PDMR-625472~104-R~H67WG0-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
ABCA13-
-
-
-
3GainND
ABCA8p.V667M
Missense
SNP
0.517
2-ND
ABCB1-
-
-
-
3GainND
ABCB10-
-
-
-
4GainND
ABCB4-
-
-
-
3GainND
ABCB5-
-
-
-
3GainND
ABCC4-
-
-
-
3GainND
ABHD11-
-
-
-
3GainND
ABHD13-
-
-
-
3GainND
ABHD16B-
-
-
-
1LossND
ABL2-
-
-
-
4GainND
AC000120.2-
-
-
-
3GainND
AC000120.3-
-
-
-
3GainND
AC001226.2-
-
-
-
3GainND
AC004080.3-
-
-
-
3GainND
AC004593.3-
-
-
-
3GainND
AC004691.2-
-
-
-
3GainND
AC004922.1-
-
-
-
3GainND
AC005020.2-
-
-
-
3GainND
AC005154.5-
-
-
-
3GainND
AC006978.2-
-
-
-
3GainND
AC010132.3-
-
-
-
3GainND
AC010615.4-
-
-
-
1LossND
AC019117.2-
-
-
-
3GainND
AC027644.4-
-
-
-
3GainND
AC068533.4-
-
-
-
3GainND
AC092017.3-
-
-
-
4GainND
AC092329.3-
-
-
-
1LossND
AC092647.5-
-
-
-
3GainND
AC093668.1-
-
-
-
1LossND
AC093668.2-
-
-
-
1LossND
AC093668.3-
-
-
-
1LossND
AC105052.1-
-
-
-
1LossND
AC105052.3-
-
-
-
1LossND
AC115220.1-
-
-
-
3GainND
AC118470.1-
-
-
-
4GainND
AC134980.3-
-
-
-
3GainND
AC135068.1-
-
-
-
3GainND
AC135068.3-
-
-
-
3GainND
AC187653.1-
-
-
-
3GainND
AC239799.1-
-
-
-
3GainND
AC243547.3-
-
-
-
5AmpND
ACAD8-
-
-
-
3GainND
ACBD3-
-
-
-
4GainND
ACBD6-
-
-
-
4GainND
ACCSp.V202M
Missense
SNP
0.531
2-ND
ACHEp.R250W
Missense
SNP
0.301
3GainND
ACKR1-
-
-
-
4GainND
ACOD1-
-
-
-
3GainND
ACP6-
-
-
-
3GainND
ACRV1-
-
-
-
3GainND
ACTA1-
-
-
-
4GainND
ACTB-
-
-
-
3GainND
ACTL6B-
-
-
-
3GainND
ACTL9p.G314S
Missense
SNP
0.446
2-ND
ACTN2-
-
-
-
4GainND
ADAM12p.G610*
Nonsense
SNP
0.466
2-ND
ADAM15-
-
-
-
4GainND
ADAM18p.F70V
Missense
SNP
0.633
2-ND
ADAM22-
-
-
-
3GainND
ADAMTS15-
-
-
-
3GainND
ADAMTS4-
-
-
-
4GainND
ADAMTS5p.R170C
Missense
SNP
0.424
2-ND
ADAMTS8-
-
-
-
3GainND
ADAMTSL4-
-
-
-
4GainND
ADAP1-
-
-
-
3GainND
ADARp.A198V
Missense
SNP
0.293
4GainND
ADCY1-
-
-
-
3GainND
ADCY10-
-
-
-
4GainND
ADCY2p.A87V
Missense
SNP
0.510
2-ND
ADCYAP1R1-
-
-
-
3GainND
ADGRB1p.R1006H
Missense
SNP
0.532
2-ND
ADIPOR1-
-
-
-
4GainND
ADORA1-
-
-
-
4GainND
ADPRHL1-
-
-
-
3GainND
ADRM1-
-
-
-
1LossND
ADSS-
-
-
-
4GainND
AEBP1-
-
-
-
3GainND
AGFG2-
-
-
-
3GainND
AGMO-
-
-
-
3GainND
AGR2-
-
-
-
3GainND
AGR3-
-
-
-
3GainND
AGT-
-
-
-
4GainND
AGXTp.S205L
Missense
SNP
0.528
2-ND
AHCTF1-
-
-
-
4GainND
AHR-
-
-
-
3GainND
AIDA-
-
-
-
4GainND
AIM2-
-
-
-
4GainND
AIMP2-
-
-
-
3GainND
AKAP11-
-
-
-
3GainND
AKAP9-
-
-
-
3GainND
AKT3-
-
-
-
4GainND
AL117348.2-
-
-
-
4GainND
AL121845.2-
-
-
-
1LossND
AL121845.3-
-
-
-
1LossND
AL139011.2-
-
-
-
4GainND
AL139142.2-
-
-
-
4GainND
AL162377.3-
-
-
-
3GainND
AL358472.6-
-
-
-
4GainND
AL358472.7-
-
-
-
4GainND
AL359736.1-
-
-
-
3GainND
AL445238.1-
-
-
-
5AmpND
AL445989.1-
-
-
-
5AmpND
AL512506.3-
-
-
-
3GainND
AL512785.2-
-
-
-
4GainND
AL590132.1-
-
-
-
4GainND
AL591806.3-
-
-
-
4GainND
AL592490.1-
-
-
-
3GainND
AL691442.1-
-
-
-
4GainND
AL713999.1-
-
-
-
4GainND
ALDH9A1-
-
-
-
4GainND
ALG11-
-
-
-
3GainND
ALG5-
-
-
-
3GainND
ALKBH4-
-
-
-
3GainND
ALOX5AP-
-
-
-
3GainND
AMER2-
-
-
-
3GainND
AMPH-
-
-
-
3GainND
AMZ1-
-
-
-
3GainND
ANGEL2-
-
-
-
4GainND
ANGPTL1-
-
-
-
4GainND
ANK3p.T814N
Missense
SNP
0.496
2-ND
ANKIB1-
-
-
-
3GainND
ANKMY2-
-
-
-
3GainND
ANKRD10-
-
-
-
3GainND
ANKRD28p.R175C
Missense
SNP
0.532
2-ND
ANKRD34A-
-
-
-
5AmpND
ANKRD35-
-
-
-
5AmpND
ANKRD39p.D61N
Missense
SNP
0.560
2-ND
ANKRD45-
-
-
-
4GainND
ANKRD52p.S817L
Missense
SNP
0.462
2-ND
ANKRD60-
-
-
-
1LossND
ANKRD61-
-
-
-
3GainND
ANLN-
-
-
-
3GainND
ANP32E-
-
-
-
4GainND
ANXA10p.X66_splice
Splice_Site
SNP
0.409
2-ND
ANXA13p.R341C
Missense
SNP
0.490
2-ND
ANXA9-
-
-
-
4GainND
AOAH-
-
-
-
3GainND
AP1S1-
-
-
-
3GainND
AP4M1-
-
-
-
3GainND
AP5Z1-
-
-
-
3GainND
APCDD1L-
-
-
-
1LossND
APCS-
-
-
-
4GainND
APH1A-
-
-
-
4GainND
APLP2-
-
-
-
3GainND
APOA2-
-
-
-
4GainND
APOBEC4-
-
-
-
4GainND
AQP1-
-
-
-
3GainND
AQP10-
-
-
-
4GainND
ARF1-
-
-
-
4GainND
ARFGAP1-
-
-
-
1LossND
ARFRP1-
-
-
-
1LossND
ARGLU1-
-
-
-
3GainND
ARHGAP30-
-
-
-
4GainND
ARHGAP32-
-
-
-
3GainND
ARHGEF11-
-
-
-
4GainND
ARHGEF15p.L709I
Missense
SNP
0.469
2-ND
ARHGEF2-
-
-
-
4GainND
ARHGEF5-
-
-
-
1LossND
ARHGEF7-
-
-
-
3GainND
ARID4B-
-
-
-
4GainND
ARIH1p.R429H
Missense
SNP
0.533
2-ND
ARL11-
-
-
-
3GainND
ARL4A-
-
-
-
3GainND
ARL8A-
-
-
-
4GainND
ARMC10-
-
-
-
3GainND
ARNT-
-
-
-
4GainND
ARPC1A-
-
-
-
3GainND
ARPC1B-
-
-
-
3GainND
ARPC5-
-
-
-
4GainND
ARV1-
-
-
-
4GainND
ASB4-
-
-
-
3GainND
ASH1L-
-
-
-
4GainND
ASL-
-
-
-
3GainND
ASNS-
-
-
-
3GainND
ASPM-
-
-
-
4GainND
ASTN1-
-
-
-
4GainND
ASXL1p.R1068Q
Missense
SNP
0.492
2-ND
ATF3-
-
-
-
4GainND
ATF6-
-
-
-
4GainND
ATG4Dp.R326H
Missense
SNP
0.451
2-ND
ATP11A-
-
-
-
3GainND
ATP12A-
-
-
-
3GainND
ATP1A2-
-
-
-
4GainND
ATP1A4-
-
-
-
4GainND
ATP1B1-
-
-
-
4GainND
ATP2B4-
-
-
-
4GainND
ATP4Ap.A76V
Missense
SNP
0.419
2-ND
ATP4B-
-
-
-
3GainND
ATP5F1E-
-
-
-
1LossND
ATP5MF-
-
-
-
3GainND
ATP5MF-PTCD1-
-
-
-
3GainND
ATP6V1G3-
-
-
-
4GainND
ATP7B-
-
-
-
3GainND
ATP8A2-
-
-
-
3GainND
ATP8B2-
-
-
-
4GainND
ATRNL1p.R814H
Missense
SNP
0.493
2-ND
ATXN7L1-
-
-
-
3GainND
AURKA-
-
-
-
1LossND
AUTS2-
-
-
-
3GainND
AVL9-
-
-
-
3GainND
AVPR1B-
-
-
-
4GainND
AXDND1-
-
-
-
4GainND
AZGP1-
-
-
-
3GainND
B3GALNT2-
-
-
-
4GainND
B3GALT2-
-
-
-
4GainND
B3GAT1-
-
-
-
3GainND
B3GLCT-
-
-
-
3GainND
B4GALT3-
-
-
-
4GainND
BAIAP2p.G301S
Missense
SNP
0.481
2-ND
BAIAP2L1-
-
-
-
3GainND
BARX2-
-
-
-
3GainND
BATF3-
-
-
-
4GainND
BAZ1B-
-
-
-
3GainND
BBS9-
-
-
-
3GainND
BCAN-
-
-
-
4GainND
BCAP29-
-
-
-
3GainND
BCL7B-
-
-
-
3GainND
BCL9-
-
-
-
3GainND
BCORp.R1514*
Nonsense
SNP
0.516
NDNDND
BCORL1p.Q798*
Nonsense
SNP
0.532
NDNDND
BET1-
-
-
-
3GainND
BGLAP-
-
-
-
4GainND
BHLHA15-
-
-
-
3GainND
BHLHE23-
-
-
-
1LossND
BIRC7-
-
-
-
1LossND
BIVM-
-
-
-
3GainND
BIVM-ERCC5-
-
-
-
3GainND
BLID-
-
-
-
3GainND
BLOC1S5p.R74*
Nonsense
SNP
0.445
2-ND
BLVRA-
-
-
-
3GainND
BLZF1-
-
-
-
4GainND
BMP7-
-
-
-
1LossND
BMPER-
-
-
-
3GainND
BNIPL-
-
-
-
4GainND
BOLA1-
-
-
-
3GainND
BORA-
-
-
-
3GainND
BPNT1-
-
-
-
4GainND
BRAFp.V600E
Missense
SNP
1.000
2-ND
BRAT1-
-
-
-
3GainND
BRCA2-
-
-
-
3GainND
BRI3-
-
-
-
3GainND
BRINP2-
-
-
-
4GainND
BRINP3-
-
-
-
6AmpND
BROX-
-
-
-
4GainND
BSX-
-
-
-
3GainND
BTG2-
-
-
-
4GainND
BUD23-
-
-
-
3GainND
BUD31-
-
-
-
3GainND
BZW2-
-
-
-
3GainND
C11orf45-
-
-
-
3GainND
C1GALT1-
-
-
-
3GainND
C1orf100-
-
-
-
4GainND
C1orf105-
-
-
-
4GainND
C1orf112-
-
-
-
4GainND
C1orf115-
-
-
-
4GainND
C1orf116-
-
-
-
4GainND
C1orf131-
-
-
-
4GainND
C1orf189-
-
-
-
4GainND
C1orf198-
-
-
-
4GainND
C1orf21-
-
-
-
4GainND
C1orf226-
-
-
-
4GainND
C1orf35-
-
-
-
4GainND
C1orf43-
-
-
-
4GainND
C1orf53-
-
-
-
4GainND
C1orf54-
-
-
-
4GainND
C1orf56-
-
-
-
4GainND
C1orf61-
-
-
-
4GainND
C1orf68-
-
-
-
4GainND
C1orf74-
-
-
-
4GainND
C1QTNF9-
-
-
-
3GainND
C1QTNF9B-
-
-
-
3GainND
C20orf204-
-
-
-
1LossND
C20orf85-
-
-
-
1LossND
C2CD4D-
-
-
-
4GainND
C4A-
-
-
-
1LossND
C4B-
-
-
-
1LossND
C4BPA-
-
-
-
4GainND
C4BPB-
-
-
-
4GainND
C7orf25-
-
-
-
3GainND
C7orf26-
-
-
-
3GainND
C7orf31-
-
-
-
3GainND
C7orf43-
-
-
-
3GainND
C7orf50-
-
-
-
3GainND
C7orf57-
-
-
-
3GainND
C7orf61-
-
-
-
3GainND
CA14-
-
-
-
4GainND
CAB39L-
-
-
-
