PDMR-327498~153-R~HPXF72-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
3GainND
A2ML1-
-
-
-
3GainND
AATKp.L475P
Missense
SNP
0.465
2-ND
ABCB10-
-
-
-
3GainND
ABCC10p.P1257S
Missense
SNP
0.492
2-ND
ABCC9-
-
-
-
3GainND
ABHD11p.A147V
Missense
SNP
0.160
2-ND
ABL2-
-
-
-
3GainND
AC005832.4-
-
-
-
3GainND
AC005833.1-
-
-
-
3GainND
AC006064.6-
-
-
-
3GainND
AC006518.7-
-
-
-
3GainND
AC008012.1-
-
-
-
3GainND
AC010197.2-
-
-
-
3GainND
AC011604.2-
-
-
-
3GainND
AC022335.1-
-
-
-
3GainND
AC068775.1-
-
-
-
3GainND
AC092017.3-
-
-
-
3GainND
AC092111.3-
-
-
-
3GainND
AC114783.1p.Q188R
Missense
SNP
0.404
NDNDND
AC118470.1-
-
-
-
3GainND
AC243547.3-
-
-
-
3GainND
ACBD3-
-
-
-
3GainND
ACBD6-
-
-
-
3GainND
ACKR1-
-
-
-
3GainND
ACP6-
-
-
-
3GainND
ACRBP-
-
-
-
3GainND
ACSM4-
-
-
-
3GainND
ACTA1-
-
-
-
3GainND
ACTN2-
-
-
-
3GainND
ADAM15-
-
-
-
3GainND
ADAMTS4-
-
-
-
3GainND
ADAMTSL4-
-
-
-
3GainND
ADAR-
-
-
-
3GainND
ADCY10-
-
-
-
3GainND
ADIPOR1-
-
-
-
3GainND
ADIPOR2-
-
-
-
3GainND
ADORA1-
-
-
-
3GainND
ADSS-
-
-
-
3GainND
AEBP1p.R268L
Missense
SNP
0.482
2-ND
AEBP2-
-
-
-
3GainND
AGRNp.A1325T
Missense
SNP
0.476
2-ND
AGT-
-
-
-
3GainND
AHCTF1-
-
-
-
3GainND
AICDA-
-
-
-
3GainND
AIDA-
-
-
-
3GainND
AIM2-
-
-
-
3GainND
AKAP3-
-
-
-
3GainND
AKT3-
-
-
-
3GainND
AL117348.2-
-
-
-
3GainND
AL139011.2-
-
-
-
3GainND
AL139142.2-
-
-
-
3GainND
AL358472.6-
-
-
-
3GainND
AL358472.7-
-
-
-
3GainND
AL512785.2-
-
-
-
3GainND
AL590132.1-
-
-
-
3GainND
AL591806.3-
-
-
-
3GainND
AL691442.1-
-
-
-
3GainND
AL713999.1-
-
-
-
3GainND
ALDH9A1-
-
-
-
3GainND
ALG10-
-
-
-
3GainND
AMN1-
-
-
-
3GainND
ANGEL2-
-
-
-
3GainND
ANGPTL1-
-
-
-
3GainND
ANK2p.E169D
Missense
SNP
0.489
2-ND
ANKRD18Bp.G294R
Missense
SNP
0.128
2-ND
ANKRD34A-
-
-
-
3GainND
ANKRD35-
-
-
-
3GainND
ANKRD45-
-
-
-
3GainND
ANO2-
-
-
-
3GainND
ANP32E-
-
-
-
3GainND
ANXA9-
-
-
-
3GainND
APAF1p.R434H
Missense
SNP
0.333
2-ND
APCS-
-
-
-
3GainND
APH1A-
-
-
-
3GainND
APOA2-
-
-
-
3GainND
APOBEC1-
-
-
-
3GainND
APOBEC4-
-
-
-
3GainND
APOLD1-
-
-
-
3GainND
AQP10-
-
-
-
3GainND
ARF1-
-
-
-
3GainND
ARHGAP30-
-
-
-
3GainND
ARHGDIB-
-
-
-
3GainND
ARHGEF1p.S801R
Missense
SNP
0.463
2-ND
ARHGEF11-
-
-
-
3GainND
ARHGEF2-
-
-
-
3GainND
ARHGEF5-
-
-
-
1LossND
ARID1Bp.T1533I
Missense
SNP
0.457
2-ND
ARID4B-
-
-
-
3GainND
ARL8A-
-
-
-
3GainND
ARMC2p.A512T
Missense
SNP
0.500
2-ND
ARNT-
-
-
-
3GainND
ARNTL2-
-
-
-
3GainND
ARPC4p.V31M
Missense
SNP
0.460
2-ND
ARPC5-
-
-
-
3GainND
ARSDp.H367Y
Missense
SNP
0.545
NDNDND
ARSKp.G496*
Nonsense
SNP
0.475
2-ND
ART4-
-
-
-
3GainND
ARV1-
-
-
-
3GainND
ASH1L-
-
-
-
3GainND
ASPM-
-
-
-
3GainND
ASTN1-
-
-
-
3GainND
ATF3-
-
-
-
3GainND
ATF6-
-
-
-
3GainND
ATF7IP-
-
-
-
3GainND
ATN1-
-
-
-
3GainND
ATP1A2-
-
-
-
3GainND
ATP1A4-
-
-
-
3GainND
ATP1B1-
-
-
-
3GainND
ATP2B4-
-
-
-
3GainND
ATP6V1G3-
-
-
-
3GainND
ATP8B2-
-
-
-
3GainND
ATXN7L2p.X234_splice
Splice_Site
SNP
0.506
2-ND
AVPR1B-
-
-
-
3GainND
AXDND1-
-
-
-
3GainND
B3GALNT2-
-
-
-
3GainND
B3GALT2-
-
-
-
3GainND
B4GALNT3-
-
-
-
3GainND
B4GALT3-
-
-
-
3GainND
BATF3-
-
-
-
3GainND
BCAN-
-
-
-
3GainND
BCAT1-
-
-
-
3GainND
BCL2L14-
-
-
-
3GainND
BCL9-
-
-
-
3GainND
BCORp.N1459S
Missense
SNP
0.553
NDNDND
BGLAP-
-
-
-
3GainND
BHLHE41-
-
-
-
3GainND
BICD1-
-
-
-
3GainND
BLZF1-
-
-
-
3GainND
BMP10p.T53A
Missense
SNP
0.472
2-ND
BNIPL-
-
-
-
3GainND
BOLA1-
-
-
-
3GainND
BORCS5-
-
-
-
3GainND
BPNT1-
-
-
-
3GainND
BRCA2p.S278N
Missense
SNP
0.462
2-ND
BRINP2-
-
-
-
3GainND
BRINP3-
-
-
-
5AmpND
BROX-
-
-
-
3GainND
BRSK2p.C70*
Nonsense
SNP
0.458
2-ND
BTG2-
-
-
-
3GainND
BTNL3p.P299L
Missense
SNP
0.400
2-ND
C10orf76p.Y643C
Missense
SNP
0.401
NDNDND
C12orf4-
-
-
-
3GainND
C12orf57-
-
-
-
3GainND
C12orf60-
-
-
-
3GainND
C12orf71-
-
-
-
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
C1orf68-
-
-
-
3GainND
C1orf74-
-
-
-
3GainND
C1R-
-
-
-
3GainND
C1RL-
-
-
-
3GainND
C1S-
-
-
-
3GainND
C2CD4D-
-
-
-
3GainND
C2CD5-
-
-
-
3GainND
C3AR1-
-
-
-
3GainND
C4A-
-
-
-
1LossND
C4B-
-
-
-
1LossND
C4BPA-
-
-
-
3GainND
C4BPB-
-
-
-
3GainND
CA14-
-
-
-
3GainND
CA3p.A162V
Missense
SNP
0.390
2-ND
CAB39p.I101T
Missense
SNP
0.427
2-ND
CACNA1C-
-
-
-
3GainND
CACNA1E-
-
-
-
3GainND
CACNA1S-
-
-
-
3GainND
CACNA2D4-
-
-
-
3GainND
CACYBP-
-
-
-
3GainND
CADM3-
-
-
-
3GainND
CALHM3p.T304M
Missense
SNP
0.414
2-ND
CAMK1G-
-
-
-
3GainND
CAMSAP2-
-
-
-
3GainND
CAND2p.R431H
Missense
SNP
0.458
2-ND
CAPN2-
-
-
-
3GainND
CAPN8-
-
-
-
3GainND
CAPN9-
-
-
-
3GainND
CAPRIN2-
-
-
-
3GainND
