MDACC-TC255-PDX-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
ABCA13p.G4171W
Missense
SNP
0.376
2-ND
ABCA2p.A231S
Missense
SNP
0.943
2-ND
ABCA7-
-
-
-
1LossND
ABCB10-
-
-
-
3GainND
ABHD17A-
-
-
-
1LossND
ABHD8-
-
-
-
1LossND
ABL2-
-
-
-
3GainND
AC002985.1-
-
-
-
1LossND
AC005258.1-
-
-
-
1LossND
AC005943.1-
-
-
-
1LossND
AC006538.2-
-
-
-
1LossND
AC007192.1-
-
-
-
1LossND
AC008397.2-
-
-
-
1LossND
AC008481.3-
-
-
-
1LossND
AC008758.1-
-
-
-
1LossND
AC008758.4-
-
-
-
1LossND
AC008758.5-
-
-
-
1LossND
AC008758.6-
-
-
-
1LossND
AC008763.2-
-
-
-
1LossND
AC008763.3-
-
-
-
1LossND
AC008764.1-
-
-
-
1LossND
AC008764.4-
-
-
-
1LossND
AC008770.1-
-
-
-
1LossND
AC008770.2-
-
-
-
1LossND
AC008878.1-
-
-
-
1LossND
AC008878.2-
-
-
-
1LossND
AC008878.3-
-
-
-
1LossND
AC010319.2-
-
-
-
1LossND
AC010323.1-
-
-
-
1LossND
AC010422.3-
-
-
-
1LossND
AC010422.5-
-
-
-
1LossND
AC010422.6-
-
-
-
1LossND
AC010422.8-
-
-
-
1LossND
AC010463.1-
-
-
-
1LossND
AC010615.4-
-
-
-
1LossND
AC010646.1-
-
-
-
1LossND
AC011448.1-
-
-
-
1LossND
AC011498.4-
-
-
-
1LossND
AC011499.1-
-
-
-
1LossND
AC011511.1-
-
-
-
1LossND
AC011511.4-
-
-
-
1LossND
AC024592.3-
-
-
-
1LossND
AC092017.3-
-
-
-
3GainND
AC092329.3-
-
-
-
1LossND
AC104532.1-
-
-
-
1LossND
AC118470.1-
-
-
-
3GainND
AC119396.1-
-
-
-
1LossND
AC243547.3-
-
-
-
3GainND
ACACBp.Q1753H
Missense
SNP
0.482
2-ND
ACBD3-
-
-
-
3GainND
ACBD4p.S304L
Missense
SNP
0.469
2-ND
ACBD6-
-
-
-
3GainND
ACER1-
-
-
-
1LossND
ACER2-
-
-
-
1LossND
ACKR1-
-
-
-
3GainND
ACO1-
-
-
-
1LossND
ACP5-
-
-
-
1LossND
ACP6-
-
-
-
3GainND
ACRCp.S124N
Missense
SNP
0.293
NDNDND
ACSBG2-
-
-
-
1LossND
ACTA1-
-
-
-
3GainND
ACTL9-
-
-
-
1LossND
ACTN2-
-
-
-
3GainND
ADAM15-
-
-
-
3GainND
ADAMTS10-
-
-
-
1LossND
ADAMTS4-
-
-
-
3GainND
ADAMTSL1-
-
-
-
1LossND
ADAMTSL4-
-
-
-
3GainND
ADAMTSL5-
-
-
-
1LossND
ADAR-
-
-
-
3GainND
ADAT3-
-
-
-
1LossND
ADCY10-
-
-
-
3GainND
ADCYAP1-
-
-
-
1LossND
ADGRE1-
-
-
-
1LossND
ADGRE2-
-
-
-
1LossND
ADGRE3-
-
-
-
1LossND
ADGRE5-
-
-
-
1LossND
ADGRL1-
-
-
-
1LossND
ADGRL3p.L320M
Missense
SNP
0.497
2-ND
ADIPOR1-
-
-
-
3GainND
ADORA1-
-
-
-
3GainND
ADSS-
-
-
-
3GainND
AES-
-
-
-
1LossND
AFG3L2-
-
-
-
1LossND
AGT-
-
-
-
3GainND
AGXTp.Q137L
Missense
SNP
0.409
2-ND
AHCTF1-
-
-
-
3GainND
AIDA-
-
-
-
3GainND
AIM2p.G247V
Missense
SNP
0.297
3GainND
AK3-
-
-
-
1LossND
AKAIN1-
-
-
-
1LossND
AKAP8-
-
-
-
1LossND
AKAP8L-
-
-
-
1LossND
AKT3-
-
-
-
3GainND
AL117348.2-
-
-
-
3GainND
AL133410.3-
-
-
-
1LossND
AL138752.2-
-
-
-
1LossND
AL139011.2-
-
-
-
3GainND
AL139142.2-
-
-
-
3GainND
AL162231.3-
-
-
-
1LossND
AL358472.6-
-
-
-
3GainND
AL358472.7-
-
-
-
3GainND
AL359922.1-
-
-
-
1LossND
AL512785.2-
-
-
-
3GainND
AL513165.2-
-
-
-
1LossND
AL590132.1-
-
-
-
3GainND
AL591806.3-
-
-
-
3GainND
AL691442.1-
-
-
-
3GainND
AL713999.1-
-
-
-
3GainND
ALDH1B1-
-
-
-
1LossND
ALDH9A1-
-
-
-
3GainND
ALKBH7-
-
-
-
1LossND
ALOX5p.F46L
Missense
SNP
0.472
2-ND
AMH-
-
-
-
1LossND
ANGEL2-
-
-
-
3GainND
ANGPTL1-
-
-
-
3GainND
ANGPTL4-
-
-
-
1LossND
ANGPTL6-
-
-
-
1LossND
ANGPTL8-
-
-
-
1LossND
ANKLE1-
-
-
-
1LossND
ANKRD12-
-
-
-
1LossND
ANKRD18A-
-
-
-
1LossND
ANKRD18B-
-
-
-
1LossND
ANKRD24-
-
-
-
1LossND
ANKRD30B-
-
-
-
1LossND
ANKRD34A-
-
-
-
3GainND
ANKRD35-
-
-
-
3GainND
ANKRD36Cp.T1445S
Missense
SNP
0.578
2-ND
ANKRD45-
-
-
-
3GainND
ANKRD62-
-
-
-
1LossND
ANO8-
-
-
-
1LossND
ANP32E-
-
-
-
3GainND
ANXA9-
-
-
-
3GainND
AP1M1-
-
-
-
1LossND
AP1M2-
-
-
-
1LossND
AP2B1p.Q353*
Nonsense
SNP
0.425
2-ND
AP3D1-
-
-
-
1LossND
APBA3-
-
-
-
1LossND
APC2-
-
-
-
1LossND
APCDD1-
-
-
-
1LossND
APCS-
-
-
-
3GainND
APH1A-
-
-
-
3GainND
APOA2-
-
-
-
3GainND
APOBEC4-
-
-
-
3GainND
APTX-
-
-
-
1LossND
AQP10-
-
-
-
3GainND
AQP3-
-
-
-
1LossND
AQP7-
-
-
-
1LossND
ARF1-
-
-
-
3GainND
ARHGAP28-
-
-
-
1LossND
ARHGAP30-
-
-
-
3GainND
ARHGAP45-
-
-
-
1LossND
ARHGEF11-
-
-
-
3GainND
ARHGEF18-
-
-
-
1LossND
ARHGEF2-
-
-
-
3GainND
ARHGEF39-
-
-
-
1LossND
ARID3A-
-
-
-
1LossND
ARID3C-
-
-
-
1LossND
ARID4B-
-
-
-
3GainND
ARL8A-
-
-
-
3GainND
ARMC6-
-
-
-
1LossND
ARMCX4p.G1838V
Missense
SNP
0.592
NDNDND
ARNT-
-
-
-
3GainND
ARPC5-
-
-
-
3GainND
ARRDC2-
-
-
-
1LossND
ARRDC5-
-
-
-
1LossND
ARV1-
-
-
-
3GainND
ASF1B-
-
-
-
1LossND
ASH1L-
-
-
-
3GainND
ASNA1-
-
-
-
1LossND
ASPM-
-
-
-
3GainND
ASTN1-
-
-
-
3GainND
ATCAYp.E367*
Nonsense
SNP
0.976
1LossND
ATF3-
-
-
-
3GainND
ATF6-
-
-
-
3GainND
ATG2Ap.Q1039H
Missense
SNP
0.466
2-ND
ATG4D-
-
-
-
1LossND
ATP13A1-
-
-
-
1LossND
ATP1A2-
-
-
-
3GainND
ATP1A4-
-
-
-
3GainND
ATP1B1-
-
-
-
3GainND
ATP2B4-
-
-
-
3GainND
ATP5F1D-
-
-
-
1LossND
ATP6V1B1p.G25W
Missense
SNP
0.484
2-ND
ATP6V1G3-
-
-
-
3GainND
ATP7Ap.Q268E
Missense
SNP
0.354
NDNDND
ATP8B2-
-
-
-
3GainND
ATP8B3-
-
-
-
1LossND
ATP8B4p.P1113Q
Missense
SNP
0.573
2-ND
AVPR1B-
-
-
-
3GainND
AXDND1-
-
-
-
3GainND
AZU1-
-
-
-
1LossND
B3GALNT2-
-
-
-
3GainND
B3GALT2-
-
-
-
3GainND
B3GNT3-
-
-
-
1LossND
B4GALNT2p.V224I
Missense
SNP
0.116
2-ND
B4GALT1-
-
-
-
1LossND
B4GALT3-
-
-
-
3GainND
BABAM1-
-
-
-
1LossND
BAG1-
-
-
-
1LossND
BATF3-
-
-
-
3GainND
BCAN-
-
-
-
3GainND
BCL9-
-
-
-
3GainND
BCORp.P1091S
p.A970G
Missense
Missense
SNP
SNP
0.399
0.374
NDNDND
BEST2-
-
-
-
1LossND
BGLAP-
-
-
-
3GainND
BLZF1-
-
-
-
3GainND
BNC2-
-
-
-
1LossND
BNIPL-
-
-
-
3GainND
BOLA1-
-
-
-
3GainND
BORCS8-
-
-
-
1LossND
BORCS8-MEF2B-
-
-
-
1LossND
BPNT1-
-
-
-
3GainND
BRD4-
-
-
-
1LossND
BRINP2-
-
-
-
3GainND
BRINP3-
-
-
-
3GainND
BROX-
-
-
-
3GainND
BSG-
-
-
-
1LossND
BST2-
-
-
-
1LossND
BTBD2-
-
-
-
1LossND
BTG2-
-
-
-
3GainND
C11orf42p.L146I
Missense
SNP
0.536
2-ND
C19orf24-
-
-
-
1LossND
C19orf25-
-
-
-
1LossND
C19orf38-
-
-
-
1LossND
C19orf44-
-
-
-
1LossND
C19orf53-
-
-
-
1LossND
C19orf57-
-
-
-
1LossND
C19orf66-
-
-
-
1LossND
C19orf67-
-
-
-
1LossND
C19orf70-
-
-
-
1LossND
C19orf71-
-
-
-