3GainND
CABLES2-
-
-
-
1LossND
CACNA1Cp.Y1234C
Missense
SNP
0.453
2-ND
CACNA1E-
-
-
-
4GainND
CACNA1S-
-
-
-
4GainND
CACNA2D1-
-
-
-
3GainND
CACNG2p.P264S
Missense
SNP
0.440
2-ND
CACNG5p.G229C
Missense
SNP
0.426
2-ND
CACYBP-
-
-
-
4GainND
CADM3-
-
-
-
4GainND
CALCR-
-
-
-
3GainND
CALML3p.M73V
Missense
SNP
0.491
2-ND
CALN1-
-
-
-
3GainND
CAMK1G-
-
-
-
4GainND
CAMK2B-
-
-
-
3GainND
CAMSAP2-
-
-
-
4GainND
CAPN2-
-
-
-
4GainND
CAPN8-
-
-
-
4GainND
CAPN9-
-
-
-
4GainND
CARD11-
-
-
-
3GainND
CARS2-
-
-
-
3GainND
CASD1-
-
-
-
3GainND
CASQ1-
-
-
-
4GainND
CASS4-
-
-
-
1LossND
CASTOR2-
-
-
-
3GainND
CASTOR3-
-
-
-
3GainND
CATSPERE-
-
-
-
4GainND
CBLL1-
-
-
-
3GainND
CBLN4-
-
-
-
1LossND
CBX3-
-
-
-
3GainND
CCDC122-
-
-
-
3GainND
CCDC126-
-
-
-
3GainND
CCDC146-
-
-
-
3GainND
CCDC15-
-
-
-
3GainND
CCDC168-
-
-
-
3GainND
CCDC169-
-
-
-
3GainND
CCDC169-SOHLH2-
-
-
-
3GainND
CCDC181-
-
-
-
4GainND
CCDC185-
-
-
-
4GainND
CCDC190-
-
-
-
4GainND
CCDC70-
-
-
-
3GainND
CCDC71L-
-
-
-
3GainND
CCDC88Bp.G1153D
Missense
SNP
0.470
2-ND
CCL24-
-
-
-
3GainND
CCL26-
-
-
-
3GainND
CCM2-
-
-
-
3GainND
CCNA1-
-
-
-
3GainND
CCND3p.P284L
Missense
SNP
1.000
2-ND
CCSAP-
-
-
-
4GainND
CCT3-
-
-
-
4GainND
CCT6A-
-
-
-
3GainND
CCT8L2p.V392I
Missense
SNP
0.493
2-ND
CCZ1-
-
-
-
3GainND
CCZ1B-
-
-
-
3GainND
CD160-
-
-
-
5AmpND
CD1A-
-
-
-
4GainND
CD1B-
-
-
-
4GainND
CD1C-
-
-
-
4GainND
CD1D-
-
-
-
4GainND
CD1E-
-
-
-
4GainND
CD244-
-
-
-
4GainND
CD247-
-
-
-
4GainND
CD34-
-
-
-
4GainND
CD36-
-
-
-
3GainND
CD46-
-
-
-
4GainND
CD48-
-
-
-
4GainND
CD55-
-
-
-
4GainND
CD5L-
-
-
-
4GainND
CD84-
-
-
-
4GainND
CDADC1-
-
-
-
3GainND
CDC14C-
-
-
-
3GainND
CDC16-
-
-
-
3GainND
CDC42BPA-
-
-
-
4GainND
CDC42BPBp.E1315K
Missense
SNP
0.481
2-ND
CDC42SE1-
-
-
-
4GainND
CDC73-
-
-
-
4GainND
CDCA7L-
-
-
-
3GainND
CDH26-
-
-
-
1LossND
CDH4-
-
-
-
1LossND
CDHR3-
-
-
-
3GainND
CDK13-
-
-
-
3GainND
CDK14-
-
-
-
3GainND
CDK18-
-
-
-
4GainND
CDK6-
-
-
-
3GainND
CDK8-
-
-
-
3GainND
CDKN2Ap.D84N
Missense
SNP
0.548
2-ND
CDON-
-
-
-
3GainND
CDR2Lp.R215W
Missense
SNP
0.550
2-ND
CDX2-
-
-
-
3GainND
CELF3-
-
-
-
4GainND
CELSR1p.G1927S
Missense
SNP
0.444
2-ND
CENPF-
-
-
-
4GainND
CENPJ-
-
-
-
3GainND
CENPL-
-
-
-
4GainND
CENPTp.L226M
Missense
SNP
0.528
2-ND
CEP170-
-
-
-
4GainND
CEP350-
-
-
-
4GainND
CERS2-
-
-
-
4GainND
CFAP126-
-
-
-
4GainND
CFAP45-
-
-
-
4GainND
CFAP69-
-
-
-
3GainND
CFH-
-
-
-
5AmpND
CFHR1-
-
-
-
1LossND
CFHR2-
-
-
-
4GainND
CFHR3-
-
-
-
1LossND
CFHR4-
-
-
-
4GainND
CFHR5-
-
-
-
4GainND
CGAp.T135M
Missense
SNP
0.469
2-ND
CGN-
-
-
-
4GainND
CHAMP1-
-
-
-
3GainND
CHCHD2-
-
-
-
3GainND
CHD1L-
-
-
-
3GainND
CHEK1-
-
-
-
3GainND
CHI3L1-
-
-
-
4GainND
CHIT1-
-
-
-
4GainND
CHML-
-
-
-
4GainND
CHN2-
-
-
-
3GainND
CHRM3-
-
-
-
4GainND
CHRNA4-
-
-
-
1LossND
CHRNB2-
-
-
-
4GainND
CHST1p.R337W
Missense
SNP
0.458
2-ND
CHST12-
-
-
-
3GainND
CHTOP-
-
-
-
4GainND
CIART-
-
-
-
4GainND
CICp.R296W
Missense
SNP
0.484
2-ND
CISHp.P259S
Missense
SNP
0.491
2-ND
CKAP2-
-
-
-
3GainND
CKS1B-
-
-
-
4GainND
CLDN10-
-
-
-
3GainND
CLDN12-
-
-
-
3GainND
CLDN15-
-
-
-
3GainND
CLDN3-
-
-
-
3GainND
CLDN4-
-
-
-
3GainND
CLIP2-
-
-
-
3GainND
CLK2-
-
-
-
4GainND
CLMP-
-
-
-
3GainND
CLN5-
-
-
-
3GainND
CLYBL-
-
-
-
3GainND
CNIH3-
-
-
-
4GainND
CNIH4-
-
-
-
4GainND
CNMD-
-
-
-
3GainND
CNPY4-
-
-
-
3GainND
CNST-
-
-
-
4GainND
CNTN2-
-
-
-
4GainND
CNTNAP4p.X445_splice
Splice_Site
SNP
0.377
2-ND
COA1-
-
-
-
3GainND
COA6-
-
-
-
4GainND
COBL-
-
-
-
3GainND
COG2-
-
-
-
4GainND
COG3-
-
-
-
3GainND
COG5p.G310W
Missense
SNP
0.323
3GainND
COG6-
-
-
-
3GainND
COL1A2-
-
-
-
3GainND
COL20A1p.R860W
Missense
SNP
1.000
1LossND
COL26A1-
-
-
-
3GainND
COL28A1-
-
-
-
3GainND
COL4A1-
-
-
-
3GainND
COL4A2-
-
-
-
3GainND
COL5A1p.P1436L
Missense
SNP
0.491
2-ND
COL6A6p.E172*
Nonsense
SNP
0.431
2-ND
COL9A3-
-
-
-
1LossND
COLGALT2-
-
-
-
4GainND
COMMD6-
-
-
-
3GainND
COP1-
-
-
-
4GainND
COPA-
-
-
-
4GainND
COPG1p.R204H
Missense
SNP
0.587
2-ND
COPS6-
-
-
-
3GainND
COQ8A-
-
-
-
4GainND
COX19-
-
-
-
3GainND
COX20-
-
-
-
4GainND
CPB2-
-
-
-
3GainND
CPSF4-
-
-
-
3GainND
CPT1Cp.S705*
Nonsense
SNP
0.495
2-ND
CPVL-
-
-
-
3GainND
CR1-
-
-
-
4GainND
CR1L-
-
-
-
4GainND
CR2-
-
-
-
4GainND
CRABP2-
-
-
-
4GainND
CRB1-
-
-
-
4GainND
CRCP-
-
-
-
3GainND
CRCT1-
-
-
-
4GainND
CREB3L4-
-
-
-
4GainND
CREB5-
-
-
-
3GainND
CREG1-
-
-
-
4GainND
CRHR2-
-
-
-
3GainND
CRNN-
-
-
-
4GainND
CROT-
-
-
-
3GainND
CRP-
-
-
-
4GainND
CRTAM-
-
-
-
3GainND
CRTC1p.A298T
Missense
SNP
0.504
2-ND
CRTC2-
-
-
-
4GainND
CRYL1-
-
-
-
3GainND
CSNK1A1L-
-
-
-
3GainND
CSRP1-
-
-
-
4GainND
CSTF1-
-
-
-
1LossND
CTAGE8-
-
-
-
1LossND
CTCFL-
-
-
-
1LossND
CTNNB1p.R190C
Missense
SNP
0.506
2-ND
CTSE-
-
-
-
4GainND
CTSK-
-
-
-
4GainND
CTSS-
-
-
-
4GainND
CTSZ-
-
-
-
1LossND
CUL4A-
-
-
-
3GainND
CUX1-
-
-
-
3GainND
CYB5R1-
-
-
-
4GainND
CYCS-
-
-
-
3GainND
CYP21A2-
-
-
-
1LossND
CYP2W1-
-
-
-
3GainND
CYP3A4-
-
-
-
3GainND
CYP3A43-
-
-
-
3GainND
CYP3A5-
-
-
-
3GainND
CYP3A7-
-
-
-
3GainND
CYP3A7-CYP3A51P-
-
-
-
3GainND
CYP51A1-
-
-
-
3GainND
CYSLTR2-
-
-
-
3GainND
CYTH3-
-
-
-
3GainND
DACH1-
-
-
-
3GainND
DAGLB-
-
-
-
3GainND
DAOA-
-
-
-
3GainND
DAP3-
-
-
-
4GainND
DARS2-
-
-
-
4GainND
DBF4-
-
-
-
3GainND
DBNL-
-
-
-
3GainND
DCAF6-
-
-
-
4GainND
DCAF8-
-
-
-
4GainND
DCLK1-
-
-
-
3GainND
DCPS-
-
-
-
3GainND
DCST1-
-
-
-
4GainND
DCST2-
-
-
-
4GainND
DCT-
-
-
-
3GainND
DCUN1D2-
-
-
-
3GainND
DDC-
-
-
-
3GainND
DDR2-
-
-
-
4GainND
DDX25-
-
-
-
3GainND
DDX56-
-
-
-
3GainND
DDX59-
-
-
-
4GainND
DEDD-
-
-
-
4GainND
DEFA4-
-
-
-
1LossND
DEFA5-
-
-
-
1LossND
DEFA6-
-
-
-
1LossND
DEFB1-
-
-
-
1LossND
DEFB103A-
-
-
-
1LossND
DEFB103B-
-
-
-
1LossND
DEFB104A-
-
-
-
1LossND
DEFB104B-
-
-
-
1LossND
DEFB105A-
-
-
-
1LossND
DEFB105B-
-
-
-
1LossND
DEFB106A-
-
-
-
1LossND
DEFB106B-
-
-
-
1LossND
DEFB107A-
-
-
-
1LossND
DEFB107B-
-
-
-
1LossND
DEFB4A-
-
-
-
1LossND
DEFB4B-
-
-
-
1LossND
DEGS1-
-
-
-
4GainND
DENND1B-
-
-
-
4GainND
DENND4B-
-
-
-
4GainND
DESI2-
-
-
-
4GainND
DGKB-
-
-
-
3GainND
DGKH-
-
-
-
3GainND
DHRS12-
-
-
-
3GainND
DHX9-
-
-
-
4GainND
DIAPH3-
-
-
-
3GainND
DIDO1-
-
-
-
1LossND
DIO3p.A135V
Missense
SNP
0.469
2-ND
DIRAS2p.R73W
Missense
SNP
0.534
2-ND
DIS3-
-
-
-
3GainND
DISC1-
-
-
-
4GainND
DISP1-
-
-
-
4GainND
DKK2p.H209N
Missense
SNP
0.392
2-ND
DLD-
-
-
-
3GainND
DLEU7-
-
-
-
3GainND
DLX5-
-
-
-
3GainND
DLX6-
-
-
-
3GainND
DMTF1-
-
-
-
3GainND
DNAAF5-
-
-
-
3GainND
DNAH11-
-
-
-
3GainND
DNAH14-
-
-
-
4GainND
DNAH17p.L751V
Missense
SNP
0.495
2-ND
DNAJB9-
-
-
-
3GainND
DNAJC13p.P1869S
Missense
SNP
0.471
2-ND
DNAJC15-
-
-
-
3GainND
DNAJC2-
-
-
-
3GainND
DNAJC3-
-
-
-
3GainND
DNAJC30-
-
-
-
3GainND
DNAJC5-
-
-
-
1LossND
DNM3-
-
-
-
4GainND
DNMT3Ap.R143Q
Missense
SNP
0.516
2-ND
DOCK2p.R488C
Missense
SNP
0.487
2-ND
DOCK9-
-
-
-
3GainND
DPM3-
-
-
-
4GainND
DPP10p.G27*
Nonsense
SNP
0.457
2-ND
DPT-
-
-
-
4GainND
DPY19L1-
-
-
-
3GainND
DSTYK-
-
-
-
4GainND
DTL-
-
-
-
4GainND
DTWD2p.G128D
Missense
SNP
0.513
2-ND
DTX2p.D118N
Missense
SNP
0.389
3GainND
DUS4L-
-
-
-
3GainND
DUSP10-
-
-
-
4GainND
DUSP12-
-
-
-
4GainND
DUSP23-
-
-
-
4GainND
DUSP27-
