PDMR-592915~224-R~A96AZ4IF6NM3-P3

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AARS-
-
-
-
1Loss-
AASS-
-
-
-
3Gain-
ABCA1p.R972Q
Missense
SNP
0.299
2--
ABCA7-
-
-
-
1Loss-
ABCB1-
-
-
-
3Gain-
ABCB4-
-
-
-
3Gain-
ABHD17C-
-
-
-
1Loss-
ABTB1-
-
-
-
1Loss-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC002996.1-
-
-
-
1Loss-
AC004922.1-
-
-
-
3Gain-
AC005020.2-
-
-
-
3Gain-
AC008537.1-
-
-
-
1Loss-
AC009119.2-
-
-
-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC009690.1-
-
-
-
1Loss-
AC009690.3-
-
-
-
1Loss-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC011511.1-
-
-
-
3Gain-
AC011511.4-
-
-
-
3Gain-
AC012184.2-
-
-
-
1Loss-
AC012254.2-
-
-
-
1Loss-
AC012476.1-
-
-
-
1Loss-
AC018554.3-
-
-
-
3Gain-
AC019117.2-
-
-
-
3Gain-
AC022400.6-
-
-
-
1Loss-
AC025287.4-
-
-
-
1Loss-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC040162.1-
-
-
-
1Loss-
AC067752.1-
-
-
-
1Loss-
AC073508.2-
-
-
-
3Gain-
AC074143.1-
-
-
-
1Loss-
AC092143.1-
-
-
-
1Loss-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC093668.1-
-
-
-
3Gain-
AC093668.2-
-
-
-
3Gain-
AC093668.3-
-
-
-
3Gain-
AC104151.1-
-
-
-
1Loss-
AC105052.1-
-
-
-
3Gain-
AC105052.3-
-
-
-
3Gain-
AC138207.3-
-
-
-
NDNDYWHAEP5--AC138207.3
AC245033.1-
-
-
-
1Loss-
ACAD10-
-
-
-
1Loss-
ACAD9-
-
-
-
1Loss-
ACAP2-
-
-
-
1Loss-
ACD-
-
-
-
1Loss-
ACHE-
-
-
-
3Gain-
ACOT7-
-
-
-
1Loss-
ACSBG1-
-
-
-
1Loss-
ACSF3-
-
-
-
1Loss-
ACTL6B-
-
-
-
3Gain-
ADAD2-
-
-
-
1Loss-
ADAM22-
-
-
-
3Gain-
ADAM8-
-
-
-
1Loss-
ADAMTS14-
-
-
-
1Loss-
ADAMTS18-
-
-
-
1Loss-
ADAMTS7-
-
-
-
1Loss-
ADAMTSL3-
-
-
-
1Loss-
ADAT1-
-
-
-
1Loss-
ADGRA1-
-
-
-
1Loss-
ADGRF2-
-
-
-
3Gain-
ADGRF4-
-
-
-
3Gain-
ADK-
-
-
-
0Del-
ADO-
-
-
-
1Loss-
ADPGK-
-
-
-
1Loss-
ADSL-
-
-
-
1Loss-
AFMID-
-
-
-
1Loss-
AGFG2-
-
-
-
3Gain-
AGMO-
-
-
-
3Gain-
AGO2-
-
-
-
1Loss-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGRP-
-
-
-
1Loss-
AHR-
-
-
-
3Gain-
AIFM2-
-
-
-
1Loss-
AKAP13-
-
-
-
1Loss-
AKAP9-
-
-
-
3Gain-
AL022238.4-
-
-
-
1LossAL022238.4--MALAT1
AL031847.2-
-
-
-
1Loss-
AL117339.5-
-
-
-
1Loss-
AL358113.1-
-
-
-
2-PIP5K1B--AL358113.1
AL360181.3-
-
-
-
1Loss-
AL713999.1-
-
-
-
1Loss-
ALDH1L1-
-
-
-
1Loss-
ALDH2-
-
-
-
1Loss-
ALG1L-
-
-
-
1Loss-
ALG1L2-
-
-
-
1Loss-
ALKBH4-
-
-
-
3Gain-
ALOX5-
-
-
-
1Loss-
ALPK3-
-
-
-
1Loss-
ANAPC16-
-
-
-
1Loss-
ANKIB1-
-
-
-
3Gain-
ANKMY2-
-
-
-
3Gain-
ANKRD11-
-
-
-
1Loss-
ANKRD30A-
-
-
-
1Loss-
ANKRD34C-
-
-
-
1Loss-
ANKRD7-
-
-
-
3Gain-
ANO9-
-
-
-
1Loss-
ANTXRL-
-
-
-
1Loss-
ANXA7-
-
-
-
0Del-
ANXA8-
-
-
-
1Loss-
ANXA8L1-
-
-
-
1Loss-
AP1G1-
-
-
-
1Loss-
AP1G2-
-
-
-
1Loss-
AP1S1-
-
-
-
3Gain-
AP2A2-
-
-
-
1Loss-
AP3B2-
-
-
-
1Loss-
AP3D1-
-
-
-
1Loss-
AP3M1-
-
-
-
0Del-
AP4M1-
-
-
-
3Gain-
APOD-
-
-
-
1Loss-
APRT-
-
-
-
1Loss-
ARHGAP22-
-
-
-
1Loss-
ARHGAP45-
-
-
-
1Loss-
ARHGEF2-
-
-
-
0Del-
ARHGEF5-
-
-
-
1Loss-
ARID1Bp.Q1362K
Missense
SNP
0.480
2-ARID1B--GPHN
ARID3A-
-
-
-
1Loss-
ARID3B-
-
-
-
1Loss-
ARIH1-
-
-
-
1Loss-
ARL17A-
-
-
-
1Loss-
ARL17B-
-
-
-
1Loss-
ARL4A-
-
-
-
3Gain-
ARMC10-
-
-
-
3Gain-
ARMC6p.R256H
Missense
SNP
0.483
2--
ARNT2-
-
-
-
1Loss-
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ASB15-
-
-
-
3Gain-
ASB4-
-
-
-
3Gain-
ASCC1-
-
-
-
1Loss-
ASNA1-
-
-
-
1Loss-
ASNS-
-
-
-
3Gain-
ASPM-
-
-
-
1Loss-
ASZ1-
-
-
-
3Gain-
ATAD2B-
-
-
-
1Loss-
ATAT1-
-
-
-
1Loss-
ATMIN-
-
-
-
1Loss-
ATP2C2-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP6V0D1-
-
-
-
1Loss-
ATP6V1G3-
-
-
-
3Gain-
ATXN1L-
-
-
-
1Loss-
ATXN7L1-
-
-
-
3Gain-
AZGP1-
-
-
-
3Gain-
B2M-
-
-
-
0Del-
B3GNT9-
-
-
-
1Loss-
B4GALNT4-
-
-
-
1Loss-
BAG2-
-
-
-
3Gain-
BAIAP2L1-
-
-
-
3Gain-
BANP-
-
-
-
1Loss-
BBS4-
-
-
-
1Loss-
BCAP29-
-
-
-
3Gain-
BCAR1-
-
-
-
1Loss-
BCL2A1-
-
-
-
1Loss-
BCO1-
-
-
-
1Loss-
BEAN1-
-
-
-
1Loss-
BEND6-
-
-
-
3Gain-
BEST2-
-
-
-
1Loss-
BET1-
-
-
-
3Gain-
BET1L-
-
-
-
1Loss-
BHLHA15-
-
-
-
3Gain-
BIRC5-
-
-
-
1Loss-
BMP5-
-
-
-
3Gain-
BMS1-
-
-
-
1Loss-
BMT2-
-
-
-
3Gain-
BNC1-
-
-
-
1Loss-
BOP1-
-
-
-
1Loss-
BRAP-
-
-
-
1Loss-
BRCA2p.R174G
