PDMR-592915~224-R~A96AZ5-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AARS-
-
-
-
1Loss-
ABCA1p.R972Q
Missense
SNP
0.328
2--
ABCA7-
-
-
-
1Loss-
ABCC4-
-
-
-
1Loss-
ABHD13-
-
-
-
1Loss-
AC008537.1-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC009119.2-
-
-
-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC011511.1-
-
-
-
3Gain-
AC011511.4-
-
-
-
3Gain-
AC012184.2-
-
-
-
1Loss-
AC012476.1-
-
-
-
1Loss-
AC018554.3-
-
-
-
3Gain-
AC025287.4-
-
-
-
1Loss-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC040162.1-
-
-
-
1Loss-
AC074143.1-
-
-
-
1Loss-
AC092143.1-
-
-
-
1Loss-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC104151.1-
-
-
-
1Loss-
AC113348.2-
-
-
-
1Loss-
AC139491.7-
-
-
-
1Loss-
ACAD10-
-
-
-
1Loss-
ACD-
-
-
-
1Loss-
ACOT7-
-
-
-
1Loss-
ACSF3-
-
-
-
1Loss-
ADAD2-
-
-
-
1Loss-
ADAM19-
-
-
-
1Loss-
ADAMTS18-
-
-
-
1Loss-
ADAMTS2-
-
-
-
1Loss-
ADAT1-
-
-
-
1Loss-
ADCK5-
-
-
-
1Loss-
ADK-
-
-
-
1Loss-
ADPRHL1-
-
-
-
1Loss-
ADRA1A-
-
-
-
1Loss-
ADRA1B-
-
-
-
1Loss-
ADSL-
-
-
-
1Loss-
ADSSL1-
-
-
-
1Loss-
AFMID-
-
-
-
1Loss-
AGO2-
-
-
-
1Loss-
AGRP-
-
-
-
1Loss-
AHNAK2-
-
-
-
1Loss-
AKAP11-
-
-
-
1Loss-
AKT1-
-
-
-
1Loss-
AL022238.4-
-
-
-
1Loss-
AL031847.2-
-
-
-
1Loss-
AL162377.3-
-
-
-
1Loss-
AL358113.1-
-
-
-
2-PIP5K1B--AL358113.1
AL512506.3-
-
-
-
1Loss-
AL592490.1-
-
-
-
1Loss-
AL928654.3-
-
-
-
1Loss-
ALG11-
-
-
-
1Loss-
ANKRD10-
-
-
-
1Loss-
ANKRD11-
-
-
-
1Loss-
ANXA7-
-
-
-
1Loss-
AP1G1-
-
-
-
1Loss-
AP3D1-
-
-
-
1Loss-
AP3M1-
-
-
-
1Loss-
AP4S1-
-
-
-
1Loss-
APRT-
-
-
-
1Loss-
ARF4-
-
-
-
1Loss-
ARGLU1-
-
-
-
1Loss-
ARHGAP45-
-
-
-
1Loss-
ARHGEF2-
-
-
-
0Del-
ARHGEF7-
-
-
-
1Loss-
ARID1Bp.Q1362K
Missense
SNP
0.517
2--
ARID3A-
-
-
-
1Loss-
ARL10-
-
-
-
1Loss-
ARL11-
-
-
-
1Loss-
ARL17A-
-
-
-
1Loss-
ARL17B-
-
-
-
1Loss-
ASNA1-
-
-
-
1Loss-
ASPM-
-
-
-
1Loss-
ASTN1p.R1060H
Missense
SNP
0.151
2--
ATAD2B-
-
-
-
1Loss-
ATAT1-
-
-
-
1Loss-
ATMIN-
-
-
-
1Loss-
ATP10B-
-
-
-
1Loss-
ATP11A-
-
-
-
1Loss-
ATP2C2-
-
-
-
1Loss-
ATP4B-
-
-
-
1Loss-
ATP6V0D1-
-
-
-
1Loss-
ATP6V0E1-
-
-
-
1Loss-
ATP7B-
-
-
-
1Loss-
ATXN1L-
-
-
-
1Loss-
ATXN7L3B-
-
-
-
3Gain-
B2M-
-
-
-
0Del-
B3GNT9-
-
-
-
1Loss-
B4GALT7-
-
-
-
1Loss-
BANP-
-
-
-
1Loss-
BCAR1-
-
-
-
1Loss-
BCO1-
-
-
-
1Loss-
BEAN1-
-
-
-
1Loss-
BEST2-
-
-
-
1Loss-
BIRC5-
-
-
-
1Loss-
BNIP1-
-
-
-
1Loss-
BOD1-
-
-
-
1Loss-
BOP1-
-
-
-
1Loss-
BRAP-
-
-
-
1Loss-
BRCA2p.R174G
Missense
SNP
0.247
2--
BRF1-
-
-
-
1Loss-
BTBD6-
-
-
-
1Loss-
BTNL3-
-
-
-
1Loss-
BTNL8-
-
-
-
1Loss-
BTNL9-
-
-
-
1Loss-
C10orf55-
-
-
-
3Gain-
C14orf180-
-
-
-
1Loss-
C16orf46-
-
-
-
1Loss-
C16orf70-
-
-
-
1Loss-
C16orf74-
-
-
-
1Loss-
C16orf86-
-
-
-
1Loss-