-
-
-
4GainND
DYNC1I1-
-
-
-
3GainND
DYRK3-
-
-
-
4GainND
DZIP1-
-
-
-
3GainND
EBPL-
-
-
-
3GainND
ECM1-
-
-
-
4GainND
EDARADD-
-
-
-
4GainND
EDEM3-
-
-
-
4GainND
EDN3-
-
-
-
1LossND
EDNRB-
-
-
-
3GainND
EEF1A2-
-
-
-
1LossND
EEF1AKMT1-
-
-
-
3GainND
EEPD1-
-
-
-
3GainND
EFCAB10-
-
-
-
3GainND
EFCAB2-
-
-
-
4GainND
EFCC1p.A147T
Missense
SNP
0.477
2-ND
EFNA1-
-
-
-
4GainND
EFNA3-
-
-
-
4GainND
EFNA4-
-
-
-
4GainND
EFNB1p.R71W
Missense
SNP
0.520
NDNDND
EFNB2-
-
-
-
3GainND
EGFR-
-
-
-
3GainND
EGLN1-
-
-
-
4GainND
EI24-
-
-
-
3GainND
EIF2AK1-
-
-
-
3GainND
EIF2D-
-
-
-
4GainND
EIF3B-
-
-
-
3GainND
EIF4H-
-
-
-
3GainND
ELF1-
-
-
-
3GainND
ELF3-
-
-
-
4GainND
ELFN1-
-
-
-
3GainND
ELK4-
-
-
-
4GainND
ELMO1-
-
-
-
3GainND
ELN-
-
-
-
3GainND
ENAH-
-
-
-
4GainND
ENOX1-
-
-
-
3GainND
ENSA-
-
-
-
4GainND
EPDR1-
-
-
-
3GainND
EPHB4-
-
-
-
3GainND
EPHX1-
-
-
-
4GainND
EPO-
-
-
-
3GainND
EPRS-
-
-
-
4GainND
EPSTI1-
-
-
-
3GainND
ERCC5-
-
-
-
3GainND
ERGp.R374H
Missense
SNP
0.485
2-ND
ERICH6B-
-
-
-
3GainND
ERO1B-
-
-
-
4GainND
ERV3-1-
-
-
-
3GainND
ESAM-
-
-
-
3GainND
ESD-
-
-
-
3GainND
ESPL1p.R2017W
Missense
SNP
0.523
2-ND
ESRRG-
-
-
-
4GainND
ESYT2-
-
-
-
3GainND
ETNK2-
-
-
-
4GainND
ETS1-
-
-
-
3GainND
ETV1p.H232Y
Missense
SNP
0.709
3GainND
ETV3-
-
-
-
4GainND
ETV3L-
-
-
-
4GainND
EVX1-
-
-
-
3GainND
EXO1-
-
-
-
4GainND
EXOC8-
-
-
-
4GainND
EXOSC8-
-
-
-
3GainND
F10-
-
-
-
3GainND
F11R-
-
-
-
4GainND
F13B-
-
-
-
4GainND
F5-
-
-
-
4GainND
F7-
-
-
-
3GainND
FAM118B-
-
-
-
3GainND
FAM124A-
-
-
-
3GainND
FAM126A-
-
-
-
3GainND
FAM129A-
-
-
-
4GainND
FAM133B-
-
-
-
3GainND
FAM155A-
-
-
-
3GainND
FAM163A-
-
-
-
4GainND
FAM177B-
-
-
-
4GainND
FAM185A-
-
-
-
1LossND
FAM189B-
-
-
-
4GainND
FAM200A-
-
-
-
3GainND
FAM209A-
-
-
-
1LossND
FAM209B-
-
-
-
1LossND
FAM20B-
-
-
-
4GainND
FAM20C-
-
-
-
3GainND
FAM210B-
-
-
-
1LossND
FAM216B-
-
-
-
3GainND
FAM217B-
-
-
-
1LossND
FAM220A-
-
-
-
3GainND
FAM221A-
-
-
-
3GainND
FAM47Bp.P189L
Missense
SNP
0.527
NDNDND
FAM71A-
-
-
-
4GainND
FAM78B-
-
-
-
4GainND
FAM89A-
-
-
-
4GainND
FARP1-
-
-
-
3GainND
FASLG-
-
-
-
4GainND
FBXL13-
-
-
-
3GainND
FBXL18-
-
-
-
3GainND
FBXL3-
-
-
-
3GainND
FBXO24-
-
-
-
3GainND
FBXO28-
-
-
-
4GainND
FCAMR-
-
-
-
4GainND
FCER1A-
-
-
-
4GainND
FCER1G-
-
-
-
4GainND
FCGR1A-
-
-
-
3GainND
FCGR2A-
-
-
-
4GainND
FCGR2B-
-
-
-
4GainND
FCGR2C-
-
-
-
4GainND
FCGR3A-
-
-
-
4GainND
FCGR3B-
-
-
-
4GainND
FCMR-
-
-
-
4GainND
FCRL1-
-
-
-
4GainND
FCRL2-
-
-
-
4GainND
FCRL3-
-
-
-
4GainND
FCRL4-
-
-
-
4GainND
FCRL5-
-
-
-
4GainND
FCRL6-
-
-
-
4GainND
FCRLA-
-
-
-
4GainND
FCRLB-
-
-
-
4GainND
FDPS-
-
-
-
4GainND
FERD3L-
-
-
-
3GainND
FEZ1-
-
-
-
3GainND
FEZF1p.P458Q
Missense
SNP
1.000
2-ND
FGF12p.V111M
Missense
SNP
0.500
2-ND
FGF14-
-
-
-
3GainND
FGF9-
-
-
-
3GainND
FGL2-
-
-
-
3GainND
FH-
-
-
-
4GainND
FIGNL1-
-
-
-
3GainND
FIS1-
-
-
-
3GainND
FKBP14-
-
-
-
3GainND
FKBP6-
-
-
-
3GainND
FKBP9-
-
-
-
3GainND
FLAD1-
-
-
-
4GainND
FLG-
-
-
-
4GainND
FLG2-
-
-
-
4GainND
FLI1-
-
-
-
3GainND
FLRT2p.R571H
Missense
SNP
0.497
2-ND
FLT1-
-
-
-
3GainND
FLT3-
-
-
-
3GainND
FLVCR1-
-
-
-
4GainND
FMN2-
-
-
-
4GainND
FMO1-
-
-
-
4GainND
FMO2-
-
-
-
4GainND
FMO3-
-
-
-
4GainND
FMO4-
-
-
-
4GainND
FMO5-
-
-
-
3GainND
FMOD-
-
-
-
4GainND
FNDC11-
-
-
-
1LossND
FNDC3A-
-
-
-
3GainND
FOXK1-
-
-
-
3GainND
FOXO1-
-
-
-
3GainND
FOXP1p.Q194H
Missense
SNP
0.524
2-ND
FOXRED1-
-
-
-
3GainND
FREM2-
-
-
-
3GainND
FRY-
-
-
-
3GainND
FSCN1-
-
-
-
3GainND
FZD1-
-
-
-
3GainND
FZD9-
-
-
-
3GainND
G0S2-
-
-
-
4GainND
GABPB2-
-
-
-
4GainND
GAKp.A363V
Missense
SNP
0.540
2-ND
GAL3ST4-
-
-
-
3GainND
GALNT17-
-
-
-
3GainND
GALNT2-
-
-
-
4GainND
GARS-
-
-
-
3GainND
GAS6-
-
-
-
3GainND
GATA4p.T367M
Missense
SNP
0.540
2-ND
GATA5-
-
-
-
1LossND
GATAD1-
-
-
-
3GainND
GATAD2B-
-
-
-
4GainND
GBA-
-
-
-
4GainND
GCK-
-
-
-
3GainND
GCNT7-
-
-
-
1LossND
GCSAML-
-
-
-
4GainND
GCSAML-AS1-
-
-
-
4GainND
GET4-
-
-
-
3GainND
GFOD2p.R315C
Missense
SNP
0.462
2-ND
GGACT-
-
-
-
3GainND
GGCT-
-
-
-
3GainND
GGPS1-
-
-
-
4GainND
GHRHR-
-
-
-
3GainND
GID8-
-
-
-
1LossND
GIGYF1-
-
-
-
3GainND
GINS3p.R186C
Missense
SNP
0.502
2-ND
GJA3-
-
-
-
3GainND
GJA5-
-
-
-
3GainND
GJA8-
-
-
-
3GainND
GJB2-
-
-
-
3GainND
GJB6-
-
-
-
3GainND
GJC2-
-
-
-
4GainND
GJC3-
-
-
-
3GainND
GLB1L2-
-
-
-
3GainND
GLB1L3p.R605H
Missense
SNP
0.280
3GainND
GLCCI1-
-
-
-
3GainND
GLI3-
-
-
-
3GainND
GLMP-
-
-
-
4GainND
GLRX2-
-
-
-
4GainND
GLT8D1-
-
-
-
3GainND
GLUL-
-
-
-
4GainND
GMEB2-
-
-
-
1LossND
GMIPp.R466Q
Missense
SNP
0.473
2-ND
GNA12-
-
-
-
3GainND
GNAI1-
-
-
-
3GainND
GNAS-
-
-
-
1LossND
GNAT3-
-
-
-
3GainND
GNB2-
-
-
-
3GainND
GNG11-
-
-
-
3GainND
GNG4-
-
-
-
4GainND
GNGT1-
-
-
-
3GainND
GNL3-
-
-
-
3GainND
GNPAT-
-
-
-
4GainND
GOLPH3L-
-
-
-
4GainND
GOLT1A-
-
-
-
4GainND
GON4L-
-
-
-
4GainND
GORAB-
-
-
-
4GainND
GPA33-
-
-
-
4GainND
GPALPP1-
-
-
-
3GainND
GPATCH2-
-
-
-
4GainND
GPATCH4-
-
-
-
4GainND
GPC1p.A138V
Missense
SNP
0.469
2-ND
GPC2-
-
-
-
3GainND
GPC5p.T184A
Missense
SNP
0.353
4GainND
GPC6-
-
-
-
4GainND
GPER1-
-
-
-
3GainND
GPLD1p.A549V
Missense
SNP
0.532
2-ND
GPNMB-
-
-
-
3GainND
GPR12-
-
-
-
3GainND
GPR135p.E403K
Missense
SNP
0.470
2-ND
GPR137B-
-
-
-
4GainND
GPR141-
-
-
-
3GainND
GPR146-
-
-
-
3GainND
GPR161-
-
-
-
4GainND
GPR18-
-
-
-
3GainND
GPR180-
-
-
-
3GainND
GPR183-
-
-
-
3GainND
GPR22-
-
-
-
3GainND
GPR25-
-
-
-
4GainND
GPR37L1-
-
-
-
4GainND
GPR4p.R49C
Missense
SNP
0.510
2-ND
GPR52-
-
-
-
4GainND
GPR89A-
-
-
-
5AmpND
GPR89B-
-
-
-
3GainND
GRAMD1B-
-
-
-
3GainND
GRB10-
-
-
-
3GainND
GREM2-
-
-
-
4GainND
GRID2IP-
-
-
-
3GainND
GRIFIN-
-
-
-
3GainND
GRIN2Dp.A350T
Missense
SNP
0.535
2-ND
GRK1-
-
-
-
3GainND
GRM3-
-
-
-
3GainND
GRTP1-
-
-
-
3GainND
GSAP-
-
-
-
3GainND
GSDME-
-
-
-
3GainND
GSX1-
-
-
-
3GainND
GTF2F2-
-
-
-
3GainND
GTF2I-
-
-
-
3GainND
GTF2IRD1-
-
-
-
3GainND
GTF2IRD2-
-
-
-
3GainND
GTF2IRD2B-
-
-
-
3GainND
GTF3A-
-
-
-
3GainND
GTF3C1p.A2005V
Missense
SNP
0.477
2-ND
GTPBP10-
-
-
-
3GainND
GUK1-
-
-
-
4GainND
GUSBp.A171T
Missense
SNP
0.611
3GainND
H2AFV-
-
-
-
3GainND
H3F3A-
-
-
-
4GainND
H3F3Cp.A75T
Missense
SNP
0.477
2-ND
HAPLN2-
-
-
-
4GainND
HAX1-
-
-
-
4GainND
HBP1-
-
-
-
3GainND
HCN3-
-
-
-
4GainND
HDAC1p.S78F
Missense
SNP
0.426
2-ND
HDAC9-
-
-
-
3GainND
HDGF-
-
-
-
4GainND
HEATR1-
-
-
-
4GainND
HECTD3p.R843H
Missense
SNP
0.470
2-ND
HECW1-
-
-
-
3GainND
HELZ2-
-
-
-
1LossND
HEPACAM-
-
-
-
3GainND
HEPACAM2-
-
-
-
3GainND
HEPN1-
-
-
-
3GainND
HERC1p.P98T
Missense
SNP
0.479
2-ND
HERPUD2-
-
-
-
3GainND
HGF-
-
-
-
3GainND
HHAT-
-
-
-
4GainND
HHIPL1p.E98K
Missense
SNP
0.484
2-ND
HHIPL2-
-
-
-
4GainND
HIBADH-
-
-
-
3GainND
HIP1-
-
-
-
3GainND
HIST1H4Fp.R93C
Missense
SNP
0.518
2-ND
HIST2H2AA3-
-
-
-
3GainND
HIST2H2AA4-
-
-
-
3GainND
HIST2H2AB-
-
-
-
3GainND
HIST2H2AC-
-
-
-
3GainND
HIST2H2BE-
-
-
-
3GainND
HIST2H2BF-
-
-
-
3GainND
HIST2H3A-
-
-
-
3GainND
HIST2H3C-
-
-
-
3GainND
HIST2H3D-
-
-
-
3GainND
HIST2H3PS2-
-
-
-
5AmpND
HIST2H4A-
-
-
-
3GainND
HIST2H4B-
-
-
-
3GainND
HIST3H2A-
-
-
-
4GainND
HIST3H2BB-
-
-
-
4GainND
HIST3H3-
-
-
-
4GainND
HJV-
-
-
-
5AmpND
HLX-
-
-
-
4GainND
