PDMR-762968~020-R~YQ0W10-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A4GALT-
-
-
-
1Loss-
AARD-
-
-
-
5Amp-
AARS-
-
-
-
1Loss-
AASS-
-
-
-
3Gain-
ABAT-
-
-
-
1Loss-
ABCA13-
-
-
-
3Gain-
ABCA3-
-
-
-
1Loss-
ABCB1-
-
-
-
3Gain-
ABCB4-
-
-
-
3Gain-
ABCB5p.A601V
Missense
SNP
0.288
3Gain-
ABCB8-
-
-
-
3Gain-
ABCC1-
-
-
-
1Loss-
ABCC11-
-
-
-
1Loss-
ABCC12-
-
-
-
1Loss-
ABCC6-
-
-
-
1Loss-
ABCF2-
-
-
-
3Gain-
ABHD11-
-
-
-
3Gain-
ABRA-
-
-
-
5Amp-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC002310.4-
-
-
-
1Loss-
AC002310.5-
-
-
-
1Loss-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004754.1-
-
-
-
1Loss-
AC004832.3-
-
-
-
1Loss-
AC004922.1-
-
-
-
3Gain-
AC004997.1-
-
-
-
1Loss-
AC005020.2-
-
-
-
3Gain-
AC005154.5-
-
-
-
3Gain-
AC006978.2-
-
-
-
3Gain-
AC007326.4-
-
-
-
1Loss-
AC007731.5-
-
-
-
1Loss-
AC009086.2-
-
-
-
1Loss-
AC009119.2-
-
-
-
1Loss-
AC009133.6-
-
-
-
1Loss-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC009879.2-
-
-
-
5Amp-
AC009879.3-
-
-
-
5Amp-
AC010132.3-
-
-
-
3Gain-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC011005.1-
-
-
-
3Gain-
AC012184.2-
-
-
-
1Loss-
AC012213.5-
-
-
-
5Amp-
AC018554.3-
-
-
-
1Loss-
AC019117.2-
-
-
-
3Gain-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC022826.2-
-
-
-
5Amp-
AC025283.2-
-
-
-
1Loss-
AC025283.3-
-
-
-
1Loss-
AC025287.4-
-
-
-
1Loss-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC027644.4-
-
-
-
3Gain-
AC036214.3-
-
-
-
5Amp-
AC037459.1-
-
-
-
1Loss-
AC040162.1-
-
-
-
1Loss-
AC068533.4-
-
-
-
3Gain-
AC073111.3-
-
-
-
3Gain-
AC074143.1-
-
-
-
1Loss-
AC092143.1-
-
-
-
1Loss-
AC092647.5-
-
-
-
3Gain-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC093512.2-
-
-
-
1Loss-
AC093525.1-
-
-
-
1Loss-
AC093525.2-
-
-
-
1Loss-
AC093668.2-
-
-
-
3Gain-
AC093668.3-
-
-
-
3Gain-
AC099489.1-
-
-
-
1Loss-
AC100868.1-
-
-
-
5Amp-
AC104151.1-
-
-
-
1Loss-
AC105052.1-
-
-
-
3Gain-
AC106886.5-
-
-
-
1Loss-
AC107959.5-
-
-
-
1Loss-
AC110275.1-
-
-
-
1Loss-
AC115220.1-
-
-
-
3Gain-
AC120114.4-
-
-
-
1Loss-
AC135050.2-
-
-
-
1Loss-
AC136428.1-
-
-
-
1Loss-
AC138647.1-
-
-
-
5Amp-
AC138696.1-
-
-
-
5Amp-
AC138811.2-
-
-
-
1Loss-
AC138894.1-
-
-
-
1Loss-
AC140504.1-
-
-
-
1Loss-
AC144573.1-
-
-
-
1Loss-
AC187653.1-
-
-
-
3Gain-
AC253536.7-
-
-
-
1Loss-
ACD-
-
-
-
1Loss-
ACHE-
-
-
-
3Gain-
ACO2-
-
-
-
1Loss-
ACOT13-
-
-
-
1Loss-
ACPTp.X389_splice
Splice_Site
INS
0.312
NDND-
ACR-
-
-
-
1Loss-
ACSF3-
-
-
-
1Loss-
ACSM1-
-
-
-
1Loss-
ACSM2A-
-
-
-
1Loss-
ACSM2B-
-
-
-
1Loss-
ACSM3-
-
-
-
1Loss-
ACSM5-
-
-
-
1Loss-
ACTB-
-
-
-
3Gain-
ACTL6B-
-
-
-
3Gain-
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACVR1Bp.E3*
Nonsense
SNP
1.000
1Loss-
ACVRL1-
-
-
-
1Loss-
ADA2-
-
-
-
1Loss-
ADAD2-
-
-
-
1Loss-
ADAM18-
-
-
-
1Loss-
ADAM2-
-
-
-
1Loss-
ADAM22-
-
-
-
3Gain-
ADAM28-
-
-
-
1Loss-
ADAM32-
-
-
-
1Loss-
ADAM7-
-
-
-
1Loss-
ADAM9-
-
-
-
1Loss-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS18-
-
-
-
1Loss-
ADAP1-
-
-
-
3Gain-
ADAT1-
-
-
-
1Loss-
ADCK2-
-
-
-
3Gain-
ADCK5-
-
-
-
5Amp-
ADCY1-
-
-
-
3Gain-
ADCY7-
-
-
-
1Loss-
ADCY8-
-
-
-
5Amp-
ADCY9-
-
-
-
1Loss-
ADCYAP1R1-
-
-
-
3Gain-
ADD2p.G651R
Missense
SNP
0.514
2--
ADGRA2-
-
-
-
1Loss-
ADGRB1p.P165S
Missense
SNP
0.192
5Amp-
ADGRF4p.A67V
Missense
SNP
0.472
2--
ADGRG1-
-
-
-
1Loss-
ADGRG3-
-
-
-
1Loss-
ADGRG5-
-
-
-
1Loss-
ADHFE1-
-
-
-
5Amp-
ADM2-
-
-
-
1Loss-
ADORA2A-
-
-
-
1Loss-
ADRA1A-
-
-
-
1Loss-
ADRB3-
-
-
-
1Loss-
ADSL-
-
-
-
1Loss-
AEBP1-
-
-
-
3Gain-
AGAP3-
-
-
-
3Gain-
AGBL2-
-
-
-
1Loss-
AGBL3-
-
-
-
3Gain-
AGFG2-
-
-
-
3Gain-
AGK-
-
-
-
3Gain-
AGMO-
-
-
-
3Gain-
AGO2-
-
-
-
5Amp-
AGPAT5-
-
-
-
1Loss-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGRP-
-
-
-
1Loss-
AHCYL2-
-
-
-
3Gain-
AHR-
-
-
-
3Gain-
AHSP-
-
-
-
1Loss-
AIFM3-
-
-
-
1Loss-
AIMP2-
-
-
-
3Gain-
AKAP9p.E2347K
Missense
SNP
0.362
3Gain-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1D1-
-
-
-
3Gain-
AKTIP-
-
-
-
1Loss-
AL022238.4-
-
-
-
1Loss-
AL022318.4-
-
-
-
1Loss-
AL031708.1-
-
-
-
1Loss-
AL512428.1-
-
-
-
1Loss-
ALDOA-
-
-
-
1Loss-
ALG1-
-
-
-
1Loss-
ALG12-
-
-
-
1Loss-
ALKp.L123P
Missense
SNP
0.543
2--
ALKAL1-
-
-
-
5Amp-
ALKBH4-
-
-
-
3Gain-
AMDHD2-
-
-
-
1Loss-
AMFR-
-
-
-
1Loss-
AMPH-
-
-
-
3Gain-
AMZ1-
-
-
-
3Gain-
ANGPT1-
-
-
-
5Amp-
ANGPT2-
-
-
-
1Loss-
ANK1-
-
-
-
1Loss-
ANKIB1-
-
-
-
3Gain-
ANKMY2-
-
-
-
3Gain-
ANKRD11-
-
-
-
1Loss-
ANKRD46-
-
-
-
5Amp-
ANKRD54-
-
-
-
1Loss-
ANKRD61-
-
-
-
3Gain-
ANKRD7-
-
-
-
3Gain-
ANKS3-
-
-
-
1Loss-
ANKS4B-
-
-
-
1Loss-
ANLN-
-
-
-
3Gain-
ANXA13-
-
-
-
5Amp-
AOAH-
-
-
-
3Gain-
AOC1-
-
-
-
3Gain-
AP000350.4-
-
-
-
1Loss-
AP1B1-
-
-
-
1Loss-
AP1G1-
-
-
-
1Loss-
AP1S1-
-
-
-
3Gain-
AP3M2-
-
-
-
1Loss-
AP4M1-
-
-
-
3Gain-
AP5Z1-
-
-
-
3Gain-
APCp.P1361Lfs*55
p.R1450*
Frame_Shift_Ins
Nonsense
INS
SNP
0.305
0.360
2--
APOBEC3A-
-
-
-
1Loss-
APOBEC3B-
-
-
-
1Loss-
APOBEC3C-
-
-
-
1Loss-
APOBEC3D-
-
-
-
1Loss-
APOBEC3F-
-
-
-
1Loss-
APOBEC3G-
-
-
-
1Loss-
APOBEC3H-
-
-
-
1Loss-
APOBR-
-
-
-
1Loss-
APOL1-
-
-
-
1Loss-
APOL2-
-
-
-
1Loss-
APOL3-
-
-
-
1Loss-
APOL4-
-
-
-
1Loss-
APOL5-
-
-
-
1Loss-
APOL6-
-
-
-
1Loss-
APRT-
-
-
-
1Loss-
AQP1-
-
-
-
3Gain-
AQP2-
-
-
-
1Loss-
AQP5-
-
-
-
1Loss-
AQP6-
-
-
-
1Loss-
AQP8-
-
-
-
1Loss-
ARC-
-
-
-
5Amp-
ARF5-
-
-
-
3Gain-
ARFGAP3-
-
-
-
1Loss-
ARFGEF1-
-
-
-
5Amp-
ARG1p.A3T
Missense
SNP
0.493
2--
ARHGAP17-
-
-
-
1Loss-
ARHGAP39-
-
-
-
5Amp-
ARHGAP8-
-
-
-
1Loss-
ARHGDIG-
-
-
-
1Loss-
ARHGEF10-
-
-
-
1Loss-
ARHGEF5-
-
-
-
3Gain-
ARID2p.R53Kfs*13
Frame_Shift_Ins
INS
0.488
1Loss-
ARL2BP-
-
-
-
1Loss-
ARL4A-
-
-
-
3Gain-
ARL6IP1-
-
-
-
1Loss-
ARMC1-
-
-
-
5Amp-
ARMC10-
-
-
-
3Gain-
ARMC5-
-
-
-
1Loss-
ARMH2-
-
-
-
1Loss-
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ARSA-
-
-
-
1Loss-
ARVCF-
-
-
-
1Loss-
ASAH1-
-
-
-
1Loss-
ASAP1-
-
-
-
5Amp-
ASB10-
-
-
-
3Gain-
ASB15-
-
-
-
3Gain-
ASB4p.E244*
Nonsense
SNP
0.279
3Gain-
ASCC2-
-
-
-
1Loss-
ASH2L-
-
-
-
1Loss-
ASIC1-
-
-
-
1Loss-
ASIC3-
-
-
-
3Gain-
ASL-
-
-
-
3Gain-
ASNS-
-
-
-
3Gain-
ASPH-
-
-
-
5Amp-
ASPHD1-
-
-
-
1Loss-
ASPHD2-
-
-
-
1Loss-
ASZ1-
-
-
-
3Gain-
ATAD2-
-
-
-
5Amp-
ATF1-
-
-
-
1Loss-
ATF4-
-
-
-
1Loss-
ATF7IP2-
-
-
-
1Loss-
ATG101-
-
-
-
1Loss-
ATG9B-
-
-
-
3Gain-
ATMIN-
-
-
-
1Loss-
ATP2A1-
-
-
-
1Loss-
ATP2C2-
-
-
-
1Loss-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP5MGL-
-
-
-
1Loss-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0C-
-
-
-
1Loss-
ATP6V0D1-
-
-
-
1Loss-
ATP6V0D2-
-
-
-
5Amp-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1C1-
-
-
-
5Amp-
ATP6V1E1-
-
-
-
1Loss-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1H-
-
-
-
5Amp-
ATXN10-
-
-
-
1Loss-
ATXN1L-
-
-
-
1Loss-
ATXN2L-
-
-
-
1Loss-
ATXN7L1-
-
-
-
3Gain-
AUTS2-
-
-
-
3Gain-
AVL9-
-
-
-
3Gain-
AXIN1-
-
-
-
1Loss-
AZGP1-
-
-
-
3Gain-
AZIN1-
-
-
-
5Amp-
B3GNT9-
-
-
-
1Loss-
BAALC-
-
-
-
5Amp-
BAG4-
-
-
-
1Loss-
BAIAP2L1-
-
-
-
3Gain-
BAIAP2L2-
-
-
-
1Loss-
BAIAP3-
-
-
-
1Loss-
BANP-
-
-
-
1Loss-
BAZ1B-
-
-
-
3Gain-
BBS2-
-
-
-
1Loss-
BBS9-
-
-
-
3Gain-
BCAP29-
-
-
-
3Gain-
BCAR1-
-
-
-
1Loss-
BCDIN3D-
-
-
-
1Loss-
BCKDK-
-
-
-
1Loss-
BCL2L13-
-
-
-
1Loss-
BCL7B-
-
-
-
3Gain-
BCL7C-
-
-
-
1Loss-
BCO1-
-
-
-
1Loss-
BCORL1p.M644Cfs*4
Frame_Shift_Del
DEL
0.952
NDND-
BCR-
-
-
-
1Loss-
BEAN1-
-
-
-
1Loss-
BET1-
-
-
-
3Gain-
BFAR-
-
-
-
1Loss-
BHLHA15-
-
-
-
3Gain-
BHLHE22-
-
-
-
5Amp-
BICDL2-
-
-
-
1Loss-
BID-
-
-
-
1Loss-
BIK-
-
-
-
1Loss-
BIN2-
-
-
-
1Loss-
BIN3-
-
-
-
1Loss-
BLK-
-
-
-
1Loss-
BLVRA-
-
-
-
3Gain-
BMP1-
-
-
-
1Loss-
BMPER-
-
-
-
3Gain-
BMT2-
-
-
-
3Gain-
BNIP3L-
-
-
-
1Loss-
BOLA2-
-
-
-
1Loss-
BOLA2-SMG1P6-
-
-
-
1Loss-
BOLA2B-
-
-
-
1Loss-
BOP1-
-
-
-
5Amp-
BPGM-
-
-
-
3Gain-
BPIFC-
-
-
-
1Loss-
BRAFp.D594N
Missense