CAPZA3-
-
-
-
3GainND
CASC1-
-
-
-
3GainND
CASQ1-
-
-
-
3GainND
CASRp.A86V
Missense
SNP
0.502
2-ND
CATSPERE-
-
-
-
3GainND
CCDC175-
-
-
-
1LossND
CCDC181-
-
-
-
3GainND
CCDC185-
-
-
-
3GainND
CCDC190-
-
-
-
3GainND
CCDC77-
-
-
-
3GainND
CCDC91-
-
-
-
3GainND
CCND1p.T286A
Missense
SNP
0.500
2-ND
CCND2-
-
-
-
3GainND
CCSAP-
-
-
-
3GainND
CCT3-
-
-
-
3GainND
CD160-
-
-
-
3GainND
CD163-
-
-
-
3GainND
CD163L1-
-
-
-
3GainND
CD1A-
-
-
-
3GainND
CD1B-
-
-
-
3GainND
CD1C-
-
-
-
3GainND
CD1D-
-
-
-
3GainND
CD1E-
-
-
-
3GainND
CD244-
-
-
-
3GainND
CD247-
-
-
-
3GainND
CD27-
-
-
-
3GainND
CD34-
-
-
-
3GainND
CD4-
-
-
-
3GainND
CD46-
-
-
-
3GainND
CD48-
-
-
-
3GainND
CD55-
-
-
-
3GainND
CD5L-
-
-
-
3GainND
CD69-
-
-
-
3GainND
CD84-
-
-
-
3GainND
CD9-
-
-
-
3GainND
CDC42BPA-
-
-
-
3GainND
CDC42SE1-
-
-
-
3GainND
CDC73-
-
-
-
3GainND
CDCA3-
-
-
-
3GainND
CDK18-
-
-
-
3GainND
CDKN1B-
-
-
-
3GainND
CELF3-
-
-
-
3GainND
CEMIPp.R901Q
Missense
SNP
0.500
2-ND
CENPF-
-
-
-
3GainND
CENPL-
-
-
-
3GainND
CEP170-
-
-
-
3GainND
CEP350-
-
-
-
3GainND
CERS2-
-
-
-
3GainND
CES1p.K385R
Missense
SNP
0.615
2-ND
CFAP126-
-
-
-
3GainND
CFAP45-
-
-
-
3GainND
CFH-
-
-
-
3GainND
CFHR1-
-
-
-
3GainND
CFHR2-
-
-
-
3GainND
CFHR3-
-
-
-
3GainND
CFHR4-
-
-
-
3GainND
CFHR5-
-
-
-
3GainND
CGN-
-
-
-
3GainND
CHD1L-
-
-
-
3GainND
CHD4-
-
-
-
3GainND
CHI3L1-
-
-
-
3GainND
CHIT1-
-
-
-
3GainND
CHML-
-
-
-
3GainND
CHRM3-
-
-
-
3GainND
CHRNB2-
-
-
-
3GainND
CHTOP-
-
-
-
3GainND
CIART-
-
-
-
3GainND
CKMp.G149D
Missense
SNP
0.542
2-ND
CKS1B-
-
-
-
3GainND
CLDND2p.F139L
Missense
SNP
0.443
2-ND
CLEC12A-
-
-
-
3GainND
CLEC12B-
-
-
-
3GainND
CLEC1A-
-
-
-
3GainND
CLEC1B-
-
-
-
3GainND
CLEC2A-
-
-
-
3GainND
CLEC2B-
-
-
-
3GainND
CLEC2D-
-
-
-
3GainND
CLEC4A-
-
-
-
3GainND
CLEC4C-
-
-
-
3GainND
CLEC4D-
-
-
-
3GainND
CLEC4E-
-
-
-
3GainND
CLEC6A-
-
-
-
3GainND
CLEC7A-
-
-
-
3GainND
CLEC9A-
-
-
-
3GainND
CLECL1-
-
-
-
3GainND
CLK2-
-
-
-
3GainND
CLSTN3-
-
-
-
3GainND
CMAS-
-
-
-
3GainND
CNGA4p.E556D
Missense
SNP
0.413
2-ND
CNIH3-
-
-
-
3GainND
CNIH4-
-
-
-
3GainND
CNST-
-
-
-
3GainND
CNTN2-
-
-
-
3GainND
CNTNAP2-
-
-
-
3GainND
CNTNAP4p.P555S
Missense
SNP
0.371
2-ND
COA6-
-
-
-
3GainND
COG2-
-
-
-
3GainND
COL12A1p.P1588H
Missense
SNP
0.509
2-ND
COL4A5p.P554L
Missense
SNP
0.504
NDNDND
COLGALT2-
-
-
-
3GainND
COP1-
-
-
-
3GainND
COPA-
-
-
-
3GainND
COPS7A-
-
-
-
3GainND
COQ8A-
-
-
-
3GainND
COX20-
-
-
-
3GainND
CR1-
-
-
-
3GainND
CR1L-
-
-
-
3GainND
CR2-
-
-
-
3GainND
CRABP2-
-
-
-
3GainND
CRACR2A-
-
-
-
3GainND
CRB1-
-
-
-
3GainND
CRCT1-
-
-
-
3GainND
CREB3L4-
-
-
-
3GainND
CREBL2-
-
-
-
3GainND
CREG1-
-
-
-
3GainND
CRMP1p.G79R
Missense
SNP
0.599
2-ND
CRNN-
-
-
-
3GainND
CRP-
-
-
-
3GainND
CRTC2-
-
-
-
3GainND
CSMD3-
-
-
-
3GainND
CSRP1-
-
-
-
3GainND
CTAGE8-
-
-
-
1LossND
CTIFp.P117L
Missense
SNP
0.100
2-ND
CTSE-
-
-
-
3GainND
CTSK-
-
-
-
3GainND
CTSS-
-
-
-
3GainND
CUL4Bp.R614C
Missense
SNP
0.528
NDNDND
CYB5R1-
-
-
-
3GainND
CYP21A2-
-
-
-
1LossND
CYP26A1p.R418Q
Missense
SNP
0.468
2-ND
CYP2C9p.P471Q
Missense
SNP
0.513
2-ND
DAP3-
-
-
-
3GainND
DARS2-
-
-
-
3GainND
DCAF6-
-
-
-
3GainND
DCAF8-
-
-
-
3GainND
DCLRE1Ap.P289S
Missense
SNP
0.471
2-ND
DCP1B-
-
-
-
3GainND
DCPSp.T316M
Missense
SNP
0.562
2-ND
DCST1-
-
-
-
3GainND
DCST2-
-
-
-
3GainND
DCUN1D5p.T236I
Missense
SNP
0.447
2-ND
DDR2-
-
-
-
3GainND
DDX11-
-
-
-
3GainND
DDX47-
-
-
-
3GainND
DDX53p.R398C
Missense
SNP
0.418
NDNDND
DDX59-
-
-
-
3GainND
DEDD-
-
-
-
3GainND
DEGS1-
-
-
-
3GainND
DENND1B-
-
-
-
3GainND
DENND4B-
-
-
-
3GainND
DENND5B-
-
-
-
3GainND
DEPDC1p.A548V
Missense
SNP
0.512
2-ND
DERA-
-
-
-
3GainND
DESI2-
-
-
-
3GainND
DHX9-
-
-
-
3GainND
DIAPH1p.L1261I
Missense
SNP
0.125
2-ND
DISC1-
-
-
-
3GainND
DISP1-
-
-
-
3GainND
DLATp.V355A
Missense
SNP
0.543
2-ND
DNAH14p.A3009V
Missense
SNP
0.314
3GainND
DNAH8p.G2570D
Missense
SNP
0.423
2-ND
DNAH9p.A3363V
Missense
SNP
0.500
2-ND
DNM1L-
-
-
-
3GainND
DNM3-
-
-
-
3GainND
DOCK2-
-
-
-
1LossND
DPM3-
-
-
-
3GainND
DPPA3-
-
-
-
3GainND
DPT-
-
-
-
3GainND
DSTYK-
-
-
-
3GainND
DTL-
-
-
-
3GainND
DUSP10-
-
-
-
3GainND
DUSP12-
-
-
-
3GainND
DUSP16-
-
-
-
3GainND
DUSP23-
-
-
-
3GainND
DUSP27-
-
-
-
3GainND
DYRK3-
-
-
-
3GainND
DYRK4-
-
-
-
3GainND
ECM1-
-
-
-
3GainND
EDARADD-
-
-
-
3GainND
EDEM3-
-
-
-
3GainND
EFCAB2-
-
-
-
3GainND
EFNA1-
-
-
-
3GainND
EFNA3-
-
-
-
3GainND
EFNA4-
-
-
-
3GainND
EGLN1-
-
-
-
3GainND
EIF1p.V98L
Missense
SNP
0.382
2-ND
EIF2AK1p.I240N
Missense
SNP
0.443
2-ND
EIF2D-
-
-
-