1LossND
C1GALT1C1p.L44V
Missense
SNP
0.354
NDNDND
C1orf100-
-
-
-
3GainND
C1orf105-
-
-
-
3GainND
C1orf112-
-
-
-
3GainND
C1orf115-
-
-
-
3GainND
C1orf116-
-
-
-
3GainND
C1orf131-
-
-
-
3GainND
C1orf189-
-
-
-
3GainND
C1orf198-
-
-
-
3GainND
C1orf21-
-
-
-
3GainND
C1orf226-
-
-
-
3GainND
C1orf35-
-
-
-
3GainND
C1orf43-
-
-
-
3GainND
C1orf53-
-
-
-
3GainND
C1orf54-
-
-
-
3GainND
C1orf56-
-
-
-
3GainND
C1orf61-
-
-
-
3GainND
C1orf68-
-
-
-
3GainND
C1orf74-
-
-
-
3GainND
C2CD4C-
-
-
-
1LossND
C2CD4D-
-
-
-
3GainND
C2orf47p.R46del
In_Frame_Del
DEL
0.434
NDNDND
C3-
-
-
-
1LossND
C4BPA-
-
-
-
3GainND
C4BPB-
-
-
-
3GainND
C9orf131-
-
-
-
1LossND
C9orf24-
-
-
-
1LossND
C9orf66-
-
-
-
1LossND
C9orf72-
-
-
-
1LossND
C9orf92-
-
-
-
1LossND
CA14-
-
-
-
3GainND
CA9-
-
-
-
1LossND
CAAP1-
-
-
-
1LossND
CACNA1A-
-
-
-
1LossND
CACNA1E-
-
-
-
3GainND
CACNA1S-
-
-
-
3GainND
CACTIN-
-
-
-
1LossND
CACYBP-
-
-
-
3GainND
CADM3-
-
-
-
3GainND
CALR-
-
-
-
1LossND
CALR3-
-
-
-
1LossND
CAMK1G-
-
-
-
3GainND
CAMSAP2-
-
-
-
3GainND
CAMSAP3-
-
-
-
1LossND
CAPN2-
-
-
-
3GainND
CAPN8-
-
-
-
3GainND
CAPN9-
-
-
-
3GainND
CAPS-
-
-
-
1LossND
CARM1-
-
-
-
1LossND
CASP14-
-
-
-
1LossND
CASQ1-
-
-
-
3GainND
CATSPERD-
-
-
-
1LossND
CATSPERE-
-
-
-
3GainND
CBARP-
-
-
-
1LossND
CBFA2T3p.S564I
Missense
SNP
0.478
2-ND
CC2D1A-
-
-
-
1LossND
CCDC105-
-
-
-
1LossND
CCDC107-
-
-
-
1LossND
CCDC124-
-
-
-
1LossND
CCDC130-
-
-
-
1LossND
CCDC151-
-
-
-
1LossND
CCDC158p.C944S
Missense
SNP
0.439
2-ND
CCDC159-
-
-
-
1LossND
CCDC168p.Q2662Kfs*24
Frame_Shift_Del
DEL
0.473
2-ND
CCDC171-
-
-
-
1LossND
CCDC181-
-
-
-
3GainND
CCDC185-
-
-
-
3GainND
CCDC190-
-
-
-
3GainND
CCDC194-
-
-
-
1LossND
CCIN-
-
-
-
1LossND
CCL19-
-
-
-
1LossND
CCL21-
-
-
-
1LossND
CCL25-
-
-
-
1LossND
CCL27p.D59N
Missense
SNP
0.927
1LossND
CCSAP-
-
-
-
3GainND
CCT3-
-
-
-
3GainND
CD160-
-
-
-
3GainND
CD1A-
-
-
-
3GainND
CD1B-
-
-
-
3GainND
CD1C-
-
-
-
3GainND
CD1D-
-
-
-
3GainND
CD1E-
-
-
-
3GainND
CD209-
-
-
-
1LossND
CD244-
-
-
-
3GainND
CD247-
-
-
-
3GainND
CD274-
-
-
-
1LossND
CD320-
-
-
-
1LossND
CD34-
-
-
-
3GainND
CD46-
-
-
-
3GainND
CD48-
-
-
-
3GainND
CD55-
-
-
-
3GainND
CD5L-
-
-
-
3GainND
CD70-
-
-
-
1LossND
CD72-
-
-
-
1LossND
CD84-
-
-
-
3GainND
CDC34-
-
-
-
1LossND
CDC37-
-
-
-
1LossND
CDC37L1-
-
-
-
1LossND
CDC42BPA-
-
-
-
3GainND
CDC42SE1-
-
-
-
3GainND
CDC73-
-
-
-
3GainND
CDH8p.E166G
Missense
SNP
0.509
2-ND
CDHR3p.L136*
Nonsense
SNP
0.452
2-ND
CDK18-
-
-
-
3GainND
CDKN2A-
-
-
-
0DelND
CDKN2B-
-
-
-
0DelND
CDKN2D-
-
-
-
1LossND
CELF3-
-
-
-
3GainND
CELF5-
-
-
-
1LossND
CENPF-
-
-
-
3GainND
CENPL-
-
-
-
3GainND
CEP170-
-
-
-
3GainND
CEP192-
-
-
-
1LossND
CEP350-
-
-
-
3GainND
CEP76-
-
-
-
1LossND
CER1-
-
-
-
1LossND
CERS1-
-
-
-
1LossND
CERS2-
-
-
-
3GainND
CERS4-
-
-
-
1LossND
CETN1-
-
-
-
1LossND
CFAP126-
-
-
-
3GainND
CFAP45-
-
-
-
3GainND
CFD-
-
-
-
1LossND
CFH-
-
-
-
3GainND
CFHR1-
-
-
-
3GainND
CFHR2-
-
-
-
3GainND
CFHR3-
-
-
-
3GainND
CFHR4-
-
-
-
3GainND
CFHR5-
-
-
-
3GainND
CGN-
-
-
-
3GainND
CHADp.V78E
Missense
SNP
0.440
2-ND
CHAF1A-
-
-
-
1LossND
CHD1L-
-
-
-
3GainND
CHERP-
-
-
-
1LossND
CHI3L1-
-
-
-
3GainND
CHIT1-
-
-
-
3GainND
CHML-
-
-
-
3GainND
CHMP1B-
-
-
-
1LossND
CHMP5-
-
-
-
1LossND
CHRM3-
-
-
-
3GainND
CHRNB2-
-
-
-
3GainND
CHTOP-
-
-
-
3GainND
CIART-
-
-
-
3GainND
CIB3-
-
-
-
1LossND
CIDEA-
-
-
-
1LossND
CILP2-
-
-
-
1LossND
CIRBP-
-
-
-
1LossND
CKS1B-
-
-
-
3GainND
CLEC17A-
-
-
-
1LossND
CLEC4G-
-
-
-
1LossND
CLEC4M-
-
-
-
1LossND
CLIP1p.E640Q
Missense
SNP
0.539
2-ND
CLK2-
-
-
-
3GainND
CLPP-
-
-
-
1LossND
CLTA-
-
-
-
1LossND
CLUL1-
-
-
-
1LossND
CNIH3-
-
-
-
3GainND
CNIH4-
-
-
-
3GainND
CNN1-
-
-
-
1LossND
CNN2-
-
-
-
1LossND
CNST-
-
-
-
3GainND
CNTFR-
-
-
-
1LossND
CNTLN-
-
-
-
1LossND
CNTN2-
-
-
-
3GainND
COA6-
-
-
-
3GainND
COG2-
-
-
-
3GainND
COL26A1p.P234H
Missense
SNP
0.477
2-ND
COL5A3-
-
-
-
1LossND
COLEC12-
-
-
-
1LossND
COLGALT1-
-
-
-
1LossND
COLGALT2-
-
-
-
3GainND
COMP-
-
-
-
1LossND
COP1-
-
-
-
3GainND
COPA-
-
-
-
3GainND
COPE-
-
-
-
1LossND
COQ8A-
-
-
-
3GainND
COX20-
-
-
-
3GainND
CPAMD8-
-
-
-
1LossND
CPEB1p.S29T
Missense
SNP
0.491
2-ND
CR1-
-
-
-
3GainND
CR1L-
-
-
-
3GainND
CR2-
-
-
-
3GainND
CRABP2-
-
-
-
3GainND
CRB1-
-
-
-
3GainND
CRB3-
-
-
-
1LossND
CRCT1-
-
-
-
3GainND
CREB3-
-
-
-
1LossND
CREB3L3-
-
-
-
1LossND
CREB3L4-
-
-
-
3GainND
CREG1-
-
-
-
3GainND
CRLF1-
-
-
-
1LossND
CRNN-
-
-
-
3GainND
CRP-
-
-
-
3GainND
CRTC1-
-
-
-
1LossND
CRTC2-
-
-
-
3GainND
CSNK1G2-
-
-
-
1LossND
CSPG4p.A1687D
Missense
SNP
0.564
2-ND
CSRP1-
-
-
-
3GainND
CTNNA2p.V420G
Missense
SNP
0.055
2-ND
CTSE-
-
-
-
3GainND
CTSK-
-
-
-
3GainND
CTSS-
-
-
-
3GainND
CTXN1-
-
-
-
1LossND
CUX2p.R1458W
Missense
SNP
0.116
2-ND
CYB5R1-
-
-
-
3GainND
CYP4F11-
-
-
-
1LossND
CYP4F12-
-
-
-
1LossND
CYP4F2-
-
-
-
1LossND
CYP4F22-
-
-
-
1LossND
CYP4F3-
-
-
-
1LossND
CYP4F8-
-
-
-
1LossND
DAND5-
-
-
-
1LossND
DAP3-
-
-
-
3GainND
DAPK3-
-
-
-
1LossND
DARS2-
-
-
-
3GainND
DAZAP1-
-
-
-
1LossND
DCAF1p.F372L
Missense
SNP
0.453
2-ND
DCAF10-
-
-
-
1LossND
DCAF12-
-
-
-
1LossND
DCAF15-
-
-
-
1LossND
DCAF6-
-
-
-
3GainND
DCAF8-
-
-
-
3GainND
DCST1-
-
-
-
3GainND
DCST2-
-
-
-
3GainND
DCTN3-
-
-
-
1LossND
DDA1-
-
-
-
1LossND
DDR2-
-
-
-
3GainND
DDX39A-
-
-
-
1LossND
DDX49-
-
-
-
1LossND
DDX58-
-
-
-
1LossND
DDX59-
-
-
-
3GainND
DEDD-
-
-
-
3GainND
DEGS1-
-
-
-
3GainND
DENND1B-
-
-
-
3GainND
DENND1C-
-
-
-
1LossND
DENND4B-
-
-
-
3GainND
DENND4C-
-
-
-
1LossND
DERL2p.R91L
Missense
SNP
0.635
2-ND
DESI2-
-
-
-
3GainND
DGAT2L6p.R271S
Missense
SNP
0.517
NDNDND
DHPS-
-
-
-
1LossND
DHX9-
-
-
-
3GainND
DIRAS1-
-
-
-
1LossND
DISC1-
-
-
-
3GainND
DISP1-
-
-
-
3GainND
DLGAP1-
-
-
-
1LossND
DLGAP2p.E275V
Missense
SNP
0.466
2-ND
DMAC1-
-
-
-
1LossND
DMPKp.T61P
Missense
SNP
0.117
2-ND
DMRT1-
-
-
-
1LossND
