PDMR-997537~175-T~HN1-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
3Gain-
A2ML1-
-
-
-
3Gain-
AAAS-
-
-
-
3Gain-
AACS-
-
-
-
3Gain-
AARD-
-
-
-
4Gain-
ABCB9-
-
-
-
3Gain-
ABCC12p.R615H
Missense
SNP
0.460
2--
ABCC9-
-
-
-
3Gain-
ABCD2-
-
-
-
3Gain-
ABRA-
-
-
-
4Gain-
ABTB1p.R190H
Missense
SNP
0.495
2--
ABTB2p.S762L
Missense
SNP
0.428
2--
AC002996.1-
-
-
-
3Gain-
AC005832.4-
-
-
-
3Gain-
AC005833.1-
-
-
-
3Gain-
AC006064.6-
-
-
-
3Gain-
AC006518.7-
-
-
-
3Gain-
AC008012.1-
-
-
-
3Gain-
AC009879.2-
-
-
-
4Gain-
AC009879.3-
-
-
-
4Gain-
AC010197.2-
-
-
-
3Gain-
AC011604.2-
-
-
-
3Gain-
AC012213.5-
-
-
-
4Gain-
AC012531.2-
-
-
-
3Gain-
AC022335.1-
-
-
-
3Gain-
AC022826.2-
-
-
-
4Gain-
AC023055.1-
-
-
-
3Gain-
AC023509.3-
-
-
-
3Gain-
AC025165.3-
-
-
-
3Gain-
AC025263.2-
-
-
-
3Gain-
AC026786.1-
-
-
-
3Gain-
AC034102.2-
-
-
-
3Gain-
AC036214.3-
-
-
-
4Gain-
AC048338.1-
-
-
-
3Gain-
AC068775.1-
-
-
-
3Gain-
AC069503.2-
-
-
-
3Gain-
AC073610.2-
-
-
-
3Gain-
AC073610.3-
-
-
-
3Gain-
AC073612.1-
-
-
-
3Gain-
AC073896.1-
-
-
-
3Gain-
AC078927.1-
-
-
-
3Gain-
AC092111.3-
-
-
-
3Gain-
AC097104.1-
-
-
-
3Gain-
AC100868.1-
-
-
-
3Gain-
AC115220.1-
-
-
-
1Loss-
AC117378.1-
-
-
-
3Gain-
AC137834.1-
-
-
-
3Gain-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
4Gain-
ACACB-
-
-
-
3Gain-
ACAD10-
-
-
-
3Gain-
ACADS-
-
-
-
3Gain-
ACOT7p.R364W
Missense
SNP
0.542
2--
ACRBP-
-
-
-
3Gain-
ACSM4-
-
-
-
3Gain-
ACSS3-
-
-
-
3Gain-
ACTL9p.T198M
Missense
SNP
0.459
2--
ACTR1Ap.E212*
Nonsense
SNP
0.472
2--
ACTR6-
-
-
-
3Gain-
ACVR1B-
-
-
-
3Gain-
ACVRL1-
-
-
-
3Gain-
ADAMTS20-
-
-
-
3Gain-
ADCK5-
-
-
-
4Gain-
ADCY6-
-
-
-
3Gain-
ADCY8-
-
-
-
3Gain-
ADGRB1-
-
-
-
3Gain-
ADGRD1-
-
-
-
3Gain-
ADGRE2p.R239H
Missense
SNP
0.267
2--
ADGRL3p.P393H
Missense
SNP
0.483
2--
ADHFE1-
-
-
-
4Gain-
ADIPOR2-
-
-
-
3Gain-
ADPRHL1p.G186R
Missense
SNP
0.492
2--
AEBP2-
-
-
-
3Gain-
AFAP1L2p.R769H
Missense
SNP
0.571
2--
AGAP2-
-
-
-
3Gain-
AGO2-
-
-
-
3Gain-
AICDA-
-
-
-
3Gain-
AKAP11p.D1295E
Missense
SNP
0.466
2--
AKAP3-
-
-
-
3Gain-
AL021546.1-
-
-
-
3Gain-
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
ALDH1L2-
-
-
-
3Gain-
ALDH2-
-
-
-
3Gain-
ALG10-
-
-
-
3Gain-
ALG10B-
-
-
-
3Gain-
ALKAL1-
-
-
-
4Gain-
ALKBH2-
-
-
-
3Gain-
ALX1-
-
-
-
3Gain-
AMDHD1-
-
-
-
3Gain-
AMHR2-
-
-
-
3Gain-
AMIGO2-
-
-
-
3Gain-
AMN1-
-
-
-
3Gain-
AMY1Cp.A322T
Missense
SNP
0.306
NDND-
ANAPC5-
-
-
-
3Gain-
ANAPC7-
-
-
-
3Gain-
ANGPT1-
-
-
-
4Gain-
ANHX-
-
-
-
3Gain-
ANKEF1p.E734D
Missense
SNP
0.500
2--
ANKLE2-
-
-
-
3Gain-
ANKRD13A-
-
-
-
3Gain-
ANKRD30B-
-
-
-
1Loss-
ANKRD33-
-
-
-
3Gain-
ANKRD46-
-
-
-
4Gain-
ANKRD52-
-
-
-
3Gain-
ANKS1B-
-
-
-
3Gain-
ANKS3p.R270Q
Missense
SNP
0.488
2--
ANO2-
-
-
-
3Gain-
ANO4-
-
-
-
3Gain-
ANO6-
-
-
-
3Gain-
ANP32D-
-
-
-
3Gain-
ANXA11-
-
-
-
1Loss-
ANXA13-
-
-
-
3Gain-
AP2A2p.R608W
Missense
SNP
0.513
2--
AP3B2p.R597H
Missense
SNP
0.447
2--
APAF1-
-
-
-
3Gain-
APOBEC1-
-
-
-
3Gain-
APOF-
-
-
-
3Gain-
APOLD1-
-
-
-
3Gain-
APPL2-
-
-
-
3Gain-
AQP2-
-
-
-
3Gain-
AQP5-
-
-
-
3Gain-
AQP6-
-
-
-
3Gain-
ARC-
-
-
-
3Gain-
ARF3-
-
-
-
3Gain-
ARFGEF1-
-
-
-
4Gain-
ARGFX-
-
-
-
3Gain-
ARHGAP22p.R431Q
Missense
SNP
0.522
2--
ARHGAP39-
-
-
-
4Gain-
ARHGAP9-
-
-
-
3Gain-
ARHGDIB-
-
-
-
3Gain-
ARHGEF25-
-
-
-
3Gain-
ARHGEF5-
-
-
-
1Loss-
ARID2-
-
-
-
3Gain-
ARL1-
-
-
-
3Gain-
ARL6IP4-
-
-
-
3Gain-
ARMC1-
-
-
-
4Gain-
ARMC5p.A607T
Missense
SNP
0.489
2--
ARNT2p.P582L
Missense
SNP
0.532
2--
ARNTL2-
-
-
-
3Gain-
ARPC3-
-
-
-
3Gain-
ART4-
-
-
-
3Gain-
ASAP1-
-
-
-
3Gain-
ASB8-
-
-
-
3Gain-
ASCL1-
-
-
-
3Gain-
ASCL4-
-
-
-
3Gain-
ASIC1-
-
-
-
3Gain-
ASPH-
-
-
-
4Gain-
ATAD2-
-
-
-
3Gain-
ATF1-
-
-
-
3Gain-
ATF7-
-
-
-
3Gain-
ATF7IP-
-
-
-
3Gain-
ATG101-
-
-
-
3Gain-
ATL1p.R5H
Missense
SNP
0.534
2--
ATN1-
-
-
-
3Gain-
ATP10Ap.T1281M
Missense
SNP
0.512
2--
ATP23-
-
-
-
3Gain-
ATP2A2-
-
-
-
3Gain-
ATP2B1-
-
-
-
3Gain-
ATP2C2p.V260A
Missense
SNP
0.416
2--
ATP5F1B-
-
-
-
3Gain-
ATP5MC2-
-
-
-
3Gain-
ATP6V0A2-
-
-
-
3Gain-
ATP6V0D2-
-
-
-
4Gain-
ATP6V1C1-
-
-
-
4Gain-
ATP6V1H-
-
-
-
4Gain-
ATXN2-
-
-
-
3Gain-
ATXN7L3B-
-
-
-
3Gain-
AVIL-
-
-
-
3Gain-
AVPR1A-
-
-
-
3Gain-
AZIN1-
-
-
-
4Gain-
B3GNT4-
-
-
-
3Gain-
B4GALNT1-
-
-
-
3Gain-
B4GALNT3-
-
-
-
3Gain-
BAALC-
-
-
-
4Gain-
BARHL2p.T57A
Missense
SNP
0.520
2--
BAZ2A-
-
-
-
3Gain-
BBS10-
-
-
-
3Gain-
BCAMp.V358M
Missense
SNP
0.774
2--
BCAT1-
-
-
-
3Gain-
BCDIN3D-
-
-
-
3Gain-
BCL2L14-
-
-
-
3Gain-
BCL7A-
-
-
-
3Gain-
BEST3-
-
-
-
3Gain-
BHLHE22-
-
-
-
4Gain-
BHLHE41-
-
-
-
3Gain-
BICD1-
-
-
-
3Gain-
BICDL1-
-
-
-
3Gain-
BIN2-
-
-
-
3Gain-
BIRC6p.R3284H
Missense
SNP
0.489
2--
BLOC1S1-
-
-
-
3Gain-
BLOC1S1-RDH5-
-
-
-
3Gain-
BLOC1S5-
-
-
-
1Loss-
BLOC1S5-TXNDC5-
-
-
-
1Loss-
BMP6-
-
-
-
1Loss-
BOLA1-
-
-
-
1Loss-
BOP1-
-
-
-
4Gain-
BORCS5-
-
-
-
3Gain-
BRAFp.V600E
Missense
SNP
0.406
2--
BRAP-
-
-
-
3Gain-
BRCA2p.A392V
Missense
SNP
0.497
2--
BRI3BP-
-
-
-
3Gain-
BRINP3p.R530H
Missense
SNP
0.507
2--
BSXp.P11L
Missense
SNP
0.264
2--
BTBD11-
-
-
-
3Gain-
BTG1-
-
-
-
3Gain-
C12orf10-
-
-
-
3Gain-
C12orf29-
-
-
-
3Gain-
C12orf4-
-
-
-
3Gain-
C12orf40-
-
-
-
3Gain-
C12orf42p.R293Q
Missense
SNP
0.699
3Gain-
C12orf43-
-
-
-
3Gain-
C12orf45-
-
-
-
3Gain-
C12orf50-
-
-
-
3Gain-
C12orf54-
-
-
-
3Gain-
C12orf56-
-
-
-
3Gain-
C12orf57-
-
-
-
3Gain-
C12orf60-
-
-
-
3Gain-
C12orf65-
-
-
-
3Gain-
C12orf66-