3GainND
EIF2S3B-
-
-
-
3GainND
ELF3-
-
-
-
3GainND
ELK4-
-
-
-
3GainND
EMG1-
-
-
-
3GainND
EMP1-
-
-
-
3GainND
ENAH-
-
-
-
3GainND
ENO2-
-
-
-
3GainND
ENPP3p.H209Y
Missense
SNP
0.482
2-ND
ENSA-
-
-
-
3GainND
EPHX1-
-
-
-
3GainND
EPRS-
-
-
-
3GainND
EPS15p.I289V
Missense
SNP
0.544
2-ND
EPS8-
-
-
-
3GainND
ERC1-
-
-
-
3GainND
ERGIC2-
-
-
-
3GainND
ERMARDp.L422R
Missense
SNP
0.539
2-ND
ERN1p.D421G
Missense
SNP
0.476
2-ND
ERO1B-
-
-
-
3GainND
ERP27-
-
-
-
3GainND
ESRRGp.S50N
Missense
SNP
0.282
3GainND
ETFBKMT-
-
-
-
3GainND
ETFRF1-
-
-
-
3GainND
ETNK1-
-
-
-
3GainND
ETNK2-
-
-
-
3GainND
ETV3p.R149W
Missense
SNP
0.676
3GainND
ETV3L-
-
-
-
3GainND
ETV6-
-
-
-
3GainND
EXD1p.P450L
Missense
SNP
0.480
2-ND
EXO1-
-
-
-
3GainND
EXOC8-
-
-
-
3GainND
F11R-
-
-
-
3GainND
F13B-
-
-
-
3GainND
F5-
-
-
-
3GainND
FADDp.E130K
Missense
SNP
0.511
2-ND
FAM129A-
-
-
-
3GainND
FAM163A-
-
-
-
3GainND
FAM171A1p.V769I
Missense
SNP
0.451
2-ND
FAM177B-
-
-
-
3GainND
FAM184Bp.L814F
Missense
SNP
0.560
2-ND
FAM189B-
-
-
-
3GainND
FAM20B-
-
-
-
3GainND
FAM234B-
-
-
-
3GainND
FAM71A-
-
-
-
3GainND
FAM78B-
-
-
-
3GainND
FAM89A-
-
-
-
3GainND
FAR2-
-
-
-
3GainND
FASLG-
-
-
-
3GainND
FBXL14-
-
-
-
3GainND
FBXO28-
-
-
-
3GainND
FBXO30p.C18Y
Missense
SNP
0.493
2-ND
FBXO46p.C306R
Missense
SNP
0.460
2-ND
FCAMR-
-
-
-
3GainND
FCAR-
-
-
-
1LossND
FCER1A-
-
-
-
3GainND
FCER1G-
-
-
-
3GainND
FCGR1A-
-
-
-
3GainND
FCGR2A-
-
-
-
3GainND
FCGR2B-
-
-
-
3GainND
FCGR2C-
-
-
-
3GainND
FCGR3A-
-
-
-
6AmpND
FCGR3B-
-
-
-
3GainND
FCHSD1p.Q55*
Nonsense
SNP
0.190
2-ND
FCMR-
-
-
-
3GainND
FCRL1p.R286H
Missense
SNP
0.326
3GainND
FCRL2-
-
-
-
3GainND
FCRL3-
-
-
-
3GainND
FCRL4-
-
-
-
3GainND
FCRL5-
-
-
-
3GainND
FCRL6-
-
-
-
3GainND
FCRLA-
-
-
-
3GainND
FCRLB-
-
-
-
3GainND
FDPS-
-
-
-
3GainND
FGD4-
-
-
-
3GainND
FGF20p.G18D
Missense
SNP
0.491
2-ND
FGF23-
-
-
-
3GainND
FGF6-
-
-
-
3GainND
FGFR1OP2-
-
-
-
3GainND
FH-
-
-
-
3GainND
FHOD3p.R1238*
Nonsense
SNP
0.632
2-ND
FIS1p.K151R
Missense
SNP
0.457
2-ND
FKBP4-
-
-
-
3GainND
FLAD1-
-
-
-
3GainND
FLG-
-
-
-
3GainND
FLG2-
-
-
-
3GainND
FLRT2-
-
-
-
3GainND
FLVCR1-
-
-
-
3GainND
FMN2-
-
-
-
3GainND
FMO1-
-
-
-
3GainND
FMO2-
-
-
-
3GainND
FMO3-
-
-
-
3GainND
FMO4-
-
-
-
3GainND
FMO5-
-
-
-
3GainND
FMOD-
-
-
-
3GainND
FOXJ2-
-
-
-
3GainND
FOXM1-
-
-
-
3GainND
FREM2p.E1972D
Missense
SNP
0.484
2-ND
FSIP2p.P561H
Missense
SNP
0.408
2-ND
FUBP3p.D399N
Missense
SNP
0.497
2-ND
FZD10p.T310M
Missense
SNP
0.524
2-ND
G0S2-
-
-
-
3GainND
GABARAPL1p.G92D
Missense
SNP
0.255
3GainND
GABPB2-
-
-
-
3GainND
GALNT2-
-
-
-
3GainND
GALNT8-
-
-
-
3GainND
GAPDH-
-
-
-
3GainND
GATAD2B-
-
-
-
3GainND
GBA-
-
-
-
3GainND
GCSAML-
-
-
-
3GainND
GCSAML-AS1-
-
-
-
3GainND
GCSHp.L145S
Missense
SNP
0.577
2-ND
GDF3-
-
-
-
3GainND
GGA1p.R80L
Missense
SNP
0.107
2-ND
GGPS1-
-
-
-
3GainND
GJA5-
-
-
-
3GainND
GJA8-
-
-
-
3GainND
GJC2-
-
-
-
3GainND
GLMP-
-
-
-
3GainND
GLRA4p.R106H
Missense
SNP
0.436
NDNDND
GLRX2-
-
-
-
3GainND
GLT8D1-
-
-
-
3GainND
GLUL-
-
-
-
3GainND
GNAO1p.R86L
Missense
SNP
0.421
2-ND
GNB3-
-
-
-
3GainND
GNG11p.L4I
Missense
SNP
0.458
2-ND
GNG4-
-
-
-
3GainND
GNL3-
-
-
-
3GainND
GNPAT-
-
-
-
3GainND
GNPTGp.X18_splice
Splice_Site
SNP
0.512
2-ND
GOLPH3L-
-
-
-
3GainND
GOLT1A-
-
-
-
3GainND
GOLT1B-
-
-
-
3GainND
GON4L-
-
-
-
3GainND
GORAB-
-
-
-
3GainND
GPA33-
-
-
-
3GainND
GPATCH2-
-
-
-
3GainND
GPATCH4-
-
-
-
3GainND
GPR135-
-
-
-
1LossND
GPR137B-
-
-
-
3GainND
GPR161-
-
-
-
3GainND
GPR162-
-
-
-
3GainND
GPR19-
-
-
-
3GainND
GPR25-
-
-
-
3GainND
GPR31p.F235Y
Missense
SNP
0.457
2-ND
GPR37L1-
-
-
-
3GainND
GPR52-
-
-
-
3GainND
GPR89A-
-
-
-
3GainND
GPR89B-
-
-
-
3GainND
GPRC5A-
-
-
-
3GainND
GPRC5D-
-
-
-
3GainND
GREM2-
-
-
-
3GainND
GRID1p.V192I
Missense
SNP
0.525
2-ND
GRIN2B-
-
-
-
3GainND
GRIN3Bp.R862H
Missense
SNP
0.474
2-ND
GRK6p.L238M
Missense
SNP
0.488
2-ND
GRM1p.G539R
Missense
SNP
0.490
2-ND
GSG1-
-
-
-
3GainND
GSG1L2p.I292V
Missense
SNP
0.524
2-ND
GUCY2C-
-
-
-
3GainND
GUK1-
-
-
-
3GainND
GYS2p.A177V
Missense
SNP
0.338
3GainND
H2AFJ-
-
-
-
3GainND
H3F3A-
-
-
-
3GainND
H3F3C-
-
-
-
3GainND
HAPLN2-
-
-
-
3GainND
HAX1-
-
-
-
3GainND
HCN3-
-
-
-
3GainND
HDGF-
-
-
-
3GainND
HEATR1p.A937V
Missense
SNP
0.280
3GainND
HEBP1-
-
-
-
3GainND
HHAT-
-
-
-
3GainND
HHIPL2-
-
-
-
3GainND
HIPK4p.A310T
Missense
SNP
0.463
2-ND
HIST1H4Gp.R4W
Missense
SNP
0.406
2-ND
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
HIST3H3p.P39L
Missense
SNP
0.265
3GainND
HIST4H4-
-
-
-
3GainND
HJV-
-
-
-
