PDMR-558786~286-R~FI8D05D58-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF-
-
-
-
3GainND
ABCA4p.A1695T
Missense
SNP
0.316
2-ND
ABCB4p.S339Qfs*3
Frame_Shift_Del
DEL
0.633
2-ND
ABCB6p.G318Vfs*9
p.R634C
Frame_Shift_Del
Missense
DEL
SNP
0.457
0.210
2-ND
ABCB8p.A704T
Missense
SNP
0.141
2-ND
ABCC10p.Q369*
Nonsense
SNP
0.439
2-ND
ABCC2-
-
-
-
3GainND
ABCC4p.I1219Sfs*11
Frame_Shift_Del
DEL
0.228
2-ND
ABCG2-
-
-
-
1LossND
ABCG8p.T401M
Missense
SNP
0.556
2-ND
ABHD17Bp.A245T
Missense
SNP
0.157
2-ND
ABHD3-
-
-
-
3GainND
ABI1-
-
-
-
3GainND
ABLIM1-
-
-
-
3GainND
ABRAXAS1-
-
-
-
1LossND
ABRAXAS2-
-
-
-
3GainND
AC007998.2-
-
-
-
3GainND
AC012254.2-
-
-
-
3GainND
AC022400.6-
-
-
-
3GainND
AC067752.1-
-
-
-
3GainND
AC068896.1-
-
-
-
3GainND
AC090227.1-
-
-
-
3GainND
AC090360.1-
-
-
-
3GainND
AC091551.1-
-
-
-
3GainND
AC093827.5-
-
-
-
1LossND
AC098582.1-
-
-
-
1LossND
ACAA2-
-
-
-
3GainND
ACAD11p.R127Q
Missense
SNP
0.615
2-ND
ACADSB-
-
-
-
3GainND
ACBD5-
-
-
-
3GainND
ACBD7-
-
-
-
3GainND
ACSL5-
-
-
-
3GainND
ACSM6-
-
-
-
3GainND
ACTA2-
-
-
-
3GainND
ACTBp.P332S
Missense
SNP
0.431
2-ND
ACTR1A-
-
-
-
3GainND
ACTR2p.R354C
Missense
SNP
0.473
2-ND
ACVR2Ap.K437Rfs*5
Frame_Shift_Del
DEL
0.424
2-ND
ADAM12-
-
-
-
3GainND
ADAM20p.R103Qfs*12
Frame_Shift_Ins
INS
0.327
2-ND
ADAM21p.V339M
Missense
SNP
0.517
2-ND
ADAM8-
-
-
-
3GainND
ADAMDEC1p.K341Rfs*7
Frame_Shift_Del
DEL
0.142
2-ND
ADAMTS14-
-
-
-
3GainND
ADAMTS9p.R1350W
p.P82H
Missense
Missense
SNP
SNP
0.236
0.183
2-ND
ADARB2-
-
-
-
3GainND
ADCY5p.D192_S193del
In_Frame_Del
DEL
0.441
2-ND
ADCYAP1p.X37_splice
Splice_Site
SNP
0.204
3GainND
ADD1p.K752del
In_Frame_Del
DEL
0.234
2-ND
ADD2p.R134Q
Missense
SNP
0.463
2-ND
ADD3p.R434C
Missense
SNP
0.701
3GainND
ADGRA1-
-
-
-
3GainND
ADGRF5p.Y1113H
Missense
SNP
0.451
2-ND
ADGRL3p.V963Cfs*39
Frame_Shift_Del
DEL
0.491
2-ND
ADIRF-
-
-
-
3GainND
ADK-
-
-
-
3GainND
ADNP2-
-
-
-
3GainND
ADO-
-
-
-
3GainND
ADRA2A-
-
-
-
3GainND
ADRB1-
-
-
-
3GainND
AEBP1p.Q255Afs*21
Frame_Shift_Ins
INS
0.332
2-ND
AFAP1L2-
-
-
-
3GainND
AFF1-
-
-
-
1LossND
AFG3L2-
-
-
-
3GainND
AFMIDp.G71S
Missense
SNP
0.463
2-ND
AGAP2p.V630M
Missense
SNP
0.410
2-ND
AGAP4-
-
-
-
3GainND
AGAP5-
-
-
-
3GainND
AGAP6-
-
-
-
3GainND
AGAP9-
-
-
-
3GainND
AGLp.N1304Kfs*7
Frame_Shift_Ins
INS
0.293
2-ND
AGO1p.L17Cfs*99
Frame_Shift_Del
DEL
0.429
2-ND
AHCYL2p.R142H
Missense
SNP
0.264
2-ND
AHRRp.R401M
Missense
SNP
0.360
2-ND
AIF1p.P137H
Missense
SNP
0.544
2-ND
AIFM2-
-
-
-
3GainND
AIFM3p.V462M
Missense
SNP
0.154
2-ND
AIM1p.P734L
Missense
SNP
0.492
NDNDND
AKAIN1-
-
-
-
3GainND
AKAP9p.K39Rfs*17
p.V3673A
Frame_Shift_Del
Missense
DEL
SNP
0.512
0.476
2-ND
AKR1B1p.A209T
Missense
SNP
0.628
2-ND
AKR1C1-
-
-
-
3GainND
AKR1C2-
-
-
-
3GainND
AKR1C3-
-
-
-
3GainND
AKR1C4-
-
-
-
3GainND
AKR1C8P-
-
-
-
3GainND
AKR1E2-
-
-
-
3GainND
AL117339.5-
-
-
-
3GainND
AL133352.1-
-
-
-
3GainND
AL133353.2-
-
-
-
3GainND
AL157392.5-
-
-
-
3GainND
AL355315.1-
-
-
-
3GainND
AL356053.1p.I188*
Frame_Shift_Del
DEL
0.269
NDNDND
AL360181.3-
-
-
-
3GainND
AL365273.2-
-
-
-
3GainND
AL583836.1-
-
-
-
3GainND
ALDH18A1-
-
-
-
3GainND
ALDH1A2p.R85C
Missense
SNP
0.527
2-ND
ALDH3B2p.L213M
Missense
SNP
0.450
2-ND
ALDOCp.R22Q
Missense
SNP
0.404
2-ND
ALKBH4p.C267Y
Missense
SNP
0.577
2-ND
ALOX5-
-
-
-
3GainND
ALPK2-
-
-
-
3GainND
ALS2CR11p.N837Ifs*9
p.K729Nfs*4
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.511
0.202
NDNDND
AMFRp.R580H
Missense
SNP
0.329
2-ND
AMTp.L155I
Missense
SNP
0.439
2-ND
ANAPC16-
-
-
-
3GainND
ANGPT2p.I234*
Frame_Shift_Del
DEL
0.355
2-ND
ANK2p.A1819V
Missense
SNP
0.485
2-ND
ANK3-
-
-
-
3GainND
ANKFN1p.R763K
Missense
SNP
0.515
2-ND
ANKRD1-
-
-
-
3GainND
ANKRD11p.A2265Pfs*72
Frame_Shift_Del
DEL
0.568
2-ND
ANKRD12-
-
-
-
3GainND
ANKRD16-
-
-
-
3GainND
ANKRD2-
-
-
-
3GainND
ANKRD22-
-
-
-
3GainND
ANKRD26-
-
-
-
3GainND
ANKRD27p.H464Y
Missense
SNP
0.521
2-ND
ANKRD29-
-
-
-
3GainND
ANKRD30A-
-
-
-
3GainND
ANKRD30B-
-
-
-
3GainND
ANKRD31p.G512Vfs*20
Frame_Shift_Del
DEL
0.575
2-ND
ANKRD62-
-
-
-
3GainND
ANKS1Ap.T961M
Missense
SNP
0.165
2-ND
ANKS3p.R550H
Missense
SNP
0.375
2-ND
ANO4p.A294V
Missense
SNP
0.175
2-ND
ANO6p.V698I
Missense
SNP
0.440
2-ND
ANTXR2-
-
-
-
1LossND
ANTXRL-
-
-
-
3GainND
ANXA11-
-
-
-
3GainND
ANXA3-
-
-
-
1LossND
ANXA7-
-
-
-
3GainND
ANXA8-
-
-
-
3GainND
ANXA8L1-
-
-
-
3GainND
AOC1p.R190Gfs*18
Frame_Shift_Del
DEL
0.425
2-ND
AP1G1p.R8W
Missense
SNP
0.455
2-ND
AP2A2p.P670Lfs*67
p.A376T
Frame_Shift_Del
Missense
DEL
SNP
0.286
0.528
2-ND
AP3M1-
-
-
-
3GainND
APBB1IP-
-
-
-
3GainND
APCp.E902K
p.P1604L
Missense
Missense
SNP
SNP
0.521
0.526
2-ND
APCDD1-
-
-
-
3GainND
APOBRp.G267C
Missense
SNP
0.473
2-ND
APOL2p.R87Q
Missense
SNP
0.473
2-ND
AQP2p.T125M
Missense
SNP
0.600
2-ND
AQP4-
-
-
-
3GainND
ARAP2p.A469T
p.G250*
Missense
Nonsense
SNP
SNP
0.542
0.549
2-ND
AREG-
-
-
-
1LossND
ARGLU1p.R45H
p.A186T
Missense
Missense
SNP
SNP
0.448
0.511
2-ND
ARHGAP12-
-
-
-
3GainND
ARHGAP19-
-
-
-
3GainND
ARHGAP19-SLIT1-
-
-
-
3GainND
ARHGAP21-
-
-
-
3GainND
ARHGAP22-
-
-
-
3GainND
ARHGAP24-
-
-
-
1LossND
ARHGAP28-
-
-
-
3GainND
ARHGAP39p.V443I
Missense
SNP
0.370
2-ND
ARHGAP6p.G745R
p.R433Q
Missense
Missense
SNP
SNP
0.484
0.400
NDNDND
ARHGEF1p.D382N
Missense
SNP
0.419
2-ND
ARHGEF10Lp.T495M
Missense
SNP
0.514
2-ND
ARHGEF40p.R1076Gfs*18
Frame_Shift_Del
DEL
0.371
2-ND
ARID1Ap.P1175Hfs*5
p.D1850Gfs*4
p.X751_splice
Frame_Shift_Del
Frame_Shift_Ins
Splice_Site
DEL
INS
SNP
0.470
0.332
0.446
2-ND
ARID1Bp.Q1810*
Nonsense
SNP
0.509
2-ND
ARID3Ap.X499_splice
Splice_Site
SNP
0.446
2-ND
ARID4Bp.Q1041*
Nonsense
SNP
0.496
2-ND
ARID5B-
-
-
-
3GainND
ARL2p.R78Q
Missense
SNP
0.497
2-ND
ARL3-
-
-
-
3GainND
ARL5B-
-
-
-
3GainND
ARMC3-
-
-
-
3GainND
ARMC4-
-
-
-
3GainND
ARMC9p.G2R
Missense
SNP
0.193
2-ND
ARMH3-
-
-
-
3GainND
ARMS2-
-
-
-
3GainND
ART3-
-
-
-
1LossND
AS3MT-
-
-
-
3GainND
ASAH2-
-
-
-
3GainND
ASAH2B-
-
-
-
3GainND
ASB11p.L32Ffs*14
Frame_Shift_Ins
INS
0.283
NDNDND
ASB13-
-
-
-
3GainND
ASCC1-
-
-
-
3GainND
ASH1Lp.I1341N
Missense
SNP
0.468
2-ND
ASXL2p.V912I
Missense
SNP
0.189
2-ND
ASXL3-
-
-
-
3GainND
ATAD1-
-
-
-
3GainND
ATE1-
-
-
-
3GainND
ATOH7-
-
-
-
3GainND
ATP10Ap.T1205Pfs*4
Frame_Shift_Del
DEL
0.222
2-ND
ATP5F1A-
-
-
-
3GainND
ATP5F1C-
-
-
-
3GainND
ATP5MD-
-
-
-
3GainND
ATP6V1Dp.R30Q
Missense
SNP
0.423
2-ND
ATP8A1p.R725H
Missense
SNP
0.480
2-ND
ATP8A2p.V506M
Missense
SNP
0.539
2-ND
ATP8B1-
-
-
-
3GainND
ATP9B-
-
-
-
3GainND
ATRNL1-
-
-
-
3GainND
AVILp.G118Vfs*6
p.T480M
Frame_Shift_Del
Missense
DEL
SNP
0.486
0.542
2-ND
AVL9p.G397A
Missense
SNP
0.400
2-ND
AVPI1-
-
-
-
3GainND
B3GNT6p.G221D
Missense
SNP
0.528
2-ND
B4GALNT4p.T982M
Missense
SNP
0.512
2-ND
B4GALT6-
-
-
-
3GainND
BAG3p.R170W
Missense
SNP
0.170
3GainND
BAHCC1p.G1603R
Missense
SNP
0.521
2-ND
BAIAP2L2p.V396M
Missense
SNP
0.509
2-ND
BAIAP3p.R785W
Missense
SNP
0.144
2-ND
BAMBI-
-
-
-
3GainND
BANPp.A232T
Missense
SNP
0.618
2-ND
BBIP1-
-
-
-
3GainND
BBOX1p.V74Gfs*8
Frame_Shift_Ins
INS
0.101
2-ND
BCAR3p.N733Tfs*9
Frame_Shift_Del
DEL
0.058
2-ND
BCAS3p.G891Efs*76
Frame_Shift_Del
DEL
0.213
2-ND
BCCIP-
-
-
-
3GainND
BCHEp.N134Mfs*5
Frame_Shift_Del
DEL
0.699
2-ND
BCKDHAp.T211M
Missense
SNP
0.580
2-ND
BCL2-
-
-
-
3GainND
BCL9Lp.P1127Hfs*21
p.A77Gfs*14
Frame_Shift_Del
Frame_Shift_Ins
DEL
INS
0.482
0.254
2-ND
BCRp.R232W
Missense
SNP
0.450
2-ND
BEND3p.P494Rfs*46
Frame_Shift_Del
DEL
0.233
2-ND
BEND7-
-
-
-
3GainND
BICC1-
-
-
-
3GainND
BIRC7p.Q54*
Nonsense
SNP
0.465
2-ND
BLNK-
-
-
-
3GainND
BLOC1S2-
-
-
-
3GainND
BMI1-
-
-
-
3GainND
BMP1p.R721*
Nonsense
SNP
0.177
2-ND
BMP2K-
-
-
-
1LossND
BMP3-
-
-
-
1LossND
BMPR1A-
-
-
-
3GainND
BMS1-
-
-
-
3GainND
BNIP3-
-
-
-
3GainND
BOD1L1p.E2153K
Missense
SNP
0.245
2-ND
BOD1L2-
-
-
-
3GainND
BOP1-
-
-
-
1LossND
BORCS7-
-
-
-
3GainND
BORCS7-ASMT-
-
-
-
3GainND
BPIFB4p.V74Sfs*9
p.R289W
Frame_Shift_Ins
Missense
INS
SNP
0.254
0.503
2-ND
BRD4p.R444C
Missense
SNP
0.407
2-ND
BRPF1p.Q938Sfs*5
Frame_Shift_Del
DEL
0.394
2-ND
BRSK1p.R379Gfs*9
Frame_Shift_Del
DEL
0.181
2-ND
BTAF1-
-
-
-
3GainND
BTBD16-
-
-
-
3GainND
BTC-
-
-
-
1LossND
BTRC-
-
-
-
3GainND
BUB3-
-
-
-
3GainND
C10orf105-
-
-
-
3GainND
C10orf113-
-
-
-
3GainND
C10orf120-
-
-
-
3GainND
C10orf53-
-
-
-
3GainND
C10orf55-
-
-
-
3GainND
C10orf62-
-
-
-
3GainND
C10orf67-
-
-
-
3GainND
C10orf71-
-
-
-
3GainND
C10orf82-
-
-
-
3GainND
C10orf88-
-
-
-
3GainND
C10orf90-
-
-
-
3GainND
C10orf99-
-
-
-
3GainND
C15orf52p.M99Wfs*3
Frame_Shift_Del
DEL
0.235
NDNDND
C17orf74p.P442Rfs*25
Frame_Shift_Del
DEL
0.323
NDNDND
C18orf21-
-
-
-
3GainND
C18orf25-
-
-
-
3GainND
C18orf32-
-
-
-
3GainND
C18orf54-
-
-
-
3GainND
C18orf63-
-
-
-
3GainND
C18orf8p.C394Hfs*4
Frame_Shift_Del
DEL
0.515
NDNDND
C19orf70p.A73Pfs*39
Frame_Shift_Del
DEL
0.382
2-ND
C1Dp.N120Mfs*61
Frame_Shift_Del
DEL
0.519
2-ND
C1QBp.C31Y
Missense
SNP
0.418
2-ND
C1QL3p.R180H
Missense
SNP
0.285
3GainND
C21orf58p.T203M
Missense
SNP
0.465
2-ND
C2CD5p.R183H
Missense
SNP
0.160
2-ND
C4orf36-
-
-
-
1LossND
C5orf42p.Y607Tfs*6
Frame_Shift_Del
DEL
0.229
NDNDND
C6orf89p.Q61Afs*10
Frame_Shift_Ins
INS
0.156
2-ND
C9orf66p.H283Pfs*22
Frame_Shift_Ins
INS
0.146