Missense
SNP
0.278
2--
BRI3-
-
-
-
3Gain-
BTBD1-
-
-
-
1Loss-
BUD31-
-
-
-
3Gain-
BZW2-
-
-
-
3Gain-
C10orf105-
-
-
-
1Loss-
C10orf53-
-
-
-
1Loss-
C10orf55-
-
-
-
3Gain-
C10orf71-
-
-
-
1Loss-
C15orf39-
-
-
-
1Loss-
C15orf40-
-
-
-
1Loss-
C16orf46-
-
-
-
1Loss-
C16orf70-
-
-
-
1Loss-
C16orf74-
-
-
-
1Loss-
C16orf86-
-
-
-
1Loss-
C16orf95-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C1GALT1-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C21orf58-
-
-
-
0Del-
C3orf22-
-
-
-
1Loss-
C3orf56-
-
-
-
1Loss-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C6orf136-
-
-
-
1Loss-
C6orf141-
-
-
-
3Gain-
C7orf43-
-
-
-
3Gain-
C7orf61-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8orf59-
-
-
-
1Loss-
CA1-
-
-
-
1Loss-
CA13-
-
-
-
1Loss-
CA2-
-
-
-
1Loss-
CA3-
-
-
-
1Loss-
CA5A-
-
-
-
1Loss-
CA6-
-
-
-
1Loss-
CA7-
-
-
-
1Loss-
CACNA2D1-
-
-
-
3Gain-
CADPS2-
-
-
-
3Gain-
CALB2-
-
-
-
1Loss-
CALCR-
-
-
-
3Gain-
CALY-
-
-
-
1Loss-
CAMK2G-
-
-
-
1Loss-
CAMSAP2-
-
-
-
3Gain-
CAMTA1-
-
-
-
1Loss-
CAPZA2-
-
-
-
3Gain-
CARMIL2-
-
-
-
1Loss-
CARMIL3-
-
-
-
1Loss-
CARS2-
-
-
-
2-NAXD--CARS2
CASD1-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CBFA2T3-
-
-
-
1Loss-
CBFB-
-
-
-
1Loss-
CBLL1-
-
-
-
3Gain-
CBSL-
-
-
-
1Loss-
CCDC115-
-
-
-
1Loss-
CCDC12-
-
-
-
1LossSCAP--CCDC12
CCDC137-
-
-
-
1Loss-
CCDC146-
-
-
-
3Gain-
CCDC33-
-
-
-
1Loss-
CCDC7-
-
-
-
0Del-
CCDC71L-
-
-
-
3Gain-
CCDC74B-
-
-
-
1Loss-
CCR7-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD151-
-
-
-
1Loss-
CD276-
-
-
-
1Loss-
CD36-
-
-
-
3Gain-
CDH1-
-
-
-
1Loss-
CDH11-
-
-
-
1Loss-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16-
-
-
-
1Loss-
CDH23-
-
-
-
1Loss-
CDH3-
-
-
-
1Loss-
CDH5-
-
-
-
1Loss-
CDH8-
-
-
-
3Gain-
CDHR3-
-
-
-
3Gain-
CDHR5-
-
-
-
1Loss-
CDK10-
-
-
-
1Loss-
CDK14-
-
-
-
3Gain-
CDK6-
-
-
-
3Gain-
CDKAL1-
-
-
-
2-E2F3--CDKAL1
CDR2L-
-
-
-
1Loss-
CDT1-
-
-
-
1Loss-
CDYL2-
-
-
-
1Loss-
CELF6-
-
-
-
1Loss-
CEMIP-
-
-
-
1Loss-
CEND1-
-
-
-
1Loss-
CENPBD1-
-
-
-
1Loss-
CENPF-
-
-
-
1Loss-
CENPN-
-
-
-
1Loss-
CENPQ-
-
-
-
3Gain-
CENPT-
-
-
-
1Loss-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CFAP100-
-
-
-
1Loss-
CFAP161-
-
-
-
1Loss-
CFAP46-
-
-
-
1Loss-
CFAP69-
-
-
-
3Gain-
CFAP70-
-
-
-
0Del-
CFDP1-
-
-
-
1Loss-
CFHR1-
-
-
-
0Del-
CFHR3-
-
-
-
0Del-
CFTR-
-
-
-
3Gain-
CGNp.P5S
Missense
SNP
0.498
2--
CHAT-
-
-
-
1Loss-
CHCHD1-
-
-
-
1Loss-
CHCHD6-
-
-
-
1Loss-
CHD5-
-
-
-
1Loss-
CHD8p.R2418W
Missense
SNP
0.633
2--
CHID1-
-
-
-
1Loss-
CHMP1A-
-
-
-
1Loss-
CHRM2p.E272D
Missense
SNP
0.274
2--
CHRNA3-
-
-
-
1Loss-
CHRNA5-
-
-
-
1Loss-
CHRNB4-
-
-
-
1Loss-
CHST13-
-
-
-
1Loss-
CHST3-
-
-
-
1Loss-
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHTF8-
-
-
-
1Loss-
CIAO2B-
-
-
-
1Loss-
CIB2-
-
-
-
1Loss-
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CLDN12-
-
-
-
3Gain-
CLDN15-
-
-
-
3Gain-
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC3A-
-
-
-
1Loss-
CLK3-
-
-
-
1Loss-
CLSTN1-
-
-
-
1Loss-
CMC2-
-
-
-
1Loss-
CMIP-
-
-
-
1Loss-
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTM5-
-
-
-
1Loss-
CMTR2-
-
-
-
1Loss-
CNBP-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNPY4-
-
-
-
3Gain-
CNTNAP4-
-
-
-
1Loss-
COG4-
-
-
-
1Loss-
COG5-
-
-
-
3Gain-
COG8-
-
-
-
1Loss-
COL13A1-
-
-
-
1Loss-
COL1A2-
-
-
-
3Gain-
COL21A1-
-
-
-
3Gain-
COL26A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COL3A1-
-
-
-
3Gain-
COL5A2-
-
-
-
3Gain-
COL6A5-
-
-
-
1Loss-
COMMD4-
-
-
-
1Loss-
COPG1-
-
-
-
1Loss-
COPS6-
-
-
-
3Gain-
COTL1-
-
-
-
1Loss-
COX4I1-
-
-
-
1Loss-
COX5A-
-
-
-
1Loss-
CPEB1-
-
-
-
1Loss-
CPED1-
-
-
-
3Gain-
CPLX3-
-
-
-
1Loss-
CPNE6-
-
-
-
1Loss-
CPNE7-
-
-
-
1Loss-
CPSF4-
-
-
-
3Gain-
CRABP1-
-
-
-
1Loss-
CRACR2B-
-
-
-
1Loss-
CRB1-
-
-
-
3Gain-
CRISP1-
-
-
-
3Gain-
CRISP2-
-
-
-
3Gain-
CRISP3-
-
-
-
3Gain-
CRISPLD2-
-
-
-
1Loss-
CROT-
-
-
-
3Gain-
CRYAA2-
-
-
-
1Loss-
CSGALNACT2-
-
-
-
1Loss-
CSK-
-
-
-
1Loss-
CSMD3-
-
-
-
3Gain-
CSPG4-
-
-
-
1Loss-
CTCF-
-
-
-
1Loss-
CTIF-
-
-
-
1Loss-
CTNNBIP1-
-
-