DMRT2-
-
-
-
1LossND
DMRT3-
-
-
-
1LossND
DMRTA1-
-
-
-
1LossND
DNAH14p.S107C
Missense
SNP
0.669
3GainND
DNAI1-
-
-
-
1LossND
DNAJA1-
-
-
-
1LossND
DNAJB1-
-
-
-
1LossND
DNAJB5-
-
-
-
1LossND
DNASE2-
-
-
-
1LossND
DNM2-
-
-
-
1LossND
DNM3-
-
-
-
3GainND
DNMT1-
-
-
-
1LossND
DOCK6-
-
-
-
1LossND
DOCK8-
-
-
-
1LossND
DOHH-
-
-
-
1LossND
DOT1L-
-
-
-
1LossND
DPEP1p.R110L
Missense
SNP
0.435
2-ND
DPM3-
-
-
-
3GainND
DPP6p.V706M
Missense
SNP
0.496
2-ND
DPP9-
-
-
-
1LossND
DPT-
-
-
-
3GainND
DSTYK-
-
-
-
3GainND
DTL-
-
-
-
3GainND
DUS3L-
-
-
-
1LossND
DUSP10-
-
-
-
3GainND
DUSP12-
-
-
-
3GainND
DUSP23-
-
-
-
3GainND
DUSP27-
-
-
-
3GainND
DYRK3-
-
-
-
3GainND
EBI3-
-
-
-
1LossND
ECM1-
-
-
-
3GainND
ECSIT-
-
-
-
1LossND
EDARADD-
-
-
-
3GainND
EDEM3-
-
-
-
3GainND
EEF2-
-
-
-
1LossND
EFCAB2-
-
-
-
3GainND
EFNA1-
-
-
-
3GainND
EFNA2-
-
-
-
1LossND
EFNA3-
-
-
-
3GainND
EFNA4-
-
-
-
3GainND
EGLN1-
-
-
-
3GainND
EIF2D-
-
-
-
3GainND
EIF3G-
-
-
-
1LossND
ELANE-
-
-
-
1LossND
ELAVL1-
-
-
-
1LossND
ELAVL2-
-
-
-
1LossND
ELAVL3-
-
-
-
1LossND
ELF3-
-
-
-
3GainND
ELK4-
-
-
-
3GainND
ELL-
-
-
-
1LossND
ELOF1-
-
-
-
1LossND
ELP5p.E170Q
Missense
SNP
0.434
2-ND
EMILIN2-
-
-
-
1LossND
ENAH-
-
-
-
3GainND
ENHO-
-
-
-
1LossND
ENOSF1-
-
-
-
1LossND
ENSA-
-
-
-
3GainND
EPB41L3-
-
-
-
1LossND
EPHX1-
-
-
-
3GainND
EPHX3-
-
-
-
1LossND
EPOR-
-
-
-
1LossND
EPRS-
-
-
-
3GainND
EPS15L1-
-
-
-
1LossND
EQTN-
-
-
-
1LossND
ERMP1-
-
-
-
1LossND
ERO1B-
-
-
-
3GainND
ESRRG-
-
-
-
3GainND
ETNK2-
-
-
-
3GainND
ETV3-
-
-
-
3GainND
ETV3L-
-
-
-
3GainND
EVI5L-
-
-
-
1LossND
EXO1-
-
-
-
3GainND
EXOC8-
-
-
-
3GainND
EXOSC10p.Q82*
Nonsense
SNP
0.495
2-ND
EXOSC3-
-
-
-
1LossND
EYSp.V451F
Missense
SNP
0.522
2-ND
F11R-
-
-
-
3GainND
F13B-
-
-
-
3GainND
F2Rp.N259I
Missense
SNP
0.518
2-ND
F2RL3-
-
-
-
1LossND
F5-
-
-
-
3GainND
FAM120Cp.W561C
Missense
SNP
0.327
NDNDND
FAM129A-
-
-
-
3GainND
FAM129C-
-
-
-
1LossND
FAM163A-
-
-
-
3GainND
FAM166B-
-
-
-
1LossND
FAM167Bp.G4A
Missense
SNP
0.451
2-ND
FAM177B-
-
-
-
3GainND
FAM189B-
-
-
-
3GainND
FAM205A-
-
-
-
1LossND
FAM20B-
-
-
-
3GainND
FAM210A-
-
-
-
1LossND
FAM214B-
-
-
-
1LossND
FAM219A-
-
-
-
1LossND
FAM221B-
-
-
-
1LossND
FAM32A-
-
-
-
1LossND
FAM71A-
-
-
-
3GainND
FAM78B-
-
-
-
3GainND
FAM89A-
-
-
-
3GainND
FANCG-
-
-
-
1LossND
FARSA-
-
-
-
1LossND
FASLG-
-
-
-
3GainND
FAT4p.T4968I
Missense
SNP
0.517
2-ND
FBN3-
-
-
-
1LossND
FBXL12-
-
-
-
1LossND
FBXO10-
-
-
-
1LossND
FBXO28-
-
-
-
3GainND
FBXW9-
-
-
-
1LossND
FCAMR-
-
-
-
3GainND
FCER1A-
-
-
-
3GainND
FCER1G-
-
-
-
3GainND
FCER2-
-
-
-
1LossND
FCGR2A-
-
-
-
3GainND
FCGR2B-
-
-
-
3GainND
FCGR2C-
-
-
-
3GainND
FCGR3A-
-
-
-
3GainND
FCGR3B-
-
-
-
3GainND
FCHO1-
-
-
-
1LossND
FCMR-
-
-
-
3GainND
FCRL1-
-
-
-
3GainND
FCRL2-
-
-
-
3GainND
FCRL3-
-
-
-
3GainND
FCRL4-
-
-
-
3GainND
FCRL5-
-
-
-
3GainND
FCRL6-
-
-
-
3GainND
FCRLA-
-
-
-
3GainND
FCRLB-
-
-
-
3GainND
FDPS-
-
-
-
3GainND
FDX2-
-
-
-
1LossND
FEM1A-
-
-
-
1LossND
FGF22-
-
-
-
1LossND
FH-
-
-
-
3GainND
FKBP8-
-
-
-
1LossND
FLAD1-
-
-
-
3GainND
FLG-
-
-
-
3GainND
FLG2-
-
-
-
3GainND
FLVCR1-
-
-
-
3GainND
FMN2-
-
-
-
3GainND
FMO1-
-
-
-
3GainND
FMO2-
-
-
-
3GainND
FMO3-
-
-
-
3GainND
FMO4-
-
-
-
3GainND
FMO5-
-
-
-
3GainND
FMOD-
-
-
-
3GainND
FOCAD-
-
-
-
1LossND
FOXD4L6-
-
-
-
1LossND
FREM1-
-
-
-
1LossND
FRMPD1-
-
-
-
1LossND
FSD1-
-
-
-
1LossND
FSTL3-
-
-
-
1LossND
FUT3-
-
-
-
1LossND
FUT5-
-
-
-
1LossND
FUT6-
-
-
-
1LossND
FZR1-
-
-
-
1LossND
G0S2-
-
-
-
3GainND
GABPB2-
-
-
-
3GainND
GADD45B-
-
-
-
1LossND
GADD45GIP1-
-
-
-
1LossND
GALNT2-
-
-
-
3GainND
GALT-
-
-
-
1LossND
GAMT-
-
-
-
1LossND
GATAD2A-
-
-
-
1LossND
GATAD2B-
-
-
-
3GainND
GBA-
-
-
-
3GainND
GBA2-
-
-
-
1LossND
GCDH-
-
-
-
1LossND
GCSAML-
-
-
-
3GainND
GCSAML-AS1-
-
-
-
3GainND
GDF1-
-
-
-
1LossND
GDF15-
-
-
-
1LossND
GDF2p.H278N
Missense
SNP
0.459
2-ND
GFOD2p.R192L
Missense
SNP
0.498
2-ND
GGPS1-
-
-
-
3GainND
GIMAP6p.L113I
Missense
SNP
0.515
2-ND
GIPC1-
-
-
-
1LossND
GIPC3-
-
-
-
1LossND
GJA5-
-
-
-
3GainND
GJA8-
-
-
-
3GainND
GJC2-
-
-
-
3GainND
GLDC-
-
-
-
1LossND
GLIPR2-
-
-
-
1LossND
GLIS3-
-
-
-
1LossND
GLMP-
-
-
-
3GainND
GLRX2-
-
-
-
3GainND
GLUL-
-
-
-
3GainND
GMIP-
-
-
-
1LossND
GNA11-
-
-
-
1LossND
GNA15-
-
-
-
1LossND
GNAL-
-
-
-
1LossND
GNE-
-
-
-
1LossND
GNG14-
-
-
-
1LossND
GNG4-
-
-
-
3GainND
GNG7-
-
-
-
1LossND
GNPATp.E547*
Nonsense
SNP
0.059
3GainND
GOLPH3L-
-
-
-
3GainND
GOLT1A-
-
-
-
3GainND
GON4L-
-
-
-
3GainND
GORAB-
-
-
-
3GainND
GPA33-
-
-
-
3GainND
GPATCH2-
-
-
-
3GainND
GPATCH4-
-
-
-
3GainND
GPR108-
-
-
-
1LossND
GPR137B-
-
-
-
3GainND
GPR161-
-
-
-
3GainND
GPR25-
-
-
-
3GainND
GPR37L1-
-
-
-
3GainND
GPR52-
-
-
-
3GainND
GPR89A-
-
-
-
3GainND
GPR89B-
-
-
-
3GainND
GPX4-
-
-
-
1LossND
GREM2-
-
-
-
3GainND
GRHPR-
-
-
-
1LossND
GRID2IPp.E1001Q
Missense
SNP
0.474
2-ND
GRIN3B-
-
-
-
1LossND
GTF2F1-
-
-
-
1LossND
GTPBP3-
-
-
-
1LossND
GUK1-
-
-
-
3GainND
GZMM-
-
-
-
1LossND
H3F3A-
-
-
-
3GainND
HACD4-
-
-
-
1LossND
HAPLN2-
-
-
-
3GainND
HAPLN4p.A184T
Missense
SNP
0.896
1LossND
HAUS6-
-
-
-
1LossND
HAUS8-
-
-
-
1LossND
HAX1-
-
-
-
3GainND
HCN2-
-
-
-
1LossND
HCN3-
-
-
-
3GainND
HCRTp.A60T
Missense
SNP
0.428
2-ND
HDGF-
-
-
-
3GainND
HDGFL2-
-
-
-
1LossND
HEATR1-
-
-
-
3GainND
HEXIM1p.R351Q
Missense
SNP
0.683
2-ND
HHAT-
-
-
-
3GainND
HHIPL2-
-
-
-
3GainND
HINT2-
-
-
-
1LossND
HIST2H2AA3-
-
-
-
3GainND
HIST2H2AA4-
-
-
-
3GainND
HIST2H2AB-
-
-
-
3GainND
HIST2H2AC-
-
-
-
3GainND
HIST2H2BE-
-
-
-
3GainND
HIST2H2BF-
-
-
-
3GainND
HIST2H3A-
-
-
-
3GainND
HIST2H3C-
-
-
-
3GainND
HIST2H3D-
-
-
-
3GainND
HIST2H3PS2-
-
-
-
3GainND
HIST2H4A-
-
-
-
3GainND
HIST2H4B-
-
-
-
3GainND
HIST3H2A-
-
-
-
3GainND
HIST3H2BB-
-
-
-
3GainND
HIST3H3-
-
-
-
3GainND
HJV-
-
-
-
3GainND
HKR1p.G505V
Missense
SNP
0.423
2-ND
HLX-
-
-
-
3GainND
HMCN1-
-
-
