PDMR-275155~148-R~T12T71TC0-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AARD-
-
-
-
3GainND
AASDHPPT-
-
-
-
1LossND
ABATp.A304T
Missense
SNP
0.579
2-ND
ABCA10p.K31Nfs*18
Frame_Shift_Del
DEL
0.393
2-ND
ABCA5p.A1145V
Missense
SNP
0.448
2-ND
ABCA6p.W339*
Nonsense
SNP
0.530
2-ND
ABCA7p.X194_splice
Splice_Site
SNP
1.000
2-ND
ABCB1p.R1279C
Missense
SNP
0.514
2-ND
ABCC10p.G944Wfs*88
Frame_Shift_Ins
INS
0.324
2-ND
ABCC11p.S1075F
Missense
SNP
0.575
2-ND
ABCC12p.M401R
Missense
SNP
0.544
2-ND
ABCC3p.P623S
Missense
SNP
0.507
2-ND
ABCC4-
-
-
-
3GainND
ABCC5p.S1171F
Missense
SNP
0.500
2-ND
ABCC8p.I1377T
p.G561S
Missense
Missense
SNP
SNP
0.446
0.590
2-ND
ABCC9p.E668D
Missense
SNP
0.539
2-ND
ABCG1p.A539T
Missense
SNP
0.500
2-ND
ABCG4-
-
-
-
1LossND
ABHD13-
-
-
-
3GainND
ABHD14A-
-
-
-
1LossND
ABHD14A-ACY1-
-
-
-
1LossND
ABHD14B-
-
-
-
1LossND
ABHD3p.V201A
Missense
SNP
0.533
2-ND
ABHD5-
-
-
-
1LossND
ABHD6-
-
-
-
1LossND
ABLIM2p.D120Tfs*3
Frame_Shift_Del
DEL
0.411
2-ND
ABRA-
-
-
-
3GainND
AC001226.2-
-
-
-
3GainND
AC006059.2-
-
-
-
1LossND
AC006254.1-
-
-
-
1LossND
AC007998.2-
-
-
-
1LossND
AC009879.2-
-
-
-
3GainND
AC009879.3-
-
-
-
3GainND
AC012213.5-
-
-
-
3GainND
AC012254.2-
-
-
-
1LossND
AC022384.1-
-
-
-
1LossND
AC022826.2-
-
-
-
3GainND
AC036214.3-
-
-
-
3GainND
AC037459.1-
-
-
-
1LossND
AC090004.1-
-
-
-
1LossND
AC090227.1-
-
-
-
1LossND
AC090360.1-
-
-
-
1LossND
AC091551.1-
-
-
-
1LossND
AC092042.3-
-
-
-
1LossND
AC093668.2-
-
-
-
1LossND
AC093668.3-
-
-
-
1LossND
AC096887.1-
-
-
-
1LossND
AC097634.4-
-
-
-
1LossND
AC097636.1-
-
-
-
1LossND
AC097637.1-
-
-
-
1LossND
AC098650.1-
-
-
-
1LossND
AC100868.1-
-
-
-
3GainND
AC104304.1-
-
-
-
1LossND
AC104452.1-
-
-
-
1LossND
AC105052.1-
-
-
-
1LossND
AC105052.3-
-
-
-
1LossND
AC107959.5-
-
-
-
1LossND
AC109583.3-
-
-
-
1LossND
AC110275.1-
-
-
-
1LossND
AC126283.2-
-
-
-
3GainND
AC138647.1-
-
-
-
3GainND
AC138696.1-
-
-
-
3GainND
AC144573.1-
-
-
-
1LossND
ACAA1-
-
-
-
1LossND
ACAA2-
-
-
-
1LossND
ACACAp.P663H
Missense
SNP
0.480
2-ND
ACAD10p.L102Yfs*12
p.R588C
p.G896W
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.510
0.374
0.478
2-ND
ACAD8-
-
-
-
1LossND
ACANp.P36L
p.G1870E
Missense
Missense
SNP
SNP
0.493
0.412
2-ND
ACAT1-
-
-
-
1LossND
ACBD7-
-
-
-
3GainND
ACER2-
-
-
-
1LossND
ACKR2-
-
-
-
1LossND
ACMSDp.K19Rfs*22
Frame_Shift_Del
DEL
0.500
2-ND
ACO1-
-
-
-
1LossND
ACOD1-
-
-
-
3GainND
ACOT12p.R457Q
Missense
SNP
0.552
2-ND
ACOX2-
-
-
-
1LossND
ACRV1-
-
-
-
1LossND
ACSM2Ap.E347K
Missense
SNP
0.442
2-ND
ACSM3p.E564K
Missense
SNP
0.513
2-ND
ACSS2p.R202Q
p.F507I
p.R671C
Missense
Missense
Missense
SNP
SNP
SNP
0.411
0.537
0.245
2-ND
ACTC1p.L348M
p.W342*
Missense
Nonsense
SNP
SNP
0.505
0.466
2-ND
ACTN3p.E558K
Missense
SNP
0.396
2-ND
ACTN4p.D874Tfs*44
Frame_Shift_Del
DEL
0.342
2-ND
ACTR5p.P266S
Missense
SNP
0.524
2-ND
ACTR8-
-
-
-
1LossND
ACVR2B-
-
-
-
1LossND
ACY1-
-
-
-
1LossND
ADALp.R61K
p.G204E
Missense
Missense
SNP
SNP
0.512
0.511
2-ND
ADAM12p.G435E
Missense
SNP
0.438
2-ND
ADAM18-
-
-
-
1LossND
ADAM2-
-
-
-
1LossND
ADAM28-
-
-
-
1LossND
ADAM29p.S115F
p.R311C
Missense
Missense
SNP
SNP
0.475
0.522
2-ND
ADAM32-
-
-
-
1LossND
ADAM7-
-
-
-
1LossND
ADAM9-
-
-
-
1LossND
ADAMDEC1-
-
-
-
1LossND
ADAMTS10p.Q930*
Nonsense
SNP
0.629
2-ND
ADAMTS12-
-
-
-
4GainND
ADAMTS15-
-
-
-
1LossND
ADAMTS16-
-
-
-
4GainND
ADAMTS18p.C1139Y
Missense
SNP
0.588
2-ND
ADAMTS3p.E912K
Missense
SNP
0.444
2-ND
ADAMTS5p.Q768*
Nonsense
SNP
1.000
2-ND
ADAMTS6p.H22Y
Missense
SNP
0.535
2-ND
ADAMTS8-
-
-
-
1LossND
ADAMTS9-
-
-
-
1LossND
ADAMTSL1-
-
-
-
1LossND
ADAMTSL2p.D564G
p.E621K
Missense
Missense
SNP
SNP
0.454
0.543
2-ND
ADARB2-
-
-
-
3GainND
ADCK5-
-
-
-
3GainND
ADCY10p.E1490Gfs*53
Frame_Shift_Ins
INS
0.290
2-ND
ADCY2-
-
-
-
4GainND
ADCY7p.R206Q
Missense
SNP
0.478
2-ND
ADCY8p.L650F
Missense
SNP
0.299
3GainND
ADGRA1p.P126S
Missense
SNP
0.602
2-ND
ADGRA2-
-
-
-
1LossND
ADGRA3p.P1087S
Missense
SNP
0.516
2-ND
ADGRB1-
-
-
-
3GainND
ADGRB3p.S13F
p.L1200F
p.R1452W
Missense
Missense
Missense
SNP
SNP
SNP
0.364
0.506
0.552
2-ND
ADGRE1p.I333T
Missense
SNP
0.487
2-ND
ADGRF5p.D495N
Missense
SNP
0.500
2-ND
ADGRG4p.S1689F
Missense
SNP
1.000
NDNDND
ADGRL1p.P1309Lfs*224
Frame_Shift_Del
DEL
0.491
2-ND
ADGRV1p.P2024S
Missense
SNP
0.439
2-ND
ADH1Bp.R313H
Missense
SNP
0.473
2-ND
ADHFE1-
-
-
-
3GainND
ADNP2-
-
-
-
1LossND
ADPRHL1-
-
-
-
3GainND
ADRA1A-
-
-
-
1LossND
ADRB3-
-
-
-
1LossND
AEBP2p.P36L
Missense
SNP
0.429
2-ND
AFMp.L16Ffs*3
Frame_Shift_Ins
INS
0.253
2-ND
AGAP14Pp.T407A
Missense
SNP
0.431
NDNDND
AGO2-
-
-
-
3GainND
AGPAT5-
-
-
-
1LossND
AGTRAPp.P16S
Missense
SNP
0.517
2-ND
AGXT2-
-
-
-
4GainND
AHRR-
-
-
-
3GainND
AIDAp.R251Gfs*22
Frame_Shift_Del
DEL
0.128
2-ND
AIM1Lp.R1181H
Missense
SNP
0.543
NDNDND
AIPp.T231M
Missense
SNP
0.423
2-ND
AK3-
-
-
-
1LossND
AK7p.P679L
Missense
SNP
0.438
2-ND
AK8p.P479S
Missense
SNP
1.000
2-ND
AKAP11-
-
-
-
3GainND
AKAP6p.L11*
p.G1270Dfs*36
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.500
0.457
2-ND
AKAP7p.K79Rfs*21
Frame_Shift_Del
DEL
0.519
2-ND
AKAP8Lp.E640D
Missense
SNP
0.600
2-ND
AKR1C1-
-
-
-
3GainND
AKR1C2-
-
-
-
3GainND
AKR1C3-
-
-
-
3GainND
AKR1C4-
-
-
-
3GainND
AKR1C8P-
-
-
-
3GainND
AKR1E2-
-
-
-
3GainND
AL133410.3-
-
-
-
1LossND
AL138752.2-
-
-
-
1LossND
AL157392.5-
-
-
-
3GainND
AL162231.1-
-
-
-
1LossND
AL162231.3-
-
-
-
1LossND
AL162377.3-
-
-
-
3GainND
AL359736.1-
-
-
-
3GainND
AL359922.1-
-
-
-
1LossND
AL512506.3-
-
-
-
3GainND
AL513165.2-
-
-
-
1LossND
AL592490.1-
-
-
-
3GainND
ALAS1-
-
-
-
1LossND
ALDH1B1-
-
-
-
1LossND
ALDH1L2p.L300F
Missense
SNP
0.427
2-ND
ALDH2p.C320W
Missense
SNP
0.503
2-ND
ALG11-
-
-
-
3GainND
ALG5-
-
-
-
3GainND
ALG9-
-
-
-
1LossND
ALKp.K1109N
Missense
SNP
0.549
2-ND
ALKAL1-
-
-
-
3GainND
ALKBH8-
-
-
-
1LossND
ALMS1p.G1199S
Missense
SNP
0.494
2-ND
ALOX5AP-
-
-
-
3GainND
ALOXE3p.G750R
Missense
SNP
0.489
2-ND
ALPK2-
-
-
-
1LossND
ALS2CL-
-
-
-
1LossND
ALS2CR11p.V1745*
p.M1339T
Frame_Shift_Del
Missense
DEL
SNP
0.405
0.483
NDNDND
AMACR-
-
-
-
4GainND
AMBRA1p.E468K
Missense
SNP
0.506
2-ND
AMER2-
-
-
-
3GainND
AMIGO3-
-
-
-
1LossND
AMTp.R371H
Missense
SNP
1.000
1LossND
AMY1Cp.X334_splice
Splice_Site
SNP
0.130
2-ND
ANAPC5p.L114Cfs*16
Frame_Shift_Del
DEL
0.278
2-ND
ANGPT1p.N191Tfs*4
Frame_Shift_Del
DEL
0.281
3GainND
ANGPT2-
-
-
-
1LossND
ANGPT4p.G193S
Missense
SNP
0.455
2-ND
ANK1-
-
-
-
1LossND
ANK3p.I2751Yfs*21
p.Y861C
Frame_Shift_Del
Missense
DEL
SNP
0.457
0.581
2-ND
ANKH-
-
-
-
4GainND
ANKK1-
-
-
-
1LossND
ANKRA2p.R137K
Missense
SNP
0.469
2-ND
ANKRD10-
-
-
-
3GainND
ANKRD11p.P1747L
Missense
SNP
0.507
2-ND
ANKRD16-
-
-
-
3GainND
ANKRD18A-
-
-
-
1LossND
ANKRD18B-
-
-
-
1LossND
ANKRD28-
-
-
-
1LossND
ANKRD29-
-
-
-
1LossND
ANKRD33B-
-
-
-
4GainND
ANKRD35p.E876K
Missense
SNP
0.395
2-ND
ANKRD36B-
-
-
-
1LossND
ANKRD36Cp.A623V
Missense
SNP
0.406
2-ND
ANKRD46-
-
-
-
3GainND
ANKRD50p.R236Q
Missense
SNP
0.466
2-ND
ANKRD63p.G165N
Missense
MNP
0.543
2-ND
ANLNp.E151K
Missense
SNP
0.425
2-ND
ANO10-
-
-
-
1LossND
ANO2p.G966E
Missense
SNP
0.471
2-ND
ANO5p.N64Ifs*27
Frame_Shift_Del
DEL
0.479
2-ND
ANO6p.X24_splice
Splice_Site
SNP
0.536
2-ND
ANXA13-
-
-
-
3GainND
ANXA2R-
-
-
-
4GainND
AOC1p.H598Y
Missense
SNP
0.444
2-ND
AP000646.1-
-
-
-
1LossND
AP000769.1p.S6L
Missense
SNP
0.529
NDNDND
AP001267.5-
-
-
-
1LossND
AP001781.2-
-
-
-
1LossND
AP002373.1-
-
-
-
1LossND
AP002884.3-
-
-
-
1LossND
AP1S1p.D122Mfs*11
Frame_Shift_Del
DEL
0.934
2-ND
AP3M2-
-
-
-
1LossND
AP5M1p.Y84F
Missense
SNP
0.490
2-ND
APBA1p.S795R
Missense
SNP
0.458
2-ND
APBB1p.R451C
Missense
SNP
0.457
2-ND
APBB1IPp.R485K
Missense
SNP
0.492
2-ND
APCp.P865S
Missense
SNP
0.491
2-ND
APEH-
-
-
-
1LossND
APLP1p.S339F
p.R446C
Missense
Missense
SNP
SNP
0.455
0.341
2-ND
APLP2-
-
-
-
1LossND
APOA1-
-
-
-
1LossND
APOA4-
-
-
-
1LossND
APOA5-
-
-
-
1LossND
APOC3-
-
-
-
1LossND
APPBP2p.E466K
Missense
SNP
0.444
2-ND
APPL1-
-
-
-
1LossND
APTX-
-
-
-
1LossND
AQP3-
-
-
-
1LossND
AQP4-
-
-
-
1LossND
AQP7-
-
-
-
1LossND
ARp.D696N
Missense
SNP
1.000
NDNDND
ARAP1p.R1160C
Missense
SNP
0.493
2-ND
ARC-
-
-
-
3GainND
ARCN1-
-
-
-
1LossND
ARF4-
-
-
-
1LossND
ARFGAP2p.F92Sfs*9
Frame_Shift_Del
DEL
0.434
2-ND
ARFGEF1-
-
-
-
3GainND
ARGLU1-
-
-
-
3GainND
ARHGAP20-
-
-
-
1LossND
ARHGAP24p.E705K
Missense
SNP
0.459
2-ND
ARHGAP32-
-
-
-
1LossND
ARHGAP33p.R551H
Missense
SNP
0.583
2-ND
ARHGAP35p.S839L
Missense
SNP
0.502
2-ND
ARHGAP36p.S212F
Missense
SNP
1.000
NDNDND
ARHGAP39p.S366Rfs*18
Frame_Shift_Del
DEL
0.301
3GainND
ARHGEF10-
-
-
-
1LossND
ARHGEF10Lp.G552R
Missense
SNP
0.482
2-ND
ARHGEF12-
-
-
-
1LossND
ARHGEF15p.S630F
Missense
SNP
0.552
2-ND
ARHGEF3-
-
-
-
1LossND
ARHGEF39-
-
-
-
1LossND
ARHGEF7-
-
-
-
3GainND
ARID3C-
-
-
-
1LossND
ARIH2-
-
-
-
1LossND
ARIH2OS-
-
-
-
1LossND
ARL11-
-
-
-
3GainND
ARL5B-
-
-
-
3GainND
ARL6IP5-
-
-
-
1LossND
ARMC1-
-
-
-
3GainND
ARMC3p.G836R
Missense
SNP
0.439
2-ND
ARPC4-
-
-
-
1LossND
ARPC4-TTLL3-
-
-
-
1LossND
ARPP21-
-
-
-
1LossND
ASAH1-
-
-
-
1LossND
ASAP1-
-
-
-
3GainND
ASB13-
-
-
-
3GainND
ASB14-
-
-
-
1LossND
ASB17p.N177Tfs*7
Frame_Shift_Del
DEL
0.464
2-ND
ASB2p.C213G
Missense
SNP
0.522
2-ND
ASH1Lp.T2895Qfs*44
p.H2315R
p.S15F
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.540
0.514
0.494
2-ND
ASH2L-
-
-
-
1LossND
ASIC4p.E387K
Missense
SNP
0.536
2-ND
ASPH-
-
-
-
3GainND
ASPMp.A3335V
Missense
SNP
0.429
2-ND
ASTN1p.G76R
Missense
SNP
0.467
2-ND
ASXL3p.G587I
p.E762K
p.S1221F
Missense
Missense
Missense
MNP
SNP
SNP
1.000
1.000
1.000
1LossND
ATAD2-
-
-
-
3GainND
ATAD3Ap.P330L
Missense
SNP
0.557
2-ND
ATF4p.M285Nfs*10
Frame_Shift_Ins
INS
0.308
2-ND
ATG2Ap.P865S
Missense
SNP
0.437
2-ND
ATG4Cp.E441K
Missense
SNP
0.426
2-ND
ATG5p.D262N
Missense
SNP
0.449
2-ND
ATG7-
-
-
-
1LossND
ATM-
-
-
-
1LossND
ATP11A-
-
-
-
3GainND
ATP12A-
-
-
-
3GainND
ATP2A1p.R822Gfs*49
Frame_Shift_Del
DEL
0.882
2-ND
ATP2A3p.N796S
Missense
SNP
0.565
2-ND
ATP2B2-
-
-
-
1LossND
ATP4Bp.F285L
Missense
SNP
0.500
3GainND
ATP5F1A-
-
-
-
1LossND
ATP5F1C-
-
-
-
3GainND
ATP5MG-
-
-
-
1LossND
ATP6V0D2-
-
-
-
3GainND
ATP6V0E2p.G170R
Missense
SNP
0.446
2-ND
ATP6V1B2-
-
-
-
1LossND
ATP6V1C1-
-
-
-
3GainND
ATP6V1E2p.K10Sfs*6
Frame_Shift_Del
DEL
0.545
2-ND
ATP6V1G1p.E39del
In_Frame_Del
DEL
0.944
2-ND
ATP6V1H-
-
-
-
3GainND
ATP7B-
-
-
-
3GainND
ATP8A1p.R735W
Missense
SNP
0.358
2-ND
ATP8A2p.G160D
Missense
SNP
0.689
3GainND
ATP8B1-
-
-
-
1LossND
ATP8B4p.G834D
Missense
SNP
0.429
2-ND
ATP9B-
-
-
-
1LossND
ATRIP-
-
-
-
1LossND
ATRNL1p.Q881*
Nonsense
SNP
0.406
2-ND
ATXN10p.S448F
Missense
SNP
0.565
2-ND
ATXN7-
-
-
-
1LossND
AUTS2p.P1213L
Missense
SNP
0.415
2-ND
AXDND1p.E791G
Missense
SNP
0.505
2-ND
AZI2-
-
-
-
1LossND
AZIN1-
-
-
-
3GainND
B3GALT6p.R197Afs*81
Frame_Shift_Del
DEL
0.469
2-ND
B3GAT1-
-
-
-
1LossND
B3GLCTp.S68F
Missense
SNP
0.732
3GainND
B4GALNT3p.Q917Sfs*9
Frame_Shift_Del
DEL
0.436
2-ND
B4GALT1-
-
-
-
1LossND
B4GALT5p.A62S
Missense
SNP
0.441
2-ND
B4GALT6-
-
-
-
1LossND
BAALC-
-
-
-
3GainND
BAATp.M1?