-
-
-
3Gain-
C12orf71-
-
-
-
3Gain-
C12orf73-
-
-
-
3Gain-
C12orf75-
-
-
-
3Gain-
C12orf76-
-
-
-
3Gain-
C16orf54p.R160S
Missense
SNP
0.482
2--
C1QL4p.D166G
Missense
SNP
0.112
3Gain-
C1QTNF4p.Y259H
Missense
SNP
0.190
2--
C1R-
-
-
-
3Gain-
C1RL-
-
-
-
3Gain-
C1S-
-
-
-
3Gain-
C2CD5-
-
-
-
3Gain-
C3AR1-
-
-
-
3Gain-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C6orf118p.R214M
Missense
SNP
0.543
2--
C8orf33-
-
-
-
4Gain-
C8orf34-
-
-
-
4Gain-
C8orf37-
-
-
-
4Gain-
C8orf44-
-
-
-
4Gain-
C8orf59-
-
-
-
4Gain-
C8orf76-
-
-
-
3Gain-
C8orf82-
-
-
-
4Gain-
C8orf88-
-
-
-
4Gain-
C8orf89-
-
-
-
4Gain-
CA1-
-
-
-
4Gain-
CA13-
-
-
-
4Gain-
CA2-
-
-
-
4Gain-
CA3-
-
-
-
4Gain-
CA8-
-
-
-
4Gain-
CAB39-
-
-
-
1Loss-
CABP1-
-
-
-
3Gain-
CACNA1C-
-
-
-
3Gain-
CACNA1Gp.Y807H
Missense
SNP
0.161
2--
CACNA2D4-
-
-
-
3Gain-
CACNB3-
-
-
-
3Gain-
CADM2-
-
-
-
3Gain-
CADPS2p.T712P
Missense
SNP
0.477
2--
CAGE1-
-
-
-
1Loss-
CALB1-
-
-
-
4Gain-
CALCOCO1-
-
-
-
3Gain-
CAMKK2-
-
-
-
3Gain-
CAND1-
-
-
-
3Gain-
CAPN5p.A185T
Missense
SNP
0.470
2--
CAPRIN2-
-
-
-
3Gain-
CAPS2-
-
-
-
3Gain-
CAPZA3-
-
-
-
3Gain-
CASC1-
-
-
-
3Gain-
CASZ1p.A1052T
Missense
SNP
0.346
2--
CBX5-
-
-
-
3Gain-
CC2D1Ap.R886C
Missense
SNP
0.496
2--
CCDC166-
-
-
-
4Gain-
CCDC184-
-
-
-
3Gain-
CCDC38-
-
-
-
3Gain-
CCDC59-
-
-
-
3Gain-
CCDC60-
-
-
-
3Gain-
CCDC62-
-
-
-
3Gain-
CCDC63-
-
-
-
3Gain-
CCDC65-
-
-
-
3Gain-
CCDC77-
-
-
-
3Gain-
CCDC91-
-
-
-
3Gain-
CCDC92-
-
-
-
3Gain-
CCER1-
-
-
-
3Gain-
CCND2-
-
-
-
3Gain-
CCNE2-
-
-
-
4Gain-
CCNT1-
-
-
-
3Gain-
CCT2-
-
-
-
3Gain-
CCT8L2p.V522M
Missense
SNP
0.490
2--
CD163-
-
-
-
3Gain-
CD163L1-
-
-
-
3Gain-
CD27-
-
-
-
3Gain-
CD274p.Q156H
Missense
SNP
0.533
2--
CD4-
-
-
-
3Gain-
CD63-
-
-
-
3Gain-
CD69-
-
-
-
3Gain-
CD9-
-
-
-
3Gain-
CDCA3-
-
-
-
3Gain-
CDH17-
-
-
-
4Gain-
CDK17-
-
-
-
3Gain-
CDK18p.R156H
Missense
SNP
0.474
2--
CDK2-
-
-
-
3Gain-
CDK2AP1-
-
-
-
3Gain-
CDK4-
-
-
-
3Gain-
CDKN1B-
-
-
-
3Gain-
CEBPD-
-
-
-
4Gain-
CELA1-
-
-
-
3Gain-
CEP290-
-
-
-
3Gain-
CEP83-
-
-
-
3Gain-
CERS5-
-
-
-
3Gain-
CFAP54-
-
-
-
3Gain-
CFAP73-
-
-
-
3Gain-
CHCHD7-
-
-
-
4Gain-
CHD4-
-
-
-
3Gain-
CHD7-
-
-
-
4Gain-
CHFR-
-
-
-
3Gain-
CHMP4C-
-
-
-
4Gain-
CHPT1-
-
-
-
3Gain-
CHRAC1-
-
-
-
3Gain-
CHST11-
-
-
-
3Gain-
CIT-
-
-
-
3Gain-
CKAP4-
-
-
-
3Gain-
CLEC12A-
-
-
-
3Gain-
CLEC12B-
-
-
-
3Gain-
CLEC1A-
-
-
-
3Gain-
CLEC1B-
-
-
-
3Gain-
CLEC2A-
-
-
-
3Gain-
CLEC2B-
-
-
-
3Gain-
CLEC2D-
-
-
-
3Gain-
CLEC4A-
-
-
-
3Gain-
CLEC4C-
-
-
-
3Gain-
CLEC4D-
-
-
-
3Gain-
CLEC4E-
-
-
-
3Gain-
CLEC6A-
-
-
-
3Gain-
CLEC7A-
-
-
-
3Gain-
CLEC9A-
-
-
-
3Gain-
CLECL1-
-
-
-
3Gain-
CLIP1-
-
-
-
3Gain-
CLLU1OS-
-
-
-
3Gain-
CLSTN3-
-
-
-
3Gain-
CLVS1-
-
-
-
4Gain-
CMAS-
-
-
-
3Gain-
CMKLR1-
-
-
-
3Gain-
CNBD1-
-
-
-
4Gain-
CNGB3-
-
-
-
4Gain-
CNNM1p.R458C
Missense
SNP
0.466
2--
CNOT2-
-
-
-
3Gain-
CNPY2-
-
-
-
3Gain-
CNTN1-
-
-
-
3Gain-
CNTN3p.G937R
Missense
SNP
0.172
2--
CNTNAP2-
-
-
-
3Gain-
COL12A1p.X2114_splice
Splice_Site
SNP
0.483
2--
COL14A1-
-
-
-
4Gain-
COL22A1-
-
-
-
3Gain-
COL2A1p.Q36*
Nonsense
SNP
0.279
3Gain-
COL4A3p.K939N
Missense
SNP
0.482
2--
COLEC10-
-
-
-
4Gain-
COLEC12p.G512D
Missense
SNP
0.495
2--
COMMD5-
-
-
-
4Gain-
COPG1p.R624C
Missense
SNP
0.483
2--
COPS5-
-
-
-
4Gain-
COPS7A-
-
-
-
3Gain-
COPZ1-
-
-
-
3Gain-
COQ10A-
-
-
-
3Gain-
COQ5-
-
-
-
3Gain-
CORO1C-
-
-
-
3Gain-
COX14-
-
-
-
3Gain-
COX6A1-
-
-
-
3Gain-
COX6C-
-
-
-
4Gain-
CPA6-
-
-
-
4Gain-
CPM-
-
-
-
3Gain-
CPNE3-
-
-
-
4Gain-
CPNE8-
-
-
-
3Gain-
CPQ-
-
-
-
4Gain-
CPSF1-
-
-
-
4Gain-
CPSF6-
-
-
-
3Gain-
CPXM2p.S554Y
p.P73L
Missense
Missense
SNP
SNP
0.343
0.634
2--
CRACR2A-
-
-
-
3Gain-
CRADD-
-
-
-
3Gain-
CREBL2-
-
-
-
3Gain-
CRH-
-
-
-
4Gain-
CRISPLD1-
-
-
-
4Gain-
CRY1-
-
-
-
3Gain-
CS-
-
-
-
3Gain-
CSAD-
-
-
-
3Gain-
CSMD3p.G549D
Missense
SNP
0.186
4Gain-
CSPG4p.V1094M
Missense
SNP
0.509
2--
CSPP1-
-
-
-
4Gain-
CSRNP2-
-
-
-
3Gain-
CSRP2-
-
-
-
3Gain-
CTAGE4-
-
-
-
1Loss-
CTAGE8-
-
-
-
1Loss-
CTDSP2-
-
-
-
3Gain-
CTHRC1-
-
-
-
4Gain-
CTNNB1p.S646C
Missense
SNP
0.588
2--
CTNND1p.R236H
Missense
SNP
0.521
2--
CUX2-
-
-
-
3Gain-
CYC1-
-
-
-
4Gain-
CYHR1-
-
-
-
4Gain-
CYP11B1-
-
-
-
3Gain-
CYP11B2-
-
-
-
4Gain-
CYP21A2-
-
-
-
1Loss-
CYP27B1-
-
-
-
3Gain-
CYP7A1-
-
-
-
4Gain-
CYP7B1-
-
-
-
4Gain-
DACH1-
-
-
-
3Gain-
DAO-
-
-
-
3Gain-
DAZAP2-
-
-
-
3Gain-
DBX2-
-
-
-
3Gain-
DCAF13-
-
-
-
4Gain-
DCAF4L2-
-
-
-
4Gain-
DCD-
-
-
-
3Gain-
DCN-
-
-
-
3Gain-
DCP1B-
-
-
-
3Gain-
DCST2p.G690D
Missense
SNP
0.505
2--
DCSTAMP-
-
-
-
4Gain-
DCTN2-
-
-
-
3Gain-
DDIT3-
-
-
-
3Gain-
DDN-
-
-
-
3Gain-
DDX11-
-
-
-
3Gain-
DDX23-
-
-
-
3Gain-
DDX47-
-
-
-
3Gain-
DDX51-
-
-
-
3Gain-
DDX54-
-
-
-
3Gain-
DDX55-
-
-
-
3Gain-
DECR1-
-
-
-
4Gain-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DENND3-
-
-
-
3Gain-
DENND5B-
-
-
-
3Gain-
DENR-
-
-
-
3Gain-
DEPDC4-
-
-
-
3Gain-
DEPTOR-
-
-
-
4Gain-
DERA-
-
-
-
3Gain-
DERL1-
-
-
-
4Gain-
DET1p.R527H
Missense
SNP
0.441
2--
DGAT1-
-
-
-
4Gain-
DGKA-
-
-
-
3Gain-
DGKHp.A981T
Missense
SNP
0.344
2--
DHH-
-
-
-
3Gain-
DHX37-
-
-
-
3Gain-
DIABLO-
-
-
-
3Gain-
DIDO1p.S2007L
Missense
SNP
0.521
2--
DIP2B-
-
-
-
3Gain-
DMRTA1p.A209T
Missense
SNP
0.549
2--
DNAH10-
-
-
-
3Gain-
DNAH3p.R308W
Missense
SNP
0.505
2--
DNAJB7p.Q11*
Nonsense
SNP
0.429
2--
DNAJC14-
-
-
-
3Gain-
DNAJC22-
-
-
-
3Gain-
DNAJC5B-
-
-
-
4Gain-
DNER-
-
-
-
1Loss-
DNHD1p.V1072M