-
3GainND
HMG20B-
-
-
-
1LossND
HNRNPM-
-
-
-
1LossND
HNRNPU-
-
-
-
3GainND
HOMER3-
-
-
-
1LossND
HOOK2-
-
-
-
1LossND
HORMAD1-
-
-
-
3GainND
HOXC4-
-
-
-
0DelND
HOXC5-
-
-
-
0DelND
HOXC6-
-
-
-
0DelND
HOXC8-
-
-
-
0DelND
HOXC9-
-
-
-
0DelND
HRCT1-
-
-
-
1LossND
HRNR-
-
-
-
3GainND
HSD11B1-
-
-
-
3GainND
HSD11B1L-
-
-
-
1LossND
HSD17B7-
-
-
-
3GainND
HSH2D-
-
-
-
1LossND
HSPA2p.R472G
Missense
SNP
0.319
2-ND
HSPA6-
-
-
-
3GainND
IARS2-
-
-
-
3GainND
IBA57-
-
-
-
3GainND
ICAM1-
-
-
-
1LossND
ICAM3-
-
-
-
1LossND
ICAM4-
-
-
-
1LossND
ICAM5-
-
-
-
1LossND
IER2-
-
-
-
1LossND
IER5-
-
-
-
3GainND
IFI16-
-
-
-
3GainND
IFI30-
-
-
-
1LossND
IFNA14-
-
-
-
1LossND
IFNA2-
-
-
-
1LossND
IFNA21-
-
-
-
1LossND
IFNA5-
-
-
-
1LossND
IFNA6-
-
-
-
1LossND
IFNA8-
-
-
-
1LossND
IFNB1-
-
-
-
1LossND
IFNE-
-
-
-
1LossND
IFNK-
-
-
-
1LossND
IFNW1-
-
-
-
1LossND
IFT74-
-
-
-
1LossND
IGFBPL1-
-
-
-
1LossND
IGFN1-
-
-
-
3GainND
IGHMBP2p.E500K
Missense
SNP
0.503
2-ND
IGSF8-
-
-
-
3GainND
IGSF9-
-
-
-
3GainND
IKBKE-
-
-
-
3GainND
IL10-
-
-
-
3GainND
IL11RA-
-
-
-
1LossND
IL12RB1-
-
-
-
1LossND
IL19-
-
-
-
3GainND
IL20-
-
-
-
3GainND
IL23Rp.G300S
Missense
SNP
0.480
2-ND
IL24-
-
-
-
3GainND
IL27RA-
-
-
-
1LossND
IL33-
-
-
-
1LossND
IL6R-
-
-
-
3GainND
ILDR2-
-
-
-
3GainND
ILF2-
-
-
-
3GainND
ILF3-
-
-
-
1LossND
ILVBL-
-
-
-
1LossND
IMPA2-
-
-
-
1LossND
INAVA-
-
-
-
3GainND
INSL3-
-
-
-
1LossND
INSL4-
-
-
-
1LossND
INSL6-
-
-
-
1LossND
INSR-
-
-
-
1LossND
INSRR-
-
-
-
3GainND
INTS3-
-
-
-
3GainND
INTS7-
-
-
-
3GainND
IPO9-
-
-
-
3GainND
IQCN-
-
-
-
1LossND
IQGAP3-
-
-
-
3GainND
IRF2BP2-
-
-
-
3GainND
IRF6-
-
-
-
3GainND
ISG20L2-
-
-
-
3GainND
ISYNA1-
-
-
-
1LossND
ITGA10-
-
-
-
3GainND
ITLN1-
-
-
-
3GainND
ITLN2-
-
-
-
3GainND
ITPKBp.T449M
Missense
SNP
0.679
3GainND
IVL-
-
-
-
3GainND
IVNS1ABP-
-
-
-
3GainND
IZUMO3-
-
-
-
1LossND
IZUMO4-
-
-
-
1LossND
JAK2p.R564*
Nonsense
SNP
0.194
1LossND
JAK3-
-
-
-
1LossND
JMJD4-
-
-
-
3GainND
JSRP1-
-
-
-
1LossND
JTB-
-
-
-
3GainND
JUNB-
-
-
-
1LossND
JUND-
-
-
-
1LossND
KANK1-
-
-
-
1LossND
KANK2-
-
-
-
1LossND
KANK3-
-
-
-
1LossND
KAT8p.G49S
Missense
SNP
0.552
2-ND
KCNH1-
-
-
-
3GainND
KCNJ10-
-
-
-
3GainND
KCNJ9-
-
-
-
3GainND
KCNK1-
-
-
-
3GainND
KCNK2-
-
-
-
3GainND
KCNN1-
-
-
-
1LossND
KCNN3-
-
-
-
3GainND
KCNT2-
-
-
-
3GainND
KCNV2-
-
-
-
1LossND
KCTD3-
-
-
-
3GainND
KDM4B-
-
-
-
1LossND
KDM4C-
-
-
-
1LossND
KDM5B-
-
-
-
3GainND
KEAP1p.K216Nfs*14
Frame_Shift_Del
DEL
0.925
1LossND
KHDC4-
-
-
-
3GainND
KHSRP-
-
-
-
1LossND
KIAA0040-
-
-
-
3GainND
KIAA1211p.S155N
Missense
SNP
0.445
2-ND
KIAA1614-
-
-
-
3GainND
KIAA2026-
-
-
-
1LossND
KIF14-
-
-
-
3GainND
KIF1Bp.Q1108E
Missense
SNP
0.543
2-ND
KIF21B-
-
-
-
3GainND
KIF24-
-
-
-
1LossND
KIF26B-
-
-
-
3GainND
KIF4Bp.R1029H
Missense
SNP
0.430
2-ND
KIF6p.S444C
Missense
SNP
0.484
2-ND
KIFAP3-
-
-
-
3GainND
KIR2DS4p.T185M
Missense
SNP
0.062
NDNDND
KIRREL1-
-
-
-
3GainND
KISS1-
-
-
-
3GainND
KISS1R-
-
-
-
1LossND
KLF1-
-
-
-
1LossND
KLF12p.A150V
Missense
SNP
0.475
2-ND
KLF16-
-
-
-
1LossND
KLF2-
-
-
-
1LossND
KLHDC8A-
-
-
-
3GainND
KLHDC9-
-
-
-
3GainND
KLHL12-
-
-
-
3GainND
KLHL20-
-
-
-
3GainND
KLHL26-
-
-
-
1LossND
KLHL9-
-
-
-
1LossND
KMO-
-
-
-
3GainND
KNG1p.K35E
Missense
SNP
0.495
2-ND
KPRP-
-
-
-
3GainND
KRI1-
-
-
-
1LossND
KRTCAP2-
-
-
-
3GainND
KXD1-
-
-
-
1LossND
L3MBTL4-
-
-
-
1LossND
LAD1-
-
-
-
3GainND
LAMA1-
-
-
-
1LossND
LAMB1p.R1647S
Missense
SNP
0.354
2-ND
LAMB3-
-
-
-
3GainND
LAMC1-
-
-
-
3GainND
LAMC2-
-
-
-
3GainND
LAMTOR2-
-
-
-
3GainND
LAX1-
-
-
-
3GainND
LBR-
-
-
-
3GainND
LCE2A-
-
-
-
3GainND
LCE2B-
-
-
-
3GainND
LCE3A-
-
-
-
3GainND
LCE3C-
-
-
-
3GainND
LCE3D-
-
-
-
3GainND
LCE3E-
-
-
-
3GainND
LCE4A-
-
-
-
3GainND
LCE5A-
-
-
-
3GainND
LCE6A-
-
-
-
3GainND
LDLR-
-
-
-
1LossND
LDLRAD4-
-
-
-
1LossND
LEF1p.S109W
Missense
SNP
0.412
2-ND
LEFTY1-
-
-
-
3GainND
LEFTY2-
-
-
-
3GainND
LELP1-
-
-
-
3GainND
LEMD1-
-
-
-
3GainND
LENEP-
-
-
-
3GainND
LGALS8-
-
-
-
3GainND
LGR6-
-
-
-
3GainND
LHX4-
-
-
-
3GainND
LHX8p.A325E
Missense
SNP
0.411
2-ND
LHX9-
-
-
-
3GainND
LIFRp.R302H
Missense
SNP
0.121
2-ND
LIN9-
-
-
-
3GainND
LINGO1p.D52V
Missense
SNP
0.502
2-ND
LINGO2-
-
-
-
1LossND
LINGO3-
-
-
-
1LossND
LINGO4-
-
-
-
3GainND
LIX1L-
-
-
-
3GainND
LMNA-
-
-
-
3GainND
LMNB2-
-
-
-
1LossND
LMOD1-
-
-
-
3GainND
LMX1A-
-
-
-
3GainND
LONP1-
-
-
-
1LossND
LOR-
-
-
-
3GainND
LPAR2-
-
-
-
1LossND
LPGAT1-
-
-
-
3GainND
LPIN2-
-
-
-
1LossND
LRG1-
-
-
-
1LossND
LRP1p.W1252L
Missense
SNP
0.478
2-ND
LRP1Bp.X148_splice
Splice_Site
SNP
0.576
2-ND
LRRC19-
-
-
-
1LossND
LRRC25-
-
-
-
1LossND
LRRC30-
-
-
-
1LossND
LRRC52-
-
-
-
3GainND
LRRC71-
-
-
-
3GainND
LRRC8E-
-
-
-
1LossND
LRRK1p.Y1258F
Missense
SNP
0.429
2-ND
LRRN2-
-
-
-
3GainND
LSM4-
-
-
-
1LossND
LSM7-
-
-
-
1LossND
LURAP1L-
-
-
-
1LossND
LY9-
-
-
-
3GainND
LYL1-
-
-
-
1LossND
LYPD8-
-
-
-
3GainND
LYPLAL1-
-
-
-
3GainND
LYSMD1-
-
-
-
3GainND
LYST-
-
-
-
3GainND
MADCAM1-
-
-
-
1LossND
MAEL-
-
-
-
3GainND
MAML2p.Q532*
Nonsense
SNP
0.446
2-ND
MAN2B1-
-
-
-
1LossND
MAP10-
-
-
-
3GainND
MAP1LC3C-
-
-
-
3GainND
MAP1S-
-
-
-
1LossND
MAP2K2-
-
-
-
1LossND
MAP2K7p.E232K
Missense
SNP
0.903
1LossND
MAP3K21-
-
-
-
3GainND
MAPKAPK2-
-
-
-
3GainND
MARC1-
-
-
-
3GainND
MARC2-
-
-
-
3GainND
MARCH2-
-
-
-
1LossND
MARK1-
-
-
-
3GainND
MAST1-
-
-
-
1LossND
MAST3-
-
-
-
1LossND
MATK-
-
-
-
1LossND
MAU2-
-
-
-
1LossND
MBD3-
-
-
-
1LossND
MBD3L1-
-
-
-
1LossND
MC2R-
-
-
-
1LossND
MC5R-
-
-
-
1LossND
MCEMP1-
-
-
-
1LossND
MCL1-
-
-
-
3GainND
MCOLN1-
-
-
-
1LossND
MDM2p.E302Q
Missense
SNP
0.581
2-ND
MDM4-
-
-
-
3GainND
MED16-
-
-
-
1LossND
MED26-
-
-
-
1LossND
MEF2B-
-
-
-
1LossND
MEF2D-
-
-
-
3GainND
MEGF8p.G1431V
Missense
SNP
0.453
2-ND
MELK-
-
-
-
1LossND
METTL11B-
-
-
-
3GainND
METTL13-
-
-
-
3GainND
METTL18-
-
-
-
3GainND
METTL4-