C16orf95-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C1orf68-
-
-
-
3Gain-
C1QTNF2-
-
-
-
1Loss-
C21orf58-
-
-
-
1Loss-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C5orf47-
-
-
-
1Loss-
C5orf52-
-
-
-
1Loss-
C5orf58-
-
-
-
1Loss-
C5orf60-
-
-
-
1Loss-
C6orf136-
-
-
-
1Loss-
C8orf59-
-
-
-
1Loss-
CA1-
-
-
-
1Loss-
CA13-
-
-
-
1Loss-
CA2-
-
-
-
1Loss-
CA3-
-
-
-
1Loss-
CA5A-
-
-
-
1Loss-
CA6-
-
-
-
1Loss-
CA7-
-
-
-
1Loss-
CAB39L-
-
-
-
1Loss-
CACTIN-
-
-
-
1Loss-
CALB2-
-
-
-
1Loss-
CAMTA1-
-
-
-
1Loss-
CANX-
-
-
-
1Loss-
CAPS2-
-
-
-
3Gain-
CARMIL2-
-
-
-
1Loss-
CARS2-
-
-
-
1Loss-
CBFA2T3-
-
-
-
1Loss-
CBFB-
-
-
-
1Loss-
CBY3-
-
-
-
1Loss-
CCDC12-
-
-
-
2-SCAP--CCDC12
CCDC122-
-
-
-
1Loss-
CCDC137-
-
-
-
1Loss-
CCDC7-
-
-
-
0Del-
CCDC70-
-
-
-
1Loss-
CCDC74B-
-
-
-
1Loss-
CCNG1-
-
-
-
1Loss-
CCNJL-
-
-
-
1Loss-
CDADC1-
-
-
-
1Loss-
CDC16-
-
-
-
1Loss-
CDCA4-
-
-
-
1Loss-
CDH1-
-
-
-
1Loss-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16-
-
-
-
1Loss-
CDH3-
-
-
-
1Loss-
CDH5-
-
-
-
1Loss-
CDH8-
-
-
-
3Gain-
CDHR2-
-
-
-
1Loss-
CDK10-
-
-
-
1Loss-
CDR2L-
-
-
-
1Loss-
CDT1-
-
-
-
1Loss-
CDYL2-
-
-
-
1Loss-
CELF4-
-
-
-
1Loss-
CENPBD1-
-
-
-
1Loss-
CENPF-
-
-
-
1Loss-
CENPN-
-
-
-
1Loss-
CENPT-
-
-
-
1Loss-
CEP170B-
-
-
-
1Loss-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CFAP70-
-
-
-
1Loss-
CFDP1-
-
-
-
1Loss-
CFHR1-
-
-
-
0Del-
CFHR3-
-
-
-
0Del-
CHAMP1-
-
-
-
1Loss-
CHD5-
-
-
-
1Loss-
CHD8p.R2418W
Missense
SNP
0.433
2--
CHMP1A-
-
-
-
1Loss-
CHRM2p.E272D
Missense
SNP
0.259
2--
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHTF8-
-
-
-
1Loss-
CIAO2B-
-
-
-
1Loss-
CKAP2-
-
-
-
1Loss-
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CLBA1-
-
-
-
1Loss-
CLDN10-
-
-
-
1Loss-
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC3A-
-
-
-
1Loss-
CLINT1-
-
-
-
1Loss-
CLK4-
-
-
-
1Loss-
CLSTN1-
-
-
-
1Loss-
CLTB-
-
-
-
1Loss-
CLTC-
-
-
-
2-CLTC--VMP1
CLYBL-
-
-
-
1Loss-
CMC2-
-
-
-
1Loss-
CMIP-
-
-
-
1Loss-
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTR2-
-
-
-
1Loss-
CNMD-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNOT6-
-
-
-
1Loss-
CNTNAP4-
-
-
-
1Loss-
COG3-
-
-
-
1Loss-
COG4-
-
-
-
1Loss-
COG8-
-
-
-
1Loss-
COL23A1-
-
-
-
1Loss-
COL3A1-
-
-
-
3Gain-
COL4A1-
-
-
-
1Loss-
COL4A2-
-
-
-
1Loss-
COL5A2-
-
-
-
3Gain-
COTL1-
-
-
-
1Loss-
COX4I1-
-
-
-
1Loss-
CPB2-
-
-
-
1Loss-
CPEB4-
-
-
-
1Loss-
CPLX2-
-
-
-
1Loss-
CPNE7-
-
-
-
1Loss-
CPSF1-
-
-
-
1Loss-
CRCT1-
-
-
-
3Gain-
CREBRF-
-
-
-
1Loss-
CRIP1-
-
-
-
1Loss-
CRIP2-
-
-
-
1Loss-
CRISPLD2-
-
-
-
1Loss-
CRNN-
-
-
-
3Gain-
CSMD3-
-
-
-
3Gain-
CTCF-
-
-
-
1Loss-
CTNNBIP1-
-
-
-
1Loss-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRL-