2-ND
CABCOCO1-
-
-
-
3GainND
CABIN1p.G1834Afs*72
Frame_Shift_Del
DEL
0.167
2-ND
CABLES1-
-
-
-
3GainND
CABYR-
-
-
-
3GainND
CACNA1Ep.R1594H
Missense
SNP
0.476
2-ND
CACNA1Ip.P665L
Missense
SNP
0.438
2-ND
CACNB2p.T254M
p.R608H
Missense
Missense
SNP
SNP
0.284
0.691
3GainND
CACUL1-
-
-
-
3GainND
CADp.R2064C
Missense
SNP
0.429
2-ND
CALCRLp.F16Lfs*2
Frame_Shift_Del
DEL
0.375
2-ND
CALHM1p.R228H
Missense
SNP
0.160
3GainND
CALHM2-
-
-
-
3GainND
CALHM3-
-
-
-
3GainND
CALML3-
-
-
-
3GainND
CALML5-
-
-
-
3GainND
CALY-
-
-
-
3GainND
CAMK1D-
-
-
-
3GainND
CAMK2Bp.A558V
Missense
SNP
0.316
2-ND
CAMK2G-
-
-
-
3GainND
CAMKK1p.R510*
Nonsense
SNP
0.465
2-ND
CAMSAP2p.R1179W
Missense
SNP
0.350
2-ND
CAMTA2p.P889Lfs*9
p.P547L
Frame_Shift_Del
Missense
DEL
SNP
0.433
0.512
2-ND
CANXp.R274H
Missense
SNP
0.492
2-ND
CAPN6p.D37N
Missense
SNP
0.264
NDNDND
CARD14p.E929K
Missense
SNP
0.432
2-ND
CARSp.R453L
Missense
SNP
0.520
2-ND
CASC1p.I554M
Missense
SNP
0.311
2-ND
CASC10-
-
-
-
3GainND
CASP7-
-
-
-
3GainND
CASRp.R220W
Missense
SNP
0.130
2-ND
CASS4p.R67H
Missense
SNP
0.493
2-ND
CASZ1p.T715M
Missense
SNP
0.547
2-ND
CATIPp.A255T
Missense
SNP
0.531
2-ND
CBFA2T2p.E402D
Missense
SNP
0.466
2-ND
CBLN2-
-
-
-
3GainND
CC2D2B-
-
-
-
3GainND
CCAR1p.Q596*
Nonsense
SNP
0.333
3GainND
CCBE1p.V92I
Missense
SNP
0.263
3GainND
CCDC102Bp.I270Nfs*31
Frame_Shift_Ins
INS
0.330
3GainND
CCDC124p.R18C
Missense
SNP
0.302
2-ND
CCDC150p.S317Y
p.R971Q
Missense
Missense
SNP
SNP
0.266
0.474
2-ND
CCDC151p.R376W
Missense
SNP
0.262
2-ND
CCDC153p.P200Lfs*4
Frame_Shift_Del
DEL
0.321
2-ND
CCDC158-
-
-
-
1LossND
CCDC168p.Q3471Tfs*12
p.N2569Kfs*26
p.L5549M
Frame_Shift_Ins
Frame_Shift_Ins
Missense
INS
INS
SNP
0.305
0.281
0.262
2-ND
CCDC172-
-
-
-
3GainND
CCDC178-
-
-
-
3GainND
CCDC186-
-
-
-
3GainND
CCDC191p.E82D
Missense
SNP
0.309
2-ND
CCDC3-
-
-
-
3GainND
CCDC6-
-
-
-
3GainND
CCDC68-
-
-
-
3GainND
CCDC7-
-
-
-
3GainND
CCDC74B-
-
-
-
1LossND
CCDC83p.I184T
Missense
SNP
0.242
2-ND
CCDC96p.R524H
Missense
SNP
0.534
2-ND
CCER2p.E232del
In_Frame_Del
DEL
0.407
2-ND
CCNG2-
-
-
-
1LossND
CCNI-
-
-
-
1LossND
CCNJ-
-
-
-
3GainND
CCNY-
-
-
-
3GainND
CCR7p.A238V
Missense
SNP
0.264
2-ND
CCSER1p.F428Lfs*29
Frame_Shift_Del
DEL
0.222
1LossND
CCSER2-
-
-
-
3GainND
CCT2p.R376C
Missense
SNP
0.532
2-ND
CD163L1p.P890L
Missense
SNP
0.484
2-ND
CD19p.X120_splice
Splice_Site
DEL
0.556
2-ND
CD226-
-
-
-
3GainND
CD55p.T363M
Missense
SNP
0.298
2-ND
CD79Ap.R131Gfs*61
Frame_Shift_Del
DEL
0.446
2-ND
CDC123-
-
-
-
3GainND
CDC42EP4p.V144M
Missense
SNP
0.459
2-ND
CDH10p.E641Sfs*3
Frame_Shift_Del
DEL
0.135
2-ND
CDH17p.S645Lfs*3
Frame_Shift_Del
DEL
0.349
2-ND
CDH19-
-
-
-
3GainND
CDH2-
-
-
-
3GainND
CDH20-
-
-
-
3GainND
CDH23-
-
-
-
3GainND
CDH7p.R264Q
p.G393E
Missense
Missense
SNP
SNP
0.656
0.120
3GainND
CDHR1-
-
-
-
3GainND
CDK1-
-
-
-
3GainND
CDK19p.S62L
Missense
SNP
0.385
2-ND
CDKL2-
-
-
-
1LossND
CDKN2Bp.L93Pfs*70
Frame_Shift_Ins
INS
0.253
2-ND
CDNF-
-
-
-
3GainND
CDS1-
-
-
-
1LossND
CDSNp.F163S
Missense
SNP
0.263
2-ND
CELp.P727Lfs*34
Frame_Shift_Del
DEL
0.132
2-ND
CELF2-
-
-
-
3GainND
CELF3p.V279I
Missense
SNP
0.540
2-ND
CELF4-
-
-
-
3GainND
CELSR2p.A1152V
Missense
SNP
0.232
2-ND
CELSR3p.R1336H
Missense
SNP
0.385
2-ND
CEP192p.R763C
Missense
SNP
0.292
3GainND
CEP250p.V728I
Missense
SNP
0.529
2-ND
CEP55-
-
-
-
3GainND
CEP76-
-
-
-
3GainND
CEP85p.T746I
Missense
SNP
0.556
2-ND
CETN1-
-
-
-
3GainND
CFAP299-
-
-
-
1LossND
CFAP43-
-
-
-
3GainND
CFAP45p.R403H
Missense
SNP
0.467
2-ND
CFAP46-
-
-
-
3GainND
CFAP53p.F148L
Missense
SNP
0.486
3GainND
CFAP58-
-
-
-
3GainND
CFAP70-
-
-
-
3GainND
CFTRp.G1047D
Missense
SNP
0.169
2-ND
CH25H-
-
-
-
3GainND
CH507-42P11.8p.R587Q
Missense
SNP
0.340
NDNDND
CHAT-
-
-
-
3GainND
CHCHD1-
-
-
-
3GainND
CHD7p.T1133M
Missense
SNP
0.577
2-ND
CHIAp.Q62*
Nonsense
SNP
0.461
2-ND
CHMP1B-
-
-
-
3GainND
CHMP2Ap.C173G
Missense
SNP
0.394
2-ND
CHRM3p.A495V
Missense
SNP
0.319
2-ND
CHRNA6p.R363S
p.Y220C
Missense
Missense
SNP
SNP
0.234
0.450
2-ND
CHRNDp.R244H
Missense
SNP
0.476
2-ND
CHST15-
-
-
-
3GainND
CHST3-
-
-
-
3GainND
CHST5p.A150V
Missense
SNP
0.475
2-ND
CHST8p.R179H
Missense
SNP
0.303
2-ND
CHST9-
-
-
-
3GainND
CHSY3p.T772Dfs*18
Frame_Shift_Ins
INS
0.122
2-ND
CHUK-
-
-
-
3GainND
CIDEA-
-
-
-
3GainND
CILP2p.R336*
Nonsense
SNP
0.463
2-ND
CISD1-
-
-
-
3GainND
CLCN4p.A160V
Missense
SNP
0.211
NDNDND
CLDN6p.A102T
Missense
SNP
0.487
2-ND
CLHC1p.G101C
Missense
SNP
0.204
2-ND
CLINT1p.Y293H
Missense
SNP
0.245
2-ND
CLOCKp.L123*
Frame_Shift_Del
DEL
0.345
2-ND
CLP1p.R302H
Missense
SNP
0.580
2-ND
CLRN3-
-
-
-
3GainND
CLSTN3p.A640T
Missense
SNP
0.185
2-ND
CLUL1-
-
-
-
3GainND
CNDP1-
-
-
-
3GainND
CNDP2-
-
-
-
3GainND
CNGA4p.G96D
Missense
SNP
0.178
2-ND
CNNM1-
-
-
-
3GainND
CNNM2-
-
-
-
3GainND
CNOT1p.R1929*
Nonsense
SNP
0.477
2-ND
CNOT10p.X754_splice
Splice_Site
SNP
0.490
2-ND
CNOT6L-
-
-
-
1LossND
COG3p.V465I
Missense
SNP
0.552
2-ND
COL11A1p.P546Lfs*87
p.V1658I
Frame_Shift_Del
Missense
DEL
SNP
0.188
0.430
2-ND
COL13A1-
-
-
-
3GainND
COL14A1p.R846H
Missense
SNP
0.279
2-ND
COL17A1p.R177Q
Missense
SNP
0.273
3GainND
COL18A1p.R67Gfs*49
p.P772Qfs*16
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.238
0.481
2-ND
COL1A2p.P701S
Missense
SNP
0.200
2-ND
COL21A1p.G632Rfs*24
Frame_Shift_Ins
INS
0.315
2-ND
COL22A1p.P727L
Missense
SNP
0.576
2-ND
COL3A1p.K275Rfs*9
Frame_Shift_Del
DEL
0.370
2-ND
COL6A2p.R734C
Missense
SNP
0.433
2-ND
COL6A3p.V1771Sfs*8
Frame_Shift_Del
DEL
0.192
2-ND
COL6A6p.E1487G
Missense
SNP
0.344
2-ND
COL8A2p.P94Lfs*143
Frame_Shift_Del
DEL
0.373
2-ND
COLEC12-
-
-
-
3GainND
COMMD3-
-
-
-
3GainND
COMMD3-BMI1-
-
-
-
3GainND
COMPp.P416L
Missense
SNP
0.378
2-ND
COMTD1-
-
-
-
3GainND
COPS4-
-
-
-
1LossND
COPS8p.A117T
Missense
SNP
0.302
2-ND
COQ2-
-
-
-
1LossND
COQ6p.P373L
Missense
SNP
0.547
2-ND
CORO7p.S433I
Missense
SNP
0.500
2-ND
COX15-
-
-
-
3GainND
CPA6p.L310I
Missense
SNP
0.287
2-ND
CPAMD8p.V1068Wfs*111
Frame_Shift_Del
DEL
0.436
2-ND
CPEB3p.P63Rfs*19
Frame_Shift_Del
DEL
0.087
3GainND
CPLX4-
-
-
-
3GainND
CPM-
-
-
-
3GainND
CPN1-
-
-
-
3GainND
CPNE8p.V396Sfs*9
Frame_Shift_Del
DEL
0.460
2-ND
CPS1p.K133N
Missense
SNP
0.493
2-ND
CPSF3p.E31K
Missense
SNP
0.607
2-ND
CPSF4p.R238W
Missense
SNP
0.504
2-ND
CPSF6p.V156Cfs*6
Frame_Shift_Ins
INS
0.316
2-ND
CPXM2-
-
-
-
3GainND
CRAMP1p.R344H
Missense
SNP
0.258
2-ND
CREBBPp.S1680del
p.G101V
In_Frame_Del
Missense
DEL
SNP
0.339
0.243
2-ND
CREM-
-
-
-
3GainND
CRTAC1-
-
-
-
3GainND
CRY2p.R362H
Missense
SNP
0.490
2-ND
CSGALNACT2-
-
-
-
3GainND
CSNK1Ep.T235M
Missense
SNP
0.532
2-ND
CSPG5p.R365W
Missense
SNP
0.238
2-ND
CSRNP1p.G476D
Missense
SNP
0.600
2-ND
CSRP3p.R100H
Missense
SNP
0.173
2-ND
CST2p.R46H
Missense
SNP
0.564
2-ND
CSTF2T-
-
-
-
3GainND
CSTF3p.M205*
Frame_Shift_Del
DEL
0.109
2-ND
CTAGE1-
-
-
-
3GainND
CTBP2p.R759Q
p.A602T
Missense
Missense
SNP
SNP
0.101
0.379
3GainND
CTDP1-
-
-
-
3GainND
CTIF-
-
-
-
3GainND
CTNNA3-
-
-
-
3GainND
CTNND1p.R274H
Missense
SNP
0.192
2-ND
CTNND2p.P524L
Missense
SNP
0.481
2-ND
CTSFp.V474M
Missense
SNP
0.609
2-ND
CUBNp.R3117H
Missense
SNP
0.144
3GainND
CUEDC2-
-
-
-
3GainND
CUL2-
-
-
-
3GainND
CUL3p.R128H
Missense
SNP
0.492
2-ND
CUTC-
-
-
-
3GainND
CUZD1-
-
-
-
3GainND
CWC27p.V335*
Frame_Shift_Del
DEL
0.516
2-ND
CWF19L1-
-
-
-
3GainND
CXCL1-
-
-
-
1LossND
CXCL10-
-
-
-
1LossND
CXCL11-
-
-
-
1LossND
CXCL12-
-
-
-
3GainND
CXCL13-
-
-
-
1LossND
CXCL2-
-
-
-
1LossND
CXCL3-
-
-
-
1LossND
CXCL5-
-
-
-
1LossND
CXCL9-
-
-
-
1LossND
CXorf56p.A62V
Missense
SNP
0.495
NDNDND
CXXC1-
-
-
-
3GainND
CYB5A-
-
-
-
3GainND
CYP17A1-
-
-
-
3GainND
CYP26A1-
-
-
-
3GainND
CYP26C1-
-
-
-
3GainND
CYP2C18-
-
-
-
3GainND
CYP2C19-
-
-
-
3GainND
CYP2C8-
-
-
-
3GainND
CYP2C9-
-
-
-
3GainND
CYP2E1-
-
-
-
3GainND
CYP4F8p.L385P
Missense
SNP
0.162
2-ND
CYP7B1p.N131Ifs*4
Frame_Shift_Del
DEL
0.152
2-ND
DBF4p.L409Afs*14
Frame_Shift_Ins
INS
0.301
2-ND
DCC-
-
-
-
3GainND
DCHS1p.R2892Q
p.G2097D
Missense
Missense
SNP
SNP
0.500
0.151
2-ND
DCHS2p.S968R
Missense
SNP
0.478
2-ND
DCLRE1A-
-
-
-
3GainND
DCLRE1C-
-
-
-
3GainND
DCNp.T151Nfs*9
Frame_Shift_Ins
INS
0.328
2-ND
DDAH2p.V201M
Missense
SNP
0.185
2-ND
DDIT4-
-
-
-
3GainND
DDX17p.R439H
Missense
SNP
0.397
2-ND
DDX21-
-
-
-
3GainND
DDX50-
-
-
-
3GainND
DDX52p.E518A
Missense
SNP
0.352
2-ND
DDX59p.N577Ifs*6
Frame_Shift_Del
DEL
0.521
2-ND
DDX60Lp.Y1625H
Missense
SNP
0.500
2-ND
DEPP1-
-
-
-
3GainND
DET1p.R218H
Missense
SNP
0.257
2-ND
DGKHp.R273H
Missense
SNP
0.533
2-ND
DGKIp.R791H
Missense
SNP
0.431
2-ND
DHRS12p.H120Y
Missense
SNP
0.432
2-ND
DHRS7Cp.R264H
Missense
SNP
0.288
2-ND
DHTKD1-
-
-
-
3GainND
DHX32-
-
-
-
3GainND
DIP2C-
-
-
-
3GainND
DKK1-
-
-
-
3GainND
DLG5-
-
-
-
3GainND
DLGAP1-
-
-
-
3GainND
DLK1p.P160Lfs*50
Frame_Shift_Del
DEL
0.261
2-ND
DMBT1-
-
-
-
3GainND
DMDp.N3378Tfs*24
Frame_Shift_Del
DEL
0.425
NDNDND
DMP1-
-
-
-
1LossND
DMRT2p.R212H
Missense
SNP
0.273
2-ND
DNA2-
-
-
-
3GainND
DNAH5p.A244T
Missense
SNP
0.488
2-ND
DNAJB12-
-
-
-
3GainND
DNAJC1-
-
-
-
3GainND
DNAJC11p.R273*
Nonsense
SNP
0.539
2-ND
DNAJC12-
-
-
-
3GainND
DNAJC9-
-
-
-
3GainND
DNMBP-
-
-
-
3GainND
DNMT3Ap.T835M
Missense
SNP
0.147
2-ND
