PDMR-175126~011-R~TCAPT6-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AARS2p.T89A
Missense
SNP
0.477
2--
ABCC4p.G1174E
Missense
SNP
0.541
2--
ABHD2p.D43A
Missense
SNP
0.354
2--
AC013717.1-
-
-
-
2-ADAM15--AC013717.1
ACADVL-
-
-
-
2-AL139099.4--ACADVL
ACBD5p.D281G
Missense
SNP
0.436
2--
ACMSDp.A154V
Missense
SNP
0.455
2--
ACOT11p.N583S
Missense
SNP
0.372
2--
ACSF2p.P157T
Missense
SNP
0.475
2--
ADAM15-
-
-
-
2-ADAM15--AC013717.1
ADAM22p.Q553*
Nonsense
SNP
0.443
2--
ADAMTS16p.T702I
Missense
SNP
0.432
2--
ADAMTS6p.A526S
Missense
SNP
0.453
2--
ADCK1p.T382M
Missense
SNP
0.510
2--
ADCY3p.R478H
Missense
SNP
0.526
2--
ADGRB3p.G145W
p.R1279I
Missense
Missense
SNP
SNP
0.543
0.483
2--
ADIRF-
-
-
-
2-AL121753.1--ADIRF
ADRA1Dp.A69S
Missense
SNP
0.615
2--
ADRB3p.R286W
Missense
SNP
0.513
2--
AFAP1L2p.R498C
Missense
SNP
0.488
2--
AFG3L2p.A411V
Missense
SNP
0.512
2--
AGLp.I1144M
Missense
SNP
0.481
2--
AGPSp.M321T
Missense
SNP
0.393
2--
AHNAKp.L1380P
Missense
SNP
0.532
2--
AHRp.F594S
Missense
SNP
0.504
2--
AJUBAp.E497D
Missense
SNP
0.534
2--
AKAP11p.N843K
p.A1570T
Missense
Missense
SNP
SNP
0.434
0.442
2--
AL121753.1-
-
-
-
2-AL121753.1--ADIRF
AL139099.4-
-
-
-
NDNDAL139099.4--ACADVL
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
ALDH4A1p.R139C
Missense
SNP
0.550
2--
ALG10p.P409H
Missense
SNP
0.413
2--
ALKp.E427G
Missense
SNP
0.449
2--
ALOX5p.L317P
Missense
SNP
0.443
2--
ALPK2p.A202V
Missense
SNP
0.460
2--
ALX1p.R312*
Nonsense
SNP
0.437
2--
ANK3p.R290*
Nonsense
SNP
0.483
2--
ANKRD35p.L206P
Missense
SNP
0.564
2--
ANKRD50p.I1332M
Missense
SNP
0.531
2--
APCDD1Lp.Y220C
Missense
SNP
0.444
2--
APOHp.P53S
Missense
SNP
0.372
2--
ARHGAP25p.D388Y
Missense
SNP
0.466
2--
ARHGAP31p.G1235*
Nonsense
SNP
0.463
2--
ARHGAP9p.R342G
Missense
SNP
0.435
2--
ARHGDIGp.X25_splice
Splice_Site
SNP
0.464
2--
ARHGEF10p.G360R
Missense
SNP
0.425
2--
ARHGEF12p.P1078S
Missense
SNP
0.402
2--
ARL10p.P5A
Missense
SNP
0.486
2--
ARMCX3p.Y22C
p.A183V
Missense
Missense
SNP
SNP
0.311
0.305
NDND-
ARXp.V64M
Missense
SNP
0.373
NDND-
ASTE1p.A467S
Missense
SNP
0.421
2--
ATAD2p.G561R
Missense
SNP
0.396
2--
ATAD3Ap.R256H
Missense
SNP
0.474
2--
ATG4Bp.G254C
Missense
SNP
0.546
2--
ATG9Bp.R524H
Missense
SNP
0.510
2--
ATP10Ap.G1328R
Missense
SNP
0.420
2--
ATP10Dp.L839I
Missense
SNP
0.481
2--
ATP11Cp.A468T
Missense
SNP
0.267
NDND-
ATP8B3p.L222P
p.P218L
Missense
Missense
SNP
SNP
0.420
0.531
2--
AURKAp.H366R
Missense
SNP
0.426
2--
AVPR1Bp.V285G
Missense
SNP
0.427
2--
AXIN2p.V539A
p.T536M
Missense
Missense
SNP
SNP
0.480
0.477