-
-
-
1Loss-
CTU2-
-
-
-
1Loss-
CYB5B-
-
-
-
1Loss-
CYBA-
-
-
-
1Loss-
CYFIP2-
-
-
-
1Loss-
CYHR1-
-
-
-
1Loss-
CYP21A2-
-
-
-
1Loss-
CYSLTR2-
-
-
-
1Loss-
DAGLAp.R162H
Missense
SNP
0.422
2--
DAOA-
-
-
-
1Loss-
DBN1-
-
-
-
1Loss-
DBNDD1-
-
-
-
1Loss-
DCK-
-
-
-
2-DCK--SLC4A4
DCT-
-
-
-
1Loss-
DCUN1D2-
-
-
-
1Loss-
DDX1-
-
-
-
1Loss-
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX28-
-
-
-
1Loss-
DDX41-
-
-
-
1Loss-
DEAF1-
-
-
-
0Del-
DEF8-
-
-
-
1Loss-
DEGS2-
-
-
-
1Loss-
DENND6A-
-
-
-
1Loss-
DEPDC5-
-
-
-
1Loss-
DGAT1-
-
-
-
1Loss-
DGKH-
-
-
-
1Loss-
DGLUCY-
-
-
-
1Loss-
DHODH-
-
-
-
1Loss-
DHRS12-
-
-
-
1Loss-
DHX16-
-
-
-
1Loss-
DHX38-
-
-
-
1Loss-
DIRC1-
-
-
-
3Gain-
DLEU7-
-
-
-
0Del-
DNAAF1-
-
-
-
1Loss-
DNAAF5-
-
-
-
1Loss-
DNAJC11-
-
-
-
1Loss-
DNAJC15-
-
-
-
1Loss-
DNAJC3-
-
-
-
1Loss-
DNAJC9-
-
-
-
1Loss-
DOCK2-
-
-
-
1Loss-
DOCK9-
-
-
-
1Loss-
DOK3-
-
-
-
1Loss-
DOT1L-
-
-
-
1Loss-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DRD1-
-
-
-
1Loss-
DUS2-
-
-
-
1Loss-
DUSP1-
-
-
-
1Loss-
DUXB-
-
-
-
1Loss-
DYNC1LI2-
-
-
-
1Loss-
DYNC2H1-
-
-
-
1Loss-
DYNLRB2-
-
-
-
1Loss-
DZIP1-
-
-
-
1Loss-
E2F4-
-
-
-
1Loss-
E2F5-
-
-
-
1Loss-
EBF1-
-
-
-
1Loss-
EBPL-
-
-
-
1Loss-
ECD-
-
-
-
1Loss-
EDC4-
-
-
-
1Loss-
EFCAB9-
-
-
-
1Loss-
EFNB2-
-
-
-
1Loss-
EGLN2-
-
-
-
1Loss-
EIF4E1B-
-
-
-
1Loss-
ELF1-
-
-
-
0Del-
ELMO3-
-
-
-
1Loss-
EMC8-
-
-
-
1Loss-
ENKD1-
-
-
-
1Loss-
ENO1-
-
-
-
1Loss-
ENOX1-
-
-
-
1Loss-
EPPK1-
-
-
-
1Loss-
EPSTI1-
-
-
-
1Loss-
ERGIC1-
-
-
-
1Loss-
ERICH6B-
-
-
-
1Loss-
ERRFI1-
-
-
-
1Loss-
ESD-
-
-
-
1Loss-
ESPN-
-
-
-
1Loss-
ESRP1-
-
-
-
1Loss-
ESRP2-
-
-
-
1Loss-
EVA1C-
-
-
-
1Loss-
EVPLp.E1450K
Missense
SNP
0.460
2--
EXOC3L1-
-
-
-
1Loss-
EXOSC6-
-
-
-
1Loss-
F12-
-
-
-
1Loss-
F13B-
-
-
-
1Loss-
FA2H-
-
-
-
1Loss-
FAAP100-
-
-
-
1Loss-
FABP6-
-
-
-
1Loss-
FAF2-
-
-
-
1Loss-
FAM124A-
-
-
-
1Loss-
FAM149B1-
-
-
-
1Loss-
FAM153A-
-
-
-
1Loss-
FAM153B-
-
-
-
1Loss-
FAM153C-
-
-
-
1Loss-
FAM155A-
-
-
-
1Loss-
FAM193B-
-
-
-
1Loss-
FAM19A2-
-
-
-
3Gain-
FAM216B-
-
-
-
1Loss-
FAM71B-
-
-
-
1Loss-
FAM92B-
-
-
-
1Loss-
FANCA-
-
-
-
1Loss-
FARP1-
-
-
-
1Loss-
FARP2-
-
-
-
0Del-
FAT4p.K3350R
Missense
SNP
0.472
2--
FBLL1-
-
-
-
1Loss-
FBXL6-
-
-
-
1Loss-
FBXL8-
-
-
-
1Loss-
FBXO31-
-
-
-
1Loss-
FBXW11-
-
-
-
1Loss-
FDX2-
-
-
-
3Gain-
FGD6-
-
-
-
1Loss-
FGF18-
-
-
-
1Loss-
FGFR4-
-
-
-
1Loss-
FHOD1-
-
-
-
1Loss-
FLG2-
-
-
-
3Gain-
FLT4-
-
-
-
1Loss-
FNDC3A-
-
-
-
1Loss-
FNDC9-
-
-
-
1Loss-
FOSL2-
-
-
-
0Del-
FOXC2-
-
-
-
1Loss-
FOXF1-
-
-
-
1Loss-
FOXH1-
-
-
-
0Del-
FOXI1-
-
-
-
1Loss-
FOXL1-
-
-
-
1Loss-
FOXO1-
-
-
-
0Del-
FSCN2-
-
-
-
1Loss-
FUK-
-
-
-
1Loss-