-
-
-
1LossND
MEX3A-
-
-
-
3GainND
MEX3D-
-
-
-
1LossND
MFSD12-
-
-
-
1LossND
MFSD4Ap.Q204H
Missense
SNP
0.061
3GainND
MGAp.M501I
Missense
SNP
0.453
2-ND
MGST3-
-
-
-
3GainND
MIA3-
-
-
-
3GainND
MID1p.L607M
Missense
SNP
0.333
NDNDND
MIDN-
-
-
-
1LossND
MIER2-
-
-
-
1LossND
MINDY1-
-
-
-
3GainND
MISP-
-
-
-
1LossND
MISP3-
-
-
-
1LossND
MIXL1-
-
-
-
3GainND
MKNK2-
-
-
-
1LossND
MLANA-
-
-
-
1LossND
MLLT1-
-
-
-
1LossND
MLLT11-
-
-
-
3GainND
MLLT3-
-
-
-
1LossND
MN1p.R21M
Missense
SNP
0.495
2-ND
MNDA-
-
-
-
3GainND
MOB3A-
-
-
-
1LossND
MOB3B-
-
-
-
1LossND
MOXD1p.W276C
Missense
SNP
0.427
2-ND
MPC2-
-
-
-
3GainND
MPDZ-
-
-
-
1LossND
MPND-
-
-
-
1LossND
MPPE1-
-
-
-
1LossND
MPV17L2-
-
-
-
1LossND
MPZ-
-
-
-
3GainND
MPZL1-
-
-
-
3GainND
MR1-
-
-
-
3GainND
MRI1-
-
-
-
1LossND
MROH9-
-
-
-
3GainND
MRPL24-
-
-
-
3GainND
MRPL34-
-
-
-
1LossND
MRPL4-
-
-
-
1LossND
MRPL54-
-
-
-
1LossND
MRPL55-
-
-
-
3GainND
MRPL9-
-
-
-
3GainND
MRPS14-
-
-
-
3GainND
MRPS21-
-
-
-
3GainND
MSMP-
-
-
-
1LossND
MSTO1-
-
-
-
3GainND
MTAP-
-
-
-
1LossND
MTCL1-
-
-
-
1LossND
MTMR11-
-
-
-
3GainND
MTR-
-
-
-
3GainND
MTX1-
-
-
-
3GainND
MUC1-
-
-
-
3GainND
MUC16-
-
-
-
1LossND
MUC5ACp.C5270Y
Missense
SNP
0.515
2-ND
MUM1-
-
-
-
1LossND
MVB12A-
-
-
-
1LossND
MYBPH-
-
-
-
3GainND
MYDGF-
-
-
-
1LossND
MYH15p.E918G
Missense
SNP
0.467
2-ND
MYH9p.R930C
Missense
SNP
0.603
2-ND
MYL12A-
-
-
-
1LossND
MYL12B-
-
-
-
1LossND
MYO1F-
-
-
-
1LossND
MYO9B-
-
-
-
1LossND
MYOC-
-
-
-
3GainND
MYOCOS-
-
-
-
3GainND
MYOG-
-
-
-
3GainND
MYOM1-
-
-
-
1LossND
MYORG-
-
-
-
1LossND
NACC1-
-
-
-
1LossND
NAIPp.F120I
Missense
SNP
0.489
2-ND
NANOS3-
-
-
-
1LossND
NAPG-
-
-
-
1LossND
NAV1-
-
-
-
3GainND
NAV2p.R2305L
Missense
SNP
0.530
2-ND
NAXE-
-
-
-
3GainND
NBPF11-
-
-
-
3GainND
NBPF15-
-
-
-
3GainND
NBPF19-
-
-
-
3GainND
NBPF9-
-
-
-
3GainND
NCAN-
-
-
-
1LossND
NCF2-
-
-
-
3GainND
NCLN-
-
-
-
1LossND
NCSTN-
-
-
-
3GainND
NDC80-
-
-
-
1LossND
NDUFA11-
-
-
-
1LossND
NDUFA13-
-
-
-
1LossND
NDUFA7-
-
-
-
1LossND
NDUFB6-
-
-
-
1LossND
NDUFB7-
-
-
-
1LossND
NDUFS1p.D595V
Missense
SNP
0.457
2-ND
NDUFS2-
-
-
-
3GainND
NDUFS7-
-
-
-
1LossND
NDUFV2-
-
-
-
1LossND
NECTIN4-
-
-
-
3GainND
NEK2-
-
-
-
3GainND
NEK7-
-
-
-
3GainND
NENF-
-
-
-
3GainND
NES-
-
-
-
3GainND
NFASCp.T965N
Missense
SNP
0.072
3GainND
NFATC2p.R843K
Missense
SNP
0.488
2-ND
NFIB-
-
-
-
1LossND
NFIC-
-
-
-
1LossND
NFIX-
-
-
-
1LossND
NFX1-
-
-
-
1LossND
NHLH1-
-
-
-
3GainND
NID1-
-
-
-
3GainND
NIT1-
-
-
-
3GainND
NLRP3-
-
-
-
3GainND
NME7-
-
-
-
3GainND
NMNAT2-
-
-
-
3GainND
NMRK2-
-
-
-
1LossND
NOL6-
-
-
-
1LossND
NOS1AP-
-
-
-
3GainND
NOTCH3-
-
-
-
1LossND
NPHS2-
-
-
-
3GainND
NPL-
-
-
-
3GainND
NPR1-
-
-
-
3GainND
NPR2-
-
-
-
1LossND
NR1I3-
-
-
-
3GainND
NR2C2AP-
-
-
-
1LossND
NR2F6-
-
-
-
1LossND
NR5A2-
-
-
-
3GainND
NRTN-
-
-
-
1LossND
NSL1-
-
-
-
3GainND
NSMCE3p.S30L
Missense
SNP
0.498
2-ND
NTPCR-
-
-
-
3GainND
NTRK1-
-
-
-
3GainND
NUAK2-
-
-
-
3GainND
NUCKS1-
-
-
-
3GainND
NUDT17-
-
-
-
3GainND
NUDT2-
-
-
-
1LossND
NUDT4B-
-
-
-
3GainND
NUF2-
-
-
-
3GainND
NUP133-
-
-
-
3GainND
NUP210L-
-
-
-
3GainND
NVL-
-
-
-
3GainND
NWD1-
-
-
-
1LossND
NXNL1-
-
-
-
1LossND
OAZ1-
-
-
-
1LossND
OAZ3-
-
-
-
3GainND
OBSCNp.Q5431K
Missense
SNP
0.228
3GainND
OCA2p.G146C
Missense
SNP
0.449
2-ND
OCEL1-
-
-
-
1LossND
OCLM-
-
-
-
3GainND
ODF3L2-
-
-
-
1LossND
ODR4-
-
-
-
3GainND
OLFM2-
-
-
-
1LossND
OLFML2B-
-
-
-
3GainND
ONECUT3-
-
-
-
1LossND
OPN3-
-
-
-
3GainND
OPTC-
-
-
-
3GainND
OR10G9p.V218E
Missense
SNP
0.489
2-ND
OR10H1-
-
-
-
1LossND
OR10H2-
-
-
-
1LossND
OR10H3-
-
-
-
1LossND
OR10H4-
-
-
-
1LossND
OR10H5-
-
-
-
1LossND
OR10J1-
-
-
-
3GainND
OR10J3-
-
-
-
3GainND
OR10J5-
-
-
-
3GainND
OR10K1-
-
-
-
3GainND
OR10K2-
-
-
-
3GainND
OR10R2-
-
-
-
3GainND
OR10T2-
-
-
-
3GainND
OR10X1-
-
-
-
3GainND
OR10Z1-
-
-
-
3GainND
OR11L1-
-
-
-
3GainND
OR13G1-
-
-
-
3GainND
OR13J1-
-
-
-
1LossND
OR14A16-
-
-
-
3GainND
OR14A2-
-
-
-
3GainND
OR14C36-
-
-
-
3GainND
OR14I1-
-
-
-
3GainND
OR14K1-
-
-
-
3GainND
OR1C1-
-
-
-
3GainND
OR1I1-
-
-
-
1LossND
OR1M1-
-
-
-
1LossND
OR2AJ1-
-
-
-
3GainND
OR2AK2-
-
-
-
3GainND
OR2B11-
-
-
-
3GainND
OR2C3-
-
-
-
3GainND
OR2G2-
-
-
-
3GainND
OR2G3-
-
-
-
3GainND
OR2G6-
-
-
-
3GainND
OR2L13-
-
-
-
3GainND
OR2L2-
-
-
-
3GainND
OR2L5-
-
-
-
3GainND
OR2M2-
-
-
-
3GainND
OR2M4p.R235H
Missense
SNP
0.291
3GainND
OR2S2-
-
-
-
1LossND
OR2T1-
-
-
-
3GainND
OR2T10-
-
-
-
3GainND
OR2T11-
-
-
-
3GainND
OR2T2-
-
-
-
3GainND
OR2T27-
-
-
-
3GainND
OR2T29-
-
-
-
3GainND
OR2T3-
-
-
-
3GainND
OR2T34-
-
-
-
3GainND
OR2T4-
-
-
-
3GainND
OR2T5-
-
-
-
3GainND
OR2T6-
-
-
-
3GainND
OR2T8-
-
-
-
3GainND
OR2W3-
-
-
-
3GainND
OR2Z1-
-
-
-
1LossND
OR51V1p.P293A
Missense
SNP
0.512
2-ND
OR5D16p.N66T
Missense
SNP
0.097
2-ND
OR6C76p.M57Cfs*23
Frame_Shift_Del
DEL
0.429
2-ND
OR6F1-
-
-
-
3GainND
OR6K2-
-
-
-
3GainND
OR6K3-
-
-
-
3GainND
OR6K6-
-
-
-
3GainND
OR6N1-
-
-
-
3GainND
OR6N2-
-
-
-
3GainND
OR6P1-
-
-
-
3GainND
OR6Y1-
-
-
-
3GainND
OR7A10-
-
-
-
1LossND
OR7A17-
-
-
-
1LossND
OR7A5-
-
-
-
1LossND
OR7C1-
-
-
-
1LossND
OR7C2-
-
-
-
1LossND
OR7D2-
-
-
-
1LossND
OR7D4-
-
-
-
1LossND
OR7E24-
-
-
-
1LossND
OR7G1-
-
-
-
1LossND
OR7G2-
-
-
-
1LossND
OR7G3-
-
-
-
1LossND
OR8H2p.D155G
Missense
SNP
0.478
2-ND
OTUD7Bp.H298P
Missense
SNP
0.360
3GainND
PALM-
-
-
-
1LossND
PALM3-
-
-
-
1LossND
PAPPA2-
-
-
-
3GainND
PAQR6-
-
-
-
3GainND
PARP1-
-
-
-
3GainND
PAX3p.Q487*
Nonsense
SNP
0.500
2-ND
PAX5-
-
-
-
1LossND
PBX1-
-
-
-
3GainND
PBX4-
-
-
-
1LossND
PBXIP1-
-
-
-
3GainND
PCDH15p.A746S
Missense
SNP
0.495
2-ND
PCDHA1p.A592E
Missense
SNP
0.418
2-ND
PCNX2p.P1068A
Missense
SNP
0.309
3GainND
PCP2-
-
-
-
1LossND
PCP4L1-
-
-
-
3GainND
PCSK4-
-
-
-
1LossND
PDC-
-
-
-
3GainND
PDCD1LG2-
-
-
-
1LossND
PDE4A-
-
-
-
1LossND
PDE4C-
-
-
-
1LossND
PDE4DIP-
-
-
-
3GainND