2--
B3GAT1p.L115I
Missense
SNP
0.434
2--
B4GALT4p.R301W
Missense
SNP
0.534
2--
BACE1p.R296H
Missense
SNP
0.466
2--
BAHD1p.A702V
Missense
SNP
0.429
2--
BANPp.A153T
Missense
SNP
0.469
2--
BCAR1p.R612W
p.G267C
Missense
Missense
SNP
SNP
0.450
0.550
2--
BCAS4p.P200T
Missense
SNP
0.543
2--
BEND3p.D364G
Missense
SNP
0.412
2--
BICC1p.A3T
Missense
SNP
0.556
2--
BIN3p.K113R
Missense
SNP
0.448
2--
BLACEp.I5S
Missense
SNP
0.484
NDND-
BRAFp.V600E
Missense
SNP
0.529
2--
BRINP3p.K541T
Missense
SNP
0.452
2--
BTN1A1p.A56T
Missense
SNP
0.416
2--
C14orf37p.A151V
Missense
SNP
0.505
NDND-
C1GALT1C1p.H37P
Missense
SNP
0.516
NDND-
C1orf204p.A149T
Missense
SNP
0.467
NDND-
C1orf228p.A23T
Missense
SNP
0.458
NDND-
C2CD4Dp.P184L
Missense
SNP
0.507
2--
C2orf16p.L1534H
Missense
SNP
0.521
2--
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
CA4p.A13V
Missense
SNP
0.488
2--
CACNA1Ap.P2421V
Missense
DNP
0.429
2--
CACNA1Bp.S761L
Missense
SNP
0.440
2--
CALCRLp.R355*
Nonsense
SNP
0.437
2--
CAPNS1p.F164S
Missense
SNP
0.519
2--
CARNS1p.S528N
Missense
SNP
0.508
2--
CATIPp.F354L
Missense
SNP
0.518
2--
CBLN4p.T134P
Missense
SNP
0.420
2--
CCDC102Bp.D477Y
Missense
SNP
0.458
2--
CCDC13p.L415P
Missense
SNP
0.508
2--
CCDC65p.X394_splice
Splice_Site
SNP
0.536
2--
CCDC94p.E170K
Missense
SNP
0.481
NDND-
CCNJp.S267L
Missense
SNP
0.517
2--
CCNYL1p.N180D
Missense
SNP
0.466
2--
CCSER1p.L531R
Missense
SNP
0.500
2--
CD101p.D772A
Missense
SNP
0.398
2--
CD22p.E203*
Nonsense
SNP
0.394
2--
CD53p.R165Q
Missense
SNP
0.539
2--
CD58p.R152*
Nonsense
SNP
0.441
2--
CDC42BPGp.V304M
p.V205A
Missense
Missense
SNP
SNP
0.410
0.473
2--
CDH4p.W113C
Missense
SNP
0.472
2--
CDH5p.R621Q
Missense
SNP
0.361
2--
CDK4p.R210Q
Missense
SNP
0.447
2--
CDK5p.R200W
Missense
SNP
0.483
2--
CDK5R2p.G357R
Missense
SNP
0.475
2--
CECR6p.G159S
Missense
SNP
0.444
NDND-
CELF3p.X76_splice
Splice_Site
SNP
0.473
2--
CELSR1p.R2406*
p.R291H
Nonsense
Missense
SNP
SNP
0.530
0.598
2--
CEMIPp.G118D
Missense
SNP
0.491
2--
CENPIp.A29T
Missense
SNP
0.361
NDND-
CENPOp.V250I
Missense
SNP
0.507
2--
CEP295p.L482R
Missense
SNP
0.432
2--
CEP63p.W43R
Missense
SNP
0.464
2--
CES2p.G88D
Missense
SNP
0.521
2--
CFAP47p.D385G
Missense
SNP
0.243
NDND-
CFAP65p.S48R
Missense
SNP
0.518
2--
CFHp.G486E
Missense
DNP
0.439
2--
CFHR4p.D424N
Missense
SNP
0.545
2--
CHCHD2p.A37V
Missense
SNP
0.667
2--
CHCHD7p.S43L
Missense
SNP
0.409
2--
CHRNA4p.L619M
Missense
SNP
0.461
2--
CHST2p.D441N
Missense
SNP
0.436
2--
CHST7p.G415S
Missense
SNP
0.247
NDND-
CICp.R863C
Missense
SNP
0.378
2--
CKMT1Ap.R309H