Missense
SNP
0.459
2--
DNM1L-
-
-
-
3Gain-
DOCK7p.G1314D
Missense
SNP
0.500
2--
DOT1Lp.A894T
Missense
SNP
0.471
2--
DPEP2p.N176S
Missense
SNP
0.185
2--
DPP7p.T278A
Missense
SNP
0.457
2--
DPPA3-
-
-
-
3Gain-
DPY19L2-
-
-
-
3Gain-
DPY19L4-
-
-
-
4Gain-
DPYS-
-
-
-
4Gain-
DRAM1-
-
-
-
3Gain-
DRC1p.R117H
Missense
SNP
0.605
2--
DSCC1-
-
-
-
4Gain-
DSP-
-
-
-
1Loss-
DTX1-
-
-
-
3Gain-
DTX3-
-
-
-
3Gain-
DUPD1p.V94M
Missense
SNP
0.531
2--
DUSP16-
-
-
-
3Gain-
DUSP6-
-
-
-
3Gain-
DYDC1-
-
-
-
1Loss-
DYDC2-
-
-
-
1Loss-
DYNLL1-
-
-
-
3Gain-
DYRK2-
-
-
-
3Gain-
DYRK4-
-
-
-
3Gain-
E2F5-
-
-
-
4Gain-
E2F7-
-
-
-
3Gain-
EBAG9-
-
-
-
4Gain-
EEA1-
-
-
-
3Gain-
EEF1AKMT3-
-
-
-
3Gain-
EEF1D-
-
-
-
4Gain-
EEF1E1-
-
-
-
1Loss-
EEF1E1-BLOC1S5-
-
-
-
1Loss-
EFCAB1-
-
-
-
4Gain-
EFR3A-
-
-
-
3Gain-
EFTUD2p.R578*
Nonsense
SNP
0.534
2--
EID3-
-
-
-
3Gain-
EIF2B1-
-
-
-
3Gain-
EIF2S3B-
-
-
-
3Gain-
EIF3E-
-
-
-
4Gain-
EIF3H-
-
-
-
4Gain-
EIF4B-
-
-
-
3Gain-
EIF5AL1-
-
-
-
1Loss-
ELF2-
-
-
-
2-NDUFC1--ELF2
ELK3-
-
-
-
3Gain-
ELOC-
-
-
-
4Gain-
EMC2-
-
-
-
4Gain-
EMG1-
-
-
-
3Gain-
EML6p.R1767Q
Missense
SNP
0.487
2--
EMP1-
-
-
-
3Gain-
ENDOU-
-
-
-
3Gain-
ENO2-
-
-
-
3Gain-
ENPP2-
-
-
-
4Gain-
ENY2-
-
-
-
4Gain-
EP400-
-
-
-
3Gain-
EPG5p.R1454H
Missense
SNP
0.443
2--
EPHA10p.A118T
Missense
SNP
0.484
2--
EPPK1p.H1914R
Missense
SNP
0.763
4Gain-
EPS8-
-
-
-
3Gain-
EPYC-
-
-
-
3Gain-
ERBB3-
-
-
-
3Gain-
ERC1-
-
-
-
3Gain-
ERGIC2-
-
-
-
3Gain-
ERICH5-
-
-
-
4Gain-
ERP27-
-
-
-
3Gain-
ERP29-
-
-
-
3Gain-
ESPL1-
-
-
-
3Gain-
ESPNLp.G362V
Missense
SNP
0.568
2--
ESRP1-
-
-
-
4Gain-
ESYT1-
-
-
-
3Gain-
ETFBKMT-
-
-
-
3Gain-
ETFRF1-
-
-
-
3Gain-
ETNK1-
-
-
-
3Gain-
ETV6-
-
-
-
3Gain-
EVC2p.A814T
Missense
SNP
0.527
2--
EXOSC4-
-
-
-
4Gain-
EXPH5p.V1110I
Missense
SNP
0.524
2--
EXT1-
-
-
-
4Gain-
EYA1-
-
-
-
4Gain-
FABP12-
-
-
-
4Gain-
FABP4-
-
-
-
4Gain-
FABP5-
-
-
-
4Gain-
FABP9-
-
-
-
4Gain-
FAIM2-
-
-
-
3Gain-
FAM110Bp.D57E
Missense
SNP
0.226
4Gain-
FAM120Bp.V867I
Missense
SNP
0.491
2--
FAM135B-
-
-
-
3Gain-
FAM172Ap.R87W
Missense
SNP
0.506
2--
FAM184Bp.A138V
Missense
SNP
0.591
2--
FAM186A-
-
-
-
3Gain-
FAM186B-
-
-
-
3Gain-
FAM19A2-
-
-
-
3Gain-
FAM216A-
-
-
-
3Gain-
FAM222A-
-
-
-
3Gain-
FAM234B-
-
-
-
3Gain-
FAM49B-
-
-
-
3Gain-
FAM71C-
-
-
-
3Gain-
FAM83A-
-
-
-
4Gain-
FAM83H-
-
-
-
4Gain-
FAM84B-
-
-
-
3Gain-
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
4Gain-
FAR2-
-
-
-
3Gain-
FAT4p.G3345D
Missense
SNP
0.490
2--
FBN1p.V764I
Missense
SNP
0.481
2--
FBRSL1-
-
-
-
3Gain-
FBXL14-
-
-
-
3Gain-
FBXL6-
-
-
-
4Gain-
FBXO21-
-
-
-
3Gain-
FBXO32-
-
-
-
3Gain-
FBXO36-
-
-
-
1Loss-
FBXO4p.R178Q
Missense
SNP
0.157
2--
FBXO40-
-
-
-
3Gain-
FBXO43-
-
-
-
4Gain-
FBXW8-
-
-
-
3Gain-
FCGR1A-
-
-
-
1Loss-
FER1L6-
-
-
-
3Gain-
FERD3Lp.R113W
Missense
SNP
0.506
2--
FGD4-
-
-
-
3Gain-
FGD5p.A130V
Missense
SNP
0.544
2--
FGD6-
-
-
-
3Gain-
FGF23-
-
-
-
3Gain-
FGF6-
-
-
-
3Gain-
FGFR1OP2-
-
-
-
3Gain-
FICD-
-
-
-
3Gain-
FIGNL2-
-
-
-
3Gain-
FKBP11-
-
-
-
3Gain-
FKBP4-
-
-
-
3Gain-
FLRT2-
-
-
-
3Gain-
FMNL3-
-
-
-
3Gain-
FOXH1-
-
-
-
4Gain-
FOXJ2-
-
-
-
3Gain-
FOXM1-
-
-
-
3Gain-
FOXN4-
-
-
-
3Gain-
FREM2p.A202T
Missense
SNP
0.543
2--
FRS2-
-
-
-
3Gain-
FRYp.Q2102L
Missense
SNP
0.446
2--
FSBP-
-
-
-
4Gain-
FZD10-
-
-
-
3Gain-
FZD6-
-
-
-
4Gain-
FZR1p.E105K
Missense
SNP
0.503
2--
GABARAPL1-
-
-
-
3Gain-
GABRA6p.V232A
Missense
SNP
0.453
2--
GALNT11-
-
-
-
1Loss-
GALNT6-
-
-
-
3Gain-
GALNT8-
-
-
-
3Gain-
GALNT9-
-
-
-
3Gain-
GALNTL5-
-
-
-
1Loss-
GANp.T154I
Missense
SNP
0.380
2--
GAPDH-
-
-
-
3Gain-
GAS2L3-
-
-
-
3Gain-
GATC-
-
-
-
3Gain-
GBE1-
-
-
-
3Gain-
GCN1-
-
-
-
3Gain-
GDAP1-
-
-
-
4Gain-
GDF11-
-
-
-
3Gain-
GDF3-
-
-
-
3Gain-
GDF6-
-
-
-
4Gain-
GEM-
-
-
-
4Gain-
GGH-
-
-
-
4Gain-
GIMAP1p.R52W
Missense
SNP
0.523
2--
GIT2-
-
-
-
3Gain-
GJA8p.R101C
Missense
SNP
0.511
2--
GLI1-
-
-
-
3Gain-
GLI4-
-
-
-
4Gain-
GLIPR1-
-
-
-
3Gain-
GLIPR1L1-
-
-
-
3Gain-
GLIPR1L2-
-
-
-
3Gain-
GLS2-
-
-
-
3Gain-
GLT1D1-
-
-
-
3Gain-
GLT8D2-
-
-
-
3Gain-
GLTP-
-
-
-
3Gain-
GML-
-
-
-
3Gain-
GNALp.T11M
Missense
SNP
0.482
2--
GNB3-
-
-
-
3Gain-
GNPTAB-
-
-
-
3Gain-
GNS-
-
-
-
3Gain-
GOLGA3-
-
-
-
3Gain-
GOLGB1-
-
-
-
3Gain-
GOLT1B-
-
-
-
3Gain-
GPAA1-
-
-
-
4Gain-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPD1-
-
-
-
3Gain-
GPIHBP1-
-
-
-
4Gain-
GPN3-
-
-
-
3Gain-
GPR162-
-
-
-
3Gain-
GPR182-
-
-
-
3Gain-
GPR19-
-
-
-
3Gain-
GPR20-
-
-
-
3Gain-
GPR84-
-
-
-
3Gain-
GPR88p.A82T
Missense
SNP
0.537
2--
GPRC5A-
-
-
-
3Gain-
GPRC5D-
-
-
-
3Gain-
GPT-
-
-
-
4Gain-
GRASP-
-
-
-
3Gain-
GRHL2-
-
-
-
4Gain-
GRIK1p.Q9P
Missense
SNP
0.417
2--
GRIN2Bp.P1194L
Missense
SNP
0.673
3Gain-
GRINA-
-
-
-
4Gain-
GRIP1-
-
-
-
3Gain-
GRM7p.A648V
Missense
SNP
0.486
2--
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
4Gain-
GSG1-
-
-
-
3Gain-
GTF2H3-
-
-
-
3Gain-
GTSF1-
-
-
-
3Gain-
GUCY2C-
-
-
-
3Gain-
GXYLT1-
-
-
-
3Gain-
GYS2-
-
-
-
3Gain-
H1FNT-
-
-
-
3Gain-
H2AFJ-
-
-
-
3Gain-
H3F3C-
-
-
-
3Gain-
HAL-
-
-
-
3Gain-
HAS2-
-
-
-
4Gain-
HCAR1-
-
-
-
3Gain-
HCAR2-
-
-
-
3Gain-
HCAR3-
-
-
-
3Gain-
HCFC2-
-
-
-
3Gain-
HCLS1-
-
-
-
3Gain-
HDAC7-
-
-
-
3Gain-
HEBP1-
-
-
-
3Gain-
HECTD4-
-
-
-
3Gain-
HELB-
-
-
-
3Gain-
HELZ2p.L946P
Missense
SNP
0.152
2--
HEY1-
-
-
-
4Gain-
HGH1-
-
-
-
4Gain-
HHLA1-
-
-
-
3Gain-
HIGD1C-
-
-
-
3Gain-
HIP1R-
-
-
-
3Gain-
HIPK1p.A744T
Missense
