WU-0111-T1-X1P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AANATp.G193D
Missense
SNP
0.506
2--
AARD-
-
-
-
3Gain-
AARSp.G344D
Missense
SNP
0.636
2--
AASDHp.A353V
Missense
SNP
0.533
2--
ABCA13p.L585P
Missense
SNP
0.421
2--
ABCA7p.Q1069R
Missense
SNP
0.548
2--
ABCA8p.L1168*
Frame_Shift_Del
DEL
0.101
2--
ABCB10-
-
-
-
3Gain-
ABCB4p.S339Qfs*3
Frame_Shift_Del
DEL
0.528
2--
ABCC2p.K297Rfs*14
Frame_Shift_Del
DEL
0.538
2--
ABCE1p.M357Wfs*6
Frame_Shift_Del
DEL
0.431
2--
ABCF2p.M496I
Missense
SNP
0.422
2--
ABHD16Ap.S6G
Missense
SNP
0.505
2--
ABHD2p.Y256C
Missense
SNP
0.473
2--
ABHD8p.Y354C
Missense
SNP
0.455
2--
ABL2-
-
-
-
3Gain-
ABLIM1p.V259A
Missense
SNP
0.517
2--
ABRA-
-
-
-
3Gain-
ABTB1p.E252Sfs*102
Frame_Shift_Del
DEL
0.468
2--
AC004381.6p.N410Tfs*14
Frame_Shift_Del
DEL
0.475
NDND-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC012213.5-
-
-
-
3Gain-
AC013461.1p.M459Cfs*12
Frame_Shift_Del
DEL
0.558
NDND-
AC022826.2-
-
-
-
3Gain-
AC036214.3-
-
-
-
3Gain-
AC092017.3-
-
-
-
3Gain-
AC100868.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC233992.2-
-
-
-
3Gain-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
AC243756.1-
-
-
-
3Gain-
ACANp.V41I
p.T590A
p.A2161V
Missense
Missense
Missense
SNP
SNP
SNP
0.508
0.428
0.539
2--
ACBD3p.R190Gfs*43
Frame_Shift_Del
DEL
0.297
3Gain-
ACBD6-
-
-
-
3Gain-
ACKR1-
-
-
-
3Gain-
ACP6-
-
-
-
3Gain-
ACTA1-
-
-
-
3Gain-
ACTBL2p.R211*
Nonsense
SNP
0.479
2--
ACTL7Ap.L23Cfs*11
Frame_Shift_Del
DEL
0.531
2--
ACTN2p.R89W
p.P566L
Missense
Missense
SNP
SNP
0.597
0.356
3Gain-
ADAM15-
-
-
-
3Gain-
ADAM22p.D618N
Missense
SNP
0.510
2--
ADAM23p.A67Lfs*102
p.R45H
Frame_Shift_Del
Missense
DEL
SNP
0.489
0.487
2--
ADAM30p.S282Kfs*21
Frame_Shift_Ins
INS
0.256
2--
ADAMTS12p.L138Sfs*26
p.A1565V
Frame_Shift_Del
Missense
DEL
SNP
0.455
0.533
2--
ADAMTS16p.P140L
Missense
SNP
0.053
2--
ADAMTS3p.L1012R
Missense
SNP
0.553
2--
ADAMTS4-
-
-
-
3Gain-
ADAMTS8p.D840Tfs*18
Frame_Shift_Del
DEL
0.455
2--
ADAMTSL4p.G780Vfs*62
Frame_Shift_Del
DEL
0.940
3Gain-
ADAR-
-
-
-
3Gain-
ADCK5-
-
-
-
3Gain-
ADCY10-
-
-
-
3Gain-
ADCY8-
-
-
-
3Gain-
ADD1p.F185Lfs*8
Frame_Shift_Del
DEL
0.482
2--
ADGRA1p.A63T
Missense
SNP
0.394
2--
ADGRB1p.R547C
Missense
SNP
0.311
3Gain-
ADHFE1-
-
-
-
3Gain-
ADIPOR1-
-
-
-
3Gain-
ADORA1-
-
-
-
3Gain-
ADPRHL1p.A497V
Missense
SNP
0.492
2--
ADRA1Bp.R148C
Missense
SNP
0.471
2--
ADRA2Cp.R167H
Missense
SNP
0.438
2--
ADRB3p.R179H
Missense
SNP
0.442
2--
ADSS-
-
-
-
3Gain-
AFF4p.T605A
Missense
SNP
0.471
2--
AGO1p.K606Nfs*8
Frame_Shift_Del
DEL
0.391
2--
AGO2-
-
-
-
3Gain-
AGRNp.E1749Sfs*11
Frame_Shift_Del
DEL
0.420
2--
AGT-
-
-
-
3Gain-
AGTR2p.C230*
Nonsense
SNP
0.389
NDND-
AHCTF1-
-
-
-
3Gain-
AHI1p.K36Nfs*21
Frame_Shift_Del
DEL
0.538
2--
AHRp.N357Tfs*25
Frame_Shift_Del
DEL
0.683
2--
AIDA-
-
-
-
3Gain-
AIM2-
-
-
-
3Gain-
AK7p.T11P
Missense
SNP
0.469
2--
AKAP7p.K79Rfs*21
Frame_Shift_Del
DEL
0.400
2--
AKAP9p.L1754H
Missense
SNP
0.523
2--
AKNAp.D1394N
Missense
SNP
0.516
2--
AKT3-
-
-
-
3Gain-
AL117348.2-
-
-
-
3Gain-
AL139011.2-
-
-
-
3Gain-
AL139142.2-
-
-
-
3Gain-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL512785.2-
-
-
-
3Gain-
AL590132.1-
-
-
-
3Gain-
AL591806.3-
-
-
-
3Gain-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
ALDH18A1p.R94C
Missense
SNP
0.461
2--
ALDH9A1-
-
-
-
3Gain-
ALDOBp.T123I
Missense
SNP
0.623
2--
ALKAL1-
-
-
-
3Gain-
ALS2p.A1359T
Missense
SNP
0.493
2--
AMER1p.F173Lfs*36
Frame_Shift_Del
DEL
0.364
NDND-
AMER2p.A407T
p.D42E
Missense
Missense
SNP
SNP
0.496
0.463
2--
AMPD2p.R28M
Missense
SNP
0.503
2--
AMPD3p.P109Rfs*60
p.G236Afs*32
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.535
0.376
2--
ANGEL2-
-
-
-
3Gain-
ANGPT1-
-
-
-
3Gain-
ANGPTL1-
-
-
-
3Gain-
ANK3p.G664Rfs*23
Frame_Shift_Ins
INS
0.301
2--
ANKLE1p.P364T
Missense
SNP
0.466
2--
ANKRD18Ap.K708T
Missense
SNP
0.392
2--
ANKRD33Bp.P399R
Missense
SNP
0.472
2--
ANKRD34A-
-
-
-
3Gain-
ANKRD35-
-
-
-
3Gain-
ANKRD45-
-
-
-
3Gain-
ANKRD46-
-
-
-
3Gain-
ANKRD50p.A728T
Missense
SNP
0.489
2--
ANKRD52p.G52C
Missense
SNP
0.544
2--
ANO1p.P701Lfs*7
Frame_Shift_Del
DEL
0.363
2--
ANP32E-
-
-
-
3Gain-
ANPEPp.L237F
Missense
SNP
0.455
2--
ANXA13-
-
-
-
3Gain-
ANXA9-
-
-
-
3Gain-
AP3B1p.K923Nfs*4
Frame_Shift_Del
DEL
0.625
2--
APCp.R1399C
p.G1534V
Missense
Missense
SNP
SNP
0.503
0.558
2--
APCS-
-
-
-
3Gain-
APEHp.T36A
Missense
SNP
0.501
2--
APH1A-
-
-
-
3Gain-
APH1Bp.T163M
Missense
SNP
0.342
2--
APLP2p.I209V
Missense
SNP
0.553
2--
APOA2-
-
-
-
3Gain-
APOA4p.R275C
Missense
SNP
0.520
2--
APOBEC4-
-
-
-
3Gain-
AQP10-
-
-
-
3Gain-
AQP2p.E250D
Missense
SNP
0.490
2--
ARC-
-
-
-
3Gain-
ARF1-
-
-
-
5Amp-
ARFGEF1-
-
-
-
3Gain-
ARFGEF2p.V568M
Missense
SNP
0.422
2--
ARHGAP30-
-
-
-
3Gain-
ARHGAP31p.W965C
Missense
SNP
0.635
2--
ARHGAP36p.R164H
Missense
SNP
0.441
NDND-
ARHGAP39-
-
-
-
3Gain-
ARHGAP44p.S295Lfs*5
Frame_Shift_Del
DEL
0.497
2--
ARHGEF11-
-
-
-
3Gain-
ARHGEF2-
-
-
-
3Gain-
ARHGEF26p.K386T
Missense
SNP
0.534
2--
ARHGEF38p.K464Rfs*26
Frame_Shift_Del
DEL
0.520
2--
ARHGEF40p.A737Pfs*3
Frame_Shift_Del
DEL
0.517
2--
ARHGEF7p.T23Pfs*13
Frame_Shift_Del
DEL
0.522
2--
ARHGEF9p.R216H
Missense
SNP
0.468
NDND-
ARID1Ap.G276Efs*87
p.Q2115H
Frame_Shift_Del
Missense
DEL
SNP
0.496
0.564
2--
ARID2p.E1332K
Missense
SNP
0.421
2--
ARID4B-
-
-
-
3Gain-
ARL8A-
-
-
-
3Gain-
ARMC1-
-
-
-
3Gain-
ARMCX2p.A99V
Missense
SNP
0.497
NDND-
ARNT-
-
-
-
3Gain-
ARNTLp.A316T
Missense
SNP
0.452
2--
ARPC5-
-
-
-
3Gain-
ARRDC2p.G122V
Missense
SNP
0.450
2--
ARSEp.C111Y
Missense
SNP
0.420
NDND-
ARV1-
-
-
-
3Gain-
ASAP1-
-
-
-
3Gain-
ASB8p.R135W
Missense
SNP
0.502
2--
ASCL5-
-
-
-
3Gain-
ASH1Lp.T2895Qfs*44
p.R712Kfs*10
Frame_Shift_Del
Frame_Shift_Ins
DEL
INS
0.688
0.404
3Gain-
ASPH-
-
-
-
3Gain-
ASPM-
-
-
-
3Gain-
ASTN1-
-
-
-
3Gain-
ASXL1p.G645Wfs*12
Frame_Shift_Del
DEL
0.441
2--
ATAD2-
-
-
-
3Gain-
ATF3-
-
-
-
3Gain-
ATF5p.L37Wfs*31
Frame_Shift_Del
DEL
0.453
2--
ATF6-
-
-
-
3Gain-
ATICp.R172H
Missense
SNP
0.509
2--
ATOH1p.A94G
Missense
SNP
0.350
2--
ATOH8p.P169Qfs*30
Frame_Shift_Del
DEL
0.444
2--
ATP10Ap.P13Afs*176
Frame_Shift_Ins
INS
0.319
2--
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP2B4-
-
-
-
3Gain-
ATP6V0D2-
-
-
-
3Gain-
ATP6V1C1-
-
-
-
3Gain-
ATP6V1G3-
-
-
-
3Gain-
ATP6V1H-
-
-
-
3Gain-
ATP8B2-
-
-
-
3Gain-
ATP9Bp.P147H
Missense
SNP
0.431
2--
ATRp.I774Yfs*5
Frame_Shift_Del
DEL
0.579
2--
ATRIPp.S178I
Missense
SNP
0.484
2--
ATXN1Lp.R684C
Missense
SNP
0.564
2--
ATXN7p.T781Pfs*11
Frame_Shift_Del
DEL
0.449
2--
AUTS2p.G1229D
Missense
SNP
0.466
2--
AVENp.S94N
Missense
SNP
0.321
2--
AVPR1B-
-
-
-
3Gain-
AXDND1-
-
-
-
3Gain-
AZIN1-
-
-
-
3Gain-
B3GALNT2-
-
-
-
3Gain-
B3GALT2-
-
-
-
3Gain-
B4GALNT1p.G88Afs*24
Frame_Shift_Del
DEL
0.495
2--
B4GALT3-
-
-
-
3Gain-
BAALC-
-
-
-
3Gain-
BACH1p.A665V
Missense
SNP
0.495
2--
BAHD1p.R613*
Nonsense
SNP
0.553
2--
BAP1p.R717W
p.R150H
Missense
Missense
SNP
SNP
0.533
0.465
2--
BASP1p.A192V
Missense
SNP
0.475
2--
BATF3-
-
-
-
3Gain-
BAZ2Bp.K2048Nfs*19
Frame_Shift_Del
DEL
0.333
2--
BBOF1p.X192_splice
Splice_Site
SNP
0.364
2--
BCAN-
-
-
-
3Gain-
BCAR1p.G531C
Missense
SNP
0.493
2--
BCL11Bp.S560L
Missense
SNP
0.471
2--
BCL6p.A172T
Missense
SNP
0.559
2--
BCL9-
-
-
-
3Gain-
BCORp.K839Sfs*17
p.E1272*
Frame_Shift_Del
Nonsense
DEL
SNP
0.508
0.470
NDND-
BECN2-
-
-
-
3Gain-
BEST1p.E320del
In_Frame_Del
DEL
0.472
2--
BGLAP-
-
-
-
3Gain-
BHLHE22-
-
-
-
3Gain-
BLVRAp.I40M
Missense
SNP
0.435
2--
BLZF1-
-
-
-
3Gain-
BMP10p.C389*
Nonsense
SNP
0.484
2--
BMP2p.Y78Tfs*3
Frame_Shift_Del
DEL
0.467
2--
BMP2Kp.H494del
In_Frame_Del
DEL
0.296
2--
BMPERp.D576N
Missense
SNP
0.478
2--
BMPR2p.N583Tfs*44
p.X140_splice
Frame_Shift_Del
Splice_Site
DEL
SNP
0.461
0.476
2--
BMXp.K448E
Missense
SNP
0.538
NDND-
BNC1p.E315Kfs*6
Frame_Shift_Del
DEL
0.333
2--
BNIPL-
-
-
-
3Gain-
BOD1L1p.E1614Kfs*29
Frame_Shift_Del
DEL
0.480
2--
BOLA1-
-
-
-
3Gain-
BOP1-
-
-
-
3Gain-
BPNT1-
-
-
-
3Gain-
BRD2p.R322H
p.R580H
Missense
Missense
SNP
SNP
0.483
0.438
2--
BRD4p.Q256Sfs*27
Frame_Shift_Del
DEL
0.365
2--
BRDTp.L323P
Missense
SNP
0.422
2--
BRINP1p.N665T
Missense
SNP
0.540
2--
BRINP2-
-
-
-
3Gain-
BRINP3-
-
-
-
3Gain-
BRMS1p.L108Cfs*22
Frame_Shift_Del
DEL
0.539
2--
BROX-
-
-
-
3Gain-
BRWD3p.R905I
Missense
SNP
0.520
NDND-
BSNp.S183Afs*30
Frame_Shift_Del
DEL
0.417
2--
BTF3L4p.K45Nfs*4
Frame_Shift_Del
DEL
0.360
2--
BTG2-
-
-
-
3Gain-
BTN1A1p.L456Sfs*15
Frame_Shift_Del
DEL
0.534
2--
C10orf35p.R69Q
Missense
SNP
0.487
NDND-
C10orf71p.A1054V
Missense
SNP
0.486
2--
C11orf57p.K161Sfs*20
Frame_Shift_Del
DEL
0.281
NDND-
C11orf74p.V132I
p.S133I
Missense
Missense
SNP
SNP
0.545
0.550
2--
C11orf80p.E602del
In_Frame_Del
DEL
0.466
2--
C15orf39p.Y388Wfs*68
Frame_Shift_Del
DEL
0.382
2--
C15orf52p.T204Hfs*56
Frame_Shift_Ins
INS
0.332
NDND-
C16orf62p.D851N
Missense
SNP
0.455
NDND-
C18orf8p.S401P
Missense
SNP
0.468
NDND-
C19orf81p.D166V
Missense
SNP
0.529
2--
C1orf100-
-
-
-
3Gain-
C1orf105-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf131-
-
-
-
3Gain-
C1orf186p.A28V
Missense
SNP
0.604
NDND-
C1orf189-
-
-
-
3Gain-
C1orf198-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf226p.H64Tfs*42
Frame_Shift_Del
DEL
0.317
3Gain-
C1orf35-
-
-
-
5Amp-
C1orf43-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1Sp.K281Rfs*39
Frame_Shift_Del
DEL
0.561
2--
C2CD3p.R18Efs*3
Frame_Shift_Del
DEL
0.446
2--
C2CD4D-
-
-
-
3Gain-
C2orf54p.T45M
Missense
SNP
0.068
NDND-
C3orf67p.I191M
Missense
SNP
0.341
2--
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
C4orf3p.L46I
Missense
SNP
0.455
2--
C4orf50p.L1489F
Missense
SNP
0.455
2--
C7orf62p.F125Lfs*5
Frame_Shift_Del
DEL
0.645
NDND-
C8orf33-
-
-
-
3Gain-
C8orf34-
-
-
-
3Gain-
C8orf37-
-
-
-
3Gain-
C8orf44-
-
-
-
3Gain-
C8orf59-
-
-
-
3Gain-
C8orf76-
-
-
-
3Gain-
C8orf82-
-
-
-
3Gain-
C8orf88-
-
-
-
3Gain-
C8orf89-
-
-
-
3Gain-
C9-
-
-
-
1Loss-
C9orf114p.S271G
Missense
SNP
0.528
NDND-
C9orf131p.C344Afs*49
Frame_Shift_Del
DEL
0.434
2--
C9orf57p.R35H
Missense
SNP
0.386
2--
CA1-
-
-
-
3Gain-
CA13p.S61N
Missense
SNP
0.338
3Gain-
CA14-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA4p.D120G
Missense
SNP
0.550
2--
CA7p.V257M
Missense
SNP
0.467
2--
CA8-
-
-
-
3Gain-
CACNA1Bp.L37Cfs*64
Frame_Shift_Del
DEL
0.261
2--
CACNA1Cp.C1582Y
Missense
SNP
0.474
2--
CACNA1Dp.R1531H
Missense
SNP
0.523
2--
CACNA1Ep.A1445V
p.A1453T
p.Y2054C
Missense
Missense
Missense
SNP
SNP
SNP
0.226
0.638
0.686
3Gain-
CACNA1S-
-
-
-
3Gain-
CACTINp.P501T
Missense
SNP
0.410
2--
CACUL1p.G11Afs*6
Frame_Shift_Del
DEL
0.484
2--
CACYBP-
-
-
-
3Gain-
CADp.Q1172Tfs*37
p.G1444E
Frame_Shift_Ins
Missense
INS
SNP
0.332
0.506
2--
CADM3-
-
-
-
3Gain-
CADPSp.L78Cfs*20
Frame_Shift_Del
DEL
0.462
2--
CALB1-
-
-
-
3Gain-
CALD1p.Q529Rfs*76
Frame_Shift_Del
DEL
0.404
2--
CAMK1G-
-
-
-
3Gain-
CAMK4p.I34V
Missense
SNP
0.450
2--
CAMSAP2p.K1263Nfs*19
Frame_Shift_Del
DEL
0.354
3Gain-
CAMTA1p.K1589Nfs*33
Frame_Shift_Del
DEL
0.478
2--
CAPN10p.V443Wfs*32
Frame_Shift_Del
DEL
0.428
2--
CAPN2-
-
-
-
3Gain-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CASKIN2p.G979Afs*141
Frame_Shift_Del
DEL
0.438
2--
CASP8AP2p.S916T
Missense
SNP
0.406
2--
CASQ1-
-
-
-
3Gain-
CASS4p.T778M
Missense
SNP
0.498
2--
CATSPER3p.I120V
Missense
SNP
0.536
2--
CATSPERE-
-
-
-
3Gain-
CBLL1p.Q183R