3GainND
HKR1p.S538P
Missense
SNP
0.471
2-ND
HLX-
-
-
-
3GainND
HMCN1p.R3978Q
Missense
SNP
0.341
3GainND
HNRNPU-
-
-
-
3GainND
HORMAD1-
-
-
-
3GainND
HRNR-
-
-
-
3GainND
HSD11B1-
-
-
-
3GainND
HSD17B7-
-
-
-
3GainND
HSPA6-
-
-
-
6AmpND
HSPB9p.S144C
Missense
SNP
0.487
2-ND
HTR3Cp.L318M
Missense
SNP
0.473
2-ND
IAPP-
-
-
-
3GainND
IARS2-
-
-
-
3GainND
IBA57-
-
-
-
3GainND
IER5-
-
-
-
3GainND
IFFO1-
-
-
-
3GainND
IFI16-
-
-
-
3GainND
IGDCC3p.A620S
Missense
SNP
0.467
2-ND
IGFN1-
-
-
-
3GainND
IGSF8-
-
-
-
3GainND
IGSF9p.H555N
Missense
SNP
0.404
3GainND
IKBKE-
-
-
-
3GainND
IL10-
-
-
-
3GainND
IL19-
-
-
-
3GainND
IL20-
-
-
-
3GainND
IL24-
-
-
-
3GainND
IL6R-
-
-
-
3GainND
ILDR2-
-
-
-
3GainND
ILF2-
-
-
-
3GainND
INAVA-
-
-
-
3GainND
ING4-
-
-
-
3GainND
INPP5Ap.R343Q
Missense
SNP
0.425
2-ND
INSRR-
-
-
-
3GainND
INSYN2B-
-
-
-
1LossND
INTS10p.S2T
Missense
SNP
0.565
2-ND
INTS13-
-
-
-
3GainND
INTS3-
-
-
-
3GainND
INTS6Lp.C351R
Missense
SNP
0.504
NDNDND
INTS7-
-
-
-
3GainND
IPO8-
-
-
-
3GainND
IPO9-
-
-
-
3GainND
IQGAP3-
-
-
-
3GainND
IQSEC3-
-
-
-
3GainND
IRF2BP2-
-
-
-
3GainND
IRF6-
-
-
-
3GainND
ISG20L2-
-
-
-
3GainND
ITFG2-
-
-
-
3GainND
ITGA10-
-
-
-
3GainND
ITLN1-
-
-
-
3GainND
ITLN2-
-
-
-
3GainND
ITPKB-
-
-
-
3GainND
ITPR2-
-
-
-
3GainND
IVL-
-
-
-
3GainND
IVNS1ABP-
-
-
-
3GainND
JAKMIP3p.A164T
Missense
SNP
0.477
2-ND
JKAMP-
-
-
-
1LossND
JMJD4-
-
-
-
3GainND
JTB-
-
-
-
3GainND
KANK2-
-
-
-
3GainND
KCNA1-
-
-
-
3GainND
KCNA5-
-
-
-
3GainND
KCNA6-
-
-
-
3GainND
KCNAB2p.R162L
Missense
SNP
0.574
2-ND
KCND2p.I336N
Missense
SNP
0.514
2-ND
KCNH1-
-
-
-
3GainND
KCNH7p.R699H
Missense
SNP
0.462
2-ND
KCNJ10-
-
-
-
3GainND
KCNJ8-
-
-
-
3GainND
KCNJ9-
-
-
-
3GainND
KCNK1-
-
-
-
3GainND
KCNK2-
-
-
-
3GainND
KCNN3-
-
-
-
3GainND
KCNQ4p.Q580*
Nonsense
SNP
0.510
2-ND
KCNT2-
-
-
-
3GainND
KCTD3-
-
-
-
3GainND
KDM5A-
-
-
-
3GainND
KDM5B-
-
-
-
3GainND
KHDC4-
-
-
-
3GainND
KIAA0040-
-
-
-
3GainND
KIAA1524p.E364G
Missense
SNP
0.434
NDNDND
KIAA1551-
-
-
-
3GainND
KIAA1614-
-
-
-
3GainND
KIF14-
-
-
-
3GainND
KIF21B-
-
-
-
3GainND
KIF26B-
-
-
-
3GainND
KIFAP3-
-
-
-
3GainND
KIR2DL1-
-
-
-
1LossND
KIR2DL4-
-
-
-
1LossND
KIR3DL1-
-
-
-
1LossND
KIR3DL2-
-
-
-
1LossND
KIRREL1-
-
-
-
3GainND
KISS1-
-
-
-
3GainND
KLHDC8A-
-
-
-
3GainND
KLHDC9-
-
-
-
3GainND
KLHL12-
-
-
-
3GainND
KLHL20-
-
-
-
3GainND
KLHL42-
-
-
-
3GainND
KLRB1-
-
-
-
3GainND
KLRC1-
-
-
-
3GainND
KLRC2-
-
-
-
3GainND
KLRC3-
-
-
-
3GainND
KLRC4-
-
-
-
3GainND
KLRC4-KLRK1-
-
-
-
3GainND
KLRD1-
-
-
-
3GainND
KLRF1-
-
-
-
3GainND
KLRF2-
-
-
-
3GainND
KLRG1-
-
-
-
3GainND
KLRK1-
-
-
-
3GainND
KMO-
-
-
-
3GainND
KPRP-
-
-
-
3GainND
KRASp.G12C
Missense
SNP
0.309
3GainND
KRTAP4-3p.R170S
Missense
SNP
0.445
2-ND
KRTCAP2-
-
-
-
3GainND
KTI12p.G42S
Missense
SNP
0.482
2-ND
KYAT1p.A472V
Missense
SNP
0.534
2-ND
L3HYPDH-
-
-
-
1LossND
LAD1-
-
-
-
3GainND
LAG3-
-
-
-
3GainND
LAMA3p.L2955R
Missense
SNP
0.509
2-ND
LAMB3-
-
-
-
3GainND
LAMC1-
-
-
-
3GainND
LAMC2-
-
-
-
3GainND
LAMTOR2-
-
-
-
3GainND
LAX1-
-
-
-
3GainND
LBR-
-
-
-
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
LCORp.E687K
Missense
SNP
0.514
2-ND
LDHB-
-
-
-
3GainND
LDLR-
-
-
-
3GainND
LDLRAD4p.V72A
Missense
SNP
0.460
2-ND
LEFTY1-
-
-
-
3GainND
LEFTY2-
-
-
-
3GainND
LELP1-
-
-
-
3GainND
LEMD1-
-
-
-
3GainND
LENEP-
-
-
-
3GainND
LGALS8-
-
-
-
3GainND
LGR6-
-
-
-
3GainND
LHX4-
-
-
-
3GainND
LHX9-
-
-
-
3GainND
LIFRp.L400P
Missense
SNP
0.361
2-ND
LIN9-
-
-
-
3GainND
LINGO4-
-
-
-
3GainND
LIX1L-
-
-
-
3GainND
LMCD1p.P202S
Missense
SNP
0.446
2-ND
LMNA-
-
-
-
3GainND
LMNTD1-
-
-
-
3GainND
LMO3-
-
-
-
3GainND
LMOD1-
-
-
-
3GainND
LMX1A-
-
-
-
3GainND
LONRF3p.G196R
Missense
SNP
0.444
NDNDND
LOR-
-
-
-
3GainND
LPAR5-
-
-
-
3GainND
LPCAT3-
-
-
-
3GainND
LPGAT1-
-
-
-
3GainND
LRMP-
-
-
-
3GainND
LRP6-
-
-
-
3GainND
LRRC23-
-
-
-
3GainND
LRRC52-
-
-
-
3GainND
LRRC71-
-
-
-
3GainND
LRRCC1p.K755N
Missense
SNP
0.433
2-ND
LRRN2-
-
-
-
3GainND
LRTM2-
-
-
-
3GainND
LTBR-
-
-
-
3GainND
LY9-
-
-
-
3GainND
LYPD8-
-
-
-
3GainND
LYPLAL1-
-
-
-
3GainND
LYSMD1-
-
-
-
3GainND
LYST-
-
-
-
3GainND
M6PR-
-
-
-
3GainND
MAEL-
-
-
-
3GainND
MAGEB3p.R59H
Missense
SNP
0.232
NDNDND
MAGOHB-
-
-
-
3GainND
MANSC1-
-
-
-
3GainND
MANSC4-
-
-
-
3GainND
MAP10-
-
-
-
3GainND
MAP1Ap.P1958S
Missense
SNP
0.458
2-ND
MAP1LC3C-
-
-
-
3GainND
MAP3K21-
-
-
-
3GainND
MAPKAPK2-
-
-
-
3GainND
MAPKAPK3p.L172I
Missense
SNP
0.521
2-ND
MARC1-
-
-
-
3GainND
MARC2-
-
-
-
3GainND
MARK1-
-
-
-
3GainND
MC5Rp.R158H