HMCN1-
-
-
-
4GainND
HMGB1-
-
-
-
3GainND
HMSDp.R103C
Missense
SNP
0.481
2-ND
HNRNPA2B1-
-
-
-
3GainND
HNRNPU-
-
-
-
4GainND
HORMAD1-
-
-
-
4GainND
HOXA1-
-
-
-
3GainND
HOXA10-
-
-
-
3GainND
HOXA11-
-
-
-
3GainND
HOXA13-
-
-
-
3GainND
HOXA2-
-
-
-
3GainND
HOXA3-
-
-
-
3GainND
HOXA4-
-
-
-
3GainND
HOXA5-
-
-
-
3GainND
HOXA6-
-
-
-
3GainND
HOXA7-
-
-
-
3GainND
HOXA9-
-
-
-
3GainND
HOXD13p.E217K
Missense
SNP
0.489
2-ND
HRH3-
-
-
-
1LossND
HRNR-
-
-
-
4GainND
HS6ST3-
-
-
-
3GainND
HSD11B1-
-
-
-
4GainND
HSD17B7-
-
-
-
4GainND
HSPA6-
-
-
-
4GainND
HSPA8-
-
-
-
3GainND
HSPB1-
-
-
-
3GainND
HSPH1-
-
-
-
3GainND
HTR2A-
-
-
-
3GainND
HUS1-
-
-
-
3GainND
HYLS1-
-
-
-
3GainND
IARS2-
-
-
-
4GainND
IBA57p.A183T
Missense
SNP
0.301
4GainND
ICA1-
-
-
-
3GainND
IER5-
-
-
-
4GainND
IFI16-
-
-
-
4GainND
IFNGR1p.D160N
Missense
SNP
0.561
2-ND
IFT22-
-
-
-
3GainND
IFT88-
-
-
-
3GainND
IGF2BP3-
-
-
-
3GainND
IGF2Rp.R1973C
Missense
SNP
0.432
2-ND
IGFBP1-
-
-
-
3GainND
IGFBP3-
-
-
-
3GainND
IGFN1-
-
-
-
4GainND
IGSF8-
-
-
-
4GainND
IGSF9-
-
-
-
4GainND
IGSF9B-
-
-
-
3GainND
IKBKE-
-
-
-
4GainND
IKZF1-
-
-
-
3GainND
IL10-
-
-
-
4GainND
IL17D-
-
-
-
3GainND
IL19-
-
-
-
4GainND
IL20-
-
-
-
4GainND
IL24-
-
-
-
4GainND
IL6-
-
-
-
3GainND
IL6R-
-
-
-
4GainND
ILDR2-
-
-
-
4GainND
ILF2-
-
-
-
4GainND
IMMP2L-
-
-
-
3GainND
INAp.A128E
Missense
SNP
0.530
2-ND
INAVA-
-
-
-
4GainND
ING1-
-
-
-
3GainND
INHBA-
-
-
-
3GainND
INMT-
-
-
-
3GainND
INMT-MINDY4-
-
-
-
3GainND
INPP5Ap.R343Q
Missense
SNP
0.523
2-ND
INSRR-
-
-
-
4GainND
INTS1-
-
-
-
3GainND
INTS3-
-
-
-
4GainND
INTS6-
-
-
-
3GainND
INTS7-
-
-
-
4GainND
IPO5p.A585D
Missense
SNP
0.268
3GainND
IPO9-
-
-
-
4GainND
IQCEp.T169M
Missense
SNP
0.624
3GainND
IQGAP3-
-
-
-
4GainND
IRF2BP2-
-
-
-
4GainND
IRF6-
-
-
-
4GainND
IRF9p.G72E
Missense
SNP
0.554
2-ND
IRS2-
-
-
-
3GainND
ISG20L2-
-
-
-
4GainND
ISPD-
-
-
-
3GainND
ITGA10-
-
-
-
5AmpND
ITGA2p.V1150I
Missense
SNP
0.481
2-ND
ITGB8-
-
-
-
3GainND
ITGBL1-
-
-
-
3GainND
ITIH4p.R47Q
Missense
SNP
0.479
2-ND
ITLN1-
-
-
-
4GainND
ITLN2-
-
-
-
4GainND
ITM2B-
-
-
-
3GainND
ITPKBp.R698H
Missense
SNP
0.266
4GainND
ITPRID1-
-
-
-
3GainND
IVL-
-
-
-
4GainND
IVNS1ABP-
-
-
-
4GainND
JAM3-
-
-
-
3GainND
JAZF1-
-
-
-
3GainND
JHY-
-
-
-
3GainND
JMJD4-
-
-
-
4GainND
JTB-
-
-
-
4GainND
KATNAL1-
-
-
-
3GainND
KBTBD2-
-
-
-
3GainND
KBTBD6-
-
-
-
3GainND
KBTBD7-
-
-
-
3GainND
KCND2p.S330L
Missense
SNP
0.498
2-ND
KCNH1-
-
-
-
4GainND
KCNJ1-
-
-
-
3GainND
KCNJ10-
-
-
-
4GainND
KCNJ4p.R56C
Missense
SNP
0.498
2-ND
KCNJ5-
-
-
-
3GainND
KCNJ9-
-
-
-
4GainND
KCNK1-
-
-
-
4GainND
KCNK2-
-
-
-
4GainND
KCNN3-
-
-
-
4GainND
KCNQ2-
-
-
-
1LossND
KCNQ4p.R216C
Missense
SNP
0.541
2-ND
KCNRG-
-
-
-
3GainND
KCNT2-
-
-
-
5AmpND
KCTD12-
-
-
-
3GainND
KCTD3-
-
-
-
4GainND
KCTD4-
-
-
-
3GainND
KCTD7-
-
-
-
3GainND
KDELC1-
-
-
-
3GainND
KDELR2-
-
-
-
3GainND
KDM5B-
-
-
-
4GainND
KHDC4-
-
-
-
4GainND
KIAA0040-
-
-
-
4GainND
KIAA0430p.K428E
Missense
SNP
0.498
NDNDND
KIAA0895-
-
-
-
3GainND
KIAA1324L-
-
-
-
3GainND
KIAA1614-
-
-
-
4GainND
KIF14-
-
-
-
4GainND
KIF21B-
-
-
-
4GainND
KIF26B-
-
-
-
4GainND
KIF9p.R293W
Missense
SNP
0.538
2-ND
KIFAP3-
-
-
-
4GainND
KIRRELp.V561I
Missense
SNP
0.285
NDNDND
KIRREL1-
-
-
-
4GainND
KIRREL3-
-
-
-
3GainND
KISS1-
-
-
-
4GainND
KL-
-
-
-
3GainND
KLF12-
-
-
-
3GainND
KLF5-
-
-
-
3GainND
KLHDC8A-
-
-
-
4GainND
KLHDC9-
-
-
-
4GainND
KLHL1-
-
-
-
3GainND
KLHL12-
-
-
-
4GainND
KLHL20-
-
-
-
4GainND
KLHL7-
-
-
-
3GainND
KMO-
-
-
-
4GainND
KMT2Dp.R5340*
Nonsense
SNP
0.596
2-ND
KMT2E-
-
-
-
3GainND
KPNA3-
-
-
-
3GainND
KPNA7-
-
-
-
3GainND
KPRPp.R409H
Missense
SNP
0.207
4GainND
KRIT1-
-
-
-
3GainND
KRTCAP2-
-
-
-
4GainND
LACC1-
-
-
-
3GainND
LAD1-
-
-
-
4GainND
LAMA5-
-
-
-
1LossND
LAMB1-
-
-
-
3GainND
LAMB3-
-
-
-
4GainND
LAMB4-
-
-
-
3GainND
LAMC1-
-
-
-
4GainND
LAMC2-
-
-
-
4GainND
LAMP1-
-
-
-
3GainND
LAMTOR2-
-
-
-
4GainND
LAMTOR4-
-
-
-
3GainND
LANCL2-
-
-
-
3GainND
LAT2-
-
-
-
3GainND
LATS2-
-
-
-
3GainND
LAX1-
-
-
-
4GainND
LBR-
-
-
-
4GainND
LCE1A-
-
-
-
4GainND
LCE1B-
-
-
-
4GainND
LCE1C-
-
-
-
4GainND
LCE1E-
-
-
-
4GainND
LCE1F-
-
-
-
4GainND
LCE2A-
-
-
-
4GainND
LCE2B-
-
-
-
4GainND
LCE2C-
-
-
-
4GainND
LCE2D-
-
-
-
4GainND
LCE3A-
-
-
-
4GainND
LCE3B-
-
-
-
4GainND
LCE3C-
-
-
-
4GainND
LCE3D-
-
-
-
4GainND
LCE3E-
-
-
-
4GainND
LCE4A-
-
-
-
4GainND
LCE5A-
-
-
-
4GainND
LCE6A-
-
-
-
4GainND
LCN10p.R147C
Missense
SNP
0.540
2-ND
LCP1-
-
-
-
3GainND
LEFTY1-
-
-
-
4GainND
LEFTY2-
-
-
-
4GainND
LELP1-
-
-
-
4GainND
LEMD1-
-
-
-
4GainND
LENEP-
-
-
-
4GainND
LFNG-
-
-
-
3GainND
LGALS8-
-
-
-
4GainND
LGR6-
-
-
-
4GainND
LHFPL3-
-
-
-
3GainND
LHFPL6-
-
-
-
3GainND
LHX4-
-
-
-
4GainND
LHX5p.A201T
Missense
SNP
0.526
2-ND
LHX9-
-
-
-
4GainND
LIG4-
-
-
-
3GainND
LIME1-
-
-
-
1LossND
LIMK1-
-
-
-
3GainND
LIN9-
-
-
-
4GainND
LINC02203-
-
-
-
3GainND
LINGO2p.R47*
Nonsense
SNP
0.469
2-ND
LINGO4-
-
-
-
4GainND
LIX1L-
-
-
-
5AmpND
LKAAEAR1-
-
-
-
1LossND
LMNA-
-
-
-
4GainND
LMO7p.A22V
Missense
SNP
0.653
3GainND
LMOD1-
-
-
-
4GainND
LMTK2-
-
-
-
3GainND
LMX1A-
-
-
-
4GainND
LNX2-
-
-
-
3GainND
LOR-
-
-
-
4GainND
LOXL2p.R522C
Missense
SNP
0.490
2-ND
LPAR6-
-
-
-
3GainND
LPGAT1-
-
-
-
4GainND
LRCH1-
-
-
-
3GainND
LRCH4-
-
-
-
3GainND
LRRC17-
-
-
-
3GainND
LRRC52-
-
-
-
4GainND
LRRC63-
-
-
-
3GainND
LRRC71-
-
-
-
4GainND
LRRC72-
-
-
-
3GainND
LRRD1-
-
-
-
3GainND
LRRN2-
-
-
-
4GainND
LRWD1-
-
-
-
3GainND
LSM14B-
-
-
-
1LossND
LSM5-
-
-
-
3GainND
LY9-
-
-
-
4GainND
LYPD8-
-
-
-
3GainND
LYPLAL1-
-
-
-
4GainND
LYSMD1-
-
-
-
4GainND
LYST-
-
-
-
4GainND
MAB21L1-
-
-
-
3GainND
MACC1-
-
-
-
3GainND
MAD1L1-
-
-
-
3GainND
MADCAM1p.R344H
Missense
SNP
0.456
2-ND
MAEL-
-
-
-
4GainND
MAFK-
-
-
-
3GainND
MAGI2-
-
-
-
3GainND
MALSU1-
-
-
-
3GainND
MAP10-
-
-
-
4GainND
MAP1LC3C-
-
-
-
4GainND
MAP3K21-
-
-
-
4GainND
MAP4K5p.A301T
Missense
SNP
0.464
2-ND
MAPK7p.R524W
Missense
SNP
0.421
2-ND
MAPK8p.V260I
Missense
SNP
0.508
2-ND
MAPKAPK2-
-
-
-
4GainND
MARC1-
-
-
-
4GainND
MARC2-
-
-
-
4GainND
MARK1-
-
-
-
4GainND
MARVELD3p.A311T
Missense
SNP
0.543
2-ND
MBLAC1-
-
-
-
3GainND
MBNL2-
-
-
-
3GainND
MC3R-
-
-
-
1LossND
MCCC1p.E425K
Missense
SNP
0.546
2-ND
MCF2L-
-
-
-
3GainND
MCL1-
-
-
-
4GainND
MCM7-
-
-
-
3GainND
MDH2-
-
-
-
3GainND
MDM4-
-
-
-
4GainND
MED25p.Y46H
Missense
SNP
0.520
2-ND
MED4-
-
-
-
3GainND
MEDAG-
-
-
-
3GainND
MEF2D-
-
-
-
4GainND
MELKp.G327V
Missense
SNP
0.481
2-ND
MEOX2-
-
-
-
3GainND
MEPCE-
-
-
-
3GainND
METTL11B-
-
-
-
4GainND
METTL13-
-
-
-
4GainND
METTL18-
-
-
-
4GainND
METTL21C-
-
-
-
3GainND
METTL27-
-
-
-
3GainND
MEX3A-
-
-
-
4GainND
MFSD4A-
-
-
-
4GainND
MFSD6p.V309I
Missense
SNP
0.504
2-ND
MGAT5Bp.T503A
Missense
SNP
0.493
2-ND
MGST3-
-
-
-
4GainND
MIA3-
-
-
-
4GainND
MICALL2-
-
-
-
3GainND
MICU2-
-
-
-
3GainND
MINDY1-
-
-
-
4GainND
MINDY4-
-
-
-
3GainND
MIOS-
-
-
-
3GainND
MIPEP-
-
-
-
3GainND
MIXL1-
-
-
-
4GainND
MLLT11-
-
-
-
4GainND
MLNR-
-
-
-
3GainND
MLXIPL-
-
-
-
3GainND
MMD2-
-
-
-
3GainND
MNDA-
-
-
-
4GainND
MOGAT3-
-
-
-
3GainND
MOSPD3-
-
-
-
3GainND
MPC2-
-
-
-
4GainND
MPHOSPH8-
-
-
-
3GainND
MPLKIP-
-
-
-
3GainND
MPP6-