Missense
SNP
0.514
2--
CCDC112p.E306Sfs*20
Frame_Shift_Del
DEL
0.655
2-PGGT1B--CCDC112
CCDC154p.E62A
Missense
SNP
0.446
2--
CCDC166-
-
-
-
3Gain-
CCDC18p.V259Wfs*15
Frame_Shift_Del
DEL
0.389
2--
CCDC181p.K369Rfs*6
Frame_Shift_Del
DEL
0.255
3Gain-
CCDC185-
-
-
-
3Gain-
CCDC190-
-
-
-
3Gain-
CCDC3p.A19P
Missense
SNP
0.547
2--
CCDC7p.V218M
Missense
SNP
0.439
2--
CCDC88Ap.R218W
Missense
SNP
0.522
2--
CCNE2-
-
-
-
3Gain-
CCNHp.G296C
Missense
SNP
0.512
2--
CCR2p.R231Q
Missense
SNP
0.461
2--
CCSAP-
-
-
-
3Gain-
CCSER2p.S985Qfs*14
Frame_Shift_Del
DEL
0.513
2--
CCT3-
-
-
-
3Gain-
CD160-
-
-
-
3Gain-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD34-
-
-
-
3Gain-
CD3Gp.K71Nfs*40
Frame_Shift_Del
DEL
0.482
2--
CD46-
-
-
-
3Gain-
CD48-
-
-
-
3Gain-
CD55-
-
-
-
3Gain-
CD5L-
-
-
-
3Gain-
CD84-
-
-
-
3Gain-
CDC42BPA-
-
-
-
3Gain-
CDC42BPBp.V1065M
Missense
SNP
0.509
2--
CDC42EP1p.P114H
Missense
SNP
0.512
2--
CDC42SE1-
-
-
-
3Gain-
CDC7p.R411*
Nonsense
SNP
0.488
2--
CDC73p.I182Lfs*20
Frame_Shift_Del
DEL
0.305
3Gain-
CDCP1p.A354T
Missense
SNP
0.482
2--
CDH17p.A639V
Missense
SNP
0.214
3Gain-
CDH23p.D552G
Missense
SNP
0.589
2--
CDH24p.P712Rfs*129
Frame_Shift_Del
DEL
0.477
2--
CDH4p.P594Rfs*35
Frame_Shift_Del
DEL
0.381
2--
CDH8p.A194T
Missense
SNP
0.458
2--
CDHR2p.S155Y
Missense
SNP
0.430
2--
CDK14p.Y246H
Missense
SNP
0.391
2--
CDK18-
-
-
-
3Gain-
CDK20p.H319Pfs*4
Frame_Shift_Ins
INS
0.233
2--
CDKL2p.K74Nfs*5
Frame_Shift_Del
DEL
0.491
2--
CDO1p.N128Tfs*15
Frame_Shift_Del
DEL
0.517
2--
CELp.V596Cfs*111
p.V662Cfs*45
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.427
0.947
2--
CELF2p.F456L
Missense
SNP
0.670
2--
CELF3-
-
-
-
3Gain-
CELSR1p.T1849Rfs*8
p.D2356G
p.P1128L
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.509
0.449
0.450
2--
CELSR3p.A2156Pfs*38
p.S1734I
Frame_Shift_Del
Missense
DEL
SNP
0.398
0.468
2--
CENPF-
-
-
-
3Gain-
CENPIp.A124V
Missense
SNP
0.361
NDND-
CENPL-
-
-
-
3Gain-
CEP120p.P139L
Missense
SNP
0.457
2--
CEP128p.R232H
Missense
SNP
0.400
2--
CEP170-
-
-
-
3Gain-
CEP290p.I2293V
Missense
SNP
0.509
2--
CEP350-
-
-
-
3Gain-
CERS2-
-
-
-
3Gain-
CFAP126-
-
-
-
3Gain-
CFAP45-
-
-
-
3Gain-
CFAP47p.R1623Gfs*2
Frame_Shift_Del
DEL
0.389
NDND-
CFH-
-
-
-
3Gain-
CFHR1p.N94Kfs*37
Frame_Shift_Del
DEL
0.631
3Gain-
CFHR2-
-
-
-
3Gain-
CFHR3-
-
-
-
3Gain-
CFHR4p.E519D
Missense
SNP
0.565
3Gain-
CFHR5-
-
-
-
3Gain-
CGB1p.K122N
Missense
SNP
0.457
NDND-
CGN-
-
-
-
3Gain-
CHCHD7-
-
-
-
3Gain-
CHD1L-
-
-
-
3Gain-
CHD3p.R599Vfs*16
Frame_Shift_Del
DEL
0.498
2--
CHD7p.D2988Mfs*3
Frame_Shift_Del
DEL
0.253
3Gain-
CHD8p.R493L
Missense
SNP
0.391
2--
CHI3L1-
-
-
-
3Gain-
CHIT1-
-
-
-
3Gain-
CHMp.X450_splice
Splice_Site
SNP
0.150
NDND-
CHML-
-
-
-
3Gain-
CHMP4C-
-
-
-
3Gain-
CHRAC1-
-
-
-
3Gain-
CHRM3-
-
-
-
3Gain-
CHRNB2-
-
-
-
3Gain-
CHST4p.K265E
Missense
SNP
0.514
2--
CHST8p.G284S
Missense
SNP
0.503
2--
CHTOP-
-
-
-
3Gain-
CIART-
-
-
-
3Gain-
CIITAp.T166Lfs*3
p.A657Pfs*30
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.504
0.442
2--
CKLFp.E150Kfs*?
Frame_Shift_Del
DEL
0.350
2--
CKS1B-
-
-
-
3Gain-
CLASP2p.T1143I
Missense
SNP
0.568
2--
CLCN4p.E682Sfs*10
Frame_Shift_Del
DEL
0.498
NDND-
CLDN11p.A83T
Missense
SNP
0.559
2--
CLEC16Ap.L611Wfs*11
Frame_Shift_Del
DEL
0.079
2--
CLK2-
-
-
-
3Gain-
CLK3p.Q77H
Missense
SNP
0.433
2--
CLOCKp.L123*
p.R97*
Frame_Shift_Del
Nonsense
DEL
SNP
0.682
0.328
2--
CLPBp.I521V
Missense
SNP
0.532
2--
CLSTN3p.A640T
Missense
SNP
0.521
2--
CLUHp.R595Afs*27
p.Q67Rfs*93
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.494
0.403
2--
CLVS1-
-
-
-
3Gain-
CMC4p.C12Lfs*50
Frame_Shift_Del
DEL
0.383
NDND-
CNBD1-
-
-
-
3Gain-
CNGB3-
-
-
-
3Gain-
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNOT1p.Q1748H
Missense
SNP
0.513
2--
CNOT11p.I484M
Missense
SNP
0.516
2--
CNST-
-
-
-
3Gain-
CNTLNp.P14Qfs*76
p.A72Qfs*18
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.492
0.524
2--
CNTN2-
-
-
-
3Gain-
CNTN3p.S33I
Missense
SNP
0.649
2--
CNTRLp.K838E
Missense
SNP
0.537
2--
COA6-
-
-
-
3Gain-
COBLp.R334*
Nonsense
SNP
0.414
2--
COG2-
-
-
-
3Gain-
COG6p.K82N
Missense
SNP
0.558
2--
COG8p.P301T
Missense
SNP
0.538
2--
COL12A1p.G854Vfs*8
Frame_Shift_Del
DEL
0.405
2--
COL14A1-
-
-
-
3Gain-
COL16A1p.G453Afs*8
Frame_Shift_Del
DEL
0.705
2--
COL18A1p.L376Pfs*101
Frame_Shift_Ins
INS
0.270
2--
COL1A1p.G869V
Missense
SNP
0.536
2--
COL3A1p.G375*
Nonsense
SNP
0.057
2--
COL4A1p.R1063*
Nonsense
SNP
0.574
2--
COL5A1p.X679_splice
Splice_Site
INS
0.311
2--
COL5A3p.P1453Qfs*7
Frame_Shift_Del
DEL
0.466
2--
COL7A1p.P2029Lfs*177
Frame_Shift_Del
DEL
0.498
2--
COL9A1p.P301Rfs*27
Frame_Shift_Del
DEL
0.440
2--
COLEC10p.G218R
Missense
SNP
0.350
3Gain-
COLGALT2p.W262R
Missense
SNP
0.104
3Gain-
COMMD5-
-
-
-
3Gain-
COMTD1p.V232Afs*?
Frame_Shift_Del
DEL
0.441
2--
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPS5-
-
-
-
3Gain-
COQ8A-
-
-
-
3Gain-
COX20-
-
-
-
3Gain-
COX6C-
-
-
-
3Gain-
CPA6-
-
-
-
3Gain-
CPDp.A231Rfs*38
Frame_Shift_Ins
INS
0.259
2--
CPNE3-
-
-
-
3Gain-
CPQ-
-
-
-
3Gain-
CPSF1-
-
-
-
3Gain-
CPSF6p.A488V
Missense
SNP
0.659
2--
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CRABP2-
-
-
-
3Gain-
CRB1-
-
-
-
3Gain-
CRCT1-
-
-
-
3Gain-
CREB3L4-
-
-
-
3Gain-
CREG1-
-
-
-
3Gain-
CRH-
-
-
-
3Gain-
CRISPLD1-
-
-
-
3Gain-
CRNN-
-
-
-
3Gain-
CRP-
-
-
-
3Gain-
CRTC2-
-
-
-
3Gain-
CRYGAp.G159Vfs*9
Frame_Shift_Del
DEL
0.429
2--
CSKp.A316V
Missense
SNP
0.535
2--
CSMD3-
-
-
-
3Gain-
CSPP1p.L594R
Missense
SNP
0.231
3Gain-
CSRP1-
-
-
-
3Gain-
CST4p.R66H
Missense
SNP
0.491
2--
CTAGE9p.L59Cfs*27
Frame_Shift_Del
DEL
0.437
2--
CTBP1p.P412S
Missense
SNP
0.462
2--
CTD-3214H19.16p.L88I
Missense
SNP
0.533
NDND-
CTDP1p.V626M
Missense
SNP
0.454
2--
CTHRC1p.L137Kfs*28
Frame_Shift_Del
DEL
0.328
3Gain-
CTNND2p.T336Pfs*14
Frame_Shift_Del
DEL
0.465
2--
CTSE-
-
-
-
3Gain-
CTSFp.C95Y
Missense
SNP
0.436
2--
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CYB5R1-
-
-
-
3Gain-
CYC1-
-
-
-
3Gain-
CYHR1-
-
-
-
3Gain-
CYP11B1-
-
-
-
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP27A1p.W449L
Missense
SNP
0.073
2--
CYP27B1p.L58Cfs*20
Frame_Shift_Del
DEL
0.459
2--
CYP4Z1p.P50Lfs*14
Frame_Shift_Del
DEL
0.460
2--
CYP7A1-
-
-
-
3Gain-
CYP7B1-
-
-
-
3Gain-
CYSLTR1p.L260Yfs*20
Frame_Shift_Del
DEL
0.504
NDND-
CYTH2p.L305Wfs*4
Frame_Shift_Del
DEL
0.417
2--
DAB1p.V184G
Missense
SNP
0.547
2--
DAB2-
-
-
-
1Loss-
DAB2IPp.A194V
Missense
SNP
0.518
2--
DACT1p.Y267C
Missense
SNP
0.515
2--
DACT3p.A518V
Missense
SNP
0.538
2--
DAP3-
-
-
-
3Gain-
DARS2-
-
-
-
3Gain-
DBNDD2p.S78G
Missense
SNP
0.541
2--
DCAF13-
-
-
-
3Gain-
DCAF4L2-
-
-
-
3Gain-
DCAF6-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCDp.K42T
Missense
SNP
0.055
2--
DCDC2p.A153P
Missense
SNP
0.461
2--
DCDC2Cp.A40T
Missense
SNP
0.475
2--
DCHS1p.P3113Qfs*13
Frame_Shift_Del
DEL
0.400
2--
DCPSp.R315H
Missense
SNP
0.487
2--
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCSTAMP-
-
-
-
3Gain-
DDHD1p.R458Q
Missense
SNP
0.478
2--
DDOSTp.E303del
In_Frame_Del
DEL
0.472
2--
DDR2-
-
-
-
3Gain-
DDX11p.A381V
Missense
SNP
0.059
2--
DDX55p.E510K
Missense
SNP
0.341
2--
DDX59-
-
-
-
3Gain-
DDX60p.L1133Yfs*4
Frame_Shift_Del
DEL
0.419
2--
DECR1-
-
-
-
3Gain-
DEDD-
-
-
-
3Gain-
DEGS1-
-
-
-
3Gain-
DENND1B-
-
-
-
3Gain-
DENND3-
-
-
-
3Gain-
DENND4Bp.L102Sfs*197
Frame_Shift_Del
DEL
0.391
3Gain-
DEPTOR-
-
-
-
3Gain-
DERL1-
-
-
-
3Gain-
DESI2-
-
-
-
3Gain-
DGAT1-
-
-
-
3Gain-
DGAT2p.V85L
Missense
SNP
0.355
2--
DGKHp.T1118A
Missense
SNP
0.370
2--
DHRS13p.H340Tfs*23
Frame_Shift_Del
DEL
0.417
2--
DHX37p.I709N
Missense
SNP
0.482
2--
DHX57p.R723H
Missense
SNP
0.512
2--
DHX9p.Q249R
p.Y1234D
Missense
Missense
SNP
SNP
0.378
0.329
3Gain-
DIAPH2p.A6V
Missense
SNP
0.449
NDND-
DIS3L2p.X833_splice
Splice_Site
SNP
0.506
2--
DISC1-
-
-
-
3Gain-
DISP1p.I1369N
Missense
SNP
0.263
3Gain-
DLC1p.R617Gfs*37
Frame_Shift_Del
DEL
0.456
2--
DLEC1p.V944I
Missense
SNP
0.509
2--
DLG3p.T365Pfs*37
Frame_Shift_Del
DEL
0.465
NDND-
DLX6p.Q44del
In_Frame_Del
DEL
0.365
2--
DMDp.R691M
Missense
SNP
0.418
NDND-
DNAH12p.K1090Sfs*9
Frame_Shift_Del
DEL
0.461
2--
DNAH14p.L286Wfs*13
Frame_Shift_Del
DEL
0.522
3Gain-
DNAH5p.I1855Sfs*16
Frame_Shift_Del
DEL
0.400
2--
DNAH7p.I566F
Missense
SNP
0.442
2--
DNAJB4p.N303Ifs*9
Frame_Shift_Del
DEL
0.129
2--
DNAJB7p.K295Rfs*25
Frame_Shift_Del
DEL
0.520
2--
DNAJC5B-
-
-
-
3Gain-
DNHD1p.R43Afs*8
p.D30N
p.E1256V
p.A2900T
Frame_Shift_Del
Missense
Missense
Missense
DEL
SNP
SNP
SNP
0.442
0.458
0.495
0.526
2--
DNM3-
-
-
-
3Gain-
DOCK1p.V327L
Missense
SNP
0.474
2--
DOCK3p.A1793T
Missense
SNP
0.477
2--
DOCK7p.F473L
Missense
SNP
0.173
2--
DOPEY2p.Q1486*
Nonsense
SNP
0.499
NDND-
DPM3-
-
-
-
3Gain-
DPP6p.A39T
Missense
SNP
0.511
2--
DPT-
-
-
-
3Gain-
DPY19L4-
-
-
-
3Gain-
DPYS-
-
-
-
3Gain-
DSCAMp.E1093Rfs*47
Frame_Shift_Ins
INS
0.459
2--
DSCC1-
-
-
-
3Gain-
DSTYK-
-
-
-
3Gain-
DTL-
-
-
-
3Gain-
DTNAp.V204A
Missense
SNP
0.557
2--
DUSP10-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP23-
-
-
-
3Gain-
DUSP27-
-
-
-
3Gain-
DYNC2H1p.E436K
Missense
SNP
0.649
2--
DYNC2LI1p.L238M
Missense
SNP
0.567
2--
DYRK3-
-
-
-
3Gain-
E2F5p.K107Sfs*11
Frame_Shift_Del
DEL
0.258
3Gain-
EBAG9-
-
-
-
3Gain-
EBF4p.P177H
Missense
SNP
0.544
2--
ECE1p.P31H
Missense
SNP
0.523
2--
ECE2p.R233Dfs*65
Frame_Shift_Del
DEL
0.436
2--
ECM1-
-
-
-
3Gain-
ECT2Lp.R225H
Missense
SNP
0.517
2--
EDARADD-
-
-
-
3Gain-
EDC3p.A471T
Missense
SNP
0.495
2--
EDEM3-
-
-
-
3Gain-
EDNRBp.A74V
Missense
SNP
0.452
2--
EEF1A2p.T239Rfs*40
Frame_Shift_Del
DEL
0.430
2--
EEF1Dp.P507Qfs*144
Frame_Shift_Del
DEL
0.310
3Gain-
EFCAB1-
-
-
-
3Gain-
EFCAB2-
-
-
-
3Gain-
EFCAB8p.L1082Wfs*18
Frame_Shift_Del
DEL
0.465
2--
EFNA1-
-
-
-
3Gain-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFR3A-
-
-
-
3Gain-
EGLN1-
-
-
-
3Gain-
EHD4p.H527Tfs*37
Frame_Shift_Del
DEL
0.461
2--
EHMT2p.H33Tfs*28
Frame_Shift_Del
DEL
0.451
2--
EIF2AK3p.T244Lfs*62
Frame_Shift_Del
DEL
0.429
2--
EIF2AK4p.R1146H
Missense
SNP
0.354
2--
EIF2B1p.W272L
Missense
SNP
0.529
2--
EIF2D-
-
-
-
3Gain-
EIF3Bp.Q104R
p.R751C
Missense
Missense
SNP
SNP
0.506
0.398
2--
EIF3E-
-
-
-
3Gain-
EIF3H-
-
-
-
3Gain-
EIF4G1p.P695S
Missense
SNP
0.512
2--
ELAVL3p.A18Gfs*18
Frame_Shift_Ins
INS
0.107
2--
ELF3-
-
-
-
3Gain-
ELFN2p.A714V
Missense
SNP
0.489
2--
ELK1p.P173Lfs*49
Frame_Shift_Del
DEL
0.434
NDND-
ELK3p.V176Wfs*7
Frame_Shift_Del
DEL
0.436
2--
ELK4-
-
-
-
3Gain-
ELMO3p.L83Wfs*5
Frame_Shift_Del
DEL
0.433
2--
ELMSAN1p.Q36Sfs*6
Frame_Shift_Del
DEL
0.479
2--
ELOC-
-
-
-
3Gain-
EMC2-
-
-
-
3Gain-
EMILIN1p.E182D
p.F889L
Missense
Missense
SNP
SNP
0.493
0.525
2--
EN1p.R12H
Missense
SNP
0.457
2--
ENAH-
-
-
-
3Gain-
ENDOD1p.L9P
Missense
SNP
0.513
2--
ENGp.P624Hfs*16
Frame_Shift_Del
DEL
0.498
2--
ENO2p.V367Sfs*3
Frame_Shift_Del
DEL
0.512
2--
ENO4p.K207Rfs*32
Frame_Shift_Del
DEL
0.598
2--
ENPEPp.R143W
Missense
SNP
0.514
2--
ENPP2-
-
-
-
3Gain-
ENSA-
-
-
-
3Gain-
ENY2-
-
-
-
3Gain-
EP400p.P2523S
Missense
SNP
0.470
2--
EPB41p.Q568R
Missense
SNP
0.555
2--
EPHA10p.P252Hfs*97
Frame_Shift_Del
DEL
0.485
2--
EPHA6p.S951I
Missense
SNP
0.538
2--
EPHX1-
-
-
-
3Gain-
EPM2AIP1p.R96Sfs*21
Frame_Shift_Del
DEL
0.427
2--
EPN1p.S533F
Missense
SNP
0.364
2--
EPPK1p.V11A
Missense
SNP
0.333
3Gain-
EPRS-
-
-
-
3Gain-
ERBB4p.M1?