DNMT3Bp.R538H
Missense
SNP
0.538
2-ND
DNTT-
-
-
-
3GainND
DOC2Ap.K312del
In_Frame_Del
DEL
0.546
2-ND
DOCK1-
-
-
-
3GainND
DOCK11p.Y2012*
Nonsense
SNP
0.541
NDNDND
DOCK7p.P526L
Missense
SNP
0.447
2-ND
DOCK8p.P706S
Missense
SNP
0.149
2-ND
DOK1p.V175M
Missense
SNP
0.453
2-ND
DOK6-
-
-
-
3GainND
DONSONp.R27Q
Missense
SNP
0.435
2-ND
DPCD-
-
-
-
3GainND
DPRXp.V95Sfs*7
Frame_Shift_Del
DEL
0.472
2-ND
DPYSL2p.F20Lfs*104
p.R481H
Frame_Shift_Del
Missense
DEL
SNP
0.536
0.604
2-ND
DPYSL4-
-
-
-
3GainND
DRGX-
-
-
-
3GainND
DRICH1p.E198D
Missense
SNP
0.163
2-ND
DROSHAp.R254H
Missense
SNP
0.521
2-ND
DSC1p.A574T
Missense
SNP
0.133
3GainND
DSC2-
-
-
-
3GainND
DSC3-
-
-
-
3GainND
DSEL-
-
-
-
3GainND
DSG1-
-
-
-
3GainND
DSG2-
-
-
-
3GainND
DSG3-
-
-
-
3GainND
DSG4-
-
-
-
3GainND
DSPp.R866C
p.R1915C
Missense
Missense
SNP
SNP
0.494
0.441
2-ND
DSPP-
-
-
-
1LossND
DSTYKp.L732del
In_Frame_Del
DEL
0.455
2-ND
DTNAp.A498Qfs*40
Frame_Shift_Del
DEL
0.542
3GainND
DTX4p.G510Afs*35
Frame_Shift_Del
DEL
0.457
2-ND
DUPD1-
-
-
-
3GainND
DUS3Lp.V440I
Missense
SNP
0.432
2-ND
DUSP13-
-
-
-
3GainND
DUSP5-
-
-
-
3GainND
DYDC1-
-
-
-
3GainND
DYDC2-
-
-
-
3GainND
DYM-
-
-
-
3GainND
DYNAP-
-
-
-
3GainND
DYNC1H1p.R2831H
Missense
SNP
0.419
2-ND
DYRK1Ap.X317_splice
Splice_Site
DEL
0.319
2-ND
E2F7p.K59Nfs*29
Frame_Shift_Del
DEL
0.262
2-ND
EBF3-
-
-
-
3GainND
EBF4p.A553T
Missense
SNP
0.221
2-ND
EBLN1-
-
-
-
3GainND
ECD-
-
-
-
3GainND
ECHDC3-
-
-
-
3GainND
ECHS1-
-
-
-
3GainND
ECI1p.T268M
Missense
SNP
0.520
2-ND
EDEM3p.F658Lfs*4
Frame_Shift_Del
DEL
0.319
2-ND
EDRF1p.N302Mfs*47
Frame_Shift_Del
DEL
0.652
3GainND
EEF1AKMT2-
-
-
-
3GainND
EFHC2p.E202D
Missense
SNP
0.442
NDNDND
EFNB3p.Q331Rfs*39
Frame_Shift_Del
DEL
0.417
2-ND
EGR2-
-
-
-
3GainND
EHBP1L1p.R50H
Missense
SNP
0.602
2-ND
EIF3A-
-
-
-
3GainND
EIF4EBP2-
-
-
-
3GainND
EIF4G3p.V563Sfs*12
Frame_Shift_Ins
INS
0.183
2-ND
EIF5AL1-
-
-
-
3GainND
ELAC1-
-
-
-
3GainND
ELAVL2p.A333V
Missense
SNP
0.219
2-ND
ELF4p.Q341Rfs*30
Frame_Shift_Del
DEL
0.457
NDNDND
ELMO1p.G674R
Missense
SNP
0.413
2-ND
ELOA2-
-
-
-
3GainND
ELOA3-
-
-
-
3GainND
ELOA3B-
-
-
-
3GainND
ELOA3D-
-
-
-
3GainND
ELOVL3-
-
-
-
3GainND
ELOVL7p.R115C
Missense
SNP
0.298
2-ND
ELP2-
-
-
-
3GainND
EMILIN2-
-
-
-
3GainND
EML6p.A1888T
Missense
SNP
0.451
2-ND
EMX2-
-
-
-
3GainND
ENKUR-
-
-
-
3GainND
ENO4p.Y584Tfs*31
p.R551C
Frame_Shift_Del
Missense
DEL
SNP
0.099
0.285
3GainND
ENOPH1-
-
-
-
1LossND
ENOSF1-
-
-
-
3GainND
ENPP6p.R35H
Missense
SNP
0.453
2-ND
ENTPD1-
-
-
-
3GainND
ENTPD6p.G444S
Missense
SNP
0.473
2-ND
ENTPD7-
-
-
-
3GainND
EPB41L3-
-
-
-
3GainND
EPC1-
-
-
-
3GainND
EPG5-
-
-
-
3GainND
EPGN-
-
-
-
1LossND
EPHA2p.T526M
Missense
SNP
0.444
2-ND
EPHB1p.R351W
Missense
SNP
0.220
2-ND
EPPINp.Y107C
Missense
SNP
0.426
2-ND
ERBINp.D727Ifs*9
p.K988Rfs*24
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.589
0.521
2-ND
ERCC6-
-
-
-
3GainND
ERCC8p.A7T
Missense
SNP
0.568
2-ND
EREG-
-
-
-
1LossND
ERICH3p.N557I
Missense
SNP
0.458
2-ND
ERLIN1-
-
-
-
3GainND
ESCO1-
-
-
-
3GainND
ESPL1p.A35V
Missense
SNP
0.465
2-ND
ETV1p.T139Hfs*24
Frame_Shift_Ins
INS
0.225
2-ND
EVC2p.T699M
Missense
SNP
0.486
2-ND
EVI2Ap.A150V
Missense
SNP
0.507
2-ND
EXOC2p.G34D
Missense
SNP
0.268
2-ND
EXOC6-
-
-
-
3GainND
EXOSC1-
-
-
-
3GainND
EXTL1p.R31H
Missense
SNP
0.617
2-ND
EZH1p.A379V
Missense
SNP
0.446
2-ND
F13A1p.P565L
Missense
SNP
0.448
2-ND
FAAP100p.L21Pfs*12
Frame_Shift_Ins
INS
0.274
2-ND
FAM107B-
-
-
-
3GainND
FAM111Bp.R94H
Missense
SNP
0.459
2-ND
FAM118Bp.L217F
Missense
SNP
0.527
2-ND
FAM129Ap.X392_splice
Splice_Site
SNP
0.479
2-ND
FAM135Ap.S1485L
Missense
SNP
0.435
2-ND
FAM135Bp.K1101N
Missense
SNP
0.180
2-ND
FAM13A-
-
-
-
1LossND
FAM13C-
-
-
-
3GainND
FAM149B1-
-
-
-
3GainND
FAM160B1-
-
-
-
3GainND
FAM166Ap.L210R
Missense
SNP
0.414
2-ND
FAM170B-
-
-
-
3GainND
FAM171A1-
-
-
-
3GainND
FAM175Ap.N303Ifs*17
Frame_Shift_Del
DEL
0.552
NDNDND
FAM186Bp.E667K
Missense
SNP
0.600
2-ND
FAM193Ap.V231Sfs*81
Frame_Shift_Del
DEL
0.402
2-ND
FAM204A-
-
-
-
3GainND
FAM208B-
-
-
-
3GainND
FAM210A-
-
-
-
3GainND
FAM241B-
-
-
-
3GainND
FAM24A-
-
-
-
3GainND
FAM24B-
-
-
-
3GainND
FAM45A-
-
-
-
3GainND
FAM46Bp.R288W
Missense
SNP
0.476
NDNDND
FAM47Bp.A360T
Missense
SNP
0.478
NDNDND
FAM47E-
-
-
-
1LossND
FAM47E-STBD1-
-
-
-
1LossND
FAM53B-
-
-
-
3GainND
FAM69C-
-
-
-
3GainND
FAM71E2p.P40L
Missense
SNP
0.646
2-ND
FAM81Bp.G330C
Missense
SNP
0.248
2-ND
FAM98Ap.K174Nfs*2
Frame_Shift_Del
DEL
0.398
2-ND
FANK1-
-
-
-
3GainND
FAS-
-
-
-
3GainND
FAT1p.D2158Rfs*20
Frame_Shift_Ins
INS
0.306
2-ND
FAT3p.R1186H
Missense
SNP
0.211
2-ND
FAT4p.R4857S
Missense
SNP
0.273
2-ND
FBH1-
-
-
-
3GainND
FBLN2p.R1180C
Missense
SNP
0.583
2-ND
FBN2p.R1068W
Missense
SNP
0.390
2-ND
FBN3p.G1577Vfs*72
Frame_Shift_Del
DEL
0.215
2-ND
FBXL15-
-
-
-
3GainND
FBXL19p.L381Yfs*86
Frame_Shift_Del
DEL
0.500
2-ND
FBXL3p.A194T
Missense
SNP
0.229
2-ND
FBXO15-
-
-
-
3GainND
FBXW4-
-
-
-
3GainND
FECH-
-
-
-
3GainND
FER1L6p.I975T
Missense
SNP
0.351
2-ND
FFAR4-
-
-
-
3GainND
FGAp.L753F
Missense
SNP
0.259
2-ND
FGD4p.R431H
Missense
SNP
0.471
2-ND
FGF5p.G148Efs*45
Frame_Shift_Del
DEL
0.644
1LossND
FGF6p.V127M
Missense
SNP
0.524
2-ND
FGF8-
-
-
-
3GainND
FGFBP3-
-
-
-
3GainND
FGFR2p.R426Q
Missense
SNP
0.115
3GainND
FHAD1p.S26T
Missense
SNP
0.493
2-ND
FHOD3-
-
-
-
3GainND
FLG-
-
-
-
3GainND
FLG2-
-
-
-
3GainND
FLI1p.M348L
Missense
SNP
0.478
2-ND
FLIIp.A1253T
Missense
SNP
0.147
2-ND
FLNAp.A1188V
Missense
SNP
0.473
NDNDND
FLNCp.G746C
Missense
SNP
0.223
2-ND
FLOT2p.A400V
Missense
SNP
0.189
2-ND
FLT4p.P619Lfs*20
p.P30L
Frame_Shift_Del
Missense
DEL
SNP
0.464
0.548
2-ND
FO681492.1-
-
-
-
3GainND
FOXI1p.R143C
Missense
SNP
0.482
2-ND
FOXI2p.A77T
Missense
SNP
0.303
3GainND
FOXP1p.L414*
p.R36W
Frame_Shift_Del
Missense
DEL
SNP
0.578
0.181
2-ND
FPGSp.E407K
Missense
SNP
0.143
2-ND
FRA10AC1p.R232Efs*96
Frame_Shift_Del
DEL
0.191
3GainND
FRAS1-
-
-
-
1LossND
FRAT1-
-
-
-
3GainND
FRAT2-
-
-
-
3GainND
FREM1p.R507H
Missense
SNP
0.480
2-ND
FRG2B-
-
-
-
3GainND
FRMD4A-
-
-
-
3GainND
FRMPD2-
-
-
-
3GainND
FSCBp.E759K
Missense
SNP
0.284
2-ND
FSCN3p.R285C
Missense
SNP
0.227
2-ND
FSIP2p.V5823Yfs*24
Frame_Shift_Del
DEL
0.394
2-ND
FUOM-
-
-
-
3GainND
FUT11-
-
-
-
3GainND
FUT5p.R14C
Missense
SNP
0.439
2-ND
FXYD4-
-
-
-
3GainND
FZD5p.L241M
Missense
SNP
0.210
2-ND
FZD8-
-
-
-
3GainND
G3BP2-
-
-
-
1LossND
G6PC2p.R79Q
Missense
SNP
0.508
2-ND
GABRB1p.A363T
Missense
SNP
0.260
2-ND
GABRB3p.L170Pfs*11
Frame_Shift_Ins
INS
0.297
2-ND
GAD2-
-
-
-
3GainND
GALNT1-
-
-
-
3GainND
GALNT12p.R401S
Missense
SNP
0.315
2-ND
GALR1-
-
-
-
3GainND
GANABp.E567K
Missense
SNP
0.194
2-ND
GAPTp.P101L
Missense
SNP
0.527
2-ND
GAREM1-
-
-
-
3GainND
GATA3-
-
-
-
3GainND
GATA6-
-
-
-
3GainND
GATAD2Ap.A580T
Missense
SNP
0.276
2-ND
GBF1-
-
-
-
3GainND
GBGT1p.R243H
Missense
SNP
0.538
2-ND
GDAP1L1p.E199K
Missense
SNP
0.427
2-ND
GDF10-
-
-
-
3GainND
GDF2-
-
-
-
3GainND
GDF5p.R325C
Missense
SNP
0.478
2-ND
GDI2-
-
-
-
3GainND
GEMp.R56Q
Missense
SNP
0.415
2-ND
GEMIN2p.K146Nfs*24
Frame_Shift_Del
DEL
0.510
2-ND
GFRA1-
-
-
-
3GainND
GGA1p.P632Hfs*59
Frame_Shift_Del
DEL
0.210
2-ND
GGNp.A115V
Missense
SNP
0.321
2-ND
GHDCp.E205K
Missense
SNP
0.212
2-ND
GHITM-
-
-
-
3GainND
GIMAP2p.D162N
Missense
SNP
0.284
2-ND
GIMAP8p.R81H
Missense
SNP
0.390
2-ND
GIPC1p.P50Lfs*48
Frame_Shift_Del
DEL
0.375
2-ND
GJD4-
-
-
-
3GainND
GK2-
-
-
-
1LossND
GLOD4p.R50Q
Missense
SNP
0.553
2-ND
GLRX3-
-
-
-
3GainND
GLTSCR1p.E1438K
Missense
SNP
0.654
NDNDND
GLUD1-
-
-
-
3GainND
GLYCTKp.A481T
Missense
SNP
0.389
2-ND
GLYR1p.R381Afs*15
Frame_Shift_Ins
INS
0.306
2-ND
GM2Ap.R169H
Missense
SNP
0.400
2-ND
GMEB1p.A499V
Missense
SNP
0.497
2-ND
GNAL-
-
-
-
3GainND
GNB1Lp.V108M
Missense
SNP
0.517
2-ND
GNMTp.D272N
Missense
SNP
0.500
2-ND
GOLGA4p.E727D
Missense
SNP
0.582
2-ND
GOLGA7B-
-
-
-
3GainND
GOLPH3p.T148M
Missense
SNP
0.413
2-ND
GOT1-
-
-
-
3GainND
GPAA1p.X389_splice
Splice_Site
SNP
0.593
2-ND
GPAM-
-
-
-
3GainND
GPAT3-
-
-
-
1LossND
GPR158-
-
-
-
3GainND
GPR26-
-
-
-
3GainND
GPR34p.S62Cfs*23
Frame_Shift_Del
DEL
0.365
NDNDND
GPR85p.A311V
Missense
SNP
0.525
2-ND
GPRASP2p.T88M
Missense
SNP
0.476
NDNDND
GPRIN2-
-
-
-
3GainND
GPRIN3p.I138L
Missense
SNP
0.259
1LossND
GRAMD1Ap.V689M
Missense
SNP
0.294
2-ND
GRAMD1Cp.E204G
Missense
SNP
0.162
2-ND
GRB10p.A166T
Missense
SNP
0.500
2-ND
GREB1p.R1530*
Nonsense
SNP
0.257
2-ND
GREB1L-
-
-
-
3GainND
GRID1p.A243V
Missense
SNP
0.134
3GainND
GRID2-
-
-
-
1LossND
GRK5-
-
-
-
3GainND
GRM1p.A32V
Missense
SNP
0.306
2-ND
GRP-
-
-
-
3GainND
GSE1p.E495del
In_Frame_Del
DEL
0.126
2-ND
GSK3Ap.V133M
Missense
SNP
0.547
2-ND
GSTO1-
-
-
-
3GainND
GSTO2-
-
-
-
3GainND
GTF3C3p.T361Lfs*26
Frame_Shift_Del
DEL
0.305
2-ND
GTPBP4-
-
-
-
3GainND
GUCY1B3p.L472I
Missense
SNP
0.478
NDNDND
GUCY2Dp.G557R
Missense
SNP
0.245
2-ND
GZF1p.R566H
Missense
SNP
0.290
2-ND
H2AFY2-
-
-
-
3GainND
HABP2-
-
-
-
3GainND
HACD1-
-
-
-
3GainND
HADHBp.K474N
Missense
SNP
0.484
2-ND
HAUS1-
-
-
-
3GainND
HBE1p.A139V
Missense
SNP
0.571
2-ND
HCFC1p.R524W
Missense
SNP
0.187
NDNDND
HCN3p.R502H
Missense
SNP
0.498
2-ND
HDAC5p.I933Lfs*14
Frame_Shift_Del
DEL
0.500
2-ND
HDGFp.S218Lfs*?
