PDMR-825966~067-R~U7CP02-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2ML1p.Y1438C
Missense
SNP
0.601
2-ND
A4GNTp.F23L
Missense
SNP
0.506
2-ND
AARD-
-
-
-
3GainND
ABCA1-
-
-
-
4GainND
ABCA10p.X1512_splice
Splice_Site
SNP
0.474
2-ND
ABCA13p.L2276*
p.L4357V
Frame_Shift_Del
Missense
DEL
SNP
0.628
0.460
2-ND
ABCA2-
-
-
-
5AmpND
ABCA4p.G1803C
Missense
SNP
0.481
2-ND
ABCA7p.R825W
Missense
SNP
0.530
2-ND
ABCB11p.G1011V
Missense
SNP
0.429
2-ND
ABCB4p.A531Pfs*27
Frame_Shift_Del
DEL
0.472
2-ND
ABCC12p.S494*
Nonsense
SNP
0.474
2-ND
ABCF1p.T40Rfs*8
Frame_Shift_Del
DEL
0.419
2-ND
ABHD16Bp.V282A
Missense
SNP
0.451
2-ND
ABHD17Ap.C191R
Missense
SNP
0.517
2-ND
ABHD17B-
-
-
-
4GainND
ABHD18p.L342*
Frame_Shift_Del
DEL
0.470
2-ND
ABL1p.I422Hfs*42
Frame_Shift_Ins
INS
0.327
5AmpND
ABO-
-
-
-
5AmpND
AC004754.1-
-
-
-
1LossND
AC100868.1-
-
-
-
3GainND
AC138647.1-
-
-
-
3GainND
AC138696.1-
-
-
-
3GainND
ACER2-
-
-
-
3GainND
ACO1-
-
-
-
3GainND
ACP1p.A45T
Missense
SNP
0.486
2-ND
ACTL7A-
-
-
-
4GainND
ACTL7B-
-
-
-
4GainND
ACTN1p.D2Y
Missense
SNP
0.478
2-ND
ACTRT2p.S159N
Missense
SNP
0.549
2-ND
ACVR2Ap.K437Rfs*5
Frame_Shift_Del
DEL
0.936
2-ND
ACY3p.P260S
Missense
SNP
0.502
2-ND
ADAM11p.F146S
Missense
SNP
0.432
2-ND
ADAM21p.L684Cfs*3
Frame_Shift_Del
DEL
0.450
2-ND
ADAM33p.H128Pfs*34
Frame_Shift_Ins
INS
0.331
2-ND
ADAMDEC1p.K341Rfs*7
Frame_Shift_Del
DEL
0.460
2-ND
ADAMTS12p.H928Y
Missense
SNP
0.500
2-ND
ADAMTS13-
-
-
-
5AmpND
ADAMTS16p.H380R
Missense
SNP
0.489
2-ND
ADAMTS19p.N949Kfs*8
Frame_Shift_Ins
INS
0.333
2-ND
ADAMTSL1-
-
-
-
3GainND
ADAMTSL2-
-
-
-
5AmpND
ADAMTSL3p.R1291I
Missense
SNP
0.470
2-ND
ADCK5-
-
-
-
3GainND
ADCY1p.R835C
Missense
SNP
0.438
2-ND
ADCY2p.R30Q
p.A694V
Missense
Missense
SNP
SNP
0.549
0.533
2-ND
ADCY8-
-
-
-
3GainND
ADGRB1p.E1549G
Missense
SNP
0.649
3GainND
ADGRD2-
-
-
-
5AmpND
ADGRL1p.V292M
Missense
SNP
0.507
2-ND
ADGRV1p.Q1275H
Missense
SNP
0.504
2-ND
ADNPp.I22Nfs*3
Frame_Shift_Ins
INS
0.326
2-ND
ADNP2p.G966Vfs*3
Frame_Shift_Del
DEL
0.973
2-ND
ADORA2Ap.A265S
Missense
SNP
0.489
2-ND
AFAP1L2p.A574T
Missense
SNP
0.519
2-ND
AGBL5p.K423Qfs*28
Frame_Shift_Ins
INS
0.272
2-ND
AGKp.P57S
Missense
SNP
0.470
2-ND
AGO2-
-
-
-
3GainND
AGPAT2-
-
-
-
5AmpND
AGTp.T20N
Missense
SNP
0.493
2-ND
AGTPBP1-
-
-
-
4GainND
AGTR2p.F134Lfs*5
Frame_Shift_Del
DEL
0.929
NDNDND
AIF1L-
-
-
-
5AmpND
AIFM1p.G103W
Missense
SNP
1.000
NDNDND
AIM1p.R1310*
Nonsense
SNP
0.487
NDNDND
AIM1Lp.G1484Afs*27
Frame_Shift_Del
DEL
0.370
NDNDND
AJM1-
-
-
-
5AmpND
AK1-
-
-
-
5AmpND
AK3-
-
-
-
3GainND
AK8-
-
-
-
5AmpND
AKAP2-
-
-
-
4GainND
AKAP7p.G186del
In_Frame_Del
DEL
0.409
2-ND
AKNAp.G792Efs*49
Frame_Shift_Del
DEL
0.478
4GainND
AKR1B1p.R269H
Missense
SNP
0.474
2-ND
AKT3p.R220H
Missense
SNP
0.470
2-ND
AL133410.3-
-
-
-
3GainND
AL138752.2-
-
-
-
3GainND
AL157935.2-
-
-
-
5AmpND
AL160269.1-
-
-
-
4GainND
AL160272.2-
-
-
-
4GainND
AL162231.1-
-
-
-
3GainND
AL162231.3-
-
-
-
3GainND
AL162417.1-
-
-
-
5AmpND
AL355987.1-
-
-
-
5AmpND
AL355987.3-
-
-
-
5AmpND
AL358113.1-
-
-
-
4GainND
AL359922.1-
-
-
-
3GainND
AL513165.2-
-
-
-
3GainND
AL672142.1-
-
-
-
5AmpND
AL807752.6-
-
-
-
5AmpND
AL807752.7-
-
-
-
5AmpND
AL929554.1-
-
-
-
5AmpND
ALAD-
-
-
-
4GainND
ALAS1p.R465W
Missense
SNP
0.474
2-ND
ALDH1A1-
-
-
-
4GainND
ALDH1A3p.R93W
Missense
SNP
0.465
2-ND
ALDH1B1-
-
-
-
3GainND
ALDOB-
-
-
-
4GainND
ALG11p.Y18Ifs*35
Frame_Shift_Del
DEL
0.500
2-ND
ALG2-
-
-
-
4GainND
ALKBH1p.T266Rfs*11
Frame_Shift_Del
DEL
0.445
2-ND
ALKBH8p.K602T
Missense
SNP
0.466
2-ND
ALOX5p.M460I
Missense
SNP
0.536
2-ND
ALS2p.L625*
Frame_Shift_Del
DEL
0.527
2-ND
AMBP-
-
-
-
4GainND
AMY1A-
-
-
-
1LossND
AMY1B-
-
-
-
1LossND
AMY1C-
-
-
-
1LossND
AMY2A-
-
-
-
1LossND
AMY2B-
-
-
-
1LossND
AMZ1p.I160M
Missense
SNP
0.548
2-ND
ANAPC2-
-
-
-
5AmpND
ANGPTL2-
-
-
-
5AmpND
ANKARp.A1274D
Missense
SNP
0.355
2-ND
ANKEF1p.M260V
Missense
SNP
0.532
2-ND
ANKRD18A-
-
-
-
3GainND
ANKRD18B-
-
-
-
3GainND
ANKRD27p.I94T
Missense
SNP
0.462
2-ND
ANKRD49p.M70Wfs*32
Frame_Shift_Del
DEL
0.431
2-ND
ANKRD52p.L708del
In_Frame_Del
DEL
0.466
2-ND
ANKRD53p.S422G
Missense
SNP
0.411
2-ND
ANKS6-
-
-
-
4GainND
ANKZF1p.P353H
Missense
SNP
0.451
2-ND
ANO2p.P131L
Missense
SNP
0.540
2-ND
ANO3p.Y900N
Missense
SNP
0.437
2-ND
ANO5p.D157V
Missense
SNP
0.503
2-ND
ANO8p.T643A
Missense
SNP
0.421
2-ND
ANP32B-
-
-
-
4GainND
ANXA1-
-
-
-
4GainND
ANXA13-
-
-
-
3GainND
ANXA2p.Y42H
Missense
SNP
0.549
2-ND
AOAHp.S155I
Missense
SNP
0.506
2-ND
AOC3p.C41R
Missense
SNP
0.480
2-ND
AP2B1p.A785V
Missense
SNP
0.553
2-ND
AP3B1-
-
-
-
1LossND
AP3M2p.L323P
Missense
SNP
0.579
2-ND
APBA1-
-
-
-
4GainND
APBA2p.P630A
Missense
SNP
0.521
2-ND
APC2p.L1016Pfs*74
Frame_Shift_Ins
INS
0.334
2-ND
APOEp.V65A
Missense
SNP
0.379
2-ND
APTX-
-
-
-
3GainND
AQP1p.M96I
Missense
SNP
0.465
2-ND
AQP3-
-
-
-
3GainND
AQP7-
-
-
-
3GainND
ARC-
-
-
-
3GainND
AREGp.C252Vfs*31
Frame_Shift_Del
DEL
0.491
2-ND
ARFGEF3p.E1459D
Missense
SNP
0.446
2-ND
ARHGAP15p.Q382R
Missense
SNP
0.534
2-ND
ARHGAP29p.S882A
Missense
SNP
0.442
2-ND
ARHGAP30p.A675T
Missense
SNP
0.443
2-ND
ARHGAP39-
-
-
-
3GainND
ARHGAP44p.R483C
Missense
SNP
0.570
2-ND
ARHGAP5p.F892Lfs*9
Frame_Shift_Del
DEL
0.462
2-ND
ARHGDIG-
-
-
-
1LossND
ARHGEF39-
-
-
-
3GainND
ARHGEF9p.R137M
Missense
SNP
1.000
NDNDND
ARID1Ap.L1176Ifs*17
Frame_Shift_Ins
INS
0.287
2-ND
ARID3C-
-
-
-
3GainND
ARID4Bp.T939Rfs*2
Frame_Shift_Del
DEL
0.519
2-ND
ARMS2-
-
-
-
1LossND
ARPC1Bp.R94Q
Missense
SNP
0.466
2-ND
ARPC5L-
-
-
-
5AmpND
ARRB2p.P90Rfs*17
Frame_Shift_Del
DEL
0.438
2-ND
ARRDC1-
-
-
-
5AmpND
ARSDp.Q117R
Missense
SNP
1.000
NDNDND
ARTNp.E46D
Missense
SNP
0.500
2-ND
ASAP1-
-
-
-
3GainND
ASAP2p.Q818*
Nonsense
SNP
0.472
2-ND
ASB6-
-
-
-
5AmpND
ASCC3p.R1762C
Missense
SNP
0.417
2-ND
ASCL4p.V143A
Missense
SNP
0.500
2-ND
ASPN-
-
-
-
4GainND
ASS1-
-
-
-
5AmpND
ASTN2-
-
-
-
4GainND
ATAD2-
-
-
-
3GainND
ATF5p.P131L
Missense
SNP
0.707
2-ND
ATG2Bp.G1924V
p.S379F
Missense
Missense
SNP
SNP
0.564
0.569
2-ND
ATG4Dp.R213W
Missense
SNP
0.072
2-ND
ATHL1p.P185Qfs*3
Frame_Shift_Del
DEL
0.508
NDNDND
ATP10Ap.T1281M
p.X283_splice
Missense
Splice_Site
SNP
SNP
0.438
0.542
2-ND
ATP12Ap.R496C
Missense
SNP
0.464
2-ND
ATP2A3p.A374V
Missense
SNP
0.467
2-ND
ATP2C2p.V810A
Missense
SNP
0.479
2-ND
ATP6AP1Lp.G133Dfs*18
Frame_Shift_Del
DEL
0.485
2-ND
ATP6V1C1p.D49Y
Missense
SNP
0.481
2-ND
ATP6V1G1-
-
-
-
4GainND
ATP7Bp.X1341_splice
Splice_Site
SNP
0.495
2-ND
ATP8B1p.N205Kfs*2
Frame_Shift_Ins
INS
0.429
2-ND
ATXN1p.F651Lfs*40
p.Q208del
Frame_Shift_Del
In_Frame_Del
DEL
DEL
0.292
0.534
2-ND
AUH-
-
-
-
4GainND
AUTS2p.V97A
Missense
SNP
0.529
2-ND
AXDND1p.E994Q
Missense
SNP
0.467
2-ND
AXIN1p.V835Wfs*103
Frame_Shift_Del
DEL
0.984
1LossND
B3GLCTp.S80Afs*3
Frame_Shift_Del
DEL
0.515
2-ND
B4GALNT4p.R307Vfs*100
Frame_Shift_Del
DEL
0.461
2-ND
B4GALT1-
-
-
-
3GainND
BAATp.M1?