SNP
0.453
2--
HIST2H2AA3-
-
-
-
1Loss-
HIST2H2AA4-
-
-
-
1Loss-
HIST2H2AB-
-
-
-
1Loss-
HIST2H2AC-
-
-
-
1Loss-
HIST2H2BE-
-
-
-
1Loss-
HIST2H2BF-
-
-
-
1Loss-
HIST2H3A-
-
-
-
1Loss-
HIST2H3C-
-
-
-
1Loss-
HIST2H3D-
-
-
-
1Loss-
HIST2H4A-
-
-
-
1Loss-
HIST2H4B-
-
-
-
1Loss-
HIST4H4-
-
-
-
3Gain-
HMGA2-
-
-
-
3Gain-
HNF1Ap.A209T
Missense
SNP
0.586
3Gain-
HNF4G-
-
-
-
4Gain-
HNRNPA1-
-
-
-
3Gain-
HNRNPCL1-
-
-
-
1Loss-
HNRNPCL2-
-
-
-
1Loss-
HNRNPCL3-
-
-
-
1Loss-
HNRNPCL4-
-
-
-
1Loss-
HOXC10-
-
-
-
3Gain-
HOXC11-
-
-
-
3Gain-
HOXC12-
-
-
-
3Gain-
HOXC13-
-
-
-
3Gain-
HOXC4-
-
-
-
3Gain-
HOXC5-
-
-
-
3Gain-
HOXC6-
-
-
-
3Gain-
HOXC8-
-
-
-
3Gain-
HOXC9-
-
-
-
3Gain-
HPD-
-
-
-
3Gain-
HRK-
-
-
-
3Gain-
HS6ST1p.Y243*
Nonsense
SNP
0.412
2--
HSD17B6-
-
-
-
3Gain-
HSF1-
-
-
-
4Gain-
HSP90B1-
-
-
-
3Gain-
HSPA1A-
-
-
-
1Loss-
HSPA1B-
-
-
-
1Loss-
HSPB6p.R27C
Missense
SNP
0.630
2--
HSPB8-
-
-
-
3Gain-
HTTp.A2818T
Missense
SNP
0.473
2--
HUNKp.A236T
Missense
SNP
0.539
2--
HVCN1-
-
-
-
3Gain-
IAPP-
-
-
-
3Gain-
IFFO1-
-
-
-
3Gain-
IFNG-
-
-
-
3Gain-
IFNLR1p.T216A
Missense
SNP
0.167
2--
IFT140p.T929M
Missense
SNP
0.450
2--
IFT81-
-
-
-
3Gain-
IGF1-
-
-
-
3Gain-
IGFBP6-
-
-
-
3Gain-
IKBIP-
-
-
-
3Gain-
IKZF4-
-
-
-
3Gain-
IL16p.C318R
Missense
SNP
0.571
2--
IL1RAPp.P508Q
Missense
SNP
0.454
2--
IL21Rp.S364N
Missense
SNP
0.484
2--
IL22-
-
-
-
3Gain-
IL23A-
-
-
-
3Gain-
IL26-
-
-
-
3Gain-
IL31-
-
-
-
3Gain-
IL36RNp.P117L
Missense
SNP
0.476
2--
IL7-
-
-
-
4Gain-
IMPA1-
-
-
-
4Gain-
IMPAD1-
-
-
-
4Gain-
ING4-
-
-
-
3Gain-
ING5p.V167I
Missense
SNP
0.550
2--
INHBC-
-
-
-
3Gain-
INHBE-
-
-
-
3Gain-
INTS13-
-
-
-
3Gain-
INTS5p.V355I
Missense
SNP
0.408
2--
INTS8-
-
-
-
4Gain-
IPO8-
-
-
-
3Gain-
IQANK1-
-
-
-
4Gain-
IQCB1-
-
-
-
3Gain-
IQCD-
-
-
-
3Gain-
IQGAP3p.X1019_splice
Splice_Site
SNP
0.414
2--
IQSEC3-
-
-
-
3Gain-
IRAK3-
-
-
-
3Gain-
IRAK4-
-
-
-
3Gain-
IRGQp.A494V
Missense
SNP
0.449
2--
IRX5p.S227L
Missense
SNP
0.575
2--
ISCU-
-
-
-
3Gain-
ISLRp.S300F
Missense
SNP
0.484
2--
ISOC2p.V189I
Missense
SNP
0.494
2--
IST1p.R122Q
Missense
SNP
0.408
2--
ISYNA1p.G255S
Missense
SNP
0.366
2--
ITFG2-
-
-
-
3Gain-
ITGA5-
-
-
-
3Gain-
ITGA7-
-
-
-
3Gain-
ITGAEp.Q74K
Missense
SNP
0.314
2--
ITGB7-
-
-
-
3Gain-
ITPR2-
-
-
-
3Gain-
JMJD1C-
-
-
-
1Loss-
JPH1-
-
-
-
4Gain-
JRK-
-
-
-
3Gain-
KANSL2-
-
-
-
3Gain-
KCNA1-
-
-
-
3Gain-
KCNA5-
-
-
-
3Gain-
KCNA6-
-
-
-
3Gain-
KCNB2-
-
-
-
4Gain-
KCNC2-
-
-
-
3Gain-
KCNH3-
-
-
-
3Gain-
KCNIP3p.P211S
Missense
SNP
0.475
2--
KCNJ8-
-
-
-
3Gain-
KCNK10p.P42L
Missense
SNP
0.467
2--
KCNK15p.A143V
Missense
SNP
0.503
2--
KCNK9-
-
-
-
3Gain-
KCNMB4-
-
-
-
3Gain-
KCNQ3-
-
-
-
3Gain-
KCNS2-
-
-
-
4Gain-
KCNT1p.R365C
Missense
SNP
0.521
2--
KCNV1-
-
-
-
4Gain-
KCTD10-
-
-
-
3Gain-
KDM2B-
-
-
-
3Gain-
KDM5A-
-
-
-
3Gain-
KERA-
-
-
-
3Gain-
KHDRBS3-
-
-
-
3Gain-
KIAA0319p.D556N
Missense
SNP
0.481
2--
KIAA1161p.R298C
Missense
SNP
0.503
NDND-
KIAA1328p.G472W
Missense
SNP
0.591
2--
KIAA1551-
-
-
-
3Gain-
KIF21A-
-
-
-
3Gain-
KIF5A-
-
-
-
3Gain-
KIFC2-
-
-
-
4Gain-
KITp.R956W
Missense
SNP
0.553
2--
KITLG-
-
-
-
3Gain-
KLF10-
-
-
-
4Gain-
KLHL1-
-
-
-
3Gain-
KLHL38-
-
-
-
3Gain-
KLHL42-
-
-
-
3Gain-
KLRB1-
-
-
-
3Gain-
KLRC1-
-
-
-
3Gain-
KLRC2-
-
-
-
3Gain-
KLRC3-
-
-
-
3Gain-
KLRC4-
-
-
-
3Gain-
KLRC4-KLRK1-
-
-
-
3Gain-
KLRD1-
-
-
-
3Gain-
KLRF1-
-
-
-
3Gain-
KLRF2-
-
-
-
3Gain-
KLRG1-
-
-
-
3Gain-
KLRK1-
-
-
-
3Gain-
KMT2C-
-
-
-
1Loss-
KMT2D-
-
-
-
3Gain-
KMT5A-
-
-
-
3Gain-
KNTC1-
-
-
-
3Gain-
KRAS-
-
-
-
3Gain-
KRR1-
-
-
-
3Gain-
KRT1-
-
-
-
3Gain-
KRT18-
-
-
-
3Gain-
KRT2-
-
-
-
3Gain-
KRT27p.T324M
Missense
SNP
0.483
2--
KRT3-
-
-
-
3Gain-
KRT4-
-
-
-
3Gain-
KRT5-
-
-
-
3Gain-
KRT6A-
-
-
-
3Gain-
KRT6B-
-
-
-
3Gain-
KRT6C-
-
-
-
3Gain-
KRT7-
-
-
-
3Gain-
KRT71-
-
-
-
3Gain-
KRT72-
-
-
-
3Gain-
KRT73-
-
-
-
3Gain-
KRT74-
-
-
-
3Gain-
KRT75-
-
-
-
3Gain-
KRT76-
-
-
-
3Gain-
KRT77-
-
-
-
3Gain-
KRT78-
-
-
-
3Gain-
KRT79-
-
-
-
3Gain-
KRT8-
-
-
-
3Gain-
KRT80-
-
-
-
3Gain-
KRT81-
-
-
-
3Gain-
KRT82-
-
-
-
3Gain-
KRT83-
-
-
-
3Gain-
KRT84-
-
-
-
3Gain-
KRT85-
-
-
-
3Gain-
KRT86-
-
-
-
3Gain-
KRTAP10-1-
-
-
-
1Loss-
KRTAP10-10-
-
-
-
1Loss-
KRTAP10-11-
-
-
-
1Loss-
KRTAP10-2-
-
-
-
1Loss-
KRTAP10-3-
-
-
-
1Loss-
KRTAP10-4-
-
-
-
1Loss-
KRTAP10-5-
-
-
-
1Loss-
KRTAP10-6-
-
-
-
1Loss-
KRTAP10-7-
-
-
-
1Loss-
KRTAP10-8-
-
-
-
1Loss-
KRTAP10-9-
-
-
-
1Loss-
KRTAP12-4-
-
-
-
1Loss-
KSR2-
-
-
-
3Gain-
KYAT3p.R429C
Missense
SNP
0.529
2--
L3MBTL1p.N520S
Missense
SNP
0.397
2--
L3MBTL4p.R420C
Missense
SNP
0.448
2--
LACRT-
-
-
-
3Gain-
LACTB2-
-
-
-
4Gain-
LAG3-
-
-
-
3Gain-
LALBA-
-
-
-
3Gain-
LAMA1p.A85V
Missense
SNP
0.459
2--
LAPTM4B-
-
-
-
4Gain-
LARP4-
-
-
-
3Gain-
LAX1p.A47T
Missense
SNP
0.514
2--
LDHB-
-
-
-
3Gain-
LEMD3-
-
-
-
3Gain-
LETMD1-
-
-
-
3Gain-
LGR5-
-
-
-
3Gain-
LHX5-
-
-
-
3Gain-
LIMA1-
-
-
-
3Gain-
LIMCH1p.A423V
Missense
SNP
0.448
2--
LIN7A-
-
-
-
3Gain-
LLPH-
-
-
-
3Gain-
LMBR1L-
-
-
-
3Gain-
LMNTD1-
-
-
-
3Gain-
LMO3-
-
-
-
3Gain-
LMOD2p.D253N
Missense
SNP
0.510
2--
LPAR5-
-
-
-
3Gain-
LPCAT3-
-
-
-
3Gain-
LRBAp.L654I
Missense
SNP
0.236
2--
LRCOL1-
-
-
-
3Gain-
LRIG3-
-
-
-
3Gain-
LRMP-
-
-
-
3Gain-
LRP1-
-
-
-
3Gain-
LRP12-
-
-
-
4Gain-
LRP6-
-
-
-
3Gain-
LRRC10-
-
-
-
3Gain-
LRRC14-
-
-
-
4Gain-
LRRC23-
-
-
-
3Gain-
LRRC24-
-
-
-
4Gain-
LRRC37A3p.N972D
Missense
SNP
0.396
2--
LRRC38-
-
-
-