Frame_Shift_Del
DEL
0.409
2-ND
BACE1-
-
-
-
1LossND
BAG1-
-
-
-
1LossND
BAG4-
-
-
-
1LossND
BAHCC1p.H835Tfs*139
Frame_Shift_Del
DEL
0.538
2-ND
BAP1-
-
-
-
1LossND
BARX2-
-
-
-
1LossND
BASP1-
-
-
-
4GainND
BAZ1Ap.G578E
Missense
SNP
0.392
2-ND
BCKDHAp.S89P
Missense
SNP
0.528
2-ND
BCL11Bp.S765L
Missense
SNP
0.510
2-ND
BCL2-
-
-
-
1LossND
BCL3p.K361Efs*16
p.L76P
Frame_Shift_Ins
Missense
INS
SNP
0.326
0.586
2-ND
BCL9L-
-
-
-
1LossND
BCO2-
-
-
-
1LossND
BEND7-
-
-
-
3GainND
BHLHE22-
-
-
-
3GainND
BHLHE41p.R17G
Missense
SNP
0.515
2-ND
BIN3-
-
-
-
1LossND
BIVM-
-
-
-
3GainND
BIVM-ERCC5-
-
-
-
3GainND
BLID-
-
-
-
1LossND
BLK-
-
-
-
1LossND
BLMp.V301Cfs*20
Frame_Shift_Ins
INS
0.354
2-ND
BMP1-
-
-
-
1LossND
BMP15p.S280F
Missense
SNP
1.000
NDNDND
BMP5p.E357K
Missense
SNP
0.460
2-ND
BMP7p.A395V
Missense
SNP
0.472
2-ND
BNC2-
-
-
-
1LossND
BNIP2p.P72S
Missense
SNP
0.374
2-ND
BNIP3L-
-
-
-
1LossND
BOD1L2-
-
-
-
1LossND
BOLLp.G261E
Missense
SNP
0.448
2-ND
BORA-
-
-
-
3GainND
BPIp.L458F
Missense
SNP
0.445
2-ND
BPIFB3p.T473I
Missense
SNP
0.487
2-ND
BRCA2p.H334Y
Missense
SNP
0.686
3GainND
BRD4p.P1175H
Missense
SNP
0.560
2-ND
BRD9-
-
-
-
4GainND
BRF1p.S293Rfs*11
Frame_Shift_Del
DEL
0.461
2-ND
BRF2-
-
-
-
1LossND
BRIX1-
-
-
-
4GainND
BRK1-
-
-
-
1LossND
BRPF1p.M745Wfs*48
Frame_Shift_Del
DEL
0.928
1LossND
BRPF3p.A1082V
Missense
SNP
0.542
2-ND
BRSK2p.R401Gfs*4
Frame_Shift_Del
DEL
0.406
2-ND
BRWD3p.L1332F
Missense
SNP
1.000
NDNDND
BSN-
-
-
-
1LossND
BSX-
-
-
-
1LossND
BTCp.P167S
Missense
SNP
0.611
2-ND
BTD-
-
-
-
1LossND
BTG4-
-
-
-
1LossND
BTN2A1p.F463del
p.I115F
In_Frame_Del
Missense
DEL
SNP
0.409
0.482
2-ND
BTRCp.R390C
Missense
SNP
0.540
2-ND
BUD13-
-
-
-
1LossND
C11orf1-
-
-
-
1LossND
C11orf45-
-
-
-
1LossND
C11orf52-
-
-
-
1LossND
C11orf53-
-
-
-
1LossND
C11orf65-
-
-
-
1LossND
C11orf71-
-
-
-
1LossND
C11orf87-
-
-
-
1LossND
C11orf88-
-
-
-
1LossND
C12orf42p.R19K
Missense
SNP
0.455
2-ND
C16orf71p.E264*
Frame_Shift_Ins
INS
0.361
2-ND
C16orf72p.E41Sfs*103
Frame_Shift_Del
DEL
0.454
2-ND
C18orf21-
-
-
-
1LossND
C18orf25-
-
-
-
1LossND
C18orf32-
-
-
-
1LossND
C18orf54-
-
-
-
1LossND
C18orf63-
-
-
-
1LossND
C1orf141p.N225Ifs*23
Frame_Shift_Del
DEL
0.496
2-ND
C1orf167p.A1067Sfs*55
Frame_Shift_Ins
INS
0.351
2-ND
C1orf228p.V399A
Missense
SNP
0.513
NDNDND
C1QAp.P29L
Missense
MNP
0.606
2-ND
C1QL3-
-
-
-
3GainND
C1QTNF3p.Y236H
p.S233L
Missense
Missense
SNP
SNP
0.240
0.802
4GainND
C1QTNF3-AMACR-
-
-
-
4GainND
C1QTNF4p.G168E
Missense
SNP
0.563
2-ND
C1QTNF5-
-
-
-
1LossND
C1QTNF9-
-
-
-
3GainND
C1QTNF9B-
-
-
-
3GainND
C2CD2L-
-
-
-
1LossND
C2CD3p.K654Sfs*43
p.A565V
Frame_Shift_Del
Missense
DEL
SNP
0.519
0.400
2-ND
C3p.G1394E
Missense
SNP
0.283
2-ND
C3orf14-
-
-
-
1LossND
C3orf18-
-
-
-
1LossND
C3orf20-
-
-
-
1LossND
C3orf49-
-
-
-
1LossND
C3orf62-
-
-
-
1LossND
C3orf67-
-
-
-
1LossND
C3orf84-
-
-
-
1LossND
C4Bp.V867I
Missense
SNP
1.000
2-ND
C4BPBp.W184*
Nonsense
SNP
0.460
2-ND
C4orf26p.S131F
Missense
SNP
0.462
NDNDND
C5orf22-
-
-
-
4GainND
C5orf34-
-
-
-
4GainND
C5orf38-
-
-
-
4GainND
C5orf49-
-
-
-
4GainND
C5orf51p.X69_splice
Splice_Site
SNP
0.275
4GainND
C6p.H830Y
p.R145G
Missense
Missense
SNP
SNP
0.766
0.196
4GainND
C6orf118p.E443K
Missense
SNP
0.676
2-ND
C7-
-
-
-
4GainND
C7orf31p.M211I
Missense
SNP
0.509
2-ND
C8orf33-
-
-
-
3GainND
C8orf34-
-
-
-
3GainND
C8orf37-
-
-
-
3GainND
C8orf44-
-
-
-
3GainND
C8orf48-
-
-
-
1LossND
C8orf58-
-
-
-
1LossND
C8orf59-
-
-
-
3GainND
C8orf74-
-
-
-
1LossND
C8orf76-
-
-
-
3GainND
C8orf82-
-
-
-
3GainND
C8orf86-
-
-
-
1LossND
C8orf88-
-
-
-
3GainND
C8orf89-
-
-
-
3GainND
C9-
-
-
-
4GainND
C9orf131p.G579E
Missense
SNP
1.000
1LossND
C9orf135p.D63N
Missense
SNP
0.518
2-ND
C9orf24-
-
-
-
1LossND
C9orf66-
-
-
-
1LossND
C9orf72-
-
-
-
1LossND
C9orf92-
-
-
-
1LossND
CA1-
-
-
-
3GainND
CA13-
-
-
-
3GainND
CA2-
-
-
-
3GainND
CA3-
-
-
-
3GainND
CA8-
-
-
-
3GainND
CA9-
-
-
-
1LossND
CAAP1-
-
-
-
1LossND
CAB39L-
-
-
-
3GainND
CABLES1-
-
-
-
1LossND
CABS1p.S37Ifs*17
p.D84N
Frame_Shift_Ins
Missense
INS
SNP
0.325
0.468
2-ND
CABYR-
-
-
-
1LossND
CACNA1Cp.X780_splice
Splice_Site
SNP
0.471
2-ND
CACNA1D-
-
-
-
1LossND
CACNA1Hp.A2240V
Missense
SNP
0.517
2-ND
CACNA1Ip.T1279I
Missense
SNP
0.488
2-ND
CACNA2D2-
-
-
-
1LossND
CACNA2D3-
-
-
-
1LossND
CACNB2p.G193E
Missense
SNP
0.310
3GainND
CACNG6p.P209Rfs*21
Frame_Shift_Del
DEL
0.441
2-ND
CACYBPp.T226A
Missense
SNP
0.509
2-ND
CADp.H2052R
Missense
SNP
0.571
2-ND
CADM1-
-
-
-
1LossND
CADPSp.D806Ifs*10
Frame_Shift_Del
DEL
1.000
1LossND
CADPS2p.M1211I
Missense
SNP
0.515
2-ND
CALB1-
-
-
-
3GainND
CALCRp.P394S
Missense
SNP
0.578
2-ND
CALML3-
-
-
-
3GainND
CALML5-
-
-
-
3GainND
CAMK1-
-
-
-
1LossND
CAMK1D-
-
-
-
3GainND
CAMKV-
-
-
-
1LossND
CAMP-
-
-
-
1LossND
CAMTA2p.P889Lfs*9
Frame_Shift_Del
DEL
0.505
2-ND
CAND2-
-
-
-
1LossND
CANT1p.R300H
Missense
SNP
0.464
2-ND
CAPN1p.E523*
Nonsense
SNP
0.423
2-ND
CAPN6p.R444C
Missense
SNP
1.000
NDNDND
CAPN7-
-
-
-
1LossND
CAPSL-
-
-
-
4GainND
CARD16-
-
-
-
1LossND
CARD17-
-
-
-
1LossND
CARD18-
-
-
-
1LossND
CARD6-
-
-
-
4GainND
CARMIL2p.F67I
Missense
SNP
0.390
2-ND
CARS2-
-
-
-
3GainND
CASP1-
-
-
-
1LossND
CASP6-
-
-
-
3GainND
CATSPER1p.P93S
Missense
SNP
0.398
2-ND
CATSPER3p.F66Lfs*10
Frame_Shift_Del
DEL
0.467
2-ND
CATSPERBp.Q723*
Nonsense
SNP
0.541
2-ND
CAV3-
-
-
-
1LossND
CBL-
-
-
-
1LossND
CBLN2-
-
-
-
1LossND
CBR1p.K146N
Missense
SNP
0.494
2-ND
CBWD1-
-
-
-
1LossND
CBWD3-
-
-
-
1LossND
CBWD5-
-
-
-
1LossND
CBWD6-
-
-
-
1LossND
CBX2p.R161W
Missense
SNP
0.419
2-ND
CBX4p.P458S
Missense
SNP
0.482
2-ND
CC2D1Ap.A814T
Missense
SNP
0.609
2-ND
CC2D2Ap.P612L
p.E631K
Missense
Missense
SNP
SNP
0.452
0.467
2-ND
CCAR2-
-
-
-
1LossND
CCBE1-
-
-
-
1LossND
CCDC102B-
-
-
-
1LossND
CCDC107-
-
-
-
1LossND
CCDC112p.S439F
Missense
SNP
0.514
2-ND
CCDC12-
-
-
-
1LossND
CCDC122-
-
-
-
3GainND
CCDC127p.P8S
Missense
SNP
0.649
3GainND
CCDC129p.G203E
Missense
SNP
0.429
NDNDND
CCDC13-
-
-
-
1LossND
CCDC148p.I418*
Frame_Shift_Del
DEL
0.416
2-ND
CCDC15-
-
-
-
1LossND
CCDC152p.R251H
Missense
SNP
0.764
4GainND
CCDC153-
-
-
-
1LossND
CCDC166-
-
-
-
3GainND
CCDC168p.E6232K
p.R3382K
Missense
Missense
SNP
SNP
0.347
0.671
3GainND
CCDC169-
-
-
-
3GainND
CCDC169-SOHLH2-
-
-
-
3GainND
CCDC171-
-
-
-
1LossND
CCDC174-
-
-
-
1LossND
CCDC175p.M765I
Missense
SNP
0.473
2-ND
CCDC178-
-
-
-
1LossND
CCDC188p.G114K
Missense
MNP
0.495
2-ND
CCDC25-
-
-
-
1LossND
CCDC3-
-
-
-
3GainND
CCDC36-
-
-
-
1LossND
CCDC47p.R443*
Nonsense
SNP
0.408
2-ND
CCDC51-
-
-
-
1LossND
CCDC66-
-
-
-
1LossND
CCDC68-
-
-
-
1LossND
CCDC70-
-
-
-
3GainND
CCDC71-
-
-
-
1LossND
CCDC74B-
-
-
-
1LossND
CCDC84-
-
-
-
1LossND
CCDC88Cp.S1852Afs*213
Frame_Shift_Del
DEL
0.522
2-ND
CCIN-
-
-
-
1LossND
CCK-
-
-
-
1LossND
CCKBRp.L344Cfs*35
Frame_Shift_Del
DEL
0.451
2-ND
CCL19-
-
-
-
1LossND
CCL20p.S28Kfs*4
Frame_Shift_Ins
INS
0.349
2-ND
CCL21-
-
-
-
1LossND
CCL27-
-
-
-
1LossND
CCL28-
-
-
-
4GainND
CCNA1-
-
-
-
3GainND
CCNB3p.R1083K
Missense
SNP
1.000
NDNDND
CCNE2-
-
-
-
3GainND
CCNT1p.S715P
Missense
SNP
0.517
2-ND
CCR1-
-
-
-
1LossND
CCR2-
-
-
-
1LossND
CCR3-
-
-
-
1LossND
CCR4-
-
-
-
1LossND
CCR5-
-
-
-
1LossND
CCR8-
-
-
-
1LossND
CCR9-
-
-
-
1LossND
CCRL2-
-
-
-
1LossND
CCT5-
-
-
-
4GainND
CD1Dp.E20*
Nonsense
SNP
0.547
2-ND
CD226-
-
-
-
1LossND
CD274-
-
-
-
1LossND
CD3D-
-
-
-
1LossND
CD3E-
-
-
-
1LossND
CD3EAPp.N220Ifs*4
Frame_Shift_Del
DEL
0.619
2-ND
CD3G-
-
-
-
1LossND
CD72-
-
-
-
1LossND
CDADC1-
-
-
-
3GainND
CDC123-
-
-
-
3GainND
CDC16-
-
-
-
3GainND
CDC25A-
-
-
-
1LossND
CDC37L1-
-
-
-
1LossND
CDC73p.P113S
Missense
SNP
0.378
2-ND
CDCA2-
-
-
-
1LossND
CDCA4p.E230K
Missense
SNP
0.371
2-ND
CDCP1-
-
-
-
1LossND
CDH10p.S527Qfs*14
Frame_Shift_Ins
INS
0.180
4GainND
CDH11p.X548_splice
Splice_Site
SNP
0.505
2-ND
CDH12p.D429V
Missense
SNP
0.317
4GainND
CDH15p.H513Tfs*9
Frame_Shift_Del
DEL
0.442
2-ND
CDH17-
-
-
-
3GainND
CDH18-
-
-
-
4GainND
CDH19-
-
-
-
1LossND
CDH2p.E861K
Missense
SNP
1.000
1LossND
CDH20-
-
-
-
1LossND
CDH23p.N536S
Missense
SNP
0.468
2-ND
CDH4p.G849E
Missense
SNP
0.578
2-ND
CDH6p.Y419*
Nonsense
SNP
0.172
4GainND
CDH7-
-
-
-
1LossND
CDH9p.A485T
Missense
SNP
0.672
4GainND
CDHR2p.R383Afs*51
Frame_Shift_Del
DEL
0.472
2-ND
CDHR4-
-
-
-
1LossND
CDK12p.I730del
In_Frame_Del
DEL
0.450
2-ND
CDK18p.D340Mfs*59
Frame_Shift_Del
DEL
0.431
2-ND
CDK8-
-
-
-
3GainND
CDKN2Ap.P114L
Missense
SNP
1.000
1LossND
CDKN2B-
-
-
-
1LossND
CDNF-
-
-
-
3GainND
CDON-
-
-
-
1LossND
CDX2-
-
-
-
3GainND
CDYLp.S526L
Missense
SNP
0.421
2-ND
CEACAM18p.D237E
Missense
SNP
0.478
2-ND
CEACAM20p.H61Y
Missense
SNP
0.466
2-ND
CEBPD-
-
-
-
3GainND
CELF1p.C89Y
Missense
SNP
0.443
2-ND
CELF2-
-
-
-
3GainND
CELF4-
-
-
-
1LossND
CELF5p.E415K
Missense
SNP
0.531
2-ND
CELSR3-
-
-
-
1LossND
CENPJ-
-
-
-
3GainND
CENPNp.R60C
Missense
SNP
0.489
2-ND
CENPPp.E48K
Missense
SNP
0.367
2-ND
CEP164-
-
-
-
1LossND
CEP192p.E1195K
p.P2178S
Missense
Missense
SNP
SNP
0.520
0.490
2-ND
CEP57p.K462R
Missense
SNP
0.462
2-ND
CEP72-
-
-
-
3GainND
CER1-
-
-
-
1LossND
CFAP47p.S1555Ffs*14
p.Q2625Sfs*12
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.452
0.961
NDNDND
CFAP53-
-
-
-
1LossND
CFAP54p.R1557Efs*19
p.K2593E
Frame_Shift_Del
Missense
DEL
SNP
0.471
0.406
2-ND
CFAP61p.S919F
Missense
SNP
0.560
2-ND
CFAP65p.M633*
Frame_Shift_Del
DEL
0.486
2-ND
CFAP74p.Q950Pfs*52
Frame_Shift_Ins
INS
0.336
2-ND
CFHR3p.P214S
Missense
SNP
0.497
2-ND
CFI-
-
-
-
3GainND
CFTRp.P1205L
Missense
SNP
0.488
2-ND
CGAp.P95S
Missense
SNP
0.465
2-ND
CHAMP1-
-
-
-
3GainND
CHCHD4-
-
-
-
1LossND
CHCHD7-
-
-
-
3GainND
CHD4p.R975H
Missense
SNP
0.667
2-ND
CHD5p.D1382Y
Missense
SNP
0.456
2-ND
CHD6p.T90A
Missense
SNP
0.494
2-ND
CHD7p.T1497I
Missense
SNP
0.618
3GainND
CHDH-
-
-
-
1LossND
CHEK1-
-
-
-
1LossND
CHGBp.E211K
Missense
SNP
0.506
2-ND
CHL1p.S89L
p.P540S
Missense
Missense
SNP
SNP
0.457
0.455
2-ND
CHMP4C-
-
-
-
3GainND
CHMP5-
-
-
-
1LossND
CHMP7-
-
-
-
1LossND
CHN1p.L297R
Missense
SNP
0.500
2-ND
CHPFp.R415H
Missense
SNP
0.484
2-ND
CHRAC1-
-
-
-
3GainND
CHRM3p.K567Rfs*31
p.M131I
Frame_Shift_Del
Missense
DEL
SNP
0.514
0.504
2-ND
CHRNA2-
-
-
-
1LossND
CHRNA6-
-
-
-
1LossND
CHRNB3-
-
-
-
1LossND
CHST11p.R133W
Missense
SNP
0.469
2-ND
CHST7p.G361Rfs*15
Frame_Shift_Del
DEL
0.877
NDNDND
CHST9-
-
-
-
1LossND
CIB3p.L140*
Frame_Shift_Del
DEL
0.395
2-ND
CIDEC-
-
-
-
1LossND
CISD3p.X17_splice;p.D17N
Splice_Site
MNP
0.506
2-ND
CISH-
-
-
-
1LossND
CKAP2-
-
-
-
3GainND
CKAP2Lp.E325K
Missense
SNP
0.509
2-ND
CKMT2p.L383F
Missense
SNP
0.486
2-ND
CLASP2-
-
-
-
1LossND
CLCA1p.R209Dfs*7
Frame_Shift_Del
DEL
0.476
2-ND
CLCN3p.F388Lfs*9
Frame_Shift_Del
DEL
0.535
2-ND
CLCNKA-
-
-
-
1LossND
CLDN10-
-
-
-
3GainND
CLDN23-
-
-
-
1LossND
CLDN25-
-
-
-
1LossND
CLDN9p.L180Sfs*196
Frame_Shift_Del
DEL
0.460
2-ND
CLEC3B-
-
-
-
1LossND
CLIC5p.Q115P
Missense
SNP
0.475
2-ND
CLMP-
-
-
-
1LossND
CLN5-
-
-
-
3GainND
CLN6p.X181_splice
Splice_Site
SNP
0.570
2-ND
CLN8-
-
-
-
1LossND
CLPTM1L-
-
-
-
4GainND
CLTA-
-
-
-
1LossND
CLU-
-
-
-
1LossND
CLUHp.X810_splice
p.T315S
Splice_Site
Missense
SNP
SNP
0.503
0.550
2-ND
CLVS1-
-
-
-
3GainND
CLYBL-
-
-
-
3GainND
CMBL-
-
-
-
4GainND
CMC1-
-
-
-
1LossND
CMTM6-
-
-
-
1LossND
CMTM7-
-
-
-
1LossND
CMTM8-
-
-
-
1LossND
CNBD1p.R380*
p.R386K
Nonsense
Missense
SNP
SNP
0.538
0.595
3GainND
CNDP1-
-
-
-
1LossND
CNDP2-
-
-
-
1LossND
CNGB3-
-
-
-
3GainND
CNMD-
-
-
-
3GainND
CNOT10-
-
-
-
1LossND
CNOT7-
-
-
-
1LossND
CNTFR-
-
-
-
1LossND
CNTLNp.E286K
Missense
SNP
1.000
1LossND
CNTN3-
-
-
-
1LossND
CNTN5p.S379F
Missense
SNP
0.465
2-ND
CNTN6p.G744D
Missense
SNP
0.430
2-ND
CNTNAP1p.G322S
Missense
SNP
0.496
2-ND
CNTNAP3-
-
-
-
1LossND
CNTNAP3B-
-
-
-
1LossND
CNTNAP3C-
-
-
-
1LossND
CNTNAP4p.I442S
Missense
SNP
0.572
2-ND
COG3-
-
-
-
3GainND
COG6-
-
-
-
3GainND
COILp.K196Rfs*13
Frame_Shift_Del
DEL
0.886
2-ND
COL11A1p.G451S
Missense
SNP
0.524
2-ND
COL13A1p.X566_splice
Splice_Site
SNP
0.563
2-ND
COL14A1-
-
-
-
3GainND
COL15A1p.E435Sfs*25
p.G217D
Frame_Shift_Del
Missense
DEL
SNP
0.403
0.436
2-ND
COL22A1p.G771E
Missense
SNP
0.336
3GainND
COL24A1p.G873R
p.A722V
Missense
Missense
SNP
SNP
0.471
0.392
2-ND
COL25A1p.M519K
Missense
SNP
0.453
2-ND
COL2A1p.P122S
Missense
SNP
0.530
2-ND
COL3A1p.P1043S
Missense
SNP
0.509
2-ND
COL4A1p.R476W
Missense
SNP
0.345
3GainND
COL4A2p.G429E
p.G1408R
Missense
Missense
SNP
SNP
0.325
0.346
3GainND
COL4A3p.G880E
Missense
SNP
0.455
2-ND
COL4A4p.P635S
p.P78L
Missense
Missense
SNP
SNP
0.571
0.500
2-ND
COL4A6p.G624R
Missense
SNP
1.000
NDNDND
COL6A3p.T818S
Missense
SNP
0.581
2-ND
COL6A6p.R1295Q
p.G1296E
Missense
Missense
SNP
SNP
0.507
0.497
2-ND
COL7A1-
-
-
-
1LossND
COLCA2-
-
-
-
1LossND
COLEC10-
-
-
-
3GainND
COLQp.P203S
Missense
SNP
1.000
1LossND
COMMD5-
-
-
-
3GainND
COMMD6-
-
-
-
3GainND
COPS5-
-
-
-
3GainND
COPZ1.
Splice_Site
SNP
0.451
2-ND
COX6C-
-
-
-
5AmpND
CPA2p.R240W
Missense
SNP
0.482
2-ND
CPA6-
-
-
-
3GainND
CPAMD8p.V684A
Missense
SNP
0.413
2-ND
CPB2-
-
-
-
3GainND
CPLANE1-
-
-
-
4GainND
CPLX4-
-
-
-
1LossND
CPNE3-
-
-
-
3GainND
CPNE9-
-
-
-
1LossND
CPQ-
-
-
-
3GainND
CPS1p.R1459Q
Missense
SNP
0.471
2-ND
CPSF1-
-
-
-
3GainND
CRB1p.G330E
p.E1280V
Missense
Missense
SNP
SNP
0.435
0.441
2-ND
CREB3-
-
-
-
1LossND
CREBBPp.R1682H
Missense
SNP
0.503
2-ND
CRELD1-
-
-
-
1LossND
CRH-
-
-
-
3GainND
CRISPLD1-
-
-
-
3GainND
CROCCp.D736N
Missense
SNP
0.333
2-ND
CROCC2p.L996I
Missense
SNP
0.420
2-ND
CRTAM-
-
-
-
1LossND
CRTAP-
-
-
-
1LossND
CRYAB-
-
-
-
1LossND
CRYBB3p.R72K
Missense
SNP
0.392
2-ND
CSGALNACT1-
-
-
-
1LossND
CSGALNACT2p.Q37Pfs*3
Frame_Shift_Ins
INS
0.316
2-ND
CSKp.G85D
Missense
SNP
0.714
2-ND
CSMD1p.R2808C
p.T2488M
p.S1071F
Missense
Missense
Missense
SNP
SNP
SNP
0.991
1.000
1.000
1LossND
CSMD2p.P1130L
Missense
SNP
0.532
2-ND
CSMD3p.R3695Q
p.S3140F
p.E2508K
p.X1632_splice
p.L761Y
Missense
Missense
Missense
Splice_Site
Missense
SNP
SNP
SNP
SNP
MNP
0.282
0.269
0.365
0.322
0.624
3GainND
CSNK1A1L-
-
-
-
3GainND
CSPG5-
-
-
-
1LossND
CSPP1-
-
-
-
3GainND
CSRNP1-
-
-
-
1LossND
CTAGE1-
-
-
-
1LossND
CTB-50L17.10p.P444L
Missense
SNP
0.497
NDNDND
CTBP2p.A716D
Missense
SNP
0.476
2-ND
CTDP1-
-
-
-
1LossND
CTDSPL-
-
-
-
1LossND
CTHRC1-
-
-
-
3GainND
CTIF-
-
-
-
1LossND
CTLA4p.L28Ffs*44
Frame_Shift_Del
DEL
0.524
2-ND
CTNNB1-
-
-
-
1LossND
CTNNBL1p.K463Nfs*57
Frame_Shift_Del
DEL
0.375
2-ND
CTNND1p.V739Gfs*10
Frame_Shift_Del
DEL
0.424
2-ND
CTNND2-
-
-
-
4GainND
CTSB-
-
-
-
1LossND
CTSZp.I302V
Missense
SNP
0.417
2-ND
CUBNp.L3199F
p.S2028F
p.A1202T
p.C225V
Missense
Missense
Missense
Missense
SNP
SNP
SNP
MNP
0.275
0.375
0.665
0.286
3GainND
CUL1p.A619V
Missense
SNP
0.591
2-ND
CUL4A-
-
-
-
3GainND
CUL5-
-
-
-
1LossND
CWF19L2-
-
-
-
1LossND
CX3CR1-
-
-
-
1LossND
CXCR5-
-
-
-
1LossND
CXCR6-
-
-
-
1LossND
CXXC1-
-
-
-
1LossND
CYB561D2-
-
-
-
1LossND
CYB5A-
-
-
-
1LossND
CYC1-
-
-
-
3GainND
CYHR1-
-
-
-
3GainND
CYP11B1-
-
-
-
3GainND
CYP11B2-
-
-
-
3GainND
CYP27A1p.A30V
Missense
SNP
0.410
2-ND
CYP2B6p.S207L
Missense
SNP
0.413
2-ND
CYP2J2p.Q349*
Nonsense
SNP
0.500
2-ND
CYP4F22p.V195I
Missense
SNP
0.585
2-ND
CYP7A1-
-
-
-
3GainND
CYP7B1-
-
-
-
3GainND
CYP8B1-
-
-
-
1LossND
CYSLTR2-
-
-
-
3GainND
DAB2-
-
-
-
4GainND
DACH1-
-
-
-
3GainND
DACT2p.P252S
Missense
SNP
0.440
2-ND
DAG1-
-
-
-
1LossND
DAGLBp.P589Lfs*43
Frame_Shift_Del
DEL
0.451
2-ND
DALRD3-
-
-
-
1LossND
DAOA-
-
-
-
3GainND
DAP-