-
1Loss-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRL-
-
-
-
1Loss-
CTSH-
-
-
-
1Loss-
CTTNBP2-
-
-
-
3Gain-
CTU2-
-
-
-
1Loss-
CUX1-
-
-
-
3Gain-
CXCL12-
-
-
-
1Loss-
CYB5B-
-
-
-
1Loss-
CYBA-
-
-
-
1Loss-
CYP11A1-
-
-
-
1Loss-
CYP1A1-
-
-
-
1Loss-
CYP1A2-
-
-
-
1Loss-
CYP21A2-
-
-
-
1Loss-
CYP2E1-
-
-
-
1Loss-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5-
-
-
-
3Gain-
CYP3A7-
-
-
-
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP51A1-
-
-
-
3Gain-
DAGLAp.R162H
Missense
SNP
0.424
2--
DBF4-
-
-
-
3Gain-
DBNDD1-
-
-
-
1Loss-
DCK-
-
-
-
2-DCK--SLC4A4
DDIT4-
-
-
-
1Loss-
DDX1-
-
-
-
1Loss-
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX21-
-
-
-
1Loss-
DDX28-
-
-
-
1Loss-
DDX50-
-
-
-
1Loss-
DDX59-
-
-
-
3Gain-
DEAF1-
-
-
-
0Del-
DEF8-
-
-
-
1Loss-
DEFB110-
-
-
-
3Gain-
DEFB112-
-
-
-
3Gain-
DEFB113-
-
-
-
3Gain-
DEFB114-
-
-
-
3Gain-
DEFB133-
-
-
-
3Gain-
DEGS2-
-
-
-
1Loss-
DENND1B-
-
-
-
3Gain-
DEPDC5-
-
-
-
1Loss-
DEPP1-
-
-
-
1Loss-
DGAT1-
-
-
-
1Loss-
DGKB-
-
-
-
3Gain-
DGLUCY-
-
-
-
1Loss-
DHODH-
-
-
-
1Loss-
DHRS2-
-
-
-
1Loss-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHX16-
-
-
-
1Loss-
DHX38-
-
-
-
1Loss-
DIRC1-
-
-
-
3Gain-
DLD-
-
-
-
3Gain-
DLX5-
-
-
-
3Gain-
DLX6-
-
-
-
3Gain-
DMTF1-
-
-
-
3Gain-
DNAAF1-
-
-
-
1Loss-
DNAAF5-
-
-
-
1Loss-
DNAJA4-
-
-
-
1Loss-
DNAJB12-
-
-
-
1Loss-
DNAJB8-
-
-
-
1Loss-
DNAJB9-
-
-
-
3Gain-
DNAJC11-
-
-
-
1Loss-
DNAJC2-
-
-
-
3Gain-
DNAJC9-
-
-
-
0Del-
DOCK4-
-
-
-
3Gain-
DOCK6-
-
-
-
3Gain-
DOT1L-
-
-
-
1Loss-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DPYSL4-
-
-
-
1Loss-
DRD4-
-
-
-
1Loss-
DRGX-
-
-
-
1Loss-
DST-
-
-
-
3Gain-
DUS2-
-
-
-
1Loss-
DUS4L-
-
-
-
3Gain-
DUXB-
-
-
-
1Loss-
DYM-
-
-
-
1Loss-
DYNC1I1-
-
-
-
3Gain-
DYNC1LI2-
-
-
-
1Loss-
DYNC2H1-
-
-
-
1Loss-
DYNLRB2-
-
-
-
1Loss-
E2F3-
-
-
-
2-E2F3--CDKAL1
E2F4-
-
-
-
1Loss-
ECD-
-
-
-
0Del-
ECHS1-
-
-
-
1Loss-
EDC3-
-
-
-
1Loss-
EDC4-
-
-
-
1Loss-
EEFSEC-
-
-
-
1Loss-
EFCAB10-
-
-
-
3Gain-
EFCAB12-
-
-
-
1Loss-
EFCC1-
-
-
-
1Loss-
EFHC1-
-
-
-
3Gain-
EFL1-
-
-
-
1Loss-
EFS-
-
-
-
1Loss-
EGLN2-
-
-
-
1Loss-
EGR2-
-
-
-
1Loss-
EIF4EBP2-
-
-
-
1Loss-
ELMO3-
-
-
-
1Loss-
ELOA2-
-
-
-
1Loss-
ELOVL5-
-
-
-
3Gain-
EMC8-
-
-
-
1Loss-
ENKD1-
-
-
-
1Loss-
ENO1-
-
-
-
1Loss-
ENPP2-
-
-
-
2-TAF2--ENPP2
EPG5-
-
-
-
1Loss-
EPHB4-
-
-
-
3Gain-
EPO-
-
-
-
3Gain-
EPPK1-
-
-
-
1Loss-
EPS8L2-
-
-
-
1Loss-
ERCC6-
-
-
-
1Loss-
ERICH5-
-
-
-
1Loss-
ERRFI1-
-
-
-
1Loss-
ESPN-
-
-
-
1Loss-
ESRP1-
-
-
-
1Loss-
ESRP2-
-
-
-
1Loss-
ETFA-
-
-
-
1Loss-
ETV1-
-
-
-
3Gain-
EVA1C-
-
-
-
0Del-
EVPLp.E1450K
Missense
SNP
0.395
2--
EXOC3L1-
-
-
-
1Loss-
EXOSC6-
-
-
-
1Loss-
F13B-
-
-
-
1Loss-
FA2H-
-
-
-
1Loss-
FAAP100-
-
-
-
1Loss-
FAH-
-
-
-
1Loss-
FAM133B-
-
-
-
3Gain-
FAM149B1-
-
-
-
0Del-
FAM170B-
-
-
-
1Loss-
FAM185A-
-
-
-
3Gain-
FAM193A-
-
-
-
1Loss-
FAM200A-
-
-
-
3Gain-
FAM219B-
-
-
-
1Loss-
FAM241B-
-
-
-
1Loss-
FAM243B-
-
-
-
1Loss-
FAM3C-
-
-
-
3Gain-
FAM43A-
-
-
-
1Loss-
FAM83B-
-
-
-
3Gain-
FAM92B-
-
-
-
1Loss-
FANCA-
-
-
-
1Loss-
FARP2-
-
-
-
0Del-
FAT4p.K3350R
Missense
SNP
0.463
2--
FBXL13-
-
-
-
3Gain-
FBXL8-
-
-
-
1Loss-
FBXO22-
-
-
-
1Loss-
FBXO24-
-
-
-
3Gain-
FBXO31-
-
-
-
1Loss-
FBXO9-
-
-
-
3Gain-
FDX2-
-
-
-
3Gain-
FERD3L-
-
-
-
3Gain-
FEZF1-
-
-
-
3Gain-
FGD6-
-
-
-
1Loss-
FGL2-
-
-
-
3Gain-
FHOD1-
-
-
-
1Loss-
FIS1-
-
-
-
3Gain-
FLRT2-
-
-
-
3Gain-
FO681492.1-
-
-
-
1Loss-
FOSL2-
-
-
-
0Del-
FOXC2-
-
-
-
1Loss-
FOXF1-
-
-
-
1Loss-
FOXH1-
-
-
-
0Del-
FOXL1-
-
-
-
1Loss-
FOXP2-
-
-
-
3Gain-
FP565260.1-
-
-
-
1Loss-
FP565260.2-
-
-
-
1Loss-
FP565260.3-
-
-
-
1Loss-
FP565260.4-
-
-
-
1Loss-
FP565260.6-
-
-
-
1Loss-
FRG2B-
-
-
-
1Loss-
FRMPD2-
-
-
-
1Loss-
FSD2-
-
-
-
1Loss-
FUK-
-
-
-
1Loss-
FUOM-
-
-
-
1Loss-
FUT11-
-
-
-
1Loss-
FXYD4-
-
-
-
1Loss-
FZD1-
-
-
-
3Gain-
GABARAPL2-
-
-
-
1Loss-
GAL3ST4-
-
-
-
3Gain-
GALC-
-
-
-
3Gain-
GALNS-
-
-
-
1Loss-
GAN-
-
-
-
1Loss-
GAS8-
-
-
-
1Loss-
GATA2-
-
-
-
1Loss-
GATAD1-
-
-
-
3Gain-
GATAD2A-
-
-
-
1Loss-
GATD1-
-
-
-
1Loss-
GATD3B-
-
-
-