Frame_Shift_Del
DEL
0.237
4GainND
BACE2p.P102Rfs*25
Frame_Shift_Del
DEL
0.317
2-ND
BAG1-
-
-
-
3GainND
BAHCC1p.A553V
p.L2483R
Missense
Missense
SNP
SNP
0.529
0.439
2-ND
BAHD1p.R678H
Missense
SNP
0.500
2-ND
BARHL1-
-
-
-
5AmpND
BARX1-
-
-
-
4GainND
BAXp.E41Gfs*20
Frame_Shift_Ins
INS
0.238
2-ND
BAZ1Ap.L1455*
Frame_Shift_Del
DEL
0.435
2-ND
BCAMp.R207H
Missense
SNP
0.594
2-ND
BCL11Ap.S767N
p.Q371R
Missense
Missense
SNP
SNP
0.549
0.545
2-ND
BCL6Bp.Y275Lfs*16
Frame_Shift_Ins
INS
0.350
2-ND
BCL9Lp.P1128Tfs*42
Frame_Shift_Ins
INS
0.292
2-ND
BEAN1p.H77R
Missense
SNP
0.503
2-ND
BEND4p.G91Afs*23
Frame_Shift_Del
DEL
0.388
2-ND
BICD2-
-
-
-
4GainND
BMP2Kp.Q486H
Missense
SNP
0.094
2-ND
BMPR2p.K457Nfs*17
p.N583Tfs*44
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.457
0.493
2-ND
BNC2-
-
-
-
3GainND
BNIP1p.F76Lfs*3
Frame_Shift_Del
DEL
0.442
2-ND
BOP1p.N634del
In_Frame_Del
DEL
0.281
3GainND
BPIFB4p.P73Qfs*160
Frame_Shift_Del
DEL
0.432
2-ND
BRAFp.V600E
Missense
SNP
0.342
2-ND
BRAPp.D523Ifs*79
Frame_Shift_Del
DEL
0.439
2-ND
BRCA2p.V1862*
Frame_Shift_Del
DEL
0.515
2-ND
BRD2p.L357*
Frame_Shift_Del
DEL
0.438
2-ND
BRD3-
-
-
-
5AmpND
BRINP1-
-
-
-
4GainND
BRSK1p.R138C
Missense
SNP
0.473
2-ND
BRWD1p.T1816Pfs*4
p.K2148T
Frame_Shift_Del
Missense
DEL
SNP
0.386
0.576
2-ND
BRWD3p.R1707Efs*12
Frame_Shift_Ins
INS
0.451
NDNDND
BSCL2p.G325Afs*75
Frame_Shift_Del
DEL
0.460
2-ND
BSDC1p.G94W
Missense
SNP
0.418
2-ND
BSNp.R489S
Missense
SNP
0.671
2-ND
BSPRY-
-
-
-
4GainND
BTBD16-
-
-
-
1LossND
BTBD7p.N566Mfs*22
p.Y324Ifs*22
Frame_Shift_Del
Frame_Shift_Ins
DEL
INS
0.478
0.306
2-ND
BUB1p.A714V
Missense
SNP
0.534
2-ND
BVESp.L228Ffs*20
Frame_Shift_Ins
INS
0.315
2-ND
C11orf57p.K161Sfs*20
Frame_Shift_Del
DEL
0.406
NDNDND
C12orf66p.A248V
Missense
SNP
0.560
2-ND
C14orf159p.X482_splice
Splice_Site
SNP
0.401
NDNDND
C16orf62p.X876_splice
Splice_Site
SNP
0.414
NDNDND
C17orf75p.L155*
Frame_Shift_Del
DEL
0.523
2-ND
C17orf97p.D238N
Missense
SNP
0.415
2-ND
C19orf68p.R318H
Missense
SNP
0.400
NDNDND
C1orf141p.D10A
Missense
SNP
0.554
2-ND
C1orf43p.D83del
In_Frame_Del
DEL
0.283
2-ND
C21orf59p.G180V
Missense
SNP
0.429
NDNDND
C22orf31p.Q117R
Missense
SNP
0.484
2-ND
C2orf42p.K410Nfs*38
Frame_Shift_Del
DEL
0.331
2-ND
C2orf71p.R1047*
Nonsense
SNP
0.488
NDNDND
C2orf78p.A474V
Missense
SNP
0.430
2-ND
C5-
-
-
-
4GainND
C5orf42p.Y607Tfs*6
Frame_Shift_Del
DEL
0.419
NDNDND
C6orf132p.P277Rfs*240
Frame_Shift_Del
DEL
0.489
2-ND
C6orf89p.Q61Afs*10
Frame_Shift_Ins
INS
0.277
2-ND
C8G-
-
-
-
5AmpND
C8orf33-
-
-
-
3GainND
C8orf76-
-
-
-
3GainND
C8orf82-
-
-
-
3GainND
C9orf116-
-
-
-
5AmpND
C9orf129-
-
-
-
4GainND
C9orf131-
-
-
-
3GainND
C9orf135-
-
-
-
4GainND
C9orf152-
-
-
-
4GainND
C9orf153-
-
-
-
4GainND
C9orf16-
-
-
-
5AmpND
C9orf24-
-
-
-
3GainND
C9orf3-
-
-
-
4GainND
C9orf40-
-
-
-
4GainND
C9orf43-
-
-
-
4GainND
C9orf50-
-
-
-
5AmpND
C9orf57-
-
-
-
4GainND
C9orf64-
-
-
-
4GainND
C9orf66-
-
-
-
3GainND
C9orf72-
-
-
-
3GainND
C9orf78-
-
-
-
5AmpND
C9orf84-
-
-
-
4GainND
C9orf85-
-
-
-
4GainND
C9orf92-
-
-
-
3GainND
CA9-
-
-
-
3GainND
CAAP1p.D265N
Missense
SNP
0.256
3GainND
CACFD1-
-
-
-
5AmpND
CACNA1Ap.L343Sfs*10
Frame_Shift_Del
DEL
0.430
2-ND
CACNA1Bp.F1309Sfs*48
Frame_Shift_Del
DEL
0.206
5AmpND
CACNA1Cp.G2071V
Missense
SNP
0.514
2-ND
CACNA1Dp.L1536M
Missense
SNP
0.541
2-ND
CACNA1Fp.C1151Y
Missense
SNP
1.000
NDNDND
CACNA1Gp.G2232Wfs*33
p.V96M
Frame_Shift_Ins
Missense
INS
SNP
0.323
0.513
2-ND
CACNA1Ip.H1091Mfs*43
Frame_Shift_Del
DEL
0.399
2-ND
CALHM2p.T32A
Missense
SNP
0.449
2-ND
CALYp.D167Y
Missense
SNP
0.430
2-ND
CAMSAP1-
-
-
-
5AmpND
CAMTA1p.K1589Nfs*33
p.A810V
Frame_Shift_Del
Missense
DEL
SNP
0.473
0.444
2-ND
CAPN2p.Y482H
Missense
SNP
0.420
2-ND
CAPN3p.G308C
Missense
SNP
0.475
2-ND
CAPN9p.Q27K
Missense
SNP
0.542
2-ND
CAPSp.M90Cfs*24
Frame_Shift_Del
DEL
0.355
2-ND
CAPZBp.R44C
Missense
SNP
0.513
2-ND
CARD11p.Q288H
Missense
SNP
0.450
2-ND
CARD19-
-
-
-
4GainND
CARD9-
-
-
-
5AmpND
CARFp.T716Lfs*25
Frame_Shift_Del
DEL
0.404
2-ND
CARMIL3p.E269K
Missense
SNP
0.489
2-ND
CARNMT1-
-
-
-
4GainND
CASD1-
-
-
-
1LossND
CASZ1p.A806T
Missense
SNP
0.460
2-ND
CAVIN4-
-
-
-
4GainND
CBLp.P828L
Missense
SNP
0.543
2-ND
CBLBp.R412H
Missense
SNP
0.592
2-ND
CBLCp.L230P
Missense
SNP
0.536
2-ND
CBWD1-
-
-
-
3GainND
CBWD3-
-
-
-
3GainND
CBWD5-
-
-
-
3GainND
CBWD6-
-
-
-
3GainND
CBX4p.X83_splice
Splice_Site
SNP
0.575
2-ND
CC2D1Ap.G303Vfs*131
Frame_Shift_Del
DEL
0.492
2-ND
CCDC107-
-
-
-
3GainND
CCDC114p.G564D
p.R90Q
Missense
Missense
SNP
SNP
0.494
0.443
2-ND
CCDC166-
-
-
-
3GainND
CCDC168p.F7017Lfs*25
Frame_Shift_Del
DEL
0.899
2-ND
CCDC171-
-
-
-
3GainND
CCDC180-
-
-
-
4GainND
CCDC183-
-
-
-
5AmpND
CCDC22p.L188P
Missense
SNP
0.986
NDNDND
CCDC88Bp.X1311_splice
Splice_Site
SNP
0.497
2-ND
CCDC93p.K571E
p.Q415L
Missense
Missense
SNP
SNP
0.500
0.524
2-ND
CCIN-
-
-
-
3GainND
CCL19-
-
-
-
3GainND
CCL21-
-
-
-
3GainND
CCL27-
-
-
-
3GainND
CCND3p.R271Pfs*53
Frame_Shift_Ins
INS
0.050
2-ND
CCNHp.A216V
Missense
SNP
0.413
2-ND
CCNKp.K112Nfs*13
Frame_Shift_Del
DEL
0.065
2-ND
CCSER2p.S985Qfs*14
Frame_Shift_Del
DEL
0.466
2-ND
CCT2p.X526_splice
Splice_Site
SNP
0.532
2-ND
CD163L1p.I886Hfs*35
Frame_Shift_Ins
INS
0.292
2-ND
CD1Dp.Y262H
Missense
SNP
0.475
2-ND
CD200p.R201W
Missense
SNP
0.487
2-ND
CD274-
-
-
-
3GainND
CD40p.I204F
Missense
SNP
0.489
2-ND
CD58p.R80M
Missense
SNP
0.500
2-ND
CD72-
-
-
-
3GainND
CD79Ap.K141N
Missense
SNP
0.500
2-ND
CD82p.V100M
Missense
SNP
0.474
2-ND
CD93p.E121Rfs*79
Frame_Shift_Del
DEL
0.621
2-ND
CDADC1p.E204G
Missense
SNP
0.497
2-ND
CDC14B-
-
-
-
4GainND
CDC26-
-
-
-
4GainND
CDC37L1-
-
-
-
3GainND
CDC42BPGp.L498P
Missense
SNP
0.500
2-ND
CDH22p.G625S
Missense
SNP
0.477
2-ND
CDH23p.T997M
Missense
SNP
0.494
2-ND
CDHR2p.D54E
Missense
SNP
0.413
2-ND
CDK12p.P565H
Missense
SNP
0.496
2-ND
CDK20-
-
-
-
4GainND
CDK5R1p.S122Lfs*29
Frame_Shift_Ins
INS
0.281
2-ND
CDK5RAP2p.K471Nfs*8
Frame_Shift_Del
DEL
0.244
4GainND
CDK9-
-
-
-
5AmpND
CDKN1Ap.T55A
Missense
SNP
0.445
2-ND
CDKN2A-
-
-
-
3GainND
CDKN2B-
-
-
-
3GainND
CDNFp.K115R
Missense
SNP
0.459
2-ND
CDPF1p.N33Tfs*14
Frame_Shift_Del
DEL
0.451
2-ND
CECR6p.A288S
Missense
SNP
0.485
NDNDND
CELp.V607Rfs*6
Frame_Shift_Ins
INS
0.278
5AmpND
CELF2p.A272V
Missense
SNP
0.520
2-ND
CELF4p.Y102H
Missense
SNP
0.449
2-ND
CELSR1p.E2221A
Missense
SNP
0.525
2-ND
CEMIP2-
-
-
-
4GainND
CENPP-
-
-
-
4GainND
CEP112p.Q899R
Missense
SNP
0.504
2-ND
CEP162p.F406Lfs*8
Frame_Shift_Del
DEL
0.481
2-ND
CEP78-
-
-
-
4GainND
CER1-
-
-
-
3GainND
CERCAM-
-
-
-
5AmpND
CERS3p.A103S
Missense
SNP
0.510
2-ND
CES2p.T296M
Missense
SNP
0.453
2-ND
CFAP157-
-
-
-
5AmpND
CFAP77-
-
-
-
5AmpND
CFHR5p.R385Gfs*17
Frame_Shift_Del
DEL
0.447
2-ND
CHD3p.E1711Gfs*30
Frame_Shift_Ins
INS
0.289
2-ND
CHD6p.E1346D
Missense
SNP
0.462
2-ND
CHD7p.D652Tfs*59
Frame_Shift_Del
DEL
0.386
2-ND
CHEK1p.T226Hfs*14
Frame_Shift_Del
DEL
0.542
2-ND
CHFRp.R639Pfs*2
p.P535Rfs*16
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.315
0.464
2-ND
CHMP5-
-
-
-
3GainND
CHPT1p.F162Sfs*23
Frame_Shift_Del
DEL
0.461
2-ND
CHRAC1-
-
-
-
3GainND
CICp.T1568A
Missense
SNP
0.493
2-ND
CIITAp.F119Sfs*2
Frame_Shift_Del
DEL
0.463
2-ND
CIZ1-
-
-
-
5AmpND
CKS2-
-
-
-
4GainND
CLEC3Ap.E201K
Missense
SNP
0.446
2-ND
CLIC3p.G105S
Missense
SNP
0.232
5AmpND
CLOCKp.L123*
Frame_Shift_Del
DEL
0.870
2-ND
CLPPp.A10Gfs*65
Frame_Shift_Ins
INS
0.312
2-ND
CLRN1p.P31S
Missense
SNP
0.456
2-ND
CLTA-
-
-
-
3GainND
CMTR2p.K422Nfs*29
Frame_Shift_Del
DEL
0.456
2-ND
CMYA5p.S781*
Nonsense
SNP
0.477
2-ND
CNNM1p.A2V
Missense
SNP
0.621
2-ND
CNTFR-
-
-
-
3GainND
CNTLN-
-
-
-
3GainND
CNTN6p.K418Sfs*63
p.A908E
Frame_Shift_Del
Missense
DEL
SNP
0.524
0.473
2-ND
CNTNAP3-
-
-
-
3GainND
CNTNAP3B-
-
-
-
3GainND
CNTNAP3C-
-
-
-
3GainND
CNTRL-
-
-
-
4GainND
CNTROBp.S45R
Missense
SNP
0.515
2-ND
COG1p.E726A
Missense
SNP
0.402
2-ND
COL11A1p.P474Qfs*20
Frame_Shift_Del
DEL
0.412
2-ND
COL12A1p.H2649Tfs*6
p.I210Ffs*9
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.469
0.495
2-ND
COL13A1p.E543Rfs*51
Frame_Shift_Del
DEL
0.550
2-ND
COL14A1-
-
-
-
3GainND
COL15A1-
-
-
-
4GainND
COL1A2-
-
-
-
1LossND
COL21A1-
-
-
-
1LossND
COL22A1-
-
-
-
3GainND
COL27A1-
-
-
-
4GainND
COL4A3-
-
-
-
1LossND
COL4A4p.G737E
Missense
SNP
0.588
1LossND
COL4A6p.T1623I
Missense
SNP
1.000
NDNDND
COL5A1-
-
-
-
5AmpND
COL5A2-
-
-
-
1LossND
COL6A5p.F1867Lfs*50
Frame_Shift_Del
DEL
0.476
2-ND
COL7A1p.G2251W
Missense
SNP
0.533
2-ND
COL9A3p.A542V
Missense
SNP
0.344
2-ND
COLEC10-
-
-
-
3GainND
COMMD5-
-
-
-
3GainND
COPEp.V189Sfs*55
Frame_Shift_Del
DEL
0.544
2-ND
COQ10Bp.S183Qfs*23
Frame_Shift_Del
DEL
0.441
2-ND
COQ4-
-
-
-
5AmpND
CORO2A-
-
-
-
4GainND
CPEp.A11T
Missense
SNP
0.354
2-ND
CPS1p.R912Gfs*26
Frame_Shift_Del
DEL
0.516
2-ND
CPSF1-
-
-
-
3GainND
CPXM1p.F694Ifs*47
Frame_Shift_Ins
INS
0.352
2-ND
CR1p.I1796M
Missense
SNP
0.480
2-ND
CR2p.P27L
Missense
SNP
0.514
2-ND
CRAT-
-
-
-
5AmpND
CRB2-
-
-
-
5AmpND
CREB3-
-
-
-
3GainND
CREBBPp.I1471T
Missense
SNP
0.483
2-ND
CROTp.C43Y
Missense
SNP
0.493
2-ND
CRYBG3p.L2804Ffs*10
Frame_Shift_Ins
INS
0.327
2-ND
CRYMp.F34L
Missense
SNP
0.448
2-ND
CSF2p.G85Afs*10
Frame_Shift_Del
DEL
0.477
2-ND
CSMD1p.R302S
Missense
SNP
0.490
2-ND
CSMD3p.T3702M
p.E2501D
Missense
Missense
SNP
SNP
0.531
0.547
2-ND
CSNK1Dp.I68S
Missense
SNP
0.543
2-ND
CTB-133G6.1p.V186A
Missense
SNP
0.533
NDNDND
CTB-50L17.10p.E621V
Missense
SNP
0.444
NDNDND
CTC-534A2.2p.N144Tfs*13
Frame_Shift_Del
DEL
0.473
NDNDND
CTNNAL1-
-
-
-
4GainND
CTNND2p.E899D
Missense
SNP
0.468
2-ND
CTRB1p.P41Qfs*19
Frame_Shift_Del
DEL
0.439
2-ND
CTSCp.F105Lfs*10
Frame_Shift_Del
DEL
0.381
2-ND
CTSL-
-
-
-
4GainND
CTSVp.A17T
Missense
SNP
0.478
4GainND
CTSZp.X103_splice
Splice_Site
SNP
0.500
2-ND
CUBNp.Q3289*
p.E2827K
Nonsense
Missense
SNP
SNP
0.519
0.372
2-ND
CUL1p.D516Rfs*47
Frame_Shift_Ins
INS
0.322
2-ND
CUL4Ap.R158H
Missense
SNP
0.519
2-ND
CUX1p.X419_splice
Splice_Site
SNP
0.396
2-ND
CWC22p.G131R
Missense
SNP
0.458
2-ND
CYB5D2p.R239H
Missense
SNP
0.556
2-ND
CYC1p.S93Qfs*26
Frame_Shift_Ins
INS
0.369
3GainND
CYGBp.W190Gfs*13
Frame_Shift_Del
DEL
0.481
2-ND
CYHR1-
-
-
-
3GainND
CYLC2-
-
-
-
4GainND
CYP11B1-
-
-
-
3GainND
CYP11B2-
-
-
-
3GainND
CYP27B1p.V75M
Missense
SNP
0.542
2-ND
CYP2D6p.N398S
Missense
SNP
0.256
2-ND
CYSRT1-
-
-
-
5AmpND
DAB2IP-
-
-
-
5AmpND
DAPK1p.Y1275Tfs*31
p.E1006A
Frame_Shift_Del
Missense
DEL
SNP
0.215
0.320
4GainND
DBH-
-
-
-
5AmpND
DCAF1p.R294H
Missense
SNP
0.458
2-ND
DCAF10-
-
-
-
3GainND
DCAF12-
-
-
-
3GainND
DCHS2p.S255G
Missense
SNP
0.323
2-ND
DCLRE1Ap.P708H
Missense
SNP
0.472
2-ND
DCSTAMPp.L451R
Missense
SNP
0.523
2-ND
DCTN1p.R32C
Missense
SNP
0.477
2-ND
DCTN3-
-
-
-
3GainND
DCUN1D4p.V19Wfs*18
Frame_Shift_Del
DEL
0.419
2-ND
DDIASp.Q293H
Missense
SNP
0.492
2-ND
DDOSTp.R254H
Missense
SNP
0.503
2-ND
DDR1p.L186_D189delinsH
In_Frame_Del
DEL
0.353
2-ND
DDX20p.R722I
Missense
SNP
0.465
2-ND
DDX27p.P778S
Missense
SNP
0.342
2-ND
DDX31p.V581I
Missense
SNP
0.442
5AmpND
DDX46p.R551C
Missense
SNP
0.485
2-ND
DDX58-
-
-
-
3GainND
DEC1-
-
-
-
4GainND
DECR2-
-
-
-
1LossND
DENND1A-
-
-
-
5AmpND
DENND3p.V1192A
Missense
SNP
0.674
3GainND
DENND4C-
-
-
-
3GainND
DENND6Bp.M98T
Missense
SNP
0.409
2-ND
DEPTOR-
-
-
-
3GainND
DERL1-
-
-
-
3GainND
DGAT1-
-
-
-
3GainND
DHX30p.F982L
Missense
SNP
0.518
2-ND
DIO2p.R53H
Missense
SNP
0.519
2-ND
DIP2Cp.P1036Qfs*3
Frame_Shift_Del
DEL
0.509
2-ND
DIRAS2-
-
-
-
4GainND
DLGAP2p.A626V
p.A935V
Missense
Missense
SNP
SNP
0.498
0.502
2-ND
DMAC1-
-
-
-
3GainND
DMBT1-
-
-
-
1LossND
DMDp.Q1383E
Missense
SNP
1.000
NDNDND
DMRT1-
-
-
-
3GainND
DMRT2-
-
-
-
3GainND
DMRT3-
-
-
-
3GainND
DMRTA1-
-
-
-
3GainND
DMXL2p.L109*
Frame_Shift_Del
DEL
0.600
2-ND
DNAH12p.T1735A
Missense
SNP
0.508
2-ND
DNAH7p.P3413L
p.X248_splice
Missense
Splice_Site
SNP
SNP
0.369
0.607
2-ND
DNAH9p.Y3029C
Missense
SNP
0.457
2-ND
DNAI1-
-
-
-
3GainND
DNAJA1-
-
-
-
3GainND
DNAJB12p.X370_splice
Splice_Site
DEL
0.440
2-ND
DNAJB5p.A347T
Missense
SNP
0.709
3GainND
DNAJB7p.K295Rfs*25