Frame_Shift_Del
DEL
0.088
2--
ERFp.G299Efs*12
Frame_Shift_Del
DEL
0.481
2--
ERICH1p.X57_splice
Splice_Site
SNP
0.497
2--
ERICH3p.R249G
Missense
SNP
0.522
2--
ERICH5-
-
-
-
3Gain-
ERO1B-
-
-
-
3Gain-
ESPNLp.S367Qfs*14
Frame_Shift_Ins
INS
0.316
2--
ESR1p.G90S
Missense
SNP
0.497
2--
ESRP1-
-
-
-
3Gain-
ESRRG-
-
-
-
3Gain-
ETNK2-
-
-
-
3Gain-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
EXO1-
-
-
-
3Gain-
EXOC8-
-
-
-
3Gain-
EXOSC4-
-
-
-
3Gain-
EXOSC6p.E87D
Missense
SNP
0.532
2--
EXT1-
-
-
-
3Gain-
EYA1-
-
-
-
3Gain-
F11R-
-
-
-
3Gain-
F13A1p.A413T
Missense
SNP
1.000
2--
F13Bp.K54N
Missense
SNP
0.281
3Gain-
F5-
-
-
-
3Gain-
F9p.P197Sfs*2
Frame_Shift_Ins
INS
0.336
NDND-
FABP12-
-
-
-
3Gain-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP9-
-
-
-
3Gain-
FAHD2Ap.P281Qfs*26
Frame_Shift_Del
DEL
0.435
2--
FAM104Bp.V71A
Missense
SNP
0.423
NDND-
FAM110B-
-
-
-
3Gain-
FAM126Bp.P520Qfs*7
Frame_Shift_Del
DEL
0.604
2--
FAM129A-
-
-
-
3Gain-
FAM129Cp.P61H
Missense
SNP
0.521
2--
FAM134Cp.R241Tfs*18
Frame_Shift_Del
DEL
0.558
NDND-
FAM135B-
-
-
-
3Gain-
FAM150Ap.R30Gfs*43
Frame_Shift_Del
DEL
0.344
NDND-
FAM151Bp.P8L
Missense
SNP
0.422
2--
FAM163A-
-
-
-
3Gain-
FAM177B-
-
-
-
3Gain-
FAM184Bp.T1029I
Missense
SNP
0.490
2--
FAM186Bp.R519W
Missense
SNP
0.489
2--
FAM189B-
-
-
-
3Gain-
FAM205Ap.R224K
Missense
SNP
0.377
2--
FAM20Ap.E142D
Missense
SNP
0.412
2--
FAM20B-
-
-
-
3Gain-
FAM214Ap.P865S
Missense
SNP
0.447
2--
FAM21Cp.R1010C
Missense
SNP
0.467
NDND-
FAM26Ep.F246Lfs*75
Frame_Shift_Del
DEL
0.448
NDND-
FAM47Ap.I428M
Missense
SNP
0.441
NDND-
FAM47Cp.P404L
Missense
SNP
0.482
NDND-
FAM49B-
-
-
-
3Gain-
FAM57Bp.G124D
p.A112S
Missense
Missense
SNP
SNP
0.517
0.534
2--
FAM58Ap.R44W
Missense
SNP
0.486
NDND-
FAM71A-
-
-
-
3Gain-
FAM71E1p.P14Lfs*17
Frame_Shift_Del
DEL
0.485
2--
FAM72A-
-
-
-
3Gain-
FAM72C-
-
-
-
3Gain-
FAM72D-
-
-
-
3Gain-
FAM78B-
-
-
-
3Gain-
FAM83Ap.Q358Tfs*22
Frame_Shift_Ins
INS
0.208
3Gain-
FAM83H-
-
-
-
3Gain-
FAM84B-
-
-
-
3Gain-
FAM89A-
-
-
-
3Gain-
FAM90A1p.P129L
Missense
SNP
0.514
2--
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
3Gain-
FARP1p.P905Lfs*20
Frame_Shift_Del
DEL
0.381
2--
FASLG-
-
-
-
3Gain-
FBLp.K318Rfs*2
Frame_Shift_Del
DEL
0.480
2--
FBN2p.R39Pfs*17
Frame_Shift_Ins
INS
0.286
2--
FBXL6-
-
-
-
3Gain-
FBXO28-
-
-
-
3Gain-
FBXO32-
-
-
-
3Gain-
FBXO34p.I120Lfs*13
p.L485Cfs*13
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.384
0.467
2--
FBXO38p.N247D
Missense
SNP
0.540
2--
FBXO43-
-
-
-
3Gain-
FBXO5p.D340Mfs*30
Frame_Shift_Del
DEL
0.328
2--
FBXW9p.R238C
Missense
SNP
0.486
2--
FCAMR-
-
-
-
3Gain-
FCER1Ap.L128Pfs*20
Frame_Shift_Ins
INS
0.215
3Gain-
FCER1G-
-
-
-
3Gain-
FCGR1A-
-
-
-
3Gain-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCMR-
-
-
-
3Gain-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDCSPp.R66C
Missense
SNP
0.413
2--
FDPS-
-
-
-
3Gain-
FERp.R417M
Missense
SNP
0.457
2--
FER1L6-
-
-
-
3Gain-
FEZF2p.A118Pfs*129
p.P22Rfs*32
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.359
0.455
2--
FGD1p.P245L
Missense
SNP
0.526
NDND-
FGD6-
-
-
-
1Loss-
FGF3p.T140M
Missense
SNP
0.494
2--
FGF8p.A104T
Missense
SNP
0.475
2--
FH-
-
-
-
3Gain-
FHAD1p.I953*
Frame_Shift_Del
DEL
0.426
2--
FHDC1p.A886Qfs*9
Frame_Shift_Del
DEL
0.528
2--
FHL1p.P293H
Missense
SNP
0.540
NDND-
FJX1p.R199H
Missense
SNP
0.468
2--
FKBP10p.P345Rfs*20
Frame_Shift_Del
DEL
0.429
2--
FLAD1-
-
-
-
3Gain-
FLG-
-
-
-
3Gain-
FLG2p.G928C
Missense
SNP
0.623
3Gain-
FLNCp.G1359D
Missense
SNP
0.382
2--
FLVCR1-
-
-
-
3Gain-
FMN2-
-
-
-
3Gain-
FMNL2p.R767W
Missense
SNP
0.531
2--
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4p.K64N
Missense
SNP
0.616
3Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FOXD4L3p.H225Y
Missense
SNP
0.453
NDND-
FOXD4L5p.R316C
Missense
SNP
0.219
2--
FOXH1-
-
-
-
3Gain-
FOXI2p.G38Afs*6
Frame_Shift_Del
DEL
0.452
2--
FREM2p.A291T
p.A1725S
Missense
Missense
SNP
SNP
0.455
0.565
2--
FREM3p.R2027H
Missense
SNP
0.591
2--
FRMD4Ap.P1005Qfs*8
Frame_Shift_Del
DEL
0.407
2--
FRRS1Lp.R125H
Missense
SNP
0.494
2--
FSBP-
-
-
-
3Gain-
FSCN3p.L333Wfs*34
Frame_Shift_Del
DEL
0.276
2--
FSD1p.D196V
Missense
SNP
0.508
2--
FSIP2p.G50Afs*23
Frame_Shift_Del
DEL
0.380
2--
FXR2-
-
-
-
1Loss-
FYB1-
-
-
-
1Loss-
FZD6-
-
-
-
3Gain-
FZD7p.A133V
Missense
SNP
0.543
2--
G0S2-
-
-
-
3Gain-
GABPB2-
-
-
-
3Gain-
GAL3ST3p.A221D
Missense
SNP
0.997
2--
GALNT1p.A93V
Missense
SNP
0.455
2--
GALNT2-
-
-
-
3Gain-
GARNL3p.P829L
Missense
SNP
0.398
2--
GATA1p.R243W
Missense
SNP
0.475
NDND-
GATA3p.P394L
Missense
SNP
0.352
2--
GATAD2Bp.A321V
Missense
SNP
0.651
3Gain-
GBA-
-
-
-
3Gain-
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GDAP1-
-
-
-
3Gain-
GDF6-
-
-
-
3Gain-
GDI1p.T248Hfs*4
Frame_Shift_Del
DEL
0.589
NDND-
GEM-
-
-
-
3Gain-
GEMIN7p.G75D
Missense
SNP
0.470
2--
GGA1p.P632Hfs*59
Frame_Shift_Del
DEL
0.525
2--
GGH-
-
-
-
3Gain-
GGPS1-
-
-
-
3Gain-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJC2-
-
-
-
3Gain-
GLI1p.P536Qfs*77
Frame_Shift_Del
DEL
0.107
2--
GLI4-
-
-
-
3Gain-
GLMP-
-
-
-
3Gain-
GLRX2-
-
-
-
3Gain-
GLUL-
-
-
-
3Gain-
GML-
-
-
-
3Gain-
GNG4-
-
-
-
3Gain-
GNPAT-
-
-
-
3Gain-
GOLGA8Mp.K16Sfs*2
Frame_Shift_Del
DEL
0.424
2--
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GON4Lp.K1020R
Missense
SNP
0.637
3Gain-
GORAB-
-
-
-
3Gain-
GPA33-
-
-
-
3Gain-
GPAA1-
-
-
-
3Gain-
GPATCH2-
-
-
-
3Gain-
GPATCH4-
-
-
-
3Gain-
GPD2p.G329R
Missense
SNP
0.500
2--
GPIHBP1-
-
-
-
3Gain-
GPR137B-
-
-
-
3Gain-
GPR149p.A283T
Missense
SNP
0.519
2--
GPR161-
-
-
-
3Gain-
GPR20-
-
-
-
3Gain-
GPR25-
-
-
-
3Gain-
GPR37L1-
-
-
-
3Gain-
GPR52-
-
-
-
3Gain-
GPR88p.G283S
Missense
SNP
0.444
2--
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRASP1p.E1164G
Missense
SNP
0.507
NDND-
GPRC6Ap.A572V
Missense
SNP
0.386
2--
GPRIN2p.G30C
Missense
SNP
0.239
2--
GPT-
-
-
-
3Gain-
GRAMD1Ap.R578Q
Missense
SNP
0.174
2--
GREM2-
-
-
-
3Gain-
GRHL2-
-
-
-
3Gain-
GRIA1p.D305N
p.Y419C
Missense
Missense
SNP
SNP
0.362
0.621
2--
GRID1p.V280M
Missense
SNP
0.525
2--
GRIFINp.Q22H
Missense
SNP
0.468
2--
GRIK2p.N849Tfs*14
Frame_Shift_Del
DEL
0.536
2--
GRIN2Ap.T1108P
Missense
SNP
0.495
2--
GRIN2Cp.P882T
Missense
SNP
0.448
2--
GRIN2Dp.D1052G
Missense
SNP
0.318
2--
GRINA-
-
-
-
3Gain-
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
3Gain-
GSE1p.V284A
Missense
SNP
0.503
2--
GTSF1Lp.P122Lfs*50
Frame_Shift_Del
DEL
0.441
2--
GUK1-
-
-
-
3Gain-
GUSBp.R327H
Missense
SNP
0.488
2--
GYS2p.X102_splice
Splice_Site
SNP
0.458
2--
GZMAp.I29N
Missense
SNP
0.302
2--
H3F3A-
-
-
-
3Gain-
HAPLN2-
-
-
-
3Gain-
HARBI1p.D225G
Missense
SNP
0.453
2--
HAS1p.A225V
Missense
SNP
0.514
2--
HAS2-
-
-
-
3Gain-
HAUS6p.K189Nfs*16
Frame_Shift_Del
DEL
0.469
2--
HAX1-
-
-
-
3Gain-
HCFC1p.G1868R
p.A1091T
Missense
Missense
SNP
SNP
0.527
0.511
NDND-
HCN1p.R405Q
Missense
SNP
0.425
2--
HCN3-
-
-
-
3Gain-
HDAC5p.C1061G
p.A950V
Missense
Missense
SNP
SNP
0.464
0.455
2--
HDGF-
-
-
-
3Gain-
HDXp.N337T
Missense
SNP
0.485
NDND-
HEATR1p.T703M
Missense
SNP
0.380
3Gain-
HECTD4p.A3240Rfs*26
Frame_Shift_Del
DEL
0.460
2--
HELZ2p.S6Pfs*29
Frame_Shift_Del
DEL
0.388
2--
HERC2p.R4587*
p.A3424T
p.E2145V
Nonsense
Missense
Missense
SNP
SNP
SNP
0.417
0.437
0.441
2--
HERC6p.A775V
Missense
SNP
0.466
2--
HEXDCp.A532Lfs*41
Frame_Shift_Del
DEL
0.498
2--
HEY1-
-
-
-
3Gain-
HGFACp.G533D
Missense
SNP
0.483
2--
HGH1-
-
-
-
3Gain-
HHAT-
-
-
-
3Gain-
HHIPL2-
-
-
-
3Gain-
HHLA1-
-
-
-
3Gain-
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
3Gain-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3-
-
-
-
3Gain-
HIVEP2p.R1082W
Missense
SNP
0.452
2--
HJV-
-
-
-
3Gain-
HLA-Ap.A24Rfs*75
Frame_Shift_Ins
INS
0.315
2--
HLA-Bp.A15Gfs*5
Frame_Shift_Del
DEL
1.000
2--
HLX-
-
-
-
3Gain-
HMCN1-
-
-
-
3Gain-
HMCN2p.E2769Q
p.Y4965H
Missense
Missense
SNP
SNP
0.478
0.478
2--
HNF4G-
-
-
-
3Gain-
HNRNPU-
-
-
-
3Gain-
HORMAD1-
-
-
-
3Gain-
HOXC6p.E199Nfs*70
Frame_Shift_Del
DEL
0.492
2--
HOXD1p.R123Q
Missense
SNP
0.420
2--
HPXp.S278N
Missense
SNP
0.432
2--
HRNRp.S763T
Missense
SNP
0.339
3Gain-
HSD11B1-
-
-
-
3Gain-
HSD17B7-
-
-
-
3Gain-
HSF1-
-
-
-
3Gain-
HSPA12Bp.A308V
Missense
SNP
0.450
2--
HSPA6-
-
-
-
3Gain-
HSPD1p.V193Sfs*17
Frame_Shift_Ins
INS
0.311
2--
HTTp.N699Mfs*9
Frame_Shift_Del
DEL
0.067
2--
HYAL1p.T392M
Missense
SNP
0.493
2--
HYPMp.R79C
Missense
SNP
0.111
NDND-
IARS2-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
ICAM5p.G308Afs*10
Frame_Shift_Del
DEL
0.464
2--
ICE1p.T911A
Missense
SNP
0.505
2--
IER5-
-
-
-
3Gain-
IFI16p.E85Kfs*3
Frame_Shift_Del
DEL
0.388
3Gain-
IFT74p.X86_splice
Splice_Site
DEL
0.543
2--
IGFN1-
-
-
-
3Gain-
IGSF10p.R728Q
Missense
SNP
0.488
2--
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IGSF9Bp.R873H
Missense
SNP
0.498
2--
IKBKE-
-
-
-
3Gain-
IKZF5p.K5Nfs*8
Frame_Shift_Del
DEL
0.600
2--
IL10-
-
-
-
3Gain-
IL12RB1-
-
-
-
1Loss-
IL19-
-
-
-
3Gain-
IL20-
-
-
-
3Gain-
IL23Rp.R381Q
Missense
SNP
0.571
2--
IL24-
-
-
-
3Gain-
IL6R-
-
-
-
3Gain-
IL6STp.V530*
Frame_Shift_Del
DEL
0.420
2--
IL7-
-
-
-
3Gain-
ILDR2-
-
-
-
3Gain-
ILF2p.G106E
Missense
SNP
0.207
3Gain-
IMPA1-
-
-
-
3Gain-
IMPAD1-
-
-
-
3Gain-
IMPDH1p.G405R
Missense
SNP
0.480
2--
IMPDH2p.V270A
Missense
SNP
0.500
2--
INAVA-
-
-
-
3Gain-
INCA1p.P26Qfs*41
Frame_Shift_Del
DEL
0.461
2--
INHBBp.C252R
Missense
SNP
0.505
2--
INPP4Ap.R793*
Nonsense
SNP
0.485
2--
INPP5Bp.L858Cfs*5
Frame_Shift_Del
DEL
0.615
2--
INPPL1p.P976Hfs*155
Frame_Shift_Del
DEL
0.481
2--