-
-
-
3GainND
MPZ-
-
-
-
4GainND
MPZL1-
-
-
-
4GainND
MR1-
-
-
-
4GainND
MRE11Ap.R351H
Missense
SNP
0.471
NDNDND
MRGBP-
-
-
-
1LossND
MRM2-
-
-
-
3GainND
MROH9-
-
-
-
4GainND
MRPL24-
-
-
-
4GainND
MRPL32-
-
-
-
3GainND
MRPL55-
-
-
-
4GainND
MRPL57-
-
-
-
3GainND
MRPL9-
-
-
-
4GainND
MRPS14-
-
-
-
4GainND
MRPS17-
-
-
-
3GainND
MRPS21-
-
-
-
4GainND
MRPS24-
-
-
-
3GainND
MRPS31-
-
-
-
3GainND
MSANTD2-
-
-
-
3GainND
MSTO1-
-
-
-
4GainND
MT1HL1-
-
-
-
4GainND
MTERF1-
-
-
-
3GainND
MTG2-
-
-
-
1LossND
MTHFRp.R377H
Missense
SNP
1.000
2-ND
MTIF3-
-
-
-
3GainND
MTMR11-
-
-
-
3GainND
MTMR6-
-
-
-
3GainND
MTR-
-
-
-
4GainND
MTRF1-
-
-
-
3GainND
MTURN-
-
-
-
3GainND
MTUS2-
-
-
-
3GainND
MTX1-
-
-
-
4GainND
MUC1-
-
-
-
4GainND
MUC12-
-
-
-
3GainND
MUC17-
-
-
-
3GainND
MUC3A-
-
-
-
3GainND
MYBPH-
-
-
-
4GainND
MYCBP2-
-
-
-
3GainND
MYH7Bp.P192L
Missense
SNP
0.456
2-ND
MYH8p.R1139H
Missense
SNP
0.466
2-ND
MYL10-
-
-
-
3GainND
MYL7-
-
-
-
3GainND
MYO16-
-
-
-
3GainND
MYO1G-
-
-
-
3GainND
MYOC-
-
-
-
4GainND
MYOCOS-
-
-
-
4GainND
MYOG-
-
-
-
4GainND
MYT1-
-
-
-
1LossND
MZT1-
-
-
-
3GainND
N4BP2L1-
-
-
-
3GainND
N4BP2L2-
-
-
-
3GainND
NAA16-
-
-
-
3GainND
NACADp.T371M
Missense
SNP
0.674
3GainND
NALCN-
-
-
-
3GainND
NAMPT-
-
-
-
3GainND
NAPEPLD-
-
-
-
3GainND
NAT16-
-
-
-
3GainND
NAV1-
-
-
-
4GainND
NAXD-
-
-
-
3GainND
NAXE-
-
-
-
4GainND
NBEA-
-
-
-
3GainND
NBPF10-
-
-
-
3GainND
NBPF11-
-
-
-
3GainND
NBPF12-
-
-
-
3GainND
NBPF14-
-
-
-
3GainND
NBPF15-
-
-
-
5AmpND
NBPF19-
-
-
-
3GainND
NBPF20-
-
-
-
5AmpND
NBPF9-
-
-
-
3GainND
NCAPD3-
-
-
-
3GainND
NCBP1p.R464C
Missense
SNP
0.514
2-ND
NCF1-
-
-
-
3GainND
NCF2-
-
-
-
4GainND
NCK2p.E211K
Missense
SNP
0.472
2-ND
NCKAP5p.R411*
Nonsense
SNP
0.514
2-ND
NCSTN-
-
-
-
4GainND
NDFIP2-
-
-
-
3GainND
NDUFA4-
-
-
-
3GainND
NDUFS2-
-
-
-
4GainND
NECTIN4-
-
-
-
4GainND
NEK2-
-
-
-
4GainND
NEK3-
-
-
-
3GainND
NEK4-
-
-
-
3GainND
NEK5-
-
-
-
3GainND
NEK7-
-
-
-
4GainND
NELFCD-
-
-
-
1LossND
NENF-
-
-
-
4GainND
NES-
-
-
-
4GainND
NEUROD6-
-
-
-
3GainND
NFASC-
-
-
-
4GainND
NFATC2p.P709H
Missense
SNP
0.462
2-ND
NFE2L3-
-
-
-
3GainND
NFE4-
-
-
-
3GainND
NFIXp.R422*
Nonsense
SNP
0.478
2-ND
NFRKB-
-
-
-
3GainND
NFXL1p.V899I
Missense
SNP
0.463
2-ND
NHLH1-
-
-
-
4GainND
NHLRC3-
-
-
-
3GainND
NID1-
-
-
-
4GainND
NID2p.L844S
Missense
SNP
0.433
2-ND
NIPSNAP2-
-
-
-
3GainND
NIT1-
-
-
-
4GainND
NKAIN4-
-
-
-
1LossND
NKX2-4p.T229M
Missense
SNP
0.457
2-ND
NLRP3-
-
-
-
4GainND
NME7-
-
-
-
4GainND
NME8-
-
-
-
3GainND
NMNAT2-
-
-
-
4GainND
NOD1-
-
-
-
3GainND
NOS1AP-
-
-
-
4GainND
NOTCH2NLA-
-
-
-
3GainND
NOTOp.R207S
Missense
SNP
0.133
2-ND
NPAP1p.M1015I
Missense
SNP
0.510
2-ND
NPBWR2-
-
-
-
1LossND
NPC1L1-
-
-
-
3GainND
NPEPL1-
-
-
-
1LossND
NPHS2-
-
-
-
4GainND
NPL-
-
-
-
4GainND
NPR1-
-
-
-
4GainND
NPSR1-
-
-
-
3GainND
NPTX2-
-
-
-
3GainND
NPVF-
-
-
-
3GainND
NPY-
-
-
-
3GainND
NR1I3-
-
-
-
4GainND
NR5A2-
-
-
-
4GainND
NRCAM-
-
-
-
3GainND
NRGN-
-
-
-
3GainND
NSL1-
-
-
-
4GainND
NSUN5-
-
-
-
3GainND
NT5C3A-
-
-
-
3GainND
NTM-
-
-
-
3GainND
NTPCR-
-
-
-
4GainND
NTRK1-
-
-
-
4GainND
NTSR1-
-
-
-
1LossND
NUAK2-
-
-
-
4GainND
NUBP2p.G186*
Nonsense
SNP
0.406
2-ND
NUCKS1-
-
-
-
4GainND
NUDCD3-
-
-
-
3GainND
NUDT1-
-
-
-
3GainND
NUDT15-
-
-
-
3GainND
NUDT17-
-
-
-
5AmpND
NUDT4B-
-
-
-
3GainND
NUF2-
-
-
-
4GainND
NUFIP1-
-
-
-
3GainND
NUP133-
-
-
-
4GainND
NUP210L-
-
-
-
4GainND
NUP58-
-
-
-
3GainND
NUPL2-
-
-
-
3GainND
NUPR2-
-
-
-
3GainND
NVL-
-
-
-
4GainND
NXPH1-
-
-
-
3GainND
NYAP1-
-
-
-
3GainND
OAZ3-
-
-
-
4GainND
OBSCN-
-
-
-
4GainND
OCLM-
-
-
-
4GainND
OCM-
-
-
-
3GainND
OCM2-
-
-
-
3GainND
OCRLp.Q87H
Missense
SNP
0.382
NDNDND
ODR4-
-
-
-
4GainND
OGDH-
-
-
-
3GainND
OGFR-
-
-
-
1LossND
OLFM4-
-
-
-
3GainND
OLFML2Bp.R176*
Nonsense
SNP
0.237
4GainND
OPCML-
-
-
-
3GainND
OPN3-
-
-
-
4GainND
OPRL1-
-
-
-
1LossND
OPTC-
-
-
-
4GainND
OR10D3-
-
-
-
3GainND
OR10G4-
-
-
-
3GainND
OR10G7-
-
-
-
3GainND
OR10G8-
-
-
-
3GainND
OR10G9-
-
-
-
3GainND
OR10J1-
-
-
-
4GainND
OR10J3-
-
-
-
4GainND
OR10J5-
-
-
-
4GainND
OR10K1-
-
-
-
4GainND
OR10K2-
-
-
-
4GainND
OR10R2-
-
-
-
4GainND
OR10S1-
-
-
-
3GainND
OR10T2-
-
-
-
4GainND
OR10X1-
-
-
-
4GainND
OR10Z1-
-
-
-
4GainND
OR11L1-
-
-
-
4GainND
OR13G1-
-
-
-
4GainND
OR14A16-
-
-
-
4GainND
OR14A2-
-
-
-
4GainND
OR14C36-
-
-
-
4GainND
OR14I1-
-
-
-
3GainND
OR14K1-
-
-
-
4GainND
OR1C1-
-
-
-
4GainND
OR2A1-
-
-
-
1LossND
OR2A14p.A222V
Missense
SNP
0.125
2-ND
OR2A7-
-
-
-
1LossND
OR2AE1-
-
-
-
3GainND
OR2AJ1-
-
-
-
4GainND
OR2AK2-
-
-
-
4GainND
OR2B11-
-
-
-
4GainND
OR2C3-
-
-
-
4GainND
OR2G2-
-
-
-
4GainND
OR2G3-
-
-
-
4GainND
OR2G6-
-
-
-
4GainND
OR2L13-
-
-
-
4GainND
OR2L2-
-
-
-
4GainND
OR2L3-
-
-
-
4GainND
OR2L5-
-
-
-
4GainND
OR2L8-
-
-
-
4GainND
OR2M2-
-
-
-
4GainND
OR2M3-
-
-
-
4GainND
OR2M4-
-
-
-
4GainND
OR2M5-
-
-
-
4GainND
OR2M7-
-
-
-
4GainND
OR2T1-
-
-
-
4GainND
OR2T12-
-
-
-
4GainND
OR2T2-
-
-
-
4GainND
OR2T27-
-
-
-
3GainND
OR2T29-
-
-
-
4GainND
OR2T3-
-
-
-
4GainND
OR2T33-
-
-
-
4GainND
OR2T34-
-
-
-
4GainND
OR2T35-
-
-
-
3GainND
OR2T4-
-
-
-
4GainND
OR2T5-
-
-
-
4GainND
OR2T6-
-
-
-
4GainND
OR2T8-
-
-
-
4GainND
OR2W3-
-
-
-
4GainND
OR4C12p.K87T
Missense
SNP
0.526
2-ND
OR4D5-
-
-
-
3GainND
OR4K1-
-
-
-
3GainND
OR4K2-
-
-
-
3GainND
OR4K5-
-
-
-
3GainND
OR4M1-
-
-
-
3GainND
OR4M2-
-
-
-
3GainND
OR4N2-
-
-
-
3GainND
OR4N4-
-
-
-
3GainND
OR4Q3-
-
-
-
3GainND
OR52B2p.L164V
Missense
SNP
0.483
2-ND
OR52D1p.A31V
Missense
SNP
0.572
2-ND
OR6F1-
-
-
-
4GainND
OR6K2-
-
-
-
4GainND
OR6K3-
-
-
-
4GainND
OR6K6-
-
-
-
4GainND
OR6M1-
-
-
-
3GainND
OR6N1-
-
-
-
4GainND
OR6N2-
-
-
-
4GainND
OR6P1-
-
-
-
4GainND
OR6T1-
-
-
-
3GainND
OR6X1-
-
-
-
3GainND
OR6Y1-
-
-
-
4GainND
OR8A1-
-
-
-
3GainND
OR8B12-
-
-
-
3GainND
OR8B2-
-
-
-
3GainND
OR8B3-
-
-
-
3GainND
OR8B4-
-
-
-
3GainND
OR8B8-
-
-
-
3GainND
OR8D1-
-
-
-
3GainND
OR8D2-
-
-
-
3GainND
OR8D4-
-
-
-
3GainND
OR8G1-
-
-
-
3GainND
OR8G5-
-
-
-
3GainND
ORAI2-
-
-
-
3GainND
ORC5-
-
-
-
3GainND
OSBPL2p.V242I
Missense
SNP
0.991
1LossND
OSBPL3-
-
-
-
3GainND
OTUD7B-
-
-
-
3GainND
OXGR1-
-
-
-
3GainND
PABPC3-
-
-
-
3GainND
PACSIN1p.R288C
Missense
SNP
0.440
2-ND
PAIP1p.Y423C
Missense
SNP
0.471
2-ND
PAN3-
-
-
-
3GainND
PANX3-
-
-
-
3GainND
PAPOLB-
-
-
-
3GainND
PAPPA2-
-
-
-
4GainND
PAQR4p.L57M
Missense
SNP
0.530
2-ND
PAQR6-
-
-
-
4GainND
PARK2p.D346N
Missense
SNP
0.419
NDNDND
PARP1-
-
-
-
4GainND
PARP2p.T184M
Missense
SNP
0.510
2-ND
PARP4-
-
-
-
3GainND
PATE1-
-
-
-
3GainND
PATE2-
-
-
-
3GainND
PATE3-
-
-
-
3GainND
PATE4-
-
-
-
3GainND
PBX1-
-
-
-
4GainND
PBXIP1-
-
-
-
4GainND
PCCAp.R230H
Missense
SNP
0.594
3GainND
PCDH17p.L1072V
Missense
SNP
0.323
5AmpND
PCDH20-
-
-
-
3GainND
PCDH8-
-
-
-
3GainND
PCDH9-
-
-
-
5AmpND
PCDHA8p.T461M
p.G673V
Missense
Missense
SNP
SNP
0.480
0.404
2-ND
PCDHB7p.V439M
Missense
SNP
0.566
2-ND
PCDHGA1p.R627C
Missense
SNP
0.446
2-ND
PCDHGA11p.R25W
Missense
SNP
0.553
2-ND
PCDHGB2p.A266T
p.A469T
Missense
Missense
SNP
SNP
0.493
0.496
2-ND
PCID2-
-
-
-
3GainND
PCK1-
-
-
-
1LossND
PCLOp.A4915V
Missense
SNP
0.661
3GainND
PCMTD2-
-
-
-
1LossND
PCNX2-
-
-
-
4GainND
PCOLCE-
-
-
-