PDZK1-
-
-
-
3GainND
PEA15-
-
-
-
3GainND
PEAK3-
-
-
-
1LossND
PEAR1-
-
-
-
3GainND
PET100-
-
-
-
1LossND
PEX11B-
-
-
-
3GainND
PEX11G-
-
-
-
1LossND
PEX19-
-
-
-
3GainND
PFDN2-
-
-
-
3GainND
PFKFB2-
-
-
-
3GainND
PGBD2-
-
-
-
3GainND
PGBD5-
-
-
-
3GainND
PGLS-
-
-
-
1LossND
PGLYRP2-
-
-
-
1LossND
PGLYRP3-
-
-
-
3GainND
PGLYRP4-
-
-
-
3GainND
PGPEP1-
-
-
-
1LossND
PHF24-
-
-
-
1LossND
PHLDA3-
-
-
-
3GainND
PI4KB-
-
-
-
3GainND
PIAS3-
-
-
-
3GainND
PIAS4-
-
-
-
1LossND
PIEZO2-
-
-
-
1LossND
PIGC-
-
-
-
3GainND
PIGM-
-
-
-
3GainND
PIGO-
-
-
-
1LossND
PIGR-
-
-
-
3GainND
PIK3C2Ap.G1140V
Missense
SNP
0.538
2-ND
PIK3C2B-
-
-
-
3GainND
PIK3C2Gp.V496I
Missense
SNP
0.494
2-ND
PIK3R2-
-
-
-
1LossND
PIN1-
-
-
-
1LossND
PIP5K1A-
-
-
-
3GainND
PIP5K1C-
-
-
-
1LossND
PITRM1p.T848S
p.Q8H
Missense
Missense
SNP
SNP
0.498
0.520
2-ND
PKLR-
-
-
-
3GainND
PKN1-
-
-
-
1LossND
PKP1-
-
-
-
3GainND
PLA2G4A-
-
-
-
3GainND
PLAA-
-
-
-
1LossND
PLD5-
-
-
-
3GainND
PLEKHA6-
-
-
-
3GainND
PLEKHJ1-
-
-
-
1LossND
PLEKHO1-
-
-
-
3GainND
PLGRKT-
-
-
-
1LossND
PLIN2-
-
-
-
1LossND
PLIN3-
-
-
-
1LossND
PLIN4-
-
-
-
1LossND
PLIN5-
-
-
-
1LossND
PLK5-
-
-
-
1LossND
PLOD2p.E234K
Missense
SNP
0.500
2-ND
PLPP2-
-
-
-
1LossND
PLPP4p.C180F
Missense
SNP
0.484
2-ND
PLPP6-
-
-
-
1LossND
PLPPR2-
-
-
-
1LossND
PLPPR3-
-
-
-
1LossND
PLVAP-
-
-
-
1LossND
PLXNA2-
-
-
-
3GainND
PM20D1-
-
-
-
3GainND
PMF1-
-
-
-
3GainND
PMF1-BGLAP-
-
-
-
3GainND
PMS1p.I857V
Missense
SNP
0.400
2-ND
PMVK-
-
-
-
3GainND
PNPLA5p.G169V
Missense
SNP
0.552
2-ND
PNPLA6-
-
-
-
1LossND
PODNL1-
-
-
-
1LossND
POGK-
-
-
-
3GainND
POGZ-
-
-
-
3GainND
POLR1E-
-
-
-
1LossND
POLR2E-
-
-
-
1LossND
POLR3C-
-
-
-
3GainND
POLR3GL-
-
-
-
3GainND
POLRMT-
-
-
-
1LossND
PORCNp.P216T
Missense
SNP
0.374
NDNDND
POU2F1-
-
-
-
3GainND
PPAN-
-
-
-
1LossND
PPAN-P2RY11-
-
-
-
1LossND
PPFIA4-
-
-
-
3GainND
PPOX-
-
-
-
3GainND
PPP1R12B-
-
-
-
3GainND
PPP1R15B-
-
-
-
3GainND
PPP2R5A-
-
-
-
3GainND
PPP4R1-
-
-
-
1LossND
PRAM1-
-
-
-
1LossND
PRCC-
-
-
-
3GainND
PRDM8p.Q111K
Missense
SNP
0.507
2-ND
PRDX2-
-
-
-
1LossND
PRDX6-
-
-
-
3GainND
PRELID3A-
-
-
-
1LossND
PRELP-
-
-
-
3GainND
PRG4-
-
-
-
3GainND
PRKAB2-
-
-
-
3GainND
PRKACA-
-
-
-
1LossND
PRKCDp.P512S
Missense
SNP
0.377
2-ND
PRKCSH-
-
-
-
1LossND
PROX1-
-
-
-
3GainND
PRPF3-
-
-
-
3GainND
PRR22-
-
-
-
1LossND
PRR36-
-
-
-
1LossND
PRR9-
-
-
-
3GainND
PRRC2C-
-
-
-
3GainND
PRRX1-
-
-
-
3GainND
PRSS16p.W18L
Missense
SNP
0.492
2-ND
PRSS3-
-
-
-
1LossND
PRSS38-
-
-
-
3GainND
PRSS57-
-
-
-
1LossND
PRTN3-
-
-
-
1LossND
PRUNE1-
-
-
-
3GainND
PSEN2-
-
-
-
3GainND
PSIP1-
-
-
-
1LossND
PSMB4-
-
-
-
3GainND
PSMD4-
-
-
-
3GainND
PSMG2-
-
-
-
1LossND
PSPN-
-
-
-
1LossND
PTBP1-
-
-
-
1LossND
PTGER1-
-
-
-
1LossND
PTGS2-
-
-
-
3GainND
PTPN14-
-
-
-
3GainND
PTPN2-
-
-
-
1LossND
PTPN7-
-
-
-
3GainND
PTPRC-
-
-
-
3GainND
PTPRD-
-
-
-
1LossND
PTPRM-
-
-
-
1LossND
PTPRS-
-
-
-
1LossND
PUM3-
-
-
-
1LossND
PYCR2-
-
-
-
3GainND
PYGO2-
-
-
-
3GainND
PYHIN1-
-
-
-
3GainND
QSOX1-
-
-
-
3GainND
QTRT1-
-
-
-
1LossND
R3HDM4-
-
-
-
1LossND
RAB11B-
-
-
-
1LossND
RAB12-
-
-
-
1LossND
RAB13-
-
-
-
3GainND
RAB25-
-
-
-
3GainND
RAB29-
-
-
-
3GainND
RAB31-
-
-
-
1LossND
RAB3A-
-
-
-
1LossND
RAB3D-
-
-
-
1LossND
RAB3GAP2-
-
-
-
3GainND
RAB4A-
-
-
-
3GainND
RAB8A-
-
-
-
1LossND
RABGAP1L-
-
-
-
3GainND
RABIF-
-
-
-
3GainND
RAD23A-
-
-
-
1LossND
RALBP1-
-
-
-
1LossND
RALGPS2-
-
-
-
3GainND
RANBP3-
-
-
-
1LossND
RANBP6-
-
-
-
1LossND
RARBp.S70Y
Missense
SNP
0.491
2-ND
RASAL2-
-
-
-
3GainND
RASAL3-
-
-
-
1LossND
RASSF5-
-
-
-
3GainND
RAVER1-
-
-
-
1LossND
RAX2-
-
-
-
1LossND
RBBP5-
-
-
-
3GainND
RBM34-
-
-
-
3GainND
RBM8A-
-
-
-
3GainND
RBPJLp.S10*
p.E490K
Nonsense
Missense
SNP
SNP
0.404
0.488
2-ND
RC3H1-
-
-
-
3GainND
RCL1-
-
-
-
1LossND
RCOR3-
-
-
-
3GainND
RCSD1-
-
-
-
3GainND
RD3-
-
-
-
3GainND
RDH8-
-
-
-
1LossND
RECK-
-
-
-
1LossND
REEP6-
-
-
-
1LossND
REN-
-
-
-
3GainND
RETN-
-
-
-
1LossND
REX1BD-
-
-
-
1LossND
REXO1-
-
-
-
1LossND
RFX1-
-
-
-
1LossND
RFX2-
-
-
-
1LossND
RFX3-
-
-
-
1LossND
RFX5-
-
-
-
3GainND
RFXANK-
-
-
-
1LossND
RGL1-
-
-
-
3GainND
RGL3-
-
-
-
1LossND
RGP1-
-
-
-
1LossND
RGS1-
-
-
-
3GainND
RGS13-
-
-
-
3GainND
RGS16-
-
-
-
3GainND
RGS18-
-
-
-
3GainND
RGS2-
-
-
-
3GainND
RGS21-
-
-
-
3GainND
RGS4-
-
-
-
3GainND
RGS5-
-
-
-
3GainND
RGS7-
-
-
-
3GainND
RGS8-
-
-
-
3GainND
RGSL1-
-
-
-
3GainND
RHBG-
-
-
-
3GainND
RHEX-
-
-
-
3GainND
RHOU-
-
-
-
3GainND
RIC1-
-
-
-
1LossND
RIIAD1-
-
-
-
3GainND
RIMBP2p.N333K
Missense
SNP
0.479
2-ND
RIT1-
-
-
-
3GainND
RLN1-
-
-
-
1LossND
RLN2-
-
-
-
1LossND
RLN3-
-
-
-
1LossND
RNASEH2A-
-
-
-
1LossND
RNASEL-
-
-
-
3GainND
RNF115-
-
-
-
3GainND
RNF126-
-
-
-
1LossND
RNF187-
-
-
-
3GainND
RNF2-
-
-
-
3GainND
RNF38-
-
-
-
1LossND
RNMT-
-
-
-
1LossND
RNPEP-
-
-
-
3GainND
ROCK2p.E617K
Missense
SNP
0.659
2-ND
RORC-
-
-
-
3GainND
RP11-294C11.1p.C242F
Missense
SNP
0.276
NDNDND
RP11-566K11.2p.S387L
Missense
SNP
0.482
NDNDND
RP2p.P190L
Missense
SNP
0.537
NDNDND
RPL18A-
-
-
-
1LossND
RPL36-
-
-
-
1LossND
RPP25L-
-
-
-
1LossND
RPRD2-
-
-
-
3GainND
RPS15-
-
-
-
1LossND
RPS27-
-
-
-
3GainND
RPS28-
-
-
-
1LossND
RPS6-
-
-
-
1LossND
RPS6KC1-
-
-
-
3GainND
RPTN-
-
-
-
3GainND
RPUSD2p.H271Q
Missense
SNP
0.479
2-ND
RRAGA-
-
-
-
1LossND
RRNAD1-
-
-
-
3GainND
RRP15-
-
-
-
3GainND
RTBDN-
-
-
-
1LossND
RTN3p.E546V
Missense
SNP
0.460
2-ND
RUSC1-
-
-
-
3GainND
RUSC2-
-
-
-
1LossND
RXFP4-
-
-
-
3GainND
RXRG-
-
-
-
3GainND
RYR2p.I3208K
Missense
SNP
0.295
3GainND
S100A1-
-
-
-
3GainND
S100A10-
-
-
-
3GainND
S100A11-
-
-
-
3GainND
S100A12-
-
-
-
3GainND
S100A13-
-
-
-
3GainND
S100A14-
-
-
-
3GainND
S100A2-
-
-
-
3GainND
S100A3-
-
-
-
3GainND
S100A4-
-
-
-
3GainND
S100A5-
-
-
-
3GainND
S100A6-
-
-
-
3GainND
S100A7-
-
-
-
3GainND
S100A7A-
-
-
-
3GainND
S100A7L2-
-
-
-
3GainND