Frame_Shift_Del
DEL
0.406
2-ND
DNAJC25-
-
-
-
4GainND
DNAJC25-GNG10-
-
-
-
4GainND
DNHD1p.F640L
Missense
SNP
0.505
2-ND
DNLZ-
-
-
-
5AmpND
DNM1-
-
-
-
5AmpND
DNMT3Ap.T834A
Missense
SNP
0.493
2-ND
DNMT3Lp.A39S
Missense
SNP
0.482
2-ND
DOC2Ap.A242V
Missense
SNP
0.522
2-ND
DOCK1p.A359T
p.L660P
Missense
Missense
SNP
SNP
0.521
0.481
2-ND
DOCK10p.L1088R
p.L594I
Missense
Missense
SNP
SNP
0.464
0.416
2-ND
DOCK3p.P1852Qfs*45
Frame_Shift_Del
DEL
0.970
2-ND
DOCK8-
-
-
-
3GainND
DOK6p.M238I
Missense
SNP
0.431
2-ND
DOLK-
-
-
-
5AmpND
DOLPP1-
-
-
-
5AmpND
DOT1Lp.P537Lfs*122
Frame_Shift_Del
DEL
0.455
2-ND
DPF3p.R232L
Missense
SNP
0.488
2-ND
DPH7-
-
-
-
5AmpND
DPM2-
-
-
-
5AmpND
DPP3p.Y100Tfs*27
Frame_Shift_Del
DEL
0.497
2-ND
DPP6p.P297Q
Missense
SNP
0.493
2-ND
DPP7-
-
-
-
5AmpND
DPYSL3p.A630Qfs*15
Frame_Shift_Del
DEL
0.418
2-ND
DRP2p.L639S
Missense
SNP
1.000
NDNDND
DSCAML1p.I433V
Missense
SNP
0.510
2-ND
DSCC1-
-
-
-
3GainND
DSG2p.I845*
Frame_Shift_Del
DEL
0.448
2-ND
DUSP12p.A141Pfs*14
Frame_Shift_Del
DEL
0.449
2-ND
DUSP27p.A892V
Missense
SNP
0.521
2-ND
DYNC1H1p.R2179*
Nonsense
SNP
0.516
2-ND
DYNC1I2p.R57Kfs*5
Frame_Shift_Ins
INS
0.278
2-ND
DYNC2H1p.G2762Wfs*10
Frame_Shift_Ins
INS
0.177
2-ND
DYRK1Bp.L592P
Missense
SNP
0.327
2-ND
DYRK3p.N302Ifs*35
Frame_Shift_Del
DEL
0.510
2-ND
DYRK4p.R355Dfs*12
Frame_Shift_Del
DEL
0.514
2-ND
DYSFp.L1317P
p.R1759C
Missense
Missense
SNP
SNP
0.546
0.422
2-ND
E2F7p.K59Nfs*29
Frame_Shift_Del
DEL
0.075
2-ND
E4F1p.C577R
Missense
SNP
0.451
2-ND
EARS2p.P85H
Missense
SNP
0.398
2-ND
EBF4p.V270I
Missense
SNP
0.455
2-ND
ECM2-
-
-
-
4GainND
ECPAS-
-
-
-
4GainND
EDF1-
-
-
-
5AmpND
EEF1D-
-
-
-
3GainND
EFCAB5p.K150Nfs*17
Frame_Shift_Del
DEL
0.428
2-ND
EFCAB8p.S1180G
Missense
SNP
0.486
2-ND
EFHC2p.G491*
Nonsense
SNP
1.000
NDNDND
EFL1p.T1069Nfs*3
Frame_Shift_Ins
INS
0.314
2-ND
EFR3A-
-
-
-
3GainND
EGFL7-
-
-
-
5AmpND
EGFRp.V769A
Missense
SNP
0.559
2-ND
EHMT1-
-
-
-
5AmpND
EIF3H-
-
-
-
3GainND
EIF5Bp.K50Sfs*10
Frame_Shift_Del
DEL
0.440
2-ND
ELAVL1p.T90Pfs*13
Frame_Shift_Del
DEL
0.591
2-ND
ELAVL2-
-
-
-
3GainND
ELAVL3p.G102S
Missense
SNP
0.458
2-ND
ELNp.A707D
Missense
SNP
0.538
2-ND
ELP1-
-
-
-
4GainND
EML2p.Y803*
Nonsense
SNP
0.475
2-ND
ENDOG-
-
-
-
5AmpND
ENG-
-
-
-
5AmpND
ENHO-
-
-
-
3GainND
ENO4p.K207Rfs*32
Frame_Shift_Del
DEL
0.467
2-ND
ENPP2-
-
-
-
3GainND
ENTPD2-
-
-
-
5AmpND
ENTPD8-
-
-
-
5AmpND
ENTR1-
-
-
-
5AmpND
EPB41L4B-
-
-
-
4GainND
EPN1p.G337Afs*191
Frame_Shift_Del
DEL
0.447
2-ND
EPN2p.T470Nfs*19
Frame_Shift_Ins
INS
0.296
2-ND
EPPK1-
-
-
-
3GainND
EQTN-
-
-
-
3GainND
ERCC5p.K952Nfs*30
Frame_Shift_Del
DEL
0.426
2-ND
ERCC6p.R1230H
Missense
SNP
0.458
2-ND
ERCC6L2-
-
-
-
4GainND
ERMP1p.T651Pfs*3
Frame_Shift_Del
DEL
0.548
3GainND
ERN2p.G973V
Missense
SNP
0.553
2-ND
ERP44-
-
-
-
4GainND
ERVV-2p.A415Gfs*11
Frame_Shift_Ins
INS
0.302
2-ND
ESPNp.P209Rfs*18
Frame_Shift_Del
DEL
0.587
2-ND
ESR1p.R241W
Missense
SNP
0.509
2-ND
ETV4p.D80N
Missense
SNP
0.463
2-ND
EVA1Bp.T146Kfs*65
Frame_Shift_Del
DEL
0.376
2-ND
EVPLp.G366Afs*75
Frame_Shift_Del
DEL
0.487
2-ND
EXD1p.K410E
Missense
SNP
0.493
2-ND
EXD3-
-
-
-
5AmpND
EXOSC2-
-
-
-
5AmpND
EXOSC3-
-
-
-
3GainND
EXOSC4-
-
-
-
3GainND
EXOSC9p.F78Lfs*23
Frame_Shift_Del
DEL
0.554
2-ND
EXT1-
-
-
-
3GainND
EYSp.D762V
Missense
SNP
0.460
2-ND
F10p.R313Q
Missense
SNP
0.482
2-ND
FAF1p.A552V
Missense
SNP
0.536
2-ND
FAM102A-
-
-
-
5AmpND
FAM110Ap.P32Afs*47
Frame_Shift_Ins
INS
0.288
2-ND
FAM110Dp.W136Lfs*224
Frame_Shift_Ins
INS
0.345
2-ND
FAM120A-
-
-
-
4GainND
FAM120AOS-
-
-
-
4GainND
FAM122A-
-
-
-
4GainND
FAM129Ap.P251S
Missense
SNP
0.618
2-ND
FAM129B-
-
-
-
5AmpND
FAM134Bp.E20D
Missense
SNP
0.540
NDNDND
FAM135B-
-
-
-
3GainND
FAM163B-
-
-
-
5AmpND
FAM166A-
-
-
-
5AmpND
FAM166B-
-
-
-
3GainND
FAM173Ap.P214H
Missense
SNP
0.515
2-ND
FAM181Bp.E185*
Frame_Shift_Ins
INS
0.344
2-ND
FAM189A2-
-
-
-
4GainND
FAM193Ap.V231Sfs*81
Frame_Shift_Del
DEL
0.391
2-ND
FAM196Bp.V302A
Missense
SNP
0.413
NDNDND
FAM205A-
-
-
-
3GainND
FAM205C-
-
-
-
3GainND
FAM206A-
-
-
-
4GainND
FAM214Ap.N596S
p.R146*
Missense
Nonsense
SNP
SNP
0.492
0.505
2-ND
FAM214B-
-
-
-
3GainND
FAM218Ap.A146V
Missense
SNP
0.563
2-ND
FAM219A-
-
-
-
3GainND
FAM221B-
-
-
-
3GainND
FAM234A-
-
-
-
1LossND
FAM46Bp.T345I
Missense
SNP
0.459
NDNDND
FAM47Bp.R198H
Missense
SNP
1.000
NDNDND
FAM49B-
-
-
-
3GainND
FAM65Ap.L718I
Missense
SNP
0.487
NDNDND
FAM65Cp.L380R
Missense
SNP
0.448
NDNDND
FAM69B-
-
-
-
5AmpND
FAM78A-
-
-
-
5AmpND
FAM81Bp.G145V
Missense
SNP
0.455
2-ND
FAM83A-
-
-
-
3GainND
FAM83H-
-
-
-
3GainND
FAM84B-
-
-
-
3GainND
FAM91A1-
-
-
-
3GainND
FAM95C-
-
-
-
3GainND
FANCC-
-
-
-
4GainND
FANCG-
-
-
-
3GainND
FANCMp.V1336Lfs*2
Frame_Shift_Del
DEL
0.408
2-ND
FARP1p.A287V
Missense
SNP
0.464
2-ND
FAT4p.X2482_splice
p.D3430Y
Splice_Site
Missense
SNP
SNP
0.667
0.520
2-ND
FBN1p.S104F
Missense
SNP
0.627
2-ND
FBN3p.G1577Vfs*72
Frame_Shift_Del
DEL
0.492
2-ND
FBP1-
-
-
-
4GainND
FBP2-
-
-
-
4GainND
FBXL6-
-
-
-
3GainND
FBXO10-
-
-
-
3GainND
FBXO32-
-
-
-
3GainND
FBXO42p.R412I
Missense
SNP
0.491
2-ND
FBXW12p.R254S
Missense
SNP
0.469
2-ND
FBXW2-
-
-
-
4GainND
FBXW5p.S247N
Missense
SNP
0.497
5AmpND
FBXW7p.R465C
Missense
SNP
0.524
2-ND
FCHSD2p.R615C
Missense
SNP
0.467
2-ND
FCN1-
-
-
-
5AmpND
FCN2-
-
-
-
5AmpND
FER1L6p.Q1016H
Missense
SNP
0.688
3GainND
FERMT2p.D57Rfs*4
Frame_Shift_Ins
INS
0.378
2-ND
FGD3-
-
-
-
4GainND
FGF4p.R57C
Missense
SNP
0.445
2-ND
FGFR1p.G729S
Missense
SNP
0.466
2-ND
FGFR1OPp.S291Vfs*12
Frame_Shift_Del
DEL
0.456
2-ND
FIBCD1-
-
-
-
5AmpND
FKBP15p.P1071A
Missense
SNP
0.462
4GainND
FKRPp.E376K
Missense
SNP
0.517
2-ND
FKTN-
-
-
-
4GainND
FLNBp.N1728I
Missense
SNP
0.416
2-ND
FLVCR2p.S62N
Missense
SNP
0.510
2-ND
FMNL1p.M798T
Missense
SNP
0.557
2-ND
FMR1p.K354Nfs*3
Frame_Shift_Del
DEL
0.925
NDNDND
FN1p.V1338I
p.R479H
Missense
Missense
SNP
SNP
0.541
0.488
2-ND
FNBP1-
-
-
-
5AmpND
FNIP1p.Q1128Afs*16
Frame_Shift_Ins
INS
0.274
2-ND
FOCAD-
-
-
-
3GainND
FOXB2-
-
-
-
4GainND
FOXD4L4-
-
-
-
3GainND
FOXD4L5-
-
-
-
3GainND
FOXE1-
-
-
-
4GainND
FOXG1p.P74Q
Missense
SNP
0.447
2-ND
FOXH1-
-
-
-
3GainND
FOXM1p.E709Nfs*12
Frame_Shift_Del
DEL
0.436
2-ND
FOXRED2p.R403*
Nonsense
SNP
0.500
2-ND
FPGS-
-
-
-
5AmpND
FRAT2p.Q57R
Missense
SNP
0.611
2-ND
FREM1-
-
-
-
3GainND
FRMD1p.R318M
Missense
SNP
0.429
2-ND
FRMD3-
-
-
-
4GainND
FRMPD1-
-
-
-
3GainND
FRRS1p.R393W
Missense
SNP
0.467
2-ND
FRRS1L-
-
-
-
4GainND
FRYp.Y1426H
Missense
SNP
0.447
2-ND
FSD1L-
-
-
-
4GainND
FSHRp.N354T
Missense
SNP
0.506
2-ND
FTOp.V116I
Missense
SNP
0.561
2-ND
FUBP3-
-
-
-
5AmpND
FUKp.L851M
Missense
SNP
0.467
2-ND
FUT7-
-
-
-
5AmpND
FUT8p.R473*
Nonsense
SNP
0.556
2-ND
FXN-
-
-
-
4GainND
FXR2p.P540Qfs*32
p.D9Mfs*22
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.470
0.429
2-ND
FZR1p.N335S
Missense
SNP
0.561
2-ND
GAB1p.T221Rfs*?
Frame_Shift_Del
DEL
0.467
2-ND
GAB3p.A99V
Missense
SNP
1.000
NDNDND
GAB4p.D77A
Missense
SNP
0.462
2-ND
GABBR1p.A21T
Missense
SNP
0.477
2-ND
GABBR2-
-
-
-
4GainND
GABRB2p.S500Pfs*12
Frame_Shift_Del
DEL
0.438
2-ND
GABRG2p.M23Nfs*17
Frame_Shift_Ins
INS
0.338
2-ND
GADD45G-
-
-
-
4GainND
GALCp.*686Yext*42
Nonstop
SNP
0.522
2-ND
GALNT10p.Y450C
Missense
SNP
0.554
2-ND
GALNT12p.G215R
Missense
SNP
0.509
4GainND
GALT-
-
-
-
3GainND
GAMTp.A19T
Missense
SNP
0.447
2-ND
GAPVD1-
-
-
-
5AmpND
GARNL3-
-
-
-
5AmpND
GAS1-
-
-
-
4GainND
GAS2L3p.R262C
Missense
SNP
0.619
2-ND
GAS6p.R151Pfs*27
Frame_Shift_Ins
INS
0.310
2-ND
GAS7p.M1?
p.P112H
Frame_Shift_Del
Missense
DEL
SNP
0.443
0.508
2-ND
GBA2-
-
-
-
3GainND
GBGT1-
-
-
-
5AmpND
GCGRp.G196E
Missense
SNP
0.479
2-ND
GCM2p.P269T
Missense
SNP
0.467
2-ND
GCNT1-
-
-
-
4GainND
GCNT3p.Y135H
Missense
SNP
0.515
2-ND
GCNT7p.D323Mfs*73
Frame_Shift_Del
DEL
0.653
2-ND
GDA-
-
-
-
4GainND
GDF7p.A418T
Missense
SNP
0.506
2-ND
GDPD5p.M534V
Missense
SNP
0.539
2-ND
GEMIN5p.F304Lfs*58
Frame_Shift_Del
DEL
0.514
2-ND
GFI1B-
-
-
-
5AmpND
GFPT2p.V463I
Missense
SNP
0.486
2-ND
GHITMp.T166I
Missense
SNP
0.486
2-ND
GIGYF1p.L111Pfs*20
Frame_Shift_Ins
INS
0.293
2-ND
GK2p.I130Ffs*23
Frame_Shift_Del
DEL
0.442
2-ND
GKAP1-
-
-
-
4GainND
GLB1p.N669Tfs*17
Frame_Shift_Del
DEL
0.523
2-ND
GLDC-
-
-
-
3GainND
GLE1-
-
-
-
5AmpND
GLI1p.G274Afs*6
Frame_Shift_Del
DEL
0.490
2-ND
GLI2p.V1361Wfs*8
p.E617G
Frame_Shift_Del
Missense
DEL
SNP
0.448
0.433
2-ND
GLI4-
-
-
-
3GainND
GLIPR2p.P151S
Missense
SNP
0.659
3GainND
GLIS1p.T73Pfs*29
Frame_Shift_Del
DEL
0.565
2-ND
GLIS3-
-
-
-
3GainND
GLT6D1-
-
-
-
5AmpND
GML-
-
-
-
3GainND
GNA14-
-
-
-
4GainND
GNAQ-
-
-
-
4GainND
GNAZp.Q205Rfs*29
Frame_Shift_Del
DEL
0.405
2-ND
GNB1Lp.X43_splice
Splice_Site
SNP
0.414
2-ND
GNE-
-
-
-
3GainND
GNG10-
-
-
-
4GainND
GNRHRp.S327Lfs*4
Frame_Shift_Del
DEL
0.500
2-ND
GOLGA1-
-
-
-
5AmpND
GOLGA2-
-
-
-
5AmpND
GOLM1-
-
-
-
4GainND
GOT1p.A230T
Missense
SNP
0.444
2-ND
GOT2p.G173S
Missense
SNP
0.475
2-ND
GP1BAp.P450L
Missense
SNP
0.432
2-ND
GPAA1-
-
-
-
3GainND
GPATCH4p.R340Q
Missense
SNP
0.529
2-ND
GPATCH8p.A32V
Missense
SNP
0.465
2-ND
GPIHBP1-
-
-
-
3GainND
GPR107-
-
-
-
5AmpND
GPR20-
-
-
-
3GainND
GPR21-
-
-
-
5AmpND
GPR6p.A106V
Missense
SNP
0.523
2-ND
GPSM1-
-
-
-
5AmpND
GPT-
-
-
-
3GainND
GRAMD1Bp.G73C
Missense
SNP
0.472
2-ND
GRAMD1Cp.K43Nfs*42
Frame_Shift_Del
DEL
0.469
2-ND
GRB14p.K297Nfs*23
Frame_Shift_Del
DEL
0.532
2-ND
GRHPR-
-
-
-
3GainND
GRIA4p.L784P
Missense
SNP
0.434
2-ND
GRIK2p.N849Kfs*11
Frame_Shift_Ins
INS
0.250
2-ND
GRIN1-
-
-
-
5AmpND
GRIN2Bp.G1370R
Missense
SNP
0.518
2-ND
GRIN3A-
-
-
-
4GainND
GRINA-
-
-
-
3GainND
GRK2p.R378Gfs*29
Frame_Shift_Del
DEL
0.374
2-ND
GRK4p.R222Efs*2
Frame_Shift_Del
DEL
0.509
2-ND
GRM1p.K891E
Missense
SNP
0.417
2-ND
GRM3p.Q855*
Nonsense
SNP
0.472
2-ND
GSCp.C18Y
Missense
SNP
0.562
2-ND
GSDMC-
-
-
-
3GainND
GSDMD-
-
-
-
3GainND
GSN-
-
-
-
4GainND
GSTM1p.C115R
Missense
SNP
1.000
2-ND
GTF2IRD1p.G951R
Missense
SNP
0.455
2-ND
GTF3C4-
-
-
-
5AmpND
GTF3C5-
-
-
-
5AmpND
HABP4-
-
-
-
4GainND
HACD4-
-
-
-
3GainND
HAND2p.A87V
Missense
SNP
0.473
2-ND
HAPLN4p.T236Pfs*43
Frame_Shift_Del
DEL
0.457
2-ND
HAS1p.V251M
Missense
SNP
0.496
2-ND
HAS2-
-
-
-
3GainND
HAUS6-
-
-
-
3GainND
HDAC4p.Q499R
Missense
SNP
0.504
2-ND
HDHD3-
-
-
-
4GainND
HEATR6p.V438Ffs*24
Frame_Shift_Del
DEL
0.475
2-ND
HECTD4p.A3240Rfs*26
p.N3556S
Frame_Shift_Del
Missense
DEL
SNP
0.481
0.463
2-ND
HECW1p.R992W
Missense
SNP
0.529
2-ND
HECW2p.K383Sfs*12
Frame_Shift_Del
DEL
0.512
2-ND
HELBp.P987H
Missense
SNP
0.470
2-ND
HEMGN-
-
-
-
4GainND
HERC1p.K3605Nfs*17
Frame_Shift_Del
DEL
0.407
2-ND
HERC2p.X3714_splice
Splice_Site
SNP
0.511
2-ND
HFE2p.C321Vfs*21
p.R332H
Frame_Shift_Ins
Missense
INS
SNP
0.291
0.543
NDNDND
HGH1-
-
-
-
3GainND
HGSp.E236Sfs*3
Frame_Shift_Del
DEL
0.504
2-ND
HHLA1-
-
-
-
3GainND
HINT2-
-
-
-
3GainND
HIPK3p.X633_splice
Splice_Site
SNP
0.526
2-ND
HIST1H3Ip.R18H
Missense
SNP
0.456
2-ND
HLA-Bp.L154P
Missense
SNP
0.270
2-ND
HLA-Cp.L154P
Missense
SNP
0.190
2-ND
HMCN2p.L3008P
Missense
SNP
0.232
5AmpND
HMGCLp.R10L
Missense
SNP
0.532
2-ND
HMX3p.P23Hfs*100
Frame_Shift_Del
DEL
0.485
2-ND
HNF1Ap.P379Lfs*5
Frame_Shift_Del
DEL
0.439
2-ND
HNRNPABp.D85Ifs*2
Frame_Shift_Del
DEL
0.426
2-ND
HNRNPCL1p.A35V
Missense
SNP
0.500
2-ND
HNRNPK-
-
-
-
4GainND
HNRNPMp.G413Vfs*115
Frame_Shift_Del
DEL
0.412
2-ND
HOMEZp.A301V
Missense
SNP
0.436
2-ND
HOXA11p.I299Lfs*30
Frame_Shift_Del
DEL
0.427
2-ND
HOXA2p.M98T
Missense
SNP
0.505
2-ND
HOXD11p.A29T
Missense
SNP
0.508
2-ND
HOXD8p.Q202*
Nonsense
SNP
0.428
2-ND
HP1BP3p.M39V
Missense
SNP
0.538
2-ND
HPS1p.M325Wfs*6
Frame_Shift_Del
DEL
0.399
2-ND
HRCT1-
-
-
-
3GainND
HSD17B1p.P57Q
Missense
SNP
0.546
2-ND
HSD17B3-
-
-
-
4GainND
HSDL2-
-
-
-
4GainND
HSF1-
-
-
-
3GainND
HSPA5-
-
-
-
5AmpND
HSPBP1p.L328Q
Missense
SNP
0.464
2-ND
HSPG2p.W938R
Missense
SNP
0.497
2-ND
HSPH1p.V580Sfs*2
Frame_Shift_Ins
INS
0.326
2-ND
HTR7p.T89K
Missense
SNP
0.423
2-ND
HTRA1-
-
-
-
1LossND
HYAL1p.R191W
Missense
SNP
0.511
2-ND
IARS-
-
-
-
4GainND
IDNK-
-
-
-
4GainND
IER5L-
-
-
-
5AmpND
IFFO1p.Q277H
Missense
SNP
0.537
2-ND
IFI27L2p.G52Vfs*?