1Loss-
GCLC-
-
-
-
3Gain-
GCM1-
-
-
-
3Gain-
GCSH-
-
-
-
1Loss-
GDF10-
-
-
-
1Loss-
GDF2-
-
-
-
1Loss-
GFOD2-
-
-
-
1Loss-
GFRAL-
-
-
-
3Gain-
GIGYF1-
-
-
-
3Gain-
GINS1-
-
-
-
2-PYGB--GINS1
GINS2-
-
-
-
1Loss-
GJC3-
-
-
-
3Gain-
GLCCI1-
-
-
-
3Gain-
GLG1-
-
-
-
1Loss-
GLYATL3-
-
-
-
3Gain-
GNAI1-
-
-
-
3Gain-
GNAT3-
-
-
-
3Gain-
GNB2-
-
-
-
3Gain-
GNG11-
-
-
-
3Gain-
GNGT1-
-
-
-
3Gain-
GOLGA6B-
-
-
-
1Loss-
GP9-
-
-
-
1Loss-
GPC2-
-
-
-
3Gain-
GPHN-
-
-
-
2-ARID1B--GPHN
GPI-
-
-
-
1Loss-
GPR108-
-
-
-
1Loss-
GPR153-
-
-
-
1Loss-
GPR157-
-
-
-
1Loss-
GPR22-
-
-
-
3Gain-
GPR25-
-
-
-
3Gain-
GPR37-
-
-
-
3Gain-
GPR85-
-
-
-
3Gain-
GPRIN2-
-
-
-
1Loss-
GPT-
-
-
-
0Del-
GPX4-
-
-
-
1Loss-
GRAMD2A-
-
-
-
1Loss-
GRIN3B-
-
-
-
1Loss-
GRM3-
-
-
-
3Gain-
GRM8-
-
-
-
3Gain-
GSAP-
-
-
-
3Gain-
GSE1-
-
-
-
1Loss-
GSTA1-
-
-
-
3Gain-
GSTA2-
-
-
-
3Gain-
GSTA3-
-
-
-
3Gain-
GSTA4-
-
-
-
3Gain-
GSTA5-
-
-
-
3Gain-
GTPBP10-
-
-
-
3Gain-
GULP1-
-
-
-
3Gain-
H1FOO-
-
-
-
1Loss-
H1FX-
-
-
-
1Loss-
H2AFY2-
-
-
-
1Loss-
H2BFS-
-
-
-
1Loss-
H6PD-
-
-
-
1Loss-
HAS3-
-
-
-
1Loss-
HAUS1-
-
-
-
1Loss-
HBP1-
-
-
-
3Gain-
HCN4-
-
-
-
1Loss-
HCRTR2-
-
-
-
3Gain-
HDAC9-
-
-
-
3Gain-
HDGFL3-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HEPACAM2-
-
-
-
3Gain-
HES2-
-
-
-
1Loss-
HES3-
-
-
-
1Loss-
HEXA-
-
-
-
1Loss-
HGF-
-
-
-
3Gain-
HIGD2B-
-
-
-
1Loss-
HK1-
-
-
-
1Loss-
HKDC1-
-
-
-
1Loss-
HMCES-
-
-
-
1Loss-
HMG20A-
-
-
-
1Loss-
HMGCLL1-
-
-
-
3Gain-
HNRNPF-
-
-
-
1Loss-
HNRNPM-
-
-
-
1Loss-
HOMER2-
-
-
-
1Loss-
HOOK2-
-
-
-
1Loss-
HP-
-
-
-
1Loss-
HPR-
-
-
-
1Loss-
HRp.R807W
Missense
SNP
0.477
2--
HRAS-
-
-
-
1Loss-
HSBP1-
-
-
-
1Loss-
HSD11B2-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSDL1-
-
-
-
1Loss-
HSF1-
-
-
-
1Loss-
HSF4-
-
-
-
1Loss-
HSPA13-
-
-
-
3Gain-
HSPE1-
-
-
-
1Loss-
HSPE1-MOB4-
-
-
-
1Loss-
HTR4p.V101I
Missense
SNP
0.274
2--
HYAL4-
-
-
-
3Gain-
HYDIN-
-
-
-
1Loss-
HYKK-
-
-
-
1Loss-
ICA1-
-
-
-
3Gain-
ICAM1-
-
-
-
3Gain-
ICAM3-
-
-
-
3Gain-
ICAM4-
-
-
-
3Gain-
ICAM5-
-
-
-
3Gain-
ICK-
-
-
-
3Gain-
ICMT-
-
-
-
1Loss-
IDH3A-
-
-
-
1Loss-
IER3IP1-
-
-
-
1Loss-
IFITM1-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFRD1-
-
-
-
3Gain-
IFT122-
-
-
-
1Loss-
IFT22-
-
-
-
3Gain-
IL16-
-
-
-
1Loss-
IL17A-
-
-
-
3Gain-
IL17C-
-
-
-
1Loss-
IL17F-
-
-
-
3Gain-
IL25-
-
-
-
1Loss-
IL34-
-
-
-
1Loss-
IMMP2L-
-
-
-
3Gain-
IMP3-
-
-
-
1Loss-
IMP4-
-
-
-
1Loss-
ING3-
-
-
-
3Gain-
INPP5A-
-
-
-
1Loss-
INSYN1-
-
-
-
1Loss-
IQUB-
-
-
-
3Gain-
IREB2-
-
-
-
1Loss-
IRF7-
-
-
-
1Loss-
IRF8-
-
-
-
1Loss-
ISL2-
-
-
-
1Loss-
ISLR-
-
-
-
1Loss-
ISLR2-
-
-
-
1Loss-
ISPD-
-
-
-
3Gain-
IST1-
-
-
-
1Loss-
ISY1-
-
-
-
1Loss-
ISY1-RAB43-
-
-
-
1Loss-
ITGAV-
-
-
-
0Del-
ITGB4-
-
-
-
1Loss-
ITGB6p.V419M
Missense
SNP
0.392
2--
ITGB8-
-
-
-
3Gain-
JAK3p.G36R
Missense
SNP
0.439
2--
JMJD1C-
-
-
-
1Loss-
JPH3-
-
-
-
1Loss-
JPH4-
-
-
-
1Loss-
KANK2-
-
-
-
3Gain-
KARS-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KBTBD12-
-
-
-
1Loss-
KCNAB2-
-
-
-
1Loss-
KCND2-
-
-
-
3Gain-
KCNE1B-
-
-
-
1Loss-
KCNG4-
-
-
-
1Loss-
KCNH2p.A561V
Missense
SNP
0.174
2--
KCNS2-
-
-
-
1Loss-
KCNT2p.G288R
Missense
SNP
0.403
2--
KCTD19-
-
-
-
1Loss-
KHDC4-
-
-
-
0Del-
KIAA0355-
-
-
-
1Loss-
KIAA0513-
-
-
-
1Loss-
KIAA0895L-
-
-
-
1Loss-
KIAA1024-
-
-
-
1Loss-
KIAA1257-
-
-
-
1Loss-
KIAA1324L-
-
-
-
3Gain-
KIAA1586-
-
-
-
3Gain-
KIF14-
-
-
-
3Gain-
KIF1B-
-
-
-
1Loss-
KIF1BP-
-
-
-
1Loss-
KIF9-
-
-
-
1Loss-
KISS1R-
-
-
-
1Loss-
KLF15-
-
-
-
1Loss-
KLHDC4-
-
-
-
1Loss-
KLHL18-
-
-
-
1Loss-
KLHL21-
-
-
-
1Loss-
KLHL31-
-
-
-
3Gain-
KLHL36-
-
-
-
1Loss-
KMT2E-
-
-
-
3Gain-
KNDC1-
-
-
-
1Loss-
KPNA7-
-
-
-
3Gain-
KRIT1-
-
-
-
3Gain-
KRT10-
-
-
-
3Gain-
KRT12-
-
-
-
3Gain-
KRT20-
-
-
-
3Gain-
KRT222-
-
-
-
3Gain-
KRT23-
-
-
-
3Gain-
KRT24-
-
-
-
3Gain-
KRT25-
-
-
-
3Gain-
KRT26-
-
-
-
3Gain-
KRT27p.A166T
Missense
SNP
0.458
3Gain-
KRT28-
-
-
-
3Gain-
KRT39-
-
-
-
3Gain-
KRT40-
-
-
-
3Gain-
KRTAP3-1-
-
-
-
3Gain-
KRTAP3-2-
-
-
-
3Gain-
KRTAP3-3-
-
-
-
3Gain-
LACTB2-
-
-
-
1Loss-