1Loss-
LRRC43-
-
-
-
3Gain-
LRRC6-
-
-
-
3Gain-
LRRC69-
-
-
-
4Gain-
LRRCC1p.A574V
Missense
SNP
0.700
4Gain-
LRRIQ1-
-
-
-
3Gain-
LRRK2-
-
-
-
3Gain-
LRTM2-
-
-
-
3Gain-
LTA4H-
-
-
-
3Gain-
LTBR-
-
-
-
3Gain-
LUM-
-
-
-
3Gain-
LY6D-
-
-
-
3Gain-
LY6E-
-
-
-
4Gain-
LY6H-
-
-
-
4Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
4Gain-
LY96-
-
-
-
4Gain-
LYN-
-
-
-
4Gain-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD2-
-
-
-
3Gain-
LYPLA1-
-
-
-
4Gain-
LYZ-
-
-
-
3Gain-
M6PR-
-
-
-
3Gain-
MAF1-
-
-
-
4Gain-
MAFA-
-
-
-
4Gain-
MAFBp.A107T
Missense
SNP
0.515
2--
MAGOHB-
-
-
-
3Gain-
MAL2-
-
-
-
4Gain-
MAML3p.R824Q
Missense
SNP
0.551
2--
MAN2A2p.R728H
Missense
SNP
0.419
2--
MANSC1-
-
-
-
3Gain-
MANSC4-
-
-
-
3Gain-
MAP3K12-
-
-
-
3Gain-
MAPK15-
-
-
-
4Gain-
MAPKAPK3p.D187N
Missense
SNP
0.500
2--
MAPKAPK5-
-
-
-
3Gain-
MARCH9-
-
-
-
3Gain-
MARS-
-
-
-
3Gain-
MAT1A-
-
-
-
1Loss-
MATN2-
-
-
-
4Gain-
MBD6-
-
-
-
3Gain-
MBTPS2p.R67Q
Missense
SNP
1.000
NDND-
MC2R-
-
-
-
1Loss-
MCM4-
-
-
-
4Gain-
MCMDC2-
-
-
-
4Gain-
MCRS1-
-
-
-
3Gain-
MDM1-
-
-
-
3Gain-
MDM2-
-
-
-
3Gain-
MED21-
-
-
-
3Gain-
MED30-
-
-
-
4Gain-
METAP2-
-
-
-
3Gain-
METTL1-
-
-
-
3Gain-
METTL25-
-
-
-
3Gain-
METTL7A-
-
-
-
3Gain-
METTL7B-
-
-
-
3Gain-
MFAP5-
-
-
-
3Gain-
MFSD3-
-
-
-
4Gain-
MFSD5-
-
-
-
3Gain-
MGAT4C-
-
-
-
3Gain-
MGP-
-
-
-
3Gain-
MGST1-
-
-
-
3Gain-
MIP-
-
-
-
3Gain-
MKI67p.R2359W
Missense
SNP
0.489
2--
MLEC-
-
-
-
3Gain-
MLF2-
-
-
-
3Gain-
MLXIP-
-
-
-
3Gain-
MMAB-
-
-
-
3Gain-
MMP16-
-
-
-
4Gain-
MMP17-
-
-
-
3Gain-
MMP19-
-
-
-
3Gain-
MON2-
-
-
-
3Gain-
MORN3-
-
-
-
3Gain-
MOS-
-
-
-
4Gain-
MPHOSPH9-
-
-
-
3Gain-
MROH1-
-
-
-
4Gain-
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
4Gain-
MRPL13-
-
-
-
4Gain-
MRPL15-
-
-
-
4Gain-
MRPL42-
-
-
-
3Gain-
MRPL51-
-
-
-
3Gain-
MRPS28-
-
-
-
4Gain-
MRPS35-
-
-
-
3Gain-
MSC-
-
-
-
4Gain-
MSI1-
-
-
-
3Gain-
MSRB3-
-
-
-
3Gain-
MTBP-
-
-
-
4Gain-
MTCL1p.L33M
Missense
SNP
0.484
2--
MTDH-
-
-
-
4Gain-
MTERF2-
-
-
-
3Gain-
MTERF3-
-
-
-
4Gain-
MTFR1-
-
-
-
4Gain-
MTMR11-
-
-
-
1Loss-
MTMR8p.R17H
Missense
SNP
1.000
NDND-
MTSS1-
-
-
-
3Gain-
MUC17p.R3865C
Missense
SNP
0.525
2--
MUC19-
-
-
-
3Gain-
MUCL1-
-
-
-
3Gain-
MVK-
-
-
-
3Gain-
MYBL1-
-
-
-
4Gain-
MYBPC1-
-
-
-
3Gain-
MYC-
-
-
-
3Gain-
MYF5-
-
-
-
3Gain-
MYF6-
-
-
-
3Gain-
MYL2-
-
-
-
3Gain-
MYL6-
-
-
-
3Gain-
MYL6B-
-
-
-
3Gain-
MYLKp.S1147F
Missense
SNP
0.442
2--
MYO1A-
-
-
-
3Gain-
MYO1H-
-
-
-
3Gain-
MYRFL-
-
-
-
3Gain-
MYT1p.R231H
Missense
SNP
0.488
2--
MYT1Lp.Y823C
p.R558H
Missense
Missense
SNP
SNP
0.510
0.438
2--
NAA25-
-
-
-
3Gain-
NAB2-
-
-
-
3Gain-
NABP2-
-
-
-
3Gain-
NACA-
-
-
-
3Gain-
NANOG-
-
-
-
3Gain-
NANOGNB-
-
-
-
3Gain-
NAP1L1-
-
-
-
3Gain-
NAPRT-
-
-
-
4Gain-
NAV3-
-
-
-
3Gain-
NBN-
-
-
-
4Gain-
NBPF19-
-
-
-
1Loss-
NBPF9-
-
-
-
1Loss-
NCALD-
-
-
-
4Gain-
NCAPD2-
-
-
-
3Gain-
NCKAP1L-
-
-
-
3Gain-
NCKAP5L-
-
-
-
3Gain-
NCOA2-
-
-
-
4Gain-
NCOR2-
-
-
-
3Gain-
NDRG1-
-
-
-
3Gain-
NDUFA12-
-
-
-
3Gain-
NDUFA4L2-
-
-
-
3Gain-
NDUFA9-
-
-
-
3Gain-
NDUFAF6-
-
-
-
4Gain-
NDUFB9-
-
-
-
3Gain-
NDUFC1-
-
-
-
2-NDUFC1--ELF2
NECAB1-
-
-
-
4Gain-
NECAP1-
-
-
-
3Gain-
NEDD1-
-
-
-
3Gain-
NELL2-
-
-
-
3Gain-
NEMP1-
-
-
-
3Gain-
NEURL3p.G163E
Missense
SNP
0.162
2--
NEUROD4-
-
-
-
3Gain-
NFE2-
-
-
-
3Gain-
NFYB-
-
-
-
3Gain-
NINJ2-
-
-
-
3Gain-
NIPAL2-
-
-
-
4Gain-
NKAIN3-
-
-
-
4Gain-
NLRP7p.A354T
Missense
SNP
0.413
2--
NOC4L-
-
-
-
3Gain-
NOP2-
-
-
-
3Gain-
NOS1-
-
-
-
3Gain-
NOS3p.V76M
Missense
SNP
0.439
2--
NOV-
-
-
-
4Gain-
NPBWR1-
-
-
-
4Gain-
NPFF-
-
-
-
3Gain-
NPR2p.R116H
Missense
SNP
0.498
2--
NR1H4-
-
-
-
3Gain-
NR2C1-
-
-
-
3Gain-
NR4A1-
-
-
-
3Gain-
NRBF2-
-
-
-
1Loss-
NRBP2-
-
-
-
4Gain-
NRIP2-
-
-
-
3Gain-
NSMAF-
-
-
-
4Gain-
NSMCE2-
-
-
-
3Gain-
NT5DC3-
-
-
-
3Gain-
NTF3-
-
-
-
3Gain-
NTN4-
-
-
-
3Gain-
NTS-
-
-
-
3Gain-
NUAK1-
-
-
-
3Gain-
NUCB1p.R189H
Missense
SNP
0.458
2--
NUDCD1-
-
-
-
4Gain-
NUDT4-
-
-
-
3Gain-
NUP107-
-
-
-
3Gain-
NUP37-
-
-
-
3Gain-
NXPH4-
-
-
-
3Gain-
OAS1-
-
-
-
3Gain-
OAS2-
-
-
-
3Gain-
OAS3-
-
-
-
3Gain-
OASL-
-
-
-
3Gain-
OBSCNp.C4655Y
Missense
SNP
0.101
2--
OC90-
-
-
-
3Gain-
ODF1-
-
-
-
4Gain-
OGFOD2-
-
-
-
3Gain-
OLFM4-
-
-
-
3Gain-
OLR1-
-
-
-
3Gain-
OPLAH-
-
-
-
4Gain-
OPRK1-
-
-
-
4Gain-
OR10A7-
-
-
-
3Gain-
OR10AD1-
-
-
-
3Gain-
OR10J3p.I136T
Missense
SNP
0.533
2--
OR10P1-
-
-
-
3Gain-
OR2A1-
-
-
-
1Loss-
OR2A42-
-
-
-
1Loss-
OR2A7-
-
-
-
1Loss-
OR2AP1-
-
-
-
3Gain-
OR5BS1P-
-
-
-
3Gain-
OR6B3p.R227H
Missense
SNP
0.570
2--
OR6C1-
-
-
-
3Gain-
OR6C2-
-
-
-
3Gain-
OR6C3-
-
-
-
3Gain-
OR6C4-
-
-
-
3Gain-
OR6C6-
-
-
-
3Gain-
OR6C65-
-
-
-
3Gain-
OR6C68-
-
-
-
3Gain-
OR6C70-
-
-
-
3Gain-
OR6C74-
-
-
-
3Gain-
OR6C75-
-
-
-
3Gain-
OR6C76-
-
-
-
3Gain-
OR7E47P-
-
-
-
3Gain-
OR8S1-
-
-
-
3Gain-
OR9K2-
-
-
-
3Gain-
ORAI1-
-
-
-
3Gain-
ORMDL2-
-
-
-
3Gain-
OS9-
-
-
-
3Gain-
OSBPL8-
-
-
-
3Gain-
OSGIN2-
-
-
-
4Gain-
OSR2-
-
-
-
4Gain-
OTOGL-
-
-
-
3Gain-
OTUD6B-
-
-
-
4Gain-
OVCH1-
-
-
-
3Gain-
OXR1-
-
-
-
4Gain-
P2RX2-
-
-
-
3Gain-
P2RX4-
-
-
-
3Gain-
P2RX7-
-
-
-
3Gain-
P3H3-
-
-
-
3Gain-
PA2G4-
-
-
-
3Gain-
PABPC1-
-
-
-
4Gain-
PAG1-
-
-
-
4Gain-
PAH-
-
-
-
3Gain-
PAN2-
-
-
-
3Gain-
PARP10-
-
-
-
4Gain-
PARP11-
-
-
-
3Gain-
PARPBP-
-
-
-
3Gain-
PATE3p.R54M
Missense
SNP
0.473
2--
PAWR-
-
-
-
3Gain-
PAX3p.V148M
Missense
SNP
0.482
2--
PBX4p.T154A
Missense
SNP
0.200