INSRR-
-
-
-
3Gain-
INTS1p.S1486N
Missense
SNP
0.509
2--
INTS12p.L14*
Frame_Shift_Del
DEL
0.422
2--
INTS3-
-
-
-
3Gain-
INTS7-
-
-
-
3Gain-
INTS8-
-
-
-
3Gain-
IP6K1p.R282H
Missense
SNP
0.593
2--
IPO9-
-
-
-
3Gain-
IQANK1-
-
-
-
3Gain-
IQGAP3-
-
-
-
3Gain-
IRF2BP2-
-
-
-
3Gain-
IRF6-
-
-
-
3Gain-
IRS2p.F1152del
In_Frame_Del
DEL
0.493
2--
IRX1p.D245G
Missense
SNP
0.457
2--
IRX2p.A427V
Missense
SNP
0.582
2--
ISG20L2-
-
-
-
3Gain-
ITGA10-
-
-
-
3Gain-
ITGA11p.A839E
Missense
SNP
0.547
2--
ITGB1BP1p.R3C
Missense
SNP
0.387
2--
ITGBL1p.E439V
Missense
SNP
0.456
2--
ITIH5p.G10E
Missense
SNP
0.540
2--
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITPKAp.R357H
Missense
SNP
0.429
2--
ITPKB-
-
-
-
3Gain-
ITPR1p.A1187T
Missense
SNP
0.447
2--
ITSN1p.L158Pfs*3
Frame_Shift_Ins
INS
0.266
2--
IVL-
-
-
-
3Gain-
IVNS1ABP-
-
-
-
3Gain-
JAMLp.H250Y
Missense
SNP
0.524
2--
JMJD4-
-
-
-
3Gain-
JPH1-
-
-
-
3Gain-
JRK-
-
-
-
3Gain-
JSRP1p.P169Rfs*60
Frame_Shift_Del
DEL
0.425
2--
JTB-
-
-
-
3Gain-
JUPp.T409I
Missense
SNP
0.477
2--
KBTBD11p.R342W
Missense
SNP
0.472
2--
KCNB1p.R736Pfs*4
p.D74N
Frame_Shift_Ins
Missense
INS
SNP
0.328
0.505
2--
KCNB2-
-
-
-
3Gain-
KCND2p.P208S
Missense
SNP
0.391
2--
KCND3p.V94M
Missense
SNP
0.535
2--
KCNE2p.Y84Lfs*29
Frame_Shift_Ins
INS
0.294
2--
KCNF1p.L187F
Missense
SNP
0.432
2--
KCNG3p.V134M
Missense
SNP
0.538
2--
KCNH1-
-
-
-
3Gain-
KCNJ10-
-
-
-
3Gain-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK2-
-
-
-
3Gain-
KCNK9-
-
-
-
3Gain-
KCNMB4p.L20F
Missense
SNP
0.451
2--
KCNN2p.N421Mfs*12
Frame_Shift_Del
DEL
0.510
2--
KCNN3-
-
-
-
3Gain-
KCNQ3-
-
-
-
3Gain-
KCNS2-
-
-
-
3Gain-
KCNT2-
-
-
-
3Gain-
KCNV1-
-
-
-
3Gain-
KCTD3-
-
-
-
3Gain-
KDELC1p.G258D
Missense
SNP
0.594
2--
KDM5B-
-
-
-
3Gain-
KDM6Ap.A694Lfs*21
Frame_Shift_Del
DEL
0.433
NDND-
KDRp.A690T
Missense
SNP
0.441
2--
KHDC4-
-
-
-
3Gain-
KHDRBS3-
-
-
-
3Gain-
KIAA0040-
-
-
-
3Gain-
KIAA0355p.P332L
Missense
SNP
0.442
2--
KIAA0368p.R772H
Missense
SNP
0.477
NDND-
KIAA0556p.I1431Sfs*15
Frame_Shift_Del
DEL
0.587
2--
KIAA0586p.Y695C
p.N1216S
Missense
Missense
SNP
SNP
0.421
0.515
2--
KIAA1024p.S702Afs*11
Frame_Shift_Del
DEL
0.507
2--
KIAA1217p.T1232I
Missense
SNP
0.541
2--
KIAA1429p.F1796S
Missense
SNP
0.250
NDND-
KIAA1549Lp.R1099W
Missense
SNP
0.502
2--
KIAA1614-
-
-
-
3Gain-
KIF14p.Q1410*
Nonsense
SNP
0.351
3Gain-
KIF20Bp.F1495Lfs*10
Frame_Shift_Del
DEL
0.738
2--
KIF21B-
-
-
-
3Gain-
KIF26B-
-
-
-
3Gain-
KIF5Ap.P110A
Missense
SNP
0.542
2--
KIFAP3-
-
-
-
3Gain-
KIFC2-
-
-
-
3Gain-
KIFC3p.R665H
Missense
SNP
0.536
2--
KIRREL1-
-
-
-
3Gain-
KISS1-
-
-
-
3Gain-
KISS1Rp.F48L
Missense
SNP
0.497
2--
KLF10-
-
-
-
3Gain-
KLF14p.A179T
p.S96F
Missense
Missense
SNP
SNP
0.467
0.463
2--
KLHDC8A-
-
-
-
3Gain-
KLHDC9-
-
-
-
3Gain-
KLHL12-
-
-
-
3Gain-
KLHL14p.A80Pfs*37
Frame_Shift_Del
DEL
0.476
2--
KLHL20-
-
-
-
3Gain-
KLHL22p.P289L
Missense
SNP
0.433
2--
KLHL38-
-
-
-
3Gain-
KLLNp.W37L
Missense
SNP
0.460
2--
KMO-
-
-
-
3Gain-
KMT2Bp.P2214Qfs*2
Frame_Shift_Del
DEL
0.705
2--
KMT2Dp.Y2907Tfs*3
Frame_Shift_Del
DEL
0.466
2--
KNDC1p.R189Q
Missense
SNP
0.497
2--
KNOP1p.G320Afs*8
Frame_Shift_Del
DEL
0.449
2--
KPRP-
-
-
-
3Gain-
KRASp.Q61E
p.Q22K
Missense
Missense
SNP
SNP
0.432
0.422
2--
KRBA1p.P805Lfs*61
Frame_Shift_Del
DEL
0.373
2--
KRT1p.G573S
Missense
SNP
0.424
2--
KRT14p.L468I
Missense
SNP
0.498
2--
KRT2p.X267_splice
Splice_Site
DEL
0.397
2--
KRT26p.E112G
Missense
SNP
0.406
2--
KRTAP15-1p.L95I
Missense
SNP
0.493
2--
KRTAP4-7p.T143S
Missense
SNP
0.295
2--
KRTCAP2-
-
-
-
3Gain-
KSR2p.P551S
Missense
SNP
0.326
2--
LACTB2-
-
-
-
3Gain-
LAD1-
-
-
-
3Gain-
LAMA3p.D2166Mfs*42
Frame_Shift_Del
DEL
0.473
2--
LAMB1p.A59T
Missense
SNP
0.481
2--
LAMB3-
-
-
-
3Gain-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMTOR2-
-
-
-
3Gain-
LAPTM4B-
-
-
-
3Gain-
LATS2p.P344Rfs*89
Frame_Shift_Del
DEL
0.460
2--
LAX1-
-
-
-
3Gain-
LBR-
-
-
-
3Gain-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1D-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCTLp.A55T
Missense
SNP
0.519
2--
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LGALS8-
-
-
-
3Gain-
LGALS9p.G346Afs*5
Frame_Shift_Del
DEL
0.505
2--
LGR6-
-
-
-
3Gain-
LHX4p.P378T
Missense
SNP
0.344
3Gain-
LHX5p.A325V
Missense
SNP
0.495
2--
LHX9-
-
-
-
3Gain-
LILRA4p.W496*
Nonsense
SNP
0.427
2--
LIMA1p.N470Kfs*2
Frame_Shift_Ins
INS
0.294
2--
LIN9-
-
-
-
3Gain-
LINGO4-
-
-
-
3Gain-
LIX1L-
-
-
-
3Gain-
LKAAEAR1p.R61H
Missense
SNP
0.432
2--
LMNA-
-
-
-
3Gain-
LMOD1-
-
-
-
3Gain-
LMX1A-
-
-
-
3Gain-
LORp.G124D
Missense
SNP
0.651
3Gain-
LOXHD1p.D2200Mfs*22
p.E1003V
Frame_Shift_Del
Missense
DEL
SNP
0.433
0.471
2--
LOXL1p.A216G
Missense
SNP
0.430
2--
LPAR2p.R62C
Missense
SNP
0.458
2--
LPAR4p.L22F
Missense
SNP
0.462
NDND-
LPGAT1-
-
-
-
3Gain-
LRIG1p.F658Sfs*5
Frame_Shift_Del
DEL
0.383
2--
LRP12-
-
-
-
3Gain-
LRP1Bp.K1497T
Missense
SNP
0.534
2--
LRP4p.Q1550H
Missense
SNP
0.522
2--
LRP6p.T1529P
Missense
SNP
0.500
2--
LRPPRCp.F1258Sfs*47
Frame_Shift_Del
DEL
0.457
2--
LRRC14-
-
-
-
3Gain-
LRRC16Ap.K1033del
In_Frame_Del
DEL
0.432
NDND-
LRRC24-
-
-
-
3Gain-
LRRC26p.L242*
Frame_Shift_Del
DEL
0.500
2--
LRRC43p.P480S
Missense
SNP
0.461
2--
LRRC52-
-
-
-
3Gain-
LRRC56p.P434Qfs*66
Frame_Shift_Del
DEL
0.483
2--
LRRC58p.Q349H
Missense
SNP
0.400
2--
LRRC6-
-
-
-
3Gain-
LRRC63p.D139E
Missense
SNP
0.491
2--
LRRC69-
-
-
-
3Gain-
LRRC71-
-
-
-
3Gain-
LRRCC1-
-
-
-
3Gain-
LRRIQ3p.Q375Tfs*21
Frame_Shift_Ins
INS
0.275
2--
LRRK2p.F164C
Missense
SNP
0.492
2--
LRRN2-
-
-
-
3Gain-
LRRN3p.L190P
Missense
SNP
0.419
2--
LRRTM3p.P397L
Missense
SNP
0.476
2--
LRSAM1p.K292T
Missense
SNP
0.507
2--
LSM14Bp.R60Efs*83
Frame_Shift_Del
DEL
0.521
2--
LTBP3p.C894Sfs*29
Frame_Shift_Ins
INS
0.329
2--
LUZP2p.I157Sfs*5
Frame_Shift_Del
DEL
0.522
2--
LY6D-
-
-
-
3Gain-
LY6E-
-
-
-
3Gain-
LY6Hp.C49Y
Missense
SNP
0.308
3Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
3Gain-
LY9-
-
-
-
3Gain-
LY96-
-
-
-
3Gain-
LYARp.K286Rfs*2
Frame_Shift_Del
DEL
0.667
2--
LYN-
-
-
-
3Gain-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD2-
-
-
-
3Gain-
LYPD8-
-
-
-
3Gain-
LYPLA1-
-
-
-
3Gain-
LYPLA2p.A166Pfs*28
Frame_Shift_Del
DEL
0.521
2--
LYPLAL1-
-
-
-
3Gain-
LYSMD1-
-
-
-
3Gain-
LYST-
-
-
-
3Gain-
LZICp.K190Nfs*16
Frame_Shift_Del
DEL
0.481
2--
MAEL-
-
-
-
3Gain-
MAF1-
-
-
-
3Gain-
MAFAp.G84Rfs*353
Frame_Shift_Ins
INS
0.162
3Gain-
MAGEA8p.G15D
Missense
SNP
0.450
NDND-
MAGEE1p.A20T
Missense
SNP
0.468
NDND-
MAGI1p.P1351L
Missense
SNP
0.466
2--
MAL2-
-
-
-
3Gain-
MAP10-
-
-
-
3Gain-
MAP1Ap.R879H
Missense
SNP
0.464
2--
MAP1Bp.V1048A
Missense
SNP
0.507
2--
MAP1LC3C-
-
-
-
3Gain-
MAP1Sp.P198Rfs*93
p.S595Vfs*62
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.088
0.306
2--
MAP3K12p.S569Hfs*45
Frame_Shift_Del
DEL
0.324
2--
MAP3K21-
-
-
-
3Gain-
MAP3K6p.G14S
Missense
SNP
0.466
2--
MAP4p.G1026*
Nonsense
SNP
0.418
2--
MAP7D2p.Q344*
Nonsense
SNP
0.489
NDND-
MAPK15-
-
-
-
3Gain-
MAPK4p.R380C
Missense
SNP
0.520
2--
MAPKAPK2-
-
-
-
3Gain-
MARC1p.A166T
Missense
SNP
0.710
3Gain-
MARC2p.I322Lfs*4
p.S85N
Frame_Shift_Del
Missense
DEL
SNP
0.301
0.641
3Gain-
MARCH6p.A195S
Missense
SNP
0.301
2--
MARK1-
-
-
-
3Gain-
MARVELD1p.R14S
Missense
SNP
0.430
2--
MATN2-
-
-
-
3Gain-
MAZp.A478Pfs*47
Frame_Shift_Del
DEL
0.445
2--
MCL1-
-
-
-
3Gain-
MCMDC2-
-
-
-
3Gain-
MCOLN1p.R340W
Missense
SNP
0.409
2--
MCTP1p.K875Rfs*4
Frame_Shift_Del
DEL
0.571
2--
MDM4-
-
-
-
3Gain-
MED15p.G114D
Missense
SNP
0.571
2--
MED30-
-
-
-
3Gain-
MEDAGp.G69Afs*29
Frame_Shift_Del
DEL
0.912
2--
MEF2D-
-
-
-
3Gain-
MEGF6p.R500W
Missense
SNP
0.075
2--
MESDC2p.K211Rfs*6
Frame_Shift_Del
DEL
0.362
NDND-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL18-
-
-
-
3Gain-
METTL21Bp.D73N
Missense
SNP
0.534
NDND-
MEX3A-
-
-
-
3Gain-
MEX3Bp.T182R
Missense
SNP
0.500
2--
MFRPp.H384Tfs*94
Frame_Shift_Del
DEL
0.498
2--
MFSD2Bp.A272D
Missense
SNP
0.512
2--
MFSD3-
-
-
-
3Gain-
MFSD4A-
-
-
-
3Gain-
MGST3-
-
-
-
3Gain-
MIA3-
-
-
-
3Gain-
MIB2p.V1070M
Missense
SNP
0.441
2--
MICAL1p.D299N
Missense
SNP
0.513
2--
MINDY1-
-
-
-
3Gain-
MIXL1-
-
-
-
3Gain-
MKI67p.N1872S
Missense
SNP
0.424
2--
MLH3p.R426K
Missense
MNP
0.467
2--
MLLT11-
-
-
-
3Gain-
MMD2p.R5Gfs*14
Frame_Shift_Del
DEL
0.500
2--
MMP16-
-
-
-
3Gain-
MMP21p.P134Rfs*43
Frame_Shift_Del
DEL
0.393
2--
MN1p.R614C
Missense
SNP
0.568
2--
MNDA-
-
-
-
3Gain-
MNX1p.S354I
Missense
SNP
0.517
2--
MON1Ap.R509C
Missense
SNP
0.493
2--
MORC3p.K468Rfs*14
Frame_Shift_Del
DEL
0.585
2--
MOS-
-
-
-
3Gain-
MPC2-
-
-
-
3Gain-
MPDU1-
-
-
-
1Loss-
MPOp.R174H
Missense
SNP
0.504
2--
MPP4p.G439V
Missense
SNP
0.456
2--
MPRIPp.P353Qfs*30
Frame_Shift_Del
DEL
0.576
2--
MPZp.R192M
Missense
SNP
0.739
3Gain-
MPZL1-
-
-
-
3Gain-
MR1-
-
-
-
3Gain-
MRC2p.A797T
Missense
SNP
0.427
2--
MROH1-
-
-
-
3Gain-
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
3Gain-
MROH9-
-
-
-
3Gain-
MRPL13-
-
-
-
3Gain-
MRPL15-
-
-
-
3Gain-
MRPL22p.A108Pfs*3
Frame_Shift_Del
DEL
0.516
2--
MRPL24-
-
-
-
3Gain-
MRPL55-
-
-
-
3Gain-
MRPL9-
-
-
-
3Gain-
MRPS14-
-
-
-
3Gain-
MRPS21-
-
-
-
3Gain-
MRPS28-
-
-
-
3Gain-
MRVI1p.P714H
Missense
SNP
0.511
2--
MSC-
-
-
-
3Gain-
MSH6p.F1088Lfs*5
Frame_Shift_Ins
INS
0.273
2--
MSTO1-
-
-
-
3Gain-
MT1HL1-
-
-
-
3Gain-
MTBPp.E12Kfs*39
Frame_Shift_Del
DEL
0.286
3Gain-
MTDH-
-
-
-
3Gain-
MTERF3-
-
-
-
3Gain-
MTFR1-
-
-
-
3Gain-
MTFR2p.V17I
Missense
SNP
0.391
2--
MTMR1p.G34Afs*29
Frame_Shift_Del
DEL
0.259
NDND-
MTMR11-
-
-
-
3Gain-
MTMR14p.R204Q