SNP
0.800
3Gain-
BRAT1-
-
-
-
3Gain-
BRD1-
-
-
-
1Loss-
BRD7-
-
-
-
1Loss-
BRF2-
-
-
-
1Loss-
BRI3-
-
-
-
3Gain-
BRICD5-
-
-
-
1Loss-
BTBD11p.S882I
Missense
SNP
0.500
2--
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
3Gain-
BZW2-
-
-
-
3Gain-
C16orf45-
-
-
-
1Loss-
C16orf46-
-
-
-
1Loss-
C16orf54-
-
-
-
1Loss-
C16orf58-
-
-
-
1Loss-
C16orf70-
-
-
-
1Loss-
C16orf71-
-
-
-
1Loss-
C16orf72-
-
-
-
1Loss-
C16orf74-
-
-
-
1Loss-
C16orf78-
-
-
-
1Loss-
C16orf86-
-
-
-
1Loss-
C16orf87-
-
-
-
1Loss-
C16orf89-
-
-
-
1Loss-
C16orf90-
-
-
-
1Loss-
C16orf91-
-
-
-
1Loss-
C16orf92-
-
-
-
1Loss-
C16orf95-
-
-
-
1Loss-
C16orf96-
-
-
-
1Loss-
C1GALT1-
-
-
-
3Gain-
C1QTNF4-
-
-
-
1Loss-
C1QTNF6-
-
-
-
1Loss-
C1QTNF8-
-
-
-
1Loss-
C22orf15-
-
-
-
1Loss-
C22orf23-
-
-
-
1Loss-
C22orf31-
-
-
-
1Loss-
C22orf39-
-
-
-
1Loss-
C22orf42-
-
-
-
1Loss-
C22orf46-
-
-
-
1Loss-
C2CD4Cp.A68V
Missense
SNP
0.467
2--
C6orf62-
-
-
-
1Loss-
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf33-
-
-
-
3Gain-
C7orf43-
-
-
-
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C7orf61-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8orf33-
-
-
-
5Amp-
C8orf34-
-
-
-
5Amp-
C8orf37-
-
-
-
5Amp-
C8orf44-
-
-
-
5Amp-
C8orf48-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
C8orf59-
-
-
-
5Amp-
C8orf74-
-
-
-
1Loss-
C8orf76-
-
-
-
5Amp-
C8orf82-
-
-
-
5Amp-
C8orf86-
-
-
-
1Loss-
C8orf88-
-
-
-
5Amp-
C8orf89-
-
-
-
5Amp-
CA1-
-
-
-
5Amp-
CA13-
-
-
-
5Amp-
CA2-
-
-
-
5Amp-
CA3-
-
-
-
5Amp-
CA5A-
-
-
-
1Loss-
CA7-
-
-
-
1Loss-
CA8-
-
-
-
5Amp-
CABIN1-
-
-
-
1Loss-
CABP7-
-
-
-
1Loss-
CACNA1H-
-
-
-
1Loss-
CACNA1I-
-
-
-
1Loss-
CACNA2D1-
-
-
-
3Gain-
CACNG2-
-
-
-
1Loss-
CACNG3-
-
-
-
1Loss-
CADPS2-
-
-
-
3Gain-
CALB1-
-
-
-
5Amp-
CALB2-
-
-
-
1Loss-
CALCR-
-
-
-
3Gain-
CALD1-
-
-
-
3Gain-
CALN1-
-
-
-
3Gain-
CALU-
-
-
-
3Gain-
CAMK2B-
-
-
-
3Gain-
CAND1-
-
-
-
1Loss-
CAPN15-
-
-
-
1Loss-
CAPNS2-
-
-
-
1Loss-
CAPZA2-
-
-
-
3Gain-
CARD10-
-
-
-
1Loss-
CARD11-
-
-
-
3Gain-
CARHSP1-
-
-
-
1Loss-
CARMIL1-
-
-
-
1Loss-
CARMIL2-
-
-
-
1Loss-
CASD1-
-
-
-
3Gain-
CASKIN1-
-
-
-
1Loss-
CASP2-
-
-
-
3Gain-
CASTOR1-
-
-
-
1Loss-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CBFA2T3-
-
-
-
1Loss-
CBFB-
-
-
-
1Loss-
CBLL1-
-
-
-
3Gain-
CBLN1-
-
-
-
1Loss-
CBX3-
-
-
-
3Gain-
CBX6-
-
-
-
1Loss-
CBX7-
-
-
-
1Loss-
CBY1-
-
-
-
1Loss-
CCAR2-
-
-
-
1Loss-
CCDC102A-
-
-
-
1Loss-
CCDC113-
-
-
-
1Loss-
CCDC116-
-
-
-
1Loss-
CCDC117-
-
-
-
1Loss-
CCDC126-
-
-
-
3Gain-
CCDC134-
-
-
-
1Loss-
CCDC136-
-
-
-
3Gain-
CCDC146-
-
-
-
3Gain-
CCDC154-
-
-
-
1Loss-
CCDC157-
-
-
-
1Loss-
CCDC166-
-
-
-
5Amp-
CCDC188-
-
-
-
1Loss-
CCDC189-
-
-
-
1Loss-
CCDC25-
-
-
-
1Loss-
CCDC71L-
-
-
-
3Gain-
CCDC78-
-
-
-
1Loss-
CCL17-
-
-
-
1Loss-
CCL22-
-
-
-
1Loss-
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCM2-
-
-
-
3Gain-
CCNE2-
-
-
-
5Amp-
CCNF-
-
-
-
1Loss-
CCNT1-
-
-
-
1Loss-
CCP110-
-
-
-
1Loss-
CCT6A-
-
-
-
3Gain-
CCT8L2-
-
-
-
1Loss-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD180p.R561H
Missense
SNP
0.547
2--
CD19-
-
-
-
1Loss-
CD2BP2-
-
-
-
1Loss-
CD36-
-
-
-
3Gain-
CDC14C-
-
-
-
3Gain-
CDC42EP1-
-
-
-
1Loss-
CDC45-
-
-
-
1Loss-
CDCA2-
-
-
-
1Loss-
CDCA7L-
-
-
-
3Gain-
CDH1-
-
-
-
1Loss-
CDH11-
-
-
-
1Loss-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16-
-
-
-
1Loss-
CDH17-
-
-
-
5Amp-
CDH3-
-
-
-
1Loss-
CDH5-
-
-
-
1Loss-
CDH8-
-
-
-
1Loss-
CDHR3-
-
-
-
3Gain-
CDIP1-
-
-
-
1Loss-
CDIPT-
-
-
-
1Loss-
CDK10-
-
-
-
1Loss-
CDK12p.K373Rfs*63
Frame_Shift_Del
DEL
0.500
2--
CDK13-
-
-
-
3Gain-
CDK14-
-
-
-
3Gain-
CDK5-
-
-
-
3Gain-
CDK6-
-
-
-
3Gain-
CDPF1-
-
-
-
1Loss-
CDR2-
-
-
-
1Loss-
CDT1-
-
-
-
1Loss-
CDYL2-
-
-
-
1Loss-
CEBPD-
-
-
-
5Amp-
CECR2-
-
-
-
1Loss-
CELA1-
-
-
-
1Loss-
CELF1-
-
-
-
1Loss-
CELSR1-
-
-
-
1Loss-
CEMP1-
-
-
-
1Loss-
CENPBD1-
-
-
-
1Loss-
CENPM-
-
-
-
1Loss-
CENPN-
-
-
-
1Loss-
CENPT-
-
-
-
1Loss-
CEP41-
-
-
-
3Gain-
CERK-
-
-
-
1Loss-
CERS5-
-
-
-
1Loss-
CES1-
-
-
-
1Loss-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CES5A-
-
-
-
1Loss-
CETP-
-
-
-
1Loss-
CFAP20-
-
-
-
1Loss-
CFAP69-
-
-
-
3Gain-
CFDP1-
-
-
-
1Loss-
CFTR-
-
-
-
3Gain-
CHADL-
-
-
-
1Loss-
CHCHD10-
-
-
-
1Loss-
CHCHD2-
-
-
-
3Gain-
CHCHD3-
-
-
-
3Gain-
CHCHD7-
-
-
-
5Amp-
CHD7-
-
-
-
5Amp-
CHD9-
-
-
-
1Loss-
CHEK2-
-
-
-
1Loss-
CHKB-
-
-
-
1Loss-
CHKB-CPT1B-
-
-
-
1Loss-
CHMP1A-
-
-
-
1Loss-
CHMP4C-
-
-
-
5Amp-
CHMP7-
-
-
-
1Loss-
CHN2-
-
-
-
3Gain-
CHP2-
-
-
-
1Loss-
CHPF2-
-
-
-
3Gain-
CHRAC1-
-
-
-
5Amp-
CHRM2-
-
-
-
3Gain-
CHRNA2-
-
-
-
1Loss-
CHRNA6-
-
-
-
1Loss-
CHRNB3-
-
-
-
1Loss-
CHST12-
-
-
-
3Gain-
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHTF18-
-
-
-
1Loss-
CHTF8-
-
-
-
1Loss-
CIAO2B-
-
-
-
1Loss-
CIAO3-
-
-
-
1Loss-
CIAPIN1-
-
-
-
1Loss-
CIITA-
-
-
-
1Loss-
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CLCN1-
-
-
-
3Gain-
CLCN7-
-
-
-
1Loss-
CLDN12-
-
-
-
3Gain-
CLDN15-
-
-
-
3Gain-
CLDN23-
-
-
-
1Loss-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLDN5-
-
-
-
1Loss-
CLDN6-
-
-
-
1Loss-
CLDN9-
-
-
-
1Loss-
CLEC16A-
-
-
-
1Loss-
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC19A-
-
-
-
1Loss-
CLEC2L-
-
-
-
3Gain-
CLEC3A-
-
-
-
1Loss-
CLEC5A-
-
-
-
3Gain-
CLIP2p.G1032D
Missense
SNP
0.051
3Gain-
CLIP3p.R379Q
Missense
SNP
0.459
2--
CLN3-
-
-
-
1Loss-
CLN8-
-
-
-
1Loss-
CLTCL1-
-
-
-
1Loss-
CLU-
-
-
-
1Loss-
CLUAP1-
-
-
-
1Loss-
CLVS1-
-
-
-
5Amp-
CMC2-
-
-
-
1Loss-
CMIP-
-
-
-
1Loss-
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTR2-
-
-
-
1Loss-
CNBD1-
-
-
-
5Amp-
CNEP1R1-
-
-
-
1Loss-
CNGB1-
-
-
-
1Loss-
CNGB3-
-
-
-
5Amp-
CNOT1-
-
-
-
1Loss-
CNOT4-
-
-
-
3Gain-
CNOT7-
-
-
-
1Loss-
CNPY1-
-
-
-
3Gain-
CNPY4-
-
-
-
3Gain-
CNTNAP2-
-
-
-
3Gain-
CNTNAP4-
-
-
-
1Loss-
COA1-
-
-
-
3Gain-
COBL-
-
-
-
3Gain-
COG4-
-
-
-
1Loss-
COG5-
-
-
-
3Gain-
COG7-
-
-
-
1Loss-
COG8-
-
-
-
1Loss-
COL14A1-
-
-
-
5Amp-
COL1A2-
-
-
-
3Gain-
COL22A1-
-
-
-
5Amp-
COL26A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COLEC10-
-
-
-
5Amp-
COMMD5-
-
-
-
5Amp-
COMT-
-
-
-
1Loss-
COPG2-
-
-
-
3Gain-
COPS5-
-
-
-
5Amp-
COPS6-
-
-
-
3Gain-
COQ7-
-
-
-
1Loss-
COQ9-
-
-
-
1Loss-
CORO1A-
-
-
-
1Loss-
CORO7-
-
-
-
1Loss-
CORO7-PAM16-
-
-
-
1Loss-
COTL1-
-
-
-
1Loss-
COX14-
-
-
-
1Loss-
COX19-
-
-
-
3Gain-
COX4I1-
-
-
-
1Loss-
COX6A2-
-
-
-
1Loss-
COX6C-
-
-
-
5Amp-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPA6-
-
-
-
5Amp-
CPED1-
-
-
-
3Gain-
CPNE2-
-
-
-
1Loss-
CPNE3-
-
-
-
5Amp-
CPNE7-
-
-
-
1Loss-
CPPED1-
-
-
-
1Loss-
CPQ-
-
-
-
5Amp-
CPSF1-
-
-
-
5Amp-
CPSF4-
-
-
-
3Gain-
CPT1B-
-
-
-
1Loss-
CPVL-
-
-
-
3Gain-
CRAMP1-
-
-
-
1Loss-
CRCP-
-
-
-
3Gain-
CREB3L2-
-
-
-
3Gain-
CREB5-
-
-
-
3Gain-
CREBBP-
-
-
-
1Loss-
CRELD2-
-
-
-
1Loss-
CRH-
-
-
-
5Amp-
CRHR2-
-
-
-
3Gain-
CRISPLD1-
-
-
-
5Amp-
CRISPLD2-
-
-
-
1Loss-
CRKL-
-
-
-
1Loss-
CRNN-
-
-
-
3Gain-
CROT-
-
-
-
3Gain-
CRYBA4-
-
-
-
1Loss-
CRYBB1-
-
-
-
1Loss-
CRYBB2-
-
-
-
1Loss-
CRYBB3-
-
-
-
1Loss-
CRYGN-
-
-
-
3Gain-
CRYM-
-
-
-
1Loss-
CSDC2-
-
-
-
1Loss-
CSF2RB-
-
-
-
1Loss-
CSGALNACT1-
-
-
-
1Loss-
CSMD1-
-
-
-
1Loss-
CSMD3-
-
-
-
5Amp-
CSNK1E-
-
-
-
1Loss-
CSNK2A2-
-
-
-
1Loss-
CSPP1-
-
-
-
5Amp-
CSRNP2-
-
-
-
1Loss-
CTAGE15-
-
-
-
3Gain-
CTAGE4-
-
-
-
3Gain-
CTAGE6-
-
-
-
3Gain-
CTAGE8-
-
-
-
3Gain-
CTCF-
-
-
-
1Loss-
CTF1-
-
-
-
1Loss-
CTHRC1-
-
-
-
5Amp-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRL-
-
-
-
1Loss-
CTSB-
-
-
-
1Loss-
CTTNBP2-
-
-
-
3Gain-
CTU2-
-
-
-
1Loss-
CUL1-
-
-
-
3Gain-
CUX1-
-
-
-
3Gain-
CX3CL1-
-
-
-
1Loss-
CYB5B-
-
-
-
1Loss-
CYB5R3-
-
-
-
1Loss-
CYBA-
-
-
-
1Loss-
CYC1-
-
-
-
5Amp-
CYCS-
-
-
-
3Gain-
CYHR1-
-
-
-
5Amp-
CYLD-
-
-
-
1Loss-
CYP11B1-
-
-
-
5Amp-
CYP11B2-
-
-
-
5Amp-
CYP2D6-
-
-
-
1Loss-
CYP2D7-
-
-
-