GABARAPL2-
-
-
-
1Loss-
GABRA1-
-
-
-
1Loss-
GABRA6-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRG2-
-
-
-
1Loss-
GABRP-
-
-
-
1Loss-
GALNS-
-
-
-
1Loss-
GAN-
-
-
-
1Loss-
GAS6-
-
-
-
1Loss-
GAS8-
-
-
-
1Loss-
GATAD2A-
-
-
-
1Loss-
GCSH-
-
-
-
1Loss-
GFOD2-
-
-
-
1Loss-
GFPT2-
-
-
-
1Loss-
GINS1-
-
-
-
2-PYGB--GINS1
GINS2-
-
-
-
1Loss-
GIPC3-
-
-
-
1Loss-
GLG1-
-
-
-
1Loss-
GLIPR1-
-
-
-
3Gain-
GLIPR1L1-
-
-
-
3Gain-
GLIPR1L2-
-
-
-
3Gain-
GLT8D1-
-
-
-
3Gain-
GMCL2-
-
-
-
1Loss-
GNL3-
-
-
-
3Gain-
GPALPP1-
-
-
-
1Loss-
GPI-
-
-
-
1Loss-
GPR108-
-
-
-
1Loss-
GPR132-
-
-
-
1Loss-
GPR153-
-
-
-
1Loss-
GPR157-
-
-
-
1Loss-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR183-
-
-
-
1Loss-
GPRIN1-
-
-
-
1Loss-
GPT-
-
-
-
0Del-
GPX4-
-
-
-
1Loss-
GRIN3B-
-
-
-
1Loss-
GRK1-
-
-
-
1Loss-
GRK6-
-
-
-
1Loss-
GRM6-
-
-
-
1Loss-
GRTP1-
-
-
-
1Loss-
GSE1-
-
-
-
1Loss-
GTF2F2-
-
-
-
1Loss-
GULP1-
-
-
-
3Gain-
H6PD-
-
-
-
1Loss-
HAS3-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HECTD1-
-
-
-
1Loss-
HES2-
-
-
-
1Loss-
HES3-
-
-
-
1Loss-
HIGD2A-
-
-
-
1Loss-
HK3-
-
-
-
1Loss-
HMG20B-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HNRNPAB-
-
-
-
1Loss-
HNRNPH1-
-
-
-
1Loss-
HNRNPM-
-
-
-
1Loss-
HOOK2-
-
-
-
1Loss-
HP-
-
-
-
1Loss-
HPR-
-
-
-
1Loss-
HRp.R807W
Missense
SNP
0.430
2--
HRH2-
-
-
-
1Loss-
HS6ST3-
-
-
-
1Loss-
HSBP1-
-
-
-
1Loss-
HSD11B2-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSDL1-
-
-
-
1Loss-
HSF1-
-
-
-
1Loss-
HSF4-
-
-
-
1Loss-
HSPE1-
-
-
-
1Loss-
HSPE1-MOB4-
-
-
-
1Loss-
HTR2A-
-
-
-
1Loss-
HTR4p.V101I
Missense
SNP
0.323
2--
HYDIN-
-
-
-
1Loss-
ICAM1-
-
-
-
3Gain-
ICAM3-
-
-
-
3Gain-
ICAM4-
-
-
-
3Gain-
ICAM5-
-
-
-
3Gain-
ICMT-
-
-
-
1Loss-
IGHD-
-
-
-
1Loss-
IGHV3-72-
-
-
-
1Loss-
IL12B-
-
-
-
1Loss-
IL17C-
-
-
-
1Loss-
IL34-
-
-
-
1Loss-
INF2-
-
-
-
1Loss-
ING1-
-
-
-
1Loss-
INSYN2B-
-
-
-
1Loss-
INTS6-
-
-
-
1Loss-
IPO5-
-
-
-
1Loss-
IRF8-
-
-
-
1Loss-
IRS2-
-
-
-
1Loss-
IST1-
-
-
-
1Loss-
ITGAV-
-
-
-
0Del-
ITGB4-
-
-
-
1Loss-
ITGB6p.V419M
Missense
SNP
0.438
2--
ITK-
-
-
-
1Loss-
ITM2B-
-
-
-
1Loss-
ITM2Cp.R233Q
Missense
SNP
0.295
2--
JAG2-
-
-
-
1Loss-
JAK3p.G36R
Missense
SNP
0.462
2--
JPH3-
-
-
-
1Loss-
KARS-
-
-
-
1Loss-
KBTBD6-
-
-
-
0Del-
KBTBD7-
-
-
-
0Del-
KCNAB2-
-
-
-
1Loss-
KCNC2-
-
-
-
3Gain-
KCNG4-
-
-
-
1Loss-
KCNIP1-
-
-
-
1Loss-
KCNMB1-
-
-
-
1Loss-
KCNRG-
-
-
-
0Del-
KCNT2p.G288R
Missense
SNP
0.427
2--
KCTD19-
-
-
-
1Loss-
KCTD4-
-
-
-
1Loss-
KHDC4-
-
-
-
0Del-
KIAA0355-
-
-
-
1Loss-
KIAA0513-
-
-
-
1Loss-
KIAA0895L-
-
-
-
1Loss-
KIAA1191-
-
-
-
1Loss-
KIAA1328-
-
-
-
1Loss-
KIF1B-
-
-
-
1Loss-
KIF26A-
-
-
-
1Loss-
KIF9-
-
-
-
1Loss-
KIFC2-
-
-
-
1Loss-