3GainND
PCP4L1-
-
-
-
4GainND
PDAP1-
-
-
-
3GainND
PDC-
-
-
-
6AmpND
PDCD10p.R95*
Nonsense
SNP
0.421
2-ND
PDCD4p.G451D
Missense
SNP
0.365
2-ND
PDE1C-
-
-
-
3GainND
PDE4DIP-
-
-
-
3GainND
PDGFA-
-
-
-
3GainND
PDK4-
-
-
-
3GainND
PDS5B-
-
-
-
3GainND
PDX1-
-
-
-
3GainND
PDZK1-
-
-
-
5AmpND
PEA15-
-
-
-
4GainND
PEAR1-
-
-
-
4GainND
PEG10-
-
-
-
3GainND
PERM1p.P153H
Missense
SNP
1.000
2-ND
PEX1-
-
-
-
3GainND
PEX11B-
-
-
-
5AmpND
PEX19-
-
-
-
4GainND
PFDN2-
-
-
-
4GainND
PFKFB2-
-
-
-
4GainND
PGAM2-
-
-
-
3GainND
PGBD2-
-
-
-
3GainND
PGBD5-
-
-
-
4GainND
PGLSp.R214C
Missense
SNP
0.524
2-ND
PGLYRP3-
-
-
-
4GainND
PGLYRP4-
-
-
-
4GainND
PHACTR3-
-
-
-
1LossND
PHF11-
-
-
-
3GainND
PHF14-
-
-
-
3GainND
PHKG1-
-
-
-
3GainND
PHLDA3-
-
-
-
4GainND
PHTF2-
-
-
-
3GainND
PI4KB-
-
-
-
4GainND
PIAS3-
-
-
-
5AmpND
PIBF1-
-
-
-
3GainND
PIGC-
-
-
-
4GainND
PIGM-
-
-
-
4GainND
PIGOp.R690H
Missense
SNP
0.424
2-ND
PIGR-
-
-
-
4GainND
PIK3C2B-
-
-
-
4GainND
PIK3CAp.C420R
Missense
SNP
0.483
2-ND
PIK3CG-
-
-
-
3GainND
PILRA-
-
-
-
3GainND
PILRB-
-
-
-
3GainND
PIP5K1A-
-
-
-
4GainND
PKD1L1-
-
-
-
3GainND
PKDREJp.K700N
p.A160V
Missense
Missense
SNP
SNP
0.530
0.323
2-ND
PKLR-
-
-
-
4GainND
PKNOX2-
-
-
-
3GainND
PKP1-
-
-
-
4GainND
PLA2G4A-
-
-
-
6AmpND
PLCL1p.P228H
Missense
SNP
0.520
2-ND
PLD5-
-
-
-
4GainND
PLECp.A2480V
Missense
SNP
0.474
2-ND
PLEKHA6-
-
-
-
4GainND
PLEKHA8-
-
-
-
3GainND
PLEKHO1-
-
-
-
4GainND
PLOD3-
-
-
-
3GainND
PLXNA2-
-
-
-
4GainND
PLXNA3p.C918S
Missense
SNP
0.417
NDNDND
PLXNB3p.R1362C
Missense
SNP
0.478
NDNDND
PM20D1-
-
-
-
4GainND
PMEPA1-
-
-
-
1LossND
PMF1-
-
-
-
4GainND
PMF1-BGLAP-
-
-
-
4GainND
PMPCB-
-
-
-
3GainND
PMS2-
-
-
-
3GainND
PMVK-
-
-
-
4GainND
PNPLA8-
-
-
-
3GainND
POGK-
-
-
-
4GainND
POGZp.R1074C
Missense
SNP
0.247
4GainND
POLD2-
-
-
-
3GainND
POLM-
-
-
-
3GainND
POLR1D-
-
-
-
3GainND
POLR2J-
-
-
-
3GainND
POLR2J2-
-
-
-
1LossND
POLR2J3-
-
-
-
1LossND
POLR3C-
-
-
-
5AmpND
POLR3GL-
-
-
-
5AmpND
POM121-
-
-
-
3GainND
POM121C-
-
-
-
3GainND
POM121L12-
-
-
-
3GainND
POMP-
-
-
-
3GainND
POMZP3-
-
-
-
3GainND
PON1-
-
-
-
3GainND
PON2-
-
-
-
3GainND
PON3-
-
-
-
3GainND
POP7-
-
-
-
3GainND
POR-
-
-
-
3GainND
POSTN-
-
-
-
3GainND
POTEB-
-
-
-
3GainND
POTEB2-
-
-
-
3GainND
POU2F1-
-
-
-
4GainND
POU4F1-
-
-
-
3GainND
POU6F2-
-
-
-
3GainND
PPDPF-
-
-
-
1LossND
PPFIA4-
-
-
-
4GainND
PPIA-
-
-
-
3GainND
PPOX-
-
-
-
4GainND
PPP1R12B-
-
-
-
4GainND
PPP1R15B-
-
-
-
4GainND
PPP1R17-
-
-
-
3GainND
PPP1R1Ap.S67F
Missense
SNP
0.404
2-ND
PPP1R35-
-
-
-
3GainND
PPP1R3D-
-
-
-
1LossND
PPP1R9A-
-
-
-
3GainND
PPP2R5A-
-
-
-
4GainND
PPRC1p.P446H
Missense
SNP
0.517
2-ND
PRAG1-
-
-
-
1LossND
PRCC-
-
-
-
4GainND
PRDM10-
-
-
-
3GainND
PRDX6-
-
-
-
4GainND
PRELID3B-
-
-
-
1LossND
PRELP-
-
-
-
4GainND
PRG4-
-
-
-
4GainND
PRKAB2-
-
-
-
3GainND
PRKAR1Ap.R13H
Missense
SNP
0.480
2-ND
PRKAR1B-
-
-
-
3GainND
PRKAR2B-
-
-
-
3GainND
PRKCAp.G525D
Missense
SNP
0.474
2-ND
PRKRIP1-
-
-
-
3GainND
PROSER1p.S559F
Missense
SNP
0.318
3GainND
PROX1-
-
-
-
4GainND
PROZ-
-
-
-
3GainND
PRPF3-
-
-
-
4GainND
PRPF6-
-
-
-
1LossND
PRPS1L1-
-
-
-
3GainND
PRR15-
-
-
-
3GainND
PRR23D1-
-
-
-
1LossND
PRR23D2-
-
-
-
1LossND
PRR5p.G15R
Missense
SNP
0.542
2-ND
PRR9-
-
-
-
4GainND
PRRC2C-
-
-
-
4GainND
PRRX1-
-
-
-
4GainND
PRSS38-
-
-
-
4GainND
PRUNE1-
-
-
-
4GainND
PSEN2-
-
-
-
4GainND
PSMA2-
-
-
-
3GainND
PSMA7-
-
-
-
1LossND
PSMB4-
-
-
-
4GainND
PSMC2-
-
-
-
3GainND
PSMD4-
-
-
-
4GainND
PSMG3-
-
-
-
3GainND
PSPC1-
-
-
-
3GainND
PSPH-
-
-
-
3GainND
PTCD1-
-
-
-
3GainND
PTGS2-
-
-
-
6AmpND
PTK6-
-
-
-
1LossND
PTPN12-
-
-
-
3GainND
PTPN14-
-
-
-
4GainND
PTPN7-
-
-
-
4GainND
PTPRCp.R1170S
Missense
SNP
0.292
4GainND
PTPRKp.K923*
Nonsense
SNP
0.490
2-ND
PURB-
-
-
-
3GainND
PUS3-
-
-
-
3GainND
PUS7-
-
-
-
3GainND
PVRIG-
-
-
-
3GainND
PYCR2-
-
-
-
4GainND
PYGO2-
-
-
-
4GainND
PYHIN1-
-
-
-
4GainND
QRFPRp.L93P
Missense
SNP
0.497
2-ND
QSOX1-
-
-
-
4GainND
RAB13-
-
-
-
4GainND
RAB20-
-
-
-
3GainND
RAB22A-
-
-
-
1LossND
RAB25-
-
-
-
4GainND
RAB29-
-
-
-
4GainND
RAB3GAP2-
-
-
-
4GainND
RAB4A-
-
-
-
4GainND
RABGAP1L-
-
-
-
4GainND
RABGEF1-
-
-
-
3GainND
RABIF-
-
-
-
4GainND
RAC1-
-
-
-
3GainND
RAD51Dp.A316T
Missense
SNP
0.593
2-ND
RADIL-
-
-
-
3GainND
RAE1-
-
-
-
1LossND
RALA-
-
-
-
3GainND
RALGPS2-
-
-
-
4GainND
RAMP3-
-
-
-
3GainND
RAP2A-
-
-
-
3GainND
RAPGEF5-
-
-
-
3GainND
RASA3-
-
-
-
3GainND
RASA4-
-
-
-
1LossND
RASA4B-
-
-
-
1LossND
RASAL2-
-
-
-
4GainND
RASGRP1p.S314L
Missense
SNP
0.596
2-ND
RASL11A-
-
-
-
3GainND
RASSF5-
-
-
-
4GainND
RB1p.R320*
Nonsense
SNP
0.793
3GainND
RBAK-
-
-
-
3GainND
RBAK-RBAKDN-
-
-
-
3GainND
RBBP5-
-
-
-
4GainND
RBBP8NL-
-
-
-
1LossND
RBL2p.R493H
Missense
SNP
0.541
2-ND
RBM26p.E997D
Missense
SNP
0.441
3GainND
RBM33p.R529*
Nonsense
SNP
0.510
2-ND
RBM34-
-
-
-
4GainND
RBM38-
-
-
-
1LossND
RBM48-
-
-
-
3GainND
RBM8A-
-
-
-
5AmpND
RBP7p.L78M
Missense
SNP
1.000
2-ND
RC3H1-
-
-
-
4GainND
RCBTB1-
-
-
-
3GainND
RCBTB2-
-
-
-
3GainND
RCC1L-
-
-
-
3GainND
RCOR1p.S235Y
Missense
SNP
0.560
2-ND
RCOR3-
-
-
-
4GainND
RCSD1-
-
-
-
4GainND
RD3-
-
-
-
4GainND
RELN-
-
-
-
3GainND
REN-
-
-
-
4GainND
RFC2p.A225T
Missense
SNP
0.669
3GainND
RFC3-
-
-
-
3GainND
RFX1p.V452M
Missense
SNP
0.414
2-ND
RFX5-
-
-
-
4GainND
RFXAP-
-
-
-
3GainND
RGCC-
-
-
-
3GainND
RGL1-
-
-
-
4GainND
RGPD1-
-
-
-
0DelND
RGPD2-
-
-
-
0DelND
RGS1-
-
-
-
6AmpND
RGS13-
-
-
-
6AmpND
RGS16-
-
-
-
4GainND
RGS18-
-
-
-
6AmpND
RGS19-
-
-
-
1LossND
RGS2-
-
-
-
6AmpND
RGS21-
-
-
-
6AmpND
RGS4-
-
-
-
4GainND
RGS5-
-
-
-
4GainND
RGS7-
-
-
-
4GainND
RGS8-
-
-
-
4GainND
RGSL1-
-
-
-
4GainND
RHBDD2-
-
-
-
3GainND
RHBG-
-
-
-
4GainND
RHEX-
-
-
-
4GainND
RHOU-
-
-
-
4GainND
RIIAD1-
-
-
-
4GainND
RINT1-
-
-
-
3GainND
RIPK1p.R638K
Missense
SNP
0.577
2-ND
RIT1p.A74D
Missense
SNP
0.198
4GainND
RNASEH2B-
-
-
-
3GainND
RNASEL-
-
-
-
4GainND
RNF113B-
-
-
-
3GainND
RNF115-
-
-
-
5AmpND
RNF17-
-
-
-
3GainND
RNF187-
-
-
-
4GainND
RNF2-
-
-
-
4GainND
RNF216-
-
-
-
3GainND
RNF219-
-
-
-
3GainND
RNF6-
-
-
-
3GainND
RNPEP-
-
-
-
4GainND
ROBO3-
-
-
-
3GainND
ROBO4-
-
-
-
3GainND
RORBp.I388N
Missense
SNP
0.513
2-ND
RORC-
-
-
-
4GainND
RP9-
-
-
-
3GainND
RPA3-
-
-
-
3GainND
RPL21-
-
-
-
3GainND
RPRD2-
-
-
-
4GainND
RPS21-
-
-
-
1LossND
RPS27-
-
-
-
4GainND
RPS6KC1-
-
-
-
4GainND
RPS9p.E191D
Missense
SNP
0.535
2-ND
RPTN-
-
-
-
4GainND
RPUSD4-
-
-
-
3GainND
RRNAD1-
-
-
-
4GainND
RRP15-
-
-
-
4GainND
RSBN1L-
-
-
-
3GainND
RSPH10B-
-
-
-
3GainND
RSPH10B2-
-
-
-
3GainND
RSPO1p.R2Q
Missense
SNP
0.411
2-ND
RTEL1-
-
-
-
1LossND
RTEL1-TNFRSF6B-
-
-
-
1LossND
RTF2-
-
-
-
1LossND
RUBCNp.R385H
Missense
SNP
0.520
2-ND
RUBCNL-
-
-
-
3GainND
RUNDC3B-
-
-
-
3GainND
RUSC1-
-
-
-
4GainND
RXFP2-
-
-
-
3GainND
RXFP4-
-
-
-
4GainND
RXRG-
-
-
-
4GainND
RYR2-
-
-
-
4GainND
S100A1-
-
-
-
4GainND
S100A10-
-
-
-
4GainND
S100A11-
-
-
-
4GainND
S100A12-
-
-
-
4GainND
S100A13-
-
-
-
4GainND
S100A14-
-
-
-
4GainND
S100A16-
-
-
-
4GainND
S100A2-
-
-
-
4GainND
S100A3-
-
-
-
4GainND
S100A4-
-
-
-
4GainND
S100A5-
-
-
-
4GainND
S100A6-
-
-
-
4GainND
S100A7-
-
-
-
4GainND
S100A7A-
-
-
-
4GainND
S100A7L2-
-
-