Frame_Shift_Del
DEL
0.343
2-ND
HDHD2-
-
-
-
3GainND
HDHD3p.Q92H
Missense
SNP
0.539
2-ND
HDLBPp.R163H
Missense
SNP
0.206
2-ND
HECTD1p.I2041Lfs*27
Frame_Shift_Del
DEL
0.296
2-ND
HECTD2p.X170_splice
Splice_Site
SNP
0.111
3GainND
HECTD4p.P1869T
Missense
SNP
0.235
2-ND
HELLS-
-
-
-
3GainND
HELQ-
-
-
-
1LossND
HELZp.A149T
Missense
SNP
0.456
2-ND
HERC2p.A335T
Missense
SNP
0.256
2-ND
HERC3-
-
-
-
1LossND
HERC4-
-
-
-
3GainND
HERC5-
-
-
-
1LossND
HERC6-
-
-
-
1LossND
HEXDCp.R502Pfs*16
Frame_Shift_Ins
INS
0.164
2-ND
HFEp.L122M
Missense
SNP
0.504
2-ND
HHEX-
-
-
-
3GainND
HIC2p.T549M
Missense
SNP
0.453
2-ND
HIF1AN-
-
-
-
3GainND
HIST1H4Cp.T72I
Missense
SNP
0.621
2-ND
HK1p.T605M
Missense
SNP
0.329
3GainND
HKDC1-
-
-
-
3GainND
HLA-Fp.A203T
Missense
SNP
0.470
2-ND
HMBOX1p.R35H
Missense
SNP
0.135
2-ND
HMSD-
-
-
-
3GainND
HMX2-
-
-
-
3GainND
HMX3-
-
-
-
3GainND
HNRNPD-
-
-
-
1LossND
HNRNPDL-
-
-
-
1LossND
HNRNPF-
-
-
-
3GainND
HNRNPH3-
-
-
-
3GainND
HNRNPKp.R268W
Missense
SNP
0.512
2-ND
HOGA1-
-
-
-
3GainND
HOXA3p.Q302Pfs*42
Frame_Shift_Ins
INS
0.127
2-ND
HPCAp.R118Q
Missense
SNP
0.402
2-ND
HPNp.E343K
Missense
SNP
0.165
2-ND
HPS1-
-
-
-
3GainND
HPS6-
-
-
-
3GainND
HPSEp.F532Lfs*2
Frame_Shift_Del
DEL
0.364
1LossND
HPSE2-
-
-
-
3GainND
HRGp.R201L
Missense
SNP
0.139
2-ND
HRH4-
-
-
-
3GainND
HRNR-
-
-
-
3GainND
HS6ST2p.R94C
Missense
SNP
0.552
NDNDND
HSBP1L1-
-
-
-
3GainND
HSD17B11-
-
-
-
1LossND
HSD17B13-
-
-
-
1LossND
HSPA12A-
-
-
-
3GainND
HSPA14-
-
-
-
3GainND
HTR3Ap.S178L
Missense
SNP
0.463
2-ND
HTR7-
-
-
-
3GainND
HTRA1-
-
-
-
3GainND
HTTp.R416H
Missense
SNP
0.585
2-ND
HUNKp.E596K
Missense
SNP
0.510
2-ND
IBSP-
-
-
-
1LossND
ICAM5p.R434H
Missense
SNP
0.530
2-ND
IDE-
-
-
-
3GainND
IDH1p.R132H
Missense
SNP
0.625
2-ND
IDI1-
-
-
-
3GainND
IDI2-
-
-
-
3GainND
IER3IP1-
-
-
-
3GainND
IFIT1-
-
-
-
3GainND
IFIT1B-
-
-
-
3GainND
IFIT2-
-
-
-
3GainND
IFIT3-
-
-
-
3GainND
IFIT5-
-
-
-
3GainND
IFNL2p.F137L
p.R152W
Missense
Missense
SNP
SNP
0.085
0.548
2-ND
IGF2BP1p.G541R
Missense
SNP
0.435
2-ND
IKZF5-
-
-
-
3GainND
IL15RA-
-
-
-
3GainND
IL17RCp.W167R
Missense
SNP
0.524
2-ND
IL17RDp.A453V
Missense
SNP
0.420
2-ND
IL2RA-
-
-
-
3GainND
IL31RAp.G534Efs*7
Frame_Shift_Del
DEL
0.438
2-ND
ILKAPp.S202Qfs*52
Frame_Shift_Del
DEL
0.492
2-ND
IMPA2-
-
-
-
3GainND
IMPACT-
-
-
-
3GainND
INA-
-
-
-
3GainND
INHBBp.A153G
Missense
SNP
0.158
2-ND
INO80C-
-
-
-
3GainND
INPP5A-
-
-
-
3GainND
INPP5Fp.V406I
Missense
SNP
0.124
3GainND
INSM2p.H309N
Missense
SNP
0.517
2-ND
INSYN2-
-
-
-
3GainND
INTS5p.S1010del
In_Frame_Del
DEL
0.547
2-ND
INTS6Lp.R305Q
Missense
SNP
0.511
NDNDND
INVSp.N1061Kfs*20
Frame_Shift_Ins
INS
0.298
2-ND
IPMK-
-
-
-
3GainND
IRF8p.S34I
Missense
SNP
0.243
2-ND
IRGCp.V89I
Missense
SNP
0.491
2-ND
IRS1p.R998Vfs*13
Frame_Shift_Del
DEL
0.318
2-ND
IRX3p.E236Rfs*24
Frame_Shift_Del
DEL
0.172
2-ND
ISL2p.G173E
Missense
SNP
0.607
2-ND
ISM1p.A412V
Missense
SNP
0.541
2-ND
ITGA11p.N1031S
Missense
SNP
0.176
2-ND
ITGA8-
-
-
-
3GainND
ITGAEp.L601Wfs*82
Frame_Shift_Del
DEL
0.234
2-ND
ITGAXp.V236M
Missense
SNP
0.211
2-ND
ITGB1-
-
-
-
3GainND
ITIH2-
-
-
-
3GainND
ITIH5-
-
-
-
3GainND
ITPRIP-
-
-
-
3GainND
JAK1p.P430Rfs*2
p.R997W
p.R108Q
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.395
0.500
0.500
2-ND
JAKMIP3-
-
-
-
3GainND
JCAD-
-
-
-
3GainND
JMJD1C-
-
-
-
3GainND
JPH2p.A595V
Missense
SNP
0.544
2-ND
KANK3p.D792N
Missense
SNP
0.404
2-ND
KAT6B-
-
-
-
3GainND
KATNA1p.A428V
Missense
SNP
0.273
2-ND
KATNAL2-
-
-
-
3GainND
KAZALD1-
-
-
-
3GainND
KBTBD13p.T162M
Missense
SNP
0.630
2-ND
KCNC1p.K457Rfs*20
Frame_Shift_Del
DEL
0.493
2-ND
KCNC4p.R413W
Missense
SNP
0.485
2-ND
KCNG2-
-
-
-
3GainND
KCNH2p.W497*
p.R472H
Nonsense
Missense
SNP
SNP
0.424
0.454
2-ND
KCNH5p.V58I
Missense
SNP
0.400
2-ND
KCNIP2-
-
-
-
3GainND
KCNJ4p.P433L
Missense
SNP
0.413
2-ND
KCNK18-
-
-
-
3GainND
KCNMA1-
-
-
-
3GainND
KCTD1-
-
-
-
3GainND
KCTD10p.R308Q
Missense
SNP
0.632
2-ND
KCTD18p.S301R
Missense
SNP
0.513
2-ND
KCTD8p.L209R
Missense
SNP
0.344
2-ND
KDM2Bp.K26Rfs*81
Frame_Shift_Del
DEL
0.244
2-ND
KDM4Cp.Y1011Mfs*16
Frame_Shift_Del
DEL
0.480
2-ND
KDM5Ap.G1200Dfs*9
p.R674Q
Frame_Shift_Del
Missense
DEL
SNP
0.216
0.491
2-ND
KDSR-
-
-
-
3GainND
KIAA0232p.A295T
Missense
SNP
0.052
2-ND
KIAA1161p.R673H
Missense
SNP
0.528
NDNDND
KIAA1217p.R976Gfs*16
p.A233T
p.T1868A
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.697
0.244
0.103
3GainND
KIAA1328-
-
-
-
3GainND
KIAA1522p.A247T
Missense
SNP
0.515
2-ND
KIAA1549p.L283*
Frame_Shift_Del
DEL
0.474
2-ND
KIAA1614p.P50Qfs*15
Frame_Shift_Del
DEL
0.403
2-ND
KIAA2026p.K740Nfs*16
Frame_Shift_Del
DEL
0.130
2-ND
KIF11-
-
-
-
3GainND
KIF13Ap.A364T
Missense
SNP
0.442
2-ND
KIF1BP-
-
-
-
3GainND
KIF20B-
-
-
-
3GainND
KIF21Bp.V33I
Missense
SNP
0.437
2-ND
KIF26Bp.M1883Wfs*19
Frame_Shift_Del
DEL
0.250
2-ND
KIF27p.A1067V
Missense
SNP
0.464
2-ND
KIF5B-
-
-
-
3GainND
KIN-
-
-
-
3GainND
KLF6-
-
-
-
3GainND
KLHL1p.G35Efs*31
Frame_Shift_Del
DEL
0.411
2-ND
KLHL14-
-
-
-
3GainND
KLHL23p.C126Lfs*2
Frame_Shift_Ins
INS
0.309
2-ND
KLHL29p.Y227C
Missense
SNP
0.524
2-ND
KLHL40p.R269W
Missense
SNP
0.062
2-ND
KLHL42p.C399Vfs*44
Frame_Shift_Del
DEL
0.385
2-ND
KLHL8-
-
-
-
1LossND
KLK15p.R130C
Missense
SNP
0.212
2-ND
KLLN-
-
-
-
3GainND
KMT2Bp.P1101Lfs*81
p.R1400C
Frame_Shift_Del
Missense
DEL
SNP
0.144
0.511
2-ND
KMT2Cp.S143Vfs*3
p.P1838H
Frame_Shift_Del
Missense
DEL
SNP
0.486
0.413
2-ND
KMT2Dp.P2354Lfs*30
p.R5086*
Frame_Shift_Del
Nonsense
DEL
SNP
0.437
0.528
2-ND
KMT2Ep.M1354*
Frame_Shift_Del
DEL
0.422
2-ND
KNDC1p.Q1704*
p.D1713N
Nonsense
Missense
SNP
SNP
0.706
0.098
3GainND
KRASp.G13D
Missense
SNP
0.129
2-ND
KRBOX1p.Q77Sfs*6
Frame_Shift_Del
DEL
0.575
2-ND
KRT33Bp.C21R
Missense
SNP
0.212
2-ND
KRT34p.R376W
Missense
SNP
0.589
2-ND
KRT76p.L190H
Missense
SNP
0.275
2-ND
KYAT3p.I153T
Missense
SNP
0.472
2-ND
L3MBTL4-
-
-
-
3GainND
LAMA1p.N496Tfs*27
Frame_Shift_Del
DEL
0.212
3GainND
LAMA3p.P1658Lfs*91
p.R1841H
Frame_Shift_Del
Missense
DEL
SNP
0.110
0.671
3GainND
LAMC3p.R152H
Missense
SNP
0.437
2-ND
LARP4Bp.T163Hfs*47
Frame_Shift_Del
DEL
0.106
3GainND
LBX1-
-
-
-
3GainND
LCLAT1p.N222Mfs*21
Frame_Shift_Del
DEL
0.333
2-ND
LCOR-
-
-
-
3GainND
LCTp.A952T
Missense
SNP
0.478
2-ND
LDB1-
-
-
-
3GainND
LDB3-
-
-
-
3GainND
LDLRAD4-
-
-
-
3GainND
LEFTY2p.P286Rfs*41
Frame_Shift_Del
DEL
0.409
2-ND
LEPp.G8R
Missense
SNP
0.500
2-ND
LGI1-
-
-
-
3GainND
LGR4p.R304C
Missense
SNP
0.476
2-ND
LHPP-
-
-
-
3GainND
LHX2p.T374Pfs*5
Frame_Shift_Del
DEL
0.464
2-ND
LHX9p.R271*
Nonsense
SNP
0.265
2-ND
LIG3p.S241Rfs*65
Frame_Shift_Del
DEL
0.137
2-ND
LIG4p.D868Y
Missense
SNP
0.122
2-ND
LIMA1p.T537Lfs*38
Frame_Shift_Del
DEL
0.426
2-ND
LIMCH1p.P998S
Missense
SNP
0.193
2-ND
LIN54-
-
-
-
1LossND
LIPA-
-
-
-
3GainND
LIPEp.E943D
Missense
SNP
0.530
2-ND
LIPF-
-
-
-
3GainND
LIPG-
-
-
-
3GainND
LIPJ-
-
-
-
3GainND
LIPK-
-
-
-
3GainND
LIPM-
-
-
-
3GainND
LIPN-
-
-
-
3GainND
LMAN1-
-
-
-
3GainND
LOXHD1-
-
-
-
3GainND
LOXL3p.R566H
p.R148C
Missense
Missense
SNP
SNP
0.243
0.551
2-ND
LOXL4p.E431D
Missense
SNP
0.274
3GainND
LPAp.R1464Q
Missense
SNP
0.544
2-ND
LPAR5p.R78C
Missense
SNP
0.515
2-ND
LPIN2-
-
-
-
3GainND
LPOp.G515Afs*9
Frame_Shift_Del
DEL
0.209
2-ND
LRBAp.R1992Q
Missense
SNP
0.423
2-ND
LRIT1-
-
-
-
3GainND
LRIT2-
-
-
-
3GainND
LRMDA-
-
-
-
3GainND
LRP1p.R1628H
Missense
SNP
0.445
2-ND
LRP1Bp.G1820E
Missense
SNP
0.475
2-ND
LRRC18-
-
-
-
3GainND
LRRC20p.A121V
Missense
SNP
0.108
3GainND
LRRC27-
-
-
-
3GainND
LRRC30-
-
-
-
3GainND
LRRC3Bp.T201Lfs*17
Frame_Shift_Del
DEL
0.490
2-ND
LRRC46p.P282H
Missense
SNP
0.548
2-ND
LRRIQ1p.P1237H
Missense
SNP
0.182
2-ND
LRRIQ3p.K244Nfs*17
Frame_Shift_Del
DEL
0.714
2-ND
LRRTM3-
-
-
-
3GainND
LTBP2p.V1543I
Missense
SNP
0.210
2-ND
LTBP3p.G152S
Missense
SNP
0.092
2-ND
LYSTp.R3449Q
Missense
SNP
0.515
2-ND
LYZL1p.G102S
Missense
SNP
0.241
3GainND
LYZL2-
-
-
-
3GainND
LZTR1p.A392V
Missense
SNP
0.617
2-ND
LZTS2-
-
-
-
3GainND
MACF1p.R4914H
Missense
SNP
0.538
2-ND
MAGED2p.X362_splice
Splice_Site
SNP
0.462
NDNDND
MALRD1-
-
-
-
3GainND
MALT1-
-
-
-
3GainND
MAOAp.R454*
Nonsense
SNP
0.424
NDNDND
MAP3K10p.P504Lfs*10
Frame_Shift_Del
DEL
0.165
2-ND
MAP3K7CLp.A16T
Missense
SNP
0.267
2-ND
MAP3K8-
-
-
-
3GainND
MAP4K3p.G190Vfs*16
Frame_Shift_Del
DEL
0.402
2-ND
MAPK10-
-
-
-
1LossND
MAPK4p.S386L