Missense
SNP
0.444
2--
MTNR1Ap.V311I
Missense
SNP
0.463
2--
MTR-
-
-
-
3Gain-
MTSS1-
-
-
-
3Gain-
MTX1-
-
-
-
3Gain-
MUC1-
-
-
-
3Gain-
MUC12-
-
-
-
3Gain-
MUC16p.P3580T
Missense
SNP
0.511
2--
MUC17p.V1480I
Missense
SNP
0.445
3Gain-
MXRA8p.R301Gfs*107
Frame_Shift_Del
DEL
0.472
2--
MYBL1-
-
-
-
3Gain-
MYBPH-
-
-
-
3Gain-
MYC-
-
-
-
3Gain-
MYCBP2p.S3084Y
Missense
SNP
0.410
2--
MYEOVp.W272Gfs*66
Frame_Shift_Del
DEL
0.463
2--
MYF6p.K83T
p.T84A
Missense
Missense
SNP
SNP
0.544
0.531
2--
MYH7p.A1804T
Missense
SNP
0.514
2--
MYO15Ap.K1048Rfs*10
Frame_Shift_Del
DEL
0.394
2--
MYO3Ap.M1192*
Frame_Shift_Del
DEL
0.200
2--
MYO9Ap.Y1422Ifs*8
p.D529Y
Frame_Shift_Del
Missense
DEL
SNP
0.946
0.506
2--
MYO9Bp.L1111*
Frame_Shift_Del
DEL
0.068
2--
MYOC-
-
-
-
3Gain-
MYOCOS-
-
-
-
3Gain-
MYOG-
-
-
-
3Gain-
N4BP2p.L1092R
Missense
SNP
0.479
2--
NAA11p.E208D
Missense
SNP
0.531
2--
NANOS1p.R13L
Missense
SNP
0.535
2--
NAP1L3p.N95H
Missense
SNP
0.488
NDND-
NAPRT-
-
-
-
3Gain-
NAV1-
-
-
-
3Gain-
NAV2p.C220Y
Missense
SNP
0.490
2--
NAXE-
-
-
-
3Gain-
NBNp.R466Gfs*18
Frame_Shift_Del
DEL
0.193
3Gain-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15p.Y385H
Missense
SNP
0.333
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF9-
-
-
-
3Gain-
NCALD-
-
-
-
3Gain-
NCAPG2p.C1069Lfs*33
Frame_Shift_Del
DEL
0.559
2--
NCF2-
-
-
-
3Gain-
NCK2p.T202M
Missense
SNP
0.467
2--
NCOA2-
-
-
-
3Gain-
NCOA3p.S1337L
Missense
SNP
0.554
2--
NCSTN-
-
-
-
3Gain-
NDNp.D66N
Missense
SNP
0.448
2--
NDRG1-
-
-
-
3Gain-
NDUFA12-
-
-
-
1Loss-
NDUFAF6-
-
-
-
3Gain-
NDUFB9-
-
-
-
3Gain-
NDUFS2-
-
-
-
3Gain-
NECAB1p.S25P
Missense
SNP
0.364
3Gain-
NECTIN4-
-
-
-
3Gain-
NEDD4Lp.F242Lfs*32
p.N156Mfs*51
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.453
0.481
2--
NEDD9p.A316T
Missense
SNP
0.457
2--
NEK1p.V665Cfs*34
Frame_Shift_Del
DEL
0.522
2--
NEK2-
-
-
-
3Gain-
NEK7-
-
-
-
3Gain-
NELFCDp.K381N
Missense
SNP
0.471
2--
NENF-
-
-
-
3Gain-
NES-
-
-
-
3Gain-
NEU1p.K46N
Missense
SNP
0.536
2--
NEU4p.S266G
Missense
SNP
0.483
2--
NEURL3p.D100N
Missense
SNP
0.512
2--
NFASCp.R56Vfs*5
Frame_Shift_Del
DEL
0.634
3Gain-
NFATC4p.A228Gfs*23
Frame_Shift_Ins
INS
0.264
2--
NFKBIDp.D273N
Missense
SNP
0.450
2--
NFYCp.R133C
Missense
SNP
0.489
2--
NHLH1-
-
-
-
3Gain-
NID1-
-
-
-
3Gain-
NIPAL2-
-
-
-
3Gain-
NIT1-
-
-
-
3Gain-
NKAIN3-
-
-
-
3Gain-
NKAIN4p.Q153*
Nonsense
SNP
0.494
2--
NKX2-2p.D14N
Missense
SNP
0.445
2--
NLKp.F192Lfs*30
Frame_Shift_Del
DEL
0.404
2--
NLRC5p.F487Lfs*8
Frame_Shift_Del
DEL
0.445
2--
NLRP12p.R754C
Missense
SNP
0.460
2--
NLRP3p.A67V
Missense
SNP
0.342
3Gain-
NLRP9p.K264Rfs*12
p.S7Rfs*9
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.467
0.467
2--
NME7-
-
-
-
3Gain-
NMNAT2-
-
-
-
3Gain-
NOS1AP-
-
-
-
3Gain-
NOTCH2NLA-
-
-
-
3Gain-
NOV-
-
-
-
3Gain-
NOVA1p.P34Lfs*19
Frame_Shift_Del
DEL
0.381
2--
NPAS4p.F704V
Missense
SNP
0.566
2--
NPATp.S548Vfs*11
Frame_Shift_Del
DEL
0.225
2--
NPBWR1-
-
-
-
3Gain-
NPHS2-
-
-
-
3Gain-
NPL-
-
-
-
3Gain-
NPR1-
-
-
-
3Gain-
NPR2p.D1022Mfs*4
Frame_Shift_Del
DEL
0.375
2--
NPTX2p.V123I
Missense
SNP
0.394
2--
NPY1Rp.A191E
Missense
SNP
0.507
2--
NR1D1p.G426E
Missense
SNP
0.514
2--
NR1I3-
-
-
-
3Gain-
NR2C1-
-
-
-
1Loss-
NR5A2-
-
-
-
3Gain-
NRBP2-
-
-
-
3Gain-
NSL1-
-
-
-
3Gain-
NSMAF-
-
-
-
3Gain-
NSMCE2-
-
-
-
3Gain-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NTRK3p.K367N
Missense
SNP
0.538
2--
NUAK2-
-
-
-
3Gain-
NUCKS1-
-
-
-
3Gain-
NUDCD1-
-
-
-
3Gain-
NUDT17-
-
-
-
3Gain-
NUDT4B-
-
-
-
3Gain-
NUF2p.*465Sext*9
Nonstop
SNP
0.508
3Gain-
NUP133-
-
-
-
3Gain-
NUP153p.P665T
Missense
SNP
0.558
2--
NUP205p.P1379S
Missense
SNP
0.641
2--
NUP210L-
-
-
-
3Gain-
NUTM1p.P588T
Missense
SNP
0.467
2--
NVL-
-
-
-
3Gain-
NYAP1p.P182Qfs*21
p.P821H
Frame_Shift_Del
Missense
DEL
SNP
0.425
0.441
2--
OAZ3-
-
-
-
3Gain-
OBSCNp.A7950Pfs*79
p.R541H
p.S654N
Frame_Shift_Del
Missense
Missense
DEL
SNP
SNP
0.592
0.317
0.311
3Gain-
OBSL1p.E664G
Missense
SNP
0.448
2--
OC90-
-
-
-
3Gain-
OCLM-
-
-
-
3Gain-
ODF1-
-
-
-
3Gain-
ODR4-
-
-
-
3Gain-
OFD1p.Q703R
Missense
SNP
0.518
NDND-
OLFM1p.G31D
Missense
SNP
0.471
2--
OLFM3p.W357R
Missense
SNP
0.572
2--
OLFML2Ap.E336K
Missense
SNP
0.422
2--
OLFML2B-
-
-
-
3Gain-
OLIG1p.P184L
Missense
SNP
0.477
2--
OLIG2p.R56C
Missense
SNP
0.545
2--
OPLAH-
-
-
-
3Gain-
OPN3p.V62A
Missense
SNP
0.722
3Gain-
OPRK1-
-
-
-
3Gain-
OPTC-
-
-
-
3Gain-
OR10A6p.G202C
Missense
SNP
0.632
2--
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10R2-
-
-
-
3Gain-
OR10T2-
-
-
-
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11L1p.G41R
Missense
SNP
0.734
3Gain-
OR13G1-
-
-
-
3Gain-
OR14A16-
-
-
-
3Gain-
OR14C36-
-
-
-
3Gain-
OR1A2p.L249Yfs*14
Frame_Shift_Del
DEL
0.560
2--
OR1C1-
-
-
-
3Gain-
OR2A42p.M58Cfs*40
Frame_Shift_Del
DEL
0.276
2--
OR2AK2-
-
-
-
3Gain-
OR2B11-
-
-
-
3Gain-
OR2C3-
-
-
-
3Gain-
OR2G2-
-
-
-
3Gain-
OR2G3-
-
-
-
3Gain-
OR2G6p.R172H
Missense
SNP
0.343
3Gain-
OR2L13-
-
-
-
3Gain-
OR2L2-
-
-
-
3Gain-
OR2L3-
-
-
-
3Gain-
OR2L5-
-
-
-
3Gain-
OR2L8-
-
-
-
3Gain-
OR2M2-
-
-
-
3Gain-
OR2M3-
-
-
-
3Gain-
OR2M4-
-
-
-
3Gain-
OR2M5-
-
-
-
3Gain-
OR2M7p.R235H
Missense
SNP
0.386
3Gain-
OR2T1-
-
-
-
3Gain-
OR2T10-
-
-
-
3Gain-
OR2T11-
-
-
-
3Gain-
OR2T12-
-
-
-
3Gain-
OR2T2p.I69T
Missense
SNP
0.386
3Gain-
OR2T27-
-
-
-
3Gain-
OR2T29-
-
-
-
3Gain-
OR2T3-
-
-
-
3Gain-
OR2T33-
-
-
-
3Gain-
OR2T34-
-
-
-
3Gain-
OR2T35-
-
-
-
3Gain-
OR2T4-
-
-
-
3Gain-
OR2T5-
-
-
-
3Gain-
OR2T6-
-
-
-
3Gain-
OR2T8-
-
-
-
3Gain-
OR2W3-
-
-
-
3Gain-
OR52E4p.R264C
Missense
SNP
0.536
2--
OR5A1p.G210R
Missense
SNP
0.432
2--
OR5AR1p.G16C
Missense
SNP
0.453
2--
OR5D18p.M60Cfs*25
Frame_Shift_Del
DEL
0.554
2--
OR5H2p.G69E
Missense
SNP
0.440
2--
OR6C74p.A235Hfs*24
Frame_Shift_Del
DEL
0.482
2--
OR6F1-
-
-
-
3Gain-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1p.F32Lfs*6
Frame_Shift_Del
DEL
0.202
3Gain-
OR6Y1-
-
-
-
3Gain-
OR8D4p.R50*
Frame_Shift_Ins
INS
0.357
2--
ORC4p.G146Vfs*9
Frame_Shift_Del
DEL
0.360
2--
OSGIN2-
-
-
-
3Gain-
OSMR-
-
-
-
1Loss-
OSR2p.Y179Ifs*79
Frame_Shift_Del
DEL
0.302
3Gain-
OTUD6B-
-
-
-
3Gain-
OTUD7B-
-
-
-
3Gain-
OTX1p.T170A
Missense
SNP
0.463
2--
OXR1-
-
-
-
3Gain-
P2RX2p.N394del
In_Frame_Del
DEL
0.452
2--
P2RY14p.F246Lfs*31
Frame_Shift_Del
DEL
0.454
2--
P4HTMp.L416Cfs*6
Frame_Shift_Del
DEL
0.435
2--
PABPC1-
-
-
-
3Gain-
PAG1-
-
-
-
3Gain-
PALB2p.V858G
Missense
SNP
0.485
2--
PAPD7p.H529N
Missense
SNP
0.482
NDND-
PAPPA2-
-
-
-
3Gain-
PAQR6-
-
-
-
3Gain-
PAQR7p.A182T
Missense
SNP
0.481
2--
PARP1-
-
-
-
3Gain-
PARP10-
-
-
-
3Gain-
PARP16p.E127K
Missense
SNP
0.310
2--
PARP4p.P995L
Missense
SNP
0.419
2--
PATJp.N1270K
Missense
SNP
0.537
2--
PAX6p.W170L
Missense
SNP
0.495
2--
PBX1-
-
-
-
3Gain-
PBXIP1-
-
-
-
3Gain-
PCDH11Xp.V685A
Missense
SNP
0.465
NDND-
PCDH12p.L1065I
Missense
SNP
0.535
2--
PCDH17p.S557L
Missense
SNP
0.483
2--
PCDHA12p.D481G
Missense
SNP
0.523
2--
PCDHA9p.G572Afs*6
Frame_Shift_Del
DEL
0.421
2--
PCDHB10p.R289P
Missense
SNP
0.064
2--
PCDHB14p.Y417N
Missense
SNP
0.397
2--
PCDHB6p.R576Q
Missense
SNP
0.486
2--
PCDHB7p.G758R
Missense
SNP
0.483
2--
PCDHGA4p.D509Y
Missense
SNP
0.595
2--
PCDHGA8p.S336L
p.I348V
Missense
Missense
SNP
SNP
0.526
0.553
2--
PCDHGB6p.T415I
Missense
SNP
0.420
2--
PCDHGC3p.D485N
Missense
SNP
0.493
2--
PCMTD1-
-
-
-
3Gain-
PCMTD2p.P334Qfs*2
Frame_Shift_Del
DEL
0.486
2--
PCNX2-
-
-
-
3Gain-
PCNX3p.V204I
Missense
SNP
0.455
2--
PCNX4p.Y851Mfs*19
Frame_Shift_Del
DEL
0.500
2--
PCP4L1-
-
-
-
3Gain-
PDC-
-
-
-
3Gain-
PDE10Ap.L582P
Missense
SNP
0.509
2--
PDE1Bp.S523Ifs*6
Frame_Shift_Ins
INS
0.243
2--
PDE4Ap.G337W
Missense
SNP
0.446
2--
PDE4DIP-
-
-
-
3Gain-
PDE7A-
-
-
-
3Gain-
PDP1-
-
-
-
3Gain-
PDZD11p.P21H
Missense
SNP
0.571
NDND-
PDZD2p.D95Tfs*27
Frame_Shift_Del
DEL
0.415
2--
PDZD4p.V195D
Missense
SNP
0.492
NDND-
PDZD7p.D219N
Missense
SNP
0.517
2--
PDZK1-
-
-
-
3Gain-
PDZRN3p.Q980H
Missense
SNP
0.457
2--
PEA15-
-
-
-
3Gain-
PEAR1p.R956Gfs*30
Frame_Shift_Del
DEL
0.581
3Gain-
PELI3p.S343I
Missense
SNP
0.486
2--
PENK-
-
-
-
3Gain-
PEX11B-
-
-
-
3Gain-
PEX19-
-
-
-
3Gain-
PEX2-
-
-
-
3Gain-
PFDN2-
-
-
-
3Gain-
PFKFB2-
-
-
-
3Gain-
PGBD2-
-
-
-
3Gain-
PGBD5p.D17Tfs*12
Frame_Shift_Del
DEL
0.337
3Gain-
PGGT1B-
-
-
-
2-PGGT1B--CCDC112
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM5p.S100L
Missense
SNP
0.222
2--
PHACTR4p.S64Vfs*12
Frame_Shift_Del
DEL
0.338
2--
PHF20L1-
-
-
-
3Gain-
PHKBp.G644Efs*2
Frame_Shift_Del
DEL
0.490
2--
PHLDA1p.S396I
Missense
SNP
0.478
2--
PHLDA3-
-
-
-
3Gain-
PHLPP2p.R1302Q
Missense
SNP
0.508
2--
PHOX2Ap.A68T
Missense
SNP
0.478
2--
PI15-
-
-
-
3Gain-
PI4KB-
-
-
-
3Gain-
PIAS3-
-
-
-
3Gain-
PIDD1p.R674C
Missense
SNP
0.479
2--
PIF1p.R35H
Missense
SNP
0.518
2--
PIGC-
-
-
-
3Gain-
PIGM-
-
-
-
3Gain-
PIGQp.S591A
Missense
SNP
0.560
2--
PIGRp.C279*
p.G760D
p.R272*
Nonsense
Missense
Nonsense
DEL
SNP
SNP
0.315
0.595
0.661
3Gain-
PIK3C2Bp.R287Afs*92
Frame_Shift_Del
DEL
0.319
3Gain-
PIK3C2Gp.I1080F
Missense
SNP
0.479
2--
PIK3CAp.E545G
Missense
SNP
0.464
2--
PIKFYVEp.P1393Q
Missense
SNP
0.077
2--
PIP4P2-
-
-
-
3Gain-
PIP5K1A-
-
-
-
3Gain-
PIRTp.S129N
p.I56V
Missense
Missense
SNP
SNP
0.494
0.504
2--
PITPNM1p.R169Q
Missense
SNP
0.530
2--
PKD1L1p.T2182A
Missense
SNP
0.479
2--
PKHD1L1p.A1274V
Missense
SNP
0.310
3Gain-
PKIA-
-
-
-
3Gain-
PKLR-
-
-
-
3Gain-
PKP1-
-
-
-
3Gain-
PLA2G4A-
-
-
-
3Gain-
PLA2G6p.A209T
Missense
SNP
0.506
2--
PLA2R1p.G1374Afs*32
Frame_Shift_Del
DEL
0.698
2--
PLAG1-
-
-
-
3Gain-
PLCB1p.A396V