KISS1R-
-
-
-
1Loss-
KLHDC4-
-
-
-
1Loss-
KLHL18-
-
-
-
1Loss-
KLHL21-
-
-
-
1Loss-
KLHL36-
-
-
-
1Loss-
KPNA3-
-
-
-
1Loss-
KPRP-
-
-
-
3Gain-
KRR1-
-
-
-
3Gain-
KRT27p.A166T
Missense
SNP
0.587
NDND-
LACC1-
-
-
-
1Loss-
LACTB2-
-
-
-
1Loss-
LAMA1p.Y728S
Missense
SNP
0.446
2--
LAMP1-
-
-
-
1Loss-
LAMTOR2-
-
-
-
1Loss-
LCAT-
-
-
-
1Loss-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3B-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCP1-
-
-
-
1Loss-
LCP2-
-
-
-
1Loss-
LDHD-
-
-
-
1Loss-
LFNGp.R360G
Missense
SNP
0.503
2--
LIG4-
-
-
-
1Loss-
LMAN2-
-
-
-
1Loss-
LPAR6-
-
-
-
1Loss-
LRCH1-
-
-
-
1Loss-
LRIG3-
-
-
-
0Del-
LRRC29-
-
-
-
1Loss-
LRRC36-
-
-
-
1Loss-
LRRC37A-
-
-
-
1Loss-
LRRC37A2-
-
-
-
1Loss-
LRRC63-
-
-
-
1Loss-
LSM11-
-
-
-
1Loss-
LTC4S-
-
-
-
1Loss-
LZIC-
-
-
-
1Loss-
MAF-
-
-
-
1Loss-
MAML1-
-
-
-
1Loss-
MAP10-
-
-
-
1Loss-
MAP1LC3B-
-
-
-
1Loss-
MAPK9-
-
-
-
1Loss-
MARCH2-
-
-
-
1Loss-
MARVELD3-
-
-
-
1Loss-
MAT2B-
-
-
-
1Loss-
MAU2-
-
-
-
1Loss-
MBNL2-
-
-
-
1Loss-
MBTPS1-
-
-
-
1Loss-
MC1R-
-
-
-
1Loss-
MCF2L-
-
-
-
1Loss-
MCM2p.E537K
Missense
SNP
0.476
2--
MDC1-
-
-
-
1Loss-
MED4-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MFSD12-
-
-
-
1Loss-
MGAT1-
-
-
-
1Loss-
MGAT4B-
-
-
-
1Loss-
MIA-
-
-
-
1Loss-
MIA-RAB4B-
-
-
-
1Loss-
MLKL-
-
-
-
1Loss-
MLNR-
-
-
-
1Loss-
MLYCD-
-
-
-
1Loss-
MOB1B-
-
-
-
2-MOB1B--SLC4A4
MOB4-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MON1B-
-
-
-
1Loss-
MPHOSPH6-
-
-
-
1Loss-
MRNIP-
-
-
-
1Loss-
MRPL42-
-
-
-
1Loss-
MRPS16-
-
-
-
1Loss-
MRPS18B-
-
-
-
1Loss-
MRPS31-
-
-
-
0Del-
MRTFA-
-
-
-
1Loss-
MSS51-
-
-
-
1Loss-
MSX2-
-
-
-
1Loss-
MTA1-
-
-
-
1Loss-
MTCL1p.V226M
Missense
SNP
0.462
2--
MTHFSD-
-
-
-
1Loss-
MTRF1-
-
-
-
1Loss-
MTSS1L-
-
-
-
1Loss-
MUC16p.S8081Y
Missense
SNP
0.440
2--
MVD-
-
-
-
1Loss-
MXD3-
-
-
-
1Loss-
MYH2p.R148C
Missense
SNP
0.467
2--
MYO16-
-
-
-
1Loss-
MZT2B-
-
-
-
1Loss-
N4BP3-
-
-
-
1Loss-
NAA16-
-
-
-
1Loss-
NAE1-
-
-
-
1Loss-
NAP1L1-
-
-
-
1Loss-
NAXD-
-
-
-
1Loss-
NBEAL2-
-
-
-
1Loss-
NECAB2-
-
-
-
1Loss-
NEK3-
-
-
-
1Loss-
NEK4-
-
-
-
3Gain-
NEK5-
-
-
-
1Loss-
NEURL1B-
-
-
-
1Loss-
NFAT5-
-
-
-
1Loss-
NFATC3-
-
-
-
1Loss-
NFIX-
-
-
-
1Loss-
NFRKB-
-
-
-
1Loss-
NHP2-
-
-
-
1Loss-
NIP7-
-
-
-
1Loss-
NIPAL4-
-
-
-
1Loss-
NKX2-5-
-
-
-
1Loss-
NMNAT1-
-
-
-
1Loss-
NOB1-
-
-
-
1Loss-
NOL3-
-
-
-
1Loss-
NOL9-
-
-
-
1Loss-
NOP16-
-
-
-
1Loss-
NPC1-
-
-
-
1Loss-
NPHP4-
-
-
-
1Loss-
NPIPB15-
-
-
-
1Loss-
NPLOC4-
-
-
-
1Loss-
NPM1-
-
-
-
1Loss-
NQO1-
-
-
-
1Loss-
NR2C2APp.P161T
Missense
SNP
0.374
2--
NRM-
-
-
-
1Loss-
NRN1L-
-
-
-
1Loss-
NSD1-
-
-
-
1Loss-
NSF-
-
-
-
1Loss-
NSG2-
-
-
-
1Loss-
NUDCD2-
-
-
-
1Loss-
NUDT13-