2--
PCBP2-
-
-
-
3Gain-
PCDH10p.L333M
Missense
SNP
0.502
2--
PCDH17-
-
-
-
3Gain-
PCDH8-
-
-
-
3Gain-
PCDH9-
-
-
-
3Gain-
PCDHA7p.T390M
Missense
SNP
0.428
2--
PCED1B-
-
-
-
3Gain-
PCMTD1-
-
-
-
4Gain-
PDCLp.E51K
Missense
SNP
0.438
2--
PDE1B-
-
-
-
3Gain-
PDE3A-
-
-
-
3Gain-
PDE6H-
-
-
-
3Gain-
PDE7A-
-
-
-
4Gain-
PDP1-
-
-
-
4Gain-
PDYNp.K169N
Missense
SNP
0.482
2--
PDZRN3p.A782V
Missense
SNP
0.197
2--
PDZRN4-
-
-
-
3Gain-
PEBP1-
-
-
-
3Gain-
PENK-
-
-
-
4Gain-
PEX2-
-
-
-
4Gain-
PEX5-
-
-
-
3Gain-
PFDN5-
-
-
-
3Gain-
PFKM-
-
-
-
3Gain-
PFKPp.G708*
Nonsense
SNP
0.440
2--
PGAM5-
-
-
-
3Gain-
PHB2-
-
-
-
3Gain-
PHC1-
-
-
-
3Gain-
PHETA1-
-
-
-
3Gain-
PHF2p.V192I
Missense
SNP
0.121
2--
PHF20L1-
-
-
-
3Gain-
PHIPp.A516T
Missense
SNP
0.470
2--
PHKA1p.V54A
Missense
SNP
1.000
NDND-
PHKG1p.N97S
Missense
SNP
0.368
2--
PHLDA1-
-
-
-
3Gain-
PI15-
-
-
-
4Gain-
PIANP-
-
-
-
3Gain-
PIK3C2G-
-
-
-
3Gain-
PIK3R1p.R461*
Nonsense
SNP
0.566
2--
PIP4K2C-
-
-
-
3Gain-
PIP4P2-
-
-
-
4Gain-
PIP5K1Ap.A201V
Missense
SNP
0.405
2--
PITPNM2-
-
-
-
3Gain-
PIWIL1-
-
-
-
3Gain-
PKHD1L1-
-
-
-
4Gain-
PKIA-
-
-
-
4Gain-
PKP2-
-
-
-
3Gain-
PLA2G1B-
-
-
-
3Gain-
PLA2G4A-
-
-
-
3Gain-
PLA2G4Ep.R423C
Missense
SNP
0.579
2--
PLAC9-
-
-
-
1Loss-
PLAG1-
-
-
-
4Gain-
PLBD1-
-
-
-
3Gain-
PLBD2-
-
-
-
3Gain-
PLCB3p.E502K
Missense
SNP
0.434
2--
PLCZ1-
-
-
-
3Gain-
PLEC-
-
-
-
4Gain-
PLEKHA5-
-
-
-
3Gain-
PLEKHF2-
-
-
-
4Gain-
PLEKHG6-
-
-
-
3Gain-
PLEKHG7-
-
-
-
3Gain-
PLGp.M186I
Missense
SNP
0.520
2--
PLXNA2p.R1397C
Missense
SNP
0.500
2--
PLXNC1-
-
-
-
3Gain-
PMCH-
-
-
-
3Gain-
PMEL-
-
-
-
3Gain-
PMLp.A263V
Missense
SNP
0.487
2--
PMP2-
-
-
-
4Gain-
PNLIPp.R128Q
Missense
SNP
0.579
2--
PNPLA5p.A91T
Missense
SNP
0.504
2--
POC1B-
-
-
-
3Gain-
POC1B-GALNT4-
-
-
-
3Gain-
POLE-
-
-
-
3Gain-
POLR2K-
-
-
-
4Gain-
POLR3B-
-
-
-
3Gain-
POP1-
-
-
-
4Gain-
POP5-
-
-
-
3Gain-
POTEC-
-
-
-
1Loss-
POU5F1B-
-
-
-
3Gain-
POU6F1p.R286L
Missense
SNP
0.395
3Gain-
PPDPFL-
-
-
-
4Gain-
PPFIA2-
-
-
-
3Gain-
PPFIBP1-
-
-
-
3Gain-
PPHLN1-
-
-
-
3Gain-
PPM1H-
-
-
-
3Gain-
PPP1CC-
-
-
-
3Gain-
PPP1R12A-
-
-
-
3Gain-
PPP1R16A-
-
-
-
4Gain-
PPP1R1A-
-
-
-
3Gain-
PPP1R42-
-
-
-
4Gain-
PPTC7-
-
-
-
3Gain-
PRAG1-
-
-
-
1Loss-
PRAMEF1-
-
-
-
1Loss-
PRAMEF18-
-
-
-
1Loss-
PRAMEF19-
-
-
-
1Loss-
PRAMEF2-
-
-
-
1Loss-
PRAMEF20-
-
-
-
1Loss-
PRB1-
-
-
-
3Gain-
PRB2-
-
-
-
3Gain-
PRB3-
-
-
-
3Gain-
PRB4-
-
-
-
3Gain-
PRDM14-
-
-
-
4Gain-
PRDM4-
-
-
-
3Gain-
PREX2-
-
-
-
4Gain-
PRH1-
-
-
-
3Gain-
PRH1-PRR4-
-
-
-
3Gain-
PRH2-
-
-
-
3Gain-
PRICKLE1-
-
-
-
3Gain-
PRIM1-
-
-
-
3Gain-
PRKAB1-
-
-
-
3Gain-
PRKAG1-
-
-
-
3Gain-
PRKDC-
-
-
-
4Gain-
PRMT8-
-
-
-
3Gain-
PRPF40B-
-
-
-
3Gain-
PRPH-
-
-
-
3Gain-
PRR13-
-
-
-
3Gain-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR4-
-
-
-
3Gain-
PRRX1p.A162T
Missense
SNP
0.477
2--
PRXL2A-
-
-
-
1Loss-
PSCA-
-
-
-
3Gain-
PSEN2p.G383R
Missense
SNP
0.532
2--
PSG3p.R12C
Missense
SNP
0.527
2--
PSKH2-
-
-
-
4Gain-
PSMD9-
-
-
-
3Gain-
PSPNp.V31M
Missense
SNP
0.527
2--
PTCH2p.V468M
Missense
SNP
0.417
2--
PTDSS1-
-
-
-
4Gain-
PTGES3-
-
-
-
3Gain-
PTGFRNp.R214H
Missense
SNP
0.444
2--
PTHLH-
-
-
-
3Gain-
PTK2-
-
-
-
3Gain-
PTMS-
-
-
-
3Gain-
PTP4A3-
-
-
-
3Gain-
PTPN1p.A423T
Missense
SNP
0.479
2--
PTPN11-
-
-
-
3Gain-
PTPN6-
-
-
-
3Gain-
PTPRB-
-
-
-
3Gain-
PTPRO-
-
-
-
3Gain-
PTPRQ-
-
-
-
3Gain-
PTPRR-
-
-
-
3Gain-
PTPRTp.R854C
Missense
SNP
0.469
2--
PUF60-
-
-
-
4Gain-
PUS1-
-
-
-
3Gain-
PUS7L-
-
-
-
3Gain-
PWP1-
-
-
-
3Gain-
PXDNL-
-
-
-
4Gain-
PXMP2-
-
-
-
3Gain-
PXN-
-
-
-
3Gain-
PYCR3-
-
-
-
4Gain-
PYM1-
-
-
-
3Gain-
PYROXD1-
-
-
-
3Gain-
PZP-
-
-
-
3Gain-
QSOX1p.A726V
Missense
SNP
0.560
2--
R3HDM2-
-
-
-
3Gain-
R3HDM4p.A113T
Missense
SNP
0.571
2--
RAB21-
-
-
-
3Gain-
RAB2A-
-
-
-
4Gain-
RAB35-
-
-
-
3Gain-
RAB3IP-
-
-
-
3Gain-
RAB5B-
-
-
-
3Gain-
RABL6p.P166S
Missense
SNP
0.547
2--
RACGAP1-
-
-
-
3Gain-
RAD21-
-
-
-
4Gain-
RAD51AP1-
-
-
-
3Gain-
RAD51Cp.A87T
Missense
SNP
0.410
2--
RAD52-
-
-
-
3Gain-
RAD54B-
-
-
-
4Gain-
RAD9B-
-
-
-
3Gain-
RALYL-
-
-
-
4Gain-
RAN-
-
-
-
3Gain-
RANBP17p.R1074C
Missense
SNP
0.468
2--
RAP1B-
-
-
-
3Gain-
RAPGEF3-
-
-
-
3Gain-
RARG-
-
-
-
3Gain-
RASAL1-
-
-
-
3Gain-
RASSF3-
-
-
-
3Gain-
RASSF8-
-
-
-
3Gain-
RASSF9-
-
-
-
3Gain-
RB1CC1-
-
-
-
4Gain-
RBFAp.D240V
Missense
SNP
0.419
2--
RBM12B-
-
-
-
4Gain-
RBM19-
-
-
-
3Gain-
RBM27p.P321H
Missense
SNP
0.328
2--
RBMS2-
-
-
-
3Gain-
RBP5-
-
-
-
3Gain-
RCBTB2p.R343Q
Missense
SNP
0.563
2--
RDH10-
-
-
-
4Gain-
RDH16-
-
-
-
3Gain-
RDH5-
-
-
-
3Gain-
RECQL-
-
-
-
3Gain-
RECQL4-
-
-
-
4Gain-
REEP3-
-
-
-
1Loss-
RENBPp.G46V
Missense
SNP
1.000
NDND-
REP15-
-
-
-
3Gain-
RERG-
-
-
-
3Gain-
RERGL-
-
-
-
3Gain-
RFC5-
-
-
-
3Gain-
RFLNA-
-
-
-
3Gain-
RFX4-
-
-
-
3Gain-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGPD8p.S14*
Nonsense
SNP
0.750
2--
RGS20-
-
-
-
4Gain-
RGS22-
-
-
-
4Gain-
RHEBL1-
-
-
-
3Gain-
RHNO1-
-
-
-
3Gain-
RHOBTB2p.H242N
Missense
SNP
0.430
2--
RHOF-
-
-
-
3Gain-
RHPN1-
-
-
-
4Gain-
RIC8B-
-
-
-
3Gain-
RIDA-
-
-
-
4Gain-
RILPL1-
-
-
-
3Gain-
RILPL2-
-
-
-
3Gain-
RIMBP2-
-
-
-
3Gain-
RIMKLB-
-
-
-
3Gain-
RIMS2p.P886S
Missense
SNP
0.226
4Gain-
RIOK1-
-
-
-
1Loss-
RIPK2-
-
-
-
4Gain-
RITA1-
-
-
-
3Gain-
RMDN1-
-
-
-
4Gain-
RND1-
-
-
-
3Gain-
RNF10-
-
-
-
3Gain-
RNF139-
-
-
-
3Gain-
RNF19A-
-
-
-
4Gain-
RNF207p.V467I
Missense
SNP
0.531
2--
RNF34-
-
-
-