Missense
SNP
0.475
2-ND
MCL1-
-
-
-
3GainND
MCMBPp.T122A
Missense
SNP
0.507
2-ND
MDM4-
-
-
-
3GainND
MED21-
-
-
-
3GainND
MEF2D-
-
-
-
3GainND
METTL11B-
-
-
-
3GainND
METTL13-
-
-
-
3GainND
METTL18-
-
-
-
3GainND
MEX3A-
-
-
-
3GainND
MFAP5-
-
-
-
3GainND
MFSD4A-
-
-
-
3GainND
MGME1p.N232S
Missense
SNP
0.402
2-ND
MGP-
-
-
-
3GainND
MGST1-
-
-
-
3GainND
MGST3-
-
-
-
3GainND
MIA3-
-
-
-
3GainND
MIER3p.Q188*
Nonsense
SNP
0.524
2-ND
MINDY1-
-
-
-
3GainND
MIXL1-
-
-
-
3GainND
MLF2-
-
-
-
3GainND
MLLT11-
-
-
-
3GainND
MNDA-
-
-
-
3GainND
MNTp.V566A
Missense
SNP
0.537
2-ND
MPC2-
-
-
-
3GainND
MPZ-
-
-
-
3GainND
MPZL1-
-
-
-
3GainND
MR1-
-
-
-
3GainND
MRC2p.E1322K
Missense
SNP
0.460
2-ND
MROH2A-
-
-
-
1LossND
MROH9-
-
-
-
3GainND
MRPL24-
-
-
-
3GainND
MRPL51-
-
-
-
3GainND
MRPL55-
-
-
-
3GainND
MRPL9-
-
-
-
3GainND
MRPS14-
-
-
-
3GainND
MRPS21-
-
-
-
3GainND
MRPS35-
-
-
-
3GainND
MSTO1-
-
-
-
3GainND
MT1HL1-
-
-
-
3GainND
MTERF1p.I340V
Missense
SNP
0.465
2-ND
MTMR11-
-
-
-
3GainND
MTR-
-
-
-
3GainND
MTX1-
-
-
-
3GainND
MUC1-
-
-
-
3GainND
MUC22p.S1704N
Missense
SNP
0.539
2-ND
MUC5ACp.L54I
Missense
SNP
0.498
2-ND
MYBPH-
-
-
-
3GainND
MYOC-
-
-
-
3GainND
MYOCOS-
-
-
-
3GainND
MYOG-
-
-
-
3GainND
NANOG-
-
-
-
3GainND
NANOGNB-
-
-
-
3GainND
NAV1-
-
-
-
3GainND
NAXE-
-
-
-
3GainND
NBPF11-
-
-
-
3GainND
NBPF14-
-
-
-
3GainND
NBPF15-
-
-
-
3GainND
NBPF19-
-
-
-
3GainND
NBPF20-
-
-
-
3GainND
NBPF9-
-
-
-
3GainND
NCAPD2-
-
-
-
3GainND
NCF2-
-
-
-
3GainND
NCSTN-
-
-
-
3GainND
NDRG3p.R232H
Missense
SNP
0.406
2-ND
NDUFA9-
-
-
-
3GainND
NDUFS2-
-
-
-
3GainND
NEBp.T3118I
Missense
SNP
0.556
2-ND
NECAP1-
-
-
-
3GainND
NECTIN2p.A352D
Missense
SNP
0.438
2-ND
NECTIN4-
-
-
-
3GainND
NEIL3p.G267V
Missense
SNP
0.611
2-ND
NEK2-
-
-
-
3GainND
NEK4-
-
-
-
3GainND
NEK7-
-
-
-
3GainND
NENF-
-
-
-
3GainND
NES-
-
-
-
3GainND
NFASC-
-
-
-
3GainND
NFATC1p.G99C
Missense
SNP
0.512
2-ND
NFX1p.M868V
Missense
SNP
0.474
2-ND
NHLH1-
-
-
-
3GainND
NID1-
-
-
-
3GainND
NINJ2-
-
-
-
3GainND
NIT1-
-
-
-
3GainND
NLRP3-
-
-
-
3GainND
NME7-
-
-
-
3GainND
NMNAT2-
-
-
-
3GainND
NOP2-
-
-
-
3GainND
NOS1AP-
-
-
-
3GainND
NPHS2-
-
-
-
3GainND
NPL-
-
-
-
3GainND
NPNTp.R497G
Missense
SNP
0.558
2-ND
NPR1-
-
-
-
3GainND
NR1I3-
-
-
-
3GainND
NR5A2-
-
-
-
3GainND
NRDE2p.A306T
Missense
SNP
0.475
2-ND
NRIP2-
-
-
-
3GainND
NRXN2p.A209V
Missense
SNP
0.554
2-ND
NSL1-
-
-
-
3GainND
NTF3-
-
-
-
3GainND
NTPCR-
-
-
-
3GainND
NTRK1-
-
-
-
3GainND
NUAK2p.R542H
Missense
SNP
0.329
3GainND
NUCKS1-
-
-
-
3GainND
NUDT17-
-
-
-
3GainND
NUDT4B-
-
-
-
3GainND
NUF2-
-
-
-
3GainND
NUP133-
-
-
-
3GainND
NUP205p.A1328V
Missense
SNP
0.585
2-ND
NUP210L-
-
-
-
3GainND
NVL-
-
-
-
3GainND
OAZ3-
-
-
-
3GainND
OBSCNp.A140T
Missense
SNP
0.387
3GainND
OCLM-
-
-
-
3GainND
ODF3L1p.P201T
Missense
SNP
0.465
2-ND
ODR4-
-
-
-
3GainND
OLFML2B-
-
-
-
3GainND
OLR1-
-
-
-
3GainND
OPN3-
-
-
-
3GainND
OPTC-
-
-
-
3GainND
OR10J1-
-
-
-
3GainND
OR10J3-
-
-
-
3GainND
OR10J5-
-
-
-
3GainND
OR10K1-
-
-
-
3GainND
OR10K2-
-
-
-
3GainND
OR10R2-
-
-
-
3GainND
OR10T2-
-
-
-
3GainND
OR10X1-
-
-
-
3GainND
OR10Z1-
-
-
-
3GainND
OR11L1-
-
-
-
3GainND
OR13G1-
-
-
-
3GainND
OR14A16-
-
-
-
3GainND
OR14A2-
-
-
-
3GainND
OR14C36-
-
-
-
3GainND
OR14I1-
-
-
-
3GainND
OR14K1-
-
-
-
3GainND
OR1C1-
-
-
-
3GainND
OR2A1-
-
-
-
1LossND
OR2A7-
-
-
-
1LossND
OR2AJ1-
-
-
-
3GainND
OR2AK2-
-
-
-
3GainND
OR2B11-
-
-
-
3GainND
OR2C3-
-
-
-
3GainND
OR2G2p.C172Y
Missense
SNP
0.273
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
OR2T1-
-
-
-
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
OR4C11p.I204N
Missense
SNP
0.482
2-ND
OR51I2p.R234C
Missense
SNP
0.546
2-ND
OR6B2p.H220N
Missense
SNP
0.462
2-ND
OR6F1-
-
-
-
3GainND
OR6K2-
-
-
-
3GainND
OR6K3-
-
-
-
3GainND
OR6K6-
-
-
-
3GainND
OR6N1-
-
-
-
3GainND
OR6N2-
-
-
-
3GainND
OR6P1-
-
-
-
3GainND
OR6Y1-
-
-
-
3GainND
OSBPp.G93D
Missense
SNP
0.463
2-ND
OSBPL5p.P289L
Missense
SNP
0.510
2-ND
OTUD7B-
-
-
-
3GainND
OVCH1-
-
-
-
3GainND
P2RX2p.Q447L
Missense
SNP
0.495
2-ND
P3H3-
-
-
-
3GainND
PABPC4L-
-
-
-
3GainND
PAPPA2-
-
-
-
3GainND
PAQR6-
-
-
-
3GainND
PARP1-
-
-
-
3GainND
PARP11-
-
-
-
3GainND
PBX1-
-
-
-
3GainND
PBXIP1-
-
-
-
3GainND
PCDH10-
-
-
-
3GainND
PCDH18-
-
-
-
3GainND
PCDH7-
-
-
-
3GainND
PCDHA4p.P522L
Missense
SNP
0.608
2-ND
PCDHGA11p.T23M
Missense
SNP
0.572
2-ND
PCNTp.W2110G
Missense
SNP
0.504
2-ND
PCNX2-
-
-
-
3GainND
PCP4L1-
-
-
-
3GainND
PDC-
-
-
-
3GainND
PDE3A-
-
-
-
3GainND
PDE4DIP-
-
-
-
3GainND
PDE6H-