1Loss-
CYP2W1-
-
-
-
3Gain-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5-
-
-
-
3Gain-
CYP3A7-
-
-
-
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP51A1-
-
-
-
3Gain-
CYP7A1-
-
-
-
5Amp-
CYP7B1-
-
-
-
5Amp-
CYREN-
-
-
-
3Gain-
CYTH3-
-
-
-
3Gain-
CYTH4-
-
-
-
1Loss-
DAGLB-
-
-
-
3Gain-
DAZAP2-
-
-
-
1Loss-
DBF4-
-
-
-
3Gain-
DBNDD1-
-
-
-
1Loss-
DBNL-
-
-
-
3Gain-
DCAF13-
-
-
-
5Amp-
DCAF4L2-
-
-
-
5Amp-
DCHS1p.V420I
Missense
SNP
0.489
2--
DCSTAMP-
-
-
-
5Amp-
DCTN5-
-
-
-
1Loss-
DCTN6-
-
-
-
1Loss-
DCTPP1-
-
-
-
1Loss-
DCUN1D3-
-
-
-
1Loss-
DDC-
-
-
-
3Gain-
DDHD2-
-
-
-
1Loss-
DDT-
-
-
-
1Loss-
DDTL-
-
-
-
1Loss-
DDX17-
-
-
-
1Loss-
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX28-
-
-
-
1Loss-
DDX56-
-
-
-
3Gain-
DECR1-
-
-
-
5Amp-
DECR2-
-
-
-
1Loss-
DEF8-
-
-
-
1Loss-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DENND2A-
-
-
-
3Gain-
DENND3-
-
-
-
5Amp-
DENND6B-
-
-
-
1Loss-
DEPDC5-
-
-
-
1Loss-
DEPTOR-
-
-
-
5Amp-
DERL1-
-
-
-
5Amp-
DERL3-
-
-
-
1Loss-
DESI1-
-
-
-
1Loss-
DGAT1-
-
-
-
5Amp-
DGCR2-
-
-
-
1Loss-
DGCR6-
-
-
-
1Loss-
DGCR6L-
-
-
-
1Loss-
DGCR8-
-
-
-
1Loss-
DGKB-
-
-
-
3Gain-
DGKI-
-
-
-
3Gain-
DHODH-
-
-
-
1Loss-
DHX36p.P608R
Missense
SNP
0.611
2--
DHX38-
-
-
-
1Loss-
DIP2B-
-
-
-
1Loss-
DKK4-
-
-
-
1Loss-
DLC1-
-
-
-
1Loss-
DLD-
-
-
-
3Gain-
DLGAP2-
-
-
-
1Loss-
DLX5-
-
-
-
3Gain-
DLX6-
-
-
-
3Gain-
DMC1-
-
-
-
1Loss-
DMTF1-
-
-
-
3Gain-
DMTN-
-
-
-
1Loss-
DNAAF1-
-
-
-
1Loss-
DNAAF5-
-
-
-
3Gain-
DNAH11-
-
-
-
3Gain-
DNAH3-
-
-
-
1Loss-
DNAJA2-
-
-
-
1Loss-
DNAJA3-
-
-
-
1Loss-
DNAJB6-
-
-
-
3Gain-
DNAJB7-
-
-
-
1Loss-
DNAJB9-
-
-
-
3Gain-
DNAJC2-
-
-
-
3Gain-
DNAJC30-
-
-
-
3Gain-
DNAJC5B-
-
-
-
5Amp-
DNAL4-
-
-
-
1Loss-
DNASE1-
-
-
-
1Loss-
DNASE1L2-
-
-
-
1Loss-
DOC2A-
-
-
-
1Loss-
DOCK4-
-
-
-
3Gain-
DOCK5-
-
-
-
1Loss-
DOK2-
-
-
-
1Loss-
DOK4-
-
-
-
1Loss-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DPP6-
-
-
-
3Gain-
DPY19L1-
-
-
-
3Gain-
DPY19L4-
-
-
-
5Amp-
DPYS-
-
-
-
5Amp-
DPYSL2-
-
-
-
1Loss-
DRC7-
-
-
-
1Loss-
DRG1-
-
-
-
1Loss-
DRICH1-
-
-
-
1Loss-
DSCC1-
-
-
-
5Amp-
DTX2-
-
-
-
3Gain-
DUS2-
-
-
-
1Loss-
DUS4L-
-
-
-
3Gain-
DUSP18-
-
-
-
1Loss-
DUSP26-
-
-
-
1Loss-
DUSP4-
-
-
-
1Loss-
DUXB-
-
-
-
1Loss-
DYNC1I1-
-
-
-
3Gain-
DYNC1LI2-
-
-
-
1Loss-
DYNLRB2-
-
-
-
1Loss-
DYRK2-
-
-
-
1Loss-
E2F4-
-
-
-
1Loss-
E2F5-
-
-
-
5Amp-
E4F1-
-
-
-
1Loss-
EARS2-
-
-
-
1Loss-
EBAG9-
-
-
-
5Amp-
EBF2-
-
-
-
1Loss-
ECI1-
-
-
-
1Loss-
EDC4-
-
-
-
1Loss-
EEF1D-
-
-
-
5Amp-
EEF2K-
-
-
-
1Loss-
EEPD1-
-
-
-
3Gain-
EFCAB1-
-
-
-
5Amp-
EFCAB10-
-
-
-
3Gain-
EFCAB6-
-
-
-
1Loss-
EFR3A-
-
-
-
5Amp-
EGFR-
-
-
-
3Gain-
EGR3-
-
-
-
1Loss-
EIF2AK1-
-
-
-
3Gain-
EIF3B-
-
-
-
3Gain-
EIF3C-
-
-
-
1Loss-
EIF3CL-
-
-
-
1Loss-
EIF3D-
-
-
-
1Loss-
EIF3E-
-
-
-
5Amp-
EIF3H-
-
-
-
5Amp-
EIF3L-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
1Loss-
EIF4ENIF1-
-
-
-
1Loss-
EIF4H-
-
-
-
3Gain-
ELFN1-
-
-
-
3Gain-
ELFN2-
-
-
-
1Loss-
ELMO1-
-
-
-
3Gain-
ELMO3-
-
-
-
1Loss-
ELN-
-
-
-
3Gain-
ELOB-
-
-
-
1Loss-
ELOC-
-
-
-
5Amp-
ELP3-
-
-
-
1Loss-
EMC2-
-
-
-
5Amp-
EMC8-
-
-
-
1Loss-
EME2-
-
-
-
1Loss-
EMID1-
-
-
-
1Loss-
EMP2-
-
-
-
1Loss-
EN2-
-
-
-
3Gain-
ENKD1-
-
-
-
1Loss-
ENPP2-
-
-
-
5Amp-
ENTHD1-
-
-
-
1Loss-
ENTPD4-
-
-
-
1Loss-
ENY2-
-
-
-
5Amp-
EP300-
-
-
-
1Loss-
EPDR1-
-
-
-
3Gain-
EPHA1-
-
-
-
3Gain-
EPHA4p.P215S
Missense
SNP
0.524
2--
EPHA6p.L354P
Missense
SNP
0.385
2--
EPHB4-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPHX2-
-
-
-
1Loss-
EPO-
-
-
-
3Gain-
EPPK1-
-
-
-
5Amp-
ERCC4-
-
-
-
1Loss-
ERI1-
-
-
-
1Loss-
ERI2-
-
-
-
1Loss-
ERICH1-
-
-
-
1Loss-
ERICH5-
-
-
-
5Amp-
ERLIN2-
-
-
-
1Loss-
ERN2-
-
-
-
1Loss-
ERV3-1-
-
-
-
3Gain-
ESCO2-
-
-
-
1Loss-
ESRP1-
-
-
-
5Amp-
ESRP2-
-
-
-
1Loss-
ESS2-
-
-
-
1Loss-
ESYT2-
-
-
-
3Gain-
ETV1-
-
-
-
3Gain-
EVX1-
-
-
-
3Gain-
EWSR1-
-
-
-
1Loss-
EXOC3L1-
-
-
-
1Loss-
EXOC4-
-
-
-
3Gain-
EXOSC4-
-
-
-
5Amp-
EXOSC6-
-
-
-
1Loss-
EXT1-
-
-
-
5Amp-
EXTL3-
-
-
-
1Loss-
EYA1-
-
-
-
5Amp-
EZH2-
-
-
-
3Gain-
FA2H-
-
-
-
1Loss-
FABP12-
-
-
-
5Amp-
FABP4-
-
-
-
5Amp-
FABP5-
-
-
-
5Amp-
FABP9-
-
-
-
5Amp-
FAHD1-
-
-
-
1Loss-
FAIM2-
-
-
-
1Loss-
FAM110B-
-
-
-
5Amp-
FAM118A-
-
-
-
1Loss-
FAM126A-
-
-
-
3Gain-
FAM129Ap.E11K
Missense
SNP
0.419
2--
FAM131B-
-
-
-
3Gain-
FAM133B-
-
-
-
3Gain-
FAM135B-
-
-
-
5Amp-
FAM160B2-
-
-
-
1Loss-
FAM167A-
-
-
-
1Loss-
FAM173A-
-
-
-
1Loss-
FAM180A-
-
-
-
3Gain-
FAM180B-
-
-
-
1Loss-
FAM185A-
-
-
-
3Gain-
FAM186A-
-
-
-
1Loss-
FAM192A-
-
-
-
1Loss-
FAM19A5-
-
-
-
1Loss-
FAM200A-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM227A-
-
-
-
1Loss-
FAM234A-
-
-
-
1Loss-
FAM3C-
-
-
-
3Gain-
FAM49B-
-
-
-
5Amp-
FAM57B-
-
-
-
1Loss-
FAM71Cp.R30Q
Missense
SNP
0.397
2--
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM83A-
-
-
-
5Amp-
FAM83F-
-
-
-
1Loss-
FAM83H-
-
-
-
5Amp-
FAM84B-
-
-
-
5Amp-
FAM86B1-
-
-
-
1Loss-
FAM91A1-
-
-
-
5Amp-
FAM92A-
-
-
-
5Amp-
FAM92B-
-
-
-
1Loss-
FANCA-
-
-
-
1Loss-
FASTK-
-
-
-
3Gain-
FAT1p.A2256T
Missense
SNP
0.508
2--
FBLN1-
-
-
-
1Loss-
FBRS-
-
-
-
1Loss-
FBXL13-
-
-
-
3Gain-
FBXL16-
-
-
-
1Loss-
FBXL18-
-
-
-
3Gain-
FBXL19-
-
-
-
1Loss-
FBXL6-
-
-
-
5Amp-
FBXL8-
-
-
-
1Loss-
FBXO16-
-
-
-
1Loss-
FBXO24-
-
-
-
3Gain-
FBXO25-
-
-
-
1Loss-
FBXO31-
-
-
-
1Loss-
FBXO32-
-
-
-
5Amp-
FBXO41p.E497Q
Missense
SNP
0.533
2--
FBXO43-
-
-
-
5Amp-
FBXO7-
-
-
-
1Loss-
FDFT1-
-
-
-
1Loss-
FER1L6-
-
-
-
5Amp-
FERD3L-
-
-
-
3Gain-
FEZF1-
-
-
-
3Gain-
FGF17-
-
-
-
1Loss-
FGF20-
-
-
-
1Loss-
FGFR1-
-
-
-
1Loss-
FGL1-
-
-
-
1Loss-
FGL2-
-
-
-
3Gain-
FHOD1-
-
-
-
1Loss-
FIGNL1-
-
-
-
3Gain-
FIS1-
-
-
-
3Gain-
FKBP14-
-
-
-
3Gain-
FKBP6-
-
-
-
3Gain-
FKBP9-
-
-
-
3Gain-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLNC-
-
-
-
3Gain-
FLYWCH1-
-
-
-
1Loss-
FLYWCH2-
-
-
-
1Loss-
FMC1-
-
-
-
3Gain-
FNBP4-
-
-
-
1Loss-
FNTA-
-
-
-
1Loss-
FOPNL-
-
-
-
1Loss-
FOXC2-
-
-
-
1Loss-
FOXF1-
-
-
-
1Loss-
FOXH1-
-
-
-
5Amp-
FOXK1-
-
-
-
3Gain-
FOXL1-
-
-
-
1Loss-
FOXP2-
-
-
-
3Gain-
FOXRED2-
-
-
-
1Loss-
FREM3p.R136C
Missense
SNP
0.458
2--
FSBP-
-
-
-
5Amp-
FSCN1-
-
-
-
3Gain-
FSCN3-
-
-
-
3Gain-
FTO-
-
-
-
1Loss-
FUK-
-
-
-
1Loss-
FUS-
-
-
-
1Loss-
FUT10-
-
-
-
1Loss-
FZD1-
-
-
-
3Gain-
FZD3-
-
-
-
1Loss-
FZD6-
-
-
-
5Amp-
FZD9-
-
-
-
3Gain-
GAB4-
-
-
-
1Loss-
GABARAPL2-
-
-
-
1Loss-
GABRG1p.R166H
Missense
SNP
0.449
2--
GAL3ST1-
-
-
-
1Loss-
GAL3ST4-
-
-
-
3Gain-
GALNS-
-
-
-
1Loss-
GALNT11-
-
-
-
3Gain-
GALNT17-
-
-
-
3Gain-
GALNT6-
-
-
-
1Loss-
GALNTL5-
-
-
-
3Gain-
GALR3-
-
-
-
1Loss-
GAN-
-
-
-
1Loss-
GARS-
-
-
-
3Gain-
GAS2L1-
-
-
-
1Loss-
GAS8-
-
-
-
1Loss-
GATA4-
-
-
-
1Loss-
GATAD1-
-
-
-
3Gain-
GBX1-
-
-
-
3Gain-
GCAT-
-
-
-
1Loss-
GCC1-
-
-
-
3Gain-
GCK-
-
-
-
3Gain-
GCM2p.R110W
Missense
SNP
0.410
2--
GCSH-
-
-
-
1Loss-
GDAP1-
-
-
-
5Amp-
GDE1-
-
-
-
1Loss-
GDF6-
-
-
-
5Amp-
GDPD3-
-
-
-
1Loss-
GEM-
-
-
-
5Amp-
GET4-
-
-
-
3Gain-
GFER-
-
-
-
1Loss-
GFOD2-
-
-
-
1Loss-
GFRA2-
-
-
-
1Loss-
GGA1-
-
-
-
1Loss-
GGA2-
-
-
-
1Loss-
GGCT-
-
-
-
3Gain-
GGH-
-
-
-
5Amp-
GGT1-
-
-
-
1Loss-
GGT2-
-
-
-
1Loss-
GGT5-
-
-
-
1Loss-
GGTLC2-
-
-
-
1Loss-
GHRHR-
-
-
-
3Gain-
GIGYF1-
-
-
-
3Gain-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4-
-
-
-
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6-
-
-
-
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GINS2-
-
-
-
1Loss-
GINS3-
-
-
-
1Loss-
GINS4-
-
-
-
1Loss-
GJC3-
-
-
-
3Gain-
GLCCI1-
-
-
-
3Gain-
GLG1-
-
-
-
1Loss-
GLI3-
-
-
-
3Gain-
GLI4-
-
-
-
5Amp-
GLIS2-
-
-
-
1Loss-
GLT1D1p.M182I
Missense
SNP
0.592
2--
GLYR1-
-
-
-
1Loss-
GML-
-
-
-
5Amp-
GMNN-
-
-
-
1Loss-
GNA12-
-
-
-
3Gain-
GNAI1-
-
-
-
3Gain-
GNAO1-
-
-
-
1Loss-
GNAT3-
-
-
-
3Gain-
GNAZ-
-
-
-
1Loss-
GNB1L-
-
-
-
1Loss-
GNB2-
-
-
-
3Gain-
GNG11-
-
-
-