-
-
-
4GainND
DAPK1p.W305Gfs*7
Frame_Shift_Del
DEL
0.388
2-ND
DAZL-
-
-
-
1LossND
DCAF1-
-
-
-
1LossND
DCAF10-
-
-
-
1LossND
DCAF12-
-
-
-
1LossND
DCAF12L2p.P240L
Missense
SNP
1.000
NDNDND
DCAF13-
-
-
-
3GainND
DCAF4L2-
-
-
-
3GainND
DCAF8L2p.G28R
p.G319R
Missense
Missense
SNP
SNP
1.000
1.000
NDNDND
DCC-
-
-
-
1LossND
DCDC1p.A730V
Missense
SNP
0.543
2-ND
DCHS1p.L1345Tfs*66
Frame_Shift_Ins
INS
0.326
2-ND
DCHS2p.M967I
Missense
SNP
0.609
2-ND
DCLK1p.R389Q
Missense
SNP
0.648
3GainND
DCLK3-
-
-
-
1LossND
DCLRE1C-
-
-
-
3GainND
DCP1A-
-
-
-
1LossND
DCPS-
-
-
-
1LossND
DCSTAMPp.T5I
Missense
SNP
0.282
3GainND
DCT-
-
-
-
3GainND
DCTN2p.D206Rfs*2
Frame_Shift_Ins
INS
0.257
2-ND
DCTN3-
-
-
-
1LossND
DCTN4p.A168T
Missense
SNP
0.390
2-ND
DCTN6-
-
-
-
1LossND
DCUN1D2-
-
-
-
3GainND
DDCp.E173*
Nonsense
SNP
0.468
2-ND
DDHD2-
-
-
-
1LossND
DDOSTp.S101F
Missense
SNP
0.596
2-ND
DDX10-
-
-
-
1LossND
DDX25p.S28F
Missense
SNP
1.000
1LossND
DDX27p.P648L
Missense
SNP
0.490
2-ND
DDX4p.L704Efs*16
Frame_Shift_Del
DEL
0.419
2-ND
DDX43p.A62V
Missense
SNP
0.541
2-ND
DDX50p.D55N
Missense
SNP
0.481
2-ND
DDX51p.A63V
Missense
SNP
0.606
2-ND
DDX53p.L262F
Missense
SNP
1.000
NDNDND
DDX58-
-
-
-
1LossND
DDX6-
-
-
-
1LossND
DECR1-
-
-
-
3GainND
DEFA4-
-
-
-
1LossND
DEFA5-
-
-
-
1LossND
DEFA6-
-
-
-
1LossND
DEFB1-
-
-
-
1LossND
DEFB103A-
-
-
-
1LossND
DEFB103B-
-
-
-
1LossND
DEFB104A-
-
-
-
1LossND
DEFB104B-
-
-
-
1LossND
DEFB105A-
-
-
-
1LossND
DEFB105B-
-
-
-
1LossND
DEFB106A-
-
-
-
1LossND
DEFB106B-
-
-
-
1LossND
DEFB107A-
-
-
-
1LossND
DEFB107B-
-
-
-
1LossND
DEFB128p.N26I
Missense
SNP
0.500
2-ND
DEFB134-
-
-
-
1LossND
DEFB135-
-
-
-
1LossND
DEFB136-
-
-
-
1LossND
DEFB4A-
-
-
-
1LossND
DEFB4B-
-
-
-
1LossND
DENND3-
-
-
-
3GainND
DENND4Ap.G1893R
Missense
SNP
0.477
2-ND
DENND4C-
-
-
-
1LossND
DENND5Ap.E788K
Missense
SNP
0.479
2-ND
DENND5Bp.L312I
Missense
SNP
0.565
2-ND
DENND6A-
-
-
-
1LossND
DEPTOR-
-
-
-
3GainND
DERL1-
-
-
-
3GainND
DGAT1-
-
-
-
3GainND
DGKGp.G268E
Missense
SNP
0.444
2-ND
DGKH-
-
-
-
3GainND
DGKIp.K941E
Missense
SNP
0.539
2-ND
DHRS1p.P112S
Missense
SNP
0.304
2-ND
DHRS12-
-
-
-
3GainND
DHRS4p.P177L
Missense
SNP
0.506
2-ND
DHTKD1-
-
-
-
3GainND
DHX30-
-
-
-
1LossND
DIAPH3-
-
-
-
3GainND
DIDO1p.A422T
Missense
SNP
0.629
2-ND
DIP2C-
-
-
-
3GainND
DIRAS2p.G194S
Missense
SNP
0.610
2-ND
DIS3-
-
-
-
3GainND
DISP1p.A1087V
Missense
SNP
0.496
2-ND
DISP3p.L148P
p.P345S
Missense
Missense
SNP
SNP
0.463
0.477
2-ND
DIXDC1-
-
-
-
1LossND
DKK4-
-
-
-
1LossND
DLAT-
-
-
-
1LossND
DLC1p.R542K
Missense
SNP
1.000
1LossND
DLEC1-
-
-
-
1LossND
DLEU7-
-
-
-
3GainND
DLG4p.L118P
Missense
SNP
0.506
2-ND
DLGAP2-
-
-
-
1LossND
DMAC1-
-
-
-
1LossND
DMDp.P3086L
p.E2528K
p.E1536K
Missense
Missense
Missense
SNP
SNP
SNP
1.000
1.000
1.000
NDNDND
DMRT1-
-
-
-
1LossND
DMRT2-
-
-
-
1LossND
DMRT3-
-
-
-
1LossND
DMRTA1-
-
-
-
1LossND
DMTN-
-
-
-
1LossND
DMXL1p.G2925S
Missense
SNP
0.449
2-ND
DNAH1-
-
-
-
1LossND
DNAH10p.G2514E
p.D4216N
Missense
Missense
SNP
SNP
0.569
0.445
2-ND
DNAH11p.P2680S
Missense
SNP
0.405
2-ND
DNAH12-
-
-
-
1LossND
DNAH2p.R1991C
p.P3833L
p.T4149N
Missense
Missense
Missense
SNP
SNP
SNP
0.490
0.410
0.568
2-ND
DNAH3p.E2459K
p.G2436E
p.X1309_splice
p.P303L
p.V280M
Missense
Missense
Splice_Site
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.444
0.480
0.437
0.470
0.514
2-ND
DNAH5p.G4490E
Missense
SNP
0.248
4GainND
DNAH6p.R2028K
p.G4000E
Missense
Missense
SNP
SNP
0.485
0.554
2-ND
DNAH7p.A3007Pfs*6
p.E2144K
Frame_Shift_Del
Missense
DEL
SNP
0.428
0.433
2-ND
DNAI1-
-
-
-
1LossND
DNAJA1-
-
-
-
1LossND
DNAJB5p.E5K
Missense
SNP
1.000
1LossND
DNAJC15-
-
-
-
3GainND
DNAJC16p.P161S
p.E439K
Missense
Missense
SNP
SNP
0.434
0.463
2-ND
DNAJC21-
-
-
-
4GainND
DNAJC24p.I68Nfs*5
Frame_Shift_Ins
INS
0.315
2-ND
DNAJC3p.P490L
Missense
SNP
0.261
3GainND
DNAJC5B-
-
-
-
3GainND
DNAJC6p.D161E
Missense
SNP
0.514
2-ND
DNAJC9p.W97*
Nonsense
SNP
0.361
2-ND
DNASE1L3-
-
-
-
1LossND
DNERp.P102L
Missense
SNP
0.507
2-ND
DNHD1p.L2370F
Missense
SNP
0.456
2-ND
DNM1Lp.R416C
Missense
SNP
0.506
2-ND
DNM2p.K577N
Missense
SNP
0.474
2-ND
DNMBPp.S146F
Missense
SNP
0.553
2-ND
DOCK2p.Q1412*
p.X1461_splice
Nonsense
Splice_Site
SNP
SNP
0.546
0.531
2-ND
DOCK3-
-
-
-
1LossND
DOCK5-
-
-
-
1LossND
DOCK8-
-
-
-
1LossND
DOCK9-
-
-
-
3GainND
DOK1p.L12Cfs*26
Frame_Shift_Del
DEL
0.452
2-ND
DOK2-
-
-
-
1LossND
DOK6-
-
-
-
1LossND
DOPEY2p.F847Lfs*7
Frame_Shift_Del
DEL
0.536
NDNDND
DPAGT1-
-
-
-
1LossND
DPCR1p.E603K
p.G704E
p.S1050L
Missense
Missense
Missense
SNP
SNP
SNP
0.462
0.508
0.432
NDNDND
DPH3-
-
-
-
1LossND
DPP6p.R765K
Missense
SNP
0.482
2-ND
DPY19L4-
-
-
-
3GainND
DPYDp.F707Lfs*4
Frame_Shift_Del
DEL
0.052
2-ND
DPYS-
-
-
-
3GainND
DPYSL2-
-
-
-
1LossND
DRAM1p.V47I
Missense
SNP
0.497
2-ND
DRD1p.K138Rfs*6
Frame_Shift_Del
DEL
0.408
2-ND
DRD2-
-
-
-
1LossND
DROSHA-
-
-
-
4GainND
DSC1-
-
-
-
1LossND
DSC2-
-
-
-
1LossND
DSC3p.S526L
Missense
SNP
0.926
1LossND
DSCAMp.E572Gfs*32
Frame_Shift_Ins
INS
0.303
2-ND
DSCAML1-
-
-
-
1LossND
DSCC1-
-
-
-
3GainND
DSEL-
-
-
-
1LossND
DSG1p.G819D
Missense
SNP
0.056
1LossND
DSG2-
-
-
-
1LossND
DSG3-
-
-
-
1LossND
DSG4-
-
-
-
1LossND
DSPp.S2257L
Missense
SNP
0.480
2-ND
DSTp.K3804Nfs*2
Frame_Shift_Del
DEL
0.346
2-ND
DTNA-
-
-
-
1LossND
DUSP26-
-
-
-
1LossND
DUSP4-
-
-
-
1LossND
DUSP7-
-
-
-
1LossND
DYM-
-
-
-
1LossND
DYNAP-
-
-
-
1LossND
DYNC1LI1-
-
-
-
1LossND
DYRK3p.T456I
Missense
SNP
0.487
2-ND
DYX1C1p.I195*
Frame_Shift_Del
DEL
0.479
NDNDND
DZIP1-
-
-
-
3GainND
E2F5-
-
-
-
3GainND
EAF1-
-
-
-
1LossND
EBAG9-
-
-
-
3GainND
EBF2-
-
-
-
1LossND
EBLN2-
-
-
-
1LossND
EBPLp.F172Lfs*7
Frame_Shift_Del
DEL
0.669
3GainND
ECHDC3-
-
-
-
3GainND
ECHS1p.A84Pfs*23
Frame_Shift_Del
DEL
0.397
2-ND
EDNRB-
-
-
-
3GainND
EEF1AKMT1p.I43M
Missense
SNP
0.383
2-ND
EEF1D-
-
-
-
3GainND
EFCAB1-
-
-
-
3GainND
EFCAB6p.D113N
Missense
SNP
0.491
2-ND
EFCAB8p.S1198F
Missense
SNP
0.419
2-ND
EFHB-
-
-
-
1LossND
EFNA5p.E129K
Missense
SNP
0.447
2-ND
EFNB2-
-
-
-
3GainND
EFR3A-
-
-
-
3GainND
EGFL7p.R184Gfs*13
Frame_Shift_Del
DEL
0.393
2-ND
EGFLAMp.I41N
Missense
SNP
0.279
4GainND
EGR3-
-
-
-
1LossND
EHBP1L1p.T115M
Missense
SNP
0.495
2-ND
EI24-
-
-
-
1LossND
EIF1B-
-
-
-
1LossND
EIF2B2p.H188Y
Missense
SNP
0.608
2-ND
EIF3Dp.P340L
Missense
SNP
0.525
2-ND
EIF3E-
-
-
-
3GainND
EIF3H-
-
-
-
3GainND
EIF4E3-
-
-
-
1LossND
EIF4EBP1-
-
-
-
1LossND
ELAC1-
-
-
-
1LossND
ELAVL2-
-
-
-
1LossND
ELF1-
-
-
-
3GainND
ELK1p.G424R
Missense
SNP
1.000
NDNDND
ELK3p.V176Rfs*14
Frame_Shift_Ins
INS
0.251
2-ND
ELMOD1-
-
-
-
1LossND
ELOA2-
-
-
-
1LossND
ELOA3-
-
-
-
1LossND
ELOA3B-
-
-
-
1LossND
ELOA3C-
-
-
-
1LossND
ELOA3D-
-
-
-
1LossND
ELOC-
-
-
-
3GainND
ELP2-
-
-
-
1LossND
ELP3-
-
-
-
1LossND
ELP4p.V108A
Missense
SNP
0.494
2-ND
ELP6-
-
-
-
1LossND
EMC10p.A234G
Missense
SNP
0.452
2-ND
EMC2-
-
-
-
3GainND
EMC3-
-
-
-
1LossND
EMILIN1p.P279S
Missense
SNP
0.079
2-ND
EN2p.D244N
Missense
SNP
0.460
2-ND
ENDOD1p.R432C
Missense
SNP
0.547
2-ND
ENHO-
-
-
-
1LossND
ENO3p.S177F
p.E219K
Missense
Missense
SNP
SNP
0.533
0.433
2-ND
ENOX1-
-
-
-
3GainND
ENPP2p.G528R
Missense
SNP
0.320
3GainND
ENPP3p.R70L
Missense
SNP
0.496
2-ND
ENTPD3-
-
-
-
1LossND
ENTPD4-
-
-
-
1LossND
ENY2-
-
-
-
3GainND
EOGT-
-
-
-
1LossND
EOMES-
-
-
-
1LossND
EPAS1p.P397H
Missense
SNP
0.489
2-ND
EPB41L4Bp.L787F
Missense
SNP
1.000
2-ND
EPB41L5p.R131C
Missense
SNP
0.578
2-ND
EPG5-
-
-
-
1LossND
EPHB6p.A113V
Missense
SNP
0.211
2-ND
EPHX2-
-
-
-
1LossND
EPM2AIP1-
-
-
-
1LossND
EPN1p.P386Lfs*142
Frame_Shift_Del
DEL
0.437
2-ND
EPPK1-
-
-
-
3GainND
EPSTI1-
-
-
-
3GainND
EQTN-
-
-
-
1LossND
ERAP2p.Y184F
Missense
SNP
0.389
2-ND
ERBB2p.D1012N
Missense
SNP
0.483
2-ND
ERC2-
-
-
-
1LossND
ERCC5p.A525T
Missense
SNP
0.292
3GainND
ERI1-
-
-
-
1LossND
ERICH1-
-
-
-
1LossND
ERICH3p.T766Rfs*23
p.R66Q
Frame_Shift_Del
Missense
DEL
SNP
0.374
0.388
2-ND
ERICH5-
-
-
-
3GainND
ERICH6B-
-
-
-
3GainND
ERLIN2p.P97S
Missense
SNP
0.981
1LossND
ERMP1-
-
-
-
1LossND
ERO1Ap.M342Cfs*33
Frame_Shift_Del
DEL
0.436
2-ND
ESAM-
-
-
-
1LossND
ESCO2-
-
-
-
1LossND
ESD-
-
-
-
3GainND
ESPL1p.D577N
Missense
SNP
0.540
2-ND
ESR2p.P106S
Missense
SNP
0.485
2-ND
ESRP1-
-
-
-
3GainND
ESYT3p.P369F
Missense
MNP
0.435
2-ND
ETF1p.A187V
Missense
SNP
0.387
2-ND
ETNK2p.G290S
Missense
SNP
0.460
2-ND
ETS1-
-
-
-
1LossND
EVC2p.Q444H
Missense
SNP
0.481
2-ND
EXOC3-
-
-
-
3GainND
EXOC8p.K559Tfs*9
Frame_Shift_Ins
INS
0.243
2-ND
EXOG-
-
-
-
1LossND
EXOSC3-
-
-
-
1LossND
EXOSC4-
-
-
-
3GainND
EXOSC7-
-
-
-
1LossND
EXOSC8-
-
-
-
3GainND
EXPH5-
-
-
-
1LossND
EXT1-
-
-
-
3GainND
EXTL1p.V187A
Missense
SNP
0.539
2-ND
EXTL3-
-
-
-
1LossND
EYA1p.G194K
Missense
MNP
0.269
3GainND
EYA4p.G359E
Missense
SNP
0.333
2-ND
EYSp.L2286F
Missense
SNP
0.446
2-ND
F10-
-
-
-
3GainND
F7-
-
-
-
3GainND
F8p.E1101K
Missense
SNP
1.000
NDNDND
FAAP100p.C15Y
Missense
SNP
0.379
2-ND
FABP12-
-
-
-
3GainND
FABP4-
-
-
-
3GainND
FABP5-
-
-
-
3GainND
FABP9-
-
-
-
3GainND
FAM107A-
-
-
-
1LossND
FAM107B-
-
-
-
3GainND
FAM110Bp.P216L
Missense
SNP
0.360
3GainND
FAM118Ap.R78W
Missense
SNP
0.437
2-ND
FAM118B-
-
-
-
1LossND
FAM124A-
-
-
-
3GainND
FAM135Bp.V1308I
p.S1262C
Missense
Missense
SNP
SNP
0.293
0.667
3GainND
FAM149Ap.T39A
Missense
SNP
0.389
2-ND
FAM155A-
-
-
-
3GainND
FAM160B2-
-
-
-
1LossND
FAM162Bp.P36S
Missense
SNP
0.476
2-ND
FAM166B-
-
-
-
1LossND
FAM167A-
-
-
-
1LossND
FAM170Ap.G36E
Missense
SNP
0.587
2-ND
FAM171A1p.R575K
Missense
SNP
0.303
3GainND
FAM173B-
-
-
-
4GainND
FAM189A1p.*540Lext*74
Nonstop
SNP
0.539
2-ND
FAM189A2p.G179R
Missense
SNP
0.449
2-ND
FAM198A-
-
-
-
1LossND
FAM19A1-
-
-
-
1LossND
FAM19A4-
-
-
-
1LossND
FAM205A-
-
-
-
1LossND
FAM205C-
-
-
-
1LossND
FAM208A-
-
-
-
1LossND
FAM208B-
-
-
-
3GainND
FAM214B-
-
-
-
1LossND
FAM216B-
-
-
-
3GainND
FAM219A-
-
-
-
1LossND
FAM221B-
-
-
-
1LossND
FAM240A-
-
-
-
1LossND
FAM26Ep.F246Lfs*75
Frame_Shift_Del
DEL
0.462
NDNDND
FAM3D-
-
-
-
1LossND
FAM46Cp.R58W
Missense
SNP
0.533
NDNDND
FAM47Ap.K484N
p.R361C
Missense
Missense
SNP
SNP
1.000
1.000
NDNDND
FAM47Bp.E75K
p.V638A
Missense
Missense
SNP
SNP
1.000
1.000
NDNDND
FAM47Cp.P200Rfs*625
Frame_Shift_Del
DEL
0.875
NDNDND
FAM49B-
-
-
-
3GainND
FAM65Bp.L772F
Missense
SNP
0.575
NDNDND
FAM69C-
-
-
-
1LossND
FAM71F2p.R5K
Missense
SNP
0.378
2-ND
FAM83Ap.S47Ffs*2
Frame_Shift_Ins
INS
0.386
3GainND
FAM83H-
-
-
-
3GainND
FAM84B-
-
-
-
3GainND
FAM86B1-
-
-
-
1LossND
FAM91A1-
-
-
-
3GainND
FAM92A-
-
-
-
3GainND
FAM95C-
-
-
-
1LossND
FANCD2-
-
-
-
1LossND
FANCD2OS-
-
-
-
1LossND
FANCG-
-
-
-
1LossND
FAPp.C23Y
Missense
SNP
0.479
2-ND
FARP1-
-
-
-
3GainND
FARP2p.G189C
Missense
SNP
0.517
2-ND
FASNp.L1353Sfs*20
p.R1180L
Frame_Shift_Del
Missense
DEL
SNP
0.469
0.396
2-ND
FASTKD3p.D144Gfs*3
Frame_Shift_Ins
INS
0.081
4GainND
FAT1p.N126Kfs*3
p.G4102R
Frame_Shift_Ins
Missense
INS
SNP
0.273
0.446
2-ND
FAT2p.V2686Yfs*41
p.L1095Wfs*11
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.348
0.529
2-ND
FAT3p.P894L
p.R3634H
p.P4081S
Missense
Missense
Missense
SNP
SNP
SNP
0.463
0.471
0.513
2-ND
FAXDC2p.T259A
Missense
SNP
0.412
2-ND
FBH1-
-
-
-
3GainND
FBLN2-
-
-
-
1LossND
FBLN5p.P216L
Missense
SNP
0.528
2-ND
FBLN7p.H361Afs*125
Frame_Shift_Ins
INS
0.339
2-ND
FBN1p.G2199D
p.F2107S
Missense
Missense
SNP
SNP
0.516
0.542
2-ND
FBN3p.E1420K
Missense
SNP
0.387
2-ND
FBXL2-
-
-
-
1LossND
FBXL3-
-
-
-
3GainND
FBXL6-
-
-
-
3GainND
FBXL7-
-
-
-
4GainND
FBXO10-
-
-
-
1LossND
FBXO15-
-
-
-
1LossND
FBXO16-
-
-
-
1LossND
FBXO17p.F91Y
Missense
SNP
0.496
2-ND
FBXO25-
-
-
-
1LossND
FBXO3p.Y380H
Missense
SNP
0.448
2-ND
FBXO32-
-
-
-
3GainND
FBXO38p.M30T
Missense
SNP
0.526
2-ND
FBXO39p.T335I
Missense
SNP
0.522
2-ND
FBXO4-
-
-
-
4GainND
FBXO43-
-
-
-
3GainND
FBXW10p.G298R
Missense
SNP
0.385
2-ND
FBXW12-
-
-
-
1LossND
FCGBPp.L4042I
Missense
SNP
0.443
2-ND
FCN1p.R324W
Missense
SNP
0.472
2-ND
FCRL5p.H788Mfs*6
p.R751C
Frame_Shift_Del
Missense
DEL
SNP
0.548
0.447
2-ND
FDCSPp.D33N
Missense
SNP
0.425
2-ND
FDFT1-
-
-
-
1LossND
FDX1-
-
-
-
1LossND
FDXACB1-
-
-
-
1LossND
FECH-
-
-
-
1LossND
FER1L5p.E1036K
Missense
SNP
0.490
2-ND
FER1L6p.G588R
Missense
SNP
0.585
3GainND
FERMT3p.S255N
p.G396R
Missense
Missense
SNP
SNP
0.389
0.519
2-ND
FEZ1-
-
-
-
1LossND
FEZF2-
-
-
-
1LossND
FFAR2p.G300R
Missense
SNP
0.549
2-ND
FGAp.M858I
Missense
SNP
0.605
2-ND
FGBp.D346G
Missense
SNP
0.521
2-ND
FGD3p.V297M
Missense
SNP
0.556
2-ND
FGD5-
-
-
-
1LossND
FGF10-
-
-
-
4GainND
FGF14-
-
-
-
3GainND
FGF17-
-
-
-
1LossND
FGF20-
-
-
-
1LossND
FGF3p.I78K
Missense
SNP
0.436
2-ND
FGF9-
-
-
-
3GainND
FGFR1-
-
-
-
1LossND
FGFR4p.R758H
Missense
SNP
0.473
2-ND
FGL1p.N182Ifs*21
Frame_Shift_Del
DEL
1.000
1LossND
FHIT-
-
-
-
1LossND
FHOD3-
-
-
-
1LossND
FIBCD1p.F350L
Missense
SNP
0.405
2-ND
FILIP1Lp.K749Nfs*2
Frame_Shift_Del
DEL
0.413
2-ND
FKBP9p.L30M
Missense
SNP
0.384
2-ND
FLGp.S3580F
Missense
SNP
0.416
2-ND
FLG2p.A818S
p.H735Y
Missense
Missense
SNP
SNP
0.450
0.470
2-ND
FLI1-
-
-
-
1LossND
FLNB-
-
-
-
1LossND
FLT1-
-
-
-
3GainND
FLT3-
-
-
-
3GainND
FLYWCH1p.P4L
Missense
SNP
0.279
2-ND
FMN1p.G218E
Missense
SNP
0.553
2-ND
FMN2p.S747F
Missense
SNP
0.494
2-ND
FNBP4p.T99I
Missense
SNP
0.491
2-ND
FNDC3A-
-
-
-
3GainND
FNTA-
-
-
-
1LossND
FOCAD-
-
-
-
1LossND
FOXD4L5-
-
-
-
1LossND
FOXH1-
-
-
-
3GainND
FOXL1p.G290N
Missense
MNP
0.489
2-ND
FOXN2p.K107Nfs*60
Frame_Shift_Del
DEL
0.491
2-ND
FOXO1-
-
-
-
3GainND
FOXO6p.R463*
Nonsense
SNP
0.392
2-ND
FOXP1-
-
-
-
1LossND
FOXR1-
-
-
-
1LossND
FOXRED1p.T435I
Missense
SNP
1.000
1LossND
FOXS1p.T235M
Missense
SNP
0.519
2-ND
FPGT-TNNI3Kp.T212S
Missense
SNP
0.435
2-ND
FRAS1p.X3168_splice
Splice_Site
SNP
0.483
2-ND
FREM1-
-
-
-
1LossND
FREM2-
-
-
-
3GainND
FREM3p.P67L
Missense
SNP
0.375
2-ND
FRG2C-
-
-
-
1LossND
FRMD4A-
-
-
-
3GainND
FRMD4B-
-
-
-
1LossND
FRMPD1-
-
-
-
1LossND
FRY-
-
-
-
3GainND
FSBP-
-
-
-
3GainND
FSTL1p.D186N
Missense
SNP
0.504
2-ND
FSTL4p.G790Vfs*6
p.Q530*
Frame_Shift_Del
Nonsense
DEL
SNP
0.419
0.451
2-ND
FSTL5p.Q123Tfs*9
Frame_Shift_Ins
INS
0.339
2-ND
FTSJ3p.R634C
Missense
SNP
0.583
2-ND
FUCA1p.P236L
Missense
SNP
0.396
2-ND
FUT10-
-
-
-
1LossND
FXYD2-
-
-
-
1LossND
FXYD6-
-
-
-
1LossND
FXYD6-FXYD2-
-
-
-
1LossND
FYBp.K293Rfs*6
Frame_Shift_Del
DEL
0.268
NDNDND
FYB1-
-
-
-
4GainND
FYB2-
-
-
-
3GainND
FYCO1-
-
-
-
1LossND
FZD3-
-
-
-
1LossND
FZD6-
-
-
-
3GainND
FZR1p.V178M
Missense
SNP
0.439
2-ND
G2E3p.H301Tfs*7
Frame_Shift_Ins
INS
0.306
2-ND
G3BP2p.R132C
Missense
SNP
0.500
2-ND
GABPAp.L406F
Missense
SNP
1.000
2-ND
GABRA1p.P79L
Missense
SNP
0.500
2-ND
GABRDp.A441V
Missense
SNP
0.490
2-ND
GABRG1p.G271R
Missense
SNP
0.452
2-ND
GABRG2p.R344K
Missense
SNP
0.535
2-ND
GADL1-
-
-
-
1LossND
GAL3ST1p.K318N
Missense
SNP
0.463
2-ND
GALNT1-
-
-
-
1LossND
GALNT15-
-
-
-
1LossND
GALNTL6p.R422C
Missense
SNP
0.295
2-ND
GALR1-
-
-
-
1LossND
GALT-
-
-
-
1LossND
GAMTp.R63Pfs*22
Frame_Shift_Ins
INS
0.351
2-ND
GAR1-
-
-
-
3GainND
GAREM1-
-
-
-
1LossND
GAS2p.D111E
p.E170K
Missense
Missense
SNP
SNP
0.545
0.451
2-ND
GAS6-
-
-
-
3GainND
GATA3p.F410L
Missense
SNP
0.299
3GainND
GATA4-
-
-
-
1LossND
GATA6-
-
-
-
1LossND
GBA2-
-
-
-
1LossND
GBE1-
-
-
-
1LossND
GDAP1-
-
-
-
3GainND
GDF6-
-
-
-
3GainND
GDI2-
-
-
-
3GainND
GDNFp.A34V
Missense
SNP
0.759
4GainND
GEM-
-
-
-
3GainND
GFAPp.R36H
Missense
SNP
0.443
2-ND
GFRA2-
-
-
-
1LossND
GGACT-
-
-
-
3GainND
GGCXp.S398F
Missense
SNP
0.465
2-ND
GGH-
-
-
-