-
-
-
1Loss-
NUDT14-
-
-
-
1Loss-
NUDT15-
-
-
-
1Loss-
NUDT4-
-
-
-
1Loss-
NUDT7-
-
-
-
1Loss-
NUFIP1-
-
-
-
1Loss-
NUTF2-
-
-
-
1Loss-
OLFM4-
-
-
-
1Loss-
OR2V1-
-
-
-
1Loss-
OR2V2-
-
-
-
1Loss-
OR2Y1-
-
-
-
1Loss-
OSGIN1-
-
-
-
1Loss-
OXGR1-
-
-
-
1Loss-
OXLD1-
-
-
-
1Loss-
P4HA1-
-
-
-
1Loss-
PABPN1L-
-
-
-
1Loss-
PACS2-
-
-
-
1Loss-
PANK3-
-
-
-
1Loss-
PARD6A-
-
-
-
1Loss-
PARK7-
-
-
-
1Loss-
PATL2-
-
-
-
1Loss-
PCCA-
-
-
-
0Del-
PCDH20-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDHGB4p.R712C
Missense
SNP
0.320
2--
PCNT-
-
-
-
1Loss-
PCSK5p.G876E
Missense
SNP
0.424
2--
PDE6G-
-
-
-
1Loss-
PDF-
-
-
-
1Loss-
PDLIM7-
-
-
-
1Loss-
PDP2-
-
-
-
1Loss-
PDPR-
-
-
-
1Loss-
PER3-
-
-
-
1Loss-
PFN3-
-
-
-
1Loss-
PGD-
-
-
-
1Loss-
PHF11-
-
-
-
1Loss-
PHF13-
-
-
-
1Loss-
PHLDA1-
-
-
-
3Gain-
PHLPP2-
-
-
-
1Loss-
PHYKPL-
-
-
-
1Loss-
PIEZO1-
-
-
-
1Loss-
PIK3C3-
-
-
-
3Gain-
PIK3CD-
-
-
-
1Loss-
PIP5K1B-
-
-
-
2-PIP5K1B--AL358113.1
PIP5K1B--TJP2
PIP5K1C-
-
-
-
1Loss-
PKD1L2-
-
-
-
1Loss-
PKD1L3-
-
-
-
1Loss-
PLA2G15-
-
-
-
1Loss-
PLAU-
-
-
-
3Gain-
PLCG2-
-
-
-
1Loss-
PLD4-
-
-
-
1Loss-
PLEC-
-
-
-
1Loss-
PLEKHG4-
-
-
-
1Loss-
PLEKHG5-
-
-
-
1Loss-
PLP1p.V267I
Missense
SNP
0.840
NDND-
PMFBP1-
-
-
-
1Loss-
POLR2E-
-
-
-
1Loss-
POLR3E-
-
-
-
2-POLR3E--SMG1P1
PPP1R16A-
-
-
-
0Del-
PPP1R18-
-
-
-
1Loss-
PPP1R2B-
-
-
-
1Loss-
PPP3CB-
-
-
-
1Loss-
PRDM7-
-
-
-
1Loss-
PRELID1-
-
-
-
1Loss-
PRMT7-
-
-
-
1Loss-
PROP1-
-
-
-
1Loss-
PRR7-
-
-
-
1Loss-
PSKH1-
-
-
-
1Loss-
PSMB10-
-
-
-
1Loss-
PSMD7-
-
-
-
1Loss-
PTPN23-
-
-
-
1Loss-
PTTG1-
-
-
-
1Loss-
PWWP2A-
-
-
-
1Loss-
PYGB-
-
-
-
2-PYGB--GINS1
R3HDM4-
-
-
-
1Loss-
RAB11B-
-
-
-
1Loss-
RAB20-
-
-
-
1Loss-
RAB24-
-
-
-
1Loss-
RAB4B-
-
-
-
1Loss-
RAB4B-EGLN2-
-
-
-
1Loss-
RAB6C-
-
-
-
1Loss-
RACK1-
-
-
-
1Loss-
RAD51-
-
-
-
1Loss-
RANBP10-
-
-
-
1Loss-
RANBP17-
-
-
-
1Loss-
RAP2A-
-
-
-
1Loss-
RARS-
-
-
-
1Loss-
RASA3-
-
-
-
1Loss-
RASGEF1C-
-
-
-
1Loss-
RASSF6p.R100L
Missense
SNP
0.418
2--
RAVER1-
-
-
-
3Gain-
RB1-
-
-
-
1Loss-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBP7-
-
-
-
1Loss-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
REEP3-
-
-
-
1Loss-
RELL2p.R177C
Missense
SNP
0.465
2--
RERE-
-
-
-
1Loss-
RFWD3-
-
-
-
1Loss-
RGCC-
-
-
-
1Loss-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS14-
-
-
-
1Loss-
RHOAp.D120N
Missense
SNP
0.475
2--
RIMS2p.R332H
Missense
SNP
0.470
2--
RIPOR1-
-
-
-
1Loss-
RIT1-
-
-
-
0Del-
RIT2-
-
-
-
3Gain-
RMND5B-
-
-
-
1Loss-
RNASEH2B-
-
-
-
1Loss-
RNF113B-
-
-
-
1Loss-
RNF130-
-
-
-
1Loss-
RNF145-
-
-
-
1Loss-
RNF166-
-
-
-
1Loss-
RNF207-
-
-
-
1Loss-
RNF44-
-
-
-
1Loss-
ROCK1-
-
-
-
5Amp-
RPH3ALp.R187*
Nonsense
SNP