Missense
SNP
0.393
2--
PLCE1p.G2035D
Missense
SNP
0.505
2--
PLCZ1p.S271Y
Missense
SNP
0.468
2--
PLD5-
-
-
-
3Gain-
PLECp.A4361T
Missense
SNP
0.319
3Gain-
PLEKHA4p.V347A
Missense
SNP
0.558
2--
PLEKHA6-
-
-
-
3Gain-
PLEKHA7p.F802Sfs*21
p.V560A
Frame_Shift_Del
Missense
DEL
SNP
0.390
0.472
2--
PLEKHF2-
-
-
-
3Gain-
PLEKHG3p.S680N
Missense
SNP
0.505
2--
PLEKHO1-
-
-
-
3Gain-
PLIN2p.S129F
Missense
SNP
0.487
2--
PLK3p.N338Tfs*35
Frame_Shift_Del
DEL
0.541
2--
PLSCR2p.G55D
Missense
SNP
0.389
2--
PLXNA1p.S644F
Missense
SNP
0.314
2--
PLXNA2-
-
-
-
3Gain-
PM20D1-
-
-
-
3Gain-
PMELp.A537Cfs*37
Frame_Shift_Ins
INS
0.343
2--
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PMLp.E27Rfs*71
p.I548L
Frame_Shift_Del
Missense
DEL
SNP
0.397
0.652
2--
PMP2-
-
-
-
3Gain-
PMVK-
-
-
-
3Gain-
PNPLA3p.M281T
Missense
SNP
0.549
2--
PNPLA7p.I1200Sfs*148
Frame_Shift_Del
DEL
0.434
2--
POGKp.K598Rfs*3
Frame_Shift_Del
DEL
0.558
3Gain-
POGZ-
-
-
-
3Gain-
POLD1p.P116Hfs*53
Frame_Shift_Del
DEL
0.544
2--
POLEp.Q1280*
Nonsense
SNP
0.426
2--
POLR2K-
-
-
-
3Gain-
POLR3C-
-
-
-
3Gain-
POLR3GL-
-
-
-
3Gain-
POP1-
-
-
-
3Gain-
PORCNp.H346R
Missense
SNP
0.446
NDND-
POU2F1-
-
-
-
3Gain-
POU2F2p.A441Gfs*61
Frame_Shift_Ins
INS
0.297
2--
POU3F1p.G168Rfs*119
Frame_Shift_Ins
INS
0.323
2--
POU3F2p.S429Vfs*60
Frame_Shift_Del
DEL
0.402
2--
POU5F1B-
-
-
-
3Gain-
POU5F2p.V174I
Missense
SNP
0.525
2--
PPDPFL-
-
-
-
3Gain-
PPFIA3p.E826K
Missense
SNP
0.467
2--
PPFIA4-
-
-
-
3Gain-
PPOX-
-
-
-
3Gain-
PPP1R12B-
-
-
-
3Gain-
PPP1R15B-
-
-
-
3Gain-
PPP1R16A-
-
-
-
3Gain-
PPP1R26p.P581H
Missense
SNP
0.547
2--
PPP1R42-
-
-
-
3Gain-
PPP2R3Ap.S16I
Missense
SNP
0.562
2--
PPP2R5A-
-
-
-
3Gain-
PPP2R5Bp.L285Pfs*60
Frame_Shift_Ins
INS
0.330
2--
PPP4Cp.G165W
Missense
SNP
0.547
2--
PPP6R2p.S171G
p.Q467*
p.A914S
Missense
Nonsense
Missense
SNP
SNP
SNP
0.552
0.452
0.082
2--
PRCC-
-
-
-
3Gain-
PRDM14-
-
-
-
3Gain-
PRDM6p.A163T
Missense
SNP
0.462
2--
PRDX4p.G38*
Nonsense
SNP
0.489
NDND-
PRDX6-
-
-
-
3Gain-
PRELP-
-
-
-
3Gain-
PREX2p.S565Rfs*10
p.R52*
Frame_Shift_Del
Nonsense
DEL
SNP
0.357
0.067
3Gain-
PRG4-
-
-
-
3Gain-
PRKAB2-
-
-
-
3Gain-
PRMT2p.V389I
Missense
SNP
0.502
2--
PRMT9p.P392L
Missense
SNP
0.327
2--
PROCA1p.P158T
Missense
SNP
0.427
2--
PROKR1p.P45L
Missense
SNP
0.461
2--
PROX1-
-
-
-
3Gain-
PRPF3-
-
-
-
3Gain-
PRPS2p.H126R
Missense
SNP
0.515
NDND-
PRR12p.R284C
Missense
SNP
0.511
2--
PRR13p.N17Ifs*75
Frame_Shift_Del
DEL
0.566
2--
PRR27p.K17N
Missense
SNP
0.531
2--
PRR35p.A479V
Missense
SNP
0.505
2--
PRR36p.P702H
Missense
SNP
0.525
2--
PRR5-ARHGAP8p.P342Lfs*3
Frame_Shift_Del
DEL
0.526
2--
PRR9-
-
-
-
3Gain-
PRRC2Ap.Q1948R
Missense
SNP
0.550
2--
PRRC2C-
-
-
-
3Gain-
PRRG3p.S193Pfs*5
Frame_Shift_Del
DEL
0.490
NDND-
PRRX1-
-
-
-
3Gain-
PRSS12p.D819N
Missense
SNP
0.473
2--
PRSS38-
-
-
-
3Gain-
PRUNE1-
-
-
-
3Gain-
PSCA-
-
-
-
3Gain-
PSEN2-
-
-
-
3Gain-
PSKH2p.G211W
Missense
SNP
0.311
3Gain-
PSMA8p.K50Nfs*12
Frame_Shift_Del
DEL
0.527
2--
PSMB4-
-
-
-
3Gain-
PSMD13p.I304Nfs*5
Frame_Shift_Ins
INS
0.313
2--
PSMD4-
-
-
-
3Gain-
PSME4p.G72D
Missense
SNP
0.533
2--
PTCD3p.V347A
Missense
SNP
0.509
2--
PTCHD3p.F588Lfs*18
Frame_Shift_Del
DEL
0.402
2--
PTDSS1-
-
-
-
3Gain-
PTENp.P246L
Missense
SNP
0.485
2--
PTGER4p.R291*
Nonsense
SNP
0.474
2--
PTGS2-
-
-
-
3Gain-
PTK2-
-
-
-
3Gain-
PTP4A3-
-
-
-
3Gain-
PTPN14-
-
-
-
3Gain-
PTPN7-
-
-
-
3Gain-
PTPRC-
-
-
-
3Gain-
PTPRK-
-
-
-
2-PTPRK--RSPO3
PTPRN2p.E260Rfs*52
Frame_Shift_Del
DEL
0.465
2--
PTPRZ1p.E1179G
Missense
SNP
0.505
2--
PUF60-
-
-
-
3Gain-
PXDNp.A758Rfs*109
Frame_Shift_Ins
INS
0.333
2--
PXDNL-
-
-
-
3Gain-
PXT1p.V44A
Missense
SNP
0.360
2--
PYCR2-
-
-
-
3Gain-
PYCR3-
-
-
-
3Gain-
PYGMp.A443T
Missense
SNP
0.518
2--
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
QKIp.K134Rfs*14
Frame_Shift_Del
DEL
0.562
2--
QSER1p.P965S
Missense
SNP
0.425
2--
QSOX1-
-
-
-
3Gain-
R3HDM2p.D913Tfs*41
Frame_Shift_Del
DEL
0.371
2--
RAB11FIP1p.A1130Pfs*50
Frame_Shift_Del
DEL
0.540
2--
RAB11FIP2p.A7T
Missense
SNP
0.507
2--
RAB13-
-
-
-
3Gain-
RAB25-
-
-
-
3Gain-
RAB29-
-
-
-
3Gain-
RAB2A-
-
-
-
3Gain-
RAB3Cp.F167L
Missense
SNP
0.472
2--
RAB3GAP2-
-
-
-
3Gain-
RAB3IPp.X244_splice
Splice_Site
SNP
0.404
2--
RAB4A-
-
-
-
3Gain-
RABAC1p.Q181*
Nonsense
SNP
0.504
2--
RABGAP1L-
-
-
-
3Gain-
RABIF-
-
-
-
3Gain-
RAD21p.T366A
Missense
SNP
0.380
3Gain-
RAD51AP2p.T316Nfs*13
Frame_Shift_Ins
INS
0.344
2--
RAD54B-
-
-
-
3Gain-
RALGPS2-
-
-
-
3Gain-
RALYL-
-
-
-
3Gain-
RAPGEF1p.E994D
Missense
SNP
0.505
2--
RAPGEF6p.N832Ifs*17
Frame_Shift_Del
DEL
0.333
2--
RASAL2-
-
-
-
3Gain-
RASGRF2p.A995V
Missense
SNP
0.464
2--
RASSF5-
-
-
-
3Gain-
RB1CC1-
-
-
-
3Gain-
RBBP5-
-
-
-
3Gain-
RBBP8p.K357Nfs*3
Frame_Shift_Del
DEL
0.250
2--
RBM12B-
-
-
-
3Gain-
RBM15p.R834H
Missense
SNP
0.456
2--
RBM18p.R177Gfs*21
Frame_Shift_Del
DEL
0.558
2--
RBM20p.R392W
Missense
SNP
0.460
2--
RBM27p.K816Nfs*5
Frame_Shift_Del
DEL
0.424
2--
RBM34-
-
-
-
3Gain-
RBM42p.P333Qfs*24
p.A255V
Frame_Shift_Del
Missense
DEL
SNP
0.449
0.385
2--
RBM7p.R191C
Missense
SNP
0.463
2--
RBM8A-
-
-
-
3Gain-
RC3H1-
-
-
-
3Gain-
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RD3-
-
-
-
3Gain-
RD3Lp.F4Lfs*4
Frame_Shift_Del
DEL
0.439
2--
RDH10p.N145D
Missense
SNP
0.358
3GainRDH10--RN7SL2
RECQL4-
-
-
-
3Gain-
REN-
-
-
-
3Gain-
RENBPp.D30G
Missense
SNP
0.421
NDND-
REREp.S1391I
Missense
SNP
0.468
2--
RFTN1p.T366A
Missense
SNP
0.452
2--
RFX5-
-
-
-
3Gain-
RGAG1p.A1049T
Missense
SNP
0.422
NDND-
RGL1-
-
-
-
3Gain-
RGS1-
-
-
-
3Gain-
RGS13-
-
-
-
3Gain-
RGS16-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS20p.H151Ifs*3
Frame_Shift_Del
DEL
0.269
3Gain-
RGS21-
-
-
-
3Gain-
RGS22-
-
-
-
3Gain-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS7-
-
-
-
3Gain-
RGS8-
-
-
-
3Gain-
RGSL1-
-
-
-
3Gain-
RHBG-
-
-
-
3Gain-
RHEX-
-
-
-
3Gain-
RHOQp.R193Efs*2
Frame_Shift_Del
DEL
0.273
2--
RHOU-
-
-
-
3Gain-
RHPN1-
-
-
-
3Gain-
RIC1p.D1216Y
Missense
SNP
0.560
2--
RICTOR-
-
-
-
1Loss-
RIDA-
-
-
-
3Gain-
RIIAD1-
-
-
-
3Gain-
RIMBP2p.L79Wfs*15
p.T328M
Frame_Shift_Del
Missense
DEL
SNP
0.500
0.475
2--
RIMS2-
-
-
-
3Gain-
RIPK2-
-
-
-
3Gain-
RIT1-
-
-
-
3Gain-
RMDN1-
-
-
-
3Gain-
RMND5Bp.E10Afs*16
Frame_Shift_Del
DEL
0.058
2--
RN7SKP48-
-
-
-
NDNDRN7SKP71--RN7SKP48
RN7SKP71-
-
-
-
NDNDRN7SKP71--RN7SKP48
RN7SL2-
-
-
-
NDNDRDH10--RN7SL2
RNASEL-
-
-
-
3Gain-
RNF111p.A564T
Missense
SNP
0.446
2--
RNF113Ap.D254N
Missense
SNP
0.451
NDND-
RNF115-
-
-
-
3Gain-
RNF128p.V42L
Missense
SNP
0.478
NDND-
RNF139-
-
-
-
3Gain-
RNF150p.A2V
Missense
SNP
0.456
2--
RNF17p.G1232Efs*6
Frame_Shift_Del
DEL
0.552
2--
RNF187-
-
-
-
3Gain-
RNF19A-
-
-
-
3Gain-
RNF2-
-
-
-
3Gain-
RNF216p.W790Dfs*5
Frame_Shift_Del
DEL
0.516
2--
RNPEP-
-
-
-
3Gain-
ROBO2p.R399H
Missense
SNP
0.525
2--
RORC-
-
-
-
3Gain-
RP1-
-
-
-
3Gain-
RP11-108O10.8p.G12V
Missense
SNP
0.422
NDND-
RP11-310K10.1p.V80Cfs*47
Frame_Shift_Del
DEL
0.076
NDND-
RP11-407N17.3p.P1307Hfs*15
Frame_Shift_Del
DEL
0.594
NDND-
RP11-407P15.2p.F163Lfs*9
Frame_Shift_Del
DEL
0.423
NDND-
RPE65p.E456*
Nonsense
SNP
0.606
2--
RPGRIP1p.A288T
Missense
SNP
0.486
2--
RPL19p.R170H
Missense
SNP
0.244
2--
RPL22p.K89Nfs*3
Frame_Shift_Del
DEL
0.500
2--
RPL30-
-
-
-
3Gain-
RPL5p.R209H
Missense
SNP
0.494
2--
RPL7-
-
-
-
3Gain-
RPL8-
-
-
-
3Gain-
RPRD2p.K755N
Missense
SNP
0.307
3Gain-
RPS20-
-
-
-
3Gain-
RPS27-
-
-
-
3Gain-
RPS6KA4p.S772Pfs*12
Frame_Shift_Del
DEL
0.617
2--
RPS6KC1-
-
-
-
3Gain-
RPTN-
-
-
-
3Gain-
RRM2B-
-
-
-
3Gain-
RRNAD1-
-
-
-
3Gain-
RRP15-
-
-
-
3Gain-
RRS1-
-
-
-
3Gain-
RSPO2-
-
-
-
3Gain-
RSPO3-
-
-
-
2-PTPRK--RSPO3
RTEL1p.V515A
Missense
SNP
0.455
2--
RUBCNp.A917V
Missense
SNP
0.057
2--
RUNX1T1-
-
-
-
3Gain-
RUSC1-
-
-
-
3Gain-
RXFP4-
-
-
-
3Gain-
RXRG-
-
-
-
3Gain-
RYR2-
-
-
-
3Gain-
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
S1PR5p.R241C
p.A153V
Missense
Missense
SNP
SNP
0.515
0.536
2--
SACSp.A1796V
Missense
SNP
0.484
2--
SAFBp.Y801Lfs*4
Frame_Shift_Ins
INS
0.291
2--
SAMD12-
-
-
-
3Gain-
SAMD9p.F1217Lfs*32
Frame_Shift_Del
DEL
0.433
2--
SBF1p.E1569Tfs*54
p.Q43Rfs*41
p.G1315V
Frame_Shift_Del
Frame_Shift_Del
Missense
DEL
DEL
SNP
0.445
0.390
0.507
2--
SBSPON-
-
-
-
3Gain-
SCAF1p.R868S
Missense
SNP
0.422
2--
SCAF4p.P719Lfs*29
Frame_Shift_Del
DEL
0.387
2--
SCAMP3-
-
-
-
3Gain-
SCCPDH-
-
-
-
3Gain-
SCHIP1p.A218V
Missense
SNP
0.454
2--
SCN1Bp.V22M
Missense
SNP
0.484
2--
SCNM1-
-
-
-
3Gain-
SCRIB-
-
-
-
3Gain-
SCRT1-
-
-
-
3Gain-
SCX-
-
-
-
3Gain-
SCYL3-
-
-
-
3Gain-
SDC1p.G36D
Missense
SNP
0.473
2--
SDC2-
-
-
-
3Gain-
SDCBP-
-
-
-
3Gain-
SDCCAG8-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDHC-
-
-
-
3Gain-
SDK1p.A98T
Missense
SNP
0.467
2--
SDR16C5-
-
-
-
3Gain-
SEC16B-
-
-
-
3Gain-
SEL1L2p.V264*
Frame_Shift_Del
DEL
0.095
2--
SELE-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SEMA3Fp.A294V
Missense
SNP
0.100
2--
SEMA4A-
-
-
-
3Gain-
SEMA5Ap.R774H
Missense
SNP
0.419
2--
SEMA6C-
-
-
-
3Gain-
SENP2p.E257Kfs*29
Frame_Shift_Del
DEL
0.379
2--
SERPINB8p.P155L
Missense
SNP
0.390
2--
SERPINC1p.R56H
Missense
SNP
0.358
3Gain-
SERPIND1p.W381L
Missense
SNP
0.449
2--
SERTAD4-
-
-
-
3Gain-
SETBP1p.R421Dfs*23
Frame_Shift_Del
DEL
0.480
2--
SETD1Bp.H8Tfs*27
Frame_Shift_Del
DEL
0.424
2--
SETDB1p.T397Nfs*15
Frame_Shift_Ins
INS
0.336
3Gain-
SF3B4-
-
-
-
3Gain-
SFT2D2-
-
-
-
3Gain-
SFXN3p.A74V
Missense
SNP
0.460
2--
SGK1p.P466Lfs*6
Frame_Shift_Del
DEL
0.458
2--
SGK3-
-
-
-
3Gain-
SGTAp.K103T
Missense
SNP
0.492
2--
