
SNP
0.505
2-ND
TMEM127-
-
-
-
3GainND
TMEM131-
-
-
-
3GainND
TMEM132Bp.S885N
Missense
SNP
0.456
2-ND
TMEM150A-
-
-
-
3GainND
TMEM163-
-
-
-
3GainND
TMEM169-
-
-
-
3GainND
TMEM17-
-
-
-
3GainND
TMEM177-
-
-
-
3GainND
TMEM178A-
-
-
-
3GainND
TMEM18-
-
-
-
3GainND
TMEM182-
-
-
-
3GainND
TMEM183A-
-
-
-
3GainND
TMEM185B-
-
-
-
3GainND
TMEM198-
-
-
-
3GainND
TMEM200Ap.P330H
Missense
SNP
0.511
2-ND
TMEM206-
-
-
-
3GainND
TMEM214-
-
-
-
3GainND
TMEM237-
-
-
-
3GainND
TMEM247-
-
-
-
3GainND
TMEM37-
-
-
-
3GainND
TMEM63A-
-
-
-
3GainND
TMEM79-
-
-
-
3GainND
TMEM81-
-
-
-
3GainND
TMEM87B-
-
-
-
3GainND
TMEM9-
-
-
-
3GainND
TMOD4-
-
-
-
3GainND
TMPRSS15-
-
-
-
1LossND
TMSB10-
-
-
-
3GainND
TNFAIP6-
-
-
-
3GainND
TNFAIP8L2-
-
-
-
3GainND
TNFSF18-
-
-
-
3GainND
TNFSF4-
-
-
-
3GainND
TNN-
-
-
-
3GainND
TNNI1-
-
-
-
3GainND
TNNT2-
-
-
-
3GainND
TNP1-
-
-
-
3GainND
TNR-
-
-
-
3GainND
TNS1-
-
-
-
3GainND
TOE1p.R184H
Missense
SNP
0.224
2-ND
TOGARAM2-
-
-
-
3GainND
TOMM20-
-
-
-
3GainND
TOMM40L-
-
-
-
3GainND
TOR1AIP1-
-
-
-
3GainND
TOR1AIP2-
-
-
-
3GainND
TOR3A-
-
-
-
3GainND
TP53BP2-
-
-
-
3GainND
TP53I3-
-
-
-
3GainND
TPM3-
-
-
-
3GainND
TPO-
-
-
-
3GainND
TPP1p.R447S
Missense
SNP
0.500
2-ND
TPR-
-
-
-
3GainND
TPRKB-
-
-
-
3GainND
TRABD2A-
-
-
-
3GainND
TRAF3IP1-
-
-
-
3GainND
TRAF3IP3-
-
-
-
3GainND
TRAF5-
-
-
-
3GainND
TRAK2-
-
-
-
3GainND
TRAPPC10p.X434_splice
Splice_Site
SNP
0.532
2-ND
TRAPPC12-
-
-
-
3GainND
TREX1-
-
-
-
1LossND
TRIB2-
-
-
-
3GainND
TRIM11-
-
-
-
3GainND
TRIM17-
-
-
-
3GainND
TRIM22p.G31D
Missense
SNP
0.466
2-ND
TRIM36p.R82Q
Missense
SNP
0.528
2-ND
TRIM43-
-
-
-
3GainND
TRIM43B-
-
-
-
3GainND
TRIM46-
-
-
-
3GainND
TRIM54-
-
-
-
3GainND
TRIM58-
-
-
-
3GainND
TRIM67-
-
-
-
3GainND
TRIP12-
-
-
-
3GainND
TRMT1L-
-
-
-
3GainND
TRMT61B-
-
-
-
3GainND
TROVE2-
-
-
-
3GainND
TRPM8-
-
-
-
3GainND
TSACC-
-
-
-
3GainND
TSEN15-
-
-
-
3GainND
TSGA10-
-
-
-
3GainND
TSN-
-
-
-
3GainND
TSNAX-
-
-
-
3GainND
TSNAX-DISC1-
-
-
-
3GainND
TSPYL6-
-
-
-
3GainND