LAMA1p.Y728S
Missense
SNP
0.295
2--
LAMB1-
-
-
-
3Gain-
LAMB4-
-
-
-
3Gain-
LAMTOR4-
-
-
-
3Gain-
LAPTM4B-
-
-
-
1Loss-
LCAT-
-
-
-
1Loss-
LDHD-
-
-
-
1Loss-
LDLR-
-
-
-
3Gain-
LFNGp.R360G
Missense
SNP
0.478
2--
LHFPL3-
-
-
-
3Gain-
LHX9-
-
-
-
3Gain-
LINGO1-
-
-
-
1Loss-
LIPI-
-
-
-
3Gain-
LMAN1L-
-
-
-
1Loss-
LMNTD2-
-
-
-
1Loss-
LMOD2-
-
-
-
3Gain-
LMTK2-
-
-
-
3Gain-
LOXHD1-
-
-
-
1Loss-
LOXL1-
-
-
-
1Loss-
LPCAT4p.G17R
Missense
SNP
0.115
2--
LPP-
-
-
-
1Loss-
LRCH4-
-
-
-
3Gain-
LRIG3-
-
-
-
0Del-
LRRC1-
-
-
-
3Gain-
LRRC17-
-
-
-
3Gain-
LRRC18-
-
-
-
1Loss-
LRRC20-
-
-
-
1Loss-
LRRC27-
-
-
-
1Loss-
LRRC29-
-
-
-
1Loss-
LRRC36-
-
-
-
1Loss-
LRRC37A-
-
-
-
1Loss-
LRRC37A2-
-
-
-
1Loss-
LRRC4-
-
-
-
1Loss-
LRRC56-
-
-
-
1Loss-
LRRC72-
-
-
-
3Gain-
LRRD1-
-
-
-
3Gain-
LRRN3-
-
-
-
3Gain-
LRWD1-
-
-
-
3Gain-
LSG1-
-
-
-
1Loss-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LZIC-
-
-
-
1Loss-
MACC1-
-
-
-
3Gain-
MAF-
-
-
-
1Loss-
MAGI2-
-
-
-
3Gain-
MALAT1-
-
-
-
NDNDAL022238.4--MALAT1
MAN2C1-
-
-
-
1Loss-
MAP1LC3B-
-
-
-
1Loss-
MAPK8-
-
-
-
1Loss-
MARCH2-
-
-
-
1Loss-
MARCH8-
-
-
-
1Loss-
MARVELD3-
-
-
-
1Loss-
MATN2-
-
-
-
1Loss-
MAU2-
-
-
-
1Loss-
MBD4-
-
-
-
1Loss-
MBLAC1-
-
-
-
3Gain-
MBTPS1-
-
-
-
1Loss-
MC1R-
-
-
-
1Loss-
MCM2p.E537K
Missense
SNP
0.264
1Loss-
MCM3-
-
-
-
3Gain-
MCM7-
-
-
-
3Gain-
MCU-
-
-
-
1Loss-
MDC1-
-
-
-
1Loss-
MDFIC-
-
-
-
3Gain-
MEOX2-
-
-
-
3Gain-
MEPCE-
-
-
-
3Gain-
MESD-
-
-
-
1Loss-
MET-
-
-
-
3Gain-
MEX3B-
-
-
-
1Loss-
MGLL-
-
-
-
1Loss-
MIA-
-
-
-
1Loss-
MIA-RAB4B-
-
-
-
1Loss-
MICU1-
-
-
-
1Loss-
MIOS-
-
-
-
3Gain-
MLIP-
-
-
-
3Gain-
MLKL-
-
-
-
1Loss-
MLYCD-
-
-
-
1Loss-
MOB1B-
-
-
-
2-MOB1B--SLC4A4
MOB4-
-
-
-
1Loss-
MOGAT3-
-
-
-
3Gain-
MON1B-
-
-
-
1Loss-
MORF4L1-
-
-
-
1Loss-
MOSPD3-
-
-
-
3Gain-
MPHOSPH6-
-
-
-
1Loss-
MPI-
-
-
-
1Loss-
MRPL4-
-
-
-
3Gain-
MRPL42-
-
-
-
1Loss-
MRPS16-
-
-
-
0Del-
MRPS18B-
-
-
-
1Loss-
MRTFA-
-
-
-
1Loss-
MSMB-
-
-
-
1Loss-
MSS51-
-
-
-
0Del-
MTCL1p.V226M
Missense
SNP
0.504
2--
MTDH-
-
-
-
2-MTDH--VPS13B
MTERF1-
-
-
-
3Gain-
MTG1-
-
-
-
1Loss-
MTHFS-
-
-
-
1Loss-
MTHFSD-
-
-
-
1Loss-
MTSS1L-
-
-
-
1Loss-
MUC1-
-
-
-
1Loss-
MUC12-
-
-
-
3Gain-
MUC16p.S8081Y
Missense
SNP
0.389
2--
MUC17-
-
-
-
3Gain-
MUC20-
-
-
-
1Loss-
MUC3A-
-
-
-
3Gain-
MUC4-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUT-
-
-
-
3Gain-
MVD-
-
-
-
1Loss-
MYH1p.T178I
Missense
SNP
0.476
2--
MYH2p.R148C
Missense
SNP
0.487
2--
MYH6-
-
-
-
1Loss-
MYH7-
-
-
-
1Loss-
MYL10-
-
-
-
3Gain-
MYO9A-
-
-
-
1Loss-
MYOZ1-
-
-
-
1Loss-
MZT2B-
-
-
-
1Loss-
NAE1-
-
-
-
1Loss-
NAMPT-
-
-
-
3Gain-
NAP1L1-
-
-
-
1Loss-
NAPEPLD-
-
-
-
3Gain-
NAT16-
-
-
-
3Gain-
NAXD-
-
-
-
2-NAXD--CARS2
NBEAL2-
-
-
-
1Loss-
NCOA4-
-
-
-
1Loss-
NDST2-
-
-
-
1Loss-
NDUFA4-
-
-
-
3Gain-
NDUFA5-
-
-
-
3Gain-
NECAB2-
-
-
-
1Loss-
NEIL1-
-
-
-
1Loss-
NEK7-
-
-
-
3Gain-
NEO1-
-
-
-
1Loss-
NEUROG3-
-
-
-
1Loss-
NFAT5-
-
-
-
1Loss-
NFATC3-
-
-
-
1Loss-
NFE4-
-
-
-
3Gain-
NFIX-
-
-
-
1Loss-
NFRKB-
-
-
-
1Loss-
NGDN-
-
-
-
1Loss-
NIP7-
-
-
-
1Loss-
NIPAL2-
-
-
-
1Loss-
NKX6-2-
-
-
-
1Loss-
NLRP6-
-
-
-
1Loss-
NMB-
-
-
-
1Loss-
NMNAT1-
-
-
-
1Loss-
NOB1-
-
-
-
1Loss-
NODAL-
-
-
-
1Loss-
NOL3-
-
-
-
1Loss-
NOL9-
-
-
-
1Loss-
NPFFR1-
-
-
-
1Loss-
NPHP4-
-
-
-
1Loss-
NPIPB15-
-
-
-
1Loss-
NPLOC4-
-
-
-
1Loss-
NPTN-
-
-
-
1Loss-
NPTX2-
-
-
-
3Gain-
NPY4R-
-
-
-
1Loss-
NPY4R2-
-
-
-
1Loss-
NQO1-
-
-
-
1Loss-
NR2C2APp.P161T
Missense
SNP
0.383
2--
NR2E3-
-
-
-
1Loss-
NR5A2-
-
-
-
3Gain-
NRBF2-
-
-
-
1Loss-
NRCAM-
-
-
-
3Gain-
NRG4-
-
-
-
1Loss-
NRIP1-
-
-
-
3Gain-
NRL-
-
-
-
1Loss-
NRM-
-
-
-
1Loss-
NRN1L-
-
-
-
1Loss-
NSF-
-
-
-
1Loss-
NUDT13-
-
-
-
0Del-
NUDT4-
-
-
-
1Loss-
NUDT7-
-
-
-
1Loss-
NUTF2-
-
-
-
1Loss-
NXPH1-
-
-
-
3Gain-
NYAP1-
-
-
-
3Gain-
OCM2-
-
-
-
3Gain-
ODF3-
-
-
-
1Loss-
ODF3L1-
-
-
-
1Loss-
OGDHL-
-
-
-
1Loss-
OIT3-
-
-
-
1Loss-
OPN5-
-
-
-
3Gain-
OR13A1-
-
-
-
1Loss-
OR2AE1-
-
-
-
3Gain-
ORAI2-
-
-
-
3Gain-
ORC5-
-
-
-
3Gain-
OSGIN1-
-
-
-
1Loss-
OSR2-
-
-
-
1Loss-
OXLD1-
-
-
-
1Loss-
P4HA1-
-
-
-
0Del-
PABPN1L-