0.789
2--
RPL13-
-
-
-
1Loss-
RPL22-
-
-
-
1Loss-
RPL26L1-
-
-
-
1Loss-
RPS6KA5-
-
-
-
1Loss-
RRAD-
-
-
-
1Loss-
RUBCNL-
-
-
-
1Loss-
RUFY1-
-
-
-
1Loss-
RXFP4-
-
-
-
0Del-
SAP30BP-
-
-
-
1Loss-
SAPCD1-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SCAP-
-
-
-
1LossSCAP--CCDC12
SCGB3A1-
-
-
-
1Loss-
SCRT1-
-
-
-
1Loss-
SCX-
-
-
-
1Loss-
SCYL2-
-
-
-
1Loss-
SDR42E1-
-
-
-
1Loss-
SEPT2-
-
-
-
0Del-
SERP2-
-
-
-
1Loss-
SERPINE3-
-
-
-
1Loss-
SETD2-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETDB2-
-
-
-
1Loss-
SF3B3-
-
-
-
1Loss-
SFXN1-
-
-
-
1Loss-
SGCD-
-
-
-
1Loss-
SGSM3-
-
-
-
1Loss-
SH2D3A-
-
-
-
1Loss-
SH3PXD2B-
-
-
-
1Loss-
SIAH3-
-
-
-
1Loss-
SIMC1-
-
-
-
1Loss-
SIPA1L1-
-
-
-
1Loss-
SIVA1-
-
-
-
1Loss-
SLC12A2-
-
-
-
0Del-
SLC12A4-
-
-
-
1Loss-
SLC15A1-
-
-
-
1Loss-
SLC16A7-
-
-
-
3Gain-
SLC22A31-
-
-
-
1Loss-
SLC25A15-
-
-
-
0Del-
SLC25A30-
-
-
-
1Loss-
SLC25A33-
-
-
-
1Loss-
SLC26A8-
-
-
-
1Loss-
SLC2A5-
-
-
-
1Loss-
SLC2A7-
-
-
-
1Loss-
SLC34A1-
-
-
-
1Loss-
SLC38A8-
-
-
-
1Loss-
SLC39A4-
-
-
-
1Loss-
SLC45A1-
-
-
-
1Loss-
SLC4A4-
-
-
-
2-DCK--SLC4A4
MOB1B--SLC4A4
SLC52A2-
-
-
-
1Loss-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC9A5-
-
-
-
1Loss-
SLIT3-
-
-
-
1Loss-
SLU7-
-
-
-
1Loss-
SMG1P1-
-
-
-
NDNDPOLR3E--SMG1P1
SMIM2-
-
-
-
1Loss-
SMIM23-
-
-
-
1Loss-
SMIM5-
-
-
-
1Loss-
SMIM6-
-
-
-
1Loss-
SMPD3-
-
-
-
1Loss-
SMPD4-
-
-
-
1Loss-
SMYD3-
-
-
-
0Del-
SNAI3-
-
-
-
1Loss-
SNCB-
-
-
-
1Loss-
SNRNP200p.I1358V
Missense
SNP
0.486
2--
SNTB2-
-
-
-
1Loss-
SOX1-
-
-
-
1Loss-
SOX21-
-
-
-
1Loss-
SOX30-
-
-
-
1Loss-
SPACA7-
-
-
-
1Loss-
SPATA2L-
-
-
-
1Loss-
SPATA33-
-
-
-
1Loss-
SPCS1-
-
-
-
3Gain-
SPDL1-
-
-
-
1Loss-
SPEGp.R2958*
Nonsense
SNP
0.515
2--
SPERT-
-
-
-
1Loss-
SPG7-
-
-
-
1Loss-
SPIRE2-
-
-
-
1Loss-
SPRYD7-
-
-
-
1Loss-
SPSB1-
-
-
-
1Loss-
SQSTM1-
-
-
-
1Loss-
SSR2-
-
-
-
1Loss-
ST3GAL2-
-
-
-
1Loss-
STC2-
-
-
-
1Loss-
STK10-
-
-
-
1Loss-
STK11-
-
-
-
0Del-
STK24-
-
-
-
1Loss-
STRN3-
-
-
-
1Loss-
SUCLA2-
-
-
-
1Loss-
SUGT1-
-
-
-
1Loss-
SUN1-
-
-
-
1Loss-
SYCE1L-
-
-
-
1Loss-
SYT4-
-
-
-
3Gain-
TAF1C-
-
-
-
1Loss-
TAF2-
-
-
-
1Loss-
TANGO6-
-
-
-
1Loss-
TAS1R1-
-
-
-
1Loss-
TAT-
-
-
-
1Loss-
TBC1D5-
-
-
-
1Loss-
TBC1D9B-
-
-
-
1Loss-
TBXA2R-
-
-
-
1Loss-
TCF25-
-
-
-
1Loss-
TDRD3-
-
-
-
1Loss-
TEDC1-
-
-
-
1Loss-
TENM2-
-
-
-
1Loss-
TERB1-
-
-
-
1Loss-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TEX22-
-
-
-
1Loss-
TEX29-
-
-
-
1Loss-
TFDP1-
-
-
-
1Loss-
TGDS-
-
-
-
1Loss-
THAP11-
-
-
-
1Loss-
THAP3-
-
-
-
1Loss-
THG1L-
-
-
-
1Loss-
THOC3-
-
-
-
1Loss-
THSD1-
-
-
-
1Loss-
THUMPD3-
-
-
-
1Loss-
TIMD4-
-
-
-
1Loss-
TJP2-
-
-
-
2-PIP5K1B--TJP2
TJP3-
-
-
-
1Loss-
TK2-