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH3BGRL3p.R32C
Missense
SNP
0.456
2--
SH3BP5L-
-
-
-
3Gain-
SH3D21p.T570Rfs*10
Frame_Shift_Del
DEL
0.393
2--
SHANK1p.H35Ifs*78
p.T40Pfs*33
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.278
0.397
2--
SHARPIN-
-
-
-
3Gain-
SHC1p.V431I
Missense
SNP
0.305
3Gain-
SHC2p.D432Gfs*4
p.T258M
Frame_Shift_Ins
Missense
INS
SNP
0.348
0.355
2--
SHCBP1Lp.Y260Mfs*84
Frame_Shift_Del
DEL
0.646
3Gain-
SHE-
-
-
-
3Gain-
SHISA4-
-
-
-
3Gain-
SHISA7p.P461Afs*140
Frame_Shift_Ins
INS
0.121
2--
SHPRHp.E166Nfs*3
Frame_Shift_Del
DEL
0.552
2--
SHROOM2p.N1204T
Missense
SNP
0.504
NDND-
SIDT2p.A762V
Missense
SNP
0.408
2--
SIM2p.R318H
Missense
SNP
0.488
2--
SIPA1L1p.R164Efs*17
Frame_Shift_Del
DEL
0.458
2--
SIPA1L2-
-
-
-
3Gain-
SIPA1L3p.A817T
Missense
SNP
0.469
2--
SKA1p.L249I
Missense
SNP
0.462
2--
SLA-
-
-
-
3Gain-
SLAIN1p.G124D
Missense
SNP
0.479
2--
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9p.S175N
Missense
SNP
0.688
3Gain-
SLC10A5-
-
-
-
3Gain-
SLC12A4p.C35Y
Missense
SNP
0.494
2--
SLC12A7p.H686Tfs*11
Frame_Shift_Del
DEL
0.417
2--
SLC18B1p.A415T
Missense
SNP
0.565
2--
SLC19A2-
-
-
-
3Gain-
SLC22A11p.V194I
Missense
SNP
0.431
2--
SLC22A16p.S169L
Missense
SNP
0.527
2--
SLC25A18p.T247A
Missense
SNP
0.631
2--
SLC25A21p.T175P
Missense
SNP
0.537
2--
SLC25A27p.V100L
Missense
SNP
0.476
2--
SLC25A32-
-
-
-
3Gain-
SLC25A33p.F234Lfs*24
Frame_Shift_Del
DEL
0.505
2--
SLC25A39p.P135Hfs*13
p.K329R
Frame_Shift_Del
Missense
DEL
SNP
0.463
0.488
2--
SLC25A44-
-
-
-
3Gain-
SLC26A7-
-
-
-
3Gain-
SLC26A9-
-
-
-
3Gain-
SLC27A3-
-
-
-
3Gain-
SLC2A4p.V32L
Missense
SNP
0.526
2--
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC30A8-
-
-
-
3Gain-
SLC34A1p.L101V
Missense
SNP
0.418
2--
SLC35A5p.Y300Mfs*8
Frame_Shift_Del
DEL
0.413
2--
SLC35F1p.P7S
Missense
SNP
0.516
2--
SLC35F3-
-
-
-
3Gain-
SLC36A1p.S2F
Missense
SNP
0.421
2--
SLC39A1-
-
-
-
3Gain-
SLC39A3p.G140Afs*18
Frame_Shift_Del
DEL
0.483
2--
SLC39A4-
-
-
-
3Gain-
SLC41A1-
-
-
-
3Gain-
SLC44A3p.F574Lfs*4
Frame_Shift_Del
DEL
0.420
2--
SLC45A1p.A537T
Missense
SNP
0.512
2--
SLC45A3-
-
-
-
3Gain-
SLC45A4-
-
-
-
3Gain-
SLC4A1p.E125D
Missense
SNP
0.489
2--
SLC4A2p.A915T
Missense
SNP
0.444
2--
SLC4A5p.I1069F
Missense
SNP
0.468
2--
SLC4A8p.T896M
Missense
SNP
0.362
2--
SLC50A1-
-
-
-
3Gain-
SLC52A2p.P426Rfs*63
Frame_Shift_Del
DEL
0.247
3Gain-
SLC5A11p.M386V
p.S591N
Missense
Missense
SNP
SNP
0.439
0.353
2--
SLC5A12p.V243M
Missense
SNP
0.375
2--
SLC6A15p.N4Ifs*5
p.V620A
Frame_Shift_Del
Missense
DEL
SNP
0.438
0.536
2--
SLC6A3p.V221M
Missense
SNP
0.468
2--
SLC6A5p.A42T
p.A67V
Missense
Missense
SNP
SNP
0.496
0.550
2--
SLC7A13-
-
-
-
3Gain-
SLC7A8p.R418Afs*40
Frame_Shift_Del
DEL
0.104
2--
SLC9A4p.R219C
Missense
SNP
0.452
2--
SLC9A7p.M106V
Missense
SNP
0.474
NDND-
SLC9C1p.A1146T
Missense
SNP
0.555
2--
SLC9C2-
-
-
-
3Gain-
SLCO2A1p.F277Sfs*8
Frame_Shift_Del
DEL
0.455
2--
SLCO2B1p.G343V
Missense
SNP
0.500
2--
SLCO5A1-
-
-
-
3Gain-
SLFN14p.K192*
Frame_Shift_Ins
INS
0.280
2--
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SLX4p.P151H
Missense
SNP
0.427
2--
SMAD1p.T292A
Missense
SNP
0.442
2--
SMARCA2p.E1330K
Missense
SNP
0.412
2--
SMC4p.T48I
Missense
SNP
0.444
2--
SMCP-
-
-
-
3Gain-
SMG1p.E1667V
Missense
SNP
0.536
2--
SMG5-
-
-
-
3Gain-
SMG7p.M803*
Frame_Shift_Del
DEL
0.310
3Gain-
SMG8p.Q786R
Missense
SNP
0.652
2--
SMTNp.S590Vfs*64
Frame_Shift_Del
DEL
0.440
2--
SMYD2-
-
-
-
3Gain-
SMYD3-
-
-
-
3Gain-
SNAI2p.Q148*
Nonsense
SNP
0.299
3Gain-
SNAP47-
-
-
-
3Gain-
SNAPC2p.P294Qfs*11
Frame_Shift_Del
DEL
0.449
2--
SNAPIN-
-
-
-
3Gain-
SNHG28-
-
-
-
3Gain-
SNRPE-
-
-
-
3Gain-
SNTB1-
-
-
-
3Gain-
SNTG1p.Y52C
Missense
SNP
0.293
3Gain-
SNX15p.H109Y
Missense
SNP
0.483
2--
SNX16-
-
-
-
3Gain-
SNX27-
-
-
-
3Gain-
SNX31-
-
-
-
3Gain-
SOAT1-
-
-
-
3Gain-
SOAT2p.R417W
Missense
SNP
0.216
2--
SOBPp.Y527C
Missense
SNP
0.561
2--
SOCS3p.R94L
Missense
SNP
0.413
2--
SORL1p.D1006G
p.D1570N
Missense
Missense
SNP
SNP
0.512
0.435
2--
SOWAHAp.P155S
Missense
SNP
0.458
2--
SOWAHBp.A183S
Missense
SNP
0.510
2--
SOX1p.Q71*
p.R108C
Nonsense
Missense
SNP
SNP
0.482
0.507
2--
SOX13-
-
-
-
3Gain-
SOX15-
-
-
-
1Loss-
SOX17-
-
-
-
3Gain-
SOX8p.D27G
Missense
SNP
0.499
2--
SOX9p.P374Rfs*9
Frame_Shift_Del
DEL
0.425
2--
SP9p.G121R
Missense
SNP
0.451
2--
SPAG1-
-
-
-
3Gain-
SPAG11Bp.F94Sfs*43
Frame_Shift_Del
DEL
0.213
2--
SPAG17p.I1502N
p.D770N
Missense
Missense
SNP
SNP
0.579
0.558
2--
SPAG6p.H442Y
Missense
SNP
0.577
2--
SPAG9p.R549Gfs*28
Frame_Shift_Del
DEL
0.472
2--
SPAM1p.P271T
Missense
SNP
0.553
2--
SPATA17-
-
-
-
3Gain-
SPATA21p.A263T
Missense
SNP
0.452
2--
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA5L1p.K247N
Missense
SNP
0.507
2--
SPATC1-
-
-
-
3Gain-
SPEF2p.P1181T
Missense
SNP
0.692
2--
SPEGp.Q2233Rfs*6
Frame_Shift_Del
DEL
0.496
2--
SPHAR-
-
-
-
3Gain-
SPIRE1p.R627W
Missense
SNP
0.517
2--
SPPL2Cp.P619Lfs*7
Frame_Shift_Del
DEL
0.426
2--
SPRED1p.I60Yfs*18
Frame_Shift_Ins
INS
0.296
2--
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR2G-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRTN-
-
-
-
3Gain-
SPTA1p.T114Nfs*39
Frame_Shift_Ins
INS
0.215
3Gain-
SPTBp.R1570L
Missense
SNP
0.458
2--
SPTY2D1p.S139L
Missense
SNP
0.407
2--
SQLE-
-
-
-
3Gain-
SRBD1p.A578V
Missense
SNP
0.393
2--
SRGAP1p.N105S
p.A613V
Missense
Missense
SNP
SNP
0.512
0.450
2--
SRGAP2-
-
-
-
3Gain-
SRGAP2B-
-
-
-
3Gain-
SRP9-
-
-
-
3Gain-
SSR2-
-
-
-
3Gain-
ST18-
-
-
-
3Gain-
ST3GAL1-
-
-
-
3Gain-
ST3GAL4p.R211*
Nonsense
SNP
0.072
2--
ST8SIA2p.R145Qfs*8
Frame_Shift_Ins
INS
0.312
2--
STAG2p.G49C
Missense
SNP
0.474
NDND-
STARp.G42Afs*67
Frame_Shift_Del
DEL
0.572
2--
STARD10p.S204P
Missense
SNP
0.389
2--
STAU2p.A167V
Missense
SNP
0.291
3Gain-
STIM1p.A225V
Missense
SNP
0.429
2--
STK11IPp.C757Y
Missense
SNP
0.456
2--
STK3-
-
-
-
3Gain-
STMN2-
-
-
-
3Gain-
STRCp.R1521Gfs*15
Frame_Shift_Del
DEL
0.560
2--
STUM-
-
-
-
3Gain-
STX6-
-
-
-
3Gain-
SUCLG2p.F189Lfs*11
Frame_Shift_Del
DEL
0.449
2--
SUCO-
-
-
-
3Gain-
SULF1p.A75Gfs*48
p.F343Lfs*7
p.G743D
Frame_Shift_Ins
Frame_Shift_Del
Missense
INS
DEL
SNP
0.241
0.203
0.350
3Gain-
SUSD4p.P412Qfs*51
Frame_Shift_Del
DEL
0.288
3Gain-
SV2Ap.R112Q
p.R48H
Missense
Missense
SNP
SNP
0.245
0.336
3Gain-
SWT1p.R180I
Missense
SNP
0.556
3Gain-
SYBU-
-
-
-
3Gain-
SYDE1p.D704N
Missense
SNP
0.494
2--
SYNE1p.I6377M
Missense
SNP
0.525
2--
SYNJ1p.G1314D
Missense
SNP
0.512
2--
SYT11p.D120Y
Missense
SNP
0.259
3Gain-
SYT14-
-
-
-
3Gain-
SYT2-
-
-
-
3Gain-
SYTL2p.L19Ffs*20
Frame_Shift_Ins
INS
0.331
2--
SYVN1p.R535Gfs*96
Frame_Shift_Del
DEL
0.478
2--
TACR2p.T392Pfs*19
Frame_Shift_Del
DEL
0.407
2--
TADA1-
-
-
-
3Gain-
TAF10p.X151_splice
Splice_Site
DEL
0.235
2--
TAF12p.T35I
Missense
SNP
0.477
2--
TAF15p.G530Afs*116
Frame_Shift_Del
DEL
0.440
2--
TAF1A-
-
-
-
3Gain-
TAF1Dp.K94Rfs*26
Frame_Shift_Del
DEL
0.379
2--
TAF2-
-
-
-
3Gain-
TAF5L-
-
-
-
3Gain-
TAF9p.P167Hfs*10
Frame_Shift_Del
DEL
0.394
2--
TAGLN2-
-
-
-
3Gain-
TAMM41p.K206N
p.E196Q
Missense
Missense
SNP
SNP
0.433
0.471
2--
TARBP1-
-
-
-
3Gain-
TARS2-
-
-
-
3Gain-
TATDN1-
-
-
-
3Gain-
TATDN3-
-
-
-
3Gain-
TBC1D1p.A427V
Missense
SNP
0.456
2--
TBC1D10Cp.A321Rfs*100
Frame_Shift_Del
DEL
0.463
2--
TBC1D13p.A206V
Missense
SNP
0.510
2--
TBC1D15p.T380Lfs*7
Frame_Shift_Del
DEL
0.441
2--
TBC1D16p.R378H
Missense
SNP
0.150
2--
TBC1D23p.K649Nfs*18
Frame_Shift_Del
DEL
0.458
2--
TBC1D31-
-
-
-
3Gain-
TBC1D9Bp.K1007N
Missense
SNP
0.387
2--
TBCE-
-
-
-
3Gain-
TBX10p.F98Sfs*3
Frame_Shift_Del
DEL
0.478
2--
TBX19-
-
-
-
3Gain-
TBX2p.A330Rfs*38
Frame_Shift_Del
DEL
0.390
2--
TBX22p.V12M
Missense
SNP
0.459
NDND-
TCAPp.L156M
Missense
SNP
0.510
2--
TCEA1-
-
-
-
3Gain-
TCEAL4p.R77W
Missense
SNP
0.504
NDND-
TCF24p.P50A
Missense
SNP
0.332
3Gain-
TCF3p.T533I
Missense
SNP
0.527
2--
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCHPp.K174Nfs*26
Frame_Shift_Del
DEL
0.443
2--
TCOF1p.A795V
p.K1394N
Missense
Missense
SNP
SNP
0.453
0.429
2--
TCP11X2p.L338Sfs*37
Frame_Shift_Del
DEL
0.250
NDND-
TDRD10-
-
-
-
3Gain-
TDRD5-
-
-
-
3Gain-
TDRKH-
-
-
-
3Gain-
TECPR1p.A669T
Missense
SNP
0.540
2--
TECRLp.K98Q
Missense
SNP
0.333
2--
TEDDM1-
-
-
-
3Gain-
TENM1p.N1849D
p.R1065*
Missense
Nonsense
SNP
SNP
0.528
0.471
NDND-
TERF1-
-
-
-
3Gain-
TET3p.S1618Afs*5
Frame_Shift_Del
DEL
0.093
2--
TEX15p.A1007Lfs*12
Frame_Shift_Del
DEL
0.592
2--
TEX2p.E375D
Missense
SNP
0.471
2--
TEX35-
-
-
-
3Gain-
TEX43p.L83*
Frame_Shift_Del
DEL
0.620
2--
TEX50-
-
-
-
3Gain-
TFB2M-
-
-
-
3Gain-
TG-
-
-
-
3Gain-
TGFB2-
-
-
-
3Gain-
TGFBR2p.L5Afs*37
p.K153Sfs*35
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.311
0.450
2--
TGM2p.E70D
Missense
SNP
0.415
2--
TGS1-
-
-
-
3Gain-
THBS1p.A39V
Missense
SNP
0.530
2--
THBS3-
-
-
-
3Gain-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEM6-
-
-
-
3Gain-
THTPAp.G27Afs*19
Frame_Shift_Del
DEL
0.479
2--
THUMPD3p.F240S
Missense
SNP
0.460
2--
TIGD5-
-
-
-
3Gain-
TIMM17A-
-
-
-
3Gain-
TIPRL-
-
-
-
3Gain-
TLDC2p.E60D
Missense
SNP
0.435
2--
TLR10p.A753Hfs*28
Frame_Shift_Del
DEL
0.468
2--
TLR5-
-
-
-
3Gain-
TLR8p.D644N
Missense
SNP
0.370
NDND-
TLX2p.A199T
Missense
SNP
0.525
2--
TMCC2-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMEM132Ap.P516H
Missense
SNP
0.401
2--
TMEM132Cp.A416T
p.A897T
Missense
Missense
SNP
SNP
0.448
0.485
2--
TMEM132Dp.T207Rfs*75
p.V448A
Frame_Shift_Del
Missense
DEL
SNP
0.435
0.404
2--
TMEM143p.R42Gfs*45
Frame_Shift_Del
DEL
0.487
2--
TMEM151Bp.A533T
Missense
SNP
0.481
2--