Frame_Shift_Del
DEL
0.465
2-ND
IFIT3p.Y419H
Missense
SNP
0.546
2-ND
IFITM10p.L225Sfs*32
Frame_Shift_Del
DEL
0.515
2-ND
IFNA1-
-
-
-
3GainND
IFNA10-
-
-
-
3GainND
IFNA13-
-
-
-
3GainND
IFNA14-
-
-
-
3GainND
IFNA16-
-
-
-
3GainND
IFNA17-
-
-
-
3GainND
IFNA2-
-
-
-
3GainND
IFNA21-
-
-
-
3GainND
IFNA4-
-
-
-
3GainND
IFNA5-
-
-
-
3GainND
IFNA6-
-
-
-
3GainND
IFNA7-
-
-
-
3GainND
IFNA8-
-
-
-
3GainND
IFNB1-
-
-
-
3GainND
IFNE-
-
-
-
3GainND
IFNK-
-
-
-
3GainND
IFNW1-
-
-
-
3GainND
IFT74-
-
-
-
3GainND
IFT80p.*778Lext*12
Nonstop
SNP
0.493
2-ND
IGFBPL1-
-
-
-
3GainND
IGLON5p.I220T
Missense
SNP
0.468
2-ND
IGSF22p.G835D
Missense
SNP
0.578
2-ND
IGSF8p.G161Rfs*18
p.V79A
Frame_Shift_Ins
Missense
INS
SNP
0.263
0.494
2-ND
IKBKEp.R525Q
Missense
SNP
0.553
2-ND
IL11RA-
-
-
-
3GainND
IL33-
-
-
-
3GainND
ILKp.G408D
Missense
SNP
0.545
2-ND
INIP-
-
-
-
4GainND
INPP5A-
-
-
-
1LossND
INPP5E-
-
-
-
5AmpND
INPPL1p.L1130M
Missense
SNP
0.556
2-ND
INSL4-
-
-
-
3GainND
INSL6-
-
-
-
3GainND
INSM2p.R127H
Missense
SNP
0.584
2-ND
INSRp.V173M
Missense
SNP
0.498
2-ND
INTS1p.E130K
Missense
SNP
0.552
2-ND
INTS12p.M168I
Missense
SNP
0.415
2-ND
INVS-
-
-
-
4GainND
IPO4p.A36Pfs*10
Frame_Shift_Del
DEL
0.439
2-ND
IPO5p.V797I
Missense
SNP
0.516
2-ND
IPO7p.D904G
Missense
SNP
0.465
2-ND
IPO8p.V198L
Missense
SNP
0.492
2-ND
IPPK-
-
-
-
4GainND
IQANK1-
-
-
-
3GainND
IQCA1p.E314K
Missense
SNP
0.462
2-ND
IRGQp.R330C
Missense
SNP
0.488
2-ND
IRS1p.P368Rfs*95
Frame_Shift_Del
DEL
0.452
2-ND
IRX3p.E236Gfs*12
Frame_Shift_Ins
INS
0.262
2-ND
ISCA1-
-
-
-
4GainND
ISLR2p.A350T
Missense
SNP
0.457
2-ND
ITPR2p.W2229Sfs*15
Frame_Shift_Ins
INS
0.306
2-ND
IWS1p.A320V
Missense
SNP
0.477
2-ND
IZUMO2p.G20D
Missense
SNP
0.504
2-ND
IZUMO3-
-
-
-
3GainND
JADE3p.R753M
Missense
SNP
1.000
NDNDND
JAK2-
-
-
-
3GainND
JMJD1Cp.V117I
Missense
SNP
0.500
2-ND
JRK-
-
-
-
3GainND
JUPp.N5D
Missense
SNP
0.498
2-ND
KANK1p.E26V
Missense
SNP
0.638
3GainND
KANK4p.S627A
Missense
SNP
0.351
2-ND
KAT5p.R253*
Nonsense
SNP
0.532
2-ND
KAT6Bp.N1883Tfs*2
Frame_Shift_Del
DEL
0.448
2-ND
KCNH1p.N93Y
Missense
SNP
0.457
2-ND
KCNH3p.G1050Afs*39
Frame_Shift_Del
DEL
0.558
2-ND
KCNH4p.R800Gfs*28
Frame_Shift_Del
DEL
0.415
2-ND
KCNH7p.N719Kfs*2
Frame_Shift_Ins
INS
0.320
2-ND
KCNH8p.K209Sfs*29
Frame_Shift_Del
DEL
0.421
2-ND
KCNK9-
-
-
-
3GainND
KCNN3p.P217Rfs*67
Frame_Shift_Del
DEL
0.404
2-ND
KCNQ3p.K533Nfs*6
Frame_Shift_Del
DEL
0.534
3GainND
KCNT1-
-
-
-
5AmpND
KCNV2-
-
-
-
3GainND
KDM4C-
-
-
-
3GainND
KHDRBS3-
-
-
-
3GainND
KIAA0408.
Splice_Site
SNP
0.483
2-ND
KIAA0556p.S14P
Missense
SNP
0.480
2-ND
KIAA0753p.H116Tfs*21
Frame_Shift_Ins
INS
0.328
2-ND
KIAA1024p.S702Afs*11
Frame_Shift_Del
DEL
0.926
2-ND
KIAA1109p.V4405M
Missense
SNP
0.500
2-ND
KIAA1462p.D507Mfs*23
Frame_Shift_Del
DEL
0.473
NDNDND
KIAA1549p.V243I
Missense
SNP
0.405
2-ND
KIAA1683p.P498S
Missense
SNP
0.494
NDNDND
KIAA1755p.A633T
Missense
SNP
0.473
2-ND
KIAA1958p.K423R
Missense
SNP
0.260
4GainND
KIAA2012p.S515Vfs*25
p.K841Nfs*2
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.231
0.367
2-ND
KIAA2026-
-
-
-
3GainND
KIDINS220p.R596M
Missense
SNP
0.446
2-ND
KIF12-
-
-
-
4GainND
KIF17p.R232W
Missense
SNP
0.555
2-ND
KIF1Ap.R1302H
Missense
SNP
0.464
2-ND
KIF1Cp.Q542R
Missense
SNP
0.494
2-ND
KIF21Ap.I1235Ffs*7
Frame_Shift_Del
DEL
0.276
2-ND
KIF24-
-
-
-
3GainND
KIF26Ap.G417A
p.K916E
Missense
Missense
SNP
SNP
0.483
0.469
2-ND
KIF26Bp.A1835Pfs*41
Frame_Shift_Del
DEL
0.467
2-ND
KIF27-
-
-
-
4GainND
KIF4Bp.A717V
Missense
SNP
0.418
2-ND
KIFC2-
-
-
-
3GainND
KIR2DL4p.D310Mfs*4
Frame_Shift_Del
DEL
0.327
2-ND
KLF3p.K106Nfs*21
Frame_Shift_Del
DEL
0.469
2-ND
KLF4-
-
-
-
4GainND
KLF9-
-
-
-
4GainND
KLHDC7Bp.P586Lfs*83
Frame_Shift_Del
DEL
0.500
2-ND
KLHL38-
-
-
-
3GainND
KLHL4p.L384I
Missense
SNP
1.000
NDNDND
KLHL9-
-
-
-
3GainND
KMT2Ap.P58Rfs*92
Frame_Shift_Del
DEL
0.427
2-ND
KMT2Bp.L2359R
Missense
SNP
0.357
2-ND
KMT2Cp.R4763L
Missense
SNP
0.423
2-ND
KMT2Dp.G4479E
p.X134_splice
Missense
Splice_Site
SNP
SNP
0.516
0.492
2-ND
KRT12p.G291Efs*75
Frame_Shift_Del
DEL
0.269
2-ND
KRT15p.S34Vfs*31
Frame_Shift_Del
DEL
0.456
2-ND
KRT18p.G41Afs*27
Frame_Shift_Del
DEL
0.459
2-ND
KRT71p.R46Q
Missense
SNP
0.513
2-ND
KRTAP10-1p.V269G
Missense
SNP
0.437
2-ND
KRTAP13-1p.S51P
Missense
SNP
0.469
2-ND
KRTAP24-1p.G66S
Missense
SNP
0.558
2-ND
KRTCAP2p.R8W
Missense
SNP
0.214
2-ND
KSR2p.V242M
Missense
SNP
0.568
2-ND
KYAT1-
-
-
-
5AmpND
L3MBTL1p.S263N
Missense
SNP
0.493
2-ND
LAMA1p.K907E
Missense
SNP
0.592
2-ND
LAMA3p.T2580Hfs*68
p.Y2850C
p.T3028A
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.400
0.481
0.509
2-ND
LAMC3p.F794Lfs*90
Frame_Shift_Del
DEL
0.207
5AmpND
LARGE1p.T319I
p.R62C
Missense
Missense
SNP
SNP
0.565
0.654
2-ND
LARP4Bp.T163Hfs*47
Frame_Shift_Del
DEL
0.367
2-ND
LARP7.
Frame_Shift_Del
DEL
0.533
2-ND
LCE1Cp.C44Y
Missense
SNP
0.454
2-ND
LCN1-
-
-
-
5AmpND
LCN10-
-
-
-
5AmpND
LCN12-
-
-
-
5AmpND
LCN15-
-
-
-
5AmpND
LCN2-
-
-
-
5AmpND
LCN6-
-
-
-
5AmpND
LCN8-
-
-
-
5AmpND
LCN9-
-
-
-
5AmpND
LCNL1-
-
-
-
5AmpND
LDLRAD1p.G8V
Missense
SNP
0.407
2-ND
LDLRAD2p.A108V
Missense
SNP
0.489
2-ND
LGALS4p.K97Rfs*10
Frame_Shift_Del
DEL
0.495
2-ND
LGI3p.S396F
Missense
SNP
0.476
2-ND
LGI4p.T509A
Missense
SNP
0.504
2-ND
LGR6p.R510Gfs*75
Frame_Shift_Del
DEL
0.477
2-ND
LHX2p.P364H
Missense
SNP
0.479
5AmpND
LHX3-
-
-
-
5AmpND
LHX6-
-
-
-
5AmpND
LIMK1p.E369*
Nonsense
SNP
0.429
2-ND
LINGO1p.V12Rfs*167
Frame_Shift_Ins
INS
0.259
2-ND
LINGO2-
-
-
-
3GainND
LIPEp.R1075Dfs*101
Frame_Shift_Del
DEL
0.979
2-ND
LMAN1p.X275_splice
Splice_Site
DEL
0.475
2-ND
LMNB2p.S544Rfs*31
Frame_Shift_Del
DEL
0.466
2-ND
LMNTD2p.L603Pfs*?