-
-
-
3GainND
PDZK1-
-
-
-
3GainND
PEA15-
-
-
-
3GainND
PEAR1-
-
-
-
3GainND
PEX11B-
-
-
-
3GainND
PEX19-
-
-
-
3GainND
PEX5-
-
-
-
3GainND
PFDN2-
-
-
-
3GainND
PFKFB2-
-
-
-
3GainND
PGBD2-
-
-
-
3GainND
PGBD5-
-
-
-
3GainND
PGLYRP3-
-
-
-
3GainND
PGLYRP4-
-
-
-
3GainND
PHB2-
-
-
-
3GainND
PHC1-
-
-
-
3GainND
PHLDA3-
-
-
-
3GainND
PI4KB-
-
-
-
3GainND
PIANP-
-
-
-
3GainND
PIAS3-
-
-
-
3GainND
PID1p.C108R
Missense
SNP
0.397
2-ND
PIEZO2p.A2S
Missense
SNP
0.574
2-ND
PIGC-
-
-
-
3GainND
PIGM-
-
-
-
3GainND
PIGR-
-
-
-
3GainND
PIK3C2B-
-
-
-
3GainND
PIK3C2G-
-
-
-
3GainND
PIP5K1A-
-
-
-
3GainND
PITPNM2p.K1275T
Missense
SNP
0.514
2-ND
PKLR-
-
-
-
3GainND
PKP1-
-
-
-
3GainND
PKP2-
-
-
-
3GainND
PLA2G4A-
-
-
-
5AmpND
PLBD1-
-
-
-
3GainND
PLCD3p.L66P
Missense
SNP
0.339
2-ND
PLCZ1-
-
-
-
3GainND
PLD5-
-
-
-
3GainND
PLEKHA5-
-
-
-
3GainND
PLEKHA6-
-
-
-
3GainND
PLEKHG6-
-
-
-
3GainND
PLEKHH3p.L729F
Missense
SNP
0.519
2-ND
PLEKHO1-
-
-
-
3GainND
PLXNA2-
-
-
-
3GainND
PLXNB2p.A1032V
Missense
SNP
0.484
2-ND
PM20D1-
-
-
-
3GainND
PMF1-
-
-
-
3GainND
PMF1-BGLAP-
-
-
-
3GainND
PMVK-
-
-
-
3GainND
POGK-
-
-
-
3GainND
POGZ-
-
-
-
3GainND
POLR3C-
-
-
-
3GainND
POLR3GL-
-
-
-
3GainND
POU2F1-
-
-
-
3GainND
PPFIA1p.V1048M
Missense
SNP
0.467
2-ND
PPFIA4-
-
-
-
3GainND
PPFIBP1-
-
-
-
3GainND
PPOX-
-
-
-
3GainND
PPP1R12B-
-
-
-
3GainND
PPP1R15Bp.K711N
Missense
SNP
0.297
3GainND
PPP2R5A-
-
-
-
3GainND
PPP4Cp.A223V
Missense
SNP
0.537
2-ND
PRB1-
-
-
-
3GainND
PRB2-
-
-
-
3GainND
PRB3-
-
-
-
3GainND
PRB4-
-
-
-
3GainND
PRCC-
-
-
-
3GainND
PRDM1p.L674P
Missense
SNP
0.503
2-ND
PRDM9p.L167R
Missense
SNP
0.409
2-ND
PRDX6-
-
-
-
3GainND
PRELP-
-
-
-
3GainND
PRG4-
-
-
-
3GainND
PRH1-
-
-
-
3GainND
PRH1-PRR4-
-
-
-
3GainND
PRH2-
-
-
-
3GainND
PRKAR1Ap.R97Q
Missense
SNP
0.466
2-ND
PRKG1p.L22P
Missense
SNP
0.411
2-ND
PRMT8-
-
-
-
3GainND
PROSCp.A227V
Missense
SNP
0.464
NDNDND
PROX1-
-
-
-
3GainND
PRPF3-
-
-
-
3GainND
PRPF8p.N1069S
Missense
SNP
0.477
2-ND
PRR4-
-
-
-
3GainND
PRR9-
-
-
-
3GainND
PRRC2C-
-
-
-
3GainND
PRRX1-
-
-
-
3GainND
PRSS38-
-
-
-
3GainND
PRUNE1-
-
-
-
3GainND
PSEN2-
-
-
-
3GainND
PSG4-
-
-
-
0DelND
PSG5-
-
-
-
0DelND
PSG9-
-
-
-
0DelND
PSMB4-
-
-
-
3GainND
PSMD4-
-
-
-
3GainND
PTENp.P38T
Missense
SNP
0.576
2-ND
PTGS2-
-
-
-
3GainND
PTHLH-
-
-
-
3GainND
PTMS-
-
-
-
3GainND
PTPN14-
-
-
-
3GainND
PTPN6-
-
-
-
3GainND
PTPN7-
-
-
-
3GainND
PTPRC-
-
-
-
3GainND
PTPRO-
-
-
-
3GainND
PTPRTp.E1415V
Missense
SNP
0.116
2-ND
PXDNp.E965K
Missense
SNP
0.481
2-ND
PYCR2-
-
-
-
3GainND
PYGO2-
-
-
-
3GainND
PYHIN1-
-
-
-
3GainND
PYROXD1-
-
-
-
3GainND
PZP-
-
-
-
3GainND
QSOX1-
-
-
-
3GainND
RAB13-
-
-
-
3GainND
RAB25-
-
-
-
3GainND
RAB29-
-
-
-
3GainND
RAB3GAP1p.E263*
Nonsense
SNP
0.463
2-ND
RAB3GAP2-
-
-
-
3GainND
RAB4A-
-
-
-
3GainND
RABGAP1L-
-
-
-
3GainND
RABIF-
-
-
-
3GainND
RAD51AP1-
-
-
-
3GainND
RAD52-
-
-
-
3GainND
RALGPS2-
-
-
-
3GainND
RAP2Cp.G131D
Missense
SNP
0.466
NDNDND
RASAL2-
-
-
-
3GainND
RASL10Ap.T86M
Missense
SNP
0.439
2-ND
RASSF5-
-
-
-
3GainND
RASSF8-
-
-
-
3GainND
RBBP5-
-
-
-
3GainND
RBCK1p.R145Q
Missense
SNP
0.577
2-ND
RBM34-
-
-
-
3GainND
RBM8A-
-
-
-
3GainND
RBP5-
-
-
-
3GainND
RC3H1-
-
-
-
3GainND
RCOR3-
-
-
-
3GainND
RCSD1-
-
-
-
3GainND
RD3-
-
-
-
3GainND
RECQL-
-
-
-
3GainND
REN-
-
-
-
3GainND
REP15-
-
-
-
3GainND
REPS2p.R126W
Missense
SNP
0.472
NDNDND
RERG-
-
-
-
3GainND
RERGL-
-
-
-
3GainND
RFX5p.C205*
Nonsense
SNP
0.385
3GainND
RGAG1p.M79T
Missense
SNP
0.475
NDNDND
RGL1-
-
-
-
3GainND
RGPD1-
-
-
-
0DelND
RGPD2-
-
-
-
0DelND
RGS1-
-
-
-
3GainND
RGS13-
-
-
-
3GainND
RGS16-
-
-
-
3GainND
RGS18-
-
-
-
5AmpND
RGS2-
-
-
-
3GainND
RGS21-
-
-
-
5AmpND
RGS4-
-
-
-
3GainND
RGS5-
-
-
-
3GainND
RGS7-
-
-
-
3GainND
RGS8-
-
-
-
3GainND
RGSL1-
-
-
-
3GainND
RHBG-
-
-
-
3GainND
RHEX-
-
-
-
3GainND
RHNO1-
-
-
-
3GainND
RHOU-
-
-
-
3GainND
RIIAD1-
-
-
-
3GainND
RIMKLB-
-
-
-
3GainND
RIMS1p.R1266L
Missense
SNP
0.533
2-ND
RIT1-
-
-
-
3GainND
RNASEL-
-
-
-
3GainND
RNF111p.P538H
Missense
SNP
0.493
2-ND
RNF115-
-
-
-
3GainND
RNF145p.V314I
Missense
SNP
0.490
2-ND
RNF187-
-
-
-
3GainND
RNF2-
-
-
-
3GainND
RNPEP-
-
-
-
3GainND
RORC-
-
-
-
3GainND
RP11-849H4.2p.P4H
Missense
SNP
0.423
NDNDND
RPRD2-
-
-
-
3GainND
RPS27-
-
-
-
3GainND
RPS6KC1-
-
-
-
3GainND
RPTN-
-
-
-
3GainND
RRBP1p.X386_splice
Splice_Site
SNP
0.365
2-ND
RRNAD1-
-
-
-
3GainND
RRP15-
-
-
-
3GainND
RUSC1-
-
-
-
3GainND
RXFP4-
-
-
-
3GainND
RXRG-
-
-
-
3GainND
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