Missense
SNP
0.516
2--
CLASP2p.R1236W
Missense
SNP
0.411
2--
CLASRPp.D81N
Missense
SNP
0.446
2--
CLEC16Ap.T848A
Missense
SNP
0.299
2--
CLHC1p.X272_splice
Splice_Site
SNP
0.653
2--
CLIP2p.M653V
Missense
SNP
0.511
2--
CLTAp.R213W
Missense
SNP
0.521
2--
CNN1p.D52G
Missense
SNP
0.505
2--
CNTN6p.G664S
Missense
SNP
0.457
2--
CNTNAP2-
-
-
-
3Gain-
COL15A1p.D639G
Missense
SNP
0.471
2--
COL5A1p.G607R
Missense
SNP
0.467
2--
COLQp.G231*
Nonsense
SNP
0.382
2--
CPp.P87S
Missense
SNP
0.453
2--
CPSF4Lp.R73Q
Missense
SNP
0.429
2--
CPXM1p.V356M
Missense
SNP
0.476
2--
CRATp.K426E
Missense
SNP
0.566
2--
CRB1p.K553T
Missense
SNP
0.490
2--
CRIPAKp.H442N
Missense
SNP
0.384
NDND-
CRTAC1p.H556R
Missense
SNP
0.480
2--
CSp.K382R
Missense
SNP
0.488
2--
CSMD1p.I1814F
Missense
SNP
0.420
2--
CSMD3-
-
-
-
3Gain-
CSNK2A1p.Y125C
Missense
SNP
0.471
2--
CSTBp.Y97*
Nonsense
SNP
0.503
2--
CTAGE1p.R556S
Missense
SNP
0.394
2--
CTC-260F20.3p.A106V
Missense
SNP
0.567
NDND-
CTPS1p.G558D
Missense
SNP
0.447
2--
CUBNp.N2576D
Missense
SNP
0.523
2--
CWC22p.E426K
Missense
SNP
0.364
2--
CYP21A2-
-
-
-
1Loss-
CYP26C1p.A164V
Missense
SNP
0.457
2--
DACH1-
-
-
-
3Gain-
DACT3p.P495H
Missense
SNP
0.384
2--
DCCp.P234T
Missense
SNP
0.434
2--
DCHS2p.A309D
Missense
SNP
0.387
2--
DCST2p.M314L
Missense
SNP
0.414
2--
DDNp.Q29*
Nonsense
SNP
0.415
2--
DDX11p.K209N
Missense
SNP
0.483
2--
DEPDC1Bp.Y156C
Missense
SNP
0.463
2--
DGKAp.P454S
Missense
SNP
0.521
2--
DHHp.G304S
Missense
SNP
0.535
2--
DHX37p.R1097G
Missense
SNP
0.541
2--
DISP1p.S957L
Missense
SNP
0.549
2--
DMRTA2p.R105C
Missense
SNP
0.444
2--
DNAH1p.H3607L
Missense
SNP
0.493
2--
DNAH10p.Q3307H
Missense
SNP
0.541
2--
DNAH11p.L1636F
Missense
SNP
0.536
2--
DNAH3p.F2236V
Missense
SNP
0.496
2--
DNAJC6p.R806*
Nonsense
SNP
0.425
2--
DNM1p.L452I
Missense
SNP
0.394
2--
DNMT1p.V1284A
Missense
SNP
0.414
2--
DOC2Bp.A60T
Missense
SNP
0.585
2--
DOCK3p.E901D
p.H1605R
Missense
Missense
SNP
SNP
0.452
0.421
2--
DPCR1p.A1237T
Missense
SNP
0.452
NDND-
DPM1p.P125S
Missense
SNP
0.360
2--
DPTp.S47G
Missense
SNP
0.491
2--
DPY19L2p.R147H
Missense
SNP
0.399
2--
DRD3p.P247L
Missense
SNP
0.495
2--
DRD4p.A234V
Missense
SNP
0.549
2--
DSEp.K834E
Missense
SNP
0.494
2--
DSPPp.S293G
Missense
SNP
0.527
2--
DSTYKp.G30V
Missense
SNP
0.398
2--
DTD1p.V133A
Missense
SNP
0.443
2--
DUSP16p.L442I
Missense
SNP
0.515
2--
ECT2p.X749_splice
Splice_Site
SNP
0.428
2--
EDRF1p.R953*
Nonsense
SNP
0.350
2--
EFNA1p.L197F
Missense
SNP
0.502
2--
EGFL6p.A48V
Missense
SNP
0.292
NDND-
EHBP1p.V29A
Missense
SNP
0.531
2--
EIF3Gp.S217R