TSTD1-
-
-
-
3GainND
TTC13-
-
-
-
3GainND
TTC21B-
-
-
-
3GainND
TTC24-
-
-
-
3GainND
TTC27-
-
-
-
3GainND
TTC31-
-
-
-
3GainND
TTC32-
-
-
-
3GainND
TTC6p.R174Q
Missense
SNP
0.433
2-ND
TTC7A-
-
-
-
3GainND
TTL-
-
-
-
3GainND
TTLL4-
-
-
-
3GainND
TUBA3D-
-
-
-
3GainND
TUBA3E-
-
-
-
3GainND
TUBA4A-
-
-
-
3GainND
TUBA4B-
-
-
-
3GainND
TUFT1-
-
-
-
3GainND
TWIST2-
-
-
-
3GainND
TXNDC9-
-
-
-
3GainND
TXNIP-
-
-
-
3GainND
TYK2p.T1096M
Missense
SNP
0.543
2-ND
TYW5-
-
-
-
3GainND
UAP1-
-
-
-
3GainND
UBAP2L-
-
-
-
3GainND
UBE2F-
-
-
-
3GainND
UBE2F-SCLY-
-
-
-
3GainND
UBE2Q1-
-
-
-
3GainND
UBE2T-
-
-
-
3GainND
UBE2Up.A130V
Missense
SNP
0.473
2-ND
UBQLN4-
-
-
-
3GainND
UBXN2A-
-
-
-
3GainND
UBXN4-
-
-
-
3GainND
UCHL5-
-
-
-
3GainND
UCK2-
-
-
-
3GainND
UCN-
-
-
-
3GainND
UFC1-
-
-
-
3GainND
UGGT1-
-
-
-
3GainND
UGP2-
-
-
-
3GainND
UGT2B4p.V393I
Missense
SNP
0.445
2-ND
UHMK1-
-
-
-
3GainND
ULK3p.A114V
Missense
SNP
0.542
2-ND
UNC50-
-
-
-
3GainND
UNC80p.P320L
Missense
SNP
0.696
3GainND
UPK3BL1-
-
-
-
1LossND
UPP2-
-
-
-
3GainND
URB2-
-
-
-
3GainND
USF1-
-
-
-
3GainND
USH2A-
-
-
-
3GainND
USP16-
-
-
-
1LossND
USP21-
-
-
-
3GainND
USP25-
-
-
-
1LossND
USP34-
-
-
-
3GainND
USP36p.K408N
Missense
SNP
0.506
2-ND
USP37-
-
-
-
3GainND
USP39-
-
-
-
3GainND
USP40-
-
-
-
3GainND
USP9Xp.R742Q
Missense
SNP
0.444
NDNDND
UTP25-
-
-
-
3GainND
UXS1-
-
-
-
3GainND
VAMP4-
-
-
-
3GainND
VAMP5-
-
-
-
3GainND
VAMP8-
-
-
-
3GainND
VANGL2-
-
-
-
3GainND
VARS2p.G967E
Missense
SNP
0.459
2-ND
VASH2-
-
-
-
3GainND
VAX2-
-
-
-
3GainND
VHLL-
-
-
-
3GainND
VIL1-
-
-
-
3GainND
VIT-
-
-
-
3GainND
VPS45-
-
-
-
3GainND
VPS54-
-
-
-
3GainND
VPS72-
-
-
-
3GainND
VRK2-
-
-
-
3GainND
VSIG8-
-
-
-
3GainND
VSNL1-
-
-
-
3GainND
VSTM2Bp.V117M
Missense
SNP
0.539
2-ND
VSTM2Lp.R26W
Missense
SNP
0.542
2-ND
VSX1-
-
-
-
1LossND
VWA3Bp.T439M
Missense
SNP
0.500
3GainND
VWC2L-
-
-
-
3GainND
WBP1-
-
-
-
3GainND
WDCP-
-
-
-
3GainND
WDFY1-
-
-
-
3GainND
WDFY4p.S2425F
Missense
SNP
0.486
2-ND
WDPCP-
-
-
-
3GainND