Missense
SNP
0.097
3GainND
MAPK8-
-
-
-
3GainND
MAPK8IP2p.R461*
Nonsense
SNP
0.573
2-ND
MAPKAPK3p.R31Afs*47
Frame_Shift_Ins
INS
0.294
2-ND
MAPRE2p.A45V
Missense
SNP
0.136
3GainND
MARCH5-
-
-
-
3GainND
MARCH8-
-
-
-
3GainND
MARCKSp.A328Sfs*14
Frame_Shift_Ins
INS
0.298
2-ND
MARVELD1-
-
-
-
3GainND
MASP1p.S272N
Missense
SNP
0.413
2-ND
MAST1p.G1280D
Missense
SNP
0.513
2-ND
MASTL-
-
-
-
3GainND
MAT1A-
-
-
-
3GainND
MATN4p.R394H
Missense
SNP
0.277
2-ND
MAZp.F14Lfs*34
Frame_Shift_Ins
INS
0.278
2-ND
MBD1-
-
-
-
3GainND
MBD2-
-
-
-
3GainND
MBL2-
-
-
-
3GainND
MBP-
-
-
-
3GainND
MBTPS1p.G751R
Missense
SNP
0.443
2-ND
MC2R-
-
-
-
3GainND
MC4R-
-
-
-
3GainND
MC5R-
-
-
-
3GainND
MCCC1p.A670V
Missense
SNP
0.445
2-ND
MCHR2p.R140*
Nonsense
SNP
0.537
2-ND
MCM10-
-
-
-
3GainND
MCM3APp.R906C
Missense
SNP
0.216
2-ND
MCM4p.T629Qfs*18
Frame_Shift_Del
DEL
0.365
2-ND
MCM5p.R114Q
Missense
SNP
0.528
2-ND
MCMBP-
-
-
-
3GainND
MCPH1p.T468Pfs*32
Frame_Shift_Del
DEL
0.409
2-ND
MCTP1p.F877Ifs*4
Frame_Shift_Ins
INS
0.302
2-ND
MCU-
-
-
-
3GainND
MDH1Bp.V475I
Missense
SNP
0.122
2-ND
MDM2-
-
-
-
3GainND
MDN1p.E2692*
Frame_Shift_Ins
INS
0.143
2-ND
ME2-
-
-
-
3GainND
MED12p.G1293*
Nonsense
SNP
0.315
NDNDND
MED12Lp.A1125V
Missense
SNP
0.212
2-ND
MEGF10p.K667*
Nonsense
SNP
0.288
2-ND
MEIG1-
-
-
-
3GainND
MEP1B-
-
-
-
3GainND
MEPE-
-
-
-
1LossND
MESTp.R167Q
Missense
SNP
0.466
2-ND
METTL4-
-
-
-
3GainND
METTL7Ap.R93M
Missense
SNP
0.083
2-ND
METTL9p.L110M
Missense
SNP
0.535
2-ND
MEX3Bp.Y55Rfs*21
Frame_Shift_Del
DEL
0.439
2-ND
MEX3C-
-
-
-
3GainND
MFHAS1p.A559T
Missense
SNP
0.184
2-ND
MFSD1p.R58W
Missense
SNP
0.366
2-ND
MFSD13A-
-
-
-
3GainND
MFSD4Bp.C202Vfs*4
Frame_Shift_Del
DEL
0.447
2-ND
MGAMp.E908D
Missense
SNP
0.276
2-ND
MGAT4Cp.G113Efs*20
Frame_Shift_Del
DEL
0.174
2-ND
MGMT-
-
-
-
3GainND
MIB1-
-
-
-
3GainND
MICAL1p.G115R
Missense
SNP
0.455
2-ND
MICAL2p.A580T
Missense
SNP
0.298
2-ND
MICAL3p.R1405Gfs*33
Frame_Shift_Del
DEL
0.535
2-ND
MICALCLp.S51Afs*49
p.R261Q
Frame_Shift_Del
Missense
DEL
SNP
0.428
0.518
NDNDND
MICU1p.R263C
Missense
SNP
0.137
3GainND
MICU3p.R5*
Nonsense
SNP
0.294
2-ND
MIER2p.D492N
Missense
SNP
0.186
2-ND
MINDY3-
-
-
-
3GainND
MINPP1-
-
-
-
3GainND
MISPp.G116R
Missense
SNP
0.456
2-ND
MKI67p.D2147Qfs*29
Frame_Shift_Ins
INS
0.079
3GainND
MKX-
-
-
-
3GainND
MLC1p.L217M
Missense
SNP
0.482
2-ND
MLLT10-
-
-
-
3GainND
MLLT3p.R556C
Missense
SNP
0.470
2-ND
MLXIPp.R214C
p.A498T
Missense
Missense
SNP
SNP
0.537
0.591
2-ND
MMP21-
-
-
-
3GainND
MMRN1-
-
-
-
1LossND
MMRN2-
-
-
-
3GainND
MMS19-
-
-
-
3GainND
MOCOS-
-
-
-
3GainND
MOGAT1p.G112E
Missense
SNP
0.228
2-ND
MORF4L1p.A252V
Missense
SNP
0.282
2-ND
MORN4-
-
-
-
3GainND
MPP7-
-
-
-
3GainND
MPPE1p.E83Gfs*40
Frame_Shift_Ins
INS
0.247
3GainND
MRC1-
-
-
-
3GainND
MRGPRFp.A97V
Missense
SNP
0.210
2-ND
MRO-
-
-
-
3GainND
MROH8p.L976I
Missense
SNP
0.207
2-ND
MRPL1-
-
-
-
1LossND
MRPL43-
-
-
-
3GainND
MRPS16-
-
-
-
3GainND
MRPS18C-
-
-
-
1LossND
MSMB-
-
-
-
3GainND
MSRB2-
-
-
-
3GainND
MSS51-
-
-
-
3GainND
MST1Rp.V898M
Missense
SNP
0.349
2-ND
MTA1p.R682C
Missense
SNP
0.491
2-ND
MTCL1p.A1208V
Missense
SNP
0.149
3GainND
MTG1-
-
-
-
3GainND
MTHFD2L-
-
-
-
1LossND
MTPAP-
-
-
-
3GainND
MTSS1Lp.G560Afs*34
Frame_Shift_Del
DEL
0.532
2-ND
MUC15p.K20Nfs*12
Frame_Shift_Del
DEL
0.472
2-ND
MUC16p.R12249H
p.G5546R
Missense
Missense
SNP
SNP
0.228
0.129
2-ND
MUC5ACp.M5088I
Missense
SNP
0.558
2-ND
MXI1-
-
-
-
3GainND
MXRA5p.Q2399K
p.R2147H
Missense
Missense
SNP
SNP
0.232
0.146
NDNDND
MXRA8p.R301Gfs*107
Frame_Shift_Del
DEL
0.512
2-ND
MYADMp.A189V
p.A220T
Missense
Missense
SNP
SNP
0.149
0.270
2-ND
MYCBP2p.G3497*
Nonsense
SNP
0.521
2-ND
MYEOVp.W272Gfs*66
Frame_Shift_Del
DEL
0.500
2-ND
MYH10p.Q886R
Missense
SNP
0.574
2-ND
MYH7p.E1350K
Missense
SNP
0.242
2-ND
MYH9p.L812I
Missense
SNP
0.425
2-ND
MYL1p.E165D
Missense
SNP
0.186
2-ND
MYL12A-
-
-
-
3GainND
MYL12B-
-
-
-
3GainND
MYL7p.Q79R
Missense
SNP
0.515
2-ND
MYLKp.P21H
Missense
SNP
0.329
2-ND
MYO1Gp.R37C
Missense
SNP
0.534
2-ND
MYO3A-
-
-
-
3GainND
MYO5Ap.I1440Lfs*4
p.A695T
Frame_Shift_Del
Missense
DEL
SNP
0.305
0.204
2-ND
MYO5B-
-
-
-
3GainND
MYO7Bp.P107L
Missense
SNP
0.429
2-ND
MYOFp.I1430V
Missense
SNP
0.260
3GainND
MYOGp.S77P
Missense
SNP
0.204
2-ND
MYOM1-
-
-
-
3GainND
MYOM3p.E1430K
Missense
SNP
0.468
2-ND
MYOZ1-
-
-
-
3GainND
MYPNp.I891*
Frame_Shift_Del
DEL
0.244
3GainND
MZT2B-
-
-
-
1LossND
NAA11-
-
-
-
1LossND
NAAA-
-
-
-
1LossND
NADSYN1p.V454I
Missense
SNP
0.275
2-ND
NANOS1-
-
-
-
3GainND
NAP1L5p.A32V
Missense
SNP
0.404
1LossND
NAPG-
-
-
-
3GainND
NARSp.V536M
Missense
SNP
0.406
3GainND
NAV2p.P29Rfs*11
Frame_Shift_Del
DEL
0.174
2-ND
NCKIPSDp.F631del
In_Frame_Del
DEL
0.571
2-ND
NCOA2p.V1419M
Missense
SNP
0.458
2-ND
NCOA3p.Q78*
Nonsense
SNP
0.667
2-ND
NCOA4-
-
-
-
3GainND
NDC80p.T571M
Missense
SNP
0.667
3GainND
NDST2-
-
-
-
3GainND
NDUFB8-
-
-
-
3GainND
NDUFS7p.A187T
Missense
SNP
0.494
2-ND
NDUFV2-
-
-
-
3GainND
NEBL-
-
-
-
3GainND
NEDD4Lp.N156Mfs*51
Frame_Shift_Del
DEL
0.653
3GainND
NEK1p.D1179Y
Missense
SNP
0.475
2-ND
NEK4p.R743W
Missense
SNP
0.560
2-ND
NET1-
-
-
-
3GainND
NETO1-
-
-
-
3GainND
NEURL1-
-
-
-
3GainND
NEURL1Bp.R533Q
Missense
SNP
0.439
2-ND
NEURL4p.L1256Cfs*12
Frame_Shift_Del
DEL
0.454
2-ND
NEUROD6p.K83Rfs*35
Frame_Shift_Del
DEL
0.444
2-ND
NEUROG3-
-
-
-
3GainND
NF1p.P678Rfs*10
Frame_Shift_Del
DEL
0.454
2-ND
NFATC1-
-
-
-
3GainND
NFE2p.R300Q
Missense
SNP
0.543
2-ND
NFKB2-
-
-
-
3GainND
NHLRC2-
-
-
-
3GainND
NHSL2p.S123L
Missense
SNP
0.463
NDNDND
NIPAL3p.R133C
Missense
SNP
0.211
2-ND
NKAPLp.R127Dfs*8
Frame_Shift_Del
DEL
0.200
2-ND
NKTRp.N766Ifs*30
Frame_Shift_Del
DEL
0.197
2-ND
NKX1-2-
-
-
-
3GainND
NKX2-3-
-
-
-
3GainND
NKX2-8p.Q116H
Missense
SNP
0.277
2-ND
NKX6-1-
-
-
-
1LossND
NKX6-2-
-
-
-
3GainND
NLRC5p.R1500W
Missense
SNP
0.388
2-ND
NLRP2p.R587Q
Missense
SNP
0.468
2-ND
NLRP8p.R175M
p.E619G
Missense
Missense
SNP
SNP
0.305
0.512
2-ND
NMT2-
-
-
-
3GainND
NOC3L-
-
-
-
3GainND
NODAL-
-
-
-
3GainND
NOL4-
-
-
-
3GainND
NOL4Lp.Y133Tfs*20
Frame_Shift_Del
DEL
0.149
2-ND
NOLC1-
-
-
-
3GainND
NOTCH1p.Q462*
Nonsense
SNP
0.469
2-ND
NOTCH2p.R1435W
Missense
SNP
0.291
2-ND
NOVA1p.K210N
Missense
SNP
0.435
2-ND
NPBWR2p.R243Q
Missense
SNP
0.211
2-ND
NPC1-
-
-
-
3GainND
NPFFR1-
-
-
-
3GainND
NPM3-
-
-
-
3GainND
NPR3p.A180T
Missense
SNP
0.293
2-ND
NPRL3p.Y531H
Missense
SNP
0.551
2-ND
NPS-
-
-
-
3GainND
NPY4R-
-
-
-
3GainND
NPY4R2-
-
-
-
3GainND
NR2F1p.N263D
Missense
SNP
0.514
2-ND
NR3C2p.V618A
Missense
SNP
0.432
2-ND
NRAPp.A539V
Missense
SNP
0.118
3GainND
NRBF2-
-
-
-
3GainND
NRG1p.E79*
Nonsense
SNP
0.605
2-ND
NRG3-
-
-
-
3GainND
NRKp.Q410H
p.Q809R
Missense
Missense
SNP
SNP
0.411
0.437
NDNDND
NRP1-
-
-
-
3GainND
NSD1p.M1531Cfs*43
Frame_Shift_Del
DEL
0.487
2-ND
NSMCE1p.V27M
Missense
SNP
0.243
2-ND
NSMCE4A-
-
-
-
3GainND
NSUN6-
-
-
-
3GainND
NT5C2-
-
-
-
3GainND
NTNG2p.G144S
Missense
SNP
0.530
2-ND
NTRK1p.R347H
Missense
SNP
0.599
2-ND
NUDT13-
-
-
-
3GainND
NUDT5-
-
-
-
3GainND
NUDT9-
-
-
-
1LossND
NUP133p.K968del
In_Frame_Del
DEL
0.419
2-ND
NUP54-
-
-
-
1LossND
NXPH4p.G210Afs*166
Frame_Shift_Del
DEL
0.561
2-ND
OAT-
-
-
-
3GainND
OBSCNp.G2909E
Missense
SNP
0.573
2-ND
OCA2p.R555H
Missense
SNP
0.273
2-ND
ODAPH-
-
-
-
1LossND
OGA-
-
-
-
3GainND
OGDHLp.R758W
Missense
SNP
0.095
3GainND
OIT3-
-
-
-
3GainND
OLAH-
-
-
-
3GainND
OLR1p.L206M
Missense
SNP
0.221
2-ND
ONECUT2-
-
-
-
3GainND
OPALIN-
-
-
-
3GainND
OPN4-
-
-
-
3GainND
OPTN-
-
-
-
3GainND
OR10H5p.R90H
Missense
SNP
0.210
2-ND
OR10K1p.R220H
Missense
SNP
0.235
2-ND
OR13A1-
-
-
-
3GainND
OR13C3p.A149T
Missense
SNP
0.494
2-ND
OR13H1p.R298W
Missense
SNP
0.529
NDNDND
OR14C36p.F105Lfs*28
Frame_Shift_Del
DEL
0.445
2-ND
OR1A2p.R122*
Nonsense
SNP
0.438
2-ND
OR1S2p.I26T
Missense
SNP
0.543
2-ND
OR2J2p.N6Mfs*21
Frame_Shift_Del
DEL
0.500
2-ND
OR2T10-
-
-
-
1LossND
OR2T11-
-
-
-
1LossND
OR2T35-
-
-
-
1LossND
OR4C12p.R258C
Missense
SNP
0.506
2-ND
OR4D6p.T241M
Missense
SNP
0.430
2-ND
OR4D9p.S116C
Missense
SNP
0.462
2-ND
OR4K1p.P280L
Missense
SNP
0.201
2-ND
OR4L1p.K228Nfs*55
Frame_Shift_Del
DEL
0.310
2-ND
OR51B5p.M63I
Missense
SNP
0.574
2-ND
OR6C75p.R221W
Missense
SNP
0.470
2-ND
OR6N1p.R165C
Missense
SNP
0.451
2-ND
OR7G2p.Y280H
Missense
SNP
0.184
2-ND
OR8B12p.S234F
Missense
SNP
0.071
2-ND
OR8K3p.F311Lfs*?