-
-
-
1Loss-
PALD1-
-
-
-
1Loss-
PAOX-
-
-
-
1Loss-
PAQR8-
-
-
-
3Gain-
PARD6A-
-
-
-
1Loss-
PARK7-
-
-
-
1Loss-
PARP6-
-
-
-
1Loss-
PATL2-
-
-
-
1Loss-
PCBD1-
-
-
-
1Loss-
PCK2-
-
-
-
1Loss-
PCLO-
-
-
-
3Gain-
PCNT-
-
-
-
0Del-
PCOLCE-
-
-
-
3Gain-
PCSK5p.G876E
Missense
SNP
0.416
2--
PCYT1A-
-
-
-
1Loss-
PDAP1-
-
-
-
3Gain-
PDE6G-
-
-
-
1Loss-
PDE8A-
-
-
-
1Loss-
PDF-
-
-
-
1Loss-
PDK4-
-
-
-
3Gain-
PDP2-
-
-
-
1Loss-
PDPR-
-
-
-
1Loss-
PEAK1-
-
-
-
1Loss-
PEG10-
-
-
-
3Gain-
PER3-
-
-
-
1Loss-
PEX1-
-
-
-
3Gain-
PGD-
-
-
-
1Loss-
PGGHG-
-
-
-
1Loss-
PGK2-
-
-
-
3Gain-
PHF13-
-
-
-
1Loss-
PHF14-
-
-
-
3Gain-
PHLPP2-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PHTF2-
-
-
-
3Gain-
PIAS2-
-
-
-
1Loss-
PIDD1-
-
-
-
1Loss-
PIEZO1-
-
-
-
1Loss-
PIK3CD-
-
-
-
1Loss-
PIK3CG-
-
-
-
3Gain-
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PIP5K1B-
-
-
-
2-PIP5K1B--AL358113.1
PIP5K1B--TJP2
PKD1L2-
-
-
-
1Loss-
PKD1L3-
-
-
-
1Loss-
PKHD1-
-
-
-
3Gain-
PKM-
-
-
-
1Loss-
PKP3-
-
-
-
1Loss-
PLA2G12B-
-
-
-
1LossPPP3CB--PLA2G12B
PLA2G15-
-
-
-
1Loss-
PLAU-
-
-
-
3Gain-
PLCG2-
-
-
-
1Loss-
PLEC-
-
-
-
1Loss-
PLEKHG4-
-
-
-
1Loss-
PLEKHG5-
-
-
-
1Loss-
PLOD3-
-
-
-
3Gain-
PLXNA1-
-
-
-
1Loss-
PLXND1-
-
-
-
1Loss-
PMFBP1-
-
-
-
1Loss-
PML-
-
-
-
1Loss-
PMPCB-
-
-
-
3Gain-
PNPLA2-
-
-
-
1Loss-
PNPLA8-
-
-
-
3Gain-
PODXL2-
-
-
-
1Loss-
POLR2E-
-
-
-
1Loss-
POLR2J-
-
-
-
3Gain-
POLR2J2-
-
-
-
3Gain-
POLR2J3-
-
-
-
3Gain-
POLR2L-
-
-
-
1Loss-
POLR3E-
-
-
-
2-POLR3E--SMG1P1
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP1-
-
-
-
1Loss-
POP7-
-
-
-
3Gain-
POT1-
-
-
-
3Gain-
POTED-
-
-
-
3Gain-
PPA1-
-
-
-
1Loss-
PPCDC-
-
-
-
1Loss-
PPP1R16A-
-
-
-
0Del-
PPP1R18-
-
-
-
1Loss-
PPP1R2-
-
-
-
1Loss-
PPP1R35-
-
-
-
3Gain-
PPP1R3A-
-
-
-
3Gain-
PPP1R9A-
-
-
-
3Gain-
PPP3CB-
-
-
-
0DelPPP3CB--PLA2G12B
PRAP1-
-
-
-
1Loss-
PRDM7-
-
-
-
1Loss-
PRF1-
-
-
-
1Loss-
PRIM2-
-
-
-
3Gain-
PRKAR2B-
-
-
-
3Gain-
PRKRIP1-
-
-
-
3Gain-
PRMT7-
-
-
-
1Loss-
PRPF8-
-
-
-
2-PRPF8--RNA5-8SN2
PRPS1L1-
-
-
-
3Gain-
PSAP-
-
-
-
1Loss-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSKH1-
-
-
-
1Loss-
PSMA4-
-
-
-
1Loss-
PSMB10-
-
-
-
1Loss-
PSMC2-
-
-
-
3Gain-
PSMD13-
-
-
-
1Loss-
PSMD7-
-
-
-
1Loss-
PSTPIP1-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTCD1-
-
-
-
3Gain-
PTCHD4-
-
-
-
3Gain-
PTDSS2-
-
-
-
1Loss-
PTH1R-
-
-
-
1Loss-
PTPN12-
-
-
-
3Gain-
PTPN18-
-
-
-
1Loss-
PTPN20-
-
-
-
1Loss-
PTPN23-
-
-
-
1Loss-
PTPN9-
-
-
-
1Loss-
PTPRC-
-
-
-
3Gain-
PTPRG-
-
-
-
1Loss-
PTPRZ1-
-
-
-
3Gain-
PUS7-
-
-
-
3Gain-
PVRIG-
-
-
-
3Gain-
PWWP2B-
-
-
-
1Loss-
PYGB-
-
-
-
2-PYGB--GINS1
R3HDM4-
-
-
-
1Loss-
RAB11B-
-
-
-
1Loss-
RAB23-
-
-
-
3Gain-
RAB43-
-
-
-
1Loss-
RAB4B-
-
-
-
1Loss-
RAB4B-EGLN2-
-
-
-
1Loss-
RAB6C-
-
-
-
1Loss-
RAB7A-
-
-
-
1Loss-
RAD51-
-
-
-
1Loss-
RAMAC-
-
-
-
1Loss-
RANBP10-
-
-
-
1Loss-
RASA4-
-
-
-
3Gain-
RASA4B-
-
-
-
3Gain-
RASGEF1A-
-
-
-
1Loss-
RASGRF1-
-
-
-
1Loss-
RASSF4-
-
-
-
1Loss-
RASSF6p.R100L
Missense
SNP
0.575
2--
RASSF7-
-
-
-
1Loss-
RAVER1-
-
-
-
3Gain-
RBFOX2-
-
-
-
2-RBFOX2--SUSD4
RBM11-
-
-
-
3Gain-
RBM48-
-
-
-
3Gain-
RBP3-
-
-
-
1Loss-
RBP7-
-
-
-
1Loss-
RCN2-
-
-
-
1Loss-
REC114-
-
-
-
1Loss-
REEP3-
-
-
-
1Loss-
RELL2p.R177C
Missense
SNP
0.515
2--
RELN-
-
-
-
3Gain-
RERE-
-
-
-
1Loss-
RET-
-
-
-
1Loss-
RFWD3-
-
-
-
1Loss-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RHAG-
-
-
-
3Gain-
RHO-
-
-
-
1Loss-
RHOAp.D120N
Missense
SNP
0.276
2--
RIC8A-
-
-
-
1Loss-
RIDA-
-
-
-
1Loss-
RIMS2p.R332H
Missense
SNP
0.424
2--
RINT1-
-
-
-
3Gain-
RIPOR1-
-
-
-
1Loss-
RIT1-
-
-
-
0Del-
RNA5-8SN2-
-
-
-
NDNDPRPF8--RNA5-8SN2
RNF133-
-
-
-
3Gain-
RNF148-
-
-
-
3Gain-
RNF165-
-
-
-
1Loss-
RNF166-
-
-
-
1Loss-
RNF207-
-
-
-
1Loss-
RNH1-
-
-
-
1Loss-
ROCK1-
-
-
-
3Gain-
ROPN1B-
-
-
-
1Loss-
RPA3-
-
-
-
3Gain-
RPH3ALp.R187*
Nonsense
SNP
1.000
2--
RPL13-
-
-
-
1Loss-
RPL22-
-
-
-
1Loss-
RPL30-
-
-
-
1Loss-
RPLP2-
-
-
-
1Loss-
RPN1-
-
-
-
1Loss-
RPP25-
-
-
-
1Loss-
RPS17-
-
-
-
1Loss-
RPS6KA5-
-
-
-
1Loss-
RRAD-
-
-
-
1Loss-