S100A8-
-
-
-
3GainND
S100A9-
-
-
-
3GainND
S1PR2-
-
-
-
1LossND
S1PR4-
-
-
-
1LossND
S1PR5-
-
-
-
1LossND
SAFB-
-
-
-
1LossND
SAFB2-
-
-
-
1LossND
SAMD1-
-
-
-
1LossND
SASH3p.X101_splice
Splice_Site
DEL
0.396
NDNDND
SAXO1-
-
-
-
1LossND
SBNO2-
-
-
-
1LossND
SCAMP3-
-
-
-
3GainND
SCAMP4-
-
-
-
1LossND
SCCPDH-
-
-
-
3GainND
SCML2p.P168L
Missense
SNP
0.580
NDNDND
SCN10Ap.Q1757E
Missense
SNP
0.466
2-ND
SCNM1-
-
-
-
3GainND
SCYL3-
-
-
-
3GainND
SDCCAG8-
-
-
-
3GainND
SDE2-
-
-
-
3GainND
SDHC-
-
-
-
3GainND
SEC16B-
-
-
-
3GainND
SEH1L-
-
-
-
1LossND
SELE-
-
-
-
3GainND
SELENBP1-
-
-
-
3GainND
SELL-
-
-
-
3GainND
SELPp.S755L
p.S728L
Missense
Missense
SNP
SNP
0.076
0.077
3GainND
SEMA4A-
-
-
-
3GainND
SEMA6B-
-
-
-
1LossND
SEMA6C-
-
-
-
3GainND
SERPINC1-
-
-
-
3GainND
SERTAD4-
-
-
-
3GainND
SETDB1-
-
-
-
3GainND
SF3A2-
-
-
-
1LossND
SF3B4-
-
-
-
3GainND
SFT2D2-
-
-
-
3GainND
SGTA-
-
-
-
1LossND
SH2D1B-
-
-
-
3GainND
SH2D2A-
-
-
-
3GainND
SH2D3A-
-
-
-
1LossND
SH3BP5L-
-
-
-
3GainND
SH3GL1-
-
-
-
1LossND
SH3GL2-
-
-
-
1LossND
SH3RF1p.T535Rfs*43
Frame_Shift_Del
DEL
0.477
2-ND
SHB-
-
-
-
1LossND
SHC1-
-
-
-
3GainND
SHC2-
-
-
-
1LossND
SHCBP1L-
-
-
-
3GainND
SHD-
-
-
-
1LossND
SHE-
-
-
-
3GainND
SHISA4-
-
-
-
3GainND
SIGMAR1-
-
-
-
1LossND
SIN3B-
-
-
-
1LossND
SIPA1L2-
-
-
-
3GainND
SIRT6-
-
-
-
1LossND
SIT1-
-
-
-
1LossND
SLAMF1-
-
-
-
3GainND
SLAMF6-
-
-
-
3GainND
SLAMF7-
-
-
-
3GainND
SLAMF8-
-
-
-
3GainND
SLAMF9-
-
-
-
3GainND
SLC19A2-
-
-
-
3GainND
SLC1A1-
-
-
-
1LossND
SLC1A6-
-
-
-
1LossND
SLC24A2-
-
-
-
1LossND
SLC25A23-
-
-
-
1LossND
SLC25A41-
-
-
-
1LossND
SLC25A42-
-
-
-
1LossND
SLC25A44-
-
-
-
3GainND
SLC26A9-
-
-
-
3GainND
SLC27A1-
-
-
-
1LossND
SLC27A3-
-
-
-
3GainND
SLC2A6p.G25A
Missense
SNP
1.000
2-ND
SLC30A1-
-
-
-
3GainND
SLC30A10-
-
-
-
3GainND
SLC35E1-
-
-
-
1LossND
SLC35F3-
-
-
-
3GainND
SLC39A1-
-
-
-
3GainND
SLC39A3-
-
-
-
1LossND
SLC41A1-
-
-
-
3GainND
SLC44A2-
-
-
-
1LossND
SLC44A5p.G83C
Missense
SNP
0.530
2-ND
SLC45A3-
-
-
-
3GainND
SLC50A1-
-
-
-
3GainND
SLC5A5-
-
-
-
1LossND
SLC6A1p.Q441L
Missense
SNP
0.488
2-ND
SLC6A15p.Y206S
Missense
SNP
0.515
2-ND
SLC9C2-
-
-
-
3GainND
SLIT2p.W873S
Missense
SNP
0.492
2-ND
SLIT3p.R484L
Missense
SNP
0.529
2-ND
SMARCA2-
-
-
-
1LossND
SMARCA4p.X1390_splice
Splice_Site
SNP
0.946
1LossND
SMCHD1-
-
-
-
1LossND
SMCP-
-
-
-
3GainND
SMG5-
-
-
-
3GainND
SMG7-
-
-
-
3GainND
SMIM24-
-
-
-
1LossND
SMIM27-
-
-
-
1LossND
SMIM7-
-
-
-
1LossND
SMU1-
-
-
-
1LossND
SMYD2-
-
-
-
3GainND
SMYD3-
-
-
-
3GainND
SNAP47-
-
-
-
3GainND
SNAPC2-
-
-
-
1LossND
SNAPC3-
-
-
-
1LossND
SNAPIN-
-
-
-
3GainND
SNHG28-
-
-
-
3GainND
SNRPE-
-
-
-
3GainND
SNX27-
-
-
-
3GainND
SOAT1-
-
-
-
3GainND
SOX13-
-
-
-
3GainND
SPAAR-
-
-
-
1LossND
SPAG8-
-
-
-
1LossND
SPATA17-
-
-
-
3GainND
SPATA45-
-
-
-
3GainND
SPATA46-
-
-
-
3GainND
SPATA6L-
-
-
-
1LossND
SPC24-
-
-
-
1LossND
SPHAR-
-
-
-
3GainND
SPIN3p.S117Y
Missense
SNP
0.368
NDNDND
SPINK4-
-
-
-
1LossND
SPIRE1-
-
-
-
1LossND
SPPL2B-
-
-
-
1LossND
SPRR1A-
-
-
-
3GainND
SPRR1B-
-
-
-
3GainND
SPRR2G-
-
-
-
3GainND
SPRR3-
-
-
-
3GainND
SPRR4-
-
-
-
3GainND
SPRTN-
-
-
-
3GainND
SPTA1p.V2334A
Missense
SNP
0.317
3GainND
SRGAP2-
-
-
-
3GainND
SRGAP2B-
-
-
-
3GainND
SRP9-
-
-
-
3GainND
SSBP4-
-
-
-
1LossND
SSFA2p.G312V
Missense
SNP
0.467
NDNDND
SSR2-
-
-
-
3GainND
STAP2-
-
-
-
1LossND
STARD8p.Q226K
Missense
SNP
0.527
NDNDND
STK11p.G163R
Missense
SNP
0.872
1LossND
STOML2-
-
-
-
1LossND
STUM-
-
-
-
3GainND
STX10-
-
-
-
1LossND
STX6-
-
-
-
3GainND
STXBP2-
-
-
-
1LossND
SUCO-
-
-
-
3GainND
SUGP1-
-
-
-
1LossND
SUGP2-
-
-
-
1LossND
SUSD4-
-
-
-
3GainND
SV2A-
-
-
-
3GainND
SWSAP1-
-
-
-
1LossND
SWT1-
-
-
-
3GainND
SYCE2-
-
-
-
1LossND
SYDE1-
-
-
-
1LossND
SYNE2p.E2211K
Missense
SNP
0.464
2-ND
SYT11-
-
-
-
3GainND
SYT14p.T232S
Missense
SNP
0.275
3GainND
SYT16p.D248E
Missense
SNP
0.444
2-ND
SYT2-
-
-
-
3GainND
TADA1-
-
-
-
3GainND
TAF1A-
-
-
-
3GainND
TAF1L-
-
-
-
1LossND
TAF5L-
-
-
-
3GainND
TAGLN2-
-
-
-
3GainND
TARBP1-
-
-
-
3GainND
TARS2-
-
-
-
3GainND
TATDN3-
-
-
-
3GainND
TBCE-
-
-
-
3GainND
TBX19-
-
-
-
3GainND
TBXA2R-
-
-
-
1LossND
TCF3-
-
-
-
1LossND
TCHH-
-
-
-
3GainND
TCHHL1-
-
-
-
3GainND
TDRD10-
-
-
-
3GainND
TDRD5-
-
-
-
3GainND
TDRKH-
-
-
-
3GainND
TECR-
-
-
-
1LossND
TEDDM1-
-
-
-
3GainND
TEK-
-
-
-
1LossND
TENM3p.K1242N
Missense
SNP
0.483
2-ND
TESK1-
-
-
-
1LossND
TEX13Ap.W380C
Missense
SNP
0.551
NDNDND
TEX35-
-
-
-
3GainND
TEX45-
-
-
-
1LossND
TEX50-
-
-
-
3GainND
TFB2M-
-
-
-
3GainND
TGFB2-
-
-
-
3GainND
TGFBR3L-
-
-
-
1LossND
TGIF1-
-
-
-
1LossND
THBS3-
-
-
-
3GainND
THEG-
-
-
-
1LossND
THEM4-
-
-
-
3GainND
THEM5-
-
-
-
3GainND
THOC1-
-
-
-
1LossND
THOP1-
-
-
-
1LossND
THRAp.H86R
Missense
SNP
0.600
2-ND
TICAM1-
-
-
-
1LossND
TIMM13-
-
-
-
1LossND
TIMM17A-
-
-
-
3GainND
TIMM29-
-
-
-
1LossND
TIMM44-
-
-
-
1LossND
TIPRL-
-
-
-
3GainND
TJP3-
-
-
-
1LossND
TLE2-
-
-
-
1LossND
TLE6-
-
-
-
1LossND
TLK1p.S361F
Missense
SNP
0.496
2-ND
TLN1-
-
-
-
1LossND
TLR5-
-
-
-
3GainND
TM6SF2-
-
-
-
1LossND
TM9SF4p.T21K
Missense
SNP
0.423
2-ND
TMCC2-
-
-
-
3GainND
TMCO1-
-
-
-
3GainND
TMED1-
-
-
-
1LossND
TMEM132Cp.Q707H
Missense
SNP
0.515
2-ND
TMEM161A-
-
-
-
1LossND
TMEM183A-
-
-
-
3GainND
TMEM200C-
-
-
-
1LossND
TMEM205-
-
-
-
1LossND
TMEM206-
-
-
-
3GainND
TMEM215-
-
-
-
1LossND
TMEM221-
-
-
-
1LossND
TMEM259-
-
-
-
1LossND
TMEM38A-
-
-
-
1LossND
TMEM59L-
-
-
-
1LossND
TMEM63A-
-
-
-
3GainND
TMEM79-
-
-
-
3GainND
TMEM81-
-
-
-
3GainND
TMEM8B-
-
-
-
1LossND
TMEM9-
-
-
-
3GainND
TMIGD2-
-
-
-
1LossND
TMOD4-
-
-
-
3GainND
TMPRSS9-
-
-
-
1LossND
TNFAIP8L1-
-
-
-
1LossND
TNFAIP8L2-
-
-
-
3GainND
TNFSF14-
-
-
-
1LossND
TNFSF18-
-
-
-
3GainND
TNFSF4-
-
-
-
3GainND
TNFSF9-
-
-
-
1LossND
TNN-
-
-
-
3GainND
TNNI1-
-
-
-
3GainND
TNNT2-
-
-
-
3GainND
TNPO2-
-
-
-
1LossND
TNR-
-