Frame_Shift_Del
DEL
0.333
2-ND
ORC3p.T195M
Missense
SNP
0.256
2-ND
OSBPL1A-
-
-
-
3GainND
OTUD1-
-
-
-
3GainND
P2RX5p.Y338C
Missense
SNP
0.462
2-ND
P2RX6p.G63Afs*39
Frame_Shift_Del
DEL
0.292
2-ND
P3H2p.K430Sfs*6
Frame_Shift_Del
DEL
0.375
2-ND
P4HA1-
-
-
-
3GainND
P4HTMp.L416Cfs*6
Frame_Shift_Del
DEL
0.536
2-ND
PALD1-
-
-
-
3GainND
PANK1-
-
-
-
3GainND
PANX3p.R156H
Missense
SNP
0.248
2-ND
PAOX-
-
-
-
3GainND
PAPSS2-
-
-
-
3GainND
PAQR3-
-
-
-
1LossND
PARD3-
-
-
-
3GainND
PARD3Bp.R932G
Missense
SNP
0.441
2-ND
PARD6G-
-
-
-
3GainND
PARG-
-
-
-
3GainND
PARM1-
-
-
-
1LossND
PARP9p.A55T
Missense
SNP
0.581
2-ND
PAX2-
-
-
-
3GainND
PAX7p.A259V
Missense
SNP
0.584
2-ND
PBLD-
-
-
-
3GainND
PBX1p.G124R
Missense
SNP
0.641
2-ND
PCp.R453Q
Missense
SNP
0.375
2-ND
PCBD1-
-
-
-
3GainND
PCDH1p.K1028Qfs*33
Frame_Shift_Ins
INS
0.323
2-ND
PCDH10p.D245G
Missense
SNP
0.261
2-ND
PCDH12p.L685Yfs*7
Frame_Shift_Del
DEL
0.456
2-ND
PCDH15p.P1882H
Missense
SNP
0.164
3GainND
PCDH8p.E648K
Missense
SNP
0.138
2-ND
PCDHA2p.A2V
Missense
SNP
0.245
2-ND
PCDHA6p.R428W
Missense
SNP
0.583
2-ND
PCDHB1p.P147T
Missense
SNP
0.290
2-ND
PCDHB16p.I142Yfs*7
Frame_Shift_Del
DEL
0.498
2-ND
PCDHB4p.G536S
Missense
SNP
0.455
2-ND
PCDHGA3p.A578V
Missense
SNP
0.406
2-ND
PCGF5-
-
-
-
3GainND
PCGF6-
-
-
-
3GainND
PCK1p.I612Rfs*5
Frame_Shift_Ins
INS
0.200
2-ND
PCLOp.L2443Vfs*15
p.T1689Qfs*16
p.S3436G
p.S1052L
Frame_Shift_Ins
Frame_Shift_Del
Missense
Missense
INS
DEL
SNP
SNP
0.280
0.280
0.505
0.412
2-ND
PCNX1p.E466K
Missense
SNP
0.485
2-ND
PCSK1Np.A31Rfs*7
Frame_Shift_Del
DEL
0.405
NDNDND
PCSK9p.R93H
Missense
SNP
0.519
2-ND
PCYOX1p.R484C
Missense
SNP
0.557
2-ND
PDCD11-
-
-
-
3GainND
PDCD4-
-
-
-
3GainND
PDE5Ap.H617Y
Missense
SNP
0.514
2-ND
PDE6C-
-
-
-
3GainND
PDLIM1-
-
-
-
3GainND
PDSS1-
-
-
-
3GainND
PDX1p.S231P
Missense
SNP
0.485
2-ND
PDZD2p.K104Qfs*38
Frame_Shift_Ins
INS
0.228
2-ND
PDZD3p.G92*
Nonsense
SNP
0.253
2-ND
PDZD7-
-
-
-
3GainND
PDZD8-
-
-
-
3GainND
PDZRN3p.A947T
Missense
SNP
0.228
2-ND
PEG3p.S403L
Missense
SNP
0.486
2-ND
PER2p.A1049T
p.V368M
Missense
Missense
SNP
SNP
0.225
0.203
2-ND
PEX5p.R241W
Missense
SNP
0.432
2-ND
PF4-
-
-
-
1LossND
PF4V1-
-
-
-
1LossND
PFKFB3-
-
-
-
3GainND
PFKPp.R265Gfs*2
p.I320V
Frame_Shift_Del
Missense
DEL
SNP
0.220
0.727
3GainND
PGAM1-
-
-
-
3GainND
PGAP2p.R314*
Nonsense
SNP
0.393
2-ND
PHF13p.A145T
Missense
SNP
0.396
2-ND
PHF21Ap.P652Lfs*104
Frame_Shift_Del
DEL
0.506
2-ND
PHKG2p.R71W
Missense
SNP
0.476
2-ND
PHLPP1-
-
-
-
3GainND
PHYH-
-
-
-
3GainND
PHYHIPL-
-
-
-
3GainND
PI4K2A-
-
-
-
3GainND
PIAS2-
-
-
-
3GainND
PIDD1p.L30V
Missense
SNP
0.224
2-ND
PIEZO2-
-
-
-
3GainND
PIGN-
-
-
-
3GainND
PIGY-
-
-
-
1LossND
PIK3AP1-
-
-
-
3GainND
PIK3C2Ap.A916T
Missense
SNP
0.262
2-ND
PIK3C3-
-
-
-
3GainND
PIK3CDp.C355Y
Missense
SNP
0.529
2-ND
PIK3R4p.V448I
Missense
SNP
0.388
2-ND
PIP4K2A-
-
-
-
3GainND
PIP5KL1p.R9Afs*47
Frame_Shift_Del
DEL
0.449
2-ND
PITRM1-
-
-
-
3GainND
PITX3-
-
-
-
3GainND
PIWIL2p.S787N
Missense
SNP
0.182
2-ND
PIWIL3p.R256H
Missense
SNP
0.460
2-ND
PKD2-
-
-
-
1LossND
PKD2L1-
-
-
-
3GainND
PKN2p.E854D
Missense
SNP
0.480
2-ND
PLA2G12B-
-
-
-
3GainND
PLAC8-
-
-
-
1LossND
PLAC9-
-
-
-
3GainND
PLATp.T46M
Missense
SNP
0.630
2-ND
PLAU-
-
-
-
3GainND
PLCE1-
-
-
-
3GainND
PLD3p.A402V
Missense
SNP
0.538
2-ND
PLD5p.V376I
Missense
SNP
0.498
2-ND
PLECp.T3608M
p.E2305*
p.R609H
Missense
Nonsense
Missense
SNP
SNP
SNP
0.551
0.400
0.437
2-ND
PLEKHA1-
-
-
-
3GainND
PLEKHO1p.Q256Rfs*6
Frame_Shift_Del
DEL
0.462
2-ND
PLEKHS1-
-
-
-
3GainND
PLPP4-
-
-
-
3GainND
PLXDC2-
-
-
-
3GainND
PLXNA1p.T508M
p.D1478N
Missense
Missense
SNP
SNP
0.139
0.597
2-ND
PMAIP1-
-
-
-
3GainND
PMLp.E27Rfs*71
Frame_Shift_Del
DEL
0.204
2-ND
PMS2p.R199C
Missense
SNP
0.447
2-ND
PNISRp.R697Gfs*15
Frame_Shift_Del
DEL
0.419
2-ND
PNLIP-
-
-
-
3GainND
PNLIPRP1-
-
-
-
3GainND
PNLIPRP2-
-
-
-
3GainND
PNLIPRP3-
-
-
-
3GainND
PNPLA2p.A432T
Missense
SNP
0.517
2-ND
POLI-
-
-
-
3GainND
POLL-
-
-
-
3GainND
POLR2Ap.R364S
Missense
SNP
0.282
2-ND
POLR3A-
-
-
-
3GainND
POTEC-
-
-
-
3GainND
POU2F2p.S577G
Missense
SNP
0.529
2-ND
PPA1-
-
-
-
3GainND
PPBP-
-
-
-
1LossND
PPDPFp.R55Afs*59
Frame_Shift_Del
DEL
0.459
2-ND
PPEF2-
-
-
-
1LossND
PPFIA2p.R50W
Missense
SNP
0.455
2-ND
PPFIA4p.R820H
Missense
SNP
0.113
2-ND
PPHLN1p.E370G
Missense
SNP
0.481
2-ND
PPIF-
-
-
-
3GainND
PPIL1p.R72*
Nonsense
SNP
0.608
2-ND
PPLp.R419Q
Missense
SNP
0.402
2-ND
PPM1K-
-
-
-
1LossND
PPP1R12Bp.R49H
Missense
SNP
0.219
2-ND
PPP1R12Cp.I373Sfs*51
Frame_Shift_Del
DEL
0.426
2-ND
PPP1R3C-
-
-
-
3GainND
PPP2R1Ap.T524M
Missense
SNP
0.531
2-ND
PPP2R2D-
-
-
-
3GainND
PPP3CB-
-
-
-
3GainND
PPP4R1-
-
-
-
3GainND
PPRC1p.G704Vfs*30
Frame_Shift_Del
DEL
0.173
3GainND
PQLC1-
-
-
-
3GainND
PRAP1-
-
-
-
3GainND
PRDM8-
-
-
-
1LossND
PRDX3-
-
-
-
3GainND
PRDX4p.R171Efs*6
Frame_Shift_Del
DEL
0.212
NDNDND
PRELID3A-
-
-
-
3GainND
PRELPp.N334Qfs*8
Frame_Shift_Ins
INS
0.285
2-ND
PRF1-
-
-
-
3GainND
PRG4p.T367I
Missense
SNP
0.404
2-ND
PRICKLE3p.Q533R
Missense
SNP
0.408
NDNDND
PRKCBp.V177A
Missense
SNP
0.061
2-ND
PRKCDBPp.G182R
Missense
SNP
0.177
NDNDND
PRKCIp.R192W
Missense
SNP
0.162
2-ND
PRKCQp.R703W
Missense
SNP
0.137
3GainND
PRKG1p.R297K
Missense
SNP
0.091
3GainND
PRKG2-
-
-
-
1LossND
PRLHRp.R270H
Missense
SNP
0.117
3GainND
PRMT2p.A23V
Missense
SNP
0.395
2-ND
PROM2p.E728Vfs*17
Frame_Shift_Del
DEL
0.357
2-ND
PROSCp.Q71H
Missense
SNP
0.596
NDNDND
PROSER2-
-
-
-
3GainND
PROX1p.P143S
Missense
SNP
0.229
2-ND
PRPF18-
-
-
-
3GainND
PRPF40Bp.P40L
p.R491*
Missense
Nonsense
SNP
SNP
0.575
0.441
2-ND
PRPF8p.R49W
Missense
SNP
0.476
2-ND
PRR12p.F1281L
Missense
SNP
0.491
2-ND
PRR14Lp.F1767del
In_Frame_Del
DEL
0.424
2-ND
PRR26-
-
-
-
3GainND
PRR35p.A246Gfs*88
Frame_Shift_Ins
INS
0.225
2-ND
PRSS8p.K231N
Missense
SNP
0.119
2-ND
PRTFDC1-
-
-
-
3GainND
PRXL2A-
-
-
-
3GainND
PSAP-
-
-
-
3GainND
PSD-
-
-
-
3GainND
PSEN1p.S178Hfs*24
Frame_Shift_Del
DEL
0.333
2-ND
PSG2p.A263V
Missense
SNP
0.512
2-ND
PSMA6p.V183*
Frame_Shift_Del
DEL
0.052
2-ND
PSMA8-
-
-
-
3GainND
PSMC2p.A269Sfs*7
Frame_Shift_Ins
INS
0.121
2-ND
PSMC5p.E396G
Missense
SNP
0.508
2-ND
PSMD1p.K124Nfs*11
Frame_Shift_Del
DEL
0.235
2-ND
PSMG2-
-
-
-
3GainND
PSTK-
-
-
-
3GainND
PSTPIP2-
-
-
-
3GainND
PTCHD3p.A235V
Missense
SNP
0.112
3GainND
PTEN-
-
-
-
3GainND
PTER-
-
-
-
3GainND
PTF1A-
-
-
-
3GainND
PTK2Bp.T603M
Missense
SNP
0.213
2-ND
PTNp.V42*
Frame_Shift_Del
DEL
0.432
2-ND
PTOV1p.*417Sfs*14
Frame_Shift_Del
DEL
0.317
2-ND
PTPN13-
-
-
-
1LossND
PTPN2-
-
-
-
3GainND
PTPN20-
-
-
-
3GainND
PTPRDp.V1848I
p.R401W
Missense
Missense
SNP
SNP
0.588
0.439
2-ND
PTPRE-
-
-
-
3GainND
PTPRKp.Y1057Tfs*61
Frame_Shift_Del
DEL
0.176
2-ND
PTPRMp.R226*
Nonsense
SNP
0.125
3GainND
PTPRTp.P372L
Missense
SNP
0.508
2-ND
PUM1p.R922Q
Missense
SNP
0.556
2-ND
PWWP2B-
-
-
-
3GainND
PYGO2p.Q150Rfs*11
Frame_Shift_Del
DEL
0.238
2-ND
PYROXD2-
-
-
-
3GainND
PYURF-
-
-
-
1LossND
QKIp.A273V
Missense
SNP
0.524
2-ND
QSER1p.N1697Mfs*4
Frame_Shift_Del
DEL
0.509
2-ND
R3HCC1L-
-
-
-
3GainND
RAB11FIP2-
-
-
-
3GainND
RAB11FIP4p.T257M
Missense
SNP
0.655
2-ND
RAB12-
-
-
-
3GainND
RAB18p.P4S
Missense
SNP
0.273
3GainND
RAB27B-
-
-
-
3GainND
RAB31-
-
-
-
3GainND
RAB3GAP2p.A428T
Missense
SNP
0.199
2-ND
RAB40Cp.K261N
Missense
SNP
0.462
2-ND
RAB4Bp.R129W
Missense
SNP
0.446
2-ND
RABEP2p.Q470*
Nonsense
SNP
0.404
2-ND
RADILp.V165M
Missense
SNP
0.643
2-ND
RAI2p.V474M
Missense
SNP
0.532
NDNDND
RALBP1-
-
-
-
3GainND
RALGAPBp.F971Sfs*53
Frame_Shift_Del
DEL
0.413
2-ND
RANBP17p.N641Tfs*35
Frame_Shift_Del
DEL
0.303
2-ND
RANBP3p.T292M
Missense
SNP
0.582
2-ND
RANGAP1p.G21Dfs*3
Frame_Shift_Del
DEL
0.471
2-ND
RAPGEF4p.E389Kfs*10
Frame_Shift_Del
DEL
0.421
2-ND
RASAL3p.R39H
Missense
SNP
0.568
2-ND
RASGEF1A-
-
-
-
3GainND
RASGEF1B-
-
-
-
1LossND
RASGRP3p.R549Q
Missense
SNP
0.615
2-ND
RASL11Bp.R109C
Missense
SNP
0.540
2-ND
RASSF4-
-
-
-
3GainND
RASSF9p.R166Q
Missense
SNP
0.214
2-ND
RAX-
-
-
-
3GainND
RBBP8-
-
-
-
3GainND
RBFA-
-
-
-
3GainND
RBM10p.R960W
Missense
SNP
0.163
NDNDND
RBM14p.F191Lfs*40
Frame_Shift_Del
DEL
0.431
2-ND
RBM17-
-
-
-
3GainND
RBM20p.R1057Q
Missense
SNP
0.683
3GainND
RBM27p.K816Nfs*5
Frame_Shift_Del
DEL
0.473
2-ND
RBM43p.I136Sfs*4
Frame_Shift_Del
DEL
0.380
2-ND
RBM46p.R266W
Missense
SNP
0.394
2-ND
RBM47p.G112S
Missense
SNP
0.500
2-ND
RBM48p.P217H
Missense
SNP
0.464
2-ND
RBM4Bp.P154Lfs*24
Frame_Shift_Del
DEL
0.446
2-ND
RBP3-
-
-
-
3GainND
RBP4-
-
-
-
3GainND
RCAN3p.A151S
Missense
SNP
0.550
2-ND
RCC1p.R33H
Missense
SNP
0.449
2-ND
RCHY1-
-
-
-
1LossND
RDH10.