RSBN1L-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RUNDC3B-
-
-
-
3Gain-
RUVBL1-
-
-
-
1Loss-
RXFP4-
-
-
-
0Del-
SAMD9-
-
-
-
3Gain-
SAMD9L-
-
-
-
3Gain-
SAMSN1-
-
-
-
3Gain-
SAP25-
-
-
-
3Gain-
SAP30BP-
-
-
-
1Loss-
SAPCD1-
-
-
-
1Loss-
SAR1A-
-
-
-
1Loss-
SAXO2-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SCAMP2-
-
-
-
1Loss-
SCAMP5-
-
-
-
1Loss-
SCAP-
-
-
-
1LossSCAP--CCDC12
SCAPER-
-
-
-
1Loss-
SCART1-
-
-
-
1Loss-
SCGB1C1-
-
-
-
1Loss-
SCIN-
-
-
-
3Gain-
SCT-
-
-
-
1Loss-
SCX-
-
-
-
1Loss-
SCYL2-
-
-
-
1Loss-
SDHAF3-
-
-
-
3Gain-
SDR42E1-
-
-
-
1Loss-
SEC11A-
-
-
-
1Loss-
SEC24C-
-
-
-
1Loss-
SEC61A1-
-
-
-
1Loss-
SEM1-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA7A-
-
-
-
1Loss-
SENP8-
-
-
-
1Loss-
SEPT2-
-
-
-
0Del-
SERPINE1-
-
-
-
3Gain-
SETBP1-
-
-
-
1Loss-
SETD2-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SF3B3-
-
-
-
1Loss-
SGCE-
-
-
-
3Gain-
SGPL1-
-
-
-
1Loss-
SGSM3-
-
-
-
1Loss-
SH2B2-
-
-
-
3Gain-
SH2D3A-
-
-
-
1Loss-
SH2D7-
-
-
-
1Loss-
SH3GL3-
-
-
-
1Loss-
SIGIRR-
-
-
-
1Loss-
SIGLEC15-
-
-
-
1Loss-
SIK1B-
-
-
-
1Loss-
SIN3A-
-
-
-
1Loss-
SIPA1L1-
-
-
-
1Loss-
SIRT3-
-
-
-
1Loss-
SKOR2-
-
-
-
1Loss-
SLC12A4-
-
-
-
1Loss-
SLC12A9-
-
-
-
3Gain-
SLC13A1-
-
-
-
3Gain-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC18A3-
-
-
-
1Loss-
SLC22A17-
-
-
-
1Loss-
SLC22A31-
-
-
-
1Loss-
SLC25A13-
-
-
-
3Gain-
SLC25A22-
-
-
-
1Loss-
SLC25A33-
-
-
-
1Loss-
SLC25A40-
-
-
-
3Gain-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A8-
-
-
-
1Loss-
SLC28A1-
-
-
-
1Loss-
SLC29A3-
-
-
-
1Loss-
SLC29A4-
-
-
-
1Loss-
SLC2A5-
-
-
-
1Loss-
SLC2A7-
-
-
-
1Loss-
SLC38A8-
-
-
-
1Loss-
SLC41A3-
-
-
-
1Loss-
SLC45A1-
-
-
-
1Loss-
SLC4A4-
-
-
-
2-DCK--SLC4A4
MOB1B--SLC4A4
SLC51A-
-
-
-
1Loss-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC9A5-
-
-
-
1Loss-
SMAD2-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMARCA4-
-
-
-
3Gain-
SMARCE1-
-
-
-
3Gain-
SMG1P1-
-
-
-
NDNDPOLR3E--SMG1P1
SMIM11B-
-
-
-
1Loss-
SMIM30-
-
-
-
3Gain-
SMIM34B-
-
-
-
1Loss-
SMIM5-
-
-
-
1Loss-
SMIM6-
-
-
-
1Loss-
SMPD3-
-
-
-
1Loss-
SMPD4-
-
-
-
1Loss-
SMURF1-
-
-
-
3Gain-
SMYD3-
-
-
-
0Del-
SNAI3-
-
-
-
1Loss-
SNRNP200p.I1358V
Missense
SNP
0.518
2--
SNTB2-
-
-
-
1Loss-
SNUPN-
-
-
-
1Loss-
SNX13-
-
-
-
3Gain-
SNX33-
-
-
-
1Loss-
SOSTDC1-
-
-
-
3Gain-
SPAM1-
-
-
-
3Gain-
SPATA2L-
-
-
-
1Loss-
SPATA33-
-
-
-
1Loss-
SPC24-
-
-
-
3Gain-
SPDYE3-
-
-
-
3Gain-
SPEGp.R2958*
Nonsense
SNP
0.377
2--
SPG7-
-
-
-
1Loss-
SPIRE2-
-
-
-
1Loss-
SPOCK2-
-
-
-
1Loss-
SPRN-
-
-
-
1Loss-
SPSB1-
-
-
-
1Loss-
SRGN-
-
-
-
1Loss-
SRI-
-
-
-
3Gain-
SRPK2-
-
-
-
3Gain-
SRRT-
-
-
-
3Gain-
SSU72P8-
-
-
-
3Gain-
ST20-
-
-
-
1Loss-
ST20-MTHFS-
-
-
-
1Loss-
ST3GAL2-
-
-
-
1Loss-
ST7-
-
-
-
3Gain-
ST8SIA5-
-
-
-
1Loss-
STAG3-
-
-
-
3Gain-
STARD5-
-
-
-
1Loss-
STEAP1-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP4-
-
-
-
3Gain-
STK11-
-
-
-
0Del-
STK3-
-
-
-
1Loss-
STK32C-
-
-
-
1Loss-
STOML1-
-
-
-
1Loss-
STOX1-
-
-
-
1Loss-
STRA6-
-
-
-
1Loss-
STRN3-
-
-
-
0Del-
SUN1-
-
-
-
1Loss-
SUPV3L1-
-
-
-
1Loss-
SUSD4-
-
-
-
2-RBFOX2--SUSD4
SYCE1-
-
-
-
1Loss-
SYCE1L-
-
-
-
1Loss-
SYNPO2L-
-
-
-
1Loss-
SYPL1-
-
-
-
3Gain-
SYT15-
-
-
-
1Loss-
TAC1-
-
-
-
3Gain-
TACR2-
-
-
-
1Loss-
TAF1C-
-
-
-
1Loss-
TAF2-
-
-
-
1LossTAF2--ENPP2
TAF6-
-
-
-
3Gain-
TALDO1-
-
-
-
1Loss-
TANGO6-
-
-
-
1Loss-
TAS1R1-
-
-
-
1Loss-
TAS2R16-
-
-
-
3Gain-
TAT-
-
-
-
1Loss-
TBATA-
-
-
-
1Loss-
TBC1D21-
-
-
-
1Loss-
TBC1D2B-
-
-
-
1Loss-
TBC1D5-
-
-
-
1Loss-
TCF25-
-
-
-
1Loss-
TCF7L2-
-
-
-
0Del-
TECPR1-
-
-
-
3Gain-
TERB1-
-
-
-
1Loss-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TES-
-
-
-
3Gain-
TEX47-
-
-
-
3Gain-
TFAP2B-
-
-
-
3Gain-
TFAP2D-
-
-
-
3Gain-
TFEC-
-
-
-
3Gain-
TFPI2-
-
-
-
3Gain-
TFR2-
-
-
-
3Gain-
TFRC-
-
-
-
1Loss-
THAP11-
-
-
-
1Loss-
THAP3-
-
-
-
1Loss-
THAP5-
-
-
-
3Gain-
THBS3-
-
-
-
1Loss-
THSD7A-
-
-
-
3Gain-
THTPA-
-
-
-
1Loss-
THUMPD3-
-
-
-
1Loss-
TIMM23-
-
-
-
1Loss-
TINAG-
-
-
-
3Gain-
TJP2-
-
-
-
2-PIP5K1B--TJP2
TK2-
-
-
-
1Loss-