WDR12-
-
-
-
3GainND
WDR13p.C200Y
Missense
SNP
0.436
NDNDND
WDR26-
-
-
-
3GainND
WDR33-
-
-
-
3GainND
WDR35-
-
-
-
3GainND
WDR43-
-
-
-
3GainND
WDR54-
-
-
-
3GainND
WDR60p.E238Q
Missense
SNP
0.408
2-ND
WDR64-
-
-
-
3GainND
WDR75-
-
-
-
3GainND
WDR76p.L246M
Missense
SNP
0.592
2-ND
WDR92-
-
-
-
3GainND
WDSUB1-
-
-
-
3GainND
WEE1p.R481H
Missense
SNP
0.485
2-ND
WFDC2p.V120A
Missense
SNP
0.435
2-ND
WNT10A-
-
-
-
3GainND
WNT3A-
-
-
-
3GainND
WNT6-
-
-
-
3GainND
WNT9A-
-
-
-
3GainND
WWP1p.X834_splice
Splice_Site
SNP
0.409
2-ND
XCL1-
-
-
-
3GainND
XCL2-
-
-
-
3GainND
XDH-
-
-
-
3GainND
XIRP2-
-
-
-
3GainND
XPO1-
-
-
-
3GainND
XPR1-
-
-
-
3GainND
XRCC5-
-
-
-
3GainND
XXbac-BPG116M5.17p.I141V
Missense
SNP
0.525
NDNDND
YIPF4-
-
-
-
3GainND
YOD1-
-
-
-
3GainND
YPEL5-
-
-
-
3GainND
YWHAQ-
-
-
-
3GainND
YY1AP1-
-
-
-
3GainND
ZAP70-
-
-
-
3GainND
ZBED6-
-
-
-
3GainND
ZBTB18-
-
-
-
3GainND
ZBTB37-
-
-
-
3GainND
ZBTB41-
-
-
-
3GainND
ZBTB46p.T66M
Missense
SNP
0.505
2-ND
ZBTB7B-
-
-
-
3GainND
ZBTB9p.R246H
Missense
SNP
0.475
2-ND
ZC3H11A-
-
-
-
3GainND
ZC3H15-
-
-
-
3GainND
ZC3H6-
-
-
-
3GainND
ZC3H8-
-
-
-
3GainND
ZDBF2-
-
-
-
3GainND
ZEB2-
-
-
-
3GainND
ZFAND2B-
-
-
-
3GainND
ZFHX4p.R2657*
Nonsense
SNP
0.472
2-ND
ZFP36L2-
-
-
-
3GainND
ZFYVE16p.T213P
Missense
SNP
0.462
2-ND
ZNF124-
-
-
-
3GainND
ZNF142-
-
-
-
3GainND
ZNF2-
-
-
-
3GainND
ZNF281-
-
-
-
3GainND
ZNF341p.A538T
Missense
SNP
0.527
2-ND
ZNF462p.K2004N
Missense
SNP
0.500
2-ND
ZNF496-
-
-
-
3GainND
ZNF512-
-
-
-
3GainND
ZNF513-
-
-
-
3GainND
ZNF514-
-
-
-
3GainND
ZNF536p.D119N
Missense
SNP
0.513
2-ND
ZNF556p.R247H
Missense
SNP
0.513
2-ND
ZNF638-
-
-
-
3GainND
ZNF648-
-
-
-
3GainND
ZNF669-
-
-
-
3GainND
ZNF670p.R264H
Missense
SNP
0.542
3GainND
ZNF670-ZNF695-
-
-
-
3GainND
ZNF672-
-
-
-
3GainND
ZNF678-
-
-
-
3GainND
ZNF682p.A293V
Missense
SNP
0.486
2-ND
ZNF687-
-
-
-
3GainND
ZNF692-
-
-
-
3GainND
ZNF695-
-
-
-
3GainND
ZNF804A-
-
-
-
3GainND
ZP4-
-
-
-
3GainND
ZRANB3-
-
-
-
3GainND
ZSWIM2-
-
-
-
3GainND