Missense
DEL
0.513
2-ND
RECQL4p.A207Pfs*6
Frame_Shift_Del
DEL
0.196
2-ND
REEP3-
-
-
-
3GainND
RELAp.H487Pfs*4
Frame_Shift_Ins
INS
0.241
2-ND
RELCH-
-
-
-
3GainND
REREp.P940L
Missense
SNP
0.500
2-ND
RET-
-
-
-
3GainND
RETSATp.A586T
Missense
SNP
0.352
2-ND
RGR-
-
-
-
3GainND
RGS10-
-
-
-
3GainND
RGS12p.P1357L
Missense
SNP
0.566
2-ND
RHOBTB1-
-
-
-
3GainND
RHOXF1p.D174Tfs*22
Frame_Shift_Del
DEL
0.403
NDNDND
RINT1p.P247Lfs*8
Frame_Shift_Del
DEL
0.488
2-ND
RIOK3-
-
-
-
3GainND
RIPK4p.A147T
Missense
SNP
0.444
2-ND
RIT2-
-
-
-
3GainND
RLFp.R721*
Nonsense
SNP
0.439
2-ND
RMC1-
-
-
-
3GainND
RNF113Bp.G104V
Missense
SNP
0.518
2-ND
RNF121p.R194W
Missense
SNP
0.448
2-ND
RNF125-
-
-
-
3GainND
RNF128p.R6M
Missense
SNP
0.472
NDNDND
RNF138-
-
-
-
3GainND
RNF152-
-
-
-
3GainND
RNF165-
-
-
-
3GainND
RNF20p.R244H
Missense
SNP
0.172
2-ND
RNLS-
-
-
-
3GainND
RNMT-
-
-
-
3GainND
ROBO2p.L601P
Missense
SNP
0.629
2-ND
ROCK1p.R349Q
Missense
SNP
0.181
3GainND
RORCp.R282T
Missense
SNP
0.309
2-ND
ROS1p.V2276A
p.G1915R
Missense
Missense
SNP
SNP
0.511
0.514
2-ND
RP11-310K10.1p.A353T
Missense
SNP
0.537
NDNDND
RPEL1-
-
-
-
3GainND
RPL17-
-
-
-
3GainND
RPL17-C18orf32-
-
-
-
3GainND
RPL22p.K15Rfs*5
Frame_Shift_Del
DEL
0.373
2-ND
RPL3Lp.A75V
Missense
SNP
0.646
2-ND
RPL7Ap.K11del
In_Frame_Del
DEL
0.484
2-ND
RPP30-
-
-
-
3GainND
RPP38-
-
-
-
3GainND
RPRD1A-
-
-
-
3GainND
RPS24-
-
-
-
3GainND
RPTN-
-
-
-
3GainND
RPUSD4p.R235W
Missense
SNP
0.248
2-ND
RREB1p.S600N
Missense
SNP
0.188
2-ND
RRP12-
-
-
-
3GainND
RSPO1p.R229M
Missense
SNP
0.324
2-ND
RSU1-
-
-
-
3GainND
RTCAp.T334M
Missense
SNP
0.533
2-ND
RTF1p.R333*
Nonsense
SNP
0.416
2-ND
RTKN2-
-
-
-
3GainND
RTTN-
-
-
-
3GainND
RUFY2-
-
-
-
3GainND
SACSp.K1717Nfs*8
Frame_Shift_Del
DEL
0.382
2-ND
SALL3p.T658M
Missense
SNP
0.631
3GainND
SAMD8-
-
-
-
3GainND
SAR1A-
-
-
-
3GainND
SATB1p.G276E
Missense
SNP
0.193
2-ND
SCAF1p.T1181Pfs*28
Frame_Shift_Del
DEL
0.434
2-ND
SCARB2-
-
-
-
1LossND
SCART1-
-
-
-
3GainND
SCD-
-
-
-
3GainND
SCD5-
-
-
-
1LossND
SCN4Ap.W1002*
Nonsense
SNP
0.257
2-ND
SCN5Ap.S873T
Missense
SNP
0.322
2-ND
SCN8Ap.W942C
Missense
SNP
0.505
2-ND
SCRIBp.F1211L
Missense
SNP
0.418
2-ND
SCX-
-
-
-
1LossND
SDAD1-
-
-
-
1LossND
SDK1p.R140C
Missense
SNP
0.591
2-ND
SEC11C-
-
-
-
3GainND
SEC14L5p.A349V
Missense
SNP
0.511
2-ND
SEC16Bp.V643M
Missense
SNP
0.441
2-ND
SEC23IP-
-
-
-
3GainND
SEC24C-
-
-
-
3GainND
SEC24Dp.P344H
Missense
SNP
0.324
2-ND
SEC31A-
-
-
-
1LossND
SEC31B-
-
-
-
3GainND
SEC61A2-
-
-
-
3GainND
SEH1L-
-
-
-
3GainND
SELPp.V501I
Missense
SNP
0.393
2-ND
SEMA4G-
-
-
-
3GainND
SEMA5Bp.P325L
Missense
SNP
0.565
2-ND
SEMG1p.A241V
Missense
SNP
0.432
2-ND
SENP6p.R1072*
Nonsense
SNP
0.423
2-ND
SENP7p.K545Nfs*11
Frame_Shift_Del
DEL
0.655
2-ND
SEPHS1-
-
-
-
3GainND
SEPT11-
-
-
-
1LossND
SERAC1p.V8I
Missense
SNP
0.391
2-ND
SERPINB10-
-
-
-
3GainND
SERPINB11-
-
-
-
3GainND
SERPINB12-
-
-
-
3GainND
SERPINB13-
-
-
-
3GainND
SERPINB2-
-
-
-
3GainND
SERPINB3-
-
-
-
3GainND
SERPINB4-
-
-
-
3GainND
SERPINB5-
-
-
-
3GainND
SERPINB7-
-
-
-
3GainND
SERPINB8-
-
-
-
3GainND
SETBP1-
-
-
-
3GainND
SETD1Ap.G708Vfs*95
Frame_Shift_Del
DEL
0.235
2-ND
SETD1Bp.H8Tfs*27
p.S291N
Frame_Shift_Del
Missense
DEL
SNP
0.395
0.553
2-ND
SETD5p.S1286Lfs*37
Frame_Shift_Ins
INS
0.299
2-ND
SEZ6L2p.T77M
Missense
SNP
0.517
2-ND
SFMBT2-
-
-
-
3GainND
SFR1-
-
-
-
3GainND
SFRP5-
-
-
-
3GainND
SFTPA1-
-
-
-
3GainND
SFTPA2-
-
-
-
3GainND
SFTPD-
-
-
-
3GainND
SFXN2p.D75G
Missense
SNP
0.318
3GainND
SFXN3-
-
-
-
3GainND
SFXN4-
-
-
-
3GainND
SGMS1-
-
-
-
3GainND
SGO1p.R522Efs*39
p.M325Cfs*28
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.472
0.498
2-ND
SGPL1-
-
-
-
3GainND
SH2D4B-
-
-
-
3GainND
SH3PXD2A-
-
-
-
3GainND
SHANK1p.T1808Rfs*11
p.X154_splice
Frame_Shift_Del
Splice_Site
DEL
SNP
0.177
0.196
2-ND
SHC2p.P407Rfs*37
Frame_Shift_Del
DEL
0.383
2-ND
SHISA7p.G359Afs*178
Frame_Shift_Del
DEL
0.569
2-ND
SHLD2-
-
-
-
3GainND
SHOC2-
-
-
-
3GainND
SHROOM2p.R753Q
Missense
SNP
0.502
NDNDND
SHROOM3p.A1622T
Missense
SNP
0.333
1LossND
SHROOM4p.K1314Rfs*23
p.R242C
Frame_Shift_Del
Missense
DEL
SNP
0.412
0.528
NDNDND
SHTN1-
-
-
-
3GainND
SIGLEC15-
-
-
-
3GainND
SIPA1L3p.A460T
Missense
SNP
0.169
2-ND
SIRT1-
-
-
-
3GainND
SIX5p.A625Pfs*31
Frame_Shift_Del
DEL
0.521
2-ND
SKA1-
-
-
-
3GainND
SKIDA1-
-
-
-
3GainND
SKOR2-
-
-
-
3GainND
SLAp.R173H
Missense
SNP
0.160
2-ND
SLC10A6-
-
-
-
1LossND
SLC14A1-
-
-
-
3GainND
SLC14A2-
-
-
-
3GainND
SLC16A10p.I282Ffs*9
Frame_Shift_Del
DEL
0.202
2-ND
SLC16A12-
-
-
-
3GainND
SLC16A2p.G147R
Missense
SNP
0.516
NDNDND
SLC16A9-
-
-
-
3GainND
SLC18A2p.G231V
Missense
SNP
0.099
3GainND
SLC18A3-
-
-
-
3GainND
SLC19A3p.R277H
Missense
SNP
0.412
2-ND
SLC1A7p.R11Gfs*27
p.T406I
Frame_Shift_Del
Missense
DEL
SNP
0.226
0.445
2-ND
SLC22A16p.T87M
Missense
SNP
0.457
2-ND
SLC22A18p.T93M
Missense
SNP
0.333
2-ND
SLC22A3p.R407H
Missense
SNP
0.281
2-ND
SLC22A6p.R192W
Missense
SNP
0.551
2-ND
SLC25A16-
-
-
-
3GainND
SLC25A17p.L30Wfs*42
Frame_Shift_Del
DEL
0.158
2-ND
SLC25A23p.R332Vfs*28
Frame_Shift_Del
DEL
0.178
2-ND
SLC25A24p.G192R
Missense
SNP
0.488
2-ND
SLC25A28-
-
-
-
3GainND
SLC25A52-
-
-
-
3GainND
SLC26A1p.R365H
Missense
SNP
0.310
2-ND
SLC29A3-
-
-
-
3GainND
SLC30A8p.S183R
Missense
SNP
0.585
2-ND
SLC35E3-
-
-
-
3GainND
SLC35G1-
-
-
-
3GainND
SLC35G4-
-
-
-
3GainND
SLC39A12-
-
-
-
3GainND
SLC39A13p.A279T
Missense
SNP
0.500
2-ND
SLC39A6-
-
-
-
3GainND
SLC44A4p.V238Wfs*5
Frame_Shift_Del
DEL
0.398
2-ND
SLC45A1p.P494L
Missense
SNP
0.337
2-ND
SLC5A11p.S453P
Missense
SNP
0.211
2-ND
SLC5A6p.R142*
Nonsense
SNP
0.444
2-ND
SLC6A17p.G110E
Missense
SNP
0.182
2-ND
SLC7A10p.T158Pfs*12
Frame_Shift_Del
DEL
0.483
2-ND
SLC9C1p.F10Sfs*11
Frame_Shift_Del
DEL
0.317
2-ND
SLCO4A1p.T297M
Missense
SNP
0.475
2-ND
SLF1p.R126K
Missense
SNP
0.253
2-ND
SLF2-
-
-
-
3GainND
SLIT1p.R1481H
Missense
SNP
0.179
3GainND
SLIT2p.N929Mfs*46
Frame_Shift_Del
DEL
0.167
2-ND
SLITRK2p.Q61Pfs*35
Frame_Shift_Ins
INS
0.141
NDNDND
SLITRK5p.N762Tfs*12
Frame_Shift_Del
DEL
0.388
2-ND
SLK-
-
-
-
3GainND
SMAD2-
-
-
-
3GainND
SMAD4p.G336R
Missense
SNP
0.158
3GainND
SMAD7p.P209Lfs*115
Frame_Shift_Del
DEL
0.111
3GainND
SMAP1p.E169Kfs*51
Frame_Shift_Del
DEL
0.091
2-ND
SMARCA1p.K57del
In_Frame_Del
DEL
0.352
NDNDND
SMARCA4p.G271Rfs*16
p.G911D
p.R1157Q
Frame_Shift_Ins
Missense
Missense
INS
SNP
SNP
0.279
0.449
0.636
2-ND
SMARCD1p.R503*
Nonsense
SNP
0.500
2-ND
SMC2p.K368E
Missense
SNP
0.404
2-ND
SMC3-
-
-
-
3GainND
SMCHD1-
-
-
-
3GainND
SMIM21-
-
-
-
3GainND
SMNDC1-
-
-
-
3GainND
SMPD4-
-
-
-
1LossND
SMPXp.R34Qfs*8
Frame_Shift_Ins
INS
0.297
NDNDND
SMYD4p.S737G
Missense
SNP
0.395
2-ND
SNCA-
-
-
-
1LossND
SNCG-
-
-
-
3GainND
SND1p.R539H
Missense
SNP
0.463
2-ND
SNED1p.P701Rfs*4
p.A371V
Frame_Shift_Del
Missense
DEL
SNP
0.536
0.133
2-ND
SNRPBp.R25W
Missense
SNP
0.421
2-ND
SNRPD1-
-
-
-
3GainND
SNW1p.Q15H
Missense
SNP
0.722
2-ND
SOCS6-
-
-
-
3GainND
SORBS1-
-
-
-
3GainND
SORCS1-
-
-
-
3GainND
SORCS3-
-
-
-
3GainND
SOS1p.K1030Nfs*6
Frame_Shift_Del
DEL
0.455
2-ND
SOWAHB-
-
-
-
1LossND
SPAG5p.R259C
Missense
SNP
0.429
2-ND
SPAG6-
-
-
-
3GainND
SPARCL1-
-
-
-
1LossND
SPATA13p.R896H
Missense
SNP
0.481
2-ND
SPATA22p.N194Tfs*30
Frame_Shift_Del
DEL
0.517
2-ND
SPATA31A1p.S1009Y
Missense
SNP
0.393
2-ND
SPATA31D4p.N780Kfs*6
Frame_Shift_Ins
INS
0.084
2-ND
SPENp.V1907I
Missense
SNP
0.533
2-ND
SPHK1p.A146V
Missense
SNP
0.244
2-ND
SPIRE1-
-
-
-
3GainND
SPNS2p.G79Afs*91
Frame_Shift_Del
DEL
0.485
2-ND
SPOCK2-
-
-
-
3GainND
SPON1p.R758C
Missense
SNP
0.333
2-ND
SPON2p.T209M
Missense
SNP
0.340
2-ND
SPP1-
-
-
-
1LossND
SPRN-
-
-
-
3GainND
SPTAN1p.R474W
Missense
SNP
0.441
2-ND
SPTBN4p.C355Y
Missense
SNP
0.563
2-ND
SREBF1p.A1026T
Missense
SNP
0.613
2-ND
SRGAP3p.R585Q
Missense
SNP
0.605
2-ND
SRGN-
-
-
-
3GainND
SRP68p.T302M
Missense
SNP
0.244
2-ND
SRPRAp.K170Rfs*33
Frame_Shift_Del
DEL
0.435
2-ND
SRRTp.G105Wfs*15
Frame_Shift_Ins
INS
0.113
2-ND
SS18-
-
-
-
3GainND
SSRP1p.R463W
Missense
SNP
0.451
2-ND
SSTR1p.R336H
Missense
SNP
0.217
2-ND
SSTR3p.R161Afs*28
Frame_Shift_Del
DEL
0.312
2-ND
SSTR4p.R252C
Missense
SNP
0.488
2-ND
SSU72p.D50N
Missense
SNP
0.450
2-ND
ST8SIA3-
-
-
-
3GainND
ST8SIA5-
-
-
-
3GainND
ST8SIA6p.A252Pfs*53
Frame_Shift_Del
DEL
0.090
3GainND
STAB1p.E1712Rfs*8
Frame_Shift_Ins
INS
0.247
2-ND
STAG2p.R1195C
Missense
SNP
0.224
NDNDND
STAM-
-
-
-
3GainND
STAMBPL1-
-
-
-
3GainND
STARD6-
-
-
-
3GainND
STAT5Bp.R430H
Missense
SNP
0.406
2-ND
STBD1-
-
-
-
1LossND
STK32C-
-
-
-
3GainND
STK38p.F382Lfs*70
Frame_Shift_Del
DEL
0.417
2-ND
STMN4p.R205Q
Missense
SNP
0.559
2-ND
STN1-
-
-
-
3GainND
STOX1-
-
-
-
3GainND
STRBPp.R289*
Nonsense
SNP
0.447
2-ND
STRNp.G345V
Missense
SNP
0.216
2-ND
SUFUp.R224Q
Missense
SNP
0.213
3GainND
SULT6B1p.K48Sfs*21
Frame_Shift_Del
DEL
0.244
2-ND
SUPT5Hp.Y564H
p.R700Q
Missense
Missense
SNP
SNP
0.541
0.573
2-ND
SUPV3L1-
-
-
-
3GainND
SURF2p.R28M
Missense
SNP
0.447
2-ND
SURF6p.R216H
Missense
SNP
0.571
2-ND
SUV39H2-
-
-
-
3GainND
SVIL-
-
-
-
3GainND
SYCE1-
-
-
-
3GainND
SYNGAP1p.P798L
Missense
SNP
0.230
2-ND
SYNPOp.S750N
Missense
SNP
0.400
2-ND
SYNPO2L-
-
-
-
3GainND
SYT15-
-
-
-
3GainND
SYT4-
-
-
-
3GainND
TACC1p.K261Qfs*9
Frame_Shift_Ins
INS
0.347
2-ND
TACC2-
-
-
-
3GainND
TACR2-
-
-
-
3GainND
TAF3-
-
-
-
3GainND
TAF4p.X588_splice
Splice_Site
SNP
0.536
2-ND
TAF4B-
-
-
-
3GainND
TAF5-
-
-
-
3GainND
TAOK3p.A784V
Missense
SNP
0.515
2-ND
TAS1R1p.L75I
Missense
SNP
0.163
2-ND
TAS1R2p.R226H
Missense
SNP
0.500
2-ND
TBATA-
-
-
-
3GainND
TBC1D12-
-
-
-
3GainND
TCEAL4p.A16V
Missense
SNP
0.440
NDNDND
TCERG1p.A241_Q242del
In_Frame_Del
DEL
0.196
2-ND
TCERG1L-
-
-
-
3GainND
TCF3p.R609W
Missense
SNP
0.526
2-ND
TCF4-
-
-
-
3GainND
TCF7L2p.K466E
Missense
SNP
0.115
3GainND
TCHH-
-
-
-
3GainND
TCP11L2p.L308P
Missense
SNP
0.567
2-ND
TCTN3-
-
-
-
3GainND
TDRD1-
-
-
-
3GainND
TEAD2p.H299Mfs*12
Frame_Shift_Del
DEL
0.610
2-ND
TECTB-
-
-
-
3GainND
TENM3p.R1195W
Missense
SNP
0.168
2-ND
TESMINp.G86Afs*70
Frame_Shift_Del
DEL
0.173
2-ND
TET1p.R222H
Missense
SNP
0.089
3GainND
TEX264p.R203W
Missense
SNP
0.525
2-ND
TEX36-
-
-
-
3GainND
TFAMp.E148Sfs*2
Frame_Shift_Del
DEL
0.659
3GainND