Missense
SNP
0.537
2--
EIF4G1p.R901C
Missense
SNP
0.420
2--
EOMESp.R602S
Missense
SNP
0.509
2--
EPB41p.T798S
Missense
SNP
0.452
2--
EPB41L1p.A143E
Missense
SNP
0.466
2--
EPHA5p.Q511H
Missense
SNP
0.457
2--
EPHA7p.R811W
Missense
SNP
0.502
2--
EPS8L1p.R290C
Missense
SNP
0.466
2--
EVCp.A756T
Missense
SNP
0.590
2--
EYSp.R164Q
Missense
SNP
0.437
2--
F10p.A474T
Missense
SNP
0.464
2--
FAM161Ap.E477K
Missense
SNP
0.448
2--
FAM179Bp.R722W
Missense
SNP
0.520
NDND-
FAM184Ap.P1109S
Missense
SNP
0.547
2--
FAM193Ap.E838*
Nonsense
SNP
0.522
2--
FAM199Xp.D45N
Missense
SNP
0.283
NDND-
FAM213Ap.V212I
Missense
SNP
0.577
NDND-
FAM9Bp.G25*
Nonsense
SNP
0.311
NDND-
FAT4p.A4625T
Missense
SNP
0.500
2--
FBLL1p.V84G
p.A229V
Missense
Missense
SNP
SNP
0.545
0.482
2--
FBN2p.A1032S
Missense
SNP
0.470
2--
FBN3p.R2688*
Nonsense
SNP
0.490
2--
FBXL19p.P191T
Missense
SNP
0.519
2--
FBXL8p.L354M
Missense
SNP
0.433
2--
FBXO40p.H565R
Missense
SNP
0.367
2--
FBXW10p.P223T
Missense
SNP
0.430
2--
FCHSD1p.S630I
Missense
SNP
0.457
2--
FDPSp.D317G
Missense
SNP
0.479
2--
FEVp.A165P
Missense
SNP
0.500
2--
FHDC1p.H593R
Missense
SNP
0.417
2--
FIBCD1p.F449C
Missense
SNP
0.470
2--
FKBP8p.S130L
Missense
SNP
0.393
2--
FLNBp.T1076M
Missense
SNP
0.495
2--
FLRT2p.S173N
Missense
SNP
0.481
3Gain-
FMNL2p.F14I
Missense
SNP
0.483
2--
FOXC1p.F167I
Missense
SNP
0.351
2--
FOXE3p.D110N
Missense
SNP
0.531
2--
FOXG1-
-
-
-
3Gain-
FOXK1p.V676A
Missense
SNP
0.419
2--
FRMPD3p.R1386H
Missense
SNP
0.637
NDND-
FSIP2p.X343_splice
Splice_Site
SNP
0.404
2--
FUT9p.M50T
Missense
SNP
0.538
2--
FZD7p.Y179C
Missense
SNP
0.447
2--
GABPB2p.D304V
Missense
SNP
0.333
2--
GAL3ST4p.A368V
Missense
SNP
0.414
2--
GALNT14p.V540I
Missense
SNP
0.429
2--
GAR1p.G61D
Missense
SNP
0.509
2--
GATAD2Bp.R310H
Missense
SNP
0.479
2--
GCC1p.R558Q
Missense
SNP
0.472
2--
GCGRp.X91_splice
Splice_Site
SNP
0.473
2--
GDF6p.R62W
Missense
SNP
0.529
2--
GET4p.F203L
Missense
SNP
0.432
2--
GFPT1p.P109T
Missense
SNP
0.492
2--
GINS4p.K200M
Missense
SNP
0.419
2--
GLRX3p.N134D
Missense
SNP
0.622
2--
GLTSCR1p.N1324I
Missense
SNP
0.523
NDND-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPM6Ap.A223T
Missense
SNP
0.442
2--
GPR37L1p.Q306K
Missense
SNP
0.492
2--
GREB1Lp.A971V
Missense
SNP
0.470
2--
GRIA3p.Q619*
Nonsense
SNP
0.380
NDND-
GRIP1p.R905C
Missense
SNP
0.429
2--
GRM1p.S1163R
Missense
SNP
0.482
2--
GSE1p.R361C
Missense
SNP
0.500
2--
GSG2p.H746R
Missense
SNP
0.468
NDND-
GTF3C1p.R1514Q
Missense
SNP
0.389
2--
GTSF1p.A55V
Missense
SNP
0.447
2--
GUCY1A2p.E679K
Missense
SNP
0.503
2--