-
4GainND
S100A8-
-
-
-
4GainND
S100A9-
-
-
-
4GainND
SACS-
-
-
-
3GainND
SAMD10-
-
-
-
1LossND
SAMD9-
-
-
-
3GainND
SAMD9L-
-
-
-
3GainND
SAP18-
-
-
-
3GainND
SAP25-
-
-
-
3GainND
SBDS-
-
-
-
3GainND
SCAMP3-
-
-
-
4GainND
SCCPDH-
-
-
-
4GainND
SCEL-
-
-
-
3GainND
SCIN-
-
-
-
3GainND
SCN3B-
-
-
-
3GainND
SCNM1-
-
-
-
4GainND
SCRN1-
-
-
-
3GainND
SCYL3-
-
-
-
4GainND
SDCCAG8-
-
-
-
4GainND
SDE2-
-
-
-
4GainND
SDHAF3-
-
-
-
3GainND
SDHC-
-
-
-
4GainND
SDK1-
-
-
-
3GainND
SEC16B-
-
-
-
4GainND
SEC31Bp.T103I
Missense
SNP
0.448
2-ND
SEC61G-
-
-
-
3GainND
SELE-
-
-
-
4GainND
SELENBP1-
-
-
-
4GainND
SELL-
-
-
-
4GainND
SELP-
-
-
-
4GainND
SEM1-
-
-
-
3GainND
SEMA3A-
-
-
-
3GainND
SEMA3C-
-
-
-
3GainND
SEMA3D-
-
-
-
3GainND
SEMA3E-
-
-
-
3GainND
SEMA4A-
-
-
-
4GainND
SEMA6C-
-
-
-
4GainND
SEPT14-
-
-
-
3GainND
SEPT7-
-
-
-
3GainND
SERP2-
-
-
-
3GainND
SERPINC1-
-
-
-
4GainND
SERPINE1-
-
-
-
3GainND
SERPINE3-
-
-
-
3GainND
SERTAD4-
-
-
-
4GainND
SERTM1-
-
-
-
3GainND
SETDB1-
-
-
-
4GainND
SETDB2-
-
-
-
3GainND
SF3B4-
-
-
-
3GainND
SFRP4-
-
-
-
3GainND
SFT2D2-
-
-
-
4GainND
SGCE-
-
-
-
3GainND
SGCG-
-
-
-
3GainND
SH2B2-
-
-
-
3GainND
SH2D1B-
-
-
-
4GainND
SH2D2A-
-
-
-
4GainND
SH3BP5L-
-
-
-
3GainND
SHC1-
-
-
-
4GainND
SHCBP1L-
-
-
-
4GainND
SHE-
-
-
-
4GainND
SHISA2-
-
-
-
3GainND
SHISA4-
-
-
-
4GainND
SIAE-
-
-
-
3GainND
SIAH3-
-
-
-
3GainND
SIPA1L2-
-
-
-
4GainND
SKA3-
-
-
-
3GainND
SKAP2-
-
-
-
3GainND
SLAIN1-
-
-
-
3GainND
SLAMF1-
-
-
-
4GainND
SLAMF6-
-
-
-
4GainND
SLAMF7-
-
-
-
4GainND
SLAMF8-
-
-
-
4GainND
SLAMF9-
-
-
-
4GainND
SLC10A2-
-
-
-
3GainND
SLC12A7p.V324I
Missense
SNP
0.480
2-ND
SLC12A9-
-
-
-
3GainND
SLC15A1-
-
-
-
3GainND
SLC17A9-
-
-
-
1LossND
SLC19A2-
-
-
-
4GainND
SLC25A13-
-
-
-
3GainND
SLC25A15-
-
-
-
3GainND
SLC25A30-
-
-
-
3GainND
SLC25A40-
-
-
-
3GainND
SLC25A44-
-
-
-
4GainND
SLC26A3-
-
-
-
3GainND
SLC26A4-
-
-
-
3GainND
SLC26A5-
-
-
-
3GainND
SLC26A9-
-
-
-
4GainND
SLC27A3-
-
-
-
4GainND
SLC29A4-
-
-
-
3GainND
SLC2A4RG-
-
-
-
1LossND
SLC30A1-
-
-
-
4GainND
SLC30A10-
-
-
-
4GainND
SLC35F3-
-
-
-
4GainND
SLC37A2-
-
-
-
3GainND
SLC38A8p.R243H
Missense
SNP
0.495
2-ND
SLC39A1-
-
-
-
4GainND
SLC41A1-
-
-
-
4GainND
SLC44A5p.R539H
Missense
SNP
0.476
2-ND
SLC45A3-
-
-
-
4GainND
SLC46A3-
-
-
-
3GainND
SLC4A2p.R371H
Missense
SNP
0.556
2-ND
SLC4A3p.A1194T
Missense
SNP
0.494
2-ND
SLC50A1-
-
-
-
4GainND
SLC6A19p.A387T
Missense
SNP
0.485
2-ND
SLC7A1-
-
-
-
3GainND
SLC9C2-
-
-
-
4GainND
SLCO4A1-
-
-
-
1LossND
SLITRK1-
-
-
-
4GainND
SLITRK5-
-
-
-
4GainND
SLITRK6-
-
-
-
4GainND
SMAD9-
-
-
-
3GainND
SMARCA1p.R993Q
Missense
SNP
0.400
NDNDND
SMARCA4p.G603D
Missense
SNP
0.565
2-ND
SMCP-
-
-
-
4GainND
SMG5-
-
-
-
4GainND
SMG7-
-
-
-
4GainND
SMIM2-
-
-
-
3GainND
SMOp.R512H
Missense
SNP
0.152
2-ND
SMURF1-
-
-
-
3GainND
SMYD2-
-
-
-
4GainND
SMYD3-
-
-
-
4GainND
SNAP47-
-
-
-
4GainND
SNAPIN-
-
-
-
4GainND
SNHG28-
-
-
-
4GainND
SNRPE-
-
-
-
4GainND
SNX10-
-
-
-
3GainND
SNX13-
-
-
-
3GainND
SNX19-
-
-
-
3GainND
SNX27-
-
-
-
4GainND
SNX8-
-
-
-
3GainND
SOAT1-
-
-
-
4GainND
SOHLH2-
-
-
-
3GainND
SOSTDC1-
-
-
-
3GainND
SOX1-
-
-
-
3GainND
SOX13-
-
-
-
4GainND
SOX14p.A127T
Missense
SNP
0.492
2-ND
SOX18-
-
-
-
1LossND
SOX21-
-
-
-
3GainND
SP4-
-
-
-
3GainND
SP8-
-
-
-
3GainND
SPA17-
-
-
-
3GainND
SPACA7-
-
-
-
3GainND
SPAG11A-
-
-
-
1LossND
SPAG11B-
-
-
-
1LossND
SPART-
-
-
-
3GainND
SPATA13-
-
-
-
3GainND
SPATA17-
-
-
-
4GainND
SPATA19-
-
-
-
3GainND
SPATA45-
-
-
-
4GainND
SPATA46-
-
-
-
4GainND
SPATA48-
-
-
-
3GainND
SPCS1-
-
-
-
3GainND
SPDYE3-
-
-
-
3GainND
SPERT-
-
-
-
3GainND
SPHAR-
-
-
-
4GainND
SPO11-
-
-
-
1LossND
SPRR1A-
-
-
-
4GainND
SPRR1B-
-
-
-
4GainND
SPRR3-
-
-
-
4GainND
SPRR4-
-
-
-
4GainND
SPRTN-
-
-
-
4GainND
SPRY2-
-
-
-
3GainND
SPRYD7-
-
-
-
3GainND
SPTA1-
-
-
-
4GainND
SPTBN1p.D1922N
Missense
SNP
0.464
2-ND
SRGAP2-
-
-
-
4GainND
SRGAP2B-
-
-
-
5AmpND
SRI-
-
-
-
3GainND
SRMS-
-
-
-
1LossND
SRP9-
-
-
-
4GainND
SRPK2-
-
-
-
3GainND
SRPRA-
-
-
-
3GainND
SRRM3-
-
-
-
3GainND
SRRT-
-
-
-
3GainND
SS18L1-
-
-
-
1LossND
SSC4D-
-
-
-
3GainND
SSH1p.E190K
Missense
SNP
0.480
2-ND
SSR2-
-
-
-
4GainND
SSTR1p.R218H
Missense
SNP
0.501
2-ND
ST14-
-
-
-
3GainND
ST3GAL4-
-
-
-
3GainND
STAG3-
-
-
-
3GainND
STARD13-
-
-
-
3GainND
STARD3NL-
-
-
-
3GainND
STAU2p.A111V
Missense
SNP
0.518
2-ND
STEAP1-
-
-
-
3GainND
STEAP1B-
-
-
-
3GainND
STEAP2-
-
-
-
3GainND
STEAP4-
-
-
-
3GainND
STK17A-
-
-
-
3GainND
STK24-
-
-
-
3GainND
STK31-
-
-
-
3GainND
STK36p.L705M
Missense
SNP
0.462
2-ND
STMN3-
-
-
-
1LossND
STOML3-
-
-
-
3GainND
STT3A-
-
-
-
3GainND
STUM-
-
-
-
4GainND
STX16-
-
-
-
1LossND
STX16-NPEPL1-
-
-
-
1LossND
STX1A-
-
-
-
3GainND
STX6-
-
-
-
4GainND
STXBP1p.R551C
Missense
SNP
0.564
2-ND
STYXL1-
-
-
-
3GainND
SUCLA2-
-
-
-
3GainND
SUCO-
-
-
-
4GainND
SUGCT-
-
-
-
3GainND
SUGT1-
-
-
-
3GainND
SUMF2-
-
-
-
3GainND
SUN1-
-
-
-
3GainND
SUN3-
-
-
-
3GainND
SUPT20H-
-
-
-
3GainND
SUSD4-
-
-
-
4GainND
SV2A-
-
-
-
3GainND
SVILp.A1004V
p.R895H
Missense
Missense
SNP
SNP
0.489
0.514
2-ND
SWT1-
-
-
-
4GainND
SYCP2-
-
-
-
1LossND
SYPL1-
-
-
-
3GainND
SYT11-
-
-
-
4GainND
SYT14-
-
-
-
4GainND
SYT2-
-
-
-
4GainND
TAB3p.R242K
Missense
SNP
0.452
NDNDND
TAC1-
-
-
-
3GainND
TADA1-
-
-
-
4GainND
TAF1A-
-
-
-
4GainND
TAF4-
-
-
-
1LossND
TAF5L-
-
-
-
4GainND
TAF6-
-
-
-
3GainND
TAGLN2-
-
-
-
4GainND
TARBP1-
-
-
-
4GainND
TARS2-
-
-
-
4GainND
TATDN3-
-
-
-
4GainND
TAX1BP1-
-
-
-
3GainND
TBC1D4-
-
-
-
3GainND
TBCE-
-
-
-
4GainND
TBL2-
-
-
-
3GainND
TBRG1-
-
-
-
3GainND
TBRG4-
-
-
-
3GainND
TBX19-
-
-
-
4GainND
TBX20-
-
-
-
3GainND
TCEA2-
-
-
-
1LossND
TCF20p.A334T
Missense
SNP
0.500
2-ND
TCF23p.R88W
Missense
SNP
0.414
2-ND
TCFL5-
-
-
-
1LossND
TCHH-
-
-
-
4GainND
TCHHL1-
-
-
-
4GainND
TCL1Bp.R43C
Missense
SNP
0.389
2-ND
TDRD10-
-
-
-
4GainND
TDRD3-
-
-
-
3GainND
TDRD5-
-
-
-
4GainND
TDRKH-
-
-
-
4GainND
TECPR1-
-
-
-
3GainND
TEDDM1-
-
-
-
4GainND
TENM4p.R177W
Missense
SNP
0.400
2-ND
TET1p.I1191V
Missense
SNP
0.521
2-ND
TEX15p.A1262V
Missense
SNP
0.526
2-ND
TEX26-
-
-
-
3GainND
TEX29-
-
-
-
3GainND
TEX30-
-
-
-
3GainND
TEX35-
-
-
-
4GainND
TEX47-
-
-
-
3GainND
TEX50-
-
-
-
4GainND
TFAP2C-
-
-
-
1LossND
TFB2M-
-
-
-
4GainND
TFDP1-
-
-
-
3GainND
TFPI2-
-
-
-
3GainND
TFR2-
-
-
-
3GainND
TGDS-
-
-
-
3GainND
TGFB2-
-
-
-
4GainND
THAP5-
-
-
-
3GainND
THBS3-
-
-
-
4GainND
THEM4-
-
-
-
4GainND
THEM5-
-
-
-
4GainND
THSD1-
-
-
-
3GainND
THSD7A-
-
-
-
3GainND
THYN1-
-
-
-
3GainND
TIMM17A-
-
-
-
4GainND
TIPRL-
-
-
-
4GainND
TIRAP-
-
-
-
3GainND
TLR5-
-
-
-
4GainND
TM7SF3p.S59L
Missense
SNP
0.472
2-ND
TM9SF2-
-
-
-
3GainND
TMCC2-
-
-
-
4GainND
TMCO1-
-
-
-
4GainND
TMCO3-
-
-
-
3GainND
TMED4-
-
-
-
3GainND
TMEM106B-
-
-
-
3GainND
TMEM120A-
-
-
-
3GainND
TMEM130-
-
-
-
3GainND
TMEM132Cp.R182W
Missense
SNP
0.533
2-ND
TMEM132Dp.D303N
Missense
SNP
0.466
2-ND
TMEM151Ap.A285T
Missense
SNP
0.516
2-ND
TMEM183A-
-
-
-
4GainND
TMEM184A-
-
-
-
3GainND
TMEM196-
-
-
-
3GainND
TMEM206p.A259T
Missense
SNP
0.693
4GainND
TMEM218-
-
-
-
3GainND
TMEM225-
-
-
-
3GainND
TMEM225B-
-
-
-
3GainND
TMEM243-
-
-
-
3GainND
TMEM248-
-
-
-
3GainND