TFCP2p.R257Q
Missense
SNP
0.471
2-ND
TGIF1-
-
-
-
3GainND
TGM1p.R46C
Missense
SNP
0.536
2-ND
TGM7p.R498M
Missense
SNP
0.236
2-ND
THAP5p.K99Nfs*25
Frame_Shift_Del
DEL
0.172
2-ND
THAP6-
-
-
-
1LossND
THAP8p.L116Cfs*15
Frame_Shift_Del
DEL
0.515
2-ND
THAP9-
-
-
-
1LossND
THBS2p.R812*
Nonsense
SNP
0.156
2-ND
THNSL1-
-
-
-
3GainND
THOC1-
-
-
-
3GainND
THSD7Bp.G987C
Missense
SNP
0.452
2-ND
TIAL1-
-
-
-
3GainND
TICAM1p.A568V
Missense
SNP
0.290
2-ND
TICRRp.R1086*
Nonsense
SNP
0.492
2-ND
TIE1p.R603H
Missense
SNP
0.500
2-ND
TIFABp.E143D
Missense
SNP
0.562
2-ND
TIGD2-
-
-
-
1LossND
TIMM21-
-
-
-
3GainND
TIMM23-
-
-
-
3GainND
TIMM23B-
-
-
-
3GainND
TKTL2p.R24Q
Missense
SNP
0.477
2-ND
TLE2p.S250Qfs*30
Frame_Shift_Ins
INS
0.303
2-ND
TLL2-
-
-
-
3GainND
TLN2p.V1160M
p.E2318K
Missense
Missense
SNP
SNP
0.524
0.530
2-ND
TLX1-
-
-
-
3GainND
TM6SF2p.A201T
p.A107V
Missense
Missense
SNP
SNP
0.575
0.547
2-ND
TM9SF3-
-
-
-
3GainND
TMED3p.V153I
Missense
SNP
0.533
2-ND
TMEM131p.D1577G
Missense
SNP
0.523
2-ND
TMEM150C-
-
-
-
1LossND
TMEM155p.S121Ifs*44
Frame_Shift_Del
DEL
0.390
2-ND
TMEM168p.R258C
Missense
SNP
0.375
2-ND
TMEM169p.T164M
Missense
SNP
0.450
2-ND
TMEM181p.F186L
p.G452R
Missense
Missense
SNP
SNP
0.614
0.119
2-ND
TMEM200Cp.P21Qfs*22
Frame_Shift_Del
DEL
0.304
3GainND
TMEM231p.S275N
Missense
SNP
0.567
2-ND
TMEM236-
-
-
-
3GainND
TMEM239p.G136S
Missense
SNP
0.423
2-ND
TMEM241-
-
-
-
3GainND
TMEM249p.A213T
Missense
SNP
0.206
2-ND
TMEM254-
-
-
-
3GainND
TMEM26-
-
-
-
3GainND
TMEM273-
-
-
-
3GainND
TMEM72-
-
-
-
3GainND
TMEM92p.Y120Tfs*4
Frame_Shift_Del
DEL
0.526
2-ND
TMTC2p.Q829Tfs*7
Frame_Shift_Ins
INS
0.299
2-ND
TMX3-
-
-
-
3GainND
TNFAIP3p.P457Lfs*20
Frame_Shift_Del
DEL
0.230
2-ND
TNFRSF11Ap.P432L
Missense
SNP
0.680
3GainND
TNKS2-
-
-
-
3GainND
TNRC18p.A832P
Missense
SNP
0.615
2-ND
TNRC6Cp.N615Mfs*45
Frame_Shift_Del
DEL
0.489
2-ND
TNS1p.R1198Q
Missense
SNP
0.510
2-ND
TOP2Ap.T1205Hfs*19
Frame_Shift_Del
DEL
0.164
2-ND
TPGS2-
-
-
-
3GainND
TRAF2p.R486W
Missense
SNP
0.486
2-ND
TRAF3IP2p.P556Lfs*38
Frame_Shift_Del
DEL
0.220
2-ND
TRAPPC8-
-
-
-
3GainND
TRDMT1-
-
-
-
3GainND
TRDNp.A435V
Missense
SNP
0.108
2-ND
TRIM10p.R429W
Missense
SNP
0.131
2-ND
TRIM28p.R470W
Missense
SNP
0.467
2-ND
TRIM3p.S74L
Missense
SNP
0.500
2-ND
TRIM36p.R44H
Missense
SNP
0.546
2-ND
TRIM73p.R52C
Missense
SNP
0.132
2-ND
TRIM8-
-
-
-
3GainND
TRIOp.R558C
p.L1071P
Missense
Missense
SNP
SNP
0.508
0.553
2-ND
TRIOBPp.R2039W
Missense
SNP
0.485
2-ND
TRIP12p.X378_splice
Splice_Site
SNP
0.404
2-ND
TRMT5p.R432W
Missense
SNP
0.484
2-ND
TRPM2p.A1278T
Missense
SNP
0.462
2-ND
TRPM3p.T944M
Missense
SNP
0.491
2-ND
TRUB1-
-
-
-
3GainND
TSHZ1-
-
-
-
3GainND
TSHZ3p.A211Pfs*19
Frame_Shift_Del
DEL
0.215
2-ND
TSPAN14-
-
-
-
3GainND
TSPAN15-
-
-
-
3GainND
TSPAN5p.A192T
Missense
SNP
0.304
2-ND
TSPEARp.R67Afs*3
Frame_Shift_Del
DEL
0.456
2-ND
TSR3p.A294Lfs*28
Frame_Shift_Del
DEL
0.442
2-ND
TTC14p.R459C
Missense
SNP
0.647
2-ND
TTC16p.R86H
Missense
SNP
0.420
2-ND
TTC30Ap.M601Dfs*5
Frame_Shift_Del
DEL
0.452
2-ND
TTC37p.Y827*
Nonsense
SNP
0.435
2-ND
TTC39Cp.A444V
Missense
SNP
0.680
3GainND
TTC6p.L540Sfs*19
p.R923H
Frame_Shift_Del
Missense
DEL
SNP
0.512
0.379
2-ND
TTC7Ap.T733M
Missense
SNP
0.542
2-ND
TTNp.P13097Lfs*12
p.K9807Rfs*5
p.R30448C
p.R13727H
p.G5061S
Frame_Shift_Del
Frame_Shift_Del
Missense
Missense
Missense
DEL
DEL
SNP
SNP
SNP
0.409
0.700
0.183
0.457
0.428
2-ND
TTR-
-
-
-
3GainND
TUBAL3-
-
-
-
3GainND
TUBB6-
-
-
-
3GainND
TUBB8-
-
-
-
3GainND
TUBGCP2-
-
-
-
3GainND
TUBGCP6p.P1371H
p.R793C
Missense
Missense
SNP
SNP
0.431
0.569
2-ND
TVP23Ap.F140Lfs*7
Frame_Shift_Del
DEL
0.496
2-ND
TWNK-
-
-
-
3GainND
TWSG1-
-
-
-
3GainND
TXNDC2-
-
-
-
3GainND
TXNL1-
-
-
-
3GainND
TXNL4Ap.G128S
Missense
SNP
0.350
3GainND
TYMS-
-
-
-
3GainND
TYSND1-
-
-
-
3GainND
TYW1p.W154*
Nonsense
SNP
0.491
2-ND
UBA2p.A380T
Missense
SNP
0.450
2-ND
UBE2D1-
-
-
-
3GainND
UBR4p.R142*
Nonsense
SNP
0.487
2-ND
UBTD1-
-
-
-
3GainND
UCMA-
-
-
-
3GainND
UCN3-
-
-
-
3GainND
UGT1A8p.P264T
Missense
SNP
0.532
2-ND
UGT2A1-
-
-
-
1LossND
UGT2A2-
-
-
-
1LossND
UGT2A3-
-
-
-
1LossND
UGT2B10-
-
-
-
1LossND
UGT2B11-
-
-
-
1LossND
UGT2B15-
-
-
-
1LossND
UGT2B17-
-
-
-
1LossND
UGT2B28-
-
-
-
1LossND
UGT2B4-
-
-
-
1LossND
UGT2B7-
-
-
-
1LossND
ULK1p.V566I
Missense
SNP
0.237
2-ND
UNC13Ap.R1566W
p.R39W
Missense
Missense
SNP
SNP
0.390
0.527
2-ND
UNC5B-
-
-
-
3GainND
UNKp.R123H
Missense
SNP
0.481
2-ND
UPF2-
-
-
-
3GainND
UPF3Ap.E267Rfs*13
Frame_Shift_Del
DEL
0.455
2-ND
UROSp.F196Lfs*44
Frame_Shift_Del
DEL
0.149
3GainND
USH2Ap.R310Q
Missense
SNP
0.593
2-ND
USO1-
-
-
-
1LossND
USP1p.N662Mfs*2
Frame_Shift_Del
DEL
0.235
2-ND
USP11p.L338F
Missense
SNP
0.167
NDNDND
USP14-
-
-
-
3GainND
USP2p.X413_splice
Splice_Site
INS
0.279
2-ND
USP40p.Q1160Tfs*20
Frame_Shift_Ins
INS
0.227
2-ND
USP54-
-
-
-
3GainND
USP6NL-
-
-
-
3GainND
USP9Xp.E2102K
Missense
SNP
0.493
NDNDND
UTF1-
-
-
-
3GainND
UTP15p.L425*
Frame_Shift_Del
DEL
0.497
2-ND
VAPA-
-
-
-
3GainND
VAX1-
-
-
-
3GainND
VCANp.W1619*
Nonsense
SNP
0.483
2-ND
VCLp.R230C
Missense
SNP
0.171
3GainND
VCPp.N616Cfs*11
Frame_Shift_Del
DEL
0.419
2-ND
VDAC2-
-
-
-
3GainND
VENTX-
-
-
-
3GainND
VEZF1p.V470I
Missense
SNP
0.421
2-ND
VIM-
-
-
-
3GainND
VN1R2p.P360S
Missense
SNP
0.244
2-ND
VPS13Ap.I1709Nfs*6
p.R161H
Frame_Shift_Ins
Missense
INS
SNP
0.276
0.507
2-ND
VPS16p.R321H
Missense
SNP
0.580
2-ND
VPS18p.A889V
Missense
SNP
0.536
2-ND
VPS26A-
-
-
-
3GainND
VPS35p.S179Y
Missense
SNP
0.593
2-ND
VPS4B-
-
-
-
3GainND
VPS51p.V609M
Missense
SNP
0.542
2-ND
VPS8p.Q877H
Missense
SNP
0.571
2-ND
VSIG10Lp.V263Ffs*72
Frame_Shift_Del
DEL
0.236
2-ND
VSIR-
-
-
-
3GainND
VSTM4-
-
-
-
3GainND
VSX2p.A52V
Missense
SNP
0.514
2-ND
VTI1A-
-
-
-
3GainND
VWA2p.R591W
Missense
SNP
0.144
3GainND
WAC-
-
-
-
3GainND
WAPL-
-
-
-
3GainND
WASHC2A-
-
-
-
3GainND
WASHC2C-
-
-
-
3GainND
WBP11p.G521Wfs*28
Frame_Shift_Ins
INS
0.276
2-ND
WBP1L-
-
-
-
3GainND
WDFY3p.L1060Cfs*41
Frame_Shift_Del
DEL
0.360
1LossND
WDFY4-
-
-
-
3GainND
WDR11-
-
-
-
3GainND
WDR37-
-
-
-
3GainND
WDR47p.V693I
Missense
SNP
0.429
2-ND
WDR7-
-
-
-
3GainND
WDR78p.K30Rfs*28
Frame_Shift_Del
DEL
0.245
2-ND
WDR93p.P446T
Missense
SNP
0.320
2-ND
WDTC1p.E290Tfs*6
p.V621M
Frame_Shift_Del
Missense
DEL
SNP
0.281
0.563
2-ND
WFDC3p.R66*
Nonsense
SNP
0.476
2-ND
WISP1p.R161C
Missense
SNP
0.430
2-ND
WISP3p.K226Nfs*24
Frame_Shift_Del
DEL
0.507
2-ND
WIZp.R234W
Missense
SNP
0.456
2-ND
WNK1p.P743T
Missense
SNP
0.442
2-ND
WNK3p.S649P
p.A403S
Missense
Missense
SNP
SNP
0.191
0.474
NDNDND
WNT2p.S95N
Missense
SNP
0.257
2-ND
WNT4p.K107Q
Missense
SNP
0.433
2-ND
WNT6p.D289N
Missense
SNP
0.557
2-ND
WNT8B-
-
-
-
3GainND
WSCD1p.R76Q
Missense
SNP
0.507
2-ND
WWC2p.M206Cfs*17
p.R380Q
Frame_Shift_Del
Missense
DEL
SNP
0.396
0.513
2-ND
XIRP2p.N1589T
Missense
SNP
0.504
2-ND
XPNPEP1-
-
-
-
3GainND
YES1-
-
-
-
3GainND
YLPM1p.G1063D
Missense
SNP
0.488
2-ND
YME1L1-
-
-
-
3GainND
ZADH2-
-
-
-
3GainND
ZBTB1p.K524Sfs*25
Frame_Shift_Del
DEL
0.444
2-ND
ZBTB14p.R30H
Missense
SNP
0.243
3GainND
ZBTB38p.R917C
Missense
SNP
0.581
2-ND
ZBTB4p.A958V
Missense
SNP
0.168
2-ND
ZBTB46p.G517D
p.R463C
Missense
Missense
SNP
SNP
0.200
0.153
2-ND
ZBTB7Ap.A559V
Missense
SNP
0.617
2-ND
ZBTB7C-
-
-
-
3GainND
ZC3H12Cp.A786T
Missense
SNP
0.256
2-ND
ZCCHC2-
-
-
-
3GainND
ZCCHC24-
-
-
-
3GainND
ZCRB1p.K140Rfs*13
Frame_Shift_Del
DEL
0.415
2-ND
ZDHHC16-
-
-
-
3GainND
ZDHHC18p.P367L
Missense
SNP
0.468
2-ND
ZDHHC5p.L657S
Missense
SNP
0.507
2-ND
ZDHHC6-
-
-
-
3GainND
ZEB1-
-
-
-
3GainND
ZFAND4-
-
-
-
3GainND
ZFHX3p.A3449V
p.G17S
Missense
Missense
SNP
SNP
0.249
0.406
2-ND
ZFHX4p.L411Cfs*4
p.P2057Hfs*26
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.517
0.273
2-ND
ZFP36L2p.A229Rfs*245
p.G144Afs*43
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.270
0.465
2-ND
ZFYVE27-
-
-
-
3GainND
ZKSCAN2p.A166V
Missense
SNP
0.577
2-ND
ZMIZ1-
-
-
-
3GainND
ZMYM3p.L85Afs*4
Frame_Shift_Ins
INS
0.336
NDNDND
ZMYM6p.N724Mfs*15
Frame_Shift_Del
DEL
0.423
2-ND
ZMYND11-
-
-
-
3GainND
ZMYND8p.K655Sfs*14
Frame_Shift_Del
DEL
0.528
2-ND
ZNF134p.E208K
Missense
SNP
0.362
2-ND
ZNF14p.R547*
Nonsense
SNP
0.229
2-ND
ZNF157p.K53N
Missense
SNP
0.459
NDNDND
ZNF169p.K260M
Missense
SNP
0.188
2-ND
ZNF205p.A493V
Missense
SNP
0.515
2-ND
ZNF215p.R396*
Nonsense
SNP
0.268
2-ND
ZNF22-
-
-
-
3GainND
ZNF236-
-
-
-
3GainND
ZNF239-
-
-
-
3GainND
ZNF24-
-
-
-
3GainND
ZNF248-
-
-
-
3GainND
ZNF25-
-
-
-
3GainND
ZNF3p.T99Rfs*4
Frame_Shift_Del
DEL
0.463
2-ND
ZNF32-
-
-
-
3GainND
ZNF33A-
-
-
-
3GainND
ZNF33B-
-
-
-
3GainND
ZNF365-
-
-
-
3GainND
ZNF37A-
-
-
-
3GainND
ZNF384p.P517S
Missense
SNP
0.382
2-ND
ZNF396-
-
-
-
3GainND
ZNF397-
-
-
-
3GainND
ZNF407-
-
-
-
3GainND
ZNF438-
-
-
-
3GainND
ZNF441p.P418S
Missense
SNP
0.489
2-ND
ZNF460p.P447L
Missense
SNP
0.385
2-ND
ZNF485-
-
-
-
3GainND
ZNF487-
-
-
-
3GainND
ZNF488-
-
-
-
3GainND
ZNF503-
-
-
-
3GainND
ZNF511-
-
-
-
3GainND
ZNF511-PRAP1-
-
-
-
3GainND
ZNF513p.R489H
Missense
SNP
0.188
2-ND
ZNF516-
-
-
-
3GainND
ZNF518A-
-
-
-
3GainND
ZNF519-
-
-
-
3GainND
ZNF521-
-
-
-
3GainND
ZNF527p.A20V
Missense
SNP
0.268
2-ND
ZNF532p.R421Gfs*9
Frame_Shift_Del
DEL
0.559
3GainND
ZNF549p.G97V
Missense
SNP
0.132
2-ND
ZNF552p.S172N
Missense
SNP
0.454
2-ND
ZNF567p.H253Tfs*5
Frame_Shift_Ins
INS
0.303
2-ND
ZNF615p.G361R
Missense
SNP
0.506
2-ND
ZNF616p.T209Rfs*8
Frame_Shift_Del
DEL
0.400
2-ND
ZNF628p.P325L
Missense
SNP
0.326
2-ND
ZNF687p.E930del
In_Frame_Del
DEL
0.560
2-ND
ZNF703p.A472T
Missense
SNP
0.504
2-ND
ZNF71p.R107H
Missense
SNP
0.566
2-ND
ZNF710p.R386C
Missense
SNP
0.537
2-ND
ZNF717p.K511N
Missense
SNP
0.116
2-ND
ZNF74p.A447T
Missense
SNP
0.471
2-ND
ZNF777p.R566C
Missense
SNP
0.442
2-ND
ZNF786p.R377C
Missense
SNP
0.432
2-ND
ZNF792p.T222I
Missense
SNP
0.492
2-ND
ZNF813p.S108N
Missense
SNP
0.498
2-ND
ZNF814p.K350Nfs*121
Frame_Shift_Del
DEL
0.261
2-ND
ZNF865p.A462T
p.S672L
Missense
Missense
SNP
SNP
0.386
0.467
2-ND
ZNF880p.A332T
Missense
SNP
0.467
2-ND
ZRANB1-
-
-
-
3GainND
ZSCAN30-
-
-
-
3GainND
ZSWIM4p.R679Q
Missense
SNP
0.547
2-ND
ZSWIM8-
-
-
-
3GainND
ZW10p.R762C
Missense
SNP
0.304
2-ND
ZWINT-
-
-
-
3GainND