3GainND
GHR-
-
-
-
4GainND
GHRL-
-
-
-
1LossND
GIMAP6p.L115F
Missense
SNP
0.415
2-ND
GINS4-
-
-
-
1LossND
GK5p.H172N
Missense
SNP
0.482
2-ND
GLB1-
-
-
-
1LossND
GLB1L2p.M326I
Missense
SNP
1.000
1LossND
GLB1L3-
-
-
-
1LossND
GLDC-
-
-
-
1LossND
GLI4-
-
-
-
3GainND
GLIPR2-
-
-
-
1LossND
GLIS3-
-
-
-
1LossND
GLRA1p.D85N
Missense
SNP
0.435
2-ND
GLRA2p.M254I
Missense
SNP
1.000
NDNDND
GLT8D1-
-
-
-
1LossND
GLYCTK-
-
-
-
1LossND
GLYR1p.R381Afs*20
Frame_Shift_Del
DEL
0.458
2-ND
GML-
-
-
-
3GainND
GMPPB-
-
-
-
1LossND
GMPRp.P49S
Missense
SNP
0.534
2-ND
GNAI2-
-
-
-
1LossND
GNAT1-
-
-
-
1LossND
GNB3p.S122F
Missense
SNP
0.474
2-ND
GNE-
-
-
-
1LossND
GNG12p.T68Nfs*9
Frame_Shift_Ins
INS
0.308
2-ND
GNL3-
-
-
-
1LossND
GNRH1-
-
-
-
1LossND
GOLGA2p.Y989Tfs*9
Frame_Shift_Del
DEL
0.432
2-ND
GOLGA4p.A1738T
Missense
SNP
1.000
1LossND
GOLGA7-
-
-
-
1LossND
GOLGB1p.E1031K
Missense
SNP
0.506
2-ND
GOLPH3-
-
-
-
4GainND
GORASP1p.T425M
Missense
SNP
1.000
1LossND
GOT1L1-
-
-
-
1LossND
GP2p.G389W
Missense
SNP
0.559
2-ND
GPAA1-
-
-
-
3GainND
GPALPP1-
-
-
-
3GainND
GPAT4-
-
-
-
1LossND
GPATCH3p.F33S
Missense
SNP
0.579
2-ND
GPC5-
-
-
-
3GainND
GPC6-
-
-
-
3GainND
GPD1L-
-
-
-
1LossND
GPHB5p.C36S
Missense
SNP
0.534
2-ND
GPHNp.L289Afs*59
Frame_Shift_Ins
INS
0.287
2-ND
GPIHBP1-
-
-
-
3GainND
GPR12-
-
-
-
3GainND
GPR15p.A224V
Missense
SNP
0.477
2-ND
GPR156p.F612C
Missense
SNP
0.566
2-ND
GPR158p.E804K
Missense
SNP
0.534
2-ND
GPR179p.F613del
In_Frame_Del
DEL
0.433
2-ND
GPR18p.L238del
In_Frame_Del
DEL
0.284
3GainND
GPR180-
-
-
-
3GainND
GPR183-
-
-
-
3GainND
GPR20-
-
-
-
3GainND
GPR27-
-
-
-
1LossND
GPR52p.E248K
Missense
SNP
0.436
2-ND
GPR62-
-
-
-
1LossND
GPR68p.D259N
Missense
SNP
0.204
2-ND
GPRC5Dp.D308N
Missense
SNP
0.545
2-ND
GPRIN3p.N429K
Missense
SNP
0.541
2-ND
GPT-
-
-
-
3GainND
GPX1-
-
-
-
1LossND
GRAMD1B-
-
-
-
1LossND
GRASPp.E214Rfs*141
Frame_Shift_Ins
INS
0.338
2-ND
GREB1Lp.G2E
p.E263K
Missense
Missense
SNP
SNP
0.458
0.455
2-ND
GRHL2-
-
-
-
3GainND
GRHPR-
-
-
-
1LossND
GRIA2p.P403S
Missense
SNP
0.456
2-ND
GRIA4-
-
-
-
1LossND
GRID1p.X666_splice
Splice_Site
SNP
0.513
2-ND
GRID2p.M693I
Missense
SNP
0.392
2-ND
GRIK1p.D370N
Missense
SNP
1.000
2-ND
GRIK2p.N849Tfs*14
p.V766I
Frame_Shift_Del
Missense
DEL
SNP
0.424
0.512
2-ND
GRIK3p.R9Q
Missense
SNP
0.577
2-ND
GRIK4-
-
-
-
1LossND
GRIN2Ap.P985L
Missense
SNP
0.450
2-ND
GRINA-
-
-
-
3GainND
GRIP1p.P715S
Missense
SNP
0.481
2-ND
GRIP2-
-
-
-
1LossND
GRK1-
-
-
-
3GainND
GRM1p.S1064Y
p.A1156T
Missense
Missense
SNP
SNP
0.460
0.444
2-ND
GRM2-
-
-
-
1LossND
GRM7-
-
-
-
1LossND
GRP-
-
-
-
1LossND
GRTP1-
-
-
-
3GainND
GSDMC-
-
-
-
3GainND
GSDMD-
-
-
-
3GainND
GSG1p.R144Q
Missense
SNP
0.557
2-ND
GSG1L2p.G285N
Missense
MNP
0.568
2-ND
GSG2p.E347K
Missense
SNP
0.458
NDNDND
GSPT2p.N246Tfs*11
Frame_Shift_Del
DEL
0.200
NDNDND
GSR-
-
-
-
1LossND
GSX1-
-
-
-
3GainND
GTF2A2p.Q16R
Missense
SNP
0.524
2-ND
GTF2E2-
-
-
-
1LossND
GTF2F2-
-
-
-
3GainND
GTF2IRD1p.E324K
Missense
SNP
0.563
2-ND
GTF3A-
-
-
-
3GainND
GTF3C1p.S767Vfs*7
Frame_Shift_Del
DEL
0.436
2-ND
GTPBP4-
-
-
-
3GainND
GTSE1p.Y102H
Missense
SNP
0.466
2-ND
GUCY1A2-
-
-
-
1LossND
GUCY1A3p.P60A
Missense
SNP
0.421
NDNDND
GXYLT1p.H327Sfs*2
Frame_Shift_Ins
INS
0.299
2-ND
GXYLT2-
-
-
-
1LossND
H2AFX-
-
-
-
1LossND
HAAOp.X27_splice
Splice_Site
SNP
0.568
2-ND
HACD1-
-
-
-
3GainND
HACD4-
-
-
-
1LossND
HACL1-
-
-
-
1LossND
HARBI1p.Y48N
Missense
SNP
0.456
2-ND
HAS2-
-
-
-
3GainND
HAUS1-
-
-
-
1LossND
HAUS6-
-
-
-
1LossND
HCFC2p.P587L
Missense
SNP
0.316
2-ND
HCN1-
-
-
-
4GainND
HCN4p.A133T
Missense
SNP
0.472
2-ND
HDAC11-
-
-
-
1LossND
HDAC2p.V12Sfs*20
Frame_Shift_Del
DEL
0.630
2-ND
HDAC4p.M902Wfs*55
Frame_Shift_Del
DEL
0.456
2-ND
HDAC9p.G197E
Missense
SNP
0.530
2-ND
HDDC2p.Q131K
Missense
SNP
0.482
2-ND
HDHD2-
-
-
-
1LossND
HEATR1p.H705Y
Missense
SNP
0.494
2-ND
HEATR6p.S389F
Missense
SNP
0.479
2-ND
HECAp.G335Dfs*27
Frame_Shift_Del
DEL
0.429
2-ND
HEG1p.A89T
Missense
SNP
0.615
2-ND
HELBp.D1083N
Missense
SNP
0.593
2-ND
HELQp.N271Mfs*3
Frame_Shift_Del
DEL
0.495
2-ND
HELZ2p.V2395G
Missense
SNP
0.507
2-ND
HEMK1-
-
-
-
1LossND
HEPACAM-
-
-
-
1LossND
HEPN1-
-
-
-
1LossND
HERC2p.E1430Sfs*16
p.V2786M
Frame_Shift_Del
Missense
DEL
SNP
0.467
0.538
2-ND
HESX1-
-
-
-
1LossND
HEY1-
-
-
-
3GainND
HGH1-
-
-
-
3GainND
HGSNAT-
-
-
-
1LossND
HHATL-
-
-
-
1LossND
HHLA1-
-
-
-
3GainND
HHLA2p.S105P
Missense
SNP
0.473
2-ND
HIC1p.G641R
Missense
SNP
0.517
2-ND
HIC2p.A421T
Missense
SNP
0.453
2-ND
HID1p.P442L
Missense
SNP
0.507
2-ND
HINFP-
-
-
-
1LossND
HINT2-
-
-
-
1LossND
HIPK4p.G409D
Missense
SNP
0.455
2-ND
HIST1H3Ap.C111S
Missense
SNP
0.414
2-ND
HIVEP1p.X14_splice
Splice_Site
SNP
0.424
2-ND
HIVEP3p.T516I
Missense
SNP
0.406
2-ND
HMBOX1-
-
-
-
1LossND
HMBS-
-
-
-
1LossND
HMCN1p.D1229Y
Missense
SNP
0.452
2-ND
HMGB1-
-
-
-
3GainND
HMGCS1p.P170L
Missense
SNP
0.706
4GainND
HMGN4p.G55E
Missense
SNP
0.504
2-ND
HMSD-
-
-
-
1LossND
HNF4G-
-
-
-
3GainND
HOOK3-
-
-
-
1LossND
HOXA3p.S190L
Missense
SNP
0.436
2-ND
HR-
-
-
-
1LossND
HRCT1-
-
-
-
1LossND
HRH1-
-
-
-
1LossND
HRH4-
-
-
-
1LossND
HS6ST3-
-
-
-
3GainND
HSBP1L1-
-
-
-
1LossND
HSD11B2p.D323N
Missense
SNP
0.490
2-ND
HSF1-
-
-
-
3GainND
HSF2p.R71C
Missense
SNP
0.481
2-ND
HSF4p.P323Afs*29
Frame_Shift_Ins
INS
0.311
2-ND
HSPA14-
-
-
-
3GainND
HSPA8-
-
-
-
1LossND
HSPB2-
-
-
-
1LossND
HSPB2-C11orf52-
-
-
-
1LossND
HSPH1-
-
-
-
3GainND
HTD2-
-
-
-
1LossND
HTR2A-
-
-
-
3GainND
HTR3A-
-
-
-
1LossND
HTR3B-
-
-
-
1LossND
HTR7p.L305F
Missense
SNP
0.490
2-ND
HTRA4-
-
-
-
1LossND
HTTp.S1055L
Missense
SNP
0.495
2-ND
HUWE1p.V4306A
Missense
SNP
1.000
NDNDND
HYAL1-
-
-
-
1LossND
HYAL2-
-
-
-
1LossND
HYAL3-
-
-
-
1LossND
HYLS1-
-
-
-
1LossND
HYOU1-
-
-
-
1LossND
IBA57p.P68L
Missense
SNP
0.537
2-ND
IBTKp.X792_splice;p.E792K
Splice_Site
MNP
0.557
2-ND
ICAM5p.S735F
Missense
SNP
0.414
2-ND
ICE1-
-
-
-
4GainND
IDI1-
-
-
-
3GainND
IDI2-
-
-
-
3GainND
IDO1-
-
-
-
1LossND
IDO2-
-
-
-
1LossND
IER3IP1-
-
-
-
1LossND
IFNA1-
-
-
-
1LossND
IFNA10-
-
-
-
1LossND
IFNA13-
-
-
-
1LossND
IFNA14-
-
-
-
1LossND
IFNA16-
-
-
-
1LossND
IFNA17-
-
-
-
1LossND
IFNA2-
-
-
-
1LossND
IFNA21-
-
-
-
1LossND
IFNA4-
-
-
-
1LossND
IFNA5-
-
-
-
1LossND
IFNA6-
-
-
-
1LossND
IFNA7p.V11M
Missense
SNP
0.053
1LossND
IFNA8-
-
-
-
1LossND
IFNB1-
-
-
-
1LossND
IFNE-
-
-
-
1LossND
IFNK-
-
-
-
1LossND
IFNW1-
-
-
-
1LossND
IFRD2-
-
-
-
1LossND
IFT122p.P918S
Missense
SNP
0.500
2-ND
IFT46-
-
-
-
1LossND
IFT74-
-
-
-
1LossND
IFT81p.E356Rfs*5
Frame_Shift_Ins
INS
0.339
2-ND
IGF2Rp.P857L
Missense
SNP
0.544
2-ND
IGFBPL1-
-
-
-
1LossND
IGKV1-16p.F105I
Missense
SNP
0.523
NDNDND
IGLV3-12p.P116L
Missense
SNP
0.513
NDNDND
IGSF10p.C33W
Missense
SNP
0.483
2-ND
IGSF9B-
-
-
-
1LossND
IKBKB-
-
-
-
1LossND
IKZF1p.G141E
Missense
SNP
0.494
2-ND
IL10RA-
-
-
-
1LossND
IL11RA-
-
-
-
1LossND
IL12Bp.S281R
Missense
SNP
0.321
2-ND
IL15RA-
-
-
-
3GainND
IL16p.P499S
Missense
SNP
0.492
2-ND
IL17RB-
-
-
-
1LossND
IL17RC-
-
-
-
1LossND
IL17RD-
-
-
-
1LossND
IL17RE-
-
-
-
1LossND
IL18-
-
-
-
1LossND
IL1RAPp.V466A
Missense
SNP
0.531
2-ND
IL2RA-
-
-
-
3GainND
IL31RAp.S744L
Missense
SNP
0.525
2-ND
IL33-
-
-
-
1LossND
IL4I1p.G118Afs*40
Frame_Shift_Del
DEL
0.490
2-ND
IL7-
-
-
-
3GainND
IL7R-
-
-
-
4GainND
ILKp.H172L
Missense
SNP
0.523
2-ND
IMPA1-
-
-
-
3GainND
IMPACT-
-
-
-
1LossND
IMPAD1-
-
-
-
3GainND
IMPDH2-
-
-
-
1LossND
IMPG2p.P237S
Missense
SNP
0.453
2-ND
INF2p.S154F
Missense
SNP
0.500
2-ND
ING1-
-
-
-
3GainND
INKA1-
-
-
-
1LossND
INO80C-
-
-
-
1LossND
INO80Dp.P233S
Missense
SNP
0.530
2-ND
INPP4Ap.R885C
Missense
SNP
0.559
2-ND
INPP5Dp.P1033S
Missense
SNP
0.417
2-ND
INSL4-
-
-
-
1LossND
INSL5p.P78L
Missense
SNP
0.416
2-ND
INSL6-
-
-
-
1LossND
INTS10-
-
-
-
1LossND
INTS6-
-
-
-
3GainND
INTS8-
-
-
-
3GainND
INTS9-
-
-
-
1LossND
INVSp.I447V
Missense
SNP
1.000
2-ND
IP6K1-
-
-
-
1LossND
IP6K2-
-
-
-
1LossND
IPO5-
-
-
-
3GainND
IPO9p.S634F
Missense
SNP
0.557
2-ND
IPPp.A517V
Missense
SNP
0.462
2-ND
IPPKp.G289D
Missense
SNP
0.504
2-ND
IQANK1-
-
-
-
3GainND
IQCF1-
-
-
-
1LossND
IQCF2-
-
-
-
1LossND
IQCF3-
-
-
-
1LossND
IQCF5-
-
-
-
1LossND
IQCF6-
-
-
-
1LossND
IQGAP3p.Q1205Sfs*31
Frame_Shift_Del
DEL
0.417
2-ND
IQSEC1-
-
-
-
1LossND
IQSEC3p.P666L
Missense
SNP
0.473
2-ND
IRAK2-
-
-
-
1LossND
IRF2BP1p.L123Cfs*39
Frame_Shift_Del
DEL
0.353
2-ND
IRF2BPLp.A288V
Missense
SNP
0.611
2-ND
IRF4p.R98W
Missense
SNP
0.489
2-ND
IRS2-
-
-
-
3GainND
IRX1-
-
-
-
4GainND
IRX2-
-
-
-
4GainND
IRX4p.S108L
Missense
SNP
0.240
4GainND
IRX6p.G323E
Missense
SNP
0.500
2-ND
ISG20L2p.L306F
Missense
SNP
0.554
2-ND
ITFG2p.G181C
Missense
SNP
0.584
2-ND
ITGA8-
-
-
-
3GainND
ITGA9-
-
-
-
1LossND
ITGAEp.T435A
Missense
SNP
0.529
2-ND
ITGAVp.S190G
Missense
SNP
0.578
2-ND
ITGB3BPp.L106W
Missense
SNP
0.457
2-ND
ITGB4p.A315T
Missense
SNP
0.505
2-ND
ITGBL1p.G213R
Missense
SNP
0.638
3GainND
ITIH1-
-
-
-
1LossND
ITIH2-
-
-
-
3GainND
ITIH3-
-
-
-
1LossND
ITIH4-
-
-
-
1LossND
ITIH5-
-
-
-
3GainND
ITKp.G354E
Missense
SNP
0.500
2-ND
ITM2B-
-
-
-
3GainND
ITPR1p.F662L
Missense
SNP
0.509
2-ND
IWS1p.R547C
Missense
SNP
0.426
2-ND
IZUMO3-
-
-
-
1LossND
JAGN1-
-
-
-
1LossND
JAK2-
-
-
-
1LossND
JAK3p.S897N
Missense
SNP
0.503
2-ND
JAKMIP1p.Q666*
Nonsense
SNP
0.437
2-ND
JAM3-
-
-
-
1LossND
JAML-
-
-
-
1LossND
JHY-
-
-
-
1LossND
JOSD2p.*189Wext*?
Nonstop
SNP
0.500
2-ND
JPH1-
-
-
-
3GainND
JRK-
-
-
-
3GainND
KANK1-
-
-
-
1LossND
KANSL1p.G204Vfs*2
Frame_Shift_Del
DEL
0.212
2-ND
KAT2B-
-
-
-
1LossND
KAT5p.R244H
Missense
SNP
0.432
2-ND
KAT6A-
-
-
-
1LossND
KAT6Bp.P1759S
Missense
SNP
0.498
2-ND
KATNAL1-
-
-
-
3GainND
KATNAL2-
-
-
-
1LossND
KAZNp.L91F
Missense
SNP
0.558
2-ND
KBTBD11-
-
-
-
1LossND
KBTBD11-OT1-
-
-
-
1LossND
KBTBD3-
-
-
-
1LossND
KBTBD6-
-
-
-
3GainND
KBTBD7-
-
-
-
3GainND
KBTBD8-
-
-
-
1LossND
KCNA4p.R240C
p.C151R
Missense
Missense
SNP
SNP
0.480
0.494
2-ND
KCNB2-
-
-
-
3GainND
KCNC1p.S444F
Missense
SNP
0.532
2-ND
KCNG2-
-
-
-
1LossND
KCNH6p.P867S
Missense
SNP
0.316
2-ND
KCNH8-
-
-
-
1LossND
KCNJ1-
-
-
-
1LossND
KCNJ5p.T100A
Missense
SNP
1.000
1LossND
KCNK18p.M348I
Missense
SNP
0.519
2-ND
KCNK5p.A221V
Missense
SNP
0.532
2-ND
KCNK9-
-
-
-
3GainND
KCNQ3p.G724Dfs*28
Frame_Shift_Del
DEL
0.573
3GainND
KCNRG-
-
-
-
3GainND
KCNS2-
-
-
-
3GainND
KCNT1p.D1168G
Missense
SNP
0.536
2-ND
KCNT2p.S385R
Missense
SNP
0.534
2-ND
KCNU1-
-
-
-
1LossND
KCNV1-
-
-
-
3GainND
KCNV2-
-
-
-
1LossND
KCTD1-
-
-
-
1LossND
KCTD12-
-
-
-
3GainND
KCTD4-
-
-
-
3GainND
KCTD6-
-
-
-
1LossND
KCTD9-
-
-
-
1LossND
KDELC1-
-
-
-
3GainND
KDELC2-
-
-
-
1LossND
KDF1p.S137Afs*111
Frame_Shift_Del
DEL
0.604
2-ND
KDM1Ap.K297Dfs*51
Frame_Shift_Del
DEL
0.461
2-ND
KDM4Bp.R329H
Missense
SNP
0.303
2-ND
KDM4C-
-
-
-
1LossND
KDM4Dp.K93Rfs*4
Frame_Shift_Del
DEL
0.513
2-ND
KDM4Ep.F258L
Missense
SNP
0.400
2-ND
KDSR-
-
-
-
1LossND
KHDRBS1p.A82S
Missense
SNP
0.573
2-ND
KHDRBS2p.S87F
Missense
SNP
0.537
2-ND
KHDRBS3p.S292G
Missense
SNP
0.358
3GainND
KIAA0513p.F312Lfs*32
Frame_Shift_Del
DEL
0.407
2-ND
KIAA0922p.T1376I
Missense
SNP
0.511
NDNDND
KIAA1107p.R692K
Missense
SNP
0.548
NDNDND
KIAA1143-
-
-
-
1LossND
KIAA1211p.V119A
Missense
SNP
0.580
2-ND
KIAA1211Lp.S3F
Missense
SNP
0.512
2-ND
KIAA1328-
-
-
-
1LossND
KIAA1549p.R1106Q
p.W420*
Missense
Nonsense
SNP
MNP
0.427
0.458
2-ND
KIAA1551p.I93M
p.P1659L
Missense
Missense
SNP
SNP
0.497
0.479
2-ND
KIAA1671p.P385S
p.D1404N
Missense
Missense
SNP
SNP
0.520
0.550
2-ND
KIAA1755p.P4L
Missense
SNP
0.583
2-ND
KIAA2026-
-
-
-
1LossND
KIF11p.R1051*
Nonsense
SNP
0.448
2-ND
KIF13B-
-
-
-
1LossND
KIF15-
-
-
-
1LossND
KIF16Bp.N274Kfs*3
Frame_Shift_Ins
INS
0.348
2-ND
KIF17p.E592Gfs*67
Frame_Shift_Ins
INS
0.295
2-ND
KIF21Bp.T1295M
Missense
SNP
0.544
2-ND
KIF24-
-
-
-
1LossND
KIF25p.Q352*
Nonsense
SNP
0.578
2-ND
KIF2Ap.E237Rfs*8
Frame_Shift_Ins
INS
0.307
2-ND
KIF4Bp.R256C
Missense
SNP
0.544
2-ND
KIF5Ap.T317A
Missense
SNP
0.450
2-ND
KIF5Cp.S282N
Missense
SNP
0.512
2-ND
KIF9-
-
-
-
1LossND
KIFC2-
-
-
-
3GainND
KIN-
-
-
-
3GainND
KIRRELp.P393L
Missense
SNP
0.571
NDNDND
KIRREL2p.G355S
Missense
SNP
0.472
2-ND
KIRREL3-
-
-
-
1LossND
KL-
-
-
-
3GainND
KLF10-
-
-
-
3GainND
KLF11p.G346R
p.T364I
Missense
Missense
SNP
SNP
0.469
0.536
2-ND
KLF12-
-
-
-
3GainND
KLF5-
-
-
-
3GainND
KLF6-
-
-
-
3GainND
KLHDC8B-
-
-
-
1LossND
KLHL1p.W727*
Nonsense
SNP
0.642
3GainND
KLHL10p.D552N
Missense
SNP
0.542
2-ND
KLHL14-
-
-
-
1LossND
KLHL18-
-
-
-
1LossND
KLHL38-
-
-
-
3GainND
KLHL4p.Q27*
Nonsense
SNP
0.987
NDNDND
KLHL40-
-
-
-
1LossND
KLHL9-
-
-
-
1LossND
KLK3p.W29*
Nonsense
SNP
0.478
2-ND
KLKB1p.P440S
Missense
SNP
0.423
2-ND
KLRG2p.C396Y
Missense
SNP
0.477
2-ND
KMT2A-
-
-
-
1LossND
KMT2Bp.P1821Hfs*74
p.L1071M
Frame_Shift_Del
Missense
DEL
SNP
0.378
0.473
2-ND
KMT2Ep.V1184E
Missense
SNP
0.526
2-ND
KNSTRNp.F34L
Missense
SNP
0.411
2-ND
KPNA3-
-
-
-
3GainND
KPNA5p.R30Q
Missense
SNP
0.561
2-ND
KRASp.E63K
Missense
SNP
0.388
2-ND
KRBOX1-
-
-
-
1LossND
KRT26p.A151V
Missense
SNP
0.396
2-ND
KRT33Bp.T401I
Missense
SNP
0.500
2-ND
KRT6Bp.E473K
Missense
SNP
0.552
2-ND
KRTAP19-3p.G51E
Missense
SNP
1.000
2-ND
KRTAP25-1p.S5F
Missense
SNP
1.000
2-ND
KRTAP5-8p.S56Lfs*37
Frame_Shift_Ins
INS
0.352
2-ND
KRTAP6-1p.R43H
Missense
SNP
0.542
2-ND
L1CAMp.R554C
Missense
SNP
1.000
NDNDND
L3MBTL1p.D552K
Missense
MNP
0.455
2-ND
LACC1-
-
-
-
3GainND
LACTB2-
-
-
-
3GainND
LAMA1p.H1350Y
Missense
SNP
0.455
2-ND
LAMA3-
-
-
-
1LossND
LAMA5p.W3447*
p.X3169_splice
p.R2193C
Nonsense
Splice_Site
Missense
SNP
SNP
SNP
0.534
0.500
0.516
2-ND
LAMB2-
-
-
-
1LossND
LAMP1-
-
-
-
3GainND
LAPTM4B-
-
-
-
3GainND
LARP4B-
-
-
-
3GainND
LARS2-
-
-
-
1LossND
LATS1p.L695F
Missense
SNP
0.331
2-ND
LATS2-
-
-
-
3GainND
LAYN-
-
-
-
1LossND
LCA5p.W436L
Missense
SNP
0.404
2-ND
LCORp.A303V
Missense
SNP
0.581
2-ND
LCP1-
-
-
-
3GainND
LCTp.G531R
Missense
SNP
0.450
2-ND
LDB3p.A222V
Missense
SNP
0.485
2-ND
LDHAL6Bp.N162Y
Missense
SNP
0.527
2-ND
LEPRp.W319*
p.G1131E
Nonsense
Missense
SNP
SNP
0.323
0.500
2-ND
LEPROTL1-
-
-
-
1LossND
LETM2-
-
-
-
1LossND
LGI3-
-
-
-
1LossND
LGR6p.P466L
Missense
MNP
0.387
2-ND
LHFPL4-
-
-
-
1LossND
LHFPL5p.D85N
Missense
SNP
0.523
2-ND
LHFPL6-
-
-
-
3GainND
LHX6p.L209F
Missense
SNP
1.000
2-ND
LIFR-
-
-
-
4GainND
LIG3p.N125Kfs*11
Frame_Shift_Ins
INS
0.305
2-ND
LIG4-
-
-
-
3GainND
LILRB1p.X24_splice
p.V463L
Splice_Site
Missense
SNP
SNP
0.350
0.429
2-ND
LIMD1-
-
-
-
1LossND
LIN7Ap.K126N
Missense
SNP
0.280
2-ND
LINGO2-
-
-
-
1LossND
LIPG-
-
-
-
1LossND
LMAN1-
-
-
-
1LossND
LMBRD2p.R219Gfs*6
Frame_Shift_Del
DEL
0.267
4GainND
LMCD1-
-
-
-
1LossND
LMO7-
-
-
-
3GainND
LMOD3-
-
-
-
1LossND
LNX2p.H623Y
Missense
SNP
0.636
3GainND
LONRF1-
-
-
-
1LossND
LOXHD1p.G358R
Missense
SNP
0.992
1LossND
LOXL2-
-
-
-
1LossND
LPAR6-
-
-
-
3GainND
LPCAT1-
-
-
-
4GainND
LPIN1p.R171G
Missense
SNP
0.461
2-ND
LPIN2p.P327L
Missense
SNP
0.329
2-ND
LPL-
-
-
-
1LossND
LPOp.S291F
Missense
SNP
0.426
2-ND
LRCH1-
-
-
-
3GainND
LRFN2p.T686M
Missense
SNP
0.461
2-ND
LRFN3p.L39P
Missense
SNP
0.500
2-ND
LRIG1-
-
-
-
1LossND
LRIT3p.P121L
Missense
SNP
0.663
3GainND
LRP1p.D4193Rfs*9
Frame_Shift_Ins
INS
0.297
2-ND
LRP12-
-
-
-
3GainND
LRP1Bp.K2543Nfs*42
p.D2709N
Frame_Shift_Del
Missense
DEL
SNP
0.500
0.492
2-ND
LRP2p.G243R
Missense
SNP
0.509
2-ND
LRP8p.A454T
Missense
SNP
0.454
2-ND
LRRC14-
-
-
-
3GainND
LRRC14B-
-
-
-
3GainND
LRRC15p.R302W
p.S132N
Missense
Missense
SNP
SNP
0.540
0.542