-
-
3GainND
TNRC18p.A1408Gfs*22
Frame_Shift_Del
DEL
0.406
2-ND
TOMM20-
-
-
-
3GainND
TOMM40L-
-
-
-
3GainND
TOMM5-
-
-
-
1LossND
TOPORS-
-
-
-
1LossND
TOR1AIP1-
-
-
-
3GainND
TOR1AIP2-
-
-
-
3GainND
TOR3A-
-
-
-
3GainND
TP53BP2-
-
-
-
3GainND
TPD52L3-
-
-
-
1LossND
TPGS1p.P136Q
Missense
SNP
0.062
1LossND
TPM2-
-
-
-
1LossND
TPM3-
-
-
-
3GainND
TPM4-
-
-
-
1LossND
TPR-
-
-
-
3GainND
TRAF3IP3-
-
-
-
3GainND
TRAF5-
-
-
-
3GainND
TRAPPC5-
-
-
-
1LossND
TRIM11-
-
-
-
3GainND
TRIM17-
-
-
-
3GainND
TRIM46-
-
-
-
3GainND
TRIM58-
-
-
-
3GainND
TRIM67-
-
-
-
3GainND
TRIP10-
-
-
-
1LossND
TRIP12p.Q638H
Missense
SNP
0.558
2-ND
TRIR-
-
-
-
1LossND
TRMT1-
-
-
-
1LossND
TRMT10B-
-
-
-
1LossND
TRMT1L-
-
-
-
3GainND
TROVE2-
-
-
-
3GainND
TSACC-
-
-
-
3GainND
TSEN15-
-
-
-
3GainND
TSNAX-
-
-
-
3GainND
TSNAX-DISC1-
-
-
-
3GainND
TSPAN16-
-
-
-
1LossND
TSSK6-
-
-
-
1LossND
TSTD1-
-
-
-
3GainND
TTC13-
-
-
-
3GainND
TTC24-
-
-
-
3GainND
TTC39B-
-
-
-
1LossND
TUBB4A-
-
-
-
1LossND
TUBB6-
-
-
-
1LossND
TUBB8P12-
-
-
-
1LossND
TUFT1-
-
-
-
3GainND
TULP3p.R215L
Missense
SNP
0.443
2-ND
TUSC1-
-
-
-
1LossND
TWSG1-
-
-
-
1LossND
TXNDC2-
-
-
-
1LossND
TXNIP-
-
-
-
3GainND
TYK2-
-
-
-
1LossND
TYMS-
-
-
-
1LossND
TYRP1-
-
-
-
1LossND
UAP1-
-
-
-
3GainND
UBA52-
-
-
-
1LossND
UBAP1-
-
-
-
1LossND
UBAP2-
-
-
-
1LossND
UBAP2L-
-
-
-
3GainND
UBE2Q1-
-
-
-
3GainND
UBE2R2-
-
-
-
1LossND
UBE2T-
-
-
-
3GainND
UBL5-
-
-
-
1LossND
UBQLN4-
-
-
-
3GainND
UBXN6-
-
-
-
1LossND
UCHL5-
-
-
-
3GainND
UCK2-
-
-
-
3GainND
UFC1-
-
-
-
3GainND
UHMK1-
-
-
-
3GainND
UHRF1-
-
-
-
1LossND
UHRF2-
-
-
-
1LossND
UNC13A-
-
-
-
1LossND
UNC13B-
-
-
-
1LossND
UNC5Ap.R171L
Missense
SNP
0.443
2-ND
UPF1-
-
-
-
1LossND
UQCR11-
-
-
-
1LossND
URB2-
-
-
-
3GainND
USE1-
-
-
-
1LossND
USF1-
-
-
-
3GainND
USH2A-
-
-
-
3GainND
USHBP1-
-
-
-
1LossND
USP13p.S238I
Missense
SNP
0.502
2-ND
USP14-
-
-
-
1LossND
USP21-
-
-
-
3GainND
UTP25-
-
-
-
3GainND
VAMP4-
-
-
-
3GainND
VANGL2-
-
-
-
3GainND
VAPA-
-
-
-
1LossND
VASH2-
-
-
-
3GainND
VAV1-
-
-
-
1LossND
VCANp.M133I
Missense
SNP
0.472
2-ND
VCP-
-
-
-
1LossND
VHLL-
-
-
-
3GainND
VLDLR-
-
-
-
1LossND
VMAC-
-
-
-
1LossND
VPS45-
-
-
-
3GainND
VPS72-
-
-
-
3GainND
VSIG8-
-
-
-
3GainND
VWA2p.R677M
Missense
SNP
0.475
2-ND
WDR18-
-
-
-
1LossND
WDR26-
-
-
-
3GainND
WDR33p.Q732*
Nonsense
SNP
0.558
2-ND
WDR64p.X639_splice
Splice_Site
SNP
0.326
3GainND
WDR83-
-
-
-
1LossND
WDR83OS-
-
-
-
1LossND
WDR87p.V2613E
p.D902H
Missense
Missense
SNP
SNP
0.395
0.459
2-ND
WIZ-
-
-
-
1LossND
WNT3A-
-
-
-
3GainND
WNT7Bp.A50S
Missense
SNP
0.491
2-ND
WNT9A-
-
-
-
3GainND
WT1p.D223H
Missense
SNP
0.500
2-ND
XAB2-
-
-
-
1LossND
XCL1-
-
-
-
3GainND
XCL2-
-
-
-
3GainND
XIRP2p.E3375K
Missense
SNP
0.346
2-ND
XPR1-
-
-
-
3GainND
YES1-
-
-
-
1LossND
YIPF2-
-
-
-
1LossND
YJEFN3-
-
-
-
1LossND
YJU2-
-
-
-
1LossND
YOD1-
-
-
-
3GainND
YTHDC1p.R286K
Missense
SNP
0.487
2-ND
YY1AP1-
-
-
-
3GainND
ZAP70p.G32V
Missense
SNP
0.520
2-ND
ZBED6-
-
-
-
3GainND
ZBTB14-
-
-
-
1LossND
ZBTB18-
-
-
-
3GainND
ZBTB37-
-
-
-
3GainND
ZBTB41-
-
-
-
3GainND
ZBTB5-
-
-
-
1LossND
ZBTB7A-
-
-
-
1LossND
ZBTB7B-
-
-
-
3GainND
ZC3H11A-
-
-
-
3GainND
ZCCHC7-
-
-
-
1LossND
ZDHHC21-
-
-
-
1LossND
ZFR2-
-
-
-
1LossND
ZGLP1-
-
-
-
1LossND
ZHX2p.G779C
Missense
SNP
0.486
2-ND
ZNF100-
-
-
-
1LossND
ZNF101-
-
-
-
1LossND
ZNF121-
-
-
-
1LossND
ZNF124-
-
-
-
3GainND
ZNF136-
-
-
-
1LossND
ZNF14-
-
-
-
1LossND
ZNF177-
-
-
-
1LossND
ZNF20-
-
-
-
1LossND
ZNF208-
-
-
-
1LossND
ZNF234p.S548R
Missense
SNP
0.446
2-ND
ZNF253-
-
-
-
1LossND
ZNF254-
-
-
-
1LossND
ZNF257-
-
-
-
1LossND
ZNF266-
-
-
-
1LossND
ZNF281-
-
-
-
3GainND
ZNF317-
-
-
-
1LossND
ZNF326p.A311Hfs*30
Frame_Shift_Del
DEL
0.367
2-ND
ZNF333-
-
-
-
1LossND
ZNF358-
-
-
-
1LossND
ZNF414-
-
-
-
1LossND
ZNF426-
-
-
-
1LossND
ZNF429-
-
-
-
1LossND
ZNF43-
-
-
-
1LossND
ZNF430-
-
-
-
1LossND
ZNF431-
-
-
-
1LossND
ZNF433-
-
-
-
1LossND
ZNF439-
-
-
-
1LossND
ZNF44-
-
-
-
1LossND
ZNF440-
-
-
-
1LossND
ZNF441-
-
-
-
1LossND
ZNF442-
-
-
-
1LossND
ZNF443-
-
-
-
1LossND
ZNF486-
-
-
-
1LossND
ZNF490-
-
-
-
1LossND
ZNF491-
-
-
-
1LossND
ZNF492-
-
-
-
1LossND
ZNF493-
-
-
-
1LossND
ZNF496-
-
-
-
3GainND
ZNF506-
-
-
-
1LossND
ZNF519-
-
-
-
1LossND
ZNF554-
-
-
-
1LossND
ZNF555-
-
-
-
1LossND
ZNF556-
-
-
-
1LossND
ZNF557-
-
-
-
1LossND
ZNF558-
-
-
-
1LossND
ZNF559-
-
-
-
1LossND
ZNF559-ZNF177-
-
-
-
1LossND
ZNF560-
-
-
-
1LossND
ZNF561-
-
-
-
1LossND
ZNF562-
-
-
-
1LossND
ZNF563-
-
-
-
1LossND
ZNF564-
-
-
-
1LossND
ZNF57-
-
-
-
1LossND
ZNF625-
-
-
-
1LossND
ZNF625-ZNF20-
-
-
-
1LossND
ZNF626-
-
-
-
1LossND
ZNF627-
-
-
-
1LossND
ZNF648-
-
-
-
3GainND
ZNF653-
-
-
-
1LossND
ZNF66-
-
-
-
1LossND
ZNF669-
-
-
-
3GainND
ZNF670-
-
-
-
3GainND
ZNF670-ZNF695-
-
-
-
3GainND
ZNF672-
-
-
-
3GainND
ZNF675-
-
-
-
1LossND
ZNF676-
-
-
-
1LossND
ZNF678-
-
-
-
3GainND
ZNF681-
-
-
-
1LossND
ZNF682-
-
-
-
1LossND
ZNF687-
-
-
-
3GainND
ZNF69-
-
-
-
1LossND
ZNF692-
-
-
-
3GainND
ZNF695-
-
-
-
3GainND
ZNF699-
-
-
-
1LossND
ZNF700-
-
-
-
1LossND
ZNF708-
-
-
-
1LossND
ZNF709-
-
-
-
1LossND
ZNF714-
-
-
-
1LossND
ZNF723-
-
-
-
1LossND
ZNF724-
-
-
-
1LossND
ZNF726-
-
-
-
1LossND
ZNF727p.L56Q
Missense
SNP
0.519
2-ND
ZNF728-
-
-
-
1LossND
ZNF729-
-
-
-
1LossND
ZNF730-
-
-
-
1LossND
ZNF737-
-
-
-
1LossND
ZNF738-
-
-
-
1LossND
ZNF763-
-
-
-
1LossND
ZNF77-
-
-
-
1LossND
ZNF791-
-
-
-
1LossND
ZNF799-
-
-
-
1LossND
ZNF816p.K209N
p.R194T
Missense
Missense
SNP
SNP
0.520
0.524
2-ND
ZNF823-
-
-
-
1LossND
ZNF844-
-
-
-
1LossND
ZNF846-
-
-
-
1LossND
ZNF85-
-
-
-
1LossND
ZNF878-
-
-
-
1LossND
ZNF90-
-
-
-
1LossND
ZNF91-
-
-
-
1LossND
ZNF93-
-
-
-
1LossND
ZNF98-
-
-
-
1LossND
ZNF99-
-
-
-
1LossND
ZNRF4-
-
-
-
1LossND
ZP4-
-
-
-
3GainND
ZRSR2p.E60D
Missense
SNP
0.596
NDNDND
ZSCAN1p.G199C
Missense
SNP
0.507
2-ND
ZSWIM4-
-
-
-
1LossND