3Gain-
RNF41-
-
-
-
3Gain-
RNFT2-
-
-
-
3Gain-
ROBO2p.R852H
Missense
SNP
0.454
2--
RP1-
-
-
-
4Gain-
RPAP3-
-
-
-
3Gain-
RPH3A-
-
-
-
3Gain-
RPL30-
-
-
-
4Gain-
RPL41-
-
-
-
3Gain-
RPL6-
-
-
-
3Gain-
RPL7-
-
-
-
4Gain-
RPL8-
-
-
-
4Gain-
RPLP0-
-
-
-
3Gain-
RPS20-
-
-
-
4Gain-
RPS26-
-
-
-
3Gain-
RRBP1p.A781T
Missense
SNP
0.395
2--
RREB1-
-
-
-
1Loss-
RRM2B-
-
-
-
4Gain-
RRS1-
-
-
-
4Gain-
RSPH3p.R199*
Nonsense
SNP
0.489
2--
RSPO2-
-
-
-
4Gain-
RSRC2-
-
-
-
3Gain-
RUNX1T1-
-
-
-
4Gain-
RXRGp.R188C
Missense
SNP
0.444
2--
RXYLT1-
-
-
-
3Gain-
SAMD12-
-
-
-
4Gain-
SARNP-
-
-
-
3Gain-
SART3-
-
-
-
3Gain-
SBNO1-
-
-
-
3Gain-
SBSPON-
-
-
-
4Gain-
SCAF11-
-
-
-
3Gain-
SCARB1-
-
-
-
3Gain-
SCMH1p.R281W
Missense
SNP
0.584
2--
SCML2p.R75C
Missense
SNP
1.000
NDND-
SCN1Ap.G884S
Missense
SNP
0.511
2--
SCN8A-
-
-
-
3Gain-
SCNN1A-
-
-
-
3Gain-
SCRIB-
-
-
-
4Gain-
SCRT1-
-
-
-
4Gain-
SCX-
-
-
-
4Gain-
SCYL2-
-
-
-
3Gain-
SDC2-
-
-
-
4Gain-
SDCBP-
-
-
-
4Gain-
SDK1p.A1744P
Missense
SNP
0.387
2--
SDR16C5-
-
-
-
4Gain-
SDR9C7-
-
-
-
3Gain-
SDS-
-
-
-
3Gain-
SDSL-
-
-
-
3Gain-
SEL1L3p.W293*
Nonsense
SNP
0.441
2--
SELPLG-
-
-
-
3Gain-
SEMA3A-
-
-
-
1Loss-
SEMA3D-
-
-
-
1Loss-
SEMA3E-
-
-
-
1Loss-
SENP1-
-
-
-
3Gain-
SEPT8p.A126V
Missense
SNP
0.480
2--
SESN1p.Y268C
Missense
SNP
0.284
2--
SESTD1p.S203L
Missense
SNP
0.310
2--
SETD1B-
-
-
-
3Gain-
SEZ6Lp.G378S
Missense
SNP
0.496
2--
SF3B4-
-
-
-
1Loss-
SFSWAP-
-
-
-
3Gain-
SFTPA1-
-
-
-
1Loss-
SFTPA2-
-
-
-
1Loss-
SFTPD-
-
-
-
1Loss-
SGK3-
-
-
-
4Gain-
SH2B3-
-
-
-
3Gain-
SH2D4B-
-
-
-
1Loss-
SH3BP1p.A674V
Missense
SNP
0.478
2--
SHARPIN-
-
-
-
4Gain-
SHEp.R420*
Nonsense
SNP
0.556
2--
SHMT2-
-
-
-
3Gain-
SINHCAF-
-
-
-
3Gain-
SIRT4-
-
-
-
3Gain-
SLA-
-
-
-
3Gain-
SLC10A5-
-
-
-
4Gain-
SLC11A2-
-
-
-
3Gain-
SLC15A4-
-
-
-
3Gain-
SLC15A5-
-
-
-
3Gain-
SLC16A14-
-
-
-
1Loss-
SLC16A7-
-
-
-
3Gain-
SLC17A8-
-
-
-
3Gain-
SLC22A3p.G445V
Missense
SNP
0.476
2--
SLC25A3-
-
-
-
3Gain-
SLC25A32-
-
-
-
4Gain-
SLC26A10-
-
-
-
3Gain-
SLC26A7-
-
-
-
4Gain-
SLC2A13-
-
-
-
3Gain-
SLC2A14-
-
-
-
3Gain-
SLC2A3-
-
-
-
3Gain-
SLC30A8-
-
-
-
4Gain-
SLC35B3-
-
-
-
1Loss-
SLC35E3-
-
-
-
3Gain-
SLC38A1-
-
-
-
3Gain-
SLC38A2-
-
-
-
3Gain-
SLC38A4-
-
-
-
3Gain-
SLC39A4-
-
-
-
4Gain-
SLC39A5-
-
-
-
3Gain-
SLC41A2-
-
-
-
3Gain-
SLC45A4-
-
-
-
3Gain-
SLC48A1-
-
-
-
3Gain-
SLC4A2p.R285Q
Missense
SNP
0.494
2--
SLC4A8-
-
-
-
3Gain-
SLC52A1p.S258N
Missense
SNP
0.152
2--
SLC52A2-
-
-
-
4Gain-
SLC5A8-
-
-
-
3Gain-
SLC6A12-
-
-
-
3Gain-
SLC6A13-
-
-
-
3Gain-
SLC6A15-
-
-
-
3Gain-
SLC7A13-
-
-
-
4Gain-
SLC8B1-
-
-
-
3Gain-
SLCO1A2-
-
-
-
3Gain-
SLCO1B1-
-
-
-
3Gain-
SLCO1B3-
-
-
-
3Gain-
SLCO1B7-
-
-
-
3Gain-
SLCO1C1-
-
-
-
3Gain-
SLCO5A1-
-
-
-
4Gain-
SLFNL1p.Y246C
Missense
SNP
0.515
2--
SLITRK1-
-
-
-
3Gain-
SLITRK5-
-
-
-
3Gain-
SLITRK6-
-
-
-
3Gain-
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SLX4p.A748T
Missense
SNP
0.373
2--
SMAGP-
-
-
-
3Gain-
SMARCC2-
-
-
-
3Gain-
SMARCD1-
-
-
-
3Gain-
SMCO2-
-
-
-
3Gain-
SMCO3-
-
-
-
3Gain-
SMIM8p.R35C
Missense
SNP
0.491
2--
SMUG1-
-
-
-
3Gain-
SNAI2-
-
-
-
4Gain-
SNRNP35-
-
-
-
3Gain-
SNRNP48-
-
-
-
1Loss-
SNRPF-
-
-
-
3Gain-
SNTB1-
-
-
-
4Gain-
SNTG1-
-
-
-
4Gain-
SNX16-
-
-
-
4Gain-
SNX31-
-
-
-
4Gain-
SOAT2-
-
-
-
3Gain-
SOCS2-
-
-
-
3Gain-
SOX11p.R51W
Missense
SNP
0.516
2--
SOX17p.F155S
Missense
SNP
0.272
4Gain-
SOX5-
-
-
-
3Gain-
SP1-
-
-
-
3Gain-
SP100-
-
-
-
1Loss-
SP110-
-
-
-
1Loss-
SP140-
-
-
-
1Loss-
SP140L-
-
-
-
1Loss-
SP7-
-
-
-
3Gain-
SPAG1-
-
-
-
4Gain-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG4p.T413M
Missense
SNP
0.472
2--
SPATC1-
-
-
-
4Gain-
SPATS2-
-
-
-
3Gain-
SPIC-
-
-
-
3Gain-
SPIDR-
-
-
-
4Gain-
SPPL3-
-
-
-
3Gain-
SPRYD3-
-
-
-
3Gain-
SPRYD4-
-
-
-
3Gain-
SPSB2-
-
-
-
3Gain-
SPTA1p.W702C
Missense
SNP
0.416
2--
SPX-
-
-
-
3Gain-
SQLE-
-
-
-
3Gain-
SRGAP1-
-
-
-
3Gain-
SRRM4-
-
-
-
3Gain-
SRSF9-
-
-
-
3Gain-
SSH1-
-
-
-
3Gain-
SSPN-
-
-
-
3Gain-
SSR1-
-
-
-
1Loss-
ST18-
-
-
-
4Gain-
ST3GAL1-
-
-
-
3Gain-
ST8SIA1-
-
-
-
3Gain-
STAB2-
-
-
-
3Gain-
STAC3-
-
-
-
3Gain-
STAT2-
-
-
-
3Gain-
STAT6-
-
-
-
3Gain-
STAU2-
-
-
-
4Gain-
STC2p.S75P
Missense
SNP
0.473
2--
STK3-
-
-
-
4Gain-
STK38L-
-
-
-
3Gain-
STMN2-
-
-
-
4Gain-
STRAP-
-
-
-
3Gain-
STX2-
-
-
-
3Gain-
STYK1-
-
-
-
3Gain-
SUDS3-
-
-
-
3Gain-
SULF1-
-
-
-
4Gain-
SUOX-
-
-
-
3Gain-
SUPT3Hp.R303H
Missense
SNP
0.366
2--
SV2A-
-
-
-
1Loss-
SVOP-
-
-
-
3Gain-
SYBU-
-
-
-
4Gain-
SYCP3-
-
-
-
3Gain-
SYT1-
-
-
-
3Gain-
SYT10-
-
-
-
3Gain-
TAC3-
-
-
-
3Gain-
TAF2-
-
-
-
4Gain-
TAOK3p.R693*
Nonsense
SNP
0.710
3Gain-
TAPBPL-
-
-
-
3Gain-
TARBP2-
-
-
-
3Gain-
TAS1R1p.V225M
Missense
SNP
0.488
2--
TAS2R10-
-
-
-
3Gain-
TAS2R13-
-
-
-
3Gain-
TAS2R14-
-
-
-
3Gain-
TAS2R19-
-
-
-
3Gain-
TAS2R20-
-
-
-
3Gain-
TAS2R30-
-
-
-
3Gain-
TAS2R31-
-
-
-
3Gain-
TAS2R42-
-
-
-
3Gain-
TAS2R46-
-
-
-
3Gain-
TAS2R50-
-
-
-
3Gain-
TAS2R7-
-
-
-
3Gain-
TAS2R8-
-
-
-
3Gain-
TAS2R9-
-
-
-
3Gain-
TATDN1-
-
-
-
3Gain-
TBC1D15-
-
-
-
3Gain-
TBC1D30-
-
-
-
3Gain-
TBC1D31-
-
-
-
4Gain-
TBK1-
-
-
-
3Gain-
TBX5p.G363V
Missense
SNP
0.606
NDND-
TCEA1-
-
-
-
4Gain-
TCF24-
-
-
-
4Gain-
TCHP-
-
-
-
3Gain-
TCP11L2-
-
-
-
3Gain-
TCTN1-
-
-
-
3Gain-
TCTN2-
-
-
-
3Gain-
TDG-
-
-
-
3Gain-
TEAD4-
-
-
-
3Gain-
TERF1-
-
-
-
4Gain-
TESC-
-
-
-
3Gain-
TESPA1-
-
-
-
3Gain-
TEX49-
-
-
-
3Gain-
TEX52-
-
-
-
3Gain-
TFCP2-
-
-