TMEM171p.F258S
Missense
SNP
0.488
2--
TMEM183A-
-
-
-
3Gain-
TMEM206-
-
-
-
3Gain-
TMEM249-
-
-
-
3Gain-
TMEM256-PLSCR3p.G242Afs*23
Frame_Shift_Del
DEL
0.564
2--
TMEM37p.H62Y
Missense
SNP
0.478
2--
TMEM55Ap.I180Nfs*6
Frame_Shift_Ins
INS
0.293
NDND-
TMEM63A-
-
-
-
3Gain-
TMEM64-
-
-
-
3Gain-
TMEM65-
-
-
-
3Gain-
TMEM67-
-
-
-
3Gain-
TMEM68-
-
-
-
3Gain-
TMEM70-
-
-
-
3Gain-
TMEM71-
-
-
-
3Gain-
TMEM74-
-
-
-
3Gain-
TMEM79p.R163Gfs*17
Frame_Shift_Del
DEL
0.640
3Gain-
TMEM81-
-
-
-
3Gain-
TMEM9-
-
-
-
3Gain-
TMEM92p.L98Wfs*26
Frame_Shift_Del
DEL
0.960
2--
TMEM94p.S895Pfs*13
Frame_Shift_Del
DEL
0.449
2--
TMIEp.G15A
Missense
SNP
0.494
2--
TMOD4-
-
-
-
3Gain-
TMPRSS2p.V86Cfs*9
Frame_Shift_Del
DEL
0.487
2--
TMTC2p.A798V
Missense
SNP
0.589
2--
TNFAIP8L2-
-
-
-
3Gain-
TNFRSF11B-
-
-
-
3Gain-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNIP1p.A287T
Missense
SNP
0.440
2--
TNKSp.S4*
Nonsense
SNP
0.470
2--
TNN-
-
-
-
3Gain-
TNNI1-
-
-
-
3Gain-
TNNT2-
-
-
-
3Gain-
TNPO1p.R463C
Missense
SNP
0.497
2--
TNR-
-
-
-
3Gain-
TNRC18p.R1543Afs*13
Frame_Shift_Del
DEL
0.401
2--
TNRC6Cp.G1456C
Missense
SNP
0.502
2--
TNS1p.G532Afs*9
Frame_Shift_Del
DEL
0.381
2--
TOMM20-
-
-
-
3Gain-
TOMM40L-
-
-
-
3Gain-
TONSL-
-
-
-
3Gain-
TOP1MT-
-
-
-
3Gain-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TOX-
-
-
-
3Gain-
TP53BP1p.N1022Kfs*8
Frame_Shift_Ins
INS
0.298
2--
TP53BP2-
-
-
-
3Gain-
TP53INP1-
-
-
-
3Gain-
TPBGLp.R193H
Missense
SNP
0.479
2--
TPD52-
-
-
-
3Gain-
TPM1p.V235G
Missense
SNP
0.462
2--
TPM3-
-
-
-
3Gain-
TPR-
-
-
-
3Gain-
TRAF3IP1p.D577N
Missense
SNP
0.461
2--
TRAF3IP2p.I5T
Missense
SNP
0.589
2--
TRAF3IP3-
-
-
-
3Gain-
TRAF5-
-
-
-
3Gain-
TRAM1-
-
-
-
3Gain-
TRAPPC9-
-
-
-
3Gain-
TRHR-
-
-
-
3Gain-
TRIB1p.G64Afs*36
Frame_Shift_Del
DEL
0.351
3Gain-
TRIM11-
-
-
-
3Gain-
TRIM17-
-
-
-
3Gain-
TRIM37p.G122Rfs*9
Frame_Shift_Ins
INS
0.341
2--
TRIM46-
-
-
-
3Gain-
TRIM51p.M144Cfs*15
p.D24Y
Frame_Shift_Del
Missense
DEL
SNP
0.508
0.455
2--
TRIM55-
-
-
-
3Gain-
TRIM58-
-
-
-
3Gain-
TRIM65p.Q374R
Missense
SNP
0.486
2--
TRIM67-
-
-
-
3Gain-
TRIM68p.R457H
Missense
SNP
0.451
2--
TRIOp.R1926L
Missense
SNP
0.444
2--
TRIP11p.Q1315P
Missense
SNP
0.518
2--
TRIQK-
-
-
-
3Gain-
TRMT12-
-
-
-
3Gain-
TRMT1Lp.T248I
Missense
SNP
0.648
3Gain-
TROVE2-
-
-
-
3Gain-
TRPA1-
-
-
-
3Gain-
TRPM6p.H364Afs*20
p.R1761C
Frame_Shift_Ins
Missense
INS
SNP
0.364
0.462
2--
TRPM7p.W1111*
Nonsense
SNP
0.244
2--
TRPS1-
-
-
-
3Gain-
TRPV2p.A419V
Missense
SNP
0.437
2--
TRPV4p.X779_splice
Splice_Site
SNP
0.429
2--
TSACC-
-
-
-
3Gain-
TSEN15-
-
-
-
3Gain-
TSHZ1p.S564I
Missense
SNP
0.502
2--
TSNARE1-
-
-
-
3Gain-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSPAN10p.Q50R
Missense
SNP
0.477
2--
TSPAN11p.A36V
Missense
SNP
0.103
2--
TSPYL5-
-
-
-
3Gain-
TSSK6p.R159S
Missense
SNP
0.475
2--
TSTA3-
-
-
-
3Gain-
TSTD1-
-
-
-
3Gain-
TTC13-
-
-
-
3Gain-
TTC14p.K301Nfs*8
Frame_Shift_Del
DEL
0.400
2--
TTC17p.A1081T
Missense
SNP
0.517
2--
TTC22p.A510T
Missense
SNP
0.536
2--
TTC24-
-
-
-
3Gain-
TTC7Bp.A104V
Missense
SNP
0.435
2--
TTKp.K192Sfs*18
Frame_Shift_Del
DEL
0.533
2--
TTNp.P17893H
p.E17069V
p.A14508G
Missense
Missense
Missense
SNP
SNP
SNP
0.448
0.521
0.470
2--
TTPA-
-
-
-
3Gain-
TUBGCP2p.N452del
In_Frame_Del
DEL
0.446
2--
TUBGCP6p.V235Cfs*32
Frame_Shift_Del
DEL
0.494
2--
TUFT1-
-
-
-
3Gain-
TULP4p.R369C
Missense
SNP
0.542
2--
TXNIP-
-
-
-
3Gain-
TYK2p.A35V
Missense
SNP
0.453
2--
UAP1-
-
-
-
3Gain-
UBAP2L-
-
-
-
3Gain-
UBASH3Bp.R25Gfs*76
Frame_Shift_Del
DEL
0.409
2--
UBE2Q1-
-
-
-
3Gain-
UBE2T-
-
-
-
3Gain-
UBE2W-
-
-
-
3Gain-
UBN1p.R716Gfs*129
Frame_Shift_Del
DEL
0.430
2--
UBN2p.G426Vfs*40
Frame_Shift_Del
DEL
0.402
2--
UBQLN4-
-
-
-
3Gain-
UBR2p.T871A
Missense
SNP
0.326
2--
UBR5p.E2121Kfs*28
p.R1854C
Frame_Shift_Del
Missense
DEL
SNP
0.402
0.357
3Gain-
UBXN2B-
-
-
-
3Gain-
UCHL5-
-
-
-
3Gain-
UCK2-
-
-
-
3Gain-
UFC1-
-
-
-
3Gain-
UFL1p.R660Gfs*17
Frame_Shift_Del
DEL
0.250
2--
UGT1A4p.W173Gfs*8
Frame_Shift_Del
DEL
0.477
2--
UHMK1-
-
-
-
3Gain-
ULK2p.G101W
Missense
SNP
0.515
2--
UMODL1p.R69W
Missense
SNP
0.494
2--
UNC80p.A2355V
Missense
SNP
0.473
2--
UQCRB-
-
-
-
3Gain-
UQCRHLp.L10R
Missense
SNP
0.497
2--
URB2-
-
-
-
3Gain-
URI1p.R460L
Missense
SNP
0.548
2--
UROC1p.K367Rfs*77
Frame_Shift_Del
DEL
0.343
2--
USF1-
-
-
-
3Gain-
USH2Ap.F1581L
Missense
SNP
0.660
3Gain-
USP19p.A1085V
Missense
SNP
0.493
2--
USP21-
-
-
-
3Gain-
USP26p.G488Wfs*6
p.F348Lfs*7
Frame_Shift_Ins
Frame_Shift_Del
INS
DEL
0.312
0.519
NDND-
USP28p.I750N
Missense
SNP
0.459
2--
UTP23-
-
-
-
3Gain-
UTP25-
-
-
-
3Gain-
VAMP4-
-
-
-
3Gain-
VANGL2-
-
-
-
3Gain-
VASH2-
-
-
-
3Gain-
VAV1p.A34T
Missense
SNP
0.462
2--
VCPp.N616Mfs*63
Frame_Shift_Del
DEL
0.512
2--
VCPIP1-
-
-
-
3Gain-
VCXp.D102N
Missense
SNP
0.207
NDND-
VEPH1p.N554Tfs*5
Frame_Shift_Del
DEL
0.424
2--
VHLL-
-
-
-
3Gain-
VIRMA-
-
-
-
3Gain-
VPS13B-
-
-
-
3Gain-
VPS13Cp.I1477Lfs*24
p.P2544H
Frame_Shift_Del
Missense
DEL
SNP
0.429
0.565
2--
VPS28-
-
-
-
3Gain-
VPS39p.L356P
Missense
SNP
0.493
2--
VPS45-
-
-
-
3Gain-
VPS72-
-
-
-
3Gain-
VSIG10p.P339Lfs*7
Frame_Shift_Del
DEL
0.376
2--
VSIG8-
-
-
-
3Gain-
VXN-
-
-
-
3Gain-
WASF3p.R200I
Missense
SNP
0.503
2--
WASHC5-
-
-
-
3Gain-
WBSCR17p.P420L
Missense
SNP
0.547
NDND-
WDR11p.N309Mfs*4
Frame_Shift_Del
DEL
0.738
2--
WDR12p.W394R
Missense
SNP
0.520
2--
WDR26-
-
-
-
3Gain-
WDR64-
-
-
-
3Gain-
WDR87p.K2759Rfs*57
Frame_Shift_Del
DEL
0.556
2--
WDTC1p.E290Nfs*8
Frame_Shift_Del
DEL
0.490
2--
WDYHV1-
-
-
-
3Gain-
WISP1-
-
-
-
3Gain-
WNK4p.D85Rfs*17
Frame_Shift_Ins
INS
0.321
2--
WNT3A-
-
-
-
3Gain-
WNT9A-
-
-
-
3Gain-
WWP1-
-
-
-
3Gain-
XIRP1p.P28Qfs*141
Frame_Shift_Del
DEL
0.479
2--
XIRP2p.E2755Q
Missense
SNP
0.506
2--
XKR4-
-
-
-
3Gain-
XKR7p.A79T
Missense
SNP
0.515
2--
XKR9-
-
-
-
3Gain-
XPNPEP1p.M60T
Missense
SNP
0.505
2--
XPO6p.I661T
Missense
SNP
0.453
2--
XPOTp.F126Lfs*6
Frame_Shift_Del
DEL
0.118
2--
XPR1-
-
-
-
3Gain-
XYLBp.V37Afs*3
Frame_Shift_Del
DEL
0.439
2--
XYLT1p.K774E
Missense
SNP
0.500
2--
XYLT2p.G529Afs*78
Frame_Shift_Del
DEL
0.951
2--
YOD1-
-
-
-
3Gain-
YTHDC2p.N676Tfs*9
Frame_Shift_Del
DEL
0.617
2--
YTHDF3-
-
-
-
3Gain-
YWHAZ-
-
-
-
3Gain-
YY1p.G189_G191del
In_Frame_Del
DEL
0.360
2--
YY1AP1-
-
-
-
3Gain-
ZBED6-
-
-
-
3Gain-
ZBTB10-
-
-
-
3Gain-
ZBTB11p.L722I
Missense
SNP
0.539
2--
ZBTB17p.H412Y
Missense
SNP
0.499
2--
ZBTB18p.E444Rfs*19
Frame_Shift_Del
DEL
0.338
3Gain-
ZBTB20p.P692Lfs*43
Frame_Shift_Del
DEL
0.448
2--
ZBTB37-
-
-
-
3Gain-
ZBTB4p.P4Lfs*4
Frame_Shift_Del
DEL
0.482
2--
ZBTB41-
-
-
-
3Gain-
ZBTB5p.L52M
Missense
SNP
0.465
2--
ZBTB7Ap.V146Pfs*6
Frame_Shift_Ins
INS
0.463
2--
ZBTB7B-
-
-
-
3Gain-
ZC2HC1A-
-
-
-
3Gain-
ZC3H11A-
-
-
-
3Gain-
ZC3H15p.G11Afs*21
Frame_Shift_Del
DEL
0.413
2--
ZC3H3-
-
-
-
3Gain-
ZCCHC11p.E305Gfs*85
Frame_Shift_Ins
INS
0.372
NDND-
ZCCHC24p.R194Afs*?
Frame_Shift_Del
DEL
0.509
2--
ZDBF2p.K1873E
Missense
SNP
0.413
2--
ZDHHC24p.T200M
Missense
SNP
0.495
2--
ZFAND1-
-
-
-
3Gain-
ZFAT-
-
-
-
3Gain-
ZFC3H1p.K385Nfs*9
Frame_Shift_Del
DEL
0.472
2--
ZFHX3p.P534T
Missense
SNP
0.519
2--
ZFHX4-
-
-
-
3Gain-
ZFP36L2p.A407Rfs*54
p.G107Afs*80
Frame_Shift_Del
Frame_Shift_Del
DEL
DEL
0.438
0.414
2--
ZFP41-
-
-
-
3Gain-
ZFP57p.C177Afs*25
Frame_Shift_Del
DEL
0.424
2--
ZFPL1p.G133D
p.R222Q
Missense
Missense
SNP
SNP
0.479
0.483
2--
ZFPM2-
-
-
-
3Gain-
ZFRp.A43del
In_Frame_Del
DEL
0.410
2--
ZFYVE26p.Q1128H
Missense
SNP
0.494
2--
ZHX1-
-
-
-
3Gain-
ZHX1-C8orf76-
-
-
-
3Gain-
ZHX2-
-
-
-
3Gain-
ZMYM1p.E783K
Missense
SNP
0.477
2--
ZMYM2p.K1044Rfs*33
Frame_Shift_Del
DEL
0.423
2--
ZMYM3p.T407A
Missense
SNP
0.510
NDND-
ZMYND8p.K655Sfs*14
Frame_Shift_Del
DEL
0.935
2--
ZNF124-
-
-
-
3Gain-
ZNF16-
-
-
-
3Gain-
ZNF17p.A310V
Missense
SNP
0.500
2--
ZNF175p.M317V
Missense
SNP
0.475
2--
ZNF224p.T451A
p.R538*
Missense
Nonsense
SNP
SNP
0.089
0.521
2--
ZNF250-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF281-
-
-
-
3Gain-
ZNF282p.A436V
Missense
SNP
0.437
2--
ZNF286Ap.S26I
Missense
SNP
0.603
2--
ZNF292p.S1288Pfs*23
Frame_Shift_Del
DEL
0.571
2--
ZNF311p.P179H
Missense
SNP
0.516
2--
ZNF316p.G351S
p.P610Q
Missense
Missense
SNP
SNP
0.453
0.476
2--
ZNF33Bp.T505Lfs*13
Frame_Shift_Del
DEL
0.404
2--
ZNF34-
-
-
-
3Gain-
ZNF395p.P442Gfs*42
Frame_Shift_Del
DEL
0.468
2--
ZNF444p.A310Rfs*2
Frame_Shift_Del
DEL
0.417
2--
ZNF445p.I618V
Missense
SNP
0.406
2--
ZNF496-
-
-
-
3Gain-
ZNF514p.R221H
Missense
SNP
0.067
2--
ZNF517-
-
-
-
3Gain-
ZNF518Bp.R859G
Missense
SNP
0.421
2--
ZNF549p.R376H
Missense
SNP
0.425
2--
ZNF572-
-
-
-
3Gain-
ZNF623-
-
-
-
3Gain-
ZNF648-
-
-
-
3Gain-
ZNF669-
-
-
-
3Gain-
ZNF670-
-
-
-
3Gain-
ZNF670-ZNF695-
-
-
-
3Gain-
ZNF672p.T349M
Missense
SNP
0.347
3Gain-
ZNF675p.E525V
Missense
SNP
0.487
2--
ZNF678-
-
-
-
3Gain-
ZNF681p.G512D
Missense
SNP
0.446
2--
ZNF687p.H733Pfs*5
Frame_Shift_Ins
INS
0.397
3Gain-
ZNF692-
-
-
-
3Gain-
ZNF695-
-
-
-
3Gain-
ZNF696-
-
-
-
3Gain-
ZNF7-
-
-
-
3Gain-
ZNF704-
-
-
-
3Gain-
ZNF706-
-
-
-
3Gain-
ZNF707-
-
-
-
3Gain-
ZNF729p.K421Nfs*4
Frame_Shift_Del
DEL
0.439
2--
ZNF799p.W208Gfs*34
Frame_Shift_Del
DEL
0.484
2--
ZNF804Ap.P135H
Missense
SNP
0.481
2--
ZNF830p.F251Lfs*6
Frame_Shift_Del
DEL
0.533
2--
ZNF835p.R62Kfs*35
Frame_Shift_Ins
INS
0.327
2--
ZNF883p.E234G
Missense
SNP
0.540
2--
ZNFX1p.R967I
Missense
SNP
0.417
2--
ZNHIT6p.V127L
Missense
SNP
0.444
2--
ZNRF3p.S671Y
Missense
SNP
0.543
2--
ZP4-
-
-
-
3Gain-
ZRANB2p.R301Kfs*34
Frame_Shift_Ins
INS
0.296
2--
ZSCAN10p.A294T
Missense
SNP
0.528
2--