3Gain-
GNG13-
-
-
-
1Loss-
GNGT1-
-
-
-
3Gain-
GNPTG-
-
-
-
1Loss-
GNRH1-
-
-
-
1Loss-
GOLGA7-
-
-
-
1Loss-
GOT1L1-
-
-
-
1Loss-
GOT2-
-
-
-
1Loss-
GP1BB-
-
-
-
1Loss-
GP2-
-
-
-
1Loss-
GP5p.V64I
Missense
SNP
0.459
2--
GPAA1-
-
-
-
5Amp-
GPAT4-
-
-
-
1Loss-
GPC2-
-
-
-
3Gain-
GPD1-
-
-
-
1Loss-
GPER1-
-
-
-
3Gain-
GPIHBP1-
-
-
-
5Amp-
GPNMB-
-
-
-
3Gain-
GPR139-
-
-
-
1Loss-
GPR141-
-
-
-
3Gain-
GPR146-
-
-
-
3Gain-
GPR20-
-
-
-
5Amp-
GPR22-
-
-
-
3Gain-
GPR37-
-
-
-
3Gain-
GPR85-
-
-
-
3Gain-
GPRC5B-
-
-
-
1Loss-
GPT-
-
-
-
5Amp-
GPT2-
-
-
-
1Loss-
GRAMD4-
-
-
-
1Loss-
GRAP2-
-
-
-
1Loss-
GRASP-
-
-
-
1Loss-
GRB10-
-
-
-
3Gain-
GRHL2-
-
-
-
5Amp-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIN2A-
-
-
-
1Loss-
GRINA-
-
-
-
5Amp-
GRK3-
-
-
-
1Loss-
GRM3-
-
-
-
3Gain-
GRM8-
-
-
-
3Gain-
GSAP-
-
-
-
3Gain-
GSC2-
-
-
-
1Loss-
GSDMC-
-
-
-
5Amp-
GSDMD-
-
-
-
5Amp-
GSDME-
-
-
-
3Gain-
GSE1-
-
-
-
1Loss-
GSG1L-
-
-
-
1Loss-
GSPT1-
-
-
-
1Loss-
GSR-
-
-
-
1Loss-
GSTK1-
-
-
-
3Gain-
GSTT2-
-
-
-
1Loss-
GSTT2B-
-
-
-
1Loss-
GSTT4-
-
-
-
1Loss-
GTF2E2-
-
-
-
1Loss-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTF3C1-
-
-
-
1Loss-
GTPBP1-
-
-
-
1Loss-
GTPBP10-
-
-
-
3Gain-
GTSE1-
-
-
-
1Loss-
GUCD1-
-
-
-
1Loss-
GUSB-
-
-
-
3Gain-
H1F0-
-
-
-
1Loss-
H2AFV-
-
-
-
3Gain-
HAGH-
-
-
-
1Loss-
HAGHL-
-
-
-
1Loss-
HAS2-
-
-
-
5Amp-
HAS3-
-
-
-
1Loss-
HBA1-
-
-
-
1Loss-
HBA2-
-
-
-
1Loss-
HBM-
-
-
-
1Loss-
HBP1-
-
-
-
3Gain-
HBQ1-
-
-
-
1Loss-
HBZ-
-
-
-
1Loss-
HCFC1R1-
-
-
-
1Loss-
HDAC10-
-
-
-
1Loss-
HDAC9-
-
-
-
3Gain-
HDHD5-
-
-
-
1Loss-
HEATR3-
-
-
-
1Loss-
HECW1-
-
-
-
3Gain-
HEG1p.N432I
Missense
SNP
0.512
2--
HEPACAM2-
-
-
-
3Gain-
HERPUD1-
-
-
-
1Loss-
HERPUD2-
-
-
-
3Gain-
HEY1-
-
-
-
5Amp-
HGF-
-
-
-
3Gain-
HGH1-
-
-
-
5Amp-
HGSNAT-
-
-
-
1Loss-
HHLA1-
-
-
-
5Amp-
HIBADH-
-
-
-
3Gain-
HIC2-
-
-
-
1Loss-
HIGD1C-
-
-
-
1Loss-
HILPDA-
-
-
-
3Gain-
HIP1-
-
-
-
3Gain-
HIPK2-
-
-
-
3Gain-
HIRA-
-
-
-
1Loss-
HIRIP3-
-
-
-
1Loss-
HIST1H2AA-
-
-
-
1Loss-
HIST1H2BA-
-
-
-
1Loss-
HMBOX1-
-
-
-
1Loss-
HMGXB4-
-
-
-
1Loss-
HMOX1-
-
-
-
1Loss-
HMOX2-
-
-
-
1Loss-
HNF4G-
-
-
-
5Amp-
HNRNPA2B1-
-
-
-
3Gain-
HOOK3-
-
-
-
1Loss-
HORMAD2-
-
-
-
1Loss-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HP-
-
-
-
1Loss-
HPR-
-
-
-
1Loss-
HPS4-
-
-
-
1Loss-
HR-
-
-
-
1Loss-
HRNR-
-
-
-
3Gain-
HS3ST2-
-
-
-
1Loss-
HS3ST4-
-
-
-
1Loss-
HS3ST6-
-
-
-
1Loss-
HSBP1-
-
-
-
1Loss-
HSCB-
-
-
-
1Loss-
HSD11B2-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSD3B7-
-
-
-
1Loss-
HSDL1-
-
-
-
1Loss-
HSF1-
-
-
-
5Amp-
HSF4-
-
-
-
1Loss-
HSPB1-
-
-
-
3Gain-
HTR5A-
-
-
-
3Gain-
HTRA4-
-
-
-
1Loss-
HUS1-
-
-
-
3Gain-
HYAL4-
-
-
-
3Gain-
HYDIN-
-
-
-
1Loss-
ICA1-
-
-
-
3Gain-
IDO1-
-
-
-
1Loss-
IDO2-
-
-
-
1Loss-
IFRD1-
-
-
-
3Gain-
IFT140-
-
-
-
1Loss-
IFT22-
-
-
-
3Gain-
IFT27-
-
-
-
1Loss-
IGF2BP3-
-
-
-
3Gain-
IGFALS-
-
-
-
1Loss-
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGHV3OR16-9-
-
-
-
1Loss-
IGLL1-
-
-
-
1Loss-
IGLL5-
-
-
-
1Loss-
IGLV10-54-
-
-
-
1Loss-
IGSF6-
-
-
-
1Loss-
IKBKB-
-
-
-
1Loss-
IKZF1-
-
-
-
3Gain-
IL17C-
-
-
-
1Loss-
IL17RA-
-
-
-
1Loss-
IL17REL-
-
-
-
1Loss-
IL21R-
-
-
-
1Loss-
IL27-
-
-
-
1Loss-
IL2RB-
-
-
-
1Loss-
IL32-
-
-
-
1Loss-
IL34-
-
-
-
1Loss-
IL4R-
-
-
-
1Loss-
IL6-
-
-
-
3Gain-
IL7-
-
-
-
5Amp-
IMMP2L-
-
-
-
3Gain-
IMPA1-
-
-
-
5Amp-
IMPAD1-
-
-
-
5Amp-
IMPDH1-
-
-
-
3Gain-
ING3-
-
-
-
3Gain-
INHBA-
-
-
-
3Gain-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INO80E-
-
-
-
1Loss-
INPP5J-
-
-
-
1Loss-
INSIG1-
-
-
-
3Gain-
INTS1-
-
-
-
3Gain-
INTS10-
-
-
-
1Loss-
INTS8-
-
-
-
5Amp-
INTS9-
-
-
-
1Loss-
IQANK1-
-
-
-
5Amp-
IQCE-
-
-
-
3Gain-
IQCK-
-
-
-
1Loss-
IQUB-
-
-
-
3Gain-
IRF5-
-
-
-
3Gain-
IRF8-
-
-
-
1Loss-
IRX3-
-
-
-
1Loss-
IRX5-
-
-
-
1Loss-
IRX6-
-
-
-
1Loss-
ISPD-
-
-
-
3Gain-
IST1-
-
-
-
1Loss-
ISX-
-
-
-
1Loss-
ITFG1-
-
-
-
1Loss-
ITGAD-
-
-
-
1Loss-
ITGAL-
-
-
-
1Loss-
ITGAM-
-
-
-
1Loss-
ITGAX-
-
-
-
1Loss-
ITGB8-
-
-
-
3Gain-
ITPRID1-
-
-
-
3Gain-
ITPRIPL2-
-
-
-
1Loss-
JAZF1-
-
-
-
3Gain-
JMJD8-
-
-
-
1Loss-
JOSD1-
-
-
-
1Loss-
JPH1-
-
-
-
5Amp-
JPH3-
-
-
-
1Loss-
JPT2-
-
-
-
1Loss-
JRK-
-
-
-
5Amp-
KARS-
-
-
-
1Loss-
KAT6A-
-
-
-
1Loss-
KAT8-
-
-
-
1Loss-
KATNB1-
-
-
-
1Loss-
KBTBD11-
-
-
-
1Loss-
KBTBD11-OT1-
-
-
-
1Loss-
KBTBD2-
-
-
-
3Gain-
KBTBD4-
-
-
-
1Loss-
KCNB2-
-
-
-
5Amp-
KCND2-
-
-
-
3Gain-
KCNG4-
-
-
-
1Loss-
KCNH2-
-
-
-
3Gain-
KCNJ4-
-
-
-
1Loss-
KCNK9-
-
-
-
5Amp-
KCNQ3-
-
-
-
5Amp-
KCNS2-
-
-
-
5Amp-
KCNU1-
-
-
-
1Loss-
KCNV1-
-
-
-
5Amp-
KCP-
-
-
-
3Gain-
KCTD13-
-
-
-
1Loss-
KCTD17-
-
-
-
1Loss-
KCTD19-
-
-
-
1Loss-
KCTD5-
-
-
-
1Loss-
KCTD7-
-
-
-
3Gain-
KCTD9-
-
-
-
1Loss-
KDELR2-
-
-
-
3Gain-
KDELR3-
-
-
-
1Loss-
KDM7A-
-
-
-
3Gain-
KDM8-
-
-
-
1Loss-
KEL-
-
-
-
3Gain-
KHDRBS3-
-
-
-
5Amp-
KIAA0513-
-
-
-
1Loss-
KIAA0556-
-
-
-
1Loss-
KIAA0895-
-
-
-
3Gain-
KIAA0895L-
-
-
-
1Loss-
KIAA0930-
-
-
-
1Loss-
KIAA1147-
-
-
-
3Gain-
KIAA1324L-
-
-
-
3Gain-
KIAA1549-
-
-
-
3Gain-
KIAA1671-
-
-
-
1Loss-
KIF13A-
-
-
-
1Loss-
KIF13B-
-
-
-
1Loss-
KIF22-
-
-
-
1Loss-
KIF26Bp.E1266D
Missense
SNP
0.506
2--
KIFC2-
-
-
-
5Amp-
KIFC3-
-
-
-
1Loss-
KLF10-
-
-
-
5Amp-
KLF14-
-
-
-
3Gain-
KLHDC10-
-
-
-
3Gain-
KLHDC4-
-
-
-
1Loss-
KLHDC7B-
-
-
-
1Loss-
KLHL22-
-
-
-
1Loss-
KLHL36-
-
-
-
1Loss-
KLHL38-
-
-
-
5Amp-
KLHL7-
-
-
-
3Gain-
KLRG2-
-
-
-
3Gain-
KMT2C-
-
-
-
3Gain-
KMT2E-
-
-
-
3Gain-
KNOP1-
-
-
-
1Loss-
KPNA7-
-
-
-
3Gain-
KRBA1-
-
-
-
3Gain-
KREMEN1-
-
-
-
1Loss-
KREMEN2-
-
-
-
1Loss-
KRIT1-
-
-
-
3Gain-
KRT7-
-
-
-
1Loss-
KRT80-
-
-
-
1Loss-
KRT81-
-
-
-
1Loss-
KRT83-
-
-
-
1Loss-
KRT86-
-
-
-
1Loss-
KRTAP5-7p.S110C
Missense
SNP
0.082
2--
L3MBTL2-
-
-
-
1Loss-
LACTB2-
-
-
-
5Amp-
LAMB1-
-
-
-
3Gain-
LAMB4-
-
-
-
3Gain-
LAMTOR4-
-
-
-
3Gain-
LANCL2-
-
-
-
3Gain-
LAPTM4B-
-
-
-
5Amp-
LARGE1-
-
-
-
1Loss-
LARP4-
-
-
-
1Loss-
LAT-
-
-
-
1Loss-
LAT2-
-
-
-
3Gain-
LCAT-
-
-
-
1Loss-
LCMT1-
-
-
-
1Loss-
LDHD-
-
-
-
1Loss-
LEP-
-
-
-
3Gain-
LEPROTL1-
-
-
-
1Loss-
LETM2-
-
-
-
1Loss-
LETMD1-
-
-
-
1Loss-
LFNG-
-
-
-
3Gain-
LGALS1-
-
-
-
1Loss-
LGALS2-
-
-
-
1Loss-
LGI3-
-
-
-
1Loss-
LHFPL3-
-
-
-
3Gain-
LIF-
-
-
-
1Loss-
LIMA1-
-
-
-
1Loss-
LIMK1-
-
-
-
3Gain-
LIMK2-
-
-
-
1Loss-
LITAF-
-
-
-
1Loss-
LLCFC1-
-
-
-
3Gain-
LMBR1-
-
-
-
3Gain-
LMF1-
-
-
-
1Loss-
LMF2-
-
-
-
1Loss-
LMOD2-
-
-
-
3Gain-
LMTK2-
-
-
-
3Gain-
LONP2-
-
-
-
1Loss-
LONRF1-
-
-
-
1Loss-
LOXL2-
-
-
-
1Loss-
LPCAT2-
-
-
-
1Loss-
LPL-
-
-
-
1Loss-
LRCH4-
-
-
-
3Gain-
LRGUK-
-
-
-
3Gain-
LRP12-
-
-
-
5Amp-
LRP1Bp.T3475S
Missense
SNP
0.538
2--
LRP5L-
-
-
-
1Loss-
LRRC14-
-
-
-
5Amp-
LRRC17-
-
-
-
3Gain-
LRRC24-
-
-
-
5Amp-
LRRC29-
-
-
-
1Loss-
LRRC36-
-
-
-
1Loss-
LRRC4-
-
-
-
3Gain-
LRRC6-
-
-
-
5Amp-
LRRC61-
-
-
-
3Gain-
LRRC69-
-
-
-
5Amp-
LRRC72-
-
-
-
3Gain-
LRRC74B-
-
-
-
1Loss-
LRRC75B-
-
-
-
1Loss-
LRRCC1-
-
-
-
5Amp-
LRRD1-
-
-
-
3Gain-
LRRN3-
-
-
-
3Gain-
LRWD1-
-
-
-
3Gain-
LSM1-
-
-
-
1Loss-
LSM5-
-
-
-
3Gain-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LUC7L-
-
-
-
1Loss-
LUC7L2-
-
-
-
3Gain-
LUZP6-
-
-
-
3Gain-
LY6D-
-
-
-
5Amp-
LY6E-
-
-
-
5Amp-
LY6H-
-
-
-
5Amp-
LY6K-
-
-
-
5Amp-
LY6L-
-
-
-
5Amp-
LY96-
-
-
-
5Amp-
LYN-
-
-
-
5Amp-
LYNX1-
-
-
-
5Amp-
LYNX1-SLURP2-
-
-
-
5Amp-
LYPD2-
-
-
-
5Amp-
LYPLA1-
-
-
-
5Amp-
LYRM1-
-
-
-
1Loss-
LZTR1-
-
-
-
1Loss-
LZTS1-
-
-
-
1Loss-
MACC1-
-
-
-
3Gain-
MAD1L1-
-
-
-
3Gain-
MAF-
-
-
-
1Loss-
MAF1-
-
-
-
5Amp-
MAFA-
-
-
-
5Amp-
MAFF-
-
-
-
1Loss-
MAFK-
-
-
-
3Gain-
MAGI2-
-
-
-
3Gain-
MAK16-
-
-
-
1Loss-
MAL2-
-
-
-
5Amp-
MALSU1-
-
-
-
3Gain-
MAP1LC3B-
-
-
-
1Loss-
MAPK1-
-
-
-
1Loss-
MAPK11-
-
-
-
1Loss-
MAPK12-
-
-
-
1Loss-
MAPK15-
-
-
-
5Amp-
MAPK3-
-
-
-
1Loss-
MAPK8IP2-
-
-
-
1Loss-
MAPK8IP3-
-
-
-
1Loss-
MARF1-
-
-
-
1Loss-