2-ND
LRRC19-
-
-
-
1LossND
LRRC2-
-
-
-
1LossND
LRRC24-
-
-
-
3GainND
LRRC32p.L559M
Missense
SNP
0.603
2-ND
LRRC37Bp.T465I
Missense
SNP
0.579
2-ND
LRRC3B-
-
-
-
1LossND
LRRC3Cp.S254F
Missense
SNP
0.487
2-ND
LRRC43p.T270I
p.G517R
Missense
Missense
SNP
SNP
0.491
0.466
2-ND
LRRC4Cp.T525N
Missense
SNP
0.259
2-ND
LRRC6-
-
-
-
3GainND
LRRC63-
-
-
-
3GainND
LRRC69-
-
-
-
3GainND
LRRC72p.G201E
Missense
SNP
0.524
2-ND
LRRCC1-
-
-
-
3GainND
LRRD1p.P250S
Missense
SNP
0.542
2-ND
LRRFIP2-
-
-
-
1LossND
LRRIQ1p.E1539Kfs*20
Frame_Shift_Del
DEL
0.405
2-ND
LRRIQ3p.H13N
Missense
SNP
0.514
2-ND
LRRIQ4p.P158L
Missense
SNP
0.508
2-ND
LRRK2p.H1584Y
Missense
SNP
0.471
2-ND
LRRN3p.E417K
Missense
SNP
0.477
2-ND
LRRTM1p.Q486K
Missense
SNP
0.389
2-ND
LRRTM3p.E413K
Missense
SNP
0.553
2-ND
LRRTM4p.P173S
Missense
SNP
0.503
2-ND
LRTM1-
-
-
-
1LossND
LSM1-
-
-
-
1LossND
LSM3-
-
-
-
1LossND
LSMEM2-
-
-
-
1LossND
LSRp.X366_splice
Splice_Site
SNP
0.472
2-ND
LTBP4p.E515D
Missense
SNP
0.594
2-ND
LTF-
-
-
-
1LossND
LTV1p.P390L
Missense
SNP
0.557
2-ND
LURAP1L-
-
-
-
1LossND
LY6D-
-
-
-
3GainND
LY6E-
-
-
-
3GainND
LY6H-
-
-
-
3GainND
LY6K-
-
-
-
3GainND
LY6L-
-
-
-
3GainND
LY96-
-
-
-
3GainND
LYG1p.X15_splice
Splice_Site
DEL
0.469
2-ND
LYN-
-
-
-
3GainND
LYNX1-
-
-
-
3GainND
LYNX1-SLURP2-
-
-
-
3GainND
LYPD2-
-
-
-
3GainND
LYPLA1-
-
-
-
3GainND
LYRM9p.P53S
Missense
SNP
0.429
2-ND
LYSTp.R2225H
p.P319L
Missense
Missense
SNP
SNP
0.503
0.458
2-ND
LYZL4-
-
-
-
1LossND
LZTFL1-
-
-
-
1LossND
LZTS1-
-
-
-
1LossND
LZTS2p.P238S
Missense
SNP
0.478
2-ND
MAB21L1-
-
-
-
3GainND
MAF1-
-
-
-
3GainND
MAFA-
-
-
-
3GainND
MAGEA3p.Y269H
Missense
SNP
1.000
NDNDND
MAGEB2p.K170E
Missense
SNP
1.000
NDNDND
MAGEB4p.G212D
Missense
SNP
1.000
NDNDND
MAGEB6P1p.S120L
Missense
SNP
1.000
NDNDND
MAGEL2p.P1108L
p.P13S
Missense
Missense
SNP
SNP
0.508
0.627
2-ND
MAGI1-
-
-
-
1LossND
MAK16-
-
-
-
1LossND
MAL2-
-
-
-
3GainND
MALRD1-
-
-
-
3GainND
MALT1-
-
-
-
1LossND
MAMDC2p.D318V
Missense
SNP
0.438
2-ND
MAML1p.E248K
Missense
SNP
0.470
2-ND
MANF-
-
-
-
1LossND
MAP2p.L1743F
Missense
SNP
0.461
2-ND
MAP2K7p.D405E
Missense
SNP
0.600
2-ND
MAP3K13p.G752E
Missense
SNP
0.465
2-ND
MAP3K14p.P722S
Missense
SNP
0.468
2-ND
MAP4-
-
-
-
1LossND
MAP4K2p.T401A
Missense
SNP
0.434
2-ND
MAP7D1p.G398Afs*34
Frame_Shift_Del
DEL
0.574
2-ND
MAPK15-
-
-
-
3GainND
MAPK4-
-
-
-
1LossND
MAPK8p.H141Y
Missense
SNP
0.432
2-ND
MAPKAPK3-
-
-
-
1LossND
MAPRE2-
-
-
-
1LossND
MAPRE3p.C182Lfs*16
Frame_Shift_Ins
INS
0.279
2-ND
MARCH1p.A9V
Missense
SNP
0.436
2-ND
MARCH11-
-
-
-
4GainND
MARCH6-
-
-
-
4GainND
MAST4p.P1642L
Missense
SNP
0.374
2-ND
MATN2p.E930K
Missense
SNP
0.362
3GainND
MBD1-
-
-
-
1LossND
MBD2-
-
-
-
1LossND
MBL2p.C155Y
Missense
SNP
0.572
2-ND
MBNL2-
-
-
-
3GainND
MBOAT4-
-
-
-
1LossND
MBP-
-
-
-
1LossND
MC4R-
-
-
-
1LossND
MC5Rp.Y180H
Missense
SNP
0.526
2-ND
MCAM-
-
-
-
1LossND
MCF2Lp.V133I
Missense
SNP
0.621
3GainND
MCM10-
-
-
-
3GainND
MCM3p.I3V
Missense
SNP
0.480
2-ND
MCM4-
-
-
-
3GainND
MCMDC2-
-
-
-
3GainND
MCPH1-
-
-
-
1LossND
MDFICp.G208S
Missense
SNP
0.447
2-ND
MDGA2p.E529K
Missense
SNP
0.460
2-ND
MDN1p.K1989Rfs*65
p.D4806N
Frame_Shift_Del
Missense
DEL
SNP
0.566
0.597
2-ND
ME1p.R8H
Missense
SNP
0.553
2-ND
ME2-
-
-
-
1LossND
MED10-
-
-
-
4GainND
MED15p.Q453Sfs*41
Frame_Shift_Del
DEL
0.433
2-ND
MED16p.D623N
Missense
SNP
1.000
2-ND
MED23p.R1167*
Nonsense
SNP
0.444
2-ND
MED30-
-
-
-
3GainND
MED4-
-
-
-
3GainND
MEDAGp.G69Afs*29
Frame_Shift_Del
DEL
0.604
3GainND
MEF2Cp.E71K
Missense
SNP
0.493
2-ND
MEGF10p.R71Q
Missense
SNP
0.467
2-ND
MEIG1-
-
-
-
3GainND
MEIS3p.P191S
p.S4F
Missense
Missense
SNP
SNP
0.444
0.389
2-ND
MELK-
-
-
-
1LossND
MEN1p.R521Gfs*43
Frame_Shift_Del
DEL
0.447
2-ND
MEP1B-
-
-
-
1LossND
METTL21C-
-
-
-
3GainND
METTL25p.X459_splice
Splice_Site
SNP
0.408
2-ND
METTL4p.S56del
In_Frame_Del
DEL
0.464
2-ND
METTL6-
-
-
-
1LossND
MEX3C-
-
-
-
1LossND
MEX3Dp.A374V
Missense
SNP
0.561
2-ND
MFHAS1-
-
-
-
1LossND
MFRP-
-
-
-
1LossND
MFSD3-
-
-
-
3GainND
MFSD4Bp.C202Vfs*4
p.A187V
Frame_Shift_Del
Missense
DEL
SNP
0.436
0.484
2-ND
MFSD6p.P25L
Missense
SNP
0.467
2-ND
MGAMp.R98Q
Missense
SNP
0.481
2-ND
MGAM2p.P1815S
Missense
SNP
0.414
2-ND
MIB1-
-
-
-
1LossND
MIB2p.A10Pfs*48
Frame_Shift_Del
DEL
0.550
2-ND
MICAL1p.T272A
Missense
SNP
0.474
2-ND
MICALL1p.E810K
Missense
SNP
0.491
2-ND
MICU2-
-
-
-
3GainND
MICU3-
-
-
-
1LossND
MIEF1p.P150S
Missense
SNP
0.489
2-ND
MINDY3-
-
-
-
3GainND
MINK1p.P246S
p.P250L
Missense
Missense
SNP
SNP
0.561
0.440
2-ND
MIPEP-
-
-
-
3GainND
MITF-
-
-
-
1LossND
MKI67p.M746I
Missense
SNP
0.520
2-ND
MKLN1p.Q309*
Nonsense
SNP
0.518
2-ND
MKRN2-
-
-
-
1LossND
MKRN2OS-
-
-
-
1LossND
MLANA-
-
-
-
1LossND
MLC1p.R22W
Missense
SNP
0.447
2-ND
MLH1p.X702_splice
Splice_Site
SNP
1.000
1LossND
MLH3p.E586Nfs*24
Frame_Shift_Del
DEL
0.575
2-ND
MLLT3-
-
-
-
1LossND
MLNR-
-
-
-
3GainND
MLXIPp.P577S
Missense
SNP
0.482
2-ND
MMEL1p.A568Gfs*53
Frame_Shift_Ins
INS
0.313
2-ND
MMP16-
-
-
-
3GainND
MMP20p.R273Q
Missense
SNP
0.509
2-ND
MMRN2p.A693T
Missense
SNP
0.438
2-ND
MOB3B-
-
-
-
1LossND
MOBP-
-
-
-
1LossND
MOCOS-
-
-
-
1LossND
MON1A-
-
-
-
1LossND
MON2p.F980Sfs*11
p.E1544Vfs*10
p.H652R
Frame_Shift_Del
Frame_Shift_Del
Missense
DEL
DEL
SNP
0.455
0.609
0.487
2-ND
MOS-
-
-
-
3GainND
MPDZ-
-
-
-
1LossND
MPHOSPH9p.S157Lfs*2
Frame_Shift_Del
DEL
0.460
2-ND
MPP7p.E134K
Missense
SNP
0.375
2-ND
MPRIPp.X426_splice
Splice_Site
SNP
0.490
2-ND
MPZL2-
-
-
-
1LossND
MPZL3-
-
-
-
1LossND
MRC1p.W728R
Missense
SNP
0.378
3GainND
MRI1p.H330Tfs*24
Frame_Shift_Del
DEL
0.462
2-ND
MRO-
-
-
-
1LossND
MROH1-
-
-
-
3GainND
MROH2B-
-
-
-
4GainND
MROH5-
-
-
-
3GainND
MROH6-
-
-
-
3GainND
MROH9p.L605V
Missense
SNP
0.544
2-ND
MRPL13-
-
-
-
3GainND
MRPL15-
-
-
-
3GainND
MRPL36-
-
-
-
4GainND
MRPL57-
-
-
-
3GainND
MRPS25-
-
-
-
1LossND
MRPS28-
-
-
-
3GainND
MRPS30p.L150P
Missense
SNP
0.249
4GainND
MRPS31p.H17Y
Missense
SNP
0.684
3GainND
MRVI1p.F788I
Missense
SNP
0.396
2-ND
MSANTD2-
-
-
-
1LossND
MSANTD4-
-
-
-
1LossND
MSC-
-
-
-
3GainND
MSH5p.E424K
Missense
SNP
0.500
2-ND
MSI1p.X34_splice
Splice_Site
SNP
0.493
2-ND
MSMP-
-
-
-
1LossND
MSNp.E178K
Missense
SNP
1.000
NDNDND
MSR1-
-
-
-
1LossND
MSRA-
-
-
-
1LossND
MST1-
-
-
-
1LossND
MST1R-
-
-
-
1LossND
MSX1p.K139R
Missense
SNP
0.583
2-ND
MTAP-
-
-
-
1LossND
MTBP-
-
-
-
3GainND
MTDH-
-
-
-
3GainND
MTERF3-
-
-
-
3GainND
MTFR1-
-
-
-
3GainND
MTHFD1p.D142N
Missense
SNP
0.452
2-ND
MTHFD1Lp.G650K
Missense
MNP
0.377
2-ND
MTHFRp.X344_splice
Splice_Site
SNP
0.384
2-ND
MTIF3-
-
-
-
3GainND
MTMR12-
-
-
-
4GainND
MTMR14-
-
-
-
1LossND
MTMR4p.L534F
Missense
SNP
0.495
2-ND
MTMR6-
-
-
-
3GainND
MTMR7-
-
-
-
1LossND
MTMR9-
-
-
-
1LossND
MTRF1-
-
-
-
3GainND
MTRR-
-
-
-
4GainND
MTSS1-
-
-
-
3GainND
MTUS1-
-
-
-
1LossND
MTUS2-
-
-
-
3GainND
MTX3p.I35Lfs*26
Frame_Shift_Del
DEL
0.447
2-ND
MUC16p.T11847Qfs*15
p.S7713Lfs*5
p.R10425K
p.T10109A
p.S5258F
Frame_Shift_Del
Frame_Shift_Del
Missense
Missense
Missense
DEL
DEL
SNP
SNP
SNP
0.473
0.419
0.478
0.564
0.493
2-ND
MUC22p.G961C
Missense
SNP
0.454
2-ND
MUC5ACp.S2245F
p.S4208N
Missense
Missense
SNP
SNP
0.444
0.388
2-ND
MUSTN1-
-
-
-
1LossND
MYBL1-
-
-
-
3GainND
MYC-
-
-
-
3GainND
MYCBP2p.L2080F
Missense
SNP
0.664
3GainND
MYD88-
-
-
-
1LossND
MYH11p.T1786M
p.P573L
Missense
Missense
SNP
SNP
0.465
0.390
2-ND
MYH14p.V1526E
Missense
SNP
0.552
2-ND
MYH15p.A30V
Missense
SNP
0.503
2-ND
MYH3p.X894_splice
Splice_Site
SNP
0.349
2-ND
MYH4p.X1328_splice
p.E779K
Splice_Site
Missense
SNP
SNP
0.476
0.506
2-ND
MYH6p.V649M
Missense
SNP
0.391
2-ND
MYH7p.G181E
Missense
SNP
0.481
2-ND
MYH7Bp.T526N
Missense
SNP
0.619
2-ND
MYH8p.Q805*
Nonsense
SNP
0.543
2-ND
MYL10p.S45P
Missense
SNP
0.560
2-ND
MYL3-
-
-
-
1LossND
MYLKp.S1345N
Missense
SNP
0.393
2-ND
MYO10-
-
-
-
4GainND
MYO15Ap.E2962K
Missense
SNP
0.542
2-ND
MYO16p.N405T
Missense
SNP
0.721
3GainND
MYO5B-
-
-
-
1LossND
MYO9Bp.G1292R
Missense
SNP
0.549
2-ND
MYOM1p.S715F
Missense
SNP
0.477
2-ND
MYOM2-
-
-
-
1LossND
MYOM3p.R513*
Nonsense
SNP
0.528
2-ND
MYORG-
-
-
-
1LossND
MYOZ3p.G14V
p.P167F
Missense
Missense
SNP
MNP
0.556
0.419
2-ND
MYPNp.I891*
Frame_Shift_Del
DEL
0.490
2-ND
MYRFp.S264Afs*8
p.K745Qfs*57
Frame_Shift_Del
Frame_Shift_Ins
DEL
INS
0.486
0.287
2-ND
MYRIP-
-
-
-
1LossND
MZT1-
-
-
-
3GainND
MZT2B-
-
-
-
1LossND
N4BP2L1-
-
-
-
3GainND
N4BP2L2-
-
-
-
3GainND
NAA16p.E63Kfs*38
Frame_Shift_Del
DEL
0.392
3GainND
NAA80-
-
-
-
1LossND
NAAAp.H290N
Missense
SNP
0.486
2-ND
NADK2-
-
-
-
4GainND
NAIP-
-
-
-
1LossND
NALCN-
-
-
-
3GainND
NANPp.Y39C
Missense
SNP
0.438
2-ND
NAPRT-
-
-
-
3GainND
NARS-
-
-
-
1LossND
NAT1-
-
-
-
1LossND
NAT2-
-
-
-
1LossND
NAV3p.R398C
p.P2240S
Missense
Missense
SNP
SNP
0.511
0.464
2-ND
NAXD-
-
-
-
3GainND
NBEAp.P2655S
Missense
SNP
0.658
3GainND
NBEAL2-
-
-
-
1LossND
NBN-
-
-
-
3GainND
NCALD-
-
-
-
3GainND
NCAM1p.V695I
Missense
SNP
0.986
1LossND
NCAM2p.G326K
Missense
MNP
0.483
2-ND
NCAPD2p.A1162T
Missense
SNP
0.500
2-ND
NCAPD3-
-
-
-
1LossND
NCKIPSD-
-
-
-
1LossND
NCOA2-
-
-
-
3GainND
NCOA3p.R683Q
p.M1407L
Missense
Missense
SNP
SNP
0.525
0.473
2-ND
NCOR1p.G1063D
Missense
SNP
0.568
2-ND
NCOR2p.R986Gfs*77
Frame_Shift_Del
DEL
0.115
2-ND
NDFIP2-
-
-
-
3GainND
NDRG1-
-
-
-
3GainND
NDUFAF3-
-
-
-
1LossND
NDUFAF6-
-
-
-
3GainND
NDUFB6-
-
-
-
1LossND
NDUFB9-
-
-
-
3GainND
NDUFS6-
-
-
-
4GainND
NEBp.R8004H
p.S7788*
p.D2218G
Missense
Nonsense
Missense
SNP
SNP
SNP
0.429
0.476
0.551
2-ND
NECAB1-
-
-
-
3GainND
NECTIN1-
-
-
-
1LossND
NEDD4L-
-
-
-
1LossND
NEFL-
-
-
-
1LossND
NEFM-
-
-
-
1LossND
NEIL2-
-
-
-
1LossND
NEK10-
-
-
-
1LossND
NEK3p.S447F
Missense
SNP
0.695
3GainND
NEK4-
-
-
-
1LossND
NEK5p.S702N
Missense
SNP
0.716
3GainND
NELL1p.Y472C
Missense
SNP
0.449
2-ND
NET1-
-
-
-
3GainND
NETO1-
-
-
-
1LossND
NEU2p.R204H
Missense
SNP
0.474
2-ND
NFATC1-
-
-
-
1LossND
NFATC2p.P296Lfs*7
Frame_Shift_Del
DEL
0.413
2-ND
NFATC3p.P404L
Missense
SNP
0.555
2-ND
NFIB-
-
-
-
1LossND
NFKBIBp.P344Qfs*19
Frame_Shift_Del
DEL
0.411
2-ND
NFKBIEp.G34E
Missense
SNP
0.583
2-ND
NFRKB-
-
-
-
1LossND
NFX1-
-
-
-
1LossND
NGLY1-
-
-
-
1LossND
NHLRC3-
-
-
-
3GainND
NHSL1p.L570*
p.S1251F
Frame_Shift_Del
Missense
DEL
SNP
0.525
0.413
2-ND
NICN1-
-
-
-
1LossND
NIM1K-
-
-
-
4GainND
NINp.G1159R
Missense
SNP
0.519
2-ND
NIPA1p.D66H
p.P91H
Missense
Missense
SNP
SNP
0.423
0.462
2-ND
NIPAL2-
-
-
-
3GainND
NIPBL-
-
-
-
4GainND
NISCH-
-
-
-
1LossND
NKAIN3-
-
-
-
3GainND
NKAPD1-
-
-
-
1LossND
NKD1p.H458dup
In_Frame_Ins
INS
0.292
2-ND
NKD2-
-
-
-
4GainND
NKIRAS1-
-
-
-
1LossND
NKTRp.S1333F
Missense
SNP
1.000
1LossND
NKX2-6-
-
-
-
1LossND
NKX3-1-
-
-
-
1LossND
NKX6-3-
-
-
-
1LossND
NLGN3p.A683T
Missense
SNP
1.000
NDNDND
NLRP10p.M510T
Missense
SNP
0.490
2-ND
NLRP11p.Y587C
Missense
SNP
0.508
2-ND
NLRP13p.Y20Lfs*55
p.T243A
Frame_Shift_Ins
Missense
INS
SNP
0.381
0.517
2-ND
NLRP4p.V453M
p.G539E
Missense
Missense
SNP
SNP
0.527
0.503
2-ND
NLRP9p.S218Pfs*16
Frame_Shift_Del
DEL
0.051
2-ND
NLRX1-
-
-
-
1LossND
NMD3p.T168Lfs*8
Frame_Shift_Del
DEL
0.108
2-ND
NME6-
-
-
-
1LossND
NMT2-
-
-
-
3GainND
NNMT-
-
-
-
1LossND
NNT-
-
-
-
4GainND
NOL4-
-
-
-
1LossND
NOL4Lp.G413N
Missense
MNP
0.381
2-ND
NOL6-
-
-
-
1LossND
NOS1p.G676Afs*64
p.T1349M
Frame_Shift_Del
Missense
DEL
SNP
0.356
0.494
2-ND
NOS3p.P42Q
Missense
SNP
0.593
2-ND
NOTCH1p.G270Vfs*7
Frame_Shift_Del
DEL
0.989
2-ND
NOTCH2p.S1419Afs*8
p.D1451N;p.W1450*
Frame_Shift_Del
Nonsense
DEL
MNP
0.386
0.538
2-ND
NOV-
-
-
-
3GainND
NPAP1p.N460T
p.P645S
Missense
Missense
SNP
SNP
0.498
0.486
2-ND
NPAT-
-
-
-
1LossND
NPBWR1-
-
-
-
3GainND
NPBWR2p.R238K
Missense
SNP
0.483
2-ND
NPC1-
-
-
-
1LossND
NPC2p.P86S
Missense
SNP
0.374
2-ND
NPEPL1p.V412A
Missense
SNP
0.525
2-ND
NPHP4p.P776S
p.V422I
Missense
Missense
SNP
SNP
0.470
0.455
2-ND
NPHS1p.R407W
Missense
SNP
0.488
2-ND
NPM2-
-
-
-
1LossND
NPR2-
-
-
-
1LossND
NPR3-
-
-
-
4GainND
NPRL2-
-
-
-
1LossND
NPTNp.X204_splice
Splice_Site
SNP
0.473
2-ND
NPTX1p.W319*
Nonsense
MNP
0.420
2-ND
NR1D2-
-
-
-
1LossND
NR2C2-
-
-
-
1LossND
NR2E1p.G72S
Missense
SNP
0.553
2-ND
NRASp.A91V
Missense
SNP
0.536
2-ND
NRBP2-
-
-
-
3GainND
NRG1-
-
-
-
1LossND
NRG3p.P553L
Missense
SNP
0.349
2-ND
NRGNp.P61Afs*23
Frame_Shift_Ins
INS
0.452
1LossND
NRIP1p.E729Rfs*5
Frame_Shift_Del
DEL
0.428
2-ND
NRLp.R207C
Missense
SNP
0.515
2-ND
NRXN2p.A270Pfs*57
Frame_Shift_Del
DEL
0.415
2-ND
NRXN3p.N872S
Missense
SNP
0.440
2-ND
NSD3-
-
-
-
1LossND
NSFp.L481F
Missense
SNP
0.247
2-ND
NSMAF-
-
-
-
3GainND
NSMCE2p.Y209F
Missense
SNP
0.643
3GainND
NSUN2-
-
-
-
4GainND
NSUN6-
-
-
-
3GainND
NSUN7p.R541W
Missense
SNP
0.438
2-ND
NT5DC2-
-
-
-
1LossND
NT5DC3p.P51Rfs*3
Frame_Shift_Del
DEL
0.576
2-ND
NTM-
-
-
-
1LossND
NTN5p.H124Y
Missense
SNP
0.303
2-ND
NUDCD1p.E451K
Missense
SNP
0.645
3GainND
NUDT15-
-
-
-
3GainND
NUDT18-
-
-
-
1LossND
NUDT2-
-
-
-
1LossND
NUDT5-
-
-
-
3GainND
NUFIP1-
-
-
-
3GainND
NUGGC-
-
-
-
1LossND
NUP155-
-
-
-
4GainND
NUP210-
-
-
-
1LossND
NUP214p.A53S
Missense
SNP
1.000
2-ND
NUP58p.S170F
Missense
SNP
0.686
3GainND
NXPE1-
-
-
-
1LossND
NXPE2-
-
-
-
1LossND
NXPE4-
-
-
-
1LossND
OAF-
-
-
-
1LossND
OBSL1p.P804S
Missense
SNP
0.519
2-ND
OC90-
-
-
-
3GainND
OCA2p.K614Sfs*14
Frame_Shift_Del
DEL
0.447
2-ND
ODF1-
-
-
-
3GainND
OGDHp.P430S
Missense
SNP
0.462
2-ND
OGDHLp.P839L
Missense
SNP
0.531
2-ND
OGG1-
-
-
-
1LossND
OLAH-
-
-
-
3GainND
OLFM2p.R125K
Missense
SNP
0.443
2-ND
OLFM4-
-
-
-
3GainND
OLFML2Ap.A3D
Missense
SNP
0.538
2-ND
ONECUT2-
-
-
-
1LossND
OPCML-
-
-
-
1LossND
OPLAH-
-
-
-
3GainND
OPRK1-
-
-
-
3GainND
OPRM1p.V2I
p.C397F
Missense
Missense
SNP
SNP
0.575
0.583
2-ND
OPTN-
-
-
-
3GainND
OR10A7p.F107del
In_Frame_Del
DEL
0.396
2-ND
OR10D3-
-
-
-
1LossND
OR10G3p.M60Hfs*12
Frame_Shift_Ins
INS
0.273
2-ND
OR10G4-
-
-
-
1LossND
OR10G7-
-
-
-
1LossND
OR10G8-
-
-
-
1LossND
OR10G9-
-
-
-
1LossND
OR10K1p.R122C
Missense
SNP
0.444
2-ND
OR10S1-
-
-
-
1LossND
OR13D1p.G138D
Missense
SNP
1.000
2-ND
OR13J1-
-
-
-
1LossND
OR14K1p.I112N
Missense
SNP
0.491
2-ND
OR1L1p.G41E
Missense
SNP
1.000
2-ND
OR1L3p.E196K
Missense
SNP
1.000
2-ND
OR2A2p.A299T
Missense
SNP
0.454
2-ND
OR2B11p.S71F
Missense
SNP
0.429
2-ND
OR2G3p.T161A
Missense
SNP
0.542
2-ND
OR2G6p.G16R
Missense
SNP
0.500
2-ND
OR2M3p.S10F
p.S165F
Missense
Missense
SNP
SNP
0.513
0.379
2-ND
OR2M4p.E173K
Missense
SNP
0.546
2-ND
OR2S2-
-
-
-
1LossND
OR2T1p.P211S
Missense
SNP
0.448
2-ND
OR2T10p.L114F
Missense
SNP
0.435
2-ND
OR2T27p.S7F
Missense
SNP
0.136
2-ND
OR2V2p.G305R
Missense
SNP
0.510
2-ND
OR3A2p.A161V
Missense
SNP
0.316
2-ND
OR4D5-
-
-
-
1LossND
OR4F6p.R122Q
Missense
SNP
0.503
2-ND
OR4N5p.G204S
Missense
SNP
0.613
2-ND
OR51B5p.G91R
Missense
SNP
0.456
2-ND
OR5AR1p.V154L
Missense
SNP
0.591
2-ND
OR5AS1p.G253E
Missense
SNP
0.411
2-ND
OR5B12p.G70D
Missense
SNP
0.504
2-ND
OR5H2p.G247R
Missense
SNP
0.528
2-ND
OR5I1p.S93F
Missense
SNP
0.454
2-ND
OR5K1p.S156F
Missense
SNP
0.526
2-ND
OR5P3p.G151Vfs*4
Frame_Shift_Del
DEL
0.484
2-ND
OR6J1p.G2S
Missense
SNP
0.475
2-ND
OR6M1-
-
-
-
1LossND
OR6P1p.A33Cfs*59
Frame_Shift_Ins
INS
0.293
2-ND
OR6T1-
-
-
-
1LossND
OR6X1-
-
-
-
1LossND
OR8A1-
-
-
-
1LossND
OR8B12-
-
-
-
1LossND
OR8B2-
-
-
-
1LossND
OR8B3-
-
-
-
1LossND
OR8B4-
-
-
-
1LossND
OR8B8-
-
-
-
1LossND
OR8D1-
-
-
-
1LossND
OR8D2-
-
-
-
1LossND
OR8D4-
-
-
-
1LossND
OR8G1-
-
-
-
1LossND
OR8G5-
-
-
-
1LossND
OSBPL10-
-
-
-
1LossND
OSBPL1A-
-
-
-
1LossND
OSBPL6p.P587S
Missense