Frame_Shift_Ins
INS
0.316
2-ND
LMX1B-
-
-
-
5AmpND
LNPEPp.N145Tfs*6
Frame_Shift_Del
DEL
0.483
2-ND
LNX2p.D457G
p.V103D
Missense
Missense
SNP
SNP
0.464
0.421
2-ND
LONP2p.A216V
Missense
SNP
0.459
2-ND
LPAp.A1544V
Missense
SNP
0.333
2-ND
LPAR1-
-
-
-
4GainND
LPAR2p.E285K
Missense
SNP
0.533
2-ND
LPAR3p.Y14Ifs*18
Frame_Shift_Del
DEL
0.436
2-ND
LPAR5p.L26M
Missense
SNP
0.509
2-ND
LPCAT4p.A160V
Missense
SNP
0.417
2-ND
LRBAp.I2118Sfs*46
p.T2011Qfs*11
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.545
0.380
2-ND
LRIG1p.L73P
Missense
SNP
0.459
2-ND
LRIG3p.V41Sfs*22
Frame_Shift_Del
DEL
0.598
2-ND
LRP1p.E1490Rfs*80
Frame_Shift_Del
DEL
0.515
2-ND
LRP4p.L1836Pfs*24
Frame_Shift_Ins
INS
0.281
2-ND
LRRC14-
-
-
-
3GainND
LRRC16Ap.K265Nfs*6
Frame_Shift_Del
DEL
0.516
NDNDND
LRRC19-
-
-
-
3GainND
LRRC24-
-
-
-
3GainND
LRRC26-
-
-
-
5AmpND
LRRC29p.A147T
Missense
SNP
0.524
2-ND
LRRC41p.S134Pfs*116
Frame_Shift_Del
DEL
0.490
2-ND
LRRC55p.G126D
Missense
SNP
0.538
2-ND
LRRC56p.I273Sfs*137
Frame_Shift_Del
DEL
0.447
2-ND
LRRC6-
-
-
-
3GainND
LRRC8A-
-
-
-
5AmpND
LRRC8Dp.I390M
Missense
SNP
0.444
2-ND
LRRC9p.N647Tfs*11
Frame_Shift_Del
DEL
0.531
2-ND
LRSAM1-
-
-
-
5AmpND
LTBP3p.W311C
Missense
SNP
0.496
2-ND
LTBP4p.A1409Pfs*21
Frame_Shift_Ins
INS
0.245
2-ND
LTFp.A359S
Missense
SNP
0.541
2-ND
LTN1p.V747Sfs*5
Frame_Shift_Del
DEL
0.988
2-ND
LURAP1L-
-
-
-
3GainND
LUZP1p.M224*
Frame_Shift_Del
DEL
0.406
2-ND
LY6D-
-
-
-
3GainND
LY6E-
-
-
-
3GainND
LY6H-
-
-
-
3GainND
LY6K-
-
-
-
3GainND
LY6L-
-
-
-
3GainND
LYARp.P239Lfs*49
Frame_Shift_Del
DEL
0.534
2-ND
LYNX1-
-
-
-
3GainND
LYNX1-SLURP2-
-
-
-
3GainND
LYPD2-
-
-
-
3GainND
LYSMD2p.H214P
Missense
SNP
0.512
2-ND
LZTR1p.H287Q
Missense
SNP
0.452
2-ND
MAF1-
-
-
-
3GainND
MAFA-
-
-
-
3GainND
MAFBp.S318F
Missense
SNP
0.553
2-ND
MAGI2p.G1421Afs*53
Frame_Shift_Del
DEL
0.471
2-ND
MAL2-
-
-
-
3GainND
MAMDC2-
-
-
-
4GainND
MAMDC4p.A856V
Missense
SNP
0.287
5AmpND
MAN1B1-
-
-
-
5AmpND
MAP2K7p.X58_splice
p.X127_splice
Splice_Site
Splice_Site
SNP
SNP
0.485
0.544
2-ND
MAP3K10p.R221W
Missense
SNP
0.332
2-ND
MAP3K4p.R94H
Missense
SNP
0.415
2-ND
MAP3K9p.K595T
Missense
SNP
0.419
2-ND
MAP7D3p.Q308Rfs*2
Frame_Shift_Del
DEL
0.872
NDNDND
MAPK15-
-
-
-
3GainND
MAPKAP1-
-
-
-
5AmpND
MAPRE3p.C182Lfs*16
Frame_Shift_Ins
INS
0.272
2-ND
MARCH4p.A128T
p.C14W
Missense
Missense
SNP
SNP
0.458
0.539
2-ND
MASP1p.S529L
Missense
SNP
0.534
2-ND
MAST2p.F726Lfs*12
Frame_Shift_Del
DEL
0.388
2-ND
MAST3p.R20C
p.R1178G
Missense
Missense
SNP
SNP
0.546
0.534
2-ND
MAST4p.S1880Afs*59
Frame_Shift_Del
DEL
0.495
2-ND
MAZp.A478Pfs*47
Frame_Shift_Del
DEL
0.479
2-ND
MCIDASp.P169L
Missense
SNP
0.532
2-ND
MCM2p.G43S
Missense
SNP
0.483
2-ND
MCM4p.X392_splice
Splice_Site
SNP
0.479
2-ND
MCM5p.P383H
Missense
SNP
0.506
2-ND
MCTP1p.X871_splice
Splice_Site
SNP
0.576
2-ND
MDM4p.X26_splice
Splice_Site
DEL
0.305
2-ND
MECOMp.G679Efs*30
Frame_Shift_Del
DEL
0.146
2-ND
MED14p.D619N
Missense
SNP
1.000
NDNDND
MED22-
-
-
-
5AmpND
MED27-
-
-
-
5AmpND
MED30-
-
-
-
3GainND
MEGF8p.G1857R
Missense
SNP
0.411
2-ND
MEGF9-
-
-
-
4GainND
MELK-
-
-
-
3GainND
MEPCEp.P127Lfs*29
Frame_Shift_Del
DEL
0.495
2-ND
MESDC2p.K211Rfs*6
Frame_Shift_Del
DEL
0.471
NDNDND
MFF-
-
-
-
1LossND
MFSD14B-
-
-
-
4GainND
MFSD14C-
-
-
-
4GainND
MFSD3-
-
-
-
3GainND
MFSD4Ap.G302R
Missense
SNP
0.495
2-ND
MGAT4Bp.G6C
Missense
SNP
0.439
2-ND
MGST3p.X12_splice
Splice_Site
SNP
0.442
2-ND
MIAp.A98V
Missense
SNP
0.430
2-ND
MIB1p.S139Y
Missense
SNP
0.490
2-ND
MID1p.P563L
Missense
SNP
1.000
NDNDND
MIGA2-
-
-
-
5AmpND
MIIPp.R261H
Missense
SNP
0.535
2-ND
MINAp.L339Pfs*25
Frame_Shift_Del
DEL
0.568
NDNDND
MINPP1p.L159P
Missense
SNP
0.467
2-ND
MKL1p.A881T
Missense
SNP
0.514
NDNDND
MKL2p.X749_splice
Splice_Site
SNP
0.531
NDNDND
MKRN3p.A162Gfs*15
Frame_Shift_Ins
INS
0.250
2-ND
MLANA-
-
-
-
3GainND
MLH3p.N674Ifs*6
Frame_Shift_Del
DEL
0.278
2-ND
MLLT3p.R298Gfs*19
Frame_Shift_Del
DEL
0.730
3GainND
MLLT4p.G296E
Missense
SNP
0.592
NDNDND
MLNRp.T410M
Missense
SNP
0.429
2-ND
MLXIPp.D180Rfs*34
Frame_Shift_Ins
INS
0.325
2-ND
MLXIPLp.R307C
Missense
SNP
0.455
2-ND
MMP2p.L397P
Missense
SNP
0.477
2-ND
MN1p.P271L
Missense
SNP
0.435
2-ND
MNX1p.R268W
Missense
SNP
0.387
2-ND
MOB3B-
-
-
-
3GainND
MOBPp.R164H
Missense
SNP
0.496
2-ND
MORN5-
-
-
-
5AmpND
MPDZp.S1023N
Missense
SNP
0.656
3GainND
MPP2p.A541V
Missense
SNP
0.482
2-ND
MPP3p.A15V
Missense
SNP
0.412
2-ND
MPPED2p.T212I
Missense
SNP
0.414
2-ND
MROH1-
-
-
-
3GainND
MROH2Ap.E1462D
Missense
SNP
0.447
2-ND
MROH2Bp.N342D
Missense
SNP
0.434
2-ND
MROH5-
-
-
-
3GainND
MROH6-
-
-
-
3GainND
MROH9p.R518G
Missense
SNP
0.386
2-ND
MRPL13-
-
-
-
3GainND
MRPL28-
-
-
-
1LossND
MRPL41-
-
-
-
5AmpND
MRPL50-
-
-
-
4GainND
MRPL9p.R69Pfs*13
Frame_Shift_Ins
INS
0.284
2-ND
MRPS2-
-
-
-
5AmpND
MRRF-
-
-
-
5AmpND
MSANTD3-
-
-
-
4GainND
MSANTD3-TMEFF1-
-
-
-
4GainND
MSH3p.K383Rfs*32
Frame_Shift_Del
DEL
0.459
2-ND
MSH6p.F134Lfs*15
Frame_Shift_Del
DEL
0.572
2-ND
MSMP-
-
-
-
3GainND
MST1Rp.G755Vfs*19
Frame_Shift_Del
DEL
0.521
2-ND
MTAP-
-
-
-
3GainND
MTBP-
-
-
-
3GainND
MTSS1-
-
-
-
3GainND
MTUS2p.L105P
Missense
SNP
0.389
2-ND
MUC12-
-
-
-
3GainND
MUC16p.S7745G
Missense
SNP
0.473
2-ND
MUC17p.T1152I
p.T2499A
Missense
Missense
SNP
SNP
0.488
0.486
3GainND
MUC21p.T143P
Missense
SNP
0.430
2-ND
MUC3A-
-
-
-
3GainND
MUC4p.R4389Q
Missense
SNP
0.540
2-ND
MUC5ACp.E5060*
p.G5514C
Nonsense
Missense
SNP
SNP
0.508
0.475
2-ND
MUC5Bp.T2982M
Missense
SNP
0.518
2-ND
MUM1p.S54Afs*7
Frame_Shift_Del
DEL
0.523
2-ND
MUSK-
-
-
-
4GainND
MVB12B-
-
-
-
5AmpND
MXRA8p.R301Gfs*107
Frame_Shift_Del
DEL
0.392
2-ND
MYC-
-
-
-
3GainND
MYH1p.R1913W
Missense
SNP
0.449
2-ND
MYH13p.L1196P
Missense
SNP
0.491
2-ND
MYH14p.Q192*
Nonsense
SNP
0.500
2-ND
MYH8p.L946Rfs*3
p.Q1187P
Frame_Shift_Del
Missense
DEL
SNP
0.480
0.503
2-ND
MYMK-
-
-
-
5AmpND
MYO10p.S1226Lfs*25
Frame_Shift_Ins
INS
0.289
2-ND
MYO15Ap.Y322Tfs*122
Frame_Shift_Del
DEL
0.464
2-ND
MYO18Bp.S2331L
Missense
SNP
0.456
2-ND
MYO7Ap.E1706V
Missense
SNP
0.455
2-ND
MYOM2p.G516S
Missense
SNP
0.514
2-ND
MYORG-
-
-
-
3GainND
MYPNp.Q240P
Missense
SNP
0.431
2-ND
MYPOPp.P380Hfs*26
Frame_Shift_Del
DEL
0.366
2-ND
NAA35p.E201D
Missense
SNP
0.517
4GainND
NAALAD2p.P648L
Missense
SNP
0.562
2-ND
NAALADL1p.R198H
Missense
SNP
0.451
2-ND
NACC2-
-
-
-
5AmpND
NAIF1-
-
-
-
5AmpND
NANS-
-
-
-
4GainND
NAPRT-
-
-
-
3GainND
NAT6p.L125I
Missense
SNP
0.432
NDNDND
NAV3p.D810V
Missense
SNP
0.517
2-ND
NBASp.Y516H
Missense
SNP
0.435
2-ND
NBEAL1p.E136Rfs*14
Frame_Shift_Del
DEL
0.983
2-ND
NBNp.K320T
Missense
SNP
0.538
2-ND
NBPF6p.R515*
Nonsense
SNP
0.978
2-ND
NCAM1p.T631M
Missense
SNP
0.523
2-ND
NCBP1-
-
-
-
4GainND
NCDNp.G383V
Missense
SNP
0.464
2-ND
NCKAP5p.T1018P
Missense
SNP
0.486
2-ND
NCKIPSDp.G209Vfs*85
Frame_Shift_Del
DEL
0.520
2-ND
NCOA6p.R969W
Missense
SNP
0.407
2-ND
NCOR1p.K528Rfs*7
Frame_Shift_Del
DEL
0.500
2-ND
NCS1-
-
-
-
5AmpND
NDNp.P92L
Missense
SNP
0.441
2-ND
NDOR1-
-
-
-
5AmpND
NDRG1-
-
-
-
3GainND
NDUFA10p.H202Pfs*4
Frame_Shift_Ins
INS
0.250
2-ND
NDUFA8-
-
-
-
5AmpND
NDUFB10p.E74del
In_Frame_Del
DEL
0.428
2-ND
NDUFB6-
-
-
-
3GainND
NDUFB9-
-
-
-
3GainND
NEK6-
-
-
-
5AmpND
NEK8p.R275W
Missense
SNP
0.474
2-ND
NELFB-
-
-
-
5AmpND
NEURL1p.N163Kfs*2
Frame_Shift_Ins
INS
0.320
2-ND
NEURL4p.P220H
Missense
SNP
0.500
2-ND
NFIB-
-
-
-
3GainND
NFIL3-
-
-
-
4GainND
NFKBIBp.L292I
Missense
SNP
0.477
2-ND
NFX1-
-
-
-
3GainND
NGEFp.R354H
Missense
SNP
0.487
2-ND
NGRNp.V27Wfs*31
Frame_Shift_Del
DEL
0.556
2-ND
NIFKp.R287Dfs*23
Frame_Shift_Del
DEL
0.421
2-ND
NINp.L1963P
Missense
SNP
0.571
2-ND
NINJ1-
-
-
-
4GainND
NIPSNAP3A-
-
-
-
4GainND
NIPSNAP3B-
-
-
-
4GainND
NKAPLp.M391I
Missense
SNP
0.434
2-ND
NKX2-2p.D124Gfs*186
Frame_Shift_Ins
INS
0.292
2-ND
NKX6-1p.S49Pfs*24
Frame_Shift_Del
DEL
0.395
2-ND
NLKp.F192Lfs*30
Frame_Shift_Del
DEL
0.422
2-ND
NLRP9p.K264Rfs*12
Frame_Shift_Del
DEL
0.467
2-ND
NME4-
-
-
-
1LossND
NMRK1-
-
-
-
4GainND
NOBOXp.C497Vfs*53
Frame_Shift_Del
DEL
0.448
2-ND
NOL6-
-
-
-
3GainND
NOL8-
-
-
-
4GainND
NOP58p.K524Rfs*22
Frame_Shift_Del
DEL
0.524
2-ND
NOS1p.G676Afs*64
Frame_Shift_Del
DEL
0.371
2-ND
NOS3p.R1154H
Missense
SNP
0.480
2-ND
NOTCH1-
-
-
-
5AmpND
NOTCH2p.P1729S
Missense
SNP
0.434
2-ND
NOTCH4p.T350Hfs*4
Frame_Shift_Ins
INS
0.296
2-ND
NOV-
-
-
-
3GainND
NOXA1-
-
-
-
5AmpND
NPAP1p.C607*
Nonsense
SNP
0.426
2-ND
NPDC1-
-
-
-
5AmpND
NPHP4p.A578T
Missense
SNP
0.426
2-ND
NPR2-
-
-
-
3GainND
NPSR1p.Y219C
p.R235Q
Missense
Missense
SNP
SNP
0.588
0.462
2-ND
NPY2Rp.L305H
Missense
SNP
0.498
2-ND
NR1I2p.G178R
Missense
SNP
0.566
2-ND
NR4A3-
-
-
-
4GainND
NR5A1-
-
-
-
5AmpND
NR6A1-
-
-
-
5AmpND
NRARP-
-
-
-
5AmpND
NRBP2-
-
-
-
3GainND
NRG1p.I323L
Missense
SNP
0.563
2-ND
NRG2p.L174Cfs*6
Frame_Shift_Del
DEL
0.527
2-ND
NSMCE2-
-
-
-
3GainND
NSMF-
-
-
-
5AmpND
NT5C1Bp.Q218K
Missense
SNP
0.360
2-ND
NTMT1-
-
-
-
5AmpND
NTNG2p.A343T
Missense
SNP
0.219
5AmpND
NTRK1p.R104C
Missense
SNP
0.481
2-ND
NTRK2p.G427S
Missense
SNP
0.483
4GainND
NTRK3p.T283M
Missense
SNP
0.515
2-ND
NUDT2-
-
-
-
3GainND
NUP188-
-
-
-
5AmpND
NUP214p.V1379Gfs*60
Frame_Shift_Ins
INS
0.157
5AmpND
NUP98p.P1201H
Missense
SNP
0.432
2-ND
NUTM2F-
-
-
-
4GainND
NUTM2G-
-
-
-
4GainND
NWD2p.W1259Gfs*22
Frame_Shift_Del
DEL
0.506
2-ND
NXNL2-
-
-
-
4GainND
NXPE1p.F134Sfs*10
Frame_Shift_Del
DEL
0.417
2-ND
OBFC1p.G278Dfs*16
Frame_Shift_Del
DEL
0.479
NDNDND
OBP2A-
-
-
-
5AmpND
OBP2B-
-
-
-
5AmpND
OBSCNp.D4537Tfs*5
p.A7950Pfs*79
p.F5226S
Frame_Shift_Del
Frame_Shift_Del
Missense
DEL
DEL
SNP
0.435
0.414
0.432
2-ND
OC90-
-
-
-
3GainND
ODF2p.T710A
Missense
SNP
0.187
5AmpND
ODF3L2p.R218Pfs*33
Frame_Shift_Del
DEL
0.529
2-ND
OGN-
-
-
-
4GainND
OLFM1-
-
-
-
5AmpND
OLFM2p.V357A
Missense
SNP
0.421
2-ND
OLFML2A-
-
-
-
5AmpND
OLIG2p.A209V
Missense
SNP
0.493
2-ND
OMD-
-
-
-
4GainND
OPLAHp.G60D
Missense
SNP
0.374
3GainND
OPTNp.H26Tfs*19
Frame_Shift_Del
DEL
0.409
2-ND
OR13C2-
-
-
-
4GainND
OR13C3-
-
-
-
4GainND
OR13C4-
-
-
-
4GainND
OR13C5-
-
-
-
4GainND
OR13C8p.Y132C
Missense
SNP
0.452
4GainND
OR13C9-
-
-
-
4GainND
OR13D1-
-
-
-
4GainND
OR13F1-
-
-
-
4GainND
OR13J1-
-
-
-
3GainND
OR1B1-
-
-
-
5AmpND
OR1J1-
-
-
-
5AmpND
OR1J2-
-
-
-
5AmpND
OR1J4-
-
-
-
5AmpND
OR1K1-
-
-
-
5AmpND
OR1L1-
-
-
-
5AmpND
OR1L3-
-
-
-
5AmpND
OR1L4-
-
-
-
5AmpND
OR1L6-
-
-
-
5AmpND
OR1L8-
-
-
-
5AmpND
OR1N1-
-
-
-
5AmpND
OR1N2-
-
-
-
5AmpND
OR1Q1-
-
-
-
5AmpND
OR1S1p.I268T
Missense
SNP
0.211
2-ND
OR1S2p.M206L
Missense
SNP
0.090
2-ND
OR2B6p.N155I
Missense
SNP
0.480
2-ND
OR2K2-
-
-
-
4GainND
OR2M5p.M40I
Missense
SNP
0.427
2-ND
OR2S2p.A4Pfs*7
Frame_Shift_Del
DEL
0.282
3GainND
OR2T33p.F59V
Missense
SNP
0.373
2-ND
OR4E2p.Y123C
Missense
SNP
0.462
2-ND
OR4K13p.F223L
Missense
SNP
0.588
2-ND
OR51I2p.Q47*
Nonsense
SNP
0.534
2-ND
OR5AK2p.K307Sfs*?