MARVELD3-
-
-
-
1Loss-
MATN2-
-
-
-
5Amp-
MAZ-
-
-
-
1Loss-
MB-
-
-
-
1Loss-
MBLAC1-
-
-
-
3Gain-
MBOAT4-
-
-
-
1Loss-
MBTPS1-
-
-
-
1Loss-
MC1R-
-
-
-
1Loss-
MC3Rp.V218I
Missense
SNP
0.446
2--
MCAT-
-
-
-
1Loss-
MCHR1-
-
-
-
1Loss-
MCM4-
-
-
-
5Amp-
MCM5-
-
-
-
1Loss-
MCM7-
-
-
-
3Gain-
MCMDC2-
-
-
-
5Amp-
MCPH1-
-
-
-
1Loss-
MCRIP2-
-
-
-
1Loss-
MDFIC-
-
-
-
3Gain-
MDH2-
-
-
-
3Gain-
MED15-
-
-
-
1Loss-
MED30-
-
-
-
5Amp-
MEFV-
-
-
-
1Loss-
MEI1-
-
-
-
1Loss-
MEIOB-
-
-
-
1Loss-
MEOX2-
-
-
-
3Gain-
MEPCE-
-
-
-
3Gain-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METRN-
-
-
-
1Loss-
METTL22-
-
-
-
1Loss-
METTL26-
-
-
-
1Loss-
METTL27-
-
-
-
3Gain-
METTL2B-
-
-
-
3Gain-
METTL7A-
-
-
-
1Loss-
METTL9-
-
-
-
1Loss-
MFHAS1-
-
-
-
1Loss-
MFNG-
-
-
-
1Loss-
MFSD3-
-
-
-
5Amp-
MGAM-
-
-
-
3Gain-
MGAM2-
-
-
-
3Gain-
MGAT3-
-
-
-
1Loss-
MGRN1-
-
-
-
1Loss-
MICAL3-
-
-
-
1Loss-
MICALL1-
-
-
-
1Loss-
MICALL2-
-
-
-
3Gain-
MICU3-
-
-
-
1Loss-
MIEF1-
-
-
-
1Loss-
MIF-
-
-
-
1Loss-
MINDY4-
-
-
-
3Gain-
MIOS-
-
-
-
3Gain-
MIOX-
-
-
-
1Loss-
MKLN1-
-
-
-
3Gain-
MKRN1-
-
-
-
3Gain-
MLC1-
-
-
-
1Loss-
MLKL-
-
-
-
1Loss-
MLST8-
-
-
-
1Loss-
MLXIPL-
-
-
-
3Gain-
MLYCD-
-
-
-
1Loss-
MMD2-
-
-
-
3Gain-
MMP11-
-
-
-
1Loss-
MMP15-
-
-
-
1Loss-
MMP16-
-
-
-
5Amp-
MMP2-
-
-
-
1Loss-
MMP25-
-
-
-
1Loss-
MN1-
-
-
-
1Loss-
MNX1-
-
-
-
3Gain-
MOGAT3-
-
-
-
3Gain-
MON1B-
-
-
-
1Loss-
MORC2-
-
-
-
1Loss-
MOS-
-
-
-
5Amp-
MOSMO-
-
-
-
1Loss-
MOSPD3-
-
-
-
3Gain-
MOV10L1-
-
-
-
1Loss-
MPG-
-
-
-
1Loss-
MPHOSPH6-
-
-
-
1Loss-
MPLKIP-
-
-
-
3Gain-
MPP6-
-
-
-
3Gain-
MPPED1-
-
-
-
1Loss-
MPST-
-
-
-
1Loss-
MPV17L-
-
-
-
1Loss-
MRM2-
-
-
-
3Gain-
MROH1-
-
-
-
5Amp-
MROH5-
-
-
-
5Amp-
MROH6-
-
-
-
5Amp-
MRPL13-
-
-
-
5Amp-
MRPL15-
-
-
-
5Amp-
MRPL28-
-
-
-
1Loss-
MRPL32-
-
-
-
3Gain-
MRPL40-
-
-
-
1Loss-
MRPS17-
-
-
-
3Gain-
MRPS24-
-
-
-
3Gain-
MRPS28-
-
-
-
5Amp-
MRPS33-
-
-
-
3Gain-
MRPS34-
-
-
-
1Loss-
MRTFA-
-
-
-
1Loss-
MRTFB-
-
-
-
1Loss-
MSC-
-
-
-
5Amp-
MSLN-
-
-
-
1Loss-
MSLNL-
-
-
-
1Loss-
MSR1-
-
-
-
1Loss-
MSRA-
-
-
-
1Loss-
MSRB1-
-
-
-
1Loss-
MT1A-
-
-
-
1Loss-
MT1B-
-
-
-
1Loss-
MT1E-
-
-
-
1Loss-
MT1F-
-
-
-
1Loss-
MT1G-
-
-
-
1Loss-
MT1H-
-
-
-
1Loss-
MT1M-
-
-
-
1Loss-
MT1X-
-
-
-
1Loss-
MT2A-
-
-
-
1Loss-
MT3-
-
-
-
1Loss-
MT4-
-
-
-
1Loss-
MTBP-
-
-
-
5Amp-
MTCH2-
-
-
-
1Loss-
MTDH-
-
-
-
5Amp-
MTERF1-
-
-
-
3Gain-
MTERF3-
-
-
-
5Amp-
MTFP1-
-
-
-
1Loss-
MTFR1-
-
-
-
5Amp-
MTHFSD-
-
-
-
1Loss-
MTMR3-
-
-
-
1Loss-
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTPN-
-
-
-
3Gain-
MTSS1-
-
-
-
5Amp-
MTSS1L-
-
-
-
1Loss-
MTURN-
-
-
-
3Gain-
MTUS1-
-
-
-
1Loss-
MUC12-
-
-
-
3Gain-
MUC17-
-
-
-
3Gain-
MUC3Ap.S2428Y
Missense
SNP
0.185
3Gain-
MVD-
-
-
-
1Loss-
MVP-
-
-
-
1Loss-
MYBL1-
-
-
-
5Amp-
MYC-
-
-
-
5Amp-
MYH11-
-
-
-
1Loss-
MYH9-
-
-
-
1Loss-
MYL10-
-
-
-
3Gain-
MYL7-
-
-
-
3Gain-
MYLK3-
-
-
-
1Loss-
MYLPF-
-
-
-
1Loss-
MYO18B-
-
-
-
1Loss-
MYO1G-
-
-
-
3Gain-
MYOM2-
-
-
-
1Loss-
N4BP1-
-
-
-
1Loss-
NAA60-
-
-
-
1Loss-
NACAD-
-
-
-
3Gain-
NAE1-
-
-
-
1Loss-
NAGA-
-
-
-
1Loss-
NAGPA-
-
-
-
1Loss-
NAMPT-
-
-
-
3Gain-
NAPEPLD-
-
-
-
3Gain-
NAPRT-
-
-
-
5Amp-
NAT1-
-
-
-
1Loss-
NAT16-
-
-
-
3Gain-
NAT2-
-
-
-
1Loss-
NAV3p.E1374G
Missense
SNP
0.521
2--
NBN-
-
-
-
5Amp-
NCALD-
-
-
-
5Amp-
NCAPG2-
-
-
-
3Gain-
NCAPH2-
-
-
-
1Loss-
NCF1-
-
-
-
3Gain-
NCF4-
-
-
-
1Loss-
NCKAP5L-
-
-
-
1Loss-
NCOA2-
-
-
-
5Amp-
NDE1-
-
-
-
1Loss-
NDRG1-
-
-
-
5Amp-
NDRG4-
-
-
-
1Loss-
NDUFA4-
-
-
-
3Gain-
NDUFA5-
-
-
-
3Gain-
NDUFA6-
-
-
-
1Loss-
NDUFAB1-
-
-
-
1Loss-
NDUFAF6-
-
-
-
5Amp-
NDUFB10-
-
-
-
1Loss-
NDUFB2-
-
-
-
3Gain-
NDUFB9-
-
-
-
5Amp-
NDUFS3-
-
-
-
1Loss-
NEBp.D5810N
Missense
SNP
0.500
2--
NECAB1-
-
-
-
5Amp-
NECAB2-
-
-
-
1Loss-
NEFH-
-
-
-
1Loss-
NEFL-
-
-
-
1Loss-
NEFM-
-
-
-
1Loss-
NEIL2-
-
-
-
1Loss-
NETO2-
-
-
-
1Loss-
NEUROD6-
-
-
-
3Gain-
NF2-
-
-
-
1Loss-
NFAM1-
-
-
-
1Loss-
NFAT5-
-
-
-
1Loss-
NFATC2IP-
-
-
-
1Loss-
NFATC3-
-
-
-
1Loss-
NFE2L3-
-
-
-
3Gain-
NFE4-
-
-
-
3Gain-
NHLRC4-
-
-
-
1Loss-
NIP7-
-
-
-
1Loss-
NIPAL2-
-
-
-
5Amp-
NIPSNAP1-
-
-
-
1Loss-
NIPSNAP2-
-
-
-
3Gain-
NKAIN3-
-
-
-
5Amp-
NKD1-
-
-
-
1Loss-
NKX2-6-
-
-
-
1Loss-
NKX3-1-
-
-
-
1Loss-
NKX6-3-
-
-
-
1Loss-
NLRC3-
-
-
-
1Loss-
NLRC5-
-
-
-
1Loss-
NME3-
-
-
-
1Loss-
NME4-
-
-
-
1Loss-
NME8-
-
-
-
3Gain-
NMRAL1-
-
-
-
1Loss-
NOB1-
-
-
-
1Loss-
NOBOX-
-
-
-
3Gain-
NOD1-
-
-
-
3Gain-
NOD2-
-
-
-
1Loss-
NOL12-
-
-
-
1Loss-
NOL3-
-
-
-
1Loss-
NOM1-
-
-
-
3Gain-
NOMO1-
-
-
-
1Loss-
NOMO2-
-
-
-
1Loss-
NOMO3-
-
-
-
1Loss-
NOS3p.D264H
Missense
SNP
0.175
3Gain-
NOV-
-
-
-
5Amp-
NOXO1-
-
-
-
1Loss-
NPAP1p.G183R
Missense
SNP
0.431
2--
NPBWR1-
-
-
-
5Amp-
NPC1L1-
-
-
-
3Gain-
NPIPB11-
-
-
-
1Loss-
NPIPB12-
-
-
-
1Loss-
NPIPB13-
-
-
-
1Loss-
NPIPB15-
-
-
-
1Loss-
NPIPB2-
-
-
-
1Loss-
NPIPB3-
-
-
-
1Loss-
NPIPB4-
-
-
-
1Loss-
NPIPB5-
-
-
-
1Loss-
NPM2-
-
-
-
1Loss-
NPRL3-
-
-
-
1Loss-
NPSR1-
-
-
-
3Gain-
NPTX2-
-
-
-
3Gain-
NPTXR-
-
-
-
1Loss-
NPVF-
-
-
-
3Gain-
NPW-
-
-
-
1Loss-
NPY-
-
-
-
3Gain-
NQO1-
-
-
-
1Loss-
NR4A1-
-
-
-
1Loss-
NRBP2-
-
-
-
5Amp-
NRCAM-
-
-
-
3Gain-
NRF1-
-
-
-
3Gain-
NRG1-
-
-
-
1Loss-
NRN1L-
-
-
-
1Loss-
NRXN1p.D239N
Missense
SNP
0.452
2--
NSD3-
-
-
-
1Loss-
NSMAF-
-
-
-
5Amp-
NSMCE1-
-
-
-
1Loss-
NSMCE2-
-
-
-
5Amp-
NSUN5-
-
-
-
3Gain-
NT5C3A-
-
-
-
3Gain-
NTAN1-
-
-
-
1Loss-
NTHL1-
-
-
-
1Loss-
NTN3-
-
-
-
1Loss-
NTRK1p.G181W
Missense
SNP
0.429
2--
NUB1-
-
-
-
3Gain-
NUBP1-
-
-
-
1Loss-
NUBP2-
-
-
-
1Loss-
NUDCD1-
-
-
-
5Amp-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT10p.E30A
Missense
SNP
0.980
NDND-
NUDT16L1-
-
-
-
1Loss-
NUDT18-
-
-
-
1Loss-
NUDT21-
-
-
-
1Loss-
NUDT7-
-
-
-
1Loss-
NUGGC-
-
-
-
1Loss-
NUP160-
-
-
-
1Loss-
NUP205-
-
-
-
3Gain-
NUP50-
-
-
-
1Loss-
NUP93-
-
-
-
1Loss-
NUPL2-
-
-
-
3Gain-
NUPR1-
-
-
-
1Loss-
NUPR2-
-
-
-
3Gain-
NUTF2-
-
-
-
1Loss-
NUTM1p.K45N
Missense
SNP
0.481
2--
NXPH1-
-
-
-
3Gain-
NYAP1-
-
-
-
3Gain-
OC90-
-
-
-
5Amp-
OCM-
-
-
-
3Gain-
OCM2-
-
-
-
3Gain-
ODF1-
-
-
-
5Amp-
ODF3B-
-
-
-
1Loss-
OGDH-
-
-
-
3Gain-
OGFOD1-
-
-
-
1Loss-
OPLAH-
-
-
-
5Amp-
OPN1SW-
-
-
-
3Gain-
OPRK1-
-
-
-
5Amp-
OR14J1p.T32S
Missense
SNP
0.475
2--
OR1F1-
-
-
-
1Loss-
OR2A1-
-
-
-
3Gain-
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A42-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2A7-
-
-
-
3Gain-
OR2AE1-
-
-
-
3Gain-
OR2C1-
-
-
-
1Loss-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR4N4p.N234Y
Missense
SNP
0.547
NDND-
OR6B1-
-
-
-
3Gain-
OR6V1-
-
-
-
3Gain-
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
ORAI2-
-
-
-
3Gain-
ORAI3-
-
-
-
1Loss-
ORC5-
-
-
-
3Gain-
ORC6-
-
-
-
1Loss-
OSBP2-
-
-
-
1Loss-
OSBPL3-
-
-
-
3Gain-
OSGIN1-
-
-
-
1Loss-
OSGIN2-
-
-
-
5Amp-
OSM-
-
-
-
1Loss-
OSR2-
-
-
-
5Amp-
OTOA-
-
-
-
1Loss-
OTUD6B-
-
-
-
5Amp-
OXR1-
-
-
-
5Amp-
P2RX6-
-
-
-
1Loss-
PABPC1-
-
-
-
5Amp-
PABPN1L-
-
-
-
1Loss-
PACSIN2-
-
-
-
1Loss-
PAG1-
-
-
-
5Amp-
PAGR1-
-
-
-
1Loss-
PALB2-
-
-
-
1Loss-
PAM16-
-
-
-
1Loss-
PANX2-
-
-
-
1Loss-
PAPOLB-
-
-
-
3Gain-
PAQR4-
-
-
-
1Loss-
PARD3-
-
-
-
1Loss-
PARD6A-
-
-
-
1Loss-
PARN-
-
-
-
1Loss-
PARP10-
-
-
-
5Amp-
PARP12-
-
-
-
3Gain-
PARVB-
-
-
-
1Loss-
PARVG-
-
-
-
1Loss-
PATZ1-
-
-
-
1Loss-
PAX4-
-
-
-
3Gain-
PAXIP1-
-
-
-
3Gain-
PBK-
-
-
-
1Loss-
PCDHA5p.A48V
Missense
SNP
0.551
2--
PCDHGA1p.R717W
Missense
SNP
0.614
2--
PCDHGB7p.D772G
Missense
SNP
0.566
2--
PCLO-
-
-
-
3Gain-
PCM1-
-
-
-
1Loss-
PCMTD1-
-
-
-
5Amp-
PCOLCE-
-
-
-
3Gain-
PDAP1-
-
-
-
3Gain-
PDE1C-
-
-
-
3Gain-
PDE7A-
-
-
-
5Amp-
PDF-
-
-
-
1Loss-
PDGFA-
-
-
-
3Gain-
PDGFB-
-
-
-
1Loss-
PDGFRL-
-
-
-
1Loss-
PDIA2-
-
-
-
1Loss-
PDIA4-
-
-
-
3Gain-
PDILT-
-
-
-
1Loss-
PDK4-
-
-
-
3Gain-
PDLIM2-
-
-
-
1Loss-
PDP1-
-
-
-
5Amp-
PDP2-
-
-
-
1Loss-
PDPK1-
-
-
-
1Loss-