SNP
0.566
2-ND
OSGIN2-
-
-
-
3GainND
OSMR-
-
-
-
4GainND
OSR2-
-
-
-
3GainND
OTOGp.S300F
Missense
SNP
0.570
2-ND
OTUD6B-
-
-
-
3GainND
OTUD7Bp.D154Efs*18
Frame_Shift_Ins
INS
0.319
2-ND
OTULIN-
-
-
-
4GainND
OTULINL-
-
-
-
4GainND
OVOS2p.I69T
Missense
SNP
0.582
NDNDND
OXCT1-
-
-
-
4GainND
OXER1p.S78Pfs*64
p.R393H
Frame_Shift_Del
Missense
DEL
SNP
0.627
0.482
2-ND
OXGR1-
-
-
-
3GainND
OXNAD1-
-
-
-
1LossND
OXR1-
-
-
-
3GainND
OXSM-
-
-
-
1LossND
OXSR1-
-
-
-
1LossND
OXTR-
-
-
-
1LossND
P2RY1p.W117*
Nonsense
SNP
0.430
2-ND
P4HA2p.E259Kfs*10
Frame_Shift_Del
DEL
0.484
2-ND
P4HTM-
-
-
-
1LossND
PABPC1-
-
-
-
3GainND
PABPC3-
-
-
-
3GainND
PADI4p.K522Nfs*5
Frame_Shift_Del
DEL
0.480
2-ND
PAFAH1B2-
-
-
-
1LossND
PAG1p.G19R
Missense
SNP
0.658
3GainND
PAIP1-
-
-
-
4GainND
PAK1p.P469S
Missense
SNP
0.424
2-ND
PAK5p.Q37*
Nonsense
SNP
0.422
2-ND
PALLDp.A123V
Missense
SNP
0.395
2-ND
PAN3-
-
-
-
3GainND
PANX3-
-
-
-
1LossND
PAPPA2p.V1725I
Missense
SNP
0.504
2-ND
PARD6G-
-
-
-
1LossND
PARP10-
-
-
-
3GainND
PARP3-
-
-
-
1LossND
PARP4-
-
-
-
3GainND
PARPBPp.S176L
Missense
SNP
0.484
2-ND
PARVGp.R307Qfs*61
Frame_Shift_Ins
INS
0.291
2-ND
PATE1-
-
-
-
1LossND
PATE2-
-
-
-
1LossND
PATE3-
-
-
-
1LossND
PATE4-
-
-
-
1LossND
PAX1p.G6R
Missense
SNP
0.404
2-ND
PAX5-
-
-
-
1LossND
PAX9p.D316G
Missense
SNP
0.523
2-ND
PBK-
-
-
-
1LossND
PBRM1-
-
-
-
1LossND
PCBD2p.D116Mfs*2
Frame_Shift_Del
DEL
0.489
2-ND
PCBP4-
-
-
-
1LossND
PCCA-
-
-
-
3GainND
PCDH15p.P1534L
p.G1354E
p.I211N
Missense
Missense
Missense
SNP
SNP
SNP
0.248
0.667
0.403
3GainND
PCDH17p.N765Kfs*2
p.S908F
Frame_Shift_Ins
Missense
INS
SNP
0.255
0.274
3GainND
PCDH20-
-
-
-
3GainND
PCDH8-
-
-
-
3GainND
PCDH9-
-
-
-
3GainND
PCDHA1p.C705G
Missense
SNP
0.538
2-ND
PCDHA12p.L700I
Missense
SNP
0.479
2-ND
PCDHA7p.P774S
Missense
SNP
0.508
2-ND
PCDHA8p.R635H
p.S668L
Missense
Missense
SNP
SNP
0.459
0.371
2-ND
PCDHB13p.L140S
Missense
SNP
0.385
2-ND
PCDHB14p.D128N
Missense
SNP
0.495
2-ND
PCDHB2p.G327R
Missense
SNP
0.472
2-ND
PCDHB4p.S517L
Missense
SNP
0.343
2-ND
PCDHGA1p.V643M
Missense
SNP
0.561
2-ND
PCDHGA12p.R80H
Missense
SNP
0.520
2-ND
PCDHGA4p.G409E
p.E444K
Missense
Missense
SNP
SNP
0.495
0.527
2-ND
PCDHGA5p.I288Ffs*33
Frame_Shift_Del
DEL
0.507
2-ND
PCDHGA6p.A206V
p.L621P
Missense
Missense
SNP
SNP
0.528
0.345
2-ND
PCDHGA8p.G275R
Missense
SNP
0.420
2-ND
PCDHGB6p.V578A
Missense
SNP
0.524
2-ND
PCED1Bp.S129F
p.N145S
Missense
Missense
SNP
SNP
0.471
0.513
2-ND
PCID2-
-
-
-
3GainND
PCLOp.K5063Rfs*2
p.R5076Q
p.S4957N
p.G3427R;p.M3426I
p.N2707D
p.E811K
Frame_Shift_Del
Missense
Missense
Missense
Missense
Missense
DEL
SNP
SNP
MNP
SNP
SNP
0.493
0.402
0.407
0.503
0.467
0.506
2-ND
PCM1-
-
-
-
1LossND
PCMTD1p.R253H
Missense
SNP
0.368
3GainND
PCSK7-
-
-
-
1LossND
PDCD1LG2-
-
-
-
1LossND
PDCD6-
-
-
-
3GainND
PDCD6IP-
-
-
-
1LossND
PDE10Ap.S677F
Missense
SNP
0.456
2-ND
PDE12-
-
-
-
1LossND
PDE4Cp.T225I
Missense
SNP
0.553
2-ND
PDE7Ap.R48H
Missense
SNP
0.301
3GainND
PDGFRL-
-
-
-
1LossND
PDHB-
-
-
-
1LossND
PDLIM2-
-
-
-
1LossND
PDLIM3p.P100S
Missense
SNP
0.390
2-ND
PDLIM5p.V233L
Missense
SNP
0.410
2-ND
PDP1p.Y224*
Frame_Shift_Del
DEL
0.248
3GainND
PDPRp.L268F
Missense
SNP
0.295
2-ND
PDS5B-
-
-
-
3GainND
PDX1-
-
-
-
3GainND
PDZD2p.C1191F
Missense
SNP
0.788
4GainND
PDZD3-
-
-
-
1LossND
PDZRN3-
-
-
-
1LossND
PEBP4-
-
-
-
1LossND
PEG3p.Q1232E
p.K497T
Missense
Missense
SNP
SNP
0.524
0.502
2-ND
PENK-
-
-
-
3GainND
PES1p.P125S
Missense
SNP
0.453
2-ND
PEX11Gp.P241S
Missense
SNP
0.391
2-ND
PEX2-
-
-
-
3GainND
PFKFB2p.G315E
Missense
SNP
0.586
2-ND
PFKFB3-
-
-
-
3GainND
PFKFB4-
-
-
-
1LossND
PFKP-
-
-
-
3GainND
PHACTR3p.E86K
Missense
SNP
0.422
2-ND
PHEXp.G575E
Missense
SNP
1.000
NDNDND
PHF11-
-
-
-
3GainND
PHF14p.P812L
Missense
SNP
0.513
2-ND
PHF19p.S126L
Missense
SNP
1.000
2-ND
PHF20L1p.I826*
Frame_Shift_Del
DEL
0.639
3GainND
PHF24-
-
-
-
1LossND
PHF7-
-
-
-
1LossND
PHGR1p.H37Tfs*71
Frame_Shift_Del
DEL
0.465
2-ND
PHLDB1-
-
-
-
1LossND
PHLPP1-
-
-
-
1LossND
PHYH-
-
-
-
3GainND
PHYHIP-
-
-
-
1LossND
PI15-
-
-
-
3GainND
PIANPp.R49K
Missense
SNP
0.444
2-ND
PIAS2-
-
-
-
1LossND
PIBF1-
-
-
-
3GainND
PIEZO2p.Q1534Afs*8
p.S2468R
Frame_Shift_Ins
Missense
INS
SNP
0.254
0.529
2-ND
PIGN-
-
-
-
1LossND
PIGO-
-
-
-
1LossND
PIH1D2-
-
-
-
1LossND
PIK3C3-
-
-
-
1LossND
PIK3R3p.E254K
Missense
SNP
0.471
2-ND
PIK3R4p.P420S
Missense
SNP
0.499
2-ND
PINX1-
-
-
-
1LossND
PIP4P2-
-
-
-
3GainND
PIP5K1Ap.D189E
Missense
SNP
0.535
2-ND
PITPNM1p.W803*
Nonsense
SNP
0.441
2-ND
PITPNM2p.M203I
Missense
SNP
0.474
2-ND
PITRM1-
-
-
-
3GainND
PIWIL2-
-
-
-
1LossND
PKHD1L1p.K2189Nfs*27
Frame_Shift_Del
DEL
0.655
3GainND
PKIA-
-
-
-
3GainND
PKNOX2-
-
-
-
1LossND
PKP2p.E675K
p.R204C
Missense
Missense
SNP
SNP
0.425
0.557
2-ND
PLA2G12A-
-
-
-
3GainND
PLAA-
-
-
-
1LossND
PLAG1-
-
-
-
3GainND
PLAGL2p.W11Gfs*15
Frame_Shift_Del
DEL
0.419
2-ND
PLAT-
-
-
-
1LossND
PLCD1-
-
-
-
1LossND
PLCH1p.L440I
Missense
SNP
0.563
2-ND
PLCL2-
-
-
-
1LossND
PLCXD3-
-
-
-
4GainND
PLEC-
-
-
-
3GainND
PLEKHA2-
-
-
-
1LossND
PLEKHF2-
-
-
-
3GainND
PLEKHG1p.G161E
p.A802T
Missense
Missense
SNP
SNP
0.508
0.483
2-ND
PLEKHG2p.Q1322Sfs*37
Frame_Shift_Del
DEL
0.416
2-ND
PLEKHG4B-
-
-
-
3GainND
PLEKHM3p.Q414*
Nonsense
SNP
0.471
2-ND
PLET1-
-
-
-
1LossND
PLGRKT-
-
-
-
1LossND
PLIN2-
-
-
-
1LossND
PLIN4p.A149V
Missense
SNP
0.531
2-ND
PLK3p.A453T
Missense
SNP
0.546
2-ND
PLPBP-
-
-
-
1LossND
PLPP5-
-
-
-
1LossND
PLPP6-
-
-
-
1LossND
PLPP7p.G97E
Missense
SNP
1.000
2-ND
PLVAPp.S18F
Missense
SNP
0.460
2-ND
PLXNA4p.V605I
p.D351N
Missense
Missense
SNP
SNP
0.447
0.516
2-ND
PLXNB1-
-
-
-
1LossND
PLXNB2p.T1532M
Missense
SNP
0.571
2-ND
PMAIP1-
-
-
-
1LossND
PMLp.A602T
Missense
SNP
0.525
2-ND
PMP2-
-
-
-
3GainND
PNLIPp.K86I
Missense
MNP
0.363
2-ND
PNMA2-
-
-
-
1LossND
PNOC-
-
-
-
1LossND
POC1A-
-
-
-
1LossND
POGLUT1p.A339V
Missense
SNP
0.484
2-ND
POLB-
-
-
-
1LossND
POLD1p.R667W
Missense
SNP
0.587
2-ND
POLI-
-
-
-
1LossND
POLNp.K132R
Missense
SNP
0.503
2-ND
POLR1Bp.P569S
Missense
SNP
0.468
2-ND
POLR1D-
-
-
-
3GainND
POLR1E-
-
-
-
1LossND
POLR2J-
-
-
-
1LossND
POLR2J2-
-
-
-
1LossND
POLR2J3-
-
-
-
1LossND
POLR2K-
-
-
-
3GainND
POLR3D-
-
-
-
1LossND
POM121L12p.P46S
Missense
SNP
0.514
2-ND
POM121L2p.P60L
Missense
MNP
0.471
2-ND
POMGNT2-
-
-
-
1LossND
POMK-
-
-
-
1LossND
POMP-
-
-
-
3GainND
POP1-
-
-
-
3GainND
POSTN-
-
-
-
3GainND
POTEF-
-
-
-
1LossND
POU2AF1-
-
-
-
1LossND
POU2F3-
-
-
-
1LossND
POU3F4p.G149R
Missense
SNP
1.000
NDNDND
POU4F1-
-
-
-
3GainND
POU5F1B-
-
-
-
3GainND
PP2D1-
-
-
-
1LossND
PPARG-
-
-
-
1LossND
PPARGC1Ap.G290E
Missense
SNP
0.471
2-ND
PPARGC1Bp.L361Q
Missense
SNP
0.493
2-ND
PPDPFL-
-
-
-
3GainND
PPFIA3p.G595K
Missense
MNP
0.590
2-ND
PPFIBP1p.P572L
Missense
SNP
0.517
2-ND
PPIL6p.K107R
Missense
SNP
0.552
2-ND
PPM1Kp.T327I
Missense
SNP
0.486
2-ND
PPM1M-
-
-
-
1LossND
PPP1R13Bp.G111*
Nonsense
SNP
0.455
2-ND
PPP1R16A-
-
-
-
3GainND
PPP1R2P3p.M78I
Missense
SNP
0.482
NDNDND
PPP1R3B-
-
-
-
1LossND
PPP1R42-
-
-
-
3GainND
PPP2CB-
-
-
-
1LossND
PPP2R1B-
-
-
-
1LossND
PPP2R2A-
-
-
-
1LossND
PPP2R2Bp.W412*
Nonsense
SNP
0.508
2-ND
PPP3CC-
-
-
-
1LossND
PPP4R2-
-
-
-
1LossND
PPP4R3Ap.R156H
Missense
SNP
0.470
2-ND
PPT1p.M57Wfs*14
Frame_Shift_Del
DEL
0.549
2-ND
PQLC1-
-
-
-
1LossND
PRAG1-
-
-
-
1LossND
PRB2p.P123Hfs*308
Frame_Shift_Del
DEL
0.339
2-ND
PRDM10-
-
-
-
1LossND
PRDM14-
-
-
-
3GainND
PRDM8p.L139W
Missense
SNP
0.567
2-ND
PRDM9-
-
-
-
4GainND
PREX2p.P1555S
Missense
SNP
0.279
3GainND
PRH1p.R46H
Missense
SNP
0.060
2-ND
PRH2p.R46H
Missense
SNP
0.311
2-ND
PRICKLE2-
-
-
-
1LossND
PRKAA1-
-
-
-
4GainND
PRKAA2-
-
-
-
3GainND
PRKACGp.G32Efs*27
Frame_Shift_Del
DEL
0.513
2-ND
PRKAR2A-
-
-
-
1LossND
PRKCD-
-
-
-
1LossND
PRKCQp.E137D
Missense
SNP
0.271
3GainND
PRKCSHp.E503K
Missense
SNP
0.503
2-ND
PRKCZp.G130N
Missense
MNP
0.712
2-ND
PRKDC-
-
-
-
3GainND
PRKG2p.G646S
p.H106Y
Missense
Missense
SNP
SNP
0.452
0.469
2-ND
PRLRp.P83L
Missense
SNP
0.281
4GainND
PRMT8p.S31Pfs*35
Frame_Shift_Del
DEL
0.641
2-ND
PRMT9p.E309D
Missense
SNP
0.516
2-ND
PROK2-
-
-
-
1LossND
PROKR2p.E308K
Missense
SNP
0.469
2-ND
PROSER1p.A895S
Missense
SNP
0.431
3GainND
PROSER2-
-
-
-
3GainND
PROX2p.G202K
Missense
MNP
0.483
2-ND
PROZ-
-
-
-
3GainND
PRPF18p.I297F
Missense
SNP
0.359
3GainND
PRPF6p.R135C
Missense
SNP
0.478
2-ND
PRR13p.E144K
Missense
SNP
0.414
2-ND
PRR23D1-
-
-
-
1LossND
PRR23D2-
-
-
-
1LossND
PRR26-
-
-
-
3GainND
PRR32p.P264S
Missense
SNP
1.000
NDNDND
PRRC2Bp.V1093Sfs*77
Frame_Shift_Del
DEL
0.913
2-ND
PRRT3-
-
-
-
1LossND
PRSS12p.R171*
Nonsense
SNP
0.527
2-ND
PRSS3-
-
-
-
1LossND
PRSS42-
-
-
-
1LossND
PRSS45-
-
-
-
1LossND
PRSS50-
-
-
-
1LossND
PRSS55-
-
-
-
1LossND
PRUNE2p.R583K
Missense
SNP
0.498
2-ND
PSCA-
-
-
-
3GainND
PSDp.S75Hfs*37
p.R112K
Frame_Shift_Del
Missense
DEL
SNP
0.439
0.554
2-ND
PSD3-
-
-
-
1LossND
PSD4p.G197R
Missense
SNP
0.374
2-ND
PSG8p.W181*
Nonsense
SNP
0.457
2-ND
PSIP1-
-
-
-
1LossND
PSKH2-
-
-
-
3GainND
PSMA8-
-
-
-
1LossND
PSMD6-
-
-
-
1LossND
PSTPIP2-
-
-
-
1LossND
PTDSS1-
-
-
-
3GainND
PTER-
-
-
-
3GainND
PTGER2p.E294K
Missense
SNP
0.513
2-ND
PTGER4-
-
-
-
4GainND
PTGES3L-AARSD1p.A49V
Missense
SNP
0.450
2-ND
PTH1R-
-
-
-
1LossND
PTK2-
-
-
-
3GainND
PTK2B-
-
-
-
1LossND
PTP4A3-
-
-
-
3GainND
PTPN21p.L1050Rfs*14
Frame_Shift_Del
DEL
0.259
2-ND
PTPN23-
-
-
-
1LossND
PTPRD-
-
-
-
1LossND
PTPRG-
-
-
-
1LossND
PTPRNp.G31Afs*75
Frame_Shift_Del
DEL
0.636
2-ND
PTPRQp.Q1651*
Nonsense
SNP
0.711
2-ND
PTPRUp.L557M
Missense
SNP
0.503
2-ND
PTPRZ1p.S2081F
Missense
SNP
0.329
2-ND
PTSp.M71I
Missense
SNP
1.000
1LossND
PUF60-
-
-
-
3GainND
PUM3-
-
-
-
1LossND
PURGp.R297H
Missense
SNP
0.984
1LossND
PUS3-
-
-
-
1LossND
PXDNp.H1423Y
Missense
SNP
0.431
2-ND
PXDNL-
-
-
-
3GainND
PXK-
-
-
-
1LossND
PYCR3-
-
-
-
3GainND
PYHIN1p.R211*
Nonsense
SNP
0.433
2-ND
QARS-
-
-
-
1LossND
QKIp.K134Rfs*14
Frame_Shift_Del
DEL
0.525
2-ND
QPCTp.V29Sfs*20
Frame_Shift_Del
DEL
0.465
2-ND
QRICH1-
-
-
-
1LossND
R3HCC1p.Q221P
Missense
SNP
1.000
1LossND
RAB11FIP1p.A1130Pfs*50
Frame_Shift_Del
DEL
0.879
1LossND
RAB20-
-
-
-
3GainND
RAB27B-
-
-
-
1LossND
RAB2A-
-
-
-
3GainND
RAB39A-
-
-
-
1LossND
RAB40Bp.T244P
Missense
SNP
0.415
2-ND
RAB5A-
-
-
-
1LossND
RABGGTBp.X1_splice
Splice_Site
DEL
0.518
2-ND
RABL6p.K614Sfs*9
p.P294S
Frame_Shift_Del
Missense
DEL
SNP
0.509
1.000
2-ND
RAD1-
-
-
-
4GainND
RAD18-
-
-
-
1LossND
RAD21-
-
-
-
3GainND
RAD54B-
-
-
-
3GainND
RAD54L2p.F1309Sfs*34
Frame_Shift_Del
DEL
0.955
1LossND
RADILp.G179E
Missense
SNP
0.464
2-ND
RAF1p.R391G
Missense
SNP
1.000
1LossND
RAI14-
-
-
-
4GainND
RALYL-
-
-
-
3GainND
RANBP17p.P323S
Missense
SNP
0.429
2-ND
RANBP3L-
-
-
-
4GainND
RANBP6-
-
-
-
1LossND
RANGRFp.E156K
Missense
SNP
0.451
2-ND
RAP2A-
-
-
-
3GainND
RAPGEF1p.V540D
p.P236L
Missense
Missense
SNP
SNP
0.500
1.000
2-ND
RAPGEF3p.D161Y
Missense
SNP
0.480
2-ND
RARB-
-
-
-
1LossND
RASA3-
-
-
-
3GainND
RASA4-
-
-
-
1LossND
RASA4B-
-
-
-
1LossND
RASAL1p.A668V
Missense
SNP
0.525
2-ND
RASGEF1Cp.T21Pfs*26
Frame_Shift_Del
DEL
0.453
2-ND
RASGRF1p.E553K
Missense
SNP
0.549
2-ND
RASGRF2p.A34T
p.L968F
Missense
Missense
SNP
SNP
0.534
0.463
2-ND
RASL11A-
-
-
-
3GainND
RASSF1-
-
-
-
1LossND
RASSF2p.Q6*
Nonsense
SNP
0.440
2-ND
RAVER1p.R73C
Missense
SNP
0.484
2-ND
RAX-
-
-
-
1LossND
RB1-
-
-
-
3GainND
RB1CC1-
-
-
-
3GainND
RBBP8-
-
-
-
1LossND
RBFA-
-
-
-
1LossND
RBM12B-
-
-
-
3GainND
RBM15B-
-
-
-
1LossND
RBM17-
-
-
-
3GainND
RBM19p.A918V
Missense
SNP
0.598
2-ND
RBM25p.V842A
Missense
SNP
0.568
2-ND
RBM26-
-
-
-
3GainND
RBM5-
-
-
-
1LossND
RBM6-
-
-
-
1LossND
RBM7-
-
-
-
1LossND
RBMS3-
-
-
-
1LossND
RBMXL3p.G626R
Missense
SNP
0.993
NDNDND
RBPMS-
-
-
-
1LossND
RBSN-
-
-
-
1LossND
RCBTB1-
-
-
-
3GainND
RCBTB2-
-
-
-
3GainND
RCC1Lp.S186F
Missense
SNP
0.618
2-ND
RCL1-
-
-
-
1LossND
RDH10-
-
-
-
3GainND
RDX-
-
-
-
1LossND
RECK-
-
-
-
1LossND
RECQLp.K80*
Nonsense
SNP
0.463
2-ND
RECQL4p.A204G
Missense
SNP
0.335
3GainND
REEP4-
-
-
-
1LossND
REG1Bp.S108F
Missense
SNP
0.519
2-ND
REG4p.A16S
Missense
SNP
0.574
2-ND
RELCH-
-
-
-
1LossND
RELNp.W1654*
Nonsense
SNP
0.449
2-ND
REPIN1p.S430Pfs*?
Frame_Shift_Del
DEL
0.581
2-ND
RETREG1-
-
-
-
4GainND
REXO1p.P476L
Missense
SNP
0.506
2-ND
REXO2-
-
-
-
1LossND
RFC1p.E1097K
Missense
SNP
0.500
2-ND
RFC3-
-
-
-
3GainND
RFT1-
-
-
-
1LossND
RFTN1-
-
-
-
1LossND
RFX3p.I376V
p.Q303*
Missense
Nonsense
SNP
SNP
1.000
0.995
1LossND
RFX6p.S381F
Missense
SNP
0.570
2-ND
RFXAP-
-
-
-
3GainND
RGCC-
-
-
-
3GainND
RGP1-
-
-
-
1LossND
RGS12p.A581Qfs*15
p.Q1292Rfs*49
p.K1176E
Frame_Shift_Del
Frame_Shift_Del
Missense
DEL
DEL
SNP
0.394
0.405
0.496
2-ND
RGS16p.E138K
Missense
SNP
0.546
2-ND
RGS20-
-
-
-
3GainND
RGS22-
-
-
-
3GainND
RGS7p.R416Q
p.T209A
Missense
Missense
SNP
SNP
0.441
0.543
2-ND
RGSL1p.E309K
p.L948F
Missense
Missense
SNP
SNP
0.451
0.490
2-ND
RHBDL3p.L78F
Missense
SNP
0.473
2-ND
RHOA-
-
-
-
1LossND
RHOBTB1p.I56M
Missense
SNP
0.398
2-ND
RHOBTB2-
-
-
-
1LossND
RHOHp.K17Efs*47
Frame_Shift_Ins
INS
0.306
2-ND
RHPN1-
-
-
-
3GainND
RIC1-
-
-
-
1LossND
RICTOR-
-
-
-
4GainND
RIDA-
-
-
-
3GainND
RIMS1p.E844K
Missense
SNP
0.606
2-ND
RIMS2-
-
-
-
3GainND
RIN3p.T35I
Missense
SNP
0.580
2-ND
RIOK3-
-
-
-
1LossND
RIPK2-
-
-
-
3GainND
RIT2-
-
-
-
1LossND
RLN1-
-
-
-
1LossND
RLN2-
-
-
-
1LossND
RMC1-
-
-
-
1LossND
RMDN1-
-
-
-
3GainND
RNASEH1p.S284L
Missense
SNP
0.550
2-ND
RNASEH2B-
-
-
-
3GainND
RNF113Ap.Y244C
Missense
SNP
1.000
NDNDND
RNF113B-
-
-
-
3GainND
RNF122-
-
-
-
1LossND
RNF123-
-
-
-
1LossND
RNF125-
-
-
-
1LossND
RNF138-
-
-
-
1LossND
RNF139-
-
-
-
3GainND
RNF152-
-
-
-
1LossND
RNF165-
-
-
-
1LossND
RNF17-
-
-
-
3GainND
RNF170-
-
-
-
1LossND
RNF19A-
-
-
-
3GainND
RNF214-
-
-
-
1LossND
RNF219-
-
-
-
3GainND
RNF26-
-
-
-
1LossND
RNF38-
-
-
-
1LossND
RNF6-
-
-
-
3GainND
RNGTTp.R330C
Missense
SNP
0.515
2-ND
ROBO1-
-
-
-
1LossND
ROBO2-
-
-
-
1LossND
ROBO3-
-
-
-
1LossND
ROBO4p.V346Cfs*9
Frame_Shift_Del
DEL
0.623
1LossND
ROCK1p.Y141Mfs*12
Frame_Shift_Del
DEL
0.468
2-ND
ROPN1L-
-
-
-
4GainND
RP1p.L76Sfs*5
p.D611N
Frame_Shift_Del
Missense
DEL
SNP
0.619
0.641
3GainND
RP11-766F14.2p.R1333*
Nonsense
SNP
0.487
NDNDND
RP11-80H18.3p.M34V
Missense
SNP
1.000
NDNDND
RP1L1-
-
-
-
1LossND
RPAP3p.E122K
Missense
SNP
0.432
2-ND
RPL14-
-
-
-
1LossND
RPL15-
-
-
-
1LossND
RPL17-
-
-
-
1LossND
RPL17-C18orf32-
-
-
-
1LossND
RPL21-
-
-
-
3GainND
RPL30-
-
-
-
3GainND
RPL32-
-
-
-
1LossND
RPL37-
-
-
-
4GainND
RPL7-
-
-
-
3GainND
RPL8-
-
-
-
3GainND
RPP14-
-
-
-
1LossND
RPP25L-
-
-
-
1LossND
RPP38-
-
-
-
3GainND
RPRD1A-
-
-
-
1LossND
RPS2p.V128A
Missense
SNP
0.443
2-ND
RPS20-
-
-
-
3GainND
RPS25-
-
-
-
1LossND
RPS6-
-
-
-
1LossND
RPS6KA6p.S19G
Missense
SNP
1.000
NDNDND
RPSA-
-
-
-
1LossND
RPUSD3-
-
-
-
1LossND
RPUSD4-
-
-
-
1LossND
RRAGA-
-
-
-
1LossND
RREB1p.E1502Rfs*81
Frame_Shift_Del
DEL
0.486
2-ND
RRHp.G109R
Missense
SNP
0.347
3GainND
RRM1p.L645F
Missense
SNP
0.470
2-ND
RRM2B-
-
-
-
3GainND
RRP12p.P523S
Missense
SNP
0.419
2-ND
RRP9-
-
-
-
1LossND
RRS1-
-
-
-
3GainND
RSL1D1p.K483Nfs*36
Frame_Shift_Del
DEL
0.184
2-ND
RSPO1p.E231K
Missense
SNP
0.419
2-ND
RSPO2-
-
-
-
3GainND
RSU1-
-
-
-
3GainND
RTN1p.M10I
Missense
SNP
0.491
2-ND
RTN2p.R79M
Missense
SNP
0.409
2-ND
RTP3-
-
-
-
1LossND
RTTN-
-
-
-
1LossND
RUBCNL-
-
-
-
3GainND
RUNX1T1-
-
-
-
3GainND
RUSC2-
-
-
-
1LossND
RXFP2-
-
-
-
3GainND
RXFP3-
-
-
-
4GainND
RYBP-
-
-
-
1LossND