SACSp.R3970K
Missense
SNP
0.537
2-ND
SCAMP3-
-
-
-
3GainND
SCCPDH-
-
-
-
3GainND
SCLT1p.H162Y
Missense
SNP
0.457
2-ND
SCNM1-
-
-
-
3GainND
SCNN1A-
-
-
-
3GainND
SCRIBp.P1251H
Missense
SNP
0.500
2-ND
SCYL3-
-
-
-
3GainND
SDCCAG8-
-
-
-
3GainND
SDE2-
-
-
-
3GainND
SDHC-
-
-
-
3GainND
SEC16B-
-
-
-
3GainND
SELE-
-
-
-
3GainND
SELENBP1-
-
-
-
3GainND
SELL-
-
-
-
3GainND
SELP-
-
-
-
3GainND
SEMA3Ep.T46I
Missense
SNP
0.523
2-ND
SEMA4A-
-
-
-
3GainND
SEMA4Cp.R43W
Missense
SNP
0.430
2-ND
SEMA6C-
-
-
-
3GainND
SENP6p.A3V
Missense
SNP
0.385
2-ND
SERPINC1-
-
-
-
3GainND
SERTAD4-
-
-
-
3GainND
SETDB1-
-
-
-
3GainND
SF3B4-
-
-
-
3GainND
SFT2D2-
-
-
-
3GainND
SH2D1B-
-
-
-
3GainND
SH2D2A-
-
-
-
3GainND
SH3BP5L-
-
-
-
3GainND
SHC1-
-
-
-
3GainND
SHCBP1L-
-
-
-
3GainND
SHE-
-
-
-
3GainND
SHISA4-
-
-
-
3GainND
SINHCAF-
-
-
-
3GainND
SIPA1L2-
-
-
-
3GainND
SLAMF1-
-
-
-
3GainND
SLAMF6-
-
-
-
3GainND
SLAMF7-
-
-
-
3GainND
SLAMF8-
-
-
-
3GainND
SLAMF9-
-
-
-
3GainND
SLC10A5p.K392N
Missense
SNP
0.425
2-ND
SLC12A1p.M732V
Missense
SNP
0.394
2-ND
SLC15A5-
-
-
-
3GainND
SLC16A5p.A299T
Missense
SNP
0.442
2-ND
SLC17A6p.Y177H
Missense
SNP
0.461
2-ND
SLC19A2p.F409L
Missense
SNP
0.284
3GainND
SLC25A22p.K286N
Missense
SNP
0.487
2-ND
SLC25A44-
-
-
-
3GainND
SLC26A9-
-
-
-
3GainND
SLC27A1p.L585M
Missense
SNP
0.475
2-ND
SLC27A3-
-
-
-
3GainND
SLC2A14-
-
-
-
3GainND
SLC2A3-
-
-
-
3GainND
SLC30A1-
-
-
-
3GainND
SLC30A10-
-
-
-
3GainND
SLC35F3-
-
-
-
3GainND
SLC39A1-
-
-
-
3GainND
SLC39A6p.S233R
Missense
SNP
0.490
2-ND
SLC41A1-
-
-
-
3GainND
SLC45A3-
-
-
-
3GainND
SLC45A4p.P5L
Missense
SNP
0.564
2-ND
SLC4A9p.L124V
p.P585S
Missense
Missense
SNP
SNP
0.505
0.392
2-ND
SLC50A1-
-
-
-
3GainND
SLC6A12-
-
-
-
3GainND
SLC6A13-
-
-
-
3GainND
SLC6A17p.C329G
Missense
SNP
0.462
2-ND
SLC7A11-
-
-
-
3GainND
SLC9C2-
-
-
-
3GainND
SLCO1A2-
-
-
-
3GainND
SLCO1B1-
-
-
-
3GainND
SLCO1B3-
-
-
-
3GainND
SLCO1B7-
-
-
-
3GainND
SLCO1C1-
-
-
-
3GainND
SMARCA4-
-
-
-
3GainND
SMCO2-
-
-
-
3GainND
SMCO3-
-
-
-
3GainND
SMCP-
-
-
-
3GainND
SMG5-
-
-
-
3GainND
SMG7-
-
-
-
3GainND
SMYD2-
-
-
-
3GainND
SMYD3-
-
-
-
3GainND
SNAP47-
-
-
-
3GainND
SNAPIN-
-
-
-
3GainND
SNHG28-
-
-
-
3GainND
SNRPE-
-
-
-
3GainND
SNX27-
-
-
-
3GainND
SOAT1-
-
-
-
3GainND
SOX13-
-
-
-
3GainND
SOX5-
-
-
-
3GainND
SPATA17-
-
-
-
3GainND
SPATA45-
-
-
-
3GainND
SPATA46-
-
-
-
3GainND
SPC24-
-
-
-
3GainND
SPCS1-
-
-
-
3GainND
SPHAR-
-
-
-
3GainND
SPRR1A-
-
-
-
3GainND
SPRR1B-
-
-
-
3GainND
SPRR3-
-
-
-
3GainND
SPRR4-
-
-
-
3GainND
SPRTN-
-
-
-
3GainND
SPSB2-
-
-
-
3GainND
SPTA1-
-
-
-
3GainND
SPTBp.E791K
Missense
SNP
0.442
2-ND
SPTBN5p.Q2049K
Missense
SNP
0.340
2-ND
SPX-
-
-
-
3GainND
SRGAP2-
-
-
-
3GainND
SRGAP2B-
-
-
-
3GainND
SRP9-
-
-
-
3GainND
SRSF12p.A67V
Missense
SNP
0.533
2-ND
SRSF6p.R215T
Missense
SNP
0.552
2-ND
SRSF9p.R163C
Missense
SNP
0.437
2-ND
SSC5Dp.G794E
Missense
SNP
0.500
2-ND
SSH2p.C556W
Missense
SNP
0.486
2-ND
SSPN-
-
-
-
3GainND
SSR2-
-
-
-
3GainND
ST8SIA1-
-
-
-
3GainND
STAC2p.P305S
Missense
SNP
0.451
2-ND
STK32Cp.S411N
Missense
SNP
0.471
2-ND
STK38L-
-
-
-
3GainND
STRAP-
-
-
-
3GainND
STUM-
-
-
-
3GainND
STX6-
-
-
-
3GainND
STYK1-
-
-
-
3GainND
SUCO-
-
-
-
3GainND
SULT2A1p.E185D
Missense
SNP
0.469
2-ND
SUPT5Hp.R310H
Missense
SNP
0.534
2-ND
SUSD4-
-
-
-
3GainND
SV2A-
-
-
-
3GainND
SWT1-
-
-
-
3GainND
SYNJ2p.S676N
Missense
SNP
0.493
2-ND
SYT10-
-
-
-
3GainND
SYT11-
-
-
-
3GainND
SYT14-
-
-
-
3GainND
SYT16p.Q218*
Nonsense
SNP
0.442
2-ND
SYT2-
-
-
-
3GainND
TADA1-
-
-
-
3GainND
TAF1A-
-
-
-
3GainND
TAF5L-
-
-
-
3GainND
TAGLN2-
-
-
-
3GainND
TAP1p.V385M
Missense
SNP
0.442
2-ND
TAPBPL-
-
-
-
3GainND
TARBP1-
-
-
-
3GainND
TARS2-
-
-
-
3GainND
TAS2R10-
-
-
-
3GainND
TAS2R13-
-
-
-
3GainND
TAS2R14-
-
-
-
3GainND
TAS2R19-
-
-
-
3GainND
TAS2R20-
-
-
-
3GainND
TAS2R30-
-
-
-
3GainND
TAS2R31-
-
-
-
3GainND
TAS2R42-
-
-
-
3GainND
TAS2R46-
-
-
-
3GainND
TAS2R50-
-
-
-
3GainND
TAS2R7-
-
-
-
3GainND
TAS2R8-
-
-
-
3GainND
TAS2R9-
-
-
-
3GainND
TATDN3-
-
-
-
3GainND
TBCE-
-
-
-
3GainND
TBX19-
-
-
-
3GainND
TCERG1Lp.P24H
Missense
SNP
0.293
2-ND
TCHH-
-
-
-
3GainND
TCHHL1-
-
-
-
3GainND
TDP2p.G4W
Missense
SNP
0.440
2-ND
TDRD10-
-
-
-
3GainND
TDRD5-
-
-
-
3GainND
TDRKH-
-
-
-
3GainND
TEAD4-
-
-
-
3GainND
TEDDM1-
-
-
-
3GainND
TET3p.S1253T
Missense
SNP
0.488
2-ND
TEX35-
-
-
-
3GainND
TEX50-
-
-
-
3GainND
TEX52-
-
-
-
3GainND
TFB2M-
-
-
-
3GainND
TGFB2-
-
-
-
3GainND
TGFBR3Lp.C176Y
Missense
SNP
0.538
2-ND
THBS3-
-
-
-
3GainND