PDPR-
-
-
-
1Loss-
PDXDC1-
-
-
-
1Loss-
PDXP-
-
-
-
1Loss-
PDZD9-
-
-
-
1Loss-
PEBP4-
-
-
-
1Loss-
PEG10-
-
-
-
3Gain-
PENK-
-
-
-
5Amp-
PES1-
-
-
-
1Loss-
PEX1-
-
-
-
3Gain-
PEX2-
-
-
-
5Amp-
PEX26-
-
-
-
1Loss-
PGAM2-
-
-
-
3Gain-
PGP-
-
-
-
1Loss-
PHETA2-
-
-
-
1Loss-
PHF14-
-
-
-
3Gain-
PHF20L1-
-
-
-
5Amp-
PHF21B-
-
-
-
1Loss-
PHF5A-
-
-
-
1Loss-
PHKB-
-
-
-
1Loss-
PHKG1-
-
-
-
3Gain-
PHKG2-
-
-
-
1Loss-
PHLPP2-
-
-
-
1Loss-
PHTF2-
-
-
-
3Gain-
PHYHIP-
-
-
-
1Loss-
PI15-
-
-
-
5Amp-
PI4KA-
-
-
-
1Loss-
PICK1-
-
-
-
1Loss-
PIEZO1-
-
-
-
1Loss-
PIGQ-
-
-
-
1Loss-
PIK3CG-
-
-
-
3Gain-
PIK3IP1-
-
-
-
1Loss-
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PIM3-
-
-
-
1Loss-
PINX1-
-
-
-
1Loss-
PIP-
-
-
-
3Gain-
PIP4P2-
-
-
-
5Amp-
PISD-
-
-
-
1Loss-
PITPNB-
-
-
-
1Loss-
PIWIL2-
-
-
-
1Loss-
PIWIL3-
-
-
-
1Loss-
PKD1-
-
-
-
1Loss-
PKD1L1-
-
-
-
3Gain-
PKD1L2-
-
-
-
1Loss-
PKD1L3-
-
-
-
1Loss-
PKDREJ-
-
-
-
1Loss-
PKHD1L1-
-
-
-
5Amp-
PKIA-
-
-
-
5Amp-
PKMYT1-
-
-
-
1Loss-
PLA2G10-
-
-
-
1Loss-
PLA2G15-
-
-
-
1Loss-
PLA2G3-
-
-
-
1Loss-
PLA2G6-
-
-
-
1Loss-
PLAG1-
-
-
-
5Amp-
PLAT-
-
-
-
1Loss-
PLCG2-
-
-
-
1Loss-
PLEC-
-
-
-
5Amp-
PLEKHA2-
-
-
-
1Loss-
PLEKHA8-
-
-
-
3Gain-
PLEKHF2-
-
-
-
5Amp-
PLEKHG4-
-
-
-
1Loss-
PLK1-
-
-
-
1Loss-
PLLP-
-
-
-
1Loss-
PLOD3-
-
-
-
3Gain-
PLPBP-
-
-
-
1Loss-
PLPP5-
-
-
-
1Loss-
PLXNA4-
-
-
-
3Gain-
PLXNB2-
-
-
-
1Loss-
PMFBP1-
-
-
-
1Loss-
PMM1-
-
-
-
1Loss-
PMM2-
-
-
-
1Loss-
PMP2-
-
-
-
5Amp-
PMPCB-
-
-
-
3Gain-
PMS2-
-
-
-
3Gain-
PNMA2-
-
-
-
1Loss-
PNOC-
-
-
-
1Loss-
PNPLA3-
-
-
-
1Loss-
PNPLA5-
-
-
-
1Loss-
PNPLA8-
-
-
-
3Gain-
PODXL-
-
-
-
3Gain-
POLB-
-
-
-
1Loss-
POLD2-
-
-
-
3Gain-
POLDIP3-
-
-
-
1Loss-
POLM-
-
-
-
3Gain-
POLR2C-
-
-
-
1Loss-
POLR2F-
-
-
-
1Loss-
POLR2J-
-
-
-
3Gain-
POLR2J3-
-
-
-
3Gain-
POLR2K-
-
-
-
5Amp-
POLR3Cp.K123Q
Missense
SNP
0.519
2--
POLR3D-
-
-
-
1Loss-
POLR3E-
-
-
-
1Loss-
POLR3H-
-
-
-
1Loss-
POLR3K-
-
-
-
1Loss-
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12-
-
-
-
3Gain-
POMK-
-
-
-
1Loss-
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP1-
-
-
-
5Amp-
POP7-
-
-
-
3Gain-
POPDC3p.A25T
Missense
SNP
0.496
2--
POR-
-
-
-
3Gain-
POT1-
-
-
-
3Gain-
POTEFp.H896R
Missense
SNP
0.200
2--
POTEH-
-
-
-
1Loss-
POU5F1B-
-
-
-
5Amp-
POU6F1-
-
-
-
1Loss-
POU6F2-
-
-
-
3Gain-
PPARA-
-
-
-
1Loss-
PPDPFL-
-
-
-
5Amp-
PPIA-
-
-
-
3Gain-
PPIL2-
-
-
-
1Loss-
PPL-
-
-
-
1Loss-
PPM1F-
-
-
-
1Loss-
PPP1R16A-
-
-
-
5Amp-
PPP1R17-
-
-
-
3Gain-
PPP1R35-
-
-
-
3Gain-
PPP1R3A-
-
-
-
3Gain-
PPP1R3B-
-
-
-
1Loss-
PPP1R42-
-
-
-
5Amp-
PPP1R9A-
-
-
-
3Gain-
PPP2CB-
-
-
-
1Loss-
PPP2R2A-
-
-
-
1Loss-
PPP3CC-
-
-
-
1Loss-
PPP4C-
-
-
-
1Loss-
PPP6R2-
-
-
-
1Loss-
PRAG1-
-
-
-
1Loss-
PRAME-
-
-
-
1Loss-
PRB2p.Q79R
Missense
SNP
0.394
2--
PRDM14-
-
-
-
5Amp-
PRDM7-
-
-
-
1Loss-
PREX2-
-
-
-
5Amp-
PRKAG2-
-
-
-
3Gain-
PRKAR1B-
-
-
-
3Gain-
PRKAR2B-
-
-
-
3Gain-
PRKCB-
-
-
-
1Loss-
PRKDC-
-
-
-
5Amp-
PRKRIP1-
-
-
-
3Gain-
PRM1-
-
-
-
1Loss-
PRM2-
-
-
-
1Loss-
PRM3-
-
-
-
1Loss-
PRMT7-
-
-
-
1Loss-
PRODH-
-
-
-
1Loss-
PRPS1L1-
-
-
-
3Gain-
PRR14-
-
-
-
1Loss-
PRR14L-
-
-
-
1Loss-
PRR15-
-
-
-
3Gain-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR35-
-
-
-
1Loss-
PRR5-
-
-
-
1Loss-
PRR5-ARHGAP8-
-
-
-
1Loss-
PRRT2-
-
-
-
1Loss-
PRRT4-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS2-
-
-
-
3Gain-
PRSS21-
-
-
-
1Loss-
PRSS22-
-
-
-
1Loss-
PRSS27-
-
-
-
1Loss-
PRSS33-
-
-
-
1Loss-
PRSS36-
-
-
-
1Loss-
PRSS37-
-
-
-
3Gain-
PRSS41-
-
-
-
1Loss-
PRSS53-
-
-
-
1Loss-
PRSS54-
-
-
-
1Loss-
PRSS55-
-
-
-
1Loss-
PRSS58-
-
-
-
3Gain-
PRSS8-
-
-
-
1Loss-
PSCA-
-
-
-
5Amp-
PSD3-
-
-
-
1Loss-
PSKH1-
-
-
-
1Loss-
PSKH2-
-
-
-
5Amp-
PSMA2-
-
-
-
3Gain-
PSMB10-
-
-
-
1Loss-
PSMC2-
-
-
-
3Gain-
PSMD7-
-
-
-
1Loss-
PSMG3-
-
-
-
3Gain-
PSPH-
-
-
-
3Gain-
PTCD1-
-
-
-
3Gain-
PTDSS1-
-
-
-
5Amp-
PTK2-
-
-
-
5Amp-
PTK2B-
-
-
-
1Loss-
PTNp.R71W
Missense
SNP
0.569
3Gain-
PTP4A3-
-
-
-
5Amp-
PTPMT1-
-
-
-
1Loss-
PTPN12-
-
-
-
3Gain-
PTPRN2-
-
-
-
3Gain-
PTPRZ1-
-
-
-
3Gain-
PTX4-
-
-
-
1Loss-
PUF60-
-
-
-
5Amp-
PURB-
-
-
-
3Gain-
PURG-
-
-
-
1Loss-
PUS7-
-
-
-
3Gain-
PVALB-
-
-
-
1Loss-
PVRIG-
-
-
-
3Gain-
PXDNL-
-
-
-
5Amp-
PYCARD-
-
-
-
1Loss-
PYCR3-
-
-
-
5Amp-
PYDC1-
-
-
-
1Loss-
QPRT-
-
-
-
1Loss-
QSOX2p.P12L
Missense
SNP
0.364
2--
R3HCC1-
-
-
-
1Loss-
RAB11FIP1-
-
-
-
1Loss-
RAB11FIP3-
-
-
-
1Loss-
RAB19-
-
-
-
3Gain-
RAB26-
-
-
-
1Loss-
RAB2A-
-
-
-
5Amp-
RAB36-
-
-
-
1Loss-
RAB40C-
-
-
-
1Loss-
RABEP2-
-
-
-
1Loss-
RABGEF1-
-
-
-
3Gain-
RABL2B-
-
-
-
1Loss-
RAC1-
-
-
-
3Gain-
RAC2-
-
-
-
1Loss-
RACGAP1-
-
-
-
1Loss-
RAD21-
-
-
-
5Amp-
RAD54B-
-
-
-
5Amp-
RADIL-
-
-
-
3Gain-
RALA-
-
-
-
3Gain-
RALYL-
-
-
-
5Amp-
RAMP3-
-
-
-
3Gain-
RANBP1-
-
-
-
1Loss-
RANBP10-
-
-
-
1Loss-
RANGAP1-
-
-
-
1Loss-
RAPGEF5-
-
-
-
3Gain-
RARRES2-
-
-
-
3Gain-
RASA4-
-
-
-
3Gain-
RASA4B-
-
-
-
3Gain-
RASD2-
-
-
-
1Loss-
RASL10A-
-
-
-
1Loss-
RB1CC1-
-
-
-
5Amp-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBBP6-
-
-
-
1Loss-
RBFOX1-
-
-
-
1Loss-
RBFOX2-
-
-
-
1Loss-
RBL2-
-
-
-
1Loss-
RBM12B-
-
-
-
5Amp-
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM48-
-
-
-
3Gain-
RBPMS-
-
-
-
1Loss-
RBX1-
-
-
-
1Loss-
RCC1L-
-
-
-
3Gain-
RDH10-
-
-
-
5Amp-
RECQL4-
-
-
-
5Amp-
REEP4-
-
-
-
1Loss-
RELN-
-
-
-
3Gain-
REPIN1-
-
-
-
3Gain-
REXO5-
-
-
-
1Loss-
RFC2-
-
-
-
3Gain-
RFPL1-
-
-
-
1Loss-
RFPL2-
-
-
-
1Loss-
RFPL3-
-
-
-
1Loss-
RFWD3-
-
-
-
1Loss-
RGL4-
-
-
-
1Loss-
RGS11-
-
-
-
1Loss-
RGS20-
-
-
-
5Amp-
RGS22-
-
-
-
5Amp-
RHBDD2-
-
-
-
3Gain-
RHBDD3-
-
-
-
1Loss-
RHBDF1-
-
-
-
1Loss-
RHBDL1-
-
-
-
1Loss-
RHEB-
-
-
-
3Gain-
RHOBTB2-
-
-
-
1Loss-
RHOT2-
-
-
-
1Loss-
RHPN1-
-
-
-
5Amp-
RIBC2-
-
-
-
1Loss-
RIDA-
-
-
-
5Amp-
RIMS1p.P359L
Missense
SNP
0.567
2--
RIMS2-
-
-
-
5Amp-
RINT1-
-
-
-
3Gain-
RIPK2-
-
-
-
5Amp-
RIPOR1-
-
-
-
1Loss-
RIPOR2-
-
-
-
1Loss-
RMDN1-
-
-
-
5Amp-
RMI2-
-
-
-
1Loss-
RNF122-
-
-
-
1Loss-
RNF133-
-
-
-
3Gain-
RNF139-
-
-
-
5Amp-
RNF148-
-
-
-
3Gain-
RNF151-
-
-
-
1Loss-
RNF166-
-
-
-
1Loss-
RNF170-
-
-
-
1Loss-
RNF185-
-
-
-
1Loss-
RNF19A-
-
-
-
5Amp-
RNF215-
-
-
-
1Loss-
RNF216-
-
-
-
3Gain-
RNF32-
-
-
-
3Gain-
RNF40-
-
-
-
1Loss-
RNPS1-
-
-
-
1Loss-
RNU105C-
-
-
-
NDNDSNORA73A--RNU105C
ROGDI-
-
-
-
1Loss-
RP1-
-
-
-
5Amp-
RP1L1-
-
-
-
1Loss-
RP9-
-
-
-
3Gain-
RPA3-
-
-
-
3Gain-
RPGRIP1L-
-
-
-
1Loss-
RPL13-
-
-
-
1Loss-
RPL3-
-
-
-
1Loss-
RPL30-
-
-
-
5Amp-
RPL3L-
-
-
-
1Loss-
RPL7-
-
-
-
5Amp-
RPL8-
-
-
-
5Amp-
RPS15A-
-
-
-
1Loss-
RPS19BP1-
-
-
-
1Loss-
RPS2-
-
-
-
1Loss-
RPS20-
-
-
-
5Amp-
RPTN-
-
-
-
3Gain-
RPUSD1-
-
-
-
1Loss-
RRAD-
-
-
-
1Loss-
RRM2B-
-
-
-
5Amp-
RRN3-
-
-
-
1Loss-
RRP7A-
-
-
-
1Loss-
RRS1-
-
-
-
5Amp-
RSBN1L-
-
-
-
3Gain-
RSL1D1-
-
-
-
1Loss-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH14-
-
-
-
1Loss-
RSPO2-
-
-
-
5Amp-
RSPRY1-
-
-
-
1Loss-
RTCB-
-
-
-
1Loss-
RTL10-
-
-
-
1Loss-
RTL6-
-
-
-
1Loss-
RTN4R-
-
-
-
1Loss-
RUNDC3B-
-
-
-
3Gain-
RUNX1T1-
-
-
-
5Amp-
SALL1-
-
-
-
1Loss-
SAMD12-
-
-
-
5Amp-
SAMD9-
-
-
-
3Gain-
SAMD9L-
-
-
-
3Gain-
SAMM50-
-
-
-
1Loss-
SAP25-
-
-
-
3Gain-
SARAF-
-
-
-
1Loss-
SBDS-
-
-
-
3Gain-
SBF1-
-
-
-
1Loss-
SBK1-
-
-
-
1Loss-
SBSPON-
-
-
-
5Amp-
SCARA3-
-
-
-
1Loss-
SCARA5-
-
-
-
1Loss-
SCARF2-
-
-
-
1Loss-
SCGN-
-
-
-
1Loss-
SCIN-
-
-
-
3Gain-
SCNN1B-
-
-
-
1Loss-
SCNN1G-
-
-
-
1Loss-
SCO2-
-
-
-
1Loss-
SCRIB-
-
-
-
5Amp-
SCRN1-
-
-
-
3Gain-
SCRT1-
-
-
-
5Amp-
SCUBE1-
-
-
-
1Loss-
SCX-
-
-
-
5Amp-
SDC2-
-
-
-
5Amp-
SDCBP-
-
-
-
5Amp-
SDF2L1-
-
-
-
1Loss-
SDHAF3-
-
-
-
3Gain-
SDK1-
-
-
-
3Gain-
SDR16C5-
-
-
-
5Amp-
SDR42E1-
-
-
-
1Loss-
SDR42E2-
-
-
-
1Loss-
SEC14L2-
-
-
-
1Loss-
SEC14L3-
-
-
-
1Loss-
SEC14L4-
-
-
-
1Loss-
SEC14L5-
-
-
-
1Loss-
SEC14L6-
-
-
-
1Loss-
SEC61G-
-
-
-
3Gain-