-
3Gain-
TGp.F1417L
Missense
SNP
0.210
3Gain-
TGFBR2p.L375P
Missense
SNP
0.578
2--
TGM3p.D396N
Missense
SNP
0.475
2--
TGS1-
-
-
-
4Gain-
THAP2-
-
-
-
3Gain-
THBS4p.R289W
Missense
SNP
0.536
2--
THEM6-
-
-
-
3Gain-
TIGAR-
-
-
-
3Gain-
TIGD5-
-
-
-
4Gain-
TIMELESS-
-
-
-
3Gain-
TKFCp.D403N
Missense
SNP
0.461
2--
TM7SF3-
-
-
-
3Gain-
TMBIM4-
-
-
-
3Gain-
TMBIM6-
-
-
-
3Gain-
TMCC3-
-
-
-
3Gain-
TMED2-
-
-
-
3Gain-
TMEM106C-
-
-
-
3Gain-
TMEM116-
-
-
-
3Gain-
TMEM117-
-
-
-
3Gain-
TMEM119-
-
-
-
3Gain-
TMEM120B-
-
-
-
3Gain-
TMEM132B-
-
-
-
3Gain-
TMEM132C-
-
-
-
3Gain-
TMEM132D-
-
-
-
3Gain-
TMEM19-
-
-
-
3Gain-
TMEM233-
-
-
-
3Gain-
TMEM249-
-
-
-
4Gain-
TMEM254-
-
-
-
1Loss-
TMEM263-
-
-
-
3Gain-
TMEM52B-
-
-
-
3Gain-
TMEM64-
-
-
-
4Gain-
TMEM65-
-
-
-
3Gain-
TMEM67-
-
-
-
4Gain-
TMEM68-
-
-
-
4Gain-
TMEM70-
-
-
-
4Gain-
TMEM71-
-
-
-
3Gain-
TMEM74-
-
-
-
4Gain-
TMPO-
-
-
-
3Gain-
TMPRSS12-
-
-
-
3Gain-
TMTC1p.A160V
Missense
SNP
0.254
3Gain-
TMTC2-
-
-
-
3Gain-
TMTC3-
-
-
-
3Gain-
TNFRSF11B-
-
-
-
4Gain-
TNFRSF1A-
-
-
-
3Gain-
TNS2-
-
-
-
3Gain-
TNXB-
-
-
-
1Loss-
TONSL-
-
-
-
4Gain-
TOP1MT-
-
-
-
4Gain-
TOX-
-
-
-
4Gain-
TP53p.R273C
Missense
SNP
0.482
2--
TP53INP1-
-
-
-
4Gain-
TPCN1-
-
-
-
3Gain-
TPD52-
-
-
-
4Gain-
TPH2-
-
-
-
3Gain-
TPI1-
-
-
-
3Gain-
TRAFD1-
-
-
-
3Gain-
TRAM1-
-
-
-
4Gain-
TRAPPC9-
-
-
-
3Gain-
TRHDE-
-
-
-
3Gain-
TRHR-
-
-
-
4Gain-
TRIAP1-
-
-
-
3Gain-
TRIB1-
-
-
-
3Gain-
TRIM11p.P396A
Missense
SNP
0.525
2--
TRIM55-
-
-
-
4Gain-
TRIP12-
-
-
-
1Loss-
TRIQK-
-
-
-
4Gain-
TRMT12-
-
-
-
3Gain-
TROAP-
-
-
-
3Gain-
TRPA1-
-
-
-
4Gain-
TRPS1-
-
-
-
4Gain-
TRPV4-
-
-
-
3Gain-
TSFM-
-
-
-
3Gain-
TSNARE1-
-
-
-
3Gain-
TSPAN11-
-
-
-
3Gain-
TSPAN14-
-
-
-
1Loss-
TSPAN19-
-
-
-
3Gain-
TSPAN31-
-
-
-
3Gain-
TSPAN8-
-
-
-
3Gain-
TSPAN9-
-
-
-
3Gain-
TSPOAP1p.R1705L
Missense
SNP
0.595
2--
TSPYL5-
-
-
-
4Gain-
TSTA3-
-
-
-
4Gain-
TTPA-
-
-
-
4Gain-
TUBA1A-
-
-
-
3Gain-
TUBA1B-
-
-
-
3Gain-
TUBA1C-
-
-
-
3Gain-
TULP3-
-
-
-
3Gain-
TWF1-
-
-
-
3Gain-
TXNDC5-
-
-
-
1Loss-
TXNRD1-
-
-
-
3Gain-
UBC-
-
-
-
3Gain-
UBE2E1p.S37N
Missense
SNP
0.470
2--
UBE2N-
-
-
-
3Gain-
UBE2V2-
-
-
-
4Gain-
UBE2W-
-
-
-
4Gain-
UBE3B-
-
-
-
3Gain-
UBR5-
-
-
-
4Gain-
UBXN2B-
-
-
-
4Gain-
UHRF1BP1L-
-
-
-
3Gain-
ULK1-
-
-
-
3Gain-
UMODp.T427M
Missense
SNP
0.569
2--
UNC119B-
-
-
-
3Gain-
UNG-
-
-
-
3Gain-
UQCRB-
-
-
-
4Gain-
USP14p.R293*
Nonsense
SNP
0.224
2--
USP15-
-
-
-
3Gain-
USP17L1-
-
-
-
1Loss-
USP17L3-
-
-
-
1Loss-
USP17L4-
-
-
-
1Loss-
USP17L8-
-
-
-
1Loss-
USP30-
-
-
-
3Gain-
USP44-
-
-
-
3Gain-
USP5-
-
-
-
3Gain-
UTP20-
-
-
-
3Gain-
UTP23-
-
-
-
4Gain-
VAMP1-
-
-
-
3Gain-
VCANp.R3188H
Missense
SNP
0.632
2--
VCPIP1-
-
-
-
4Gain-
VDR-
-
-
-
3Gain-
VEZT-
-
-
-
3Gain-
VIPp.G159R
Missense
SNP
0.473
2--
VIRMA-
-
-
-
4Gain-
VITp.D565N
Missense
SNP
0.293
2--
VPS13B-
-
-
-
4Gain-
VPS28-
-
-
-
4Gain-
VPS29-
-
-
-
3Gain-
VPS33A-
-
-
-
3Gain-
VPS37B-
-
-
-
3Gain-
VPS37Cp.R180C
Missense
SNP
0.615
2--
VSIG10-
-
-
-
3Gain-
VWFp.P2776L
Missense
SNP
0.363
3Gain-
VXN-
-
-
-
4Gain-
WARS2p.V272M
Missense
SNP
0.538
2--
WASHC3-
-
-
-
3Gain-
WASHC4-
-
-
-
3Gain-
WASHC5-
-
-
-
3Gain-
WBP11-
-
-
-
3Gain-
WDR66-
-
-
-
3Gain-
WDR87p.P1321H
Missense
SNP
0.461
2--
WDR90p.A989T
Missense
SNP
0.447
2--
WDR97-
-
-
-
4Gain-
WDYHV1-
-
-
-
3Gain-
WIF1-
-
-
-
3Gain-
WISP1-
-
-
-
3Gain-
WNK1-
-
-
-
3Gain-
WNT1-
-
-
-
3Gain-
WNT10B-
-
-
-
3Gain-
WNT5B-
-
-
-
3Gain-
WNT7Ap.A58T
Missense
SNP
0.197
2--
WSB2-
-
-
-
3Gain-
WSCD2-
-
-
-
3Gain-
WWP1-
-
-
-
4Gain-
XKR4-
-
-
-
4Gain-
XKR9-
-
-
-
4Gain-
XPOT-
-
-
-
3Gain-
YAF2-
-
-
-
3Gain-
YARS2-
-
-
-
3Gain-
YBX3-
-
-
-
3Gain-
YEATS4-
-
-
-
3Gain-
YTHDF3-
-
-
-
4Gain-
YWHAZ-
-
-
-
4Gain-
ZBTB10-
-
-
-
4Gain-
ZBTB20p.V240M
p.R191C
Missense
Missense
SNP
SNP
0.466
0.562
2--
ZBTB39-
-
-
-
3Gain-
ZBTB45p.P176A
Missense
SNP
0.149
2--
ZC2HC1A-
-
-
-
4Gain-
ZC3H10-
-
-
-
3Gain-
ZC3H13p.R531*
Nonsense
SNP
0.493
2--
ZC3H3-
-
-
-
4Gain-
ZCCHC8-
-
-
-
3Gain-
ZCRB1-
-
-
-
3Gain-
ZDHHC17-
-
-
-
3Gain-
ZFAND1-
-
-
-
4Gain-
ZFAT-
-
-
-
3Gain-
ZFC3H1-
-
-
-
3Gain-
ZFHX4-
-
-
-
4Gain-
ZFP14p.A26V
Missense
SNP
0.436
2--
ZFP41-
-
-
-
4Gain-
ZFP64p.T576M
Missense
SNP
0.483
2--
ZFPM2-
-
-
-
4Gain-
ZHX1-
-
-
-
3Gain-
ZHX1-C8orf76-
-
-
-
3Gain-
ZHX2-
-
-
-
4Gain-
ZKSCAN3p.R46H
Missense
SNP
0.444
2--
ZNF10-
-
-
-
3Gain-
ZNF107-
-
-
-
1Loss-
ZNF117-
-
-
-
1Loss-
ZNF138-
-
-
-
1Loss-
ZNF140-
-
-
-
3Gain-
ZNF16-
-
-
-
4Gain-
ZNF208p.D22N
Missense
SNP
0.149
NDND-
ZNF250-
-
-
-
4Gain-
ZNF251p.K431N
Missense
SNP
0.731
4Gain-
ZNF26-
-
-
-
3Gain-
ZNF268-
-
-
-
3Gain-
ZNF273-
-
-
-
1Loss-
ZNF280Dp.R476C
Missense
SNP
0.423
2--
ZNF319p.A567T
Missense
SNP
0.546
2--
ZNF34-
-
-
-
4Gain-
ZNF384-
-
-
-
3Gain-
ZNF385A-
-
-
-
3Gain-
ZNF517-
-
-
-
4Gain-
ZNF519-
-
-
-
1Loss-
ZNF572-
-
-
-
3Gain-
ZNF605-
-
-
-
3Gain-
ZNF623-
-
-
-
4Gain-
ZNF641-
-
-
-
3Gain-
ZNF664-
-
-
-
3Gain-
ZNF668p.V152M
Missense
SNP
0.424
2--
ZNF679-
-
-
-
1Loss-
ZNF680-
-
-
-
1Loss-
ZNF696-
-
-
-
4Gain-
ZNF7-
-
-
-
4Gain-
ZNF704-
-
-
-
4Gain-
ZNF705A-
-
-
-
3Gain-
ZNF706-
-
-
-
4Gain-
ZNF707-
-
-
-
4Gain-
ZNF71p.G245R
Missense
SNP
0.127
2--
ZNF727-
-
-
-
1Loss-
ZNF735-
-
-
-
1Loss-
ZNF736-
-
-
-
1Loss-
ZNF740-
-
-
-
3Gain-
ZNF746p.R565Q
Missense
SNP
0.496
2--
ZNF76p.R247H
Missense
SNP
0.471
2--
ZNF775p.G315S
Missense
SNP
0.381
2--
ZNF84-
-
-
-
3Gain-
ZNF891-
-
-
-
3Gain-