Frame_Shift_Del
DEL
0.481
2-ND
OR5C1-
-
-
-
5AmpND
OR5H15p.L61S
Missense
SNP
0.554
2-ND
OR5H2p.V45M
Missense
SNP
0.466
2-ND
OR5V1p.S91Afs*18
p.F178L
Frame_Shift_Del
Missense
DEL
SNP
0.429
0.462
2-ND
OR6C75p.L200*
Frame_Shift_Del
DEL
0.486
2-ND
OR6K6p.F279Lfs*9
Frame_Shift_Del
DEL
0.426
2-ND
OR7C1p.F104Sfs*12
Frame_Shift_Del
DEL
0.512
2-ND
OR7C2p.C179Vfs*7
Frame_Shift_Del
DEL
0.494
2-ND
OR7D4p.L104*
Frame_Shift_Del
DEL
0.491
2-ND
OR8D4p.F104Sfs*48
Frame_Shift_Del
DEL
0.496
2-ND
OR8J2p.F62Sfs*73
Frame_Shift_Del
DEL
0.413
NDNDND
OR8U1p.T106A
Missense
SNP
0.503
2-ND
ORC5p.K343Nfs*17
Frame_Shift_Del
DEL
0.471
2-ND
ORM1-
-
-
-
4GainND
ORM2-
-
-
-
4GainND
OSBPL1Ap.K894Nfs*71
p.N793Mfs*15
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.456
0.473
2-ND
OSBPL8p.N184Kfs*14
Frame_Shift_Ins
INS
0.290
2-ND
OSTF1-
-
-
-
4GainND
OTOGLp.Y1637H
Missense
SNP
0.517
2-ND
OTUD1p.A264T
Missense
SNP
0.427
2-ND
OTUD4p.Q1047*
Nonsense
SNP
0.527
2-ND
OTUD7Ap.A730T
Missense
SNP
0.519
2-ND
P2RX2p.R218H
Missense
SNP
0.587
2-ND
P4HBp.N387Tfs*118
Frame_Shift_Del
DEL
0.087
2-ND
PAEP-
-
-
-
5AmpND
PALM2-
-
-
-
4GainND
PALM2-AKAP2-
-
-
-
4GainND
PAPPA-
-
-
-
4GainND
PARD3Bp.T837Rfs*13
Frame_Shift_Del
DEL
0.453
2-ND
PARLp.F330Lfs*23
Frame_Shift_Del
DEL
0.354
2-ND
PARNp.R505Q
Missense
SNP
0.471
2-ND
PARP10p.L80P
Missense
SNP
0.249
3GainND
PATZ1p.R34C
Missense
SNP
0.071
2-ND
PAX5-
-
-
-
3GainND
PAXBP1p.K231Sfs*43
Frame_Shift_Del
DEL
0.469
2-ND
PAXX-
-
-
-
5AmpND
PBDC1p.E14Gfs*21
Frame_Shift_Ins
INS
0.493
NDNDND
PBX3-
-
-
-
5AmpND
PCDH1p.E1234A
Missense
SNP
0.486
2-ND
PCDH11Yp.N405Y
Missense
SNP
1.000
NDNDND
PCDH12p.X993_splice
Splice_Site
SNP
0.604
2-ND
PCDHA13p.A605V
Missense
SNP
0.405
2-ND
PCDHA7p.C68Y
p.A512V
Missense
Missense
SNP
SNP
0.535
0.449
2-ND
PCDHAC2p.R212H
Missense
SNP
0.528
2-ND
PCDHB3p.A654V
Missense
SNP
0.227
2-ND
PCDHGA4p.C733Y
Missense
SNP
0.486
2-ND
PCDHGB6p.G571S
Missense
SNP
0.523
2-ND
PCED1Ap.P424Afs*57
Frame_Shift_Ins
INS
0.232
2-ND
PCF11p.E1410*
Frame_Shift_Ins
INS
0.320
2-ND
PCLOp.K5063Rfs*2
p.T4442I
Frame_Shift_Del
Missense
DEL
SNP
0.543
0.480
2-ND
PCNTp.R1492C
Missense
SNP
0.500
2-ND
PCSK1p.Y729Ifs*21
Frame_Shift_Del
DEL
0.466
2-ND
PCSK5-
-
-
-
4GainND
PCSK9p.X267_splice
Splice_Site
SNP
0.564
2-ND
PDCD1LG2-
-
-
-
3GainND
PDCL-
-
-
-
5AmpND
PDGFDp.R262K
Missense
SNP
0.520
2-ND
PDIA2-
-
-
-
1LossND
PDIA5p.P386Rfs*26
Frame_Shift_Del
DEL
0.540
2-ND
PDILTp.A345T
Missense
SNP
0.446
2-ND
PDLIM2p.R556H
Missense
SNP
0.500
2-ND
PDZD2p.K104Qfs*38
Frame_Shift_Ins
INS
0.285
2-ND
PEBP4p.A84T
Missense
SNP
0.586
2-ND
PEX26p.I199T
Missense
SNP
0.441
2-ND
PFKFB2p.R60H
Missense
SNP
0.494
2-ND
PFN4p.G128Efs*38
Frame_Shift_Del
DEL
0.592
2-ND
PGGT1Bp.S241Ffs*25
Frame_Shift_Ins
INS
0.364
2-ND
PGK2p.G187R
Missense
SNP
0.535
2-ND
PGM5-
-
-
-
4GainND
PGRp.K73M
Missense
SNP
0.511
2-ND
PHF19-
-
-
-
4GainND
PHF2p.K492Rfs*6
Frame_Shift_Del
DEL
0.406
4GainND
PHF20L1p.N322Mfs*42
Frame_Shift_Del
DEL
0.250
3GainND
PHF24-
-
-
-
3GainND
PHLDA1p.M256V
p.Q190H
Missense
Missense
SNP
SNP
0.517
0.053
2-ND
PHPT1-
-
-
-
5AmpND
PHYHD1-
-
-
-
5AmpND
PIBF1p.R469C
Missense
SNP
0.453
2-ND
PIEZO1p.W1717L
Missense
SNP
0.464
2-ND
PIEZO2p.F248Lfs*36
p.F182L
Frame_Shift_Del
Missense
DEL
SNP
0.523
0.524
2-ND
PIGKp.W364*
Nonsense
SNP
0.571
2-ND
PIGOp.T788Lfs*25
Frame_Shift_Del
DEL
0.237
3GainND
PIK3CAp.E545A
Missense
SNP
0.453
2-ND
PIKFYVEp.P1480S
Missense
SNP
0.431
2-ND
PIP4K2Ap.E299G
Missense
SNP
0.397
2-ND
PIP5K1B-
-
-
-
4GainND
PIP5KL1-
-
-
-
5AmpND
PKD1L1p.P780Lfs*4
Frame_Shift_Del
DEL
0.467
2-ND
PKD1L3p.I1369Nfs*8
Frame_Shift_Ins
INS
0.314
2-ND
PKHD1L1p.A894V
Missense
SNP
0.448
2-ND
PKN2p.L720Wfs*2
Frame_Shift_Del
DEL
0.440
2-ND
PKN3-
-
-
-
5AmpND
PLA2G3p.Q495R
Missense
SNP
0.533
2-ND
PLA2R1p.G1374Afs*32
Frame_Shift_Del
DEL
0.443
2-ND
PLAA-
-
-
-
3GainND
PLBD2p.Q498Sfs*36
Frame_Shift_Del
DEL
0.448
2-ND
PLCB3p.D96G
Missense
SNP
0.379
2-ND
PLEC-
-
-
-
3GainND
PLEKHA1-
-
-
-
1LossND
PLEKHG1p.P585T
Missense
SNP
0.435
2-ND
PLEKHG3p.E740*
Nonsense
SNP
0.544
2-ND
PLEKHG4Bp.R1269C
Missense
SNP
0.536
2-ND
PLEKHH1p.R979H
Missense
SNP
0.463
2-ND
PLEKHH2p.E224D
Missense
SNP
0.494
2-ND
PLGRKT-
-
-
-
3GainND
PLIN2-
-
-
-
3GainND
PLPP2p.R145K
Missense
SNP
0.451
2-ND
PLPP6-
-
-
-
3GainND
PLPP7-
-
-
-
5AmpND
PLPPR1-
-
-
-
4GainND
PLXNA1p.T1615A
Missense
SNP
0.468
2-ND
PLXNA3p.X1196_splice
Splice_Site
SNP
1.000
NDNDND
PMPCA-
-
-
-
5AmpND
PNPLA6p.T1305Rfs*17
p.R499H
Frame_Shift_Del
Missense
DEL
SNP
0.428
0.552
2-ND
PNPLA7p.I1200Sfs*148
Frame_Shift_Del
DEL
0.254
5AmpND
POLD3p.R300Kfs*9
Frame_Shift_Ins
INS
0.251
2-ND
POLEp.K1926N
Missense
SNP
0.511
2-ND
POLE3-
-
-
-
4GainND
POLR1Ap.D1691N
p.A608T
Missense
Missense
SNP
SNP
0.511
0.445
2-ND
POLR1E-
-
-
-
3GainND
POLR2Ap.P1806Lfs*108
Frame_Shift_Del
DEL
0.423
2-ND
POMT1-
-
-
-
5AmpND
POTEFp.R728Gfs*16
Frame_Shift_Del
DEL
0.286
2-ND
POU3F3p.D66Tfs*26
p.A387V
Frame_Shift_Del
Missense
DEL
SNP
0.533
0.059
2-ND
POU5F1p.I184V
Missense
SNP
0.411
2-ND
POU5F1B-
-
-
-
3GainND
PPARGC1Bp.G452D
Missense
SNP
0.534
2-ND
PPFIA2p.R1112*
Nonsense
SNP
0.378
2-ND
PPM1Lp.R14H
Missense
SNP
0.496
2-ND
PPP1R16A-
-
-
-
3GainND
PPP1R1Cp.I35S
Missense
SNP
0.537
2-ND
PPP1R26-
-
-
-
5AmpND
PPP2R5Bp.F175S
Missense
SNP
0.446
2-ND
PPP3R2-
-
-
-
4GainND
PPP6C-
-
-
-
5AmpND
PPT1p.M57Wfs*14
Frame_Shift_Del
DEL
0.442
2-ND
PPWD1p.H522R
Missense
SNP
0.379
2-ND
PRDM12-
-
-
-
5AmpND
PRKACG-
-
-
-
4GainND
PRKAR2Ap.N142Kfs*3
Frame_Shift_Ins
INS
0.325
2-ND
PRKCAp.K559Nfs*14
Frame_Shift_Del
DEL
0.498
2-ND
PRKDCp.R2143H
Missense
SNP
0.522
2-ND
PRMT9p.H244Tfs*43
Frame_Shift_Ins
INS
0.315
2-ND
PROX2p.L253R
Missense
SNP
0.580
2-ND
PRPF4-
-
-
-
4GainND
PRR32p.R201*
Nonsense
SNP
1.000
NDNDND
PRRC2B-
-
-
-
5AmpND
PRRC2Cp.A1730T
Missense
SNP
0.530
2-ND
PRRT1B-
-
-
-
5AmpND
PRRT2p.A320T
Missense
SNP
0.545
2-ND
PRRX2-
-
-
-
5AmpND
PRSS21p.S238P
Missense
SNP
0.496
2-ND
PRSS3-
-
-
-
3GainND
PRSS53p.G380Afs*13
Frame_Shift_Del
DEL
0.542
2-ND
PRUNE2-
-
-
-
4GainND
PRXL2C-
-
-
-
4GainND
PSAT1-
-
-
-
4GainND
PSCAp.S51N
Missense
SNP
0.633
3GainND
PSD4p.T777A
Missense
SNP
0.517
2-ND
PSEN1p.S178Ffs*10
Frame_Shift_Ins
INS
0.254
2-ND
PSG6p.M240V
Missense
SNP
0.495
2-ND
PSIP1-
-
-
-
3GainND
PSMB7-
-
-
-
5AmpND
PSMB9p.D71G
Missense
SNP
0.365
2-ND
PSMD5-
-
-
-
4GainND
PSME4p.T1805Pfs*69
Frame_Shift_Del
DEL
0.442
2-ND
PTAR1-
-
-
-
4GainND
PTBP3-
-
-
-
4GainND
PTCH1p.V674Gfs*19
Frame_Shift_Del
DEL
0.485
4GainND
PTGDS-
-
-
-
5AmpND
PTGES-
-
-
-
5AmpND
PTGES2-
-
-
-
5AmpND
PTGR1-
-
-
-
4GainND
PTGS1p.P85H
Missense
SNP
0.267
5AmpND
PTK2-
-
-
-
3GainND
PTP4A3-
-
-
-
3GainND
PTPA-
-
-
-
5AmpND
PTPDC1p.E662G
Missense
SNP
0.267
4GainND
PTPN3-
-
-
-
4GainND
PTPRD-
-
-
-
3GainND
PTPRFp.Q1762*
Nonsense
SNP
0.522
2-ND
PTPRGp.N119Tfs*10
Frame_Shift_Del
DEL
0.576
2-ND
PTPRMp.A748V
Missense
SNP
0.248
2-ND
PTPRN2p.V133I
Missense
SNP
0.469
2-ND
PTPROp.L481F
Missense
SNP
0.457
2-ND
PTPRQp.G130D
Missense
SNP
0.509
2-ND
PTRH1-
-
-
-
5AmpND
PTX3p.Y379N
Missense
SNP
0.451
2-ND
PUF60-
-
-
-
3GainND
PUM3-
-
-
-
3GainND
PUS7p.N333Tfs*3
Frame_Shift_Del
DEL
0.465
2-ND
PWWP2B-
-
-
-
1LossND
PYCR3-
-
-
-
3GainND
QKIp.Y328H
Missense
SNP
0.488
2-ND
QRFP-
-
-
-
5AmpND
QSOX2-
-
-
-
5AmpND
RAB11Bp.L38M
Missense
SNP
0.444
2-ND
RAB14-
-
-
-
4GainND
RAB21p.V23L
Missense
SNP
0.472
2-ND
RAB36p.K122Nfs*77
Frame_Shift_Del
DEL
0.463
2-ND
RAB42p.G81Vfs*119
Frame_Shift_Del
DEL
0.524
2-ND
RABEPK-
-
-
-
5AmpND
RABGAP1-
-
-
-
5AmpND
RABL6-
-
-
-
5AmpND
RAD21-
-
-
-
3GainND
RAD23B-
-
-
-
4GainND
RALGAPA1p.P896H
Missense
SNP
0.403
2-ND
RALGDS-
-
-
-
5AmpND
RALGPS1-
-
-
-
5AmpND
RANBP6-
-
-
-
3GainND
RAPGEF1-
-
-
-
5AmpND
RAPGEF2p.L1317R
Missense
SNP
0.484
2-ND
RAPGEF6p.S1373G
Missense
SNP
0.429
2-ND
RARRES1p.H102Q
Missense
SNP
0.462
2-ND
RASAL3p.A771P
Missense
SNP
0.528
2-ND
RASEF-
-
-
-
4GainND
RASIP1p.R70W
Missense
SNP
0.553
2-ND
RASL10Ap.R110H
Missense
SNP
0.507
2-ND
RBBP8p.K357Nfs*3
Frame_Shift_Del
DEL
0.455
2-ND
RBM10p.E487G
Missense
SNP
0.203
NDNDND
RBM18-
-
-
-
5AmpND
RBM20p.A29V
Missense
SNP
0.446
2-ND
RBM33p.P622Hfs*28
Frame_Shift_Del
DEL
0.633
2-ND
RBM47p.G61S
Missense
SNP
0.460
2-ND
RBP3p.Q627H
Missense
SNP
0.478
2-ND
RC3H2-
-
-
-
5AmpND
RCL1-
-
-
-
3GainND
RCN3p.Y125H
Missense
SNP
0.529
2-ND
RECK-
-
-
-
3GainND
RECQLp.V41Sfs*2
Frame_Shift_Del
DEL
0.449
2-ND
RECQL4-
-
-
-
3GainND
REPIN1p.S430Pfs*?
Frame_Shift_Del
DEL
0.432
2-ND
REXO4-
-
-
-
5AmpND
RFK-
-
-
-
4GainND
RFX3p.Q518H
Missense
SNP
0.610
3GainND
RGP1-
-
-
-
3GainND
RGS11-
-
-
-
1LossND
RGS12p.G1291Rfs*45
Frame_Shift_Ins
INS
0.269
2-ND
RGS22p.K518T
Missense
SNP
0.467
2-ND
RGS3-
-
-
-
4GainND
RGS9BPp.G205Vfs*23
Frame_Shift_Del
DEL
0.375
2-ND
RHCEp.V32Dfs*9
p.L387H
Frame_Shift_Ins
Missense
INS
SNP
0.227
0.415
2-ND
RHOBp.R70W
Missense
SNP
0.462
2-ND
RHOUp.N210Tfs*34
Frame_Shift_Del
DEL
0.497
2-ND
RHPN1-
-
-
-
3GainND
RIC1p.L1156*
Frame_Shift_Del
DEL
0.640
3GainND
RIF1p.K1505Rfs*18
Frame_Shift_Del
DEL
0.469
2-ND
RIMS1p.R8H
Missense
SNP
0.519
2-ND
RIMS2p.H303N
Missense
SNP
0.502
2-ND
RIN2p.P626H
Missense
SNP
0.569
2-ND
RLN1-
-
-
-
3GainND
RLN2-
-
-
-
3GainND
RMI1-
-
-
-
4GainND
RNF103p.K670Sfs*27
Frame_Shift_Del
DEL
0.436
2-ND
RNF113Bp.R67Gfs*88
Frame_Shift_Del
DEL
0.485
2-ND
RNF123p.S711R
Missense
SNP
0.563
2-ND
RNF139-
-
-
-
3GainND
RNF183-
-
-
-
4GainND
RNF20-
-
-
-
4GainND
RNF208-
-
-
-
5AmpND
RNF216p.R526C
Missense
SNP
0.386
2-ND
RNF224-
-
-
-
5AmpND
RNF34p.G5D
Missense
SNP
0.613
2-ND
RNF38-
-
-
-
3GainND
RNF43p.P370Hfs*49
p.R117Afs*41
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.487
0.521
2-ND
RNGTTp.K555R
Missense
SNP
0.432
2-ND
RNPC3-
-
-
-
1LossND
ROCK1p.K1307Nfs*3
Frame_Shift_Del
DEL
0.402
2-ND
ROR2-
-
-
-
4GainND
RORB-
-
-
-
4GainND
ROS1p.L1167*
Frame_Shift_Del
DEL
0.489
2-ND
RP11-656G20.1.