RYR1p.G700S
Missense
SNP
0.495
2-ND
RYR3p.G255E
Missense
SNP
0.368
2-ND
SACM1L-
-
-
-
1LossND
SACSp.I1110Lfs*16
Frame_Shift_Del
DEL
0.314
3GainND
SALL3p.R1148W
p.P1239S
Missense
Missense
SNP
SNP
0.969
1.000
1LossND
SAMD12-
-
-
-
3GainND
SAMD14p.Y371H
Missense
SNP
0.484
2-ND
SAMD9p.A364V
Missense
SNP
0.398
2-ND
SAP18-
-
-
-
3GainND
SARAF-
-
-
-
1LossND
SARDHp.G809R
Missense
SNP
1.000
2-ND
SATB1-
-
-
-
1LossND
SAXO1-
-
-
-
1LossND
SBK2p.A299V
Missense
SNP
0.411
2-ND
SBSPON-
-
-
-
3GainND
SC5D-
-
-
-
1LossND
SCAP-
-
-
-
1LossND
SCARA3-
-
-
-
1LossND
SCARA5-
-
-
-
1LossND
SCARB1p.P304L
Missense
SNP
0.449
2-ND
SCEL-
-
-
-
3GainND
SCGB3A1p.G83Vfs*8
Frame_Shift_Del
DEL
0.395
2-ND
SCN10A-
-
-
-
1LossND
SCN11A-
-
-
-
1LossND
SCN2B-
-
-
-
1LossND
SCN3B-
-
-
-
1LossND
SCN4Ap.N333S
Missense
SNP
0.538
2-ND
SCN4B-
-
-
-
1LossND
SCN5A-
-
-
-
1LossND
SCN9Ap.P839L
Missense
SNP
0.520
2-ND
SCP2p.G320R
Missense
SNP
0.551
2-ND
SCRIB-
-
-
-
3GainND
SCRT1-
-
-
-
3GainND
SCUBE2p.V625I
Missense
SNP
0.487
2-ND
SCUBE3p.T274M
Missense
SNP
0.493
2-ND
SDC2-
-
-
-
3GainND
SDC3p.P308L
Missense
SNP
0.525
2-ND
SDCBP-
-
-
-
3GainND
SDF4p.G27R
Missense
SNP
0.491
2-ND
SDHA-
-
-
-
3GainND
SDHD-
-
-
-
1LossND
SDK1p.E1324K
Missense
SNP
0.510
2-ND
SDK2p.R2017Gfs*28
p.D1888N
p.Y529C
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.400
0.440
0.276
2-ND
SDPRp.R82*
Nonsense
SNP
0.497
NDNDND
SDR16C5-
-
-
-
3GainND
SEC11C-
-
-
-
1LossND
SEC13-
-
-
-
1LossND
SEC22C-
-
-
-
1LossND
SEC24Bp.G916E
Missense
SNP
0.468
2-ND
SEC24Cp.T342Yfs*39
Frame_Shift_Ins
INS
0.310
2-ND
SEC61A2-
-
-
-
3GainND
SEC61Bp.M55Cfs*22
Frame_Shift_Del
DEL
0.478
2-ND
SELENOK-
-
-
-
1LossND
SELENOP-
-
-
-
4GainND
SEMA3B-
-
-
-
1LossND
SEMA3Ep.L314Cfs*11
Frame_Shift_Del
DEL
0.284
2-ND
SEMA3F-
-
-
-
1LossND
SEMA3G-
-
-
-
1LossND
SEMA5A-
-
-
-
4GainND
SEMA5Bp.P1142S
Missense
SNP
0.500
2-ND
SEPHS1-
-
-
-
3GainND
SEPT14p.E230G
Missense
SNP
0.500
2-ND
SERF1A-
-
-
-
1LossND
SERF1B-
-
-
-
1LossND
SERP2-
-
-
-
3GainND
SERPINA10p.K216Q
Missense
SNP
0.525
2-ND
SERPINA2p.V232E
Missense
SNP
0.434
NDNDND
SERPINB10-
-
-
-
1LossND
SERPINB11-
-
-
-
1LossND
SERPINB12-
-
-
-
1LossND
SERPINB13-
-
-
-
1LossND
SERPINB2-
-
-
-
1LossND
SERPINB3-
-
-
-
1LossND
SERPINB4-
-
-
-
1LossND
SERPINB5-
-
-
-
1LossND
SERPINB7-
-
-
-
1LossND
SERPINB8-
-
-
-
1LossND
SERPINE3-
-
-
-
3GainND
SERPINI1p.N83Mfs*8
Frame_Shift_Del
DEL
0.519
2-ND
SERTAD2p.R8W
Missense
SNP
0.527
2-ND
SERTM1-
-
-
-
3GainND
SESTD1p.K186N
Missense
SNP
0.354
2-ND
SETBP1p.P981S
Missense
SNP
1.000
1LossND
SETD2-
-
-
-
1LossND
SETD5-
-
-
-
1LossND
SETDB2-
-
-
-
3GainND
SETXp.R745C
Missense
SNP
1.000
2-ND
SF3A1p.S445F
Missense
SNP
0.339
2-ND
SF3B1p.R238C
Missense
SNP
0.535
2-ND
SFMBT1p.P106L
Missense
SNP
1.000
1LossND
SFMBT2-
-
-
-
3GainND
SFRP1-
-
-
-
1LossND
SFTPC-
-
-
-
1LossND
SFXN3p.L285Cfs*14
Frame_Shift_Del
DEL
0.489
2-ND
SGCG-
-
-
-
3GainND
SGCZ-
-
-
-
1LossND
SGK223p.G1140R
Missense
SNP
1.000
NDNDND
SGK3-
-
-
-
3GainND
SGO1-
-
-
-
1LossND
SGO2p.F648Sfs*14
Frame_Shift_Del
DEL
0.394
2-ND
SH2D4A-
-
-
-
1LossND
SH3BP5-
-
-
-
1LossND
SH3GL2-
-
-
-
1LossND
SH3TC2p.V568M
Missense
SNP
0.544
2-ND
SHANK1p.P1511S
p.E1465K
Missense
Missense
SNP
SNP
0.456
0.355
2-ND
SHARPIN-
-
-
-
3GainND
SHB-
-
-
-
1LossND
SHC3p.G411K
Missense
MNP
0.443
2-ND
SHISA2-
-
-
-
3GainND
SHISA5-
-
-
-
1LossND
SHISA8p.G134Rfs*234
Frame_Shift_Ins
INS
0.407
2-ND
SHISA9p.E56K
Missense
SNP
0.441
2-ND
SHQ1-
-
-
-
1LossND
SIAE-
-
-
-
1LossND
SIAH3p.R119P
Missense
SNP
0.266
3GainND
SIDT2-
-
-
-
1LossND
SIGLEC12p.W199C
p.N131S
Missense
Missense
SNP
SNP
0.519
0.468
2-ND
SIGLEC15-
-
-
-
1LossND
SIGMAR1-
-
-
-
1LossND
SIK2-
-
-
-
1LossND
SIK3-
-
-
-
1LossND
SIPA1p.A587T
Missense
SNP
0.340
2-ND
SIT1-
-
-
-
1LossND
SIX1p.S284F
Missense
SNP
0.435
2-ND
SKA1-
-
-
-
1LossND
SKA3-
-
-
-
3GainND
SKOR1p.S147G
Missense
SNP
0.374
2-ND
SKOR2-
-
-
-
1LossND
SKP2-
-
-
-
4GainND
SLA-
-
-
-
3GainND
SLAIN1-
-
-
-
3GainND
SLC10A2-
-
-
-
3GainND
SLC10A5-
-
-
-
3GainND
SLC12A7-
-
-
-
4GainND
SLC13A5p.S430F
Missense
SNP
0.509
2-ND
SLC14A1-
-
-
-
1LossND
SLC14A2-
-
-
-
1LossND
SLC15A1-
-
-
-
3GainND
SLC17A8p.G521R
Missense
SNP
0.476
2-ND
SLC18A1-
-
-
-
1LossND
SLC18A2p.W451R
Missense
SNP
0.435
2-ND
SLC1A1-
-
-
-
1LossND
SLC1A3-
-
-
-
4GainND
SLC20A1p.D409G
Missense
SNP
0.525
2-ND
SLC20A2-
-
-
-
1LossND
SLC22A13-
-
-
-
1LossND
SLC22A14-
-
-
-
1LossND
SLC22A15p.S500L
Missense
SNP
0.445
2-ND
SLC22A9p.G103R
Missense
SNP
0.519
2-ND
SLC24A1p.P112S
Missense
SNP
0.544
2-ND
SLC24A2-
-
-
-
1LossND
SLC24A4p.E296K
Missense
SNP
0.481
2-ND
SLC25A15-
-
-
-
3GainND
SLC25A20-
-
-
-
1LossND
SLC25A24p.D176Y
Missense
SNP
0.429
2-ND
SLC25A26-
-
-
-
1LossND
SLC25A30-
-
-
-
3GainND
SLC25A32p.R22Q
Missense
SNP
0.640
3GainND
SLC25A37-
-
-
-
1LossND
SLC25A38-
-
-
-
1LossND
SLC25A39p.C334R
Missense
SNP
0.416
2-ND
SLC25A51-
-
-
-
1LossND
SLC25A52-
-
-
-
1LossND
SLC26A2p.V162M
Missense
SNP
0.482
2-ND
SLC26A6-
-
-
-
1LossND
SLC26A7-
-
-
-
3GainND
SLC2A2p.E282Kfs*10
p.Y325C
Frame_Shift_Del
Missense
DEL
SNP
0.451
0.443
2-ND
SLC30A8-
-
-
-
3GainND
SLC35F2-
-
-
-
1LossND
SLC35G5-
-
-
-
1LossND
SLC37A2-
-
-
-
1LossND
SLC37A4-
-
-
-
1LossND
SLC38A3-
-
-
-
1LossND
SLC39A10p.Y62Ifs*4
Frame_Shift_Ins
INS
0.289
2-ND
SLC39A12-
-
-
-
3GainND
SLC39A14-
-
-
-
1LossND
SLC39A4-
-
-
-
3GainND
SLC39A6-
-
-
-
1LossND
SLC44A3p.L62F
Missense
SNP
0.420
2-ND
SLC44A4p.F618Sfs*25
Frame_Shift_Del
DEL
0.489
2-ND
SLC45A2-
-
-
-
4GainND
SLC45A4p.Y586C
Missense
SNP
0.643
3GainND
SLC46A3-
-
-
-
3GainND
SLC4A10p.I542M
p.L557F
Missense
Missense
SNP
SNP
0.447
0.457
2-ND
SLC4A7-
-
-
-
1LossND
SLC52A2-
-
-
-
3GainND
SLC5A7p.D469N
Missense
SNP
0.509
2-ND
SLC6A1-
-
-
-
1LossND
SLC6A11-
-
-
-
1LossND
SLC6A16p.T85A
Missense
SNP
0.422
2-ND
SLC6A18-
-
-
-
4GainND
SLC6A19-
-
-
-
4GainND
SLC6A20-
-
-
-
1LossND
SLC6A3p.E36K
Missense
SNP
0.296
4GainND
SLC6A6-
-
-
-
1LossND
SLC7A1-
-
-
-
3GainND
SLC7A13-
-
-
-
3GainND
SLC7A14p.P113S
p.L27I
Missense
Missense
SNP
SNP
0.398
0.602
2-ND
SLC7A2-
-
-
-
1LossND
SLC7A6OSp.Q188*
Nonsense
SNP
0.051
2-ND
SLC9A3-
-
-
-
3GainND
SLC9C1p.M95I
Missense
SNP
0.436
2-ND
SLCO3A1p.E667K
Missense
SNP
0.398
2-ND
SLCO5A1p.Y222Tfs*6
p.E460Q
Frame_Shift_Del
Missense
DEL
SNP
0.636
0.529
3GainND
SLFN12p.S227F
Missense
SNP
0.421
2-ND
SLIT2p.G909S
Missense
SNP
0.430
2-ND
SLIT3p.K561N
p.Q144H
Missense
Missense
SNP
SNP
0.435
0.561
2-ND
SLITRK1-
-
-
-
3GainND
SLITRK2p.S663Kfs*13
Frame_Shift_Ins
INS
0.496
NDNDND
SLITRK3p.S528F
p.G65E
Missense
Missense
SNP
SNP
0.443
0.518
2-ND
SLITRK5p.S346F
p.G441R
p.S701N
Missense
Missense
Missense
SNP
SNP
SNP
0.370
0.657
0.376
3GainND
SLITRK6-
-
-
-
3GainND
SLMAP-
-
-
-
1LossND
SLN-
-
-
-
1LossND
SLURP1-
-
-
-
3GainND
SLURP2-
-
-
-
3GainND
SMAD2-
-
-
-
1LossND
SMAD4-
-
-
-
1LossND
SMAD7-
-
-
-
1LossND
SMAD9p.A247S
Missense
SNP
0.307
3GainND
SMARCA2-
-
-
-
1LossND
SMARCC1-
-
-
-
1LossND
SMC1Bp.N191Ifs*2
Frame_Shift_Del
DEL
0.461
2-ND
SMG1p.F3008Lfs*10
p.G2889C
Frame_Shift_Del
Missense
DEL
SNP
0.380
0.401
2-ND
SMG7p.M803*
p.G647R
Frame_Shift_Del
Missense
DEL
SNP
0.449
0.510
2-ND
SMIM18-
-
-
-
1LossND
SMIM19-
-
-
-
1LossND
SMIM2-
-
-
-
3GainND
SMIM21-
-
-
-
1LossND
SMIM27-
-
-
-
1LossND
SMIM4-
-
-
-
1LossND
SMN1-
-
-
-
1LossND
SMN2-
-
-
-
1LossND
SMOXp.P236L
Missense
SNP
0.589
2-ND
SMPD3p.R164W
Missense
SNP
0.580
2-ND
SMPD4-
-
-
-
1LossND
SMU1-
-
-
-
1LossND
SMYD3p.Q388Kfs*3
p.S289F
Frame_Shift_Del
Missense
DEL
SNP
0.467
0.442
2-ND
SNAI2-
-
-
-
3GainND
SNAPC3-
-
-
-
1LossND
SNED1p.P1222Rfs*35
Frame_Shift_Del
DEL
0.514
2-ND
SNRK-
-
-
-
1LossND
SNTB1p.W212*
Nonsense
SNP
0.292
3GainND
SNTG1p.R354Q
Missense
SNP
0.348
3GainND
SNTN-
-
-
-
1LossND
SNX16-
-
-
-
3GainND
SNX17p.R302C
Missense
SNP
0.457
2-ND
SNX19-
-
-
-
1LossND
SNX31-
-
-
-
3GainND
SOAT1p.R350W
Missense
SNP
0.455
2-ND
SOCS6-
-
-
-
1LossND
SOCS7p.P334S
Missense
SNP
0.516
2-ND
SOD3p.A95T
Missense
SNP
0.448
2-ND
SOGA3p.V946Cfs*28
Frame_Shift_Ins
INS
0.353
2-ND
SOHLH2-
-
-
-
3GainND
SORBS3-
-
-
-
1LossND
SORCS1p.P315Q
p.A113V
Missense
Missense
SNP
SNP
0.502
0.494
2-ND
SORCS2p.F241Y
Missense
SNP
0.531
2-ND
SORCS3p.G943R
Missense
SNP
0.444
2-ND
SORL1p.V2209I
Missense
SNP
1.000
1LossND
SOWAHAp.P148Rfs*23
Frame_Shift_Del
DEL
0.433
2-ND
SOWAHBp.E114Sfs*133
Frame_Shift_Del
DEL
0.444
2-ND
SOX1-
-
-
-
3GainND
SOX11p.E36K
Missense
SNP
0.419
2-ND
SOX17-
-
-
-
3GainND
SOX21-
-
-
-
3GainND
SOX4p.S394T
Missense
SNP
0.510
2-ND
SOX6p.G777K
Missense
MNP
0.473
2-ND
SOX7-
-
-
-
1LossND
SP140p.P292L
Missense
SNP
0.541
2-ND
SPA17-
-
-
-
1LossND
SPAAR-
-
-
-
1LossND
SPACA7-
-
-
-
3GainND
SPAG1-
-
-
-
3GainND
SPAG11A-
-
-
-
1LossND
SPAG11Bp.F94S
Missense
SNP
0.524
1LossND
SPAG16p.X93_splice
p.G311D
Splice_Site
Missense
SNP
SNP
0.490
0.403
2-ND
SPAG8-
-
-
-
1LossND
SPART-
-
-
-
3GainND
SPATA12-
-
-
-
1LossND
SPATA13-
-
-
-
3GainND
SPATA18p.E146K
Missense
SNP
0.588
2-ND
SPATA19-
-
-
-
1LossND
SPATA31A1-
-
-
-
1LossND
SPATA31A3-
-
-
-
1LossND
SPATA31A7-
-
-
-
1LossND
SPATA31D1p.M1249I
Missense
SNP
0.467
2-ND
SPATA31E1p.P1043L
p.G1280S
Missense
Missense
SNP
SNP
0.555
0.431
2-ND
SPATA6L-
-
-
-
1LossND
SPATC1-
-
-
-
3GainND
SPCS1-
-
-
-
1LossND
SPDEFp.E188K
Missense
SNP
0.511
2-ND
SPDYCp.G193W
Missense
SNP
0.456
2-ND
SPDYE2B-
-
-
-
1LossND
SPEF2p.S988L
Missense
SNP
0.740
4GainND
SPEGp.E1902Rfs*24
p.G2057C
Frame_Shift_Ins
Missense
INS
SNP
0.282
0.477
2-ND
SPERT-
-
-
-
3GainND
SPIDR-
-
-
-
3GainND
SPINK4-
-
-
-
1LossND
SPINK8-
-
-
-
1LossND
SPOCD1p.R71W
Missense
SNP
0.526
2-ND
SPRY2-
-
-
-
3GainND
SPRYD7-
-
-
-
3GainND
SPSB3p.H89N
Missense
SNP
0.513
2-ND
SPTA1p.E1707K
p.G1243E
Missense
Missense
SNP
SNP
0.542
0.333
2-ND
SPTBp.W63*
Nonsense
SNP
0.502
2-ND
SPTBN2p.Q263*
Nonsense
SNP
0.536
2-ND
SQLE-
-
-
-
3GainND
SRBD1p.H829Y
Missense
SNP
0.508
2-ND
SRCp.G29K
p.P171S
Missense
Missense
MNP
SNP
0.442
0.457
2-ND
SRCAPp.R945*
Nonsense
SNP
0.502
2-ND
SRCIN1p.A358D
Missense
SNP
0.441
2-ND
SRD5A1-
-
-
-
4GainND
SRGAP3-
-
-
-
1LossND
SRP72p.V9Cfs*10
Frame_Shift_Del
DEL
0.400
2-ND
SRPRA-
-
-
-
1LossND
SRRM1p.K37Rfs*4
Frame_Shift_Del
DEL
0.413
2-ND
SS18-
-
-
-
1LossND
SS18L2-
-
-
-
1LossND
SSMEM1p.M101I
Missense
SNP
0.500
2-ND
SSPOp.H3147Y
Missense
SNP
0.570
2-ND
SSUH2-
-
-
-
1LossND
SSX1p.L104H
Missense
SNP
1.000
NDNDND
ST14-
-
-
-
1LossND
ST18p.T583S
Missense
SNP
0.363
3GainND
ST3GAL1-
-
-
-
3GainND
ST3GAL4-
-
-
-
1LossND
ST8SIA3-
-
-
-
1LossND
ST8SIA5-
-
-
-
1LossND
ST8SIA6-
-
-
-
3GainND
STAB1-
-
-
-
1LossND
STAC-
-
-
-
1LossND
STAC3p.E75_E76del
In_Frame_Del
DEL
0.436
2-ND
STAM-
-
-
-
3GainND
STAMBPL1p.K405Rfs*21
Frame_Shift_Del
DEL
0.459
2-ND
STAR-
-
-
-
1LossND
STARD13-
-
-
-
3GainND
STARD6-
-
-
-
1LossND
STATHp.G31E
Missense
SNP
0.436
2-ND
STAU2-
-
-
-
3GainND
STC1-
-
-
-
1LossND
STC2p.N152S
Missense
SNP
0.452
2-ND
STEAP4p.G35R
Missense
SNP
0.273
2-ND
STILp.P10S
Missense
SNP
0.585
2-ND
STIMATE-
-
-
-
1LossND
STK10p.S387F
Missense
SNP
0.512
2-ND
STK24-
-
-
-
3GainND
STK3-
-
-
-
3GainND
STK31p.P701L
Missense
SNP
0.487
2-ND
STK32Bp.E226K
Missense
SNP
0.487
2-ND
STK38Lp.W149*
Nonsense
SNP
0.374
2-ND
STMN2-
-
-
-
3GainND
STMN4-
-
-
-
1LossND
STOMp.F83Lfs*14
Frame_Shift_Del
DEL
0.474
2-ND
STOML2-
-
-
-
1LossND
STOML3-
-
-
-
3GainND
STPG1p.T215Pfs*5
Frame_Shift_Del
DEL
0.493
2-ND
STRCp.L1297Sfs*29
Frame_Shift_Del
DEL
0.525
2-ND
STRIP2p.R696Q
Missense
SNP
0.465
2-ND
STT3A-
-
-
-
1LossND
STT3B-
-
-
-
1LossND
SUB1-
-
-
-
4GainND
SUCLA2p.M61L
Missense
SNP
0.285
3GainND
SUCLG2-
-
-
-
1LossND
SUGT1-
-
-
-
3GainND
SULF1-
-
-
-
3GainND
SULF2p.E393K
Missense
SNP
0.471
2-ND
SUMF2p.X111_splice
Splice_Site
SNP
0.457
2-ND
SUPT16Hp.Y567N
Missense
SNP
0.540
2-ND
SUPT20H-
-
-
-
3GainND
SUSD5-
-
-
-
1LossND
SUV39H2-
-
-
-
3GainND
SVILp.A765E
Missense
SNP
0.416
2-ND
SWAP70p.E457K
Missense
SNP
0.429
2-ND
SYBU-
-
-
-
3GainND
SYCE1p.G314E
Missense
SNP
0.524
2-ND
SYCP1p.G629Vfs*8
Frame_Shift_Del
DEL
0.354
2-ND
SYN1p.G160R
Missense
SNP
1.000
NDNDND
SYN2-
-
-
-
1LossND
SYNCp.E370K
Missense
SNP
0.462
2-ND
SYNE1p.R3253I
Missense
SNP
0.443
2-ND
SYNE2p.N1656Mfs*19
p.Q2620*
p.Q2881*
Frame_Shift_Del
Nonsense
Nonsense
DEL
SNP
SNP
0.384
0.517
0.479
2-ND
SYNJ2p.P1113Lfs*5
Frame_Shift_Del
DEL
0.553
2-ND
SYNPR-
-
-
-
1LossND
SYNRGp.P86H
Missense
SNP
0.427
2-ND
SYT1p.F154S
p.S309F
Missense
Missense
SNP
SNP
0.406
0.498
2-ND
SYT17p.D385N
Missense
SNP
0.432
2-ND
SYT4-
-
-
-
1LossND
SZT2p.Q1379*
p.W2051*
Nonsense
Nonsense
SNP
MNP
0.566
0.488
2-ND
TAAR8p.T144I
Missense
SNP
0.467
2-ND
TACC1-
-
-
-
1LossND
TADA3-
-
-
-
1LossND
TAF1L-
-
-
-
1LossND
TAF2-
-
-
-
3GainND
TAF3p.R314H
Missense
SNP
0.360
3GainND
TAF4B-
-
-
-
1LossND
TAF5p.D408Ifs*25
Frame_Shift_Del
DEL
0.530
2-ND
TAGLN-
-
-
-
1LossND
TAMM41-
-
-
-
1LossND
TAOK1p.G909D
Missense
SNP
0.461
2-ND
TAOK2p.R285W
p.P1022S
Missense
Missense
SNP
SNP
0.632
0.731
2-ND
TARS-
-
-
-
4GainND
TAS2R1-
-
-
-
4GainND
TAS2R38p.S74I
Missense
SNP
0.513
2-ND
TATp.P81S
Missense
SNP
0.452
2-ND
TATDN1-
-
-
-
3GainND
TATDN2p.S340F
Missense
SNP
1.000
1LossND
TBATAp.S210R
Missense
SNP
0.452
2-ND
TBC1D14p.F543Lfs*9
Frame_Shift_Del
DEL
0.488
2-ND
TBC1D20p.R261H
Missense
SNP
0.437
2-ND
TBC1D21p.D333N
Missense
SNP
0.457
2-ND
TBC1D2Bp.E608K
Missense
SNP
0.472
2-ND
TBC1D3-
-
-
-
1LossND
TBC1D31-
-
-
-
3GainND
TBC1D3C-
-
-
-
1LossND
TBC1D3D-
-
-
-
1LossND
TBC1D3E-
-
-
-
1LossND
TBC1D3K-
-
-
-
1LossND
TBC1D3L-
-
-
-
1LossND
TBC1D4p.R293W
p.E61D
Missense
Missense
SNP
SNP
0.312
0.664
3GainND
TBC1D5-
-
-
-
1LossND
TBC1D7p.P289L
Missense
MNP
0.612
2-ND
TBC1D9Bp.A959V
Missense
SNP
0.574
2-ND
TBCDp.G834E
Missense
SNP
0.515
2-ND
TBCEL-
-
-
-
1LossND
TBCKp.Y579H
Missense
SNP
0.537
2-ND
TBL1XR1p.N126Mfs*16
Frame_Shift_Del
DEL
0.525
2-ND
TBPp.P26S
Missense
SNP
0.479
2-ND
TBRG1-
-
-
-
1LossND
TBX21p.G465E
Missense
SNP
0.458
2-ND
TBX3p.G529Afs*103
Frame_Shift_Del
DEL
0.570
2-ND
TBX4p.P371Lfs*8
Frame_Shift_Del
DEL
0.515
2-ND
TBX6p.P275S
Missense
SNP
0.536
2-ND
TCAIM-
-
-
-
1LossND
TCEA1-
-
-
-
3GainND
TCERG1Lp.L256F
Missense
SNP
0.485
2-ND
TCF24-
-
-
-
3GainND
TCF4-
-
-
-
1LossND
TCF7L1p.P563L
Missense
SNP
0.625
2-ND
TCF7L2p.E29del
In_Frame_Del
DEL
0.444
2-ND
TCIM-
-
-
-
1LossND
TCTA-
-
-
-
1LossND
TDGF1-
-
-
-
1LossND
TDRD3-
-
-
-
3GainND
TDRP-
-
-
-
1LossND
TECPR2p.P1329L
Missense
SNP
0.505
2-ND
TECTAp.K904E
Missense
SNP
1.000
1LossND
TEK-
-
-
-
1LossND
TENT4A-
-
-
-
4GainND
TEP1p.Y821N
p.P693S
Missense
Missense
SNP
SNP
0.526
0.333
2-ND
TERF1-
-
-
-
3GainND
TERT-
-
-
-
4GainND
TESK1-
-
-
-
1LossND
TET1p.Q1323H
p.K1769E
Missense
Missense
SNP
SNP
0.541
0.442
2-ND
TEX10p.V73I
Missense
SNP
0.445
2-ND
TEX11p.W764R
Missense
SNP
1.000
NDNDND
TEX12-
-
-
-
1LossND
TEX15p.D1344N
Missense
SNP
1.000
1LossND
TEX26-
-
-
-
3GainND
TEX264-
-
-
-
1LossND
TEX29-
-
-
-
3GainND
TEX30-
-
-
-
3GainND
TFAP2Dp.H75Y
p.P313S
Missense
Missense
SNP
SNP
0.521
0.588
2-ND
TFDP1-
-
-
-
3GainND
TGp.Q182*
p.M673I
Nonsense
Missense
SNP
SNP
0.329
0.337
3GainND
TGDS-
-
-
-
3GainND
TGFBR2-
-
-
-
1LossND
TGIF2LXp.H131Y
Missense
SNP
1.000
NDNDND
TGM4-
-
-
-
1LossND
TGS1-
-
-
-
3GainND
THAP1-
-
-
-
1LossND
THAP5p.Q186R
Missense
SNP
0.509
2-ND
THAP9p.F341Lfs*2
Frame_Shift_Del
DEL
0.459
2-ND
THBS4p.N610S
Missense
SNP
0.653
2-ND
THEM6-
-
-
-
3GainND
THOC7-
-
-
-
1LossND
THRAP3p.S234A
p.P905S
Missense
Missense
SNP
SNP
0.490
0.475
2-ND
THRAP3P1.