SELENOM-
-
-
-
1Loss-
SELENOO-
-
-
-
1Loss-
SEM1-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEPHS2-
-
-
-
1Loss-
SEPT1-
-
-
-
1Loss-
SEPT12-
-
-
-
1Loss-
SEPT14-
-
-
-
3Gain-
SEPT3-
-
-
-
1Loss-
SEPT5-
-
-
-
1Loss-
SEPT5-GP1BB-
-
-
-
1Loss-
SEPT7-
-
-
-
3Gain-
SERHL2-
-
-
-
1Loss-
SERPIND1-
-
-
-
1Loss-
SERPINE1-
-
-
-
3Gain-
SETD1A-
-
-
-
1Loss-
SETD6-
-
-
-
1Loss-
SEZ6L-
-
-
-
1Loss-
SEZ6L2-
-
-
-
1Loss-
SF3A1-
-
-
-
1Loss-
SF3B3-
-
-
-
1Loss-
SFI1-
-
-
-
1Loss-
SFRP1-
-
-
-
1Loss-
SFRP4-
-
-
-
3Gain-
SFTPC-
-
-
-
1Loss-
SGCE-
-
-
-
3Gain-
SGCZ-
-
-
-
1Loss-
SGF29-
-
-
-
1Loss-
SGK3-
-
-
-
5Amp-
SGSM1-
-
-
-
1Loss-
SGSM3-
-
-
-
1Loss-
SH2B1-
-
-
-
1Loss-
SH2B2-
-
-
-
3Gain-
SH2D4A-
-
-
-
1Loss-
SH3BP1-
-
-
-
1Loss-
SHANK3-
-
-
-
1Loss-
SHARPIN-
-
-
-
5Amp-
SHCBP1-
-
-
-
1Loss-
SHH-
-
-
-
3Gain-
SHISA8-
-
-
-
1Loss-
SHISA9-
-
-
-
1Loss-
SHISAL1-
-
-
-
1Loss-
SIAH1-
-
-
-
1Loss-
SKAP2-
-
-
-
3Gain-
SLA-
-
-
-
5Amp-
SLC10A5-
-
-
-
5Amp-
SLC11A2-
-
-
-
1Loss-
SLC12A3-
-
-
-
1Loss-
SLC12A4-
-
-
-
1Loss-
SLC12A9-
-
-
-
3Gain-
SLC13A1-
-
-
-
3Gain-
SLC13A4-
-
-
-
3Gain-
SLC16A8-
-
-
-
1Loss-
SLC17A1-
-
-
-
1Loss-
SLC17A2-
-
-
-
1Loss-
SLC17A3-
-
-
-
1Loss-
SLC17A4-
-
-
-
1Loss-
SLC18A1-
-
-
-
1Loss-
SLC20A2-
-
-
-
1Loss-
SLC22A31-
-
-
-
1Loss-
SLC25A1-
-
-
-
1Loss-
SLC25A13-
-
-
-
3Gain-
SLC25A17-
-
-
-
1Loss-
SLC25A18-
-
-
-
1Loss-
SLC25A32-
-
-
-
5Amp-
SLC25A37-
-
-
-
1Loss-
SLC25A40-
-
-
-
3Gain-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A7-
-
-
-
5Amp-
SLC29A4-
-
-
-
3Gain-
SLC2A11-
-
-
-
1Loss-
SLC30A8-
-
-
-
5Amp-
SLC35B4-
-
-
-
3Gain-
SLC35E4-
-
-
-
1Loss-
SLC35G5-
-
-
-
1Loss-
SLC37A3-
-
-
-
3Gain-
SLC38A7-
-
-
-
1Loss-
SLC38A8-
-
-
-
1Loss-
SLC39A14-
-
-
-
1Loss-
SLC39A4-
-
-
-
5Amp-
SLC45A4-
-
-
-
5Amp-
SLC4A2-
-
-
-
3Gain-
SLC52A2-
-
-
-
5Amp-
SLC5A1-
-
-
-
1Loss-
SLC5A11-
-
-
-
1Loss-
SLC5A2-
-
-
-
1Loss-
SLC5A4-
-
-
-
1Loss-
SLC6A2-
-
-
-
1Loss-
SLC7A13-
-
-
-
5Amp-
SLC7A2-
-
-
-
1Loss-
SLC7A4-
-
-
-
1Loss-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC9A3R2-
-
-
-
1Loss-
SLC9A5-
-
-
-
1Loss-
SLCO5A1-
-
-
-
5Amp-
SLURP1-
-
-
-
5Amp-
SLURP2-
-
-
-
5Amp-
SLX1A-
-
-
-
1Loss-
SLX1B-
-
-
-
1Loss-
SLX4-
-
-
-
1Loss-
SMAGP-
-
-
-
1Loss-
SMARCB1-
-
-
-
1Loss-
SMARCD1-
-
-
-
1Loss-
SMARCD3-
-
-
-
3Gain-
SMC1B-
-
-
-
1Loss-
SMDT1-
-
-
-
1Loss-
SMG1-
-
-
-
1Loss-
SMIM18-
-
-
-
1Loss-
SMIM19-
-
-
-
1Loss-
SMIM22-
-
-
-
1Loss-
SMIM30-
-
-
-
3Gain-
SMKR1-
-
-
-
3Gain-
SMO-
-
-
-
3Gain-
SMPD3-
-
-
-
1Loss-
SMTN-
-
-
-
1Loss-
SMURF1-
-
-
-
3Gain-
SNAI2-
-
-
-
5Amp-
SNAI3-
-
-
-
1Loss-
SNAP29-
-
-
-
1Loss-
SND1-
-
-
-
3Gain-
SNN-
-
-
-
1Loss-
SNORA73A-
-
-
-
NDNDSNORA73A--RNU105C
SNRNP25-
-
-
-
1Loss-
SNRPD3-
-
-
-
1Loss-
SNTB1-
-
-
-
5Amp-
SNTB2-
-
-
-
1Loss-
SNTG1-
-
-
-
5Amp-
SNU13-
-
-
-
1Loss-
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX16-
-
-
-
5Amp-
SNX20-
-
-
-
1Loss-
SNX29-
-
-
-
1Loss-
SNX31-
-
-
-
5Amp-
SNX8-
-
-
-
3Gain-
SOCS1-
-
-
-
1Loss-
SORBS3-
-
-
-
1Loss-
SOSTDC1-
-
-
-
3Gain-
SOX10-
-
-
-
1Loss-
SOX17-
-
-
-
5Amp-
SOX7-
-
-
-
1Loss-
SOX8-
-
-
-
1Loss-
SP4-
-
-
-
3Gain-
SP8-
-
-
-
3Gain-
SPAG1-
-
-
-
5Amp-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAM1-
-
-
-
3Gain-
SPATA2L-
-
-
-
1Loss-
SPATA33-
-
-
-
1Loss-
SPATA48-
-
-
-
3Gain-
SPATC1-
-
-
-
5Amp-
SPDYE3-
-
-
-
3Gain-
SPDYE6-
-
-
-
3Gain-
SPECC1L-
-
-
-
1Loss-
SPECC1L-ADORA2A-
-
-
-
1Loss-
SPG7-
-
-
-
1Loss-
SPIDR-
-
-
-
5Amp-
SPIRE2-
-
-
-
1Loss-
SPN-
-
-
-
1Loss-
SPNS1-
-
-
-
1Loss-
SPSB3-
-
-
-
1Loss-
SQLE-
-
-
-
5Amp-
SRCAP-
-
-
-
1Loss-
SREBF2-
-
-
-
1Loss-
SRI-
-
-
-
3Gain-
SRL-
-
-
-
1Loss-
SRPK2-
-
-
-
3Gain-
SRRD-
-
-
-
1Loss-
SRRM2-
-
-
-
1Loss-
SRRM3-
-
-
-
3Gain-
SRRT-
-
-
-
3Gain-
SSBP1-
-
-
-
3Gain-
SSC4D-
-
-
-
3Gain-
SSMEM1-
-
-
-
3Gain-
SSPO-
-
-
-
3Gain-
SSTR3-
-
-
-
1Loss-
SSTR5-
-
-
-
1Loss-
SSU72P8-
-
-
-
3Gain-
ST13-
-
-
-
1Loss-
ST18-
-
-
-
5Amp-
ST3GAL1-
-
-
-
5Amp-
ST3GAL2-
-
-
-
1Loss-
ST7-
-
-
-
3Gain-
STAG3-
-
-
-
3Gain-
STAR-
-
-
-
1Loss-
STARD3NL-
-
-
-
3Gain-
STAU2-
-
-
-
5Amp-
STC1-
-
-
-
1Loss-
STEAP1-
-
-
-
3Gain-
STEAP1B-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP4-
-
-
-
3Gain-
STK17A-
-
-
-
3Gain-
STK3-
-
-
-
5Amp-
STK31-
-
-
-
3Gain-
STMN2-
-
-
-
5Amp-
STMN4-
-
-
-
1Loss-
STMP1-
-
-
-
3Gain-
STRA8-
-
-
-
3Gain-
STRIP2-
-
-
-
3Gain-
STUB1-
-
-
-
1Loss-
STX1A-
-
-
-
3Gain-
STX1B-
-
-
-
1Loss-
STX4-
-
-
-
1Loss-
STYXL1-
-
-
-
3Gain-
SUGCT-
-
-
-
3Gain-
SULF1-
-
-
-
5Amp-
SULT1A1-
-
-
-
1Loss-
SULT1A2-
-
-
-
1Loss-
SULT1A3-
-
-
-
1Loss-
SULT1A4-
-
-
-
1Loss-
SULT4A1-
-
-
-
1Loss-
SUMF2-
-
-
-
3Gain-
SUN1-
-
-
-
3Gain-
SUN2-
-
-
-
1Loss-
SUN3-
-
-
-
3Gain-
SUSD2-
-
-
-
1Loss-
SVOPL-
-
-
-
3Gain-
SYBU-
-
-
-
5Amp-
SYCE1L-
-
-
-
1Loss-
SYCE3-
-
-
-
1Loss-
SYN3-
-
-
-
1Loss-
SYNE2p.E5614_D5619del
In_Frame_Del
DEL
0.327
2--
SYNGR1-
-
-
-
1Loss-
SYNGR3-
-
-
-
1Loss-
SYPL1-
-
-
-
3Gain-
SYT17-
-
-
-
1Loss-
TAB1-
-
-
-
1Loss-
TAC1-
-
-
-
3Gain-
TACC1-
-
-
-
1Loss-
TAF1C-
-
-
-
1Loss-
TAF2-
-
-
-
5Amp-
TAF6-
-
-
-
3Gain-
TANGO2-
-
-
-
1Loss-
TANGO6-
-
-
-
1Loss-
TAOK2-
-
-
-
1Loss-
TAS2R16-
-
-
-
3Gain-
TAS2R3-
-
-
-
3Gain-
TAS2R38-
-
-
-
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R5-
-
-
-
3Gain-
TAS2R60-
-
-
-
3Gain-
TAT-
-
-
-
1Loss-
TATDN1-
-
-
-
5Amp-
TAX1BP1-
-
-
-
3Gain-
TBC1D10A-
-
-
-
1Loss-
TBC1D10B-
-
-
-
1Loss-
TBC1D22A-
-
-
-
1Loss-
TBC1D24-
-
-
-
1Loss-
TBC1D31-
-
-
-
5Amp-
TBL2-
-
-
-
3Gain-
TBL3-
-
-
-
1Loss-
TBRG4-
-
-
-
3Gain-
TBX1-
-
-
-
1Loss-
TBX20-
-
-
-
3Gain-
TBX3p.R436Pfs*2
Frame_Shift_Del
DEL
0.451
2--
TBX6-
-
-
-
1Loss-
TBXAS1-
-
-
-
3Gain-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCEA1-
-
-
-
5Amp-
TCF20-
-
-
-
1Loss-
TCF24-
-
-
-
5Amp-
TCF25-
-
-
-
1Loss-
TCHH-
-
-
-
3Gain-
TCIM-
-
-
-
1Loss-
TCN2-
-
-
-
1Loss-
TDP2-
-
-
-
1Loss-
TDRP-
-
-
-
1Loss-
TECPR1-
-
-
-
3Gain-
TEDC2-
-
-
-
1Loss-
TEF-
-
-
-
1Loss-
TEKT5-
-
-
-
1Loss-
TELO2-
-
-
-
1Loss-
TENT4B-
-
-
-
1Loss-
TEPP-
-
-
-
1Loss-
TERB1-
-
-
-
1Loss-
TERF1-
-
-
-
5Amp-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TES-
-
-
-
3Gain-
TEX15-
-
-
-
1Loss-
TEX33-
-
-
-
1Loss-
TEX47-
-
-
-
3Gain-
TFAP4-
-
-
-
1Loss-
TFCP2-
-
-
-
1Loss-
TFEC-
-
-
-
3Gain-
TFIP11-
-
-
-
1Loss-
TFPI2-
-
-
-
3Gain-
TFR2-
-
-
-
3Gain-
TG-
-
-
-
5Amp-
TGFB1I1-
-
-
-
1Loss-
TGS1-
-
-
-
5Amp-
THAP1-
-
-
-
1Loss-
THAP11-
-
-
-
1Loss-
THAP5-
-
-
-
3Gain-
THAP7-
-
-
-
1Loss-
THEM6-
-
-
-
5Amp-
THOC5-
-
-
-
1Loss-
THOC6-
-
-
-
1Loss-
THSD7A-
-
-
-
3Gain-
THUMPD1-
-
-
-
1Loss-
TIGD5-
-
-
-
5Amp-
TIGD7-
-
-
-
1Loss-
TIMP3-
-
-
-
1Loss-
TK2-
-
-
-
1Loss-
TLDC1-
-
-
-
1Loss-
TLE7-
-
-
-
1Loss-
TM2D2-
-
-
-
1Loss-
TMC5-
-
-
-
1Loss-
TMC7-
-
-
-
1Loss-
TMED4-
-
-
-
3Gain-
TMED6-
-
-
-
1Loss-
TMEM106B-
-
-
-
3Gain-
TMEM114-
-
-
-
1Loss-
TMEM120A-
-
-
-
3Gain-
TMEM121B-
-
-
-
1Loss-
TMEM130-
-
-
-
3Gain-
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM159-
-
-
-
1Loss-
TMEM160p.E188K
Missense
SNP
0.442
2--
TMEM168-
-
-
-
3Gain-
TMEM170A-
-
-
-
1Loss-
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM178B-
-
-
-
3Gain-
TMEM184A-
-
-
-
3Gain-
TMEM184B-
-
-
-
1Loss-
TMEM186-
-
-
-
1Loss-
TMEM191B-
-
-
-
1Loss-
TMEM191C-
-
-
-
1Loss-
TMEM196-
-
-
-
3Gain-
TMEM204-
-
-
-
1Loss-
TMEM208-
-
-
-
1Loss-
TMEM209-
-
-
-
3Gain-
TMEM211-
-
-
-
1Loss-
TMEM213-
-
-
-
3Gain-
TMEM219-
-
-
-
1Loss-
TMEM225B-
-
-
-
3Gain-
TMEM229A-
-
-
-
3Gain-
TMEM231-
-
-
-
1Loss-
TMEM243-
-
-
-
3Gain-
TMEM248-
-
-
-
3Gain-
TMEM249-
-
-
-
5Amp-
TMEM270-
-
-
-
3Gain-
TMEM60-
-
-
-
3Gain-
TMEM64-
-
-
-
5Amp-
TMEM65-
-
-
-
5Amp-
TMEM67-
-
-
-
5Amp-
TMEM68-
-
-
-
5Amp-
TMEM70-
-
-
-
5Amp-
TMEM71-
-
-
-
5Amp-
TMEM74-
-
-
-
5Amp-
TMEM8A-
-
-
-
1Loss-
TMPRSS12-
-
-
-
1Loss-
TMPRSS6-
-
-
-
1Loss-
TMUB1-
-
-
-
3Gain-