Splice_Site
SNP
0.500
NDNDND
RP11-766F14.2p.Q354H
Missense
SNP
0.519
NDNDND
RP1L1p.G290D
Missense
SNP
0.502
2-ND
RPE65p.N356Mfs*17
Frame_Shift_Del
DEL
0.544
2-ND
RPL12p.V42Lfs*15
Frame_Shift_Del
DEL
0.265
5AmpND
RPL22p.K15Rfs*5
Frame_Shift_Del
DEL
0.980
2-ND
RPL23Ap.L25R
Missense
SNP
0.505
2-ND
RPL35-
-
-
-
5AmpND
RPL7A-
-
-
-
5AmpND
RPL8-
-
-
-
3GainND
RPP25L-
-
-
-
3GainND
RPS18p.H11Y
Missense
SNP
0.505
2-ND
RPS6-
-
-
-
3GainND
RRAGA-
-
-
-
3GainND
RRP12p.C326R
Missense
SNP
0.578
2-ND
RRP9p.E70del
In_Frame_Del
DEL
0.418
2-ND
RSPH9p.R241S
Missense
SNP
0.432
2-ND
RSRP1p.Y105H
Missense
SNP
0.456
2-ND
RTKN2p.I450Lfs*67
Frame_Shift_Del
DEL
0.359
2-ND
RTL1p.R835W
Missense
SNP
0.392
2-ND
RUSC2-
-
-
-
3GainND
RXFP3p.R406H
Missense
SNP
0.570
2-ND
RXRA-
-
-
-
5AmpND
RYR1p.R177C
p.V4153A
Missense
Missense
SNP
SNP
0.487
0.519
2-ND
RYR3p.K799R
Missense
SNP
0.533
2-ND
S1PR3-
-
-
-
4GainND
SACSp.R3785Kfs*25
Frame_Shift_Ins
INS
0.308
2-ND
SALL1p.S854L
Missense
SNP
0.505
2-ND
SALL2p.A55T
Missense
SNP
0.500
2-ND
SAMD12-
-
-
-
3GainND
SAP130p.V823G
Missense
SNP
0.558
2-ND
SAPCD2-
-
-
-
5AmpND
SARDH-
-
-
-
5AmpND
SAXO1-
-
-
-
3GainND
SCAF1p.T1181Pfs*28
Frame_Shift_Del
DEL
0.431
2-ND
SCAF8p.L1062*
Frame_Shift_Del
DEL
0.461
2-ND
SCAI-
-
-
-
5AmpND
SCLT1p.A424Qfs*6
Frame_Shift_Del
DEL
0.500
2-ND
SCN1Ap.L331*
p.A104T
Frame_Shift_Del
Missense
DEL
SNP
0.398
0.537
2-ND
SCN2Ap.K496N
p.A1809V
Missense
Missense
SNP
SNP
0.491
0.534
2-ND
SCN5Ap.A185T
Missense
SNP
0.511
2-ND
SCRIBp.P1096Rfs*44
Frame_Shift_Del
DEL
0.305
3GainND
SCRT1-
-
-
-
3GainND
SCX-
-
-
-
3GainND
SDAD1p.L187P
Missense
SNP
0.319
2-ND
SEC16A-
-
-
-
5AmpND
SEC22Bp.A184T
Missense
SNP
0.517
2-ND
SEC61A2p.N241S
Missense
SNP
0.500
2-ND
SEC61Bp.M55Cfs*22
Frame_Shift_Del
DEL
0.541
4GainND
SECISBP2-
-
-
-
4GainND
SEMA4Cp.A258T
Missense
SNP
0.492
2-ND
SEMA4D-
-
-
-
4GainND
SEMA6Ap.A859T
Missense
SNP
0.528
2-ND
SEMA6Bp.R276Afs*11
Frame_Shift_Del
DEL
0.527
2-ND
SENP5p.K628Rfs*11
Frame_Shift_Del
DEL
0.457
2-ND
SEPT10p.V268A
Missense
SNP
0.523
2-ND
SERPINA11p.R314M
Missense
SNP
0.425
2-ND
SERPINB1p.M347V
Missense
SNP
0.486
2-ND
SERTAD3p.T104A
Missense
SNP
0.461
2-ND
SET-
-
-
-
5AmpND
SETD1Bp.H8Tfs*27
Frame_Shift_Del
DEL
0.505
2-ND
SETD3p.A478Qfs*2
Frame_Shift_Del
DEL
0.421
2-ND
SETD6p.F195S
Missense
SNP
0.489
2-ND
SETX-
-
-
-
5AmpND
SH2D3Ap.A389T
Missense
SNP
0.558
2-ND
SH2D3C-
-
-
-
5AmpND
SH3GL2-
-
-
-
3GainND
SH3GLB2-
-
-
-
5AmpND
SHARPIN-
-
-
-
3GainND
SHB-
-
-
-
3GainND
SHC1p.P31Rfs*35
Frame_Shift_Del
DEL
0.408
2-ND
SHC3p.V475M
Missense
SNP
0.242
4GainND
SHHp.F377S
Missense
SNP
0.491
2-ND
SHPKp.I178T
Missense
SNP
0.510
2-ND
SHQ1p.X70_splice
Splice_Site
SNP
0.455
2-ND
SHROOM1p.A724V
Missense
SNP
0.503
2-ND
SIAH3p.G96E
Missense
SNP
0.516
2-ND
SIGMAR1-
-
-
-
3GainND
SIPA1L2p.C1054Afs*194
Frame_Shift_Del
DEL
0.437
2-ND
SIRPAp.V152Rfs*39
Frame_Shift_Ins
INS
0.303
2-ND
SIRT7p.M150T
Missense
SNP
0.482
2-ND
SIT1-
-
-
-
3GainND
SKIV2Lp.X826_splice
Splice_Site
SNP
0.574
2-ND
SLA-
-
-
-
3GainND
SLC12A5p.A13Qfs*161
Frame_Shift_Del
DEL
0.440
2-ND
SLC12A8p.X131_splice
Splice_Site
SNP
0.434
2-ND
SLC14A2p.A838S
Missense
SNP
0.497
2-ND
SLC16A1p.Y293C
Missense
SNP
0.480
2-ND
SLC16A12p.F73Lfs*22
Frame_Shift_Del
DEL
0.458
2-ND
SLC16A7p.F347Lfs*53
Frame_Shift_Del
DEL
0.399
2-ND
SLC17A2p.M121Cfs*7
Frame_Shift_Del
DEL
0.397
2-ND
SLC1A1-
-
-
-
3GainND
SLC22A4p.F507Sfs*7
Frame_Shift_Del
DEL
0.488
2-ND
SLC22A8p.K419N
Missense
SNP
0.429
2-ND
SLC23A2p.L494I
Missense
SNP
0.523
2-ND
SLC24A2-
-
-
-
3GainND
SLC24A5p.A238V
Missense
SNP
0.500
2-ND
SLC25A25-
-
-
-
5AmpND
SLC25A26p.C185Y
Missense
SNP
0.571
2-ND
SLC25A51-
-
-
-
3GainND
SLC27A4-
-
-
-
5AmpND
SLC28A3-
-
-
-
4GainND
SLC2A1p.D240G
Missense
SNP
0.550
2-ND
SLC2A3p.R151W
Missense
SNP
0.247
2-ND
SLC2A6-
-
-
-
5AmpND
SLC2A8-
-
-
-
5AmpND
SLC30A3p.H205Tfs*260
Frame_Shift_Del
DEL
0.388
2-ND
SLC30A8-
-
-
-
3GainND
SLC31A1-
-
-
-
4GainND
SLC31A2-
-
-
-
4GainND
SLC34A3-
-
-
-
5AmpND
SLC35D2-
-
-
-
4GainND
SLC38A4p.K144R
Missense
SNP
0.418
2-ND
SLC39A4-
-
-
-
3GainND
SLC44A1-
-
-
-
4GainND
SLC45A4-
-
-
-
3GainND
SLC46A2p.G49R
Missense
SNP
0.471
4GainND
SLC4A5p.N292Tfs*4
p.D873G
Frame_Shift_Del
Missense
DEL
SNP
0.400
0.417
2-ND
SLC52A2-
-
-
-
3GainND
SLC6A6p.L413P
Missense
SNP
0.568
2-ND
SLC7A10p.T283A
Missense
SNP
0.481
2-ND
SLC9A5p.R270C
Missense
SNP
0.479
2-ND
SLTMp.S364P
Missense
SNP
0.578
2-ND
SLURP1-
-
-
-
3GainND
SLURP2-
-
-
-
3GainND
SLX4p.P469Hfs*4
Frame_Shift_Del
DEL
0.447
2-ND
SMARCA2-
-
-
-
3GainND
SMARCA4p.E685D
Missense
SNP
0.460
2-ND
SMC2p.T876I
Missense
SNP
0.368
4GainND
SMC4p.K855Sfs*5
Frame_Shift_Del
DEL
0.465
2-ND
SMC5p.I140V
Missense
SNP
0.200
4GainND
SMCR8p.R805H
Missense
SNP
0.484
2-ND
SMG1p.P2421L
Missense
SNP
0.486
2-ND
SMG7p.M803*
Frame_Shift_Del
DEL
0.489
2-ND
SMIM27-
-
-
-
3GainND
SMOp.P694Lfs*82
Frame_Shift_Del
DEL
0.418
2-ND
SMPD2p.D418Tfs*?
Frame_Shift_Del
DEL
0.500
2-ND
SMPD4p.R736W
Missense
SNP
0.431
2-ND
SMU1-
-
-
-
3GainND
SNAI3p.N17Tfs*92
p.A254V
Frame_Shift_Del
Missense
DEL
SNP
0.431
0.434
2-ND
SNAPC3-
-
-
-
3GainND
SNAPC4-
-
-
-
5AmpND
SNRNP35p.R78H
Missense
SNP
0.487
2-ND
SNTB1-
-
-
-
3GainND
SNTG2p.Q16*
Nonsense
SNP
0.561
2-ND
SNX30-
-
-
-
4GainND
SNX32p.X125_splice
Splice_Site
SNP
0.491
2-ND
SOHLH1-
-
-
-
5AmpND
SP7p.F95L
Missense
SNP
0.489
2-ND
SPAAR-
-
-
-
3GainND
SPACA3p.G103R
Missense
SNP
0.464
2-ND
SPACA9-
-
-
-
5AmpND
SPAG8-
-
-
-
3GainND
SPATA31A1p.A982T
Missense
SNP
0.642
3GainND
SPATA31A3-
-
-
-
3GainND
SPATA31A5-
-
-
-
3GainND
SPATA31A7-
-
-
-
3GainND
SPATA31D1-
-
-
-
4GainND
SPATA31D3-
-
-
-
4GainND
SPATA31D4-
-
-
-
4GainND
SPATA31E1-
-
-
-
4GainND
SPATA6L-
-
-
-
3GainND
SPATC1-
-
-
-
3GainND
SPEGp.R2315Gfs*38
Frame_Shift_Del
DEL
0.430
2-ND
SPENp.S44Lfs*9
p.P2055Lfs*9
p.V489I
Frame_Shift_Del
Frame_Shift_Del
Missense
DEL
DEL
SNP
0.407
0.392
0.578
2-ND
SPESP1p.A9V
Missense
SNP
0.457
2-ND
SPG11p.C526R
Missense
SNP
0.494
2-ND
SPG7p.T98A
Missense
SNP
0.530
2-ND
SPHK1p.S449G
Missense
SNP
0.399
2-ND
SPHKAPp.S50N
Missense
SNP
0.421
2-ND
SPIN1-
-
-
-
4GainND
SPINK4-
-
-
-
3GainND
SPIRE2p.P429L
Missense
SNP
0.484
2-ND
SPOUT1-
-
-
-
5AmpND
SPTAN1-
-
-
-
5AmpND
SPTBN2p.R1056H
p.M136T
Missense
Missense
SNP
SNP
0.508
0.451
2-ND
SPTLC1-
-
-
-
4GainND
SQLE-
-
-
-
3GainND
SRCp.R14W
Missense
SNP
0.088
2-ND
SRCAPp.P1878Hfs*89
Frame_Shift_Del
DEL
0.406
2-ND
SRCIN1p.S434L
Missense
SNP
0.491
2-ND
SREBF1p.S460Rfs*268
p.A173Gfs*190
Frame_Shift_Del
Frame_Shift_Ins
DEL
INS
0.449
0.341
2-ND
SRPK1p.I192N
Missense
SNP
0.580
2-ND
SRSF2p.P7Lfs*7
Frame_Shift_Del
DEL
0.441
2-ND
SSNA1-
-
-
-
5AmpND
ST3GAL1-
-
-
-
3GainND
ST6GALNAC4-
-
-
-
5AmpND
ST6GALNAC6-
-
-
-
5AmpND
ST8SIA6p.A252Pfs*53
Frame_Shift_Del
DEL
0.383
2-ND
STAB1p.P1458H
Missense
SNP
0.492
2-ND
STAMBPL1p.K405Rfs*21
Frame_Shift_Del
DEL
0.528
2-ND
STARD13p.V32A
Missense
SNP
0.416
2-ND
STIM1p.K246N
Missense
SNP
0.516
2-ND
STK11IPp.P623T
Missense
SNP
0.471
2-ND
STKLD1-
-
-
-
5AmpND
STOM-
-
-
-
4GainND
STOML2-
-
-
-
3GainND
STPG3-
-
-
-
5AmpND
STRBP-
-
-
-
5AmpND
STX17-
-
-
-
4GainND
STXBP1-
-
-
-
5AmpND
STXBP5Lp.T491Nfs*6
Frame_Shift_Ins
INS
0.308
2-ND
SUN3p.K292Nfs*9
Frame_Shift_Del
DEL
0.586
2-ND
SUOXp.L10H
Missense
SNP
0.436
2-ND
SUPT6Hp.G439V
Missense
SNP
0.521
2-ND
SURF1-
-
-
-
5AmpND
SURF2-
-
-
-
5AmpND
SURF4-
-
-
-
5AmpND
SURF6-
-
-
-
5AmpND
SUSD1-
-
-
-
4GainND
SUSD3-
-
-
-
4GainND
SUZ12p.R682C
Missense
SNP
0.490
2-ND
SVEP1p.L1338Wfs*45
p.K790Nfs*25
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.197
0.194
4GainND
SVILp.M1863Wfs*44
Frame_Shift_Del
DEL
0.590
2-ND
SWI5-
-
-
-
5AmpND
SYCP2p.X277_splice
Splice_Site
SNP
0.333
2-ND
SYDE1p.G228S
Missense
SNP
0.514
2-ND
SYK-
-
-
-
4GainND
SYN2p.P34Q
Missense
SNP
0.589
2-ND
SYNE1p.K3729E
Missense
SNP
0.453
2-ND
SYNE2p.T6593Nfs*2
Frame_Shift_Ins
INS
0.326
2-ND
SYVN1p.P364H
Missense
SNP
0.583
2-ND
TAC4p.A84Hfs*101
Frame_Shift_Del
DEL
0.510
2-ND
TACR1p.L74M
Missense
SNP
0.524
2-ND
TACR3p.D419G
p.V403M
p.A136T
Missense
Missense
Missense
SNP
SNP
SNP
0.435
0.522
0.473
2-ND
TAF1L-
-
-
-
3GainND
TAF2-
-
-
-
3GainND
TAL2-
-
-
-
4GainND
TAS2R14p.M81Nfs*7
Frame_Shift_Ins
INS
0.323
2-ND
TATDN1-
-
-
-
3GainND
TBC1D10Bp.R511W
p.P76Q
Missense
Missense
SNP
SNP
0.519
0.607
2-ND
TBC1D13-
-
-
-
5AmpND
TBC1D2-
-
-
-
4GainND
TBC1D31-
-
-
-
3GainND
TBC1D4p.R244H
Missense
SNP
0.514
2-ND
TBCA-
-
-
-
1LossND
TBX18p.E233Rfs*4
Frame_Shift_Del
DEL
0.466
2-ND
TCEA3p.X127_splice
Splice_Site
SNP
0.521
2-ND
TCF20p.L1943Cfs*118
Frame_Shift_Del
DEL
0.433
2-ND
TCL1Ap.E40K
Missense
SNP
0.516
2-ND
TDRD7-
-
-
-
4GainND
TEKp.I980*
Frame_Shift_Del
DEL
0.655
3GainND
TENM3p.V139Sfs*19
p.R2086C
Frame_Shift_Del
Missense
DEL
SNP
0.482
0.472
2-ND
TENM4p.A195T
Missense
SNP
0.504
2-ND
TEPSINp.G452Afs*72
Frame_Shift_Del
DEL
0.490
2-ND
TESK1-
-
-
-
3GainND
TEX10-
-
-
-
4GainND
TEX14p.A467Sfs*11
Frame_Shift_Ins
INS
0.287
2-ND
TEX15p.A1007Lfs*12
Frame_Shift_Del
DEL
0.530
2-ND
TEX48-
-
-
-
4GainND
TFAP2Dp.A119V
Missense
SNP
0.509
2-ND
TFGp.L49P
Missense
SNP
0.707
2-ND
TFIP11p.R346W
Missense
SNP
0.528
2-ND
TG-
-
-
-
3GainND
TGFBR1-
-
-
-
4GainND
TGFBR2p.K153Afs*3
Frame_Shift_Del
DEL
0.868
2-ND
TGFBRAP1p.A457T
Missense
SNP
0.512
2-ND
TGIF2LYp.P110L
Missense
SNP
1.000
NDNDND
THEM6-
-
-
-
3GainND
THOP1p.T261M
Missense
SNP
0.475
2-ND
THSD7Bp.P645Lfs*35
p.T782I
Frame_Shift_Del
Missense
DEL
SNP
0.433
0.484
2-ND
TIGD5-
-
-
-
3GainND
TIMM17Bp.L122Pfs*56
Frame_Shift_Ins
INS
0.474
NDNDND
TINAGL1p.X236_splice
Splice_Site
SNP
0.473
2-ND
TJP2-
-
-
-
4GainND
TKFCp.T364I