Splice_Site
SNP
1.000
NDNDND
THRB-
-
-
-
1LossND
THRSPp.Q50*
Nonsense
SNP
0.464
2-ND
THSD1-
-
-
-
3GainND
THUMPD3-
-
-
-
1LossND
THY1-
-
-
-
1LossND
THYN1-
-
-
-
1LossND
TIA1p.P187L
Missense
SNP
0.524
2-ND
TIGD3p.Q115*
Nonsense
SNP
0.423
2-ND
TIGD5-
-
-
-
3GainND
TIGD7p.R499K
Missense
SNP
0.467
2-ND
TIMM21-
-
-
-
1LossND
TIMM8B-
-
-
-
1LossND
TIMP4-
-
-
-
1LossND
TIRAP-
-
-
-
1LossND
TK2p.S21I
Missense
SNP
0.541
2-ND
TKFCp.A187T
Missense
SNP
0.476
2-ND
TKT-
-
-
-
1LossND
TKTL1p.I264Hfs*2
Frame_Shift_Ins
INS
0.461
NDNDND
TLL1p.R867_V869del
In_Frame_Del
DEL
0.350
2-ND
TLN1-
-
-
-
1LossND
TLR4p.E225K
Missense
SNP
1.000
2-ND
TLR9-
-
-
-
1LossND
TM2D2-
-
-
-
1LossND
TM9SF2-
-
-
-
3GainND
TMA16p.V16Sfs*25
Frame_Shift_Del
DEL
0.390
2-ND
TMA7-
-
-
-
1LossND
TMC4p.E133K
Missense
SNP
0.381
2-ND
TMCO3-
-
-
-
3GainND
TMEM110-MUSTN1-
-
-
-
1LossND
TMEM115-
-
-
-
1LossND
TMEM132Ep.I378S
Missense
SNP
0.508
2-ND
TMEM136-
-
-
-
1LossND
TMEM139p.Y209Mfs*10
Frame_Shift_Del
DEL
0.403
2-ND
TMEM143p.G261S
Missense
SNP
0.431
2-ND
TMEM158-
-
-
-
1LossND
TMEM168p.S130F
Missense
SNP
0.514
2-ND
TMEM215-
-
-
-
1LossND
TMEM218-
-
-
-
1LossND
TMEM225-
-
-
-
1LossND
TMEM236-
-
-
-
3GainND
TMEM241-
-
-
-
1LossND
TMEM249-
-
-
-
3GainND
TMEM25-
-
-
-
1LossND
TMEM255B-
-
-
-
3GainND
TMEM259p.T199M
Missense
SNP
1.000
2-ND
TMEM267-
-
-
-
4GainND
TMEM272-
-
-
-
3GainND
TMEM30Ap.Y122S
Missense
SNP
0.600
2-ND
TMEM40-
-
-
-
1LossND
TMEM42-
-
-
-
1LossND
TMEM43-
-
-
-
1LossND
TMEM45B-
-
-
-
1LossND
TMEM64-
-
-
-
3GainND
TMEM65-
-
-
-
3GainND
TMEM67-
-
-
-
3GainND
TMEM68-
-
-
-
3GainND
TMEM70-
-
-
-
3GainND
TMEM71-
-
-
-
3GainND
TMEM74-
-
-
-
3GainND
TMEM89-
-
-
-
1LossND
TMEM8B-
-
-
-
1LossND
TMEM9p.L59M
Missense
SNP
0.527
2-ND
TMF1-
-
-
-
1LossND
TMIE-
-
-
-
1LossND
TMPPE-
-
-
-
1LossND
TMPRSS13-
-
-
-
1LossND
TMPRSS4-
-
-
-
1LossND
TMPRSS5p.A430T
Missense
SNP
1.000
1LossND
TMTC3p.H67L
Missense
SNP
0.422
2-ND
TMTC4-
-
-
-
3GainND
TMUB1p.S127F
Missense
SNP
0.469
2-ND
TMX3-
-
-
-
1LossND
TNCp.R1309C
Missense
SNP
1.000
2-ND
TNFAIP8L3p.G28R
Missense
SNP
0.544
2-ND
TNFRSF10A-
-
-
-
1LossND
TNFRSF10B-
-
-
-
1LossND
TNFRSF10C-
-
-
-
1LossND
TNFRSF10D-
-
-
-
1LossND
TNFRSF11A-
-
-
-
1LossND
TNFRSF11B-
-
-
-
3GainND
TNFRSF19-
-
-
-
3GainND
TNFRSF4p.S24R
Missense
SNP
0.583
2-ND
TNFSF11-
-
-
-
3GainND
TNFSF13B-
-
-
-
3GainND
TNK2p.P711Afs*4
p.Q571Sfs*3
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.246
0.434
2-ND
TNKS-
-
-
-
1LossND
TNNC1-
-
-
-
1LossND
TNPO3p.Q271Rfs*4
Frame_Shift_Del
DEL
0.486
2-ND
TNRC6Bp.H1671N
Missense
SNP
0.453
2-ND
TNS3p.L693M
Missense
SNP
0.432
2-ND
TNXBp.G1057E
p.G185R
Missense
Missense
SNP
SNP
0.455
0.462
2-ND
TOMM5-
-
-
-
1LossND
TONSL-
-
-
-
3GainND
TOP1MT-
-
-
-
3GainND
TOP2B-
-
-
-
1LossND
TOPAZ1-
-
-
-
1LossND
TOPORS-
-
-
-
1LossND
TOX-
-
-
-
3GainND
TP53p.Q317R
p.P278A
p.W91*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.508
0.593
0.500
2-ND
TP53AIP1-
-
-
-
1LossND
TP53BP1p.E716Nfs*12
Frame_Shift_Del
DEL
0.433
2-ND
TP53BP2p.P92Lfs*6
Frame_Shift_Del
DEL
0.493
2-ND
TP53INP1-
-
-
-
3GainND
TP73p.S492I
Missense
SNP
0.506
2-ND
TPD52-
-
-
-
3GainND
TPD52L3-
-
-
-
1LossND
TPGS2-
-
-
-
1LossND
TPM2-
-
-
-
1LossND
TPP2p.S566F
Missense
SNP
0.683
3GainND
TPPP-
-
-
-
3GainND
TPT1-
-
-
-
3GainND
TRAF1p.P79L
Missense
SNP
1.000
2-ND
TRAF3IP2p.M52Nfs*41
Frame_Shift_Ins
INS
0.312
2-ND
TRAFD1p.D6Y
p.Q253K
Missense
Missense
SNP
SNP
0.496
0.439
2-ND
TRAIP-
-
-
-
1LossND
TRAK1-
-
-
-
1LossND
TRAM1-
-
-
-
3GainND
TRANK1-
-
-
-
1LossND
TRAPPC4-
-
-
-
1LossND
TRAPPC8-
-
-
-
1LossND
TRAPPC9-
-
-
-
3GainND
TRAV2p.E101Gfs*?
Frame_Shift_Ins
INS
0.326
NDNDND
TRAV26-1p.D18N
Missense
SNP
0.434
NDNDND
TRBV5-5p.A106V
Missense
SNP
0.449
NDNDND
TRDMT1-
-
-
-
3GainND
TREH-
-
-
-
1LossND
TREX1-
-
-
-
1LossND
TRGV5p.W3R
Missense
SNP
0.418
NDNDND
TRHR-
-
-
-
3GainND
TRIB1-
-
-
-
3GainND
TRILp.P674S
Missense
SNP
0.548
2-ND
TRIM13-
-
-
-
3GainND
TRIM29-
-
-
-
1LossND
TRIM35-
-
-
-
1LossND
TRIM36p.G408E
Missense
SNP
0.547
2-ND
TRIM39p.L290F
Missense
SNP
0.557
2-ND
TRIM44p.A206Gfs*15
Frame_Shift_Ins
INS
0.303
2-ND
TRIM5p.P323S
Missense
SNP
0.543
2-ND
TRIM55-
-
-
-
3GainND
TRIM63p.R45L
Missense
SNP
0.642
2-ND
TRIM71-
-
-
-
1LossND
TRIML2p.V52M
Missense
SNP
0.473
2-ND
TRIO-
-
-
-
4GainND
TRIOBPp.D62A
Missense
SNP
0.404
2-ND
TRIP12p.G1332S
p.X424_splice
Missense
Splice_Site
SNP
SNP
0.510
0.595
2-ND
TRIP13-
-
-
-
4GainND
TRIQK-
-
-
-
3GainND
TRMT10B-
-
-
-
1LossND
TRMT10Cp.K139R
Missense
SNP
0.420
2-ND
TRMT12-
-
-
-
3GainND
TRMT2Ap.P146L
Missense
SNP
0.472
2-ND
TRMT5p.H333Y
Missense
SNP
0.500
2-ND
TRMT9B-
-
-
-
1LossND
TROp.G1128S
Missense
SNP
1.000
NDNDND
TRPA1-
-
-
-
3GainND
TRPC4-
-
-
-
3GainND
TRPM5p.G1093W
Missense
SNP
0.382
2-ND
TRPS1-
-
-
-
3GainND
TRPV2p.M39I
Missense
SNP
0.509
2-ND
TRPV4p.R249H
Missense
SNP
0.487
2-ND
TRRAPp.R1015W
Missense
SNP
0.409
2-ND
TSC2p.A1429V
Missense
SNP
0.513
2-ND
TSC22D1-
-
-
-
3GainND
TSEN2-
-
-
-
1LossND
TSHZ1p.D71G
p.W892*
Missense
Nonsense
SNP
SNP
0.989
1.000
1LossND
TSNARE1-
-
-
-
3GainND
TSPYL5-
-
-
-
3GainND
TSTA3-
-
-
-
3GainND
TTC12-
-
-
-
1LossND
TTC21A-
-
-
-
1LossND
TTC23L-
-
-
-
4GainND
TTC33-
-
-
-
4GainND
TTC36-
-
-
-
1LossND
TTC37p.Q1468*
Nonsense
SNP
0.478
2-ND
TTC39B-
-
-
-
1LossND
TTC39C-
-
-
-
1LossND
TTC7Bp.A833V
Missense
SNP
0.561
2-ND
TTI2-
-
-
-
1LossND
TTKp.K857Nfs*36
Frame_Shift_Del
DEL
0.560
2-ND
TTLL3-
-
-
-
1LossND
TTLL4p.Q129P
p.K688N
Missense
Missense
SNP
SNP
0.498
0.481
2-ND
TTNp.F6763Lfs*7
p.Y31580N
p.G28618K
p.E14315A
p.P11528L
p.S5136L
p.W3090*
p.P68L
Frame_Shift_Del
Missense
Missense
Missense
Missense
Missense
Nonsense
Missense
DEL
SNP
MNP
SNP
SNP
SNP
SNP
SNP
0.464
0.402
0.493
0.420
0.514
0.487
0.434
0.495
2-ND
TTPA-
-
-
-
3GainND
TTR-
-
-
-
1LossND
TUBAL3p.V188M
Missense
SNP
0.264
3GainND
TUBB8-
-
-
-
3GainND
TUBGCP3-
-
-
-
3GainND
TUBGCP5p.M527*
Frame_Shift_Del
DEL
0.431
2-ND
TULP2p.E217K
Missense
SNP
0.537
2-ND
TULP4p.R403Afs*24
p.S530F
Frame_Shift_Del
Missense
DEL
SNP
0.485
0.553
2-ND
TUSC1-
-
-
-
1LossND
TUSC2-
-
-
-
1LossND
TUSC3-
-
-
-
1LossND
TUT1p.F54Sfs*29
Frame_Shift_Del
DEL
0.323
2-ND
TWF2-
-
-
-
1LossND
TWISTNBp.K311Rfs*15
Frame_Shift_Del
DEL
0.439
2-ND
TXKp.R394K
Missense
SNP
0.425
2-ND
TXLNBp.G113E
Missense
SNP
0.521
2-ND
TXNL1-
-
-
-
1LossND
TXNL4A-
-
-
-
1LossND
TYRP1-
-
-
-
1LossND
UBA1p.N1041K
Missense
SNP
1.000
NDNDND
UBA2p.L523P
Missense
SNP
0.490
2-ND
UBA3-
-
-
-
1LossND
UBA7-
-
-
-
1LossND
UBAC2-
-
-
-
3GainND
UBAP1-
-
-
-
1LossND
UBAP2-
-
-
-
1LossND
UBASH3B-
-
-
-
1LossND
UBE2E1-
-
-
-
1LossND
UBE2E2-
-
-
-
1LossND
UBE2Q2P6.
Splice_Site
SNP
0.269
NDNDND
UBE2QL1-
-
-
-
4GainND
UBE2R2-
-
-
-
1LossND
UBE2V2-
-
-
-
3GainND
UBE2W-
-
-
-
3GainND
UBE2Zp.K105E
Missense
SNP
0.393
2-ND
UBE3Bp.D823N
Missense
SNP
0.526
2-ND
UBE4A-
-
-
-
1LossND
UBL3-
-
-
-
3GainND
UBP1-
-
-
-
1LossND
UBR1p.C1541G
Missense
SNP
0.480
2-ND
UBR3p.R1183*
Nonsense
SNP
0.450
2-ND
UBR5-
-
-
-
3GainND
UBXN2B-
-
-
-
3GainND
UBXN8-
-
-
-
1LossND
UCHL3p.R141H
Missense
SNP
0.576
3GainND
UCMA-
-
-
-
3GainND
UCN2-
-
-
-
1LossND
UCN3-
-
-
-
3GainND
UFM1-
-
-
-
3GainND
UGGT1p.D1432G
Missense
SNP
0.500
2-ND
UGGT2-
-
-
-
3GainND
UGT1A6p.A470V
Missense
SNP
0.514
2-ND
UGT2A1-
-
-
-
1LossND
UGT2A2-
-
-
-
1LossND
UGT2A3-
-
-
-
1LossND
UGT2B10p.S191F
Missense
SNP
0.544
1LossND
UGT2B11-
-
-
-
1LossND
UGT2B15-
-
-
-
1LossND
UGT2B17-
-
-
-
1LossND
UGT2B28-
-
-
-
1LossND
UGT2B4p.K524R
Missense
SNP
0.445
1LossND
UGT2B7p.V28M
Missense
SNP
0.486
1LossND
UGT3A1-
-
-
-
4GainND
UGT3A2-
-
-
-
4GainND
UHRF1p.D379N
Missense
SNP
0.375
2-ND
UHRF2-
-
-
-
1LossND
ULK4-
-
-
-
1LossND
UNC13Ap.Q360H
Missense
SNP
0.473
2-ND
UNC13B-
-
-
-
1LossND
UNC13Cp.D275N
p.G420R
Missense
Missense
SNP
SNP
0.496
0.514
2-ND
UNC5Cp.E121K
Missense
SNP
0.367
2-ND
UNC5CLp.R38K
Missense
SNP
0.500
2-ND
UNC5Dp.P511S
p.P843L
Missense
Missense
SNP
SNP
1.000
0.991
1LossND
UNKp.I621V
Missense
SNP
0.509
2-ND
UPB1p.N197Tfs*34
Frame_Shift_Del
DEL
0.441
2-ND
UPF1p.L219F
Missense
SNP
0.569
2-ND
UPF2-
-
-
-
3GainND
UPF3A-
-
-
-
3GainND
UPK2-
-
-
-
1LossND
UPK3BL1-
-
-
-
1LossND
UQCRB-
-
-
-
3GainND
UQCRC1-
-
-
-
1LossND
URAD-
-
-
-
3GainND
USH2Ap.L4479F
Missense
SNP
0.402
2-ND
USP12-
-
-
-
3GainND
USP19-
-
-
-
1LossND
USP2-
-
-
-
1LossND
USP28-
-
-
-
1LossND
USP29p.N171D
Missense
SNP
0.500
2-ND
USP36p.P710S
Missense
SNP
0.629
2-ND
USP39p.T432I
Missense
SNP
0.447
2-ND
USP4-
-
-
-
1LossND
USP6p.P776H
Missense
SNP
0.564
2-ND
USP6NLp.R704P
Missense
SNP
0.327
3GainND
USPL1-
-
-
-
3GainND
UTP14C-
-
-
-
3GainND
UTP23-
-
-
-
3GainND
UTRNp.A1050T
p.G2511R
Missense
Missense
SNP
SNP
0.420
0.528
2-ND
UVRAGp.S237Vfs*6
Frame_Shift_Del
DEL
0.519
2-ND
VARS2p.A187T
p.R638H
Missense
Missense
SNP
SNP
0.471
0.551
2-ND
VCANp.D3375G
Missense
SNP
0.504
2-ND
VCP-
-
-
-
1LossND
VCPIP1-
-
-
-
3GainND
VDAC3-
-
-
-
1LossND
VEGFBp.T166A
Missense
SNP
0.321
2-ND
VEZTp.K199Nfs*20
Frame_Shift_Del
DEL
0.484
2-ND
VGLL1p.P107H
Missense
SNP
1.000
NDNDND
VGLL4-
-
-
-
1LossND
VHL-
-
-
-
1LossND
VILL-
-
-
-
1LossND
VIM-
-
-
-
3GainND
VIPp.R138K
Missense
SNP
0.493
2-ND
VIPR1-
-
-
-
1LossND
VIRMA-
-
-
-
3GainND
VLDLR-
-
-
-
1LossND
VN1R2p.S106L
Missense
SNP
0.497
2-ND
VPS11p.P136S
Missense
SNP
1.000
1LossND
VPS13B-
-
-
-
3GainND
VPS26B-
-
-
-
1LossND
VPS28-
-
-
-
3GainND
VPS36-
-
-
-
3GainND
VPS37A-
-
-
-
1LossND
VPS4Ap.K287N
Missense
SNP
0.537
2-ND
VPS4B-
-
-
-
1LossND
VSIG10p.P339Lfs*7
Frame_Shift_Del
DEL
0.429
2-ND
VSIG10L2-
-
-
-
1LossND
VSIG2-
-
-
-
1LossND
VSIG8p.G304S
Missense
SNP
0.406
2-ND
VWA5A-
-
-
-
1LossND
VWA5B1p.A249D
Missense
SNP
0.450
2-ND
VWA8-
-
-
-
3GainND
VXN-
-
-
-
3GainND
WARSp.Q255*
Nonsense
SNP
0.519
2-ND
WASF3p.P353S
Missense
SNP
0.647
3GainND
WASHC5-
-
-
-
3GainND
WBP4-
-
-
-
3GainND
WBSCR17p.R66Afs*24
p.P258S
Frame_Shift_Ins
Missense
INS
SNP
0.325
0.523
NDNDND
WDFY2-
-
-
-
3GainND
WDR20p.A267V
Missense
SNP
0.489
2-ND
WDR37-
-
-
-
3GainND
WDR48-
-
-
-
1LossND
WDR49p.G223R
Missense
SNP
0.387
2-ND
WDR6-
-
-
-
1LossND
WDR60p.R607H
Missense
SNP
0.500
2-ND
WDR7-
-
-
-
1LossND
WDR70p.S84F
Missense
SNP
0.748
4GainND
WDR78p.P662S
Missense
SNP
0.445
2-ND
WDR82-
-
-
-
1LossND
WDR87p.V1240A
Missense
SNP
0.384
2-ND
WDR97-
-
-
-
3GainND
WDYHV1-
-
-
-
3GainND
WFDC3p.D185Y
Missense
SNP
0.368
2-ND
WIPF2p.H403Y
Missense
SNP
0.468
2-ND
WISP1-
-
-
-
3GainND
WNK1p.S2590N
Missense
SNP
0.510
2-ND
WNK2p.G1103E
Missense
SNP
0.393
2-ND
WNT3p.P281L
Missense
SNP
0.441
2-ND
WNT5A-
-
-
-
1LossND
WNT7A-
-
-
-
1LossND
WRBp.P127S
Missense
SNP
0.978
2-ND
WRN-
-
-
-
1LossND
WWC3p.T947Pfs*37
Frame_Shift_Del
DEL
0.974
NDNDND
WWP1-
-
-
-
3GainND
XCR1p.I256M
Missense
SNP
1.000
1LossND
XDHp.G589N
Missense
MNP
0.468
2-ND
XIRP1-
-
-
-
1LossND
XIRP2p.Q342*
p.I2150N
p.P2421L
Nonsense
Missense
Missense
SNP
SNP
SNP
0.529
0.520
0.441
2-ND
XKR4-
-
-
-
3GainND
XKR5-
-
-
-
1LossND
XKR6-
-
-
-
1LossND
XKR9-
-
-
-
3GainND
XPC-
-
-
-
1LossND
XPO4p.F68Y
Missense
SNP
0.263
2-ND
XPO5p.K704T
Missense
SNP
0.714
2-ND
XPO7-
-
-
-
1LossND
XRRA1p.S558F
Missense
SNP
0.516
2-ND
XXYLT1p.E283Rfs*10
Frame_Shift_Del
DEL
0.496
2-ND
XYLB-
-
-
-
1LossND
XYLT2p.G529Afs*78
Frame_Shift_Del
DEL
0.479
2-ND
YEATS2p.L863*
p.P778S
Frame_Shift_Del
Missense
DEL
SNP
0.419
0.442
2-ND
YTHDF3-
-
-
-
3GainND
YWHAZ-
-
-
-
3GainND
Z84492.1-
-
-
-
1LossND
ZADH2-
-
-
-
1LossND
ZAR1Lp.W34*
Nonsense
MNP
0.298
3GainND
ZBTB10-
-
-
-
3GainND
ZBTB16-
-
-
-
1LossND
ZBTB18p.T296I
Missense
SNP
0.432
2-ND
ZBTB20p.P692Lfs*43
Frame_Shift_Del
DEL
0.459
2-ND
ZBTB4p.V300M
Missense
SNP
0.473
2-ND
ZBTB40p.E1126K
Missense
SNP
0.519
2-ND
ZBTB44-
-
-
-
1LossND
ZBTB47-
-
-
-
1LossND
ZBTB5-
-
-
-
1LossND
ZBTB7C-
-
-
-
1LossND
ZC2HC1A-
-
-
-
3GainND
ZC3H12Bp.P192S
Missense
SNP
1.000
NDNDND
ZC3H12C-
-
-
-
1LossND
ZC3H13-
-
-
-
3GainND
ZC3H18p.R704Qfs*14
p.H126Y
Frame_Shift_Ins
Missense
INS
SNP
0.268
0.482
2-ND
ZC3H3-
-
-
-
3GainND
ZCCHC2-
-
-
-
1LossND
ZCCHC24p.R194Afs*?
Frame_Shift_Del
DEL
0.467
2-ND
ZCCHC5p.E175K
Missense
SNP
1.000
NDNDND
ZCCHC7-
-
-
-
1LossND
ZCWPW2-
-
-
-
1LossND
ZDBF2p.K1728Nfs*5
Frame_Shift_Del
DEL
0.485
2-ND
ZDHHC11B-
-
-
-
3GainND
ZDHHC2-
-
-
-
1LossND
ZDHHC20-
-
-
-
3GainND
ZDHHC21-
-
-
-
1LossND
ZDHHC3-
-
-
-
1LossND
ZFAND1p.L223S
Missense
SNP
0.291
3GainND
ZFAND2Bp.G138R
Missense
SNP
0.492
2-ND
ZFAT-
-
-
-
3GainND
ZFHX4-
-
-
-
3GainND
ZFP41-
-
-
-
3GainND
ZFP82p.E398K
Missense
SNP
0.497
2-ND
ZFPM2-
-
-
-
3GainND
ZFR-
-
-
-
4GainND
ZFR2p.A888V
Missense
SNP
0.446
2-ND
ZFYVE16p.K148Nfs*14
Frame_Shift_Del
DEL
0.482
2-ND
ZHX1p.K870E
Missense
SNP
0.370
3GainND
ZHX1-C8orf76-
-
-
-
3GainND
ZHX2p.V433M
Missense
SNP
0.603
3GainND
ZHX3p.P935L
Missense
SNP
0.513
2-ND
ZIC2-
-
-
-
3GainND
ZIC5-
-
-
-
3GainND
ZKSCAN5p.H661N
Missense
SNP
0.512
2-ND
ZKSCAN7-
-
-
-
1LossND
ZMAT4-
-
-
-
1LossND
ZMYND10-
-
-
-
1LossND
ZMYND11-
-
-
-
3GainND
ZMYND8p.D1094N
Missense
SNP
0.459
2-ND
ZNF106p.S1583F
p.H499Y
Missense
Missense
SNP
SNP
0.457
0.497
2-ND
ZNF112p.Y749H
Missense
SNP
0.505
2-ND
ZNF114p.D166N
Missense
SNP
0.490
2-ND
ZNF131-
-
-
-
4GainND
ZNF16-
-
-
-
3GainND
ZNF180p.I66L
Missense
SNP
0.564
2-ND
ZNF197-
-
-
-
1LossND
ZNF20p.R271C
Missense
SNP
0.512
2-ND
ZNF202-
-
-
-
1LossND
ZNF219p.P567L
Missense
SNP
0.485
2-ND
ZNF224p.N261D
Missense
SNP
0.490
2-ND
ZNF233p.R19M
Missense
SNP
0.479
2-ND
ZNF236-
-
-
-
1LossND
ZNF24-
-
-
-
1LossND
ZNF250-
-
-
-
3GainND
ZNF251-
-
-
-
3GainND
ZNF253p.F209V
Missense
SNP
0.458
2-ND
ZNF256p.S555F
Missense
SNP
0.512
2-ND
ZNF260p.H270Y
Missense
SNP
0.549
2-ND
ZNF263p.R454H
Missense
SNP
0.444
2-ND
ZNF273p.L473F
Missense
SNP
0.557
2-ND
ZNF274p.P283S
Missense
SNP
0.375
2-ND
ZNF317p.S515P
Missense
SNP
0.523
2-ND
ZNF33Bp.K775N
Missense
SNP
0.449
2-ND
ZNF34-
-
-
-
3GainND
ZNF341p.P160Hfs*7
Frame_Shift_Del
DEL
0.414
2-ND
ZNF345p.S440G
Missense
SNP
0.500
2-ND
ZNF35-
-
-
-
1LossND
ZNF384p.R395W
Missense
SNP
0.470
2-ND
ZNF385D-
-
-
-
1LossND
ZNF395-
-
-
-
1LossND
ZNF396-
-
-
-
1LossND
ZNF397-
-
-
-
1LossND
ZNF407-
-
-
-
1LossND
ZNF445-
-
-
-
1LossND
ZNF454p.E154G
Missense
SNP
0.388
2-ND
ZNF469p.R3417Gfs*56
Frame_Shift_Del
DEL
0.448
2-ND
ZNF488p.E315K
Missense
SNP
0.431
2-ND
ZNF490p.K99Nfs*18
Frame_Shift_Del
DEL
0.357
2-ND
ZNF501-
-
-
-
1LossND
ZNF502-
-
-
-
1LossND
ZNF513p.R377Q
Missense
SNP
0.459
2-ND
ZNF516-
-
-
-
1LossND
ZNF517p.P488L
Missense
SNP
0.632
3GainND
ZNF518Ap.N617K
Missense
SNP
0.549
2-ND
ZNF521-
-
-
-
1LossND
ZNF528p.F530L
Missense
SNP
0.620
2-ND
ZNF532-
-
-
-
1LossND
ZNF546p.R707*
Nonsense
SNP
0.558
2-ND
ZNF549p.P84H
Missense
SNP
0.553
2-ND
ZNF559p.H243Y
Missense
SNP
0.490
2-ND
ZNF572-
-
-
-
3GainND
ZNF573p.E86K
Missense
SNP
0.452
2-ND
ZNF574p.R841C
Missense
SNP
0.502
2-ND
ZNF582p.P493L
Missense
SNP
0.433
2-ND
ZNF585Bp.A3V
Missense
SNP
0.474
2-ND
ZNF587Bp.P269S
Missense
SNP
0.471
2-ND
ZNF589-
-
-
-
1LossND
ZNF596-
-
-
-
1LossND
ZNF598p.P695L
Missense
SNP
0.577
2-ND
ZNF608p.G639E
Missense
SNP
0.481
2-ND
ZNF610p.G22E
Missense
SNP
0.453
2-ND
ZNF611p.V464A
Missense
SNP
0.570
2-ND
ZNF619-
-
-
-
1LossND
ZNF620-
-
-
-
1LossND
ZNF621-
-
-
-
1LossND
ZNF622-
-
-
-
4GainND
ZNF623-
-
-
-
3GainND
ZNF629p.E203*
Nonsense
SNP
0.446
2-ND
ZNF658-
-
-
-
1LossND
ZNF660-
-
-
-
1LossND
ZNF662-
-
-
-
1LossND
ZNF665p.H136Y
Missense
SNP
0.475
2-ND
ZNF667p.L542F
p.R121Q
Missense
Missense
SNP
SNP
0.476
0.500
2-ND
ZNF671p.H473Y
Missense
SNP
0.493
2-ND
ZNF683p.I382T
Missense
SNP
0.485
2-ND
ZNF695p.N155S
Missense
SNP
0.505
2-ND
ZNF696-
-
-
-
3GainND
ZNF697p.R337C
Missense
SNP
0.441
2-ND
ZNF7-
-
-
-
3GainND
ZNF703-
-
-
-
1LossND
ZNF704-
-
-
-
3GainND
ZNF706-
-
-
-
3GainND
ZNF707-
-
-
-
3GainND
ZNF717-
-
-
-
1LossND
ZNF728p.G169E
Missense
SNP
0.436
2-ND
ZNF746p.R583P
Missense
SNP
0.504
2-ND
ZNF765p.R366Q
Missense
SNP
0.448
2-ND
ZNF766p.H429Y
Missense
SNP
0.497
2-ND
ZNF777p.A362V
Missense
SNP
0.514
2-ND
ZNF778p.R413*
Nonsense
SNP
0.467
2-ND
ZNF79p.L460F
Missense
SNP
1.000
2-ND
ZNF804Ap.D304Rfs*18
p.S454F
Frame_Shift_Ins
Missense
INS
SNP
0.318
0.419
2-ND
ZNF837p.R439H
Missense
SNP
0.535
2-ND
ZNF852-
-
-
-
1LossND
ZNF853p.E136K
Missense
SNP
0.537
2-ND
ZNF860-
-
-
-
1LossND
ZNF878p.L410F
Missense
SNP
0.442
2-ND
ZNF90p.P62S
p.S549A
Missense
Missense
SNP
SNP
0.461
0.472
2-ND
ZNF93p.R116K
Missense
SNP
0.445
2-ND
ZPBP2p.R246W
Missense
SNP
0.482
2-ND
ZPR1-
-
-
-
1LossND
ZRANB3p.K322N
Missense
SNP
0.494
2-ND
ZSCAN18p.S405L
Missense
SNP
0.386
2-ND
ZSCAN30-
-
-
-
1LossND
ZSCAN31p.E49K
Missense
SNP
0.490
2-ND
ZSCAN32p.X123_splice
Splice_Site
SNP
0.500
2-ND
ZSWIM6p.E613Rfs*5
p.S1081F
Frame_Shift_Ins
Missense
INS
SNP
0.273
0.500
2-ND
ZW10-
-
-
-
1LossND
ZXDAp.V757I
Missense
SNP
1.000
NDNDND