TNFRSF10A-
-
-
-
1Loss-
TNFRSF10B-
-
-
-
1Loss-
TNFRSF10C-
-
-
-
1Loss-
TNFRSF10D-
-
-
-
1Loss-
TNFRSF11B-
-
-
-
5Amp-
TNFRSF12A-
-
-
-
1Loss-
TNFRSF13C-
-
-
-
1Loss-
TNFRSF17-
-
-
-
1Loss-
TNKS-
-
-
-
1Loss-
TNP2-
-
-
-
1Loss-
TNPO3-
-
-
-
3Gain-
TNRC18-
-
-
-
3Gain-
TNRC6A-
-
-
-
1Loss-
TNRC6B-
-
-
-
1Loss-
TNS3-
-
-
-
3Gain-
TOB2-
-
-
-
1Loss-
TOM1-
-
-
-
1Loss-
TOMM22-
-
-
-
1Loss-
TOMM7-
-
-
-
3Gain-
TONSL-
-
-
-
5Amp-
TOP1MT-
-
-
-
5Amp-
TOP3B-
-
-
-
1Loss-
TOX-
-
-
-
5Amp-
TOX3-
-
-
-
1Loss-
TP53p.R248Q
Missense
SNP
1.000
2--
TP53INP1-
-
-
-
5Amp-
TPD52-
-
-
-
5Amp-
TPK1-
-
-
-
3Gain-
TPOp.G860R
Missense
SNP
0.533
2--
TPPP3-
-
-
-
1Loss-
TPSAB1-
-
-
-
1Loss-
TPSB2-
-
-
-
1Loss-
TPSD1-
-
-
-
1Loss-
TPSG1-
-
-
-
1Loss-
TPST1-
-
-
-
3Gain-
TPST2-
-
-
-
1Loss-
TPTEP2-CSNK1E-
-
-
-
1Loss-
TRA2A-
-
-
-
3Gain-
TRABD-
-
-
-
1Loss-
TRADD-
-
-
-
1Loss-
TRAF7-
-
-
-
1Loss-
TRAM1-
-
-
-
5Amp-
TRAP1-
-
-
-
1Loss-
TRAPPC2L-
-
-
-
1Loss-
TRAPPC9-
-
-
-
5Amp-
TRHR-
-
-
-
5Amp-
TRIB1-
-
-
-
5Amp-
TRIL-
-
-
-
3Gain-
TRIM24-
-
-
-
3Gain-
TRIM35-
-
-
-
1Loss-
TRIM4-
-
-
-
3Gain-
TRIM50-
-
-
-
3Gain-
TRIM55-
-
-
-
5Amp-
TRIM56-
-
-
-
3Gain-
TRIM58p.A97T
Missense
SNP
0.333
2--
TRIM72-
-
-
-
1Loss-
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIOBP-
-
-
-
1Loss-
TRIP6-
-
-
-
3Gain-
TRIQK-
-
-
-
5Amp-
TRMT12-
-
-
-
5Amp-
TRMT2A-
-
-
-
1Loss-
TRMT9B-
-
-
-
1Loss-
TRMU-
-
-
-
1Loss-
TRPA1-
-
-
-
5Amp-
TRPS1-
-
-
-
5Amp-
TRPV5-
-
-
-
3Gain-
TRPV6-
-
-
-
3Gain-
TRRAP-
-
-
-
3Gain-
TSC2-
-
-
-
1Loss-
TSC22D4-
-
-
-
3Gain-
TSGA13-
-
-
-
3Gain-
TSNARE1-
-
-
-
5Amp-
TSNAXIP1-
-
-
-
1Loss-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN33-
-
-
-
3Gain-
TSPO-
-
-
-
1Loss-
TSPYL5-
-
-
-
5Amp-
TSR3-
-
-
-
1Loss-
TSSK2-
-
-
-
1Loss-
TST-
-
-
-
1Loss-
TSTA3-
-
-
-
5Amp-
TTC26-
-
-
-
3Gain-
TTC28-
-
-
-
1Loss-
TTC38-
-
-
-
1Loss-
TTI2-
-
-
-
1Loss-
TTLL1-
-
-
-
1Loss-
TTLL12-
-
-
-
1Loss-
TTLL8-
-
-
-
1Loss-
TTPA-
-
-
-
5Amp-
TTYH3-
-
-
-
3Gain-
TUBA8-
-
-
-
1Loss-
TUBB3-
-
-
-
1Loss-
TUBGCP6-
-
-
-
1Loss-
TUFM-
-
-
-
1Loss-
TUSC3-
-
-
-
1Loss-
TVP23A-
-
-
-
1Loss-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TXN2-
-
-
-
1Loss-
TXNDC11-
-
-
-
1Loss-
TXNL4B-
-
-
-
1Loss-
TXNRD2-
-
-
-
1Loss-
TYMP-
-
-
-
1Loss-
TYW1-
-
-
-
3Gain-
TYW1B-
-
-
-
3Gain-
UBALD1-
-
-
-
1Loss-
UBE2D4-
-
-
-
3Gain-
UBE2H-
-
-
-
3Gain-
UBE2I-
-
-
-
1Loss-
UBE2L3-
-
-
-
1Loss-
UBE2V2-
-
-
-
5Amp-
UBE2W-
-
-
-
5Amp-
UBE3C-
-
-
-
3Gain-
UBFD1-
-
-
-
1Loss-
UBN1-
-
-
-
1Loss-
UBN2-
-
-
-
3Gain-
UBR5-
-
-
-
5Amp-
UBXN2B-
-
-
-
5Amp-
UBXN8-
-
-
-
1Loss-
UFD1-
-
-
-
1Loss-
UFSP1-
-
-
-
3Gain-
UMAD1-
-
-
-
3Gain-
UMOD-
-
-
-
1Loss-
UNC5Cp.R603H
Missense
SNP
0.462
2--
UNC5D-
-
-
-
1Loss-
UNCX-
-
-
-
3Gain-
UNKL-
-
-
-
1Loss-
UPB1-
-
-
-
1Loss-
UPK3A-
-
-
-
1Loss-
UPK3B-
-
-
-
3Gain-
UPK3BL1-
-
-
-
3Gain-
UPP1-
-
-
-
3Gain-
UQCR10-
-
-
-
1Loss-
UQCRB-
-
-
-
5Amp-
UQCRC2-
-
-
-
1Loss-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
USB1-
-
-
-
1Loss-
USP10-
-
-
-
1Loss-
USP17L7-
-
-
-
1Loss-
USP18-
-
-
-
1Loss-
USP31-
-
-
-
1Loss-
USP41-
-
-
-
1Loss-
USP42-
-
-
-
3Gain-
USP7-
-
-
-
1Loss-
UTP23-
-
-
-
5Amp-
UTP4-
-
-
-
1Loss-
VAC14-
-
-
-
1Loss-
VASN-
-
-
-
1Loss-
VAT1L-
-
-
-
1Loss-
VCPIP1-
-
-
-
5Amp-
VDAC3-
-
-
-
1Loss-
VGF-
-
-
-
3Gain-
VIPR2-
-
-
-
3Gain-
VIRMA-
-
-
-
5Amp-
VKORC1-
-
-
-
1Loss-
VKORC1L1-
-
-
-
3Gain-
VOPP1-
-
-
-
3Gain-
VPREB1-
-
-
-
1Loss-
VPREB3-
-
-
-
1Loss-
VPS13B-
-
-
-
5Amp-
VPS28-
-
-
-
5Amp-
VPS35-
-
-
-
1Loss-
VPS35L-
-
-
-
1Loss-
VPS37A-
-
-
-
1Loss-
VPS37D-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS4A-
-
-
-
1Loss-
VPS50-
-
-
-
3Gain-
VPS9D1-
-
-
-
1Loss-
VSTM2A-
-
-
-
3Gain-
VSTM5p.L153F
Missense
SNP
0.989
2--
VWA3A-
-
-
-
1Loss-
VWC2-
-
-
-
3Gain-
VWC2Lp.F115Sfs*35
Frame_Shift_Del
DEL
0.482
2--
VWDE-
-
-
-
3Gain-
VXN-
-
-
-
5Amp-
WASHC5-
-
-
-
5Amp-
WASL-
-
-
-
3Gain-
WBP2NL-
-
-
-
1Loss-
WDR24-
-
-
-
1Loss-
WDR59-
-
-
-
1Loss-
WDR60-
-
-
-
3Gain-
WDR86-
-
-
-
3Gain-
WDR90-
-
-
-
1Loss-
WDR91-
-
-
-
3Gain-
WDR97-
-
-
-
5Amp-
WDYHV1-
-
-
-
5Amp-
WEE2-
-
-
-
3Gain-
WFDC1-
-
-
-
1Loss-
WFIKKN1-
-
-
-
1Loss-
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WISP1-
-
-
-
5Amp-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WNT7B-
-
-
-
1Loss-
WRN-
-
-
-
1Loss-
WWOX-
-
-
-
1Loss-
WWP1-
-
-
-
5Amp-
WWP2-
-
-
-
1Loss-
XBP1-
-
-
-
1Loss-
XKR3-
-
-
-
1Loss-
XKR4-
-
-
-
5Amp-
XKR5-
-
-
-
1Loss-
XKR6-
-
-
-
1Loss-
XKR9-
-
-
-
5Amp-
XPNPEP3-
-
-
-
1Loss-
XPO6-
-
-
-
1Loss-
XPO7-
-
-
-
1Loss-
XRCC2-
-
-
-
3Gain-
XRCC6-
-
-
-
1Loss-
XYLT1-
-
-
-
1Loss-
YAE1-
-
-
-
3Gain-
YDJC-
-
-
-
1Loss-
YKT6-
-
-
-
3Gain-
YPEL1-
-
-
-
1Loss-
YPEL3-
-
-
-
1Loss-
YTHDF3-
-
-
-
5Amp-
YWHAG-
-
-
-
3Gain-
YWHAH-
-
-
-
1Loss-
YWHAZ-
-
-
-
5Amp-
Z82190.2-
-
-
-
1Loss-
Z83844.1-
-
-
-
1Loss-
Z83844.3-
-
-
-
1Loss-
ZAN-
-
-
-
3Gain-
ZBED4-
-
-
-
1Loss-
ZBED6CL-
-
-
-
3Gain-
ZBTB10-
-
-
-
5Amp-
ZC2HC1A-
-
-
-
5Amp-
ZC3H18-
-
-
-
1Loss-
ZC3H3-
-
-
-
5Amp-
ZC3H7A-
-
-
-
1Loss-
ZC3H7B-
-
-
-
1Loss-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC14-
-
-
-
1Loss-
ZCWPW1-
-
-
-
3Gain-
ZDHHC1-
-
-
-
1Loss-
ZDHHC2-
-
-
-
1Loss-
ZDHHC4-
-
-
-
3Gain-
ZDHHC7-
-
-
-
1Loss-
ZDHHC8-
-
-
-
1Loss-
ZFAND1-
-
-
-
5Amp-
ZFAND2A-
-
-
-
3Gain-
ZFAT-
-
-
-
5Amp-
ZFHX3-
-
-
-
1Loss-
ZFHX4-
-
-
-
5Amp-
ZFP1-
-
-
-
1Loss-
ZFP41-
-
-
-
5Amp-
ZFP90-
-
-
-
1Loss-
ZFPM1-
-
-
-
1Loss-
ZFPM2-
-
-
-
5Amp-
ZG16-
-
-
-
1Loss-
ZG16B-
-
-
-
1Loss-
ZHX1-
-
-
-
5Amp-
ZHX1-C8orf76-
-
-
-
5Amp-
ZHX2-
-
-
-
5Amp-
ZKSCAN1-
-
-
-
3Gain-
ZKSCAN2-
-
-
-
1Loss-
ZKSCAN5-
-
-
-
3Gain-
ZMAT4-
-
-
-
1Loss-
ZMAT5-
-
-
-
1Loss-
ZMIZ2-
-
-
-
3Gain-
ZNF107-
-
-
-
3Gain-
ZNF117-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF138-
-
-
-
3Gain-
ZNF16-
-
-
-
5Amp-
ZNF174-
-
-
-
1Loss-
ZNF19-
-
-
-
1Loss-
ZNF200-
-
-
-
1Loss-
ZNF205-
-
-
-
1Loss-
ZNF212-
-
-
-
3Gain-
ZNF213-
-
-
-
1Loss-
ZNF23-
-
-
-
1Loss-
ZNF250-
-
-
-
5Amp-
ZNF251-
-
-
-
5Amp-
ZNF263-
-
-
-
1Loss-
ZNF267-
-
-
-
1Loss-
ZNF273-
-
-
-
3Gain-
ZNF276-
-
-
-
1Loss-
ZNF277-
-
-
-
3Gain-
ZNF280A-
-
-
-
1Loss-
ZNF280B-
-
-
-
1Loss-
ZNF282-
-
-
-
3Gain-
ZNF3-
-
-
-
3Gain-
ZNF316-
-
-
-
3Gain-
ZNF319-
-
-
-
1Loss-
ZNF34-
-
-
-
5Amp-
ZNF394-
-
-
-
3Gain-
ZNF395-
-
-
-
1Loss-
ZNF398-
-
-
-
3Gain-
ZNF423-
-
-
-
1Loss-
ZNF425-
-
-
-
3Gain-
ZNF467-
-
-
-
3Gain-
ZNF469-
-
-
-
1Loss-
ZNF479-
-
-
-
3Gain-
ZNF48-
-
-
-
1Loss-
ZNF500-
-
-
-
1Loss-
ZNF517-
-
-
-
5Amp-
ZNF572-
-
-
-
5Amp-
ZNF596-
-
-
-
1Loss-
ZNF597-
-
-
-
1Loss-
ZNF598-
-
-
-
1Loss-
ZNF623-
-
-
-
5Amp-
ZNF629-
-
-
-
1Loss-
ZNF646-
-
-
-
1Loss-
ZNF655-
-
-
-
3Gain-
ZNF668-
-
-
-
1Loss-
ZNF679-
-
-
-
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF688-
-
-
-
1Loss-
ZNF689-
-
-
-
1Loss-
ZNF696-
-
-
-
5Amp-
ZNF7-
-
-
-
5Amp-
ZNF70-
-
-
-
1Loss-
ZNF703-
-
-
-
1Loss-
ZNF704-
-
-
-
5Amp-
ZNF706-
-
-
-
5Amp-
ZNF707-
-
-
-
5Amp-
ZNF711p.S632F
Missense
SNP
1.000
NDND-
ZNF713-
-
-
-
3Gain-
ZNF716-
-
-
-
3Gain-
ZNF720-
-
-
-
1Loss-
ZNF727-
-
-
-
3Gain-
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF74-
-
-
-
1Loss-
ZNF746-
-
-
-
3Gain-
ZNF747-
-
-
-
1Loss-
ZNF75A-
-
-
-
1Loss-
ZNF764-
-
-
-
1Loss-
ZNF768-
-
-
-
1Loss-
ZNF771-
-
-
-
1Loss-
ZNF775-
-
-
-
3Gain-
ZNF777-
-
-
-
3Gain-
ZNF778-
-
-
-
1Loss-
ZNF783-
-
-
-
3Gain-
ZNF785-
-
-
-
1Loss-
ZNF786-
-
-
-
3Gain-
ZNF789-
-
-
-
3Gain-
ZNF800-
-
-
-
3Gain-
ZNF804B-
-
-
-
3Gain-
ZNF821-
-
-
-
1Loss-
ZNF843-
-
-
-
1Loss-
ZNF853-
-
-
-
3Gain-
ZNF862-
-
-
-
3Gain-
ZNF92-
-
-
-
3Gain-
ZNHIT1-
-
-
-
3Gain-
ZNRF1-
-
-
-
1Loss-
ZNRF2-
-
-
-
3Gain-
ZNRF3-
-
-
-
1Loss-
ZP2-
-
-
-
1Loss-
ZP3-
-
-
-
3Gain-
ZPBP-
-
-
-
3Gain-
ZSCAN10-
-
-
-
1Loss-
ZSCAN21-
-
-
-
3Gain-
ZSCAN25-
-
-
-
3Gain-
ZSCAN32-
-
-
-
1Loss-
ZYX-
-
-
-
3Gain-