Missense
SNP
0.470
2-ND
TLDC1p.Q364Sfs*110
Frame_Shift_Del
DEL
0.101
2-ND
TLE1-
-
-
-
4GainND
TLE4-
-
-
-
4GainND
TLN1-
-
-
-
3GainND
TLR4-
-
-
-
4GainND
TLR5p.F201Lfs*20
Frame_Shift_Del
DEL
0.471
2-ND
TM2D2p.P204S
Missense
SNP
0.458
2-ND
TMBIM4p.Y221Ifs*4
Frame_Shift_Del
DEL
0.379
2-ND
TMC1-
-
-
-
4GainND
TMCC1p.F630Lfs*67
Frame_Shift_Del
DEL
0.468
2-ND
TMEFF1-
-
-
-
4GainND
TMEM117p.A31V
Missense
SNP
0.500
2-ND
TMEM120Ap.M257T
Missense
SNP
0.534
2-ND
TMEM132Ap.A434Pfs*5
Frame_Shift_Del
DEL
0.434
2-ND
TMEM132Dp.W964R
Missense
SNP
0.475
2-ND
TMEM141-
-
-
-
5AmpND
TMEM143p.G261C
Missense
SNP
0.467
2-ND
TMEM203-
-
-
-
5AmpND
TMEM210-
-
-
-
5AmpND
TMEM215-
-
-
-
3GainND
TMEM245-
-
-
-
4GainND
TMEM246-
-
-
-
4GainND
TMEM249-
-
-
-
3GainND
TMEM25p.P58Lfs*23
Frame_Shift_Del
DEL
0.058
2-ND
TMEM250-
-
-
-
5AmpND
TMEM252-
-
-
-
4GainND
TMEM268-
-
-
-
4GainND
TMEM38B-
-
-
-
4GainND
TMEM65-
-
-
-
3GainND
TMEM71-
-
-
-
3GainND
TMEM8A-
-
-
-
1LossND
TMEM8B-
-
-
-
3GainND
TMEM97p.K176Nfs*188
Frame_Shift_Del
DEL
0.371
2-ND
TMOD1-
-
-
-
4GainND
TMTC1p.S310Y
Missense
SNP
0.422
2-ND
TNC-
-
-
-
4GainND
TNFAIP8p.L94M
Missense
SNP
0.457
2-ND
TNFRSF11B-
-
-
-
3GainND
TNFSF11p.L12M
Missense
SNP
0.595
2-ND
TNFSF14p.P155L
Missense
SNP
0.503
2-ND
TNFSF15-
-
-
-
4GainND
TNFSF8-
-
-
-
4GainND
TNIKp.F1209Lfs*9
Frame_Shift_Del
DEL
0.437
2-ND
TNIP1p.K302del
In_Frame_Del
DEL
0.428
2-ND
TNK2p.R8Gfs*23
Frame_Shift_Del
DEL
0.475
2-ND
TNKS1BP1p.R1584W
Missense
SNP
0.062
2-ND
TNPO3p.M861V
Missense
SNP
0.460
2-ND
TNRC6Cp.K613E
Missense
SNP
0.505
2-ND
TOMM34p.S84I
Missense
SNP
0.458
2-ND
TOMM5-
-
-
-
3GainND
TONSL-
-
-
-
3GainND
TOP1MT-
-
-
-
3GainND
TOPAZ1p.A632Lfs*5
Frame_Shift_Del
DEL
0.357
2-ND
TOPORS-
-
-
-
3GainND
TOR1A-
-
-
-
5AmpND
TOR1B-
-
-
-
5AmpND
TOR2A-
-
-
-
5AmpND
TOR4A-
-
-
-
5AmpND
TOXp.A317V
Missense
SNP
0.558
2-ND
TOX2p.Q173H
Missense
SNP
0.498
2-ND
TPD52L3-
-
-
-
3GainND
TPM2-
-
-
-
3GainND
TPRN-
-
-
-
5AmpND
TRAF1-
-
-
-
4GainND
TRAF2p.P9Lfs*77
Frame_Shift_Del
DEL
0.256
5AmpND
TRANK1p.P972Qfs*12
p.R2388C
p.T405A
p.R396S
Frame_Shift_Del
Missense
Missense
Missense
DEL
SNP
SNP
SNP
0.481
0.559
0.506
0.507
2-ND
TRAPPC9-
-
-
-
3GainND
TRDNp.S297Lfs*8
Frame_Shift_Del
DEL
0.593
2-ND
TRERF1p.G490E
Missense
SNP
0.486
2-ND
TRIB1-
-
-
-
3GainND
TRIM14-
-
-
-
4GainND
TRIM26p.S436Kfs*8
Frame_Shift_Ins
INS
0.341
2-ND
TRIM32p.R540W
Missense
SNP
0.466
4GainND
TRIM44p.R173Sfs*12
Frame_Shift_Del
DEL
0.488
2-ND
TRIM51p.M144Cfs*15
Frame_Shift_Del
DEL
0.479
2-ND
TRIM67p.R213H
Missense
SNP
0.085
2-ND
TRIOp.G2805D
Missense
SNP
0.487
2-ND
TRMO-
-
-
-
4GainND
TRMT10B-
-
-
-
3GainND
TRMT12-
-
-
-
3GainND
TRPM2p.A177Pfs*6
p.A785Rfs*17
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.482
0.472
2-ND
TRPM3p.R1282C
Missense
SNP
0.470
4GainND
TRPM6-
-
-
-
4GainND
TRPS1-
-
-
-
3GainND
TRPT1p.F210V
Missense
SNP
0.424
2-ND
TRUB2-
-
-
-
5AmpND
TSC1-
-
-
-
5AmpND
TSHZ3p.E469D
Missense
SNP
0.500
2-ND
TSNARE1p.S141I
Missense
SNP
0.680
3GainND
TSSK6p.A258V
Missense
SNP
0.432
2-ND
TSTA3-
-
-
-
3GainND
TSTD2-
-
-
-
4GainND
TTBK1p.G198E
Missense
SNP
0.440
2-ND
TTBK2p.W603R
Missense
SNP
0.510
2-ND
TTC16-
-
-
-
5AmpND
TTC39B-
-
-
-
3GainND
TTF1-
-
-
-
5AmpND
TTI1p.A681T
Missense
SNP
0.515
2-ND
TTKp.R854Gfs*39
Frame_Shift_Del
DEL
0.306
2-ND
TTLL11-
-
-
-
5AmpND
TTLL12p.P189L
Missense
SNP
0.479
2-ND
TTLL3p.E371Rfs*44
Frame_Shift_Del
DEL
0.481
2-ND
TTNp.K13542Nfs*56
p.R12033Kfs*7
p.K22872R
p.R9840H
p.L2730R
p.K2452N
Frame_Shift_Del
Frame_Shift_Ins
Missense
Missense
Missense
Missense
DEL
INS
SNP
SNP
SNP
SNP
0.533
0.299
0.526
0.364
0.476
0.511
2-ND
TUBA1Ap.G10Wfs*30
Frame_Shift_Ins
INS
0.317
2-ND
TUBA3Dp.Q176Pfs*24
Frame_Shift_Ins
INS
0.231
2-ND
TUBB4B-
-
-
-
5AmpND
TULP4p.Q291R
Missense
SNP
0.525
2-ND
TUSC1p.W211C
Missense
SNP
0.271
3GainND
TUT1p.L115I
Missense
SNP
0.426
2-ND
TUT7-
-
-
-
4GainND
TXN-
-
-
-
4GainND
TXNDC8-
-
-
-
4GainND
TYRP1-
-
-
-
3GainND
UAP1L1-
-
-
-
5AmpND
UBA6p.F299Lfs*8
Frame_Shift_Del
DEL
0.400
2-ND
UBAC1-
-
-
-
5AmpND
UBAP1-
-
-
-
3GainND
UBAP2-
-
-
-
3GainND
UBE2R2-
-
-
-
3GainND
UBE3Cp.Q600R
Missense
SNP
0.522
2-ND
UBE4Bp.A444Hfs*14
Frame_Shift_Del
DEL
0.477
2-ND
UBQLN1-
-
-
-
4GainND
UCK1-
-
-
-
5AmpND
UEVLDp.A279S
p.R151Q
Missense
Missense
SNP
SNP
0.498
0.479
2-ND
UGCG-
-
-
-
4GainND
UGGT2p.L1246*
Frame_Shift_Del
DEL
0.611
2-ND
UHRF1BP1p.I1333Hfs*24
Frame_Shift_Ins
INS
0.258
2-ND
UHRF2-
-
-
-
3GainND
ULK4p.K593Rfs*17
Frame_Shift_Del
DEL
0.622
2-ND
UNC13B-
-
-
-
3GainND
UNC13Cp.E259*
Nonsense
SNP
0.445
2-ND
UNC79p.P39H
Missense
SNP
0.439
2-ND
UNKLp.A405Pfs*21
Frame_Shift_Del
DEL
0.365
2-ND
UPF3Ap.E267Rfs*13
Frame_Shift_Del
DEL
0.484
2-ND
URB1p.W619G
Missense
SNP
0.328
2-ND
URM1-
-
-
-
5AmpND
USP14p.Y333Lfs*2
Frame_Shift_Ins
INS
0.304
2-ND
USP2p.G88C
Missense
SNP
0.497
2-ND
USP20-
-
-
-
5AmpND
USP34p.S2127R
Missense
SNP
0.438
2-ND
USP35p.T655Pfs*23
Frame_Shift_Del
DEL
0.449
2-ND
USP42p.K1236Rfs*92
Frame_Shift_Del
DEL
0.535
2-ND
UTP23-
-
-
-
3GainND
VANGL2p.R169C
Missense
SNP
0.518
2-ND
VAPBp.R38*
Nonsense
SNP
0.437
2-ND
VARS2p.A1053T
Missense
SNP
0.402
2-ND
VAV2-
-
-
-
5AmpND
VCANp.P31L
Missense
SNP
0.545
2-ND
VCP-
-
-
-
3GainND
VCPIP1p.T177I
Missense
SNP
0.377
2-ND
VEGFAp.P363S
Missense
SNP
0.460
2-ND
VIL1p.L434R
Missense
SNP
0.523
2-ND
VIPR2p.R54W
Missense
SNP
0.467
2-ND
VLDLR-
-
-
-
3GainND
VPS13A-
-
-
-
4GainND
VPS28-
-
-
-
3GainND
VPS35p.A703Lfs*2
Frame_Shift_Del
DEL
0.473
2-ND
VSX1p.D136N
Missense
SNP
0.810
2-ND
VSX2p.G223R
Missense
SNP
0.517
2-ND
VWA7p.Q279R
Missense
SNP
0.441
2-ND
VWC2p.A288D
Missense
SNP
0.415
2-ND
WARS2p.R252H
Missense
SNP
0.510
2-ND
WASF3p.P307Rfs*28
Frame_Shift_Del
DEL
0.437
2-ND
WASHC5-
-
-
-
3GainND
WBP1p.H185Sfs*5
Frame_Shift_Ins
INS
0.276
2-ND
WDFY4p.F2760Lfs*78
Frame_Shift_Del
DEL
0.497
2-ND
WDR17p.L1171Q
Missense
SNP
0.450
2-ND
WDR24p.A38T
Missense
SNP
0.065
2-ND
WDR31-
-
-
-
4GainND
WDR34-
-
-
-
5AmpND
WDR38-
-
-
-
5AmpND
WDR5-
-
-
-
5AmpND
WDR6p.E55A
Missense
SNP
0.400
2-ND
WDR87p.S240N
Missense
SNP
0.612
2-ND
WDR97-
-
-
-
3GainND
WDYHV1-
-
-
-
3GainND
WHRNp.P320S
Missense
SNP
0.470
4GainND
WHSC1L1p.F313Lfs*67
p.F106Lfs*38
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.534
0.453
NDNDND
WISP1-
-
-
-
3GainND
WIZp.A311V
Missense
SNP
0.517
2-ND
WLSp.I449V
Missense
SNP
0.440
2-ND
WNK2-
-
-
-
4GainND
WNT3p.R176H
Missense
SNP
0.508
2-ND
WRNp.S1128Vfs*34
Frame_Shift_Del
DEL
0.070
2-ND
WSB2-
-
-
-
1LossND
WWP1p.G491D
p.X866_splice
Missense
Splice_Site
SNP
SNP
0.489
0.405
2-ND
XDHp.S289L
Missense
SNP
0.494
2-ND
XPA-
-
-
-
4GainND
XRCC3p.G285D
Missense
SNP
0.541
2-ND
XRN1p.T235Hfs*19
Frame_Shift_Del
DEL
0.500
2-ND
XYLT2p.G529Afs*78
Frame_Shift_Del
DEL
0.459
2-ND
ZBED8p.K135Sfs*11
Frame_Shift_Del
DEL
0.502
2-ND
ZBTB26-
-
-
-
5AmpND
ZBTB34-
-
-
-
5AmpND
ZBTB43-
-
-
-
5AmpND
ZBTB5-
-
-
-
3GainND
ZBTB6-
-
-
-
5AmpND
ZBTB7Cp.D132Tfs*90
Frame_Shift_Del
DEL
0.549
2-ND
ZC3H18p.X427_splice
Splice_Site
SNP
0.426
2-ND
ZC3H3-
-
-
-
3GainND
ZC3H6p.S1077Vfs*4
Frame_Shift_Del
DEL
0.052
2-ND
ZCCHC24p.R194Afs*?
Frame_Shift_Del
DEL
0.487
2-ND
ZCCHC7-
-
-
-
3GainND
ZCCHC8p.Q523P
Missense
SNP
0.467
2-ND
ZDHHC12-
-
-
-
5AmpND
ZDHHC21p.K165Sfs*15
Frame_Shift_Del
DEL
0.649
3GainND
ZDHHC7p.G83R
Missense
SNP
0.438
2-ND
ZEB2p.A7V
Missense
SNP
0.495
2-ND
ZER1-
-
-
-
5AmpND
ZFAND5-
-
-
-
4GainND
ZFAT-
-
-
-
3GainND
ZFP37-
-
-
-
4GainND
ZFP41-
-
-
-
3GainND
ZFYVE19p.K92del
In_Frame_Del
DEL
0.368
2-ND
ZFYVE26p.Q499R
Missense
SNP
0.555
2-ND
ZHX1-
-
-
-
3GainND
ZHX1-C8orf76-
-
-
-
3GainND
ZHX2-
-
-
-
3GainND
ZIC2p.H239dup
In_Frame_Ins
INS
0.189
2-ND
ZMAT1p.K232N
Missense
SNP
1.000
NDNDND
ZMPSTE24p.L362Yfs*5
Frame_Shift_Del
DEL
0.481
2-ND
ZMYM2p.K1044Rfs*33
Frame_Shift_Del
DEL
0.529
2-ND
ZMYND19-
-
-
-
5AmpND
ZNF106p.S482Pfs*33
p.S1218I
Frame_Shift_Del
Missense
DEL
SNP
0.465
0.365
2-ND
ZNF114p.Y315Ifs*6
Frame_Shift_Del
DEL
0.494
2-ND
ZNF16-
-
-
-
3GainND
ZNF160p.T90I
Missense
SNP
0.478
2-ND
ZNF169-
-
-
-
4GainND
ZNF189-
-
-
-
4GainND
ZNF250-
-
-
-
3GainND
ZNF251-
-
-
-
3GainND
ZNF281p.P92Lfs*7
Frame_Shift_Del
DEL
0.472
2-ND
ZNF34p.T222Nfs*6
Frame_Shift_Ins
INS
0.254
3GainND
ZNF367-
-
-
-
4GainND
ZNF423p.R617W
Missense
SNP
0.444
2-ND
ZNF449p.R30C
Missense
SNP
1.000
NDNDND
ZNF462-
-
-
-
4GainND
ZNF469p.S2888G
Missense
SNP
0.582
2-ND
ZNF470p.Y621C
Missense
SNP
0.508
2-ND
ZNF48p.R249Dfs*43
Frame_Shift_Del
DEL
0.543
2-ND
ZNF483-
-
-
-
4GainND
ZNF484-
-
-
-
4GainND
ZNF486p.G125Afs*22
p.K180Nfs*3
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.470
0.403
2-ND
ZNF497p.G308R
Missense
SNP
0.546
2-ND
ZNF510-
-
-
-
4GainND
ZNF517-
-
-
-
3GainND
ZNF555p.K534R
Missense
SNP
0.512
2-ND
ZNF557p.K402Nfs*40
Frame_Shift_Del
DEL
0.408
2-ND
ZNF560p.R536Q
Missense
SNP
0.467
2-ND
ZNF563p.W208Gfs*62
Frame_Shift_Del
DEL
0.444
2-ND
ZNF569p.I625V
Missense
SNP
0.510
2-ND
ZNF572-
-
-
-
3GainND
ZNF581p.R143Q
Missense
SNP
0.492
2-ND
ZNF585Bp.P224T
Missense
SNP
0.558
2-ND
ZNF618p.P723S
Missense
SNP
0.507
4GainND
ZNF623-
-
-
-
3GainND
ZNF658-
-
-
-
3GainND
ZNF696-
-
-
-
3GainND
ZNF7-
-
-
-
3GainND
ZNF707-
-
-
-
3GainND
ZNF710p.E83G
Missense
SNP
0.518
2-ND
ZNF729p.C1245W
Missense
SNP
0.414
2-ND
ZNF780Ap.A342V
Missense
SNP
0.097
2-ND
ZNF782-
-
-
-
4GainND
ZNF79-
-
-
-
5AmpND
ZNF836p.G382R
Missense
SNP
0.469
2-ND
ZNF839p.K242Nfs*3
Frame_Shift_Del
DEL
0.509
2-ND
ZNF883-
-
-
-
4GainND
ZNF90p.G179D
Missense
SNP
0.276
2-ND
ZNRF3p.V183*
Frame_Shift_Del
DEL
0.488
2-ND
ZYXp.A3T
Missense
SNP
0.466
2-ND
ZZZ3p.C24Vfs*5
Frame_Shift_Del
DEL
0.449
NDNDND