TLDC1-
-
-
-
1Loss-
TLE7-
-
-
-
1Loss-
TLNRD1-
-
-
-
1Loss-
TM6SF1-
-
-
-
1Loss-
TMC3-
-
-
-
1Loss-
TMCC1-
-
-
-
1Loss-
TMED3-
-
-
-
1Loss-
TMED6-
-
-
-
1Loss-
TMEM106B-
-
-
-
3Gain-
TMEM130-
-
-
-
3Gain-
TMEM14A-
-
-
-
3Gain-
TMEM168-
-
-
-
3Gain-
TMEM170A-
-
-
-
1Loss-
TMEM196-
-
-
-
3Gain-
TMEM201-
-
-
-
1Loss-
TMEM202-
-
-
-
1Loss-
TMEM208-
-
-
-
1Loss-
TMEM225B-
-
-
-
3Gain-
TMEM229A-
-
-
-
3Gain-
TMEM231-
-
-
-
1Loss-
TMEM243-
-
-
-
3Gain-
TMEM259-
-
-
-
1Loss-
TMEM266-
-
-
-
1Loss-
TMEM273-
-
-
-
1Loss-
TMEM44-
-
-
-
1Loss-
TMEM45B-
-
-
-
1Loss-
TMEM60-
-
-
-
3Gain-
TMEM72-
-
-
-
1Loss-
TMEM80-
-
-
-
0Del-
TMEM99-
-
-
-
3Gain-
TNFRSF25-
-
-
-
1Loss-
TNFRSF9-
-
-
-
1Loss-
TNIP2-
-
-
-
1Loss-
TNK2-
-
-
-
1Loss-
TNRC18-
-
-
-
1Loss-
TNXB-
-
-
-
1Loss-
TPPP3-
-
-
-
1Loss-
TPRA1-
-
-
-
1Loss-
TPRG1-
-
-
-
1Loss-
TPTE-
-
-
-
1Loss-
TRADD-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRAM1-
-
-
-
1Loss-
TRAM2-
-
-
-
3Gain-
TRAPPC12-
-
-
-
1Loss-
TRAPPC2L-
-
-
-
1Loss-
TRH-
-
-
-
1Loss-
TRIM4-
-
-
-
3Gain-
TRIM56-
-
-
-
3Gain-
TRIP10-
-
-
-
1Loss-
TRIP6-
-
-
-
3Gain-
TRIR-
-
-
-
1Loss-
TRRAP-
-
-
-
3Gain-
TSC22D4-
-
-
-
3Gain-
TSNAXIP1-
-
-
-
1Loss-
TSPAN10-
-
-
-
1Loss-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN15-
-
-
-
1Loss-
TSPAN3-
-
-
-
1Loss-
TSPAN4-
-
-
-
1Loss-
TUBA3E-
-
-
-
1Loss-
TUBB3-
-
-
-
1Loss-
TUBGCP2-
-
-
-
1Loss-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TXNL4B-
-
-
-
1Loss-
TXNRD3-
-
-
-
1Loss-
TYK2-
-
-
-
3Gain-
TYSND1-
-
-
-
1Loss-
U2AF1L5-
-
-
-
1Loss-
UBE2N-
-
-
-
1Loss-
UBE2Q2-
-
-
-
1Loss-
UBE2Q2L-
-
-
-
1Loss-
UBE4B-
-
-
-
1Loss-
UBL7-
-
-
-
1Loss-
UBXN2A-
-
-
-
1Loss-
UFSP1-
-
-
-
3Gain-
ULK3-
-
-
-
1Loss-
UMAD1-
-
-
-
3Gain-
UNC5B-
-
-
-
1Loss-
UNC5Cp.T267K
Missense
SNP
0.492
2--
UNCXp.R172W
Missense
SNP
0.401
2--
UPK3BL1-
-
-
-
3Gain-
UROC1-
-
-
-
1Loss-
USP10-
-
-
-
1Loss-
USP25-
-
-
-
3Gain-
USP54-
-
-
-
1Loss-
UTF1-
-
-
-
1Loss-
UTP4-
-
-
-
1Loss-
UTS2-
-
-
-
1Loss-
VAC14-
-
-
-
1Loss-
VAMP3-
-
-
-
1Loss-
VAT1L-
-
-
-
1Loss-
VCL-
-
-
-
1Loss-
VENTX-
-
-
-
1Loss-
VEZT-
-
-
-
1Loss-
VGF-
-
-
-
3Gain-
VPS13B-
-
-
-
1LossMTDH--VPS13B
VPS26A-
-
-
-
1Loss-
VPS4A-
-
-
-
1Loss-
VPS50-
-
-
-
3Gain-
VPS9D1-
-
-
-
1Loss-
VSIR-
-
-
-
1Loss-
VSTM4-
-
-
-
1Loss-
VTI1A-
-
-
-
0Del-
VWA7-
-
-
-
1Loss-
VWDE-
-
-
-
3Gain-
WASHC2C-
-
-
-
1Loss-
WASL-
-
-
-
3Gain-
WDFY4-
-
-
-
1Loss-
WDR18-
-
-
-
1Loss-
WDR59-
-
-
-
1Loss-
WDR61-
-
-
-
1Loss-
WDR73-
-
-
-
1Loss-
WFDC1-
-
-
-
1Loss-
WHAMM-
-
-
-
1Loss-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WWOX-
-
-
-
1Loss-
WWP2-
-
-
-
1Loss-
XKR9-
-
-
-
1Loss-
XXYLT1-
-
-
-
1Loss-
YBEY-
-
-
-
0Del-
YWHAEP5-
-
-
-
NDNDYWHAEP5--AC138207.3
YY1-
-
-
-
1Loss-
Z82190.2-
-
-
-
1Loss-
ZAN-
-
-
-
3Gain-
ZBTB41-
-
-
-
3Gain-
ZBTB48-
-
-
-
1Loss-
ZBTB7C-
-
-
-
1Loss-
ZC3H15-
-
-
-
1Loss-
ZC3H18-
-
-
-
1Loss-
ZCCHC14-
-
-
-
1Loss-
ZCWPW1-
-
-
-
3Gain-
ZDHHC1-
-
-
-
1Loss-
ZDHHC19-
-
-
-
1Loss-
ZDHHC6-
-
-
-
0Del-
ZDHHC7-
-
-
-
1Loss-
ZFAND4-
-
-
-
1Loss-
ZFAND6-
-
-
-
1Loss-
ZFHX2-
-
-
-
1Loss-
ZFHX3-
-
-
-
1Loss-
ZFP1-
-
-
-
1Loss-
ZFP90-
-
-
-
1Loss-
ZFPM1-
-
-
-
1Loss-
ZGLP1-
-
-
-
3Gain-
ZKSCAN1-
-
-
-
3Gain-
ZKSCAN5-
-
-
-
3Gain-
ZNF19-
-
-
-
1Loss-
ZNF208p.S94Y
Missense
SNP
0.293
2--
ZNF22-
-
-
-
1Loss-
ZNF23-
-
-
-
1Loss-
ZNF239-
-
-
-
1Loss-
ZNF248-
-
-
-
1Loss-
ZNF25-
-
-
-
1Loss-
ZNF276-
-
-
-
1Loss-
ZNF277-
-
-
-
3Gain-
ZNF281-
-
-
-
3Gain-
ZNF3-
-
-
-
3Gain-
ZNF32-
-
-
-
1Loss-
ZNF33A-
-
-
-
1Loss-
ZNF33B-
-
-
-
1Loss-
ZNF347p.Q251*
Nonsense
SNP
0.443
2--
ZNF37A-
-
-
-
1Loss-
ZNF394-
-
-
-
3Gain-
ZNF451-
-
-
-
3Gain-
ZNF469-
-
-
-
1Loss-
ZNF485-
-
-
-
1Loss-
ZNF487-
-
-
-
1Loss-
ZNF488-
-
-
-
1Loss-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF592-
-
-
-
1Loss-
ZNF655-
-
-
-
3Gain-
ZNF678-
-
-
-
3Gain-
ZNF778-
-
-
-
1Loss-
ZNF789-
-
-
-
3Gain-
ZNF804B-
-
-
-
3Gain-
ZNF821-
-
-
-
1Loss-
ZNHIT1-
-
-
-
3Gain-
ZNRF1-
-
-
-
1Loss-
ZSCAN2-
-
-
-
1Loss-
ZSCAN21-
-
-
-
3Gain-
ZSCAN25-
-
-
-
3Gain-
ZSWIM8-
-
-
-
1Loss-
ZXDC-
-
-
-
1Loss-