-
-
-
1Loss-
TLDC1-
-
-
-
1Loss-
TLE7-
-
-
-
1Loss-
TLX3-
-
-
-
1Loss-
TM9SF2-
-
-
-
1Loss-
TMCO3-
-
-
-
1Loss-
TMED6-
-
-
-
1Loss-
TMED9-
-
-
-
1Loss-
TMEM121-
-
-
-
1Loss-
TMEM170A-
-
-
-
1Loss-
TMEM179-
-
-
-
1Loss-
TMEM201-
-
-
-
1Loss-
TMEM208-
-
-
-
1Loss-
TMEM231-
-
-
-
1Loss-
TMEM249-
-
-
-
1Loss-
TMEM255B-
-
-
-
1Loss-
TMEM259-
-
-
-
1Loss-
TMEM272-
-
-
-
1Loss-
TMEM45B-
-
-
-
1Loss-
TMEM80-
-
-
-
0Del-
TNFRSF25-
-
-
-
1Loss-
TNFRSF9-
-
-
-
1Loss-
TNFSF11-
-
-
-
1Loss-
TNFSF13B-
-
-
-
1Loss-
TNXB-
-
-
-
1Loss-
TONSL-
-
-
-
1Loss-
TPPP3-
-
-
-
1Loss-
TPT1-
-
-
-
1Loss-
TRADD-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRAM1-
-
-
-
1Loss-
TRAPPC12-
-
-
-
1Loss-
TRAPPC2L-
-
-
-
1Loss-
TRIM13-
-
-
-
0Del-
TRIM41-
-
-
-
1Loss-
TRIM52-
-
-
-
1Loss-
TRIM7-
-
-
-
1Loss-
TRIP10-
-
-
-
1Loss-
TRIR-
-
-
-
1Loss-
TSC22D1-
-
-
-
1Loss-
TSNAXIP1-
-
-
-
1Loss-
TSPAN10-
-
-
-
1Loss-
TSPAN17-
-
-
-
1Loss-
TTC1-
-
-
-
1Loss-
TUBA3E-
-
-
-
1Loss-
TUBB-
-
-
-
1Loss-
TUBB3-
-
-
-
1Loss-
TUBGCP3-
-
-
-
1Loss-
TXNL4B-
-
-
-
1Loss-
TYK2-
-
-
-
3Gain-
UBAC2-
-
-
-
1Loss-
UBE2N-
-
-
-
1Loss-
UBE4B-
-
-
-
1Loss-
UBLCP1-
-
-
-
1Loss-
UBQLN4-
-
-
-
1Loss-
UBTD2-
-
-
-
1Loss-
UBXN2A-
-
-
-
1Loss-
UGGT2-
-
-
-
1Loss-
UIMC1-
-
-
-
1Loss-
UNC5A-
-
-
-
1Loss-
UNC5Cp.T267K
Missense
SNP
0.519
2--
UNCXp.R172W
Missense
SNP
0.415
2--
UPF3A-
-
-
-
1Loss-
USP10-
-
-
-
1Loss-
UTP14C-
-
-
-
1Loss-
UTP4-
-
-
-
1Loss-
UTS2-
-
-
-
1Loss-
VAC14-
-
-
-
1Loss-
VAMP3-
-
-
-
1Loss-
VAT1L-
-
-
-
1Loss-
VCL-
-
-
-
1Loss-
VEZT-
-
-
-
1Loss-
VMP1-
-
-
-
2-CLTC--VMP1
VPS28-
-
-
-
1Loss-
VPS36-
-
-
-
1Loss-
VPS4A-
-
-
-
1Loss-
VPS9D1-
-
-
-
1Loss-
VWA7-
-
-
-
1Loss-
VWA8-
-
-
-
1Loss-
WBP4-
-
-
-
0Del-
WDFY2-
-
-
-
1Loss-
WDR18-
-
-
-
1Loss-
WDR59-
-
-
-
1Loss-
WFDC1-
-
-
-
1Loss-
WWC1-
-
-
-
1Loss-
WWOX-
-
-
-
1Loss-
WWP2-
-
-
-
1Loss-
XKR9-
-
-
-
1Loss-
YBEY-
-
-
-
1Loss-
YY1-
-
-
-
1Loss-
Z82190.2-
-
-
-
1Loss-
ZBED8-
-
-
-
1Loss-
ZBTB42-
-
-
-
1Loss-
ZBTB48-
-
-
-
1Loss-
ZC3H13-
-
-
-
1Loss-
ZC3H15-
-
-
-
1Loss-
ZC3H18-
-
-
-
1Loss-
ZCCHC14-
-
-
-
1Loss-
ZDHHC1-
-
-
-
1Loss-
ZDHHC7-
-
-
-
1Loss-
ZFHX3-
-
-
-
1Loss-
ZFP1-
-
-
-
1Loss-
ZFP2-
-
-
-
1Loss-
ZFP62-
-
-
-
1Loss-
ZFP90-
-
-
-
1Loss-
ZFPM1-
-
-
-
1Loss-
ZGLP1-
-
-
-
3Gain-
ZIC2-
-
-
-
1Loss-
ZIC5-
-
-
-
1Loss-
ZNF19-
-
-
-
1Loss-
ZNF208p.S94Y
Missense
SNP
0.373
2--
ZNF23-
-
-
-
1Loss-
ZNF276-
-
-
-
1Loss-
ZNF346-
-
-
-
1Loss-
ZNF347p.Q251*
Nonsense
SNP
0.469
2--
ZNF354A-
-
-
-
1Loss-
ZNF354B-
-
-
-
1Loss-
ZNF354C-
-
-
-
1Loss-
ZNF454-
-
-
-
1Loss-
ZNF469-
-
-
-
1Loss-
ZNF75Dp.S490L
Missense
SNP
0.770
NDND-
ZNF778-
-
-
-
1Loss-
ZNF821-
-
-
-
1Loss-
ZNF879-
-
-
-
1Loss-
ZNRF1-
-
-
-
1Loss-