THEM4-
-
-
-
3GainND
THEM5-
-
-
-
3GainND
TIGAR-
-
-
-
3GainND
TIMM17A-
-
-
-
3GainND
TIPRL-
-
-
-
3GainND
TLN1p.K745T
Missense
SNP
0.452
2-ND
TLR5-
-
-
-
3GainND
TM7SF3-
-
-
-
3GainND
TMCC2-
-
-
-
3GainND
TMCO1-
-
-
-
3GainND
TMCO4p.V260M
Missense
SNP
0.487
2-ND
TMED9p.D91Y
Missense
SNP
0.452
2-ND
TMEM108p.T269S
Missense
SNP
0.515
2-ND
TMEM183A-
-
-
-
3GainND
TMEM2p.C554R
Missense
SNP
0.538
NDNDND
TMEM206-
-
-
-
3GainND
TMEM242p.A44V
Missense
SNP
0.486
2-ND
TMEM52B-
-
-
-
3GainND
TMEM63A-
-
-
-
3GainND
TMEM63Cp.Y316H
Missense
SNP
0.459
2-ND
TMEM68p.C64Y
Missense
SNP
0.423
2-ND
TMEM79-
-
-
-
3GainND
TMEM81-
-
-
-
3GainND
TMEM9-
-
-
-
3GainND
TMOD4-
-
-
-
3GainND
TMPRSS7p.P357S
Missense
SNP
0.333
2-ND
TMTC1-
-
-
-
3GainND
TMX4p.G53D
Missense
SNP
0.500
2-ND
TNFAIP8L2-
-
-
-
3GainND
TNFRSF11Ap.R111H
Missense
SNP
0.426
2-ND
TNFRSF1A-
-
-
-
3GainND
TNFSF18-
-
-
-
3GainND
TNFSF4-
-
-
-
3GainND
TNN-
-
-
-
3GainND
TNNI1-
-
-
-
3GainND
TNNT2-
-
-
-
3GainND
TNR-
-
-
-
3GainND
TNXB-
-
-
-
1LossND
TOMM20-
-
-
-
3GainND
TOMM40L-
-
-
-
3GainND
TOR1AIP1-
-
-
-
3GainND
TOR1AIP2-
-
-
-
3GainND
TOR3Ap.E309D
Missense
SNP
0.720
3GainND
TP53BP2-
-
-
-
3GainND
TPI1-
-
-
-
3GainND
TPM3-
-
-
-
3GainND
TPR-
-
-
-
3GainND
TRA2Bp.D185Y
Missense
SNP
0.463
2-ND
TRAF3IP3-
-
-
-
3GainND
TRAF5-
-
-
-
3GainND
TRIM11-
-
-
-
3GainND
TRIM17-
-
-
-
3GainND
TRIM27p.X257_splice
Splice_Site
SNP
0.571
2-ND
TRIM33p.P544S
Missense
SNP
0.528
2-ND
TRIM46-
-
-
-
3GainND
TRIM58-
-
-
-
3GainND
TRIM64Bp.V368I
Missense
SNP
0.220
2-ND
TRIM67-
-
-
-
3GainND
TRMT1L-
-
-
-
3GainND
TROVE2-
-
-
-
3GainND
TRPC6p.W391*
Nonsense
SNP
0.434
2-ND
TSACC-
-
-
-
3GainND
TSEN15-
-
-
-
3GainND
TSKSp.R238L
Missense
SNP
0.107
2-ND
TSNAX-
-
-
-
3GainND
TSNAX-DISC1-
-
-
-
3GainND
TSPAN11-
-
-
-
3GainND
TSPAN9-
-
-
-
3GainND
TSTD1-
-
-
-
3GainND
TTC13-
-
-
-
3GainND
TTC24-
-
-
-
3GainND
TUFT1-
-
-
-
3GainND
TULP3-
-
-
-
3GainND
TXNIP-
-
-
-
3GainND
UAP1-
-
-
-
3GainND
UBAP2L-
-
-
-
3GainND
UBE2E2p.I160V
Missense
SNP
0.504
2-ND
UBE2G2p.D85A
Missense
SNP
0.498
2-ND
UBE2Q1-
-
-
-
3GainND
UBE2T-
-
-
-
3GainND
UBQLN4-
-
-
-
3GainND
UCHL5-
-
-
-
3GainND
UCK2-
-
-
-
3GainND
UFC1-
-
-
-
3GainND
UGT1A1-
-
-
-
1LossND
UGT1A10-
-
-
-
1LossND
UGT1A3-
-
-
-
1LossND
UGT1A4-
-
-
-
1LossND
UGT1A5-
-
-
-
1LossND
UGT1A6-
-
-
-
1LossND
UGT1A7-
-
-
-
1LossND
UGT1A8-
-
-
-
1LossND
UGT1A9-
-
-
-
1LossND
UHMK1-
-
-
-
3GainND
UNC45Bp.T450M
Missense
SNP
0.429
2-ND
URB2-
-
-
-
3GainND
USF1-
-
-
-
3GainND
USH2A-
-
-
-
3GainND
USP21-
-
-
-
3GainND
USP22p.S510N
Missense
SNP
0.488
2-ND
USP5-
-
-
-
3GainND
UTP25-
-
-
-
3GainND
VAMP1-
-
-
-
3GainND
VAMP4-
-
-
-
3GainND
VANGL2-
-
-
-
3GainND
VASH2-
-
-
-
3GainND
VHLL-
-
-
-
3GainND
VPS45-
-
-
-
3GainND
VPS72-
-
-
-
3GainND
VSIG8-
-
-
-
3GainND
VWA3Ap.G79V
Missense
SNP
0.451
2-ND
VWA8p.S1724G
Missense
SNP
0.429
2-ND
VWCEp.G78A
Missense
SNP
0.468
2-ND
VWF-
-
-
-
3GainND
WAPLp.N50I
Missense
SNP
0.503
2-ND
WBP11-
-
-
-
3GainND
WDFY1p.Q246R
Missense
SNP
0.484
2-ND
WDFY3p.V1393A
Missense
SNP
0.500
2-ND
WDR24p.L429F
Missense
SNP
0.483
2-ND
WDR26-
-
-
-
3GainND
WDR4p.H399N
p.A246T
Missense
Missense
SNP
SNP
0.506
0.506
2-ND
WDR64-
-
-
-
3GainND
WFIKKN1p.R521C
Missense
SNP
0.500
2-ND
WNK1-
-
-
-
3GainND
WNT3A-
-
-
-
3GainND
WNT5Ap.T352M
Missense
SNP
0.526
2-ND
WNT5B-
-
-
-
3GainND
WNT9A-
-
-
-
3GainND
XCL1-
-
-
-
3GainND
XCL2-
-
-
-
3GainND
XPR1-
-
-
-
3GainND
YARS2-
-
-
-
3GainND
YBX3-
-
-
-
3GainND
YOD1-
-
-
-
3GainND
YY1AP1-
-
-
-
3GainND
ZBED6-
-
-
-
3GainND
ZBTB18-
-
-
-
3GainND
ZBTB37-
-
-
-
3GainND
ZBTB41-
-
-
-
3GainND
ZBTB7B-
-
-
-
3GainND
ZC3H11A-
-
-
-
3GainND
ZFHX3p.Y3344H
Missense
SNP
0.466
2-ND
ZKSCAN7-
-
-
-
1LossND
ZNF124-
-
-
-
3GainND
ZNF197p.R586I
Missense
SNP
0.475
1LossND
ZNF281-
-
-
-
3GainND
ZNF316p.H391R
p.R767H
Missense
Missense
SNP
SNP
0.338
0.200
2-ND
ZNF343p.V479A
Missense
SNP
0.537
2-ND
ZNF35-
-
-
-
1LossND
ZNF384-
-
-
-
3GainND
ZNF496-
-
-
-
3GainND
ZNF501-
-
-
-
1LossND
ZNF502-
-
-
-
1LossND
ZNF609p.T206S
Missense
SNP
0.460
2-ND
ZNF648-
-
-
-
3GainND
ZNF660-
-
-
-
1LossND
ZNF669-
-
-
-
3GainND
ZNF670-
-
-
-
3GainND
ZNF670-ZNF695-
-
-
-
3GainND
ZNF672-
-
-
-
3GainND
ZNF678-
-
-
-
3GainND
ZNF681p.E16D
Missense
SNP
0.525
2-ND
ZNF687-
-
-
-
3GainND
ZNF692-
-
-
-
3GainND
ZNF695-
-
-
-
3GainND
ZNF705A-
-
-
-
3GainND
ZNF804Bp.H609N
p.Q993R
Missense
Missense
SNP
SNP
0.506
0.518
2-ND
ZNF90p.D148E
Missense
SNP
0.389
2-ND
ZP4-
-
-
-
3GainND
ZSCAN2p.Q188R
Missense
SNP
0.482
2-ND