TMEM255B-
-
-
-
3GainND
TMEM270-
-
-
-
3GainND
TMEM272-
-
-
-
3GainND
TMEM45B-
-
-
-
3GainND
TMEM60-
-
-
-
3GainND
TMEM63A-
-
-
-
4GainND
TMEM79-
-
-
-
4GainND
TMEM81-
-
-
-
4GainND
TMEM86Ap.A194T
Missense
SNP
0.547
2-ND
TMEM9-
-
-
-
4GainND
TMOD4-
-
-
-
4GainND
TMTC4p.V128M
Missense
SNP
0.640
3GainND
TNFAIP8L2-
-
-
-
4GainND
TNFRSF19-
-
-
-
3GainND
TNFRSF6B-
-
-
-
1LossND
TNFSF11-
-
-
-
3GainND
TNFSF13B-
-
-
-
3GainND
TNFSF18-
-
-
-
4GainND
TNFSF4-
-
-
-
4GainND
TNN-
-
-
-
4GainND
TNNI1-
-
-
-
4GainND
TNNT2-
-
-
-
4GainND
TNR-
-
-
-
4GainND
TNRC18-
-
-
-
3GainND
TNS3-
-
-
-
3GainND
TNXB-
-
-
-
1LossND
TOMM20-
-
-
-
4GainND
TOMM40L-
-
-
-
4GainND
TOMM7-
-
-
-
3GainND
TOR1AIP1-
-
-
-
4GainND
TOR1AIP2-
-
-
-
4GainND
TOR3A-
-
-
-
4GainND
TP53AIP1-
-
-
-
3GainND
TP53BP2-
-
-
-
4GainND
TPD52L2-
-
-
-
1LossND
TPM3-
-
-
-
4GainND
TPP1p.R259H
Missense
SNP
0.514
2-ND
TPP2-
-
-
-
3GainND
TPRp.D1971E
Missense
SNP
0.295
4GainND
TPST1-
-
-
-
3GainND
TPT1-
-
-
-
3GainND
TPTE2-
-
-
-
3GainND
TRA2A-
-
-
-
3GainND
TRAF3IP3-
-
-
-
4GainND
TRAF5-
-
-
-
4GainND
TRAF7p.A89T
Missense
SNP
0.493
2-ND
TRIL-
-
-
-
3GainND
TRIM11-
-
-
-
4GainND
TRIM13-
-
-
-
3GainND
TRIM17-
-
-
-
4GainND
TRIM4-
-
-
-
3GainND
TRIM42p.R468W
Missense
SNP
0.507
2-ND
TRIM46-
-
-
-
4GainND
TRIM50-
-
-
-
3GainND
TRIM56-
-
-
-
3GainND
TRIM58-
-
-
-
4GainND
TRIM67-
-
-
-
4GainND
TRIM73-
-
-
-
3GainND
TRIM74-
-
-
-
3GainND
TRIM9p.R488Q
Missense
SNP
0.474
2-ND
TRIOBPp.R885H
Missense
SNP
0.461
2-ND
TRIP6p.A114V
Missense
SNP
0.735
3GainND
TRMT1L-
-
-
-
4GainND
TROVE2-
-
-
-
4GainND
TRPC4-
-
-
-
3GainND
TRPM8p.A875V
Missense
SNP
0.464
2-ND
TRRAP-
-
-
-
3GainND
TSACC-
-
-
-
4GainND
TSC22D1-
-
-
-
3GainND
TSC22D4-
-
-
-
3GainND
TSEN15-
-
-
-
4GainND
TSNAX-
-
-
-
4GainND
TSNAX-DISC1-
-
-
-
4GainND
TSPAN13-
-
-
-
3GainND
TSTD1-
-
-
-
4GainND
TTC13-
-
-
-
4GainND
TTC24-
-
-
-
4GainND
TTNp.L17783H
p.R9438*
Missense
Nonsense
SNP
SNP
0.519
0.126
2-ND
TTYH3-
-
-
-
3GainND
TUBA3C-
-
-
-
3GainND
TUBB1-
-
-
-
1LossND
TUBGCP3-
-
-
-
3GainND
TUFT1-
-
-
-
4GainND
TWIST1-
-
-
-
3GainND
TWISTNB-
-
-
-
3GainND
TXNIP-
-
-
-
5AmpND
TXNRD1p.A10V
Missense
SNP
0.515
2-ND
TYW1-
-
-
-
3GainND
TYW1B-
-
-
-
3GainND
UAP1-
-
-
-
4GainND
UBAC2-
-
-
-
3GainND
UBAP2L-
-
-
-
4GainND
UBASH3B-
-
-
-
3GainND
UBE2D4-
-
-
-
3GainND
UBE2L5-
-
-
-
3GainND
UBE2Q1-
-
-
-
4GainND
UBE2T-
-
-
-
4GainND
UBL3-
-
-
-
3GainND
UBQLN4-
-
-
-
4GainND
UCHL3-
-
-
-
3GainND
UCHL5-
-
-
-
4GainND
UCK2-
-
-
-
4GainND
UCKL1-
-
-
-
1LossND
UFC1-
-
-
-
4GainND
UFM1-
-
-
-
3GainND
UFSP1-
-
-
-
3GainND
UGGT2-
-
-
-
3GainND
UHMK1-
-
-
-
4GainND
UMAD1-
-
-
-
3GainND
UNC80p.G14S
Missense
SNP
0.422
2-ND
UNCX-
-
-
-
3GainND
UPF2p.E1033D
Missense
SNP
0.524
2-ND
UPF3A-
-
-
-
3GainND
UPK3B-
-
-
-
3GainND
UPK3BL1-
-
-
-
1LossND
UPP1-
-
-
-
3GainND
URAD-
-
-
-
3GainND
URB2-
-
-
-
4GainND
URGCP-
-
-
-
3GainND
URGCP-MRPS24-
-
-
-
3GainND
USF1-
-
-
-
4GainND
USH2A-
-
-
-
4GainND
USP12-
-
-
-
3GainND
USP17L1-
-
-
-
1LossND
USP17L3-
-
-
-
1LossND
USP17L4-
-
-
-
1LossND
USP17L8-
-
-
-
1LossND
USP21-
-
-
-
4GainND
USP42-
-
-
-
3GainND
USP7p.A571T
Missense
SNP
0.468
2-ND
USPL1-
-
-
-
3GainND
UTP14C-
-
-
-
3GainND
UTP25-
-
-
-
4GainND
VAMP4-
-
-
-
4GainND
VANGL2-
-
-
-
4GainND
VAPB-
-
-
-
1LossND
VASH2-
-
-
-
4GainND
VEPH1p.D803N
Missense
SNP
0.500
2-ND
VGF-
-
-
-
3GainND
VHLL-
-
-
-
4GainND
VIPR2-
-
-
-
3GainND
VKORC1L1-
-
-
-
3GainND
VOPP1-
-
-
-
3GainND
VPS26B-
-
-
-
3GainND
VPS36-
-
-
-
3GainND
VPS37D-
-
-
-
3GainND
VPS41-
-
-
-
3GainND
VPS45-
-
-
-
4GainND
VPS50-
-
-
-
3GainND
VPS72-
-
-
-
4GainND
VSIG10L2-
-
-
-
3GainND
VSIG2-
-
-
-
3GainND
VSIG8-
-
-
-
4GainND
VSTM2A-
-
-
-
3GainND
VSTM2Bp.R147C
Missense
SNP
0.525
2-ND
VWA5A-
-
-
-
3GainND
VWA8-
-
-
-
3GainND
VWC2-
-
-
-
3GainND
VWDE-
-
-
-
3GainND
WASF3-
-
-
-
3GainND
WBP4-
-
-
-
3GainND
WDFY2-
-
-
-
3GainND
WDFY4p.A999V
Missense
SNP
0.531
2-ND
WDR26-
-
-
-
4GainND
WDR60-
-
-
-
3GainND
WDR64p.R967C
Missense
SNP
0.207
4GainND
WEE2p.E35D
Missense
SNP
1.000
2-ND
WHSC1p.R501H
Missense
SNP
0.396
NDNDND
WIPF3-
-
-
-
3GainND
WIPI2-
-
-
-
3GainND
WNT3A-
-
-
-
4GainND
WNT9A-
-
-
-
4GainND
WWOXp.A211T
Missense
SNP
0.413
2-ND
XCL1-
-
-
-
4GainND
XCL2-
-
-
-
4GainND
XPO4-
-
-
-
3GainND
XPR1-
-
-
-
4GainND
YAE1-
-
-
-
3GainND
YKT6-
-
-
-
3GainND
YOD1-
-
-
-
4GainND
YTHDF1-
-
-
-
1LossND
YWHAG-
-
-
-
3GainND
YY1AP1-
-
-
-
4GainND
ZAN-
-
-
-
3GainND
ZAR1L-
-
-
-
3GainND
ZBED6-
-
-
-
4GainND
ZBP1-
-
-
-
1LossND
ZBTB18p.R48Q
Missense
SNP
0.240
4GainND
ZBTB34p.R392Q
Missense
SNP
0.464
2-ND
ZBTB37-
-
-
-
4GainND
ZBTB41-
-
-
-
4GainND
ZBTB44-
-
-
-
3GainND
ZBTB45p.A201V
Missense
SNP
0.500
2-ND
ZBTB46-
-
-
-
1LossND
ZBTB7Bp.S514F
Missense
SNP
0.316
4GainND
ZC3H11A-
-
-
-
4GainND
ZC3H13-
-
-
-
3GainND
ZCWPW1-
-
-
-
3GainND
ZDHHC20-
-
-
-
3GainND
ZDHHC4-
-
-
-
3GainND
ZFAND2A-
-
-
-
3GainND
ZFP64p.R195W
Missense
SNP
0.481
2-ND
ZGPAT-
-
-
-
1LossND
ZIC2-
-
-
-
3GainND
ZIC5-
-
-
-
3GainND
ZKSCAN1-
-
-
-
3GainND
ZKSCAN5-
-
-
-
3GainND
ZMIZ2-
-
-
-
3GainND
ZMYM2p.T29M
Missense
SNP
0.589
3GainND
ZMYM5-
-
-
-
3GainND
ZNF100-
-
-
-
1LossND
ZNF107-
-
-
-
3GainND
ZNF117-
-
-
-
3GainND
ZNF12-
-
-
-
3GainND
ZNF124-
-
-
-
4GainND
ZNF138-
-
-
-
3GainND
ZNF14-
-
-
-
1LossND
ZNF202-
-
-
-
3GainND
ZNF208-
-
-
-
1LossND
ZNF236p.R146H
Missense
SNP
0.493
2-ND
ZNF253-
-
-
-
1LossND
ZNF254-
-
-
-
1LossND
ZNF257-
-
-
-
1LossND
ZNF273-
-
-
-
3GainND
ZNF281-
-
-
-
4GainND
ZNF3-
-
-
-
3GainND
ZNF316-
-
-
-
3GainND
ZNF319p.R326W
Missense
SNP
0.475
2-ND
ZNF394-
-
-
-
3GainND
ZNF407p.T1662M
Missense
SNP
0.394
2-ND
ZNF429-
-
-
-
1LossND
ZNF43-
-
-
-
1LossND
ZNF430-
-
-
-
1LossND
ZNF431-
-
-
-
1LossND
ZNF479-
-
-
-
3GainND
ZNF486-
-
-
-
1LossND
ZNF492-
-
-
-
1LossND
ZNF493-
-
-
-
1LossND
ZNF496-
-
-
-
4GainND
ZNF506-
-
-
-
1LossND
ZNF512B-
-
-
-
1LossND
ZNF532p.A889T
Missense
SNP
0.508
2-ND
ZNF626-
-
-
-
1LossND
ZNF648-
-
-
-
4GainND
ZNF655-
-
-
-
3GainND
ZNF66-
-
-
-
1LossND
ZNF669-
-
-
-
4GainND
ZNF670-
-
-
-
4GainND
ZNF670-ZNF695-
-
-
-
4GainND
ZNF672-
-
-
-
3GainND
ZNF675-
-
-
-
1LossND
ZNF676-
-
-
-
1LossND
ZNF678-
-
-
-
4GainND
ZNF679-
-
-
-
3GainND
ZNF680-
-
-
-
3GainND
ZNF681-
-
-
-
1LossND
ZNF682-
-
-
-
1LossND
ZNF687-
-
-
-
4GainND
ZNF689p.R217C
Missense
SNP
0.107
2-ND
ZNF692-
-
-
-
3GainND
ZNF695-
-
-
-
4GainND
ZNF708-
-
-
-
1LossND
ZNF713-
-
-
-
3GainND
ZNF714-
-
-
-
1LossND
ZNF716-
-
-
-
3GainND
ZNF723-
-
-
-
1LossND
ZNF724-
-
-
-
1LossND
ZNF726-
-
-
-
1LossND
ZNF727-
-
-
-
3GainND
ZNF728-
-
-
-
1LossND
ZNF729-
-
-
-
1LossND
ZNF730-
-
-
-
1LossND
ZNF735-
-
-
-
3GainND
ZNF736-
-
-
-
3GainND
ZNF737-
-
-
-
1LossND
ZNF738-
-
-
-
1LossND
ZNF789-
-
-
-
3GainND
ZNF804B-
-
-
-
3GainND
ZNF831-
-
-
-
1LossND
ZNF839p.R429C
Missense
SNP
0.544
2-ND
ZNF85-
-
-
-
1LossND
ZNF853-
-
-
-
3GainND
ZNF90-
-
-
-
1LossND
ZNF91-
-
-
-
1LossND
ZNF92-
-
-
-
3GainND
ZNF93-
-
-
-
1LossND
ZNF98-
-
-
-
1LossND
ZNF99-
-
-
-
1LossND
ZNHIT1-
-
-
-
3GainND
ZNRF2-
-
-
-
3GainND
ZP1p.A460T
Missense
SNP
0.515
2-ND
ZP3-
-
-
-
3GainND
ZP4-
-
-
-
4GainND
ZPBP-
-
-
-
3GainND
ZSCAN21-
-
-
-
3GainND
ZSCAN25-
-
-
-
3GainND