HBQ1p.L49M
Missense
SNP
0.460
2--
HCN1p.R590Q
Missense
SNP
0.511
2--
HEATR4p.Y344*
Nonsense
SNP
0.361
2--
HECTD4p.L3686P
p.K1147N
Missense
Missense
SNP
SNP
0.528
0.507
2--
HECW1p.A775S
Missense
SNP
0.484
2--
HECW2p.R1119Q
p.A422V
Missense
Missense
SNP
SNP
0.478
0.397
2--
HMCN2p.P3867H
Missense
SNP
0.515
2--
HRp.S930P
Missense
SNP
0.430
2--
HSH2Dp.A282T
Missense
SNP
0.511
2--
HSPA1Lp.D595N
Missense
SNP
0.430
2--
HUNKp.D494N
Missense
SNP
0.506
2--
IARSp.F339S
Missense
SNP
0.561
2--
IBTKp.I526V
Missense
SNP
0.509
2--
ICAM4p.R26C
Missense
SNP
0.441
2--
IDI1p.T141M
Missense
SNP
0.515
2--
IFIT1p.Q410H
Missense
SNP
0.410
2--
IFT74p.F191L
Missense
SNP
0.370
2--
IGF2Rp.Y2115C
Missense
SNP
0.525
2--
IGSF9Bp.A804T
Missense
SNP
0.475
2--
IL18RAPp.T401M
Missense
SNP
0.511
2--
IL2RGp.Y189H
Missense
SNP
0.272
NDND-
INHBAp.K163E
Missense
SNP
0.490
2--
IRAK2p.S172L
Missense
SNP
0.491
2--
IRF9p.R13W
Missense
SNP
0.414
2--
IRX1p.G121D
Missense
SNP
0.448
2--
ITGA4p.G31S
Missense
SNP
0.466
2--
ITGA9p.L645M
Missense
SNP
0.421
3Gain-
ITGADp.D529G
Missense
SNP
0.496
2--
IZUMO4p.T221P
Missense
SNP
0.414
2--
JMYp.Y443H
Missense
SNP
0.574
2--
KALRNp.R1137C
Missense
SNP
0.415
2--
KANSL1Lp.E474K
Missense
SNP
0.465
2--
KAZNp.T416M
Missense
SNP
0.320
2--
KCNA4p.C586F
Missense
SNP
0.474
2--
KCNG3p.A86V
Missense
SNP
0.393
2--
KCNMA1p.D1107N
Missense
SNP
0.375
2--
KCNS2p.V230M
Missense
SNP
0.523
2--
KCNV1-
-
-
-
3Gain-
KCTD8p.G160D
Missense
SNP
0.462
2--
KDF1p.R146W
Missense
SNP
0.523
2--
KIAA0319p.R791*
Nonsense
SNP
0.487
2--
KIAA0895Lp.P164T
Missense
SNP
0.407
2--
KIAA1217p.S930L
Missense
SNP
0.515
2--
KIF13Bp.E944K
Missense
SNP
0.503
2--
KIF3Cp.S216C
Missense
SNP
0.521
2--
KIF5Bp.A461V
Missense
SNP
0.468
2--
KLC3p.E50D
Missense
SNP
0.408
2--
KLHL1-
-
-
-
3Gain-
KLHL34p.S584L
p.T260M
Missense
Missense
SNP
SNP
0.327
0.331
NDND-
KLK14p.A60V
Missense
SNP
0.537
2--
KMT2Bp.D1349E
Missense
SNP
0.408
2--
KMT2Dp.Q1302R
Missense
SNP
0.476
2--
KPNA5p.A103T
Missense
SNP
0.464
2--
KREMEN2p.T374M
Missense
SNP
0.505
2--
KRT12p.M129I
Missense
SNP
0.513
2--
KRTAP19-1p.G61C
Missense
SNP
0.442
2--
KRTAP4-11p.M93V
Missense
SNP
0.213
2--
LAMB3p.C584*
Nonsense
SNP
0.503
2--
LARS2p.E294K
Missense
SNP
0.382
2--
LCE5Ap.S61I
Missense
SNP
0.440
2--
LDOC1p.P47L
p.A18T
Missense
Missense
SNP
SNP
0.321
0.345
NDND-
LHPPp.E177V
Missense
SNP
0.460
2--
LIN28Ap.R132Q
Missense
DNP
0.403
2--
LOXHD1p.K82E
Missense
SNP
0.470
2--
LOXL2p.R338C
Missense
SNP
0.491
2--
LOXL4p.R427C
Missense
SNP
0.519
2--
LRCH4p.V663I
Missense
SNP
0.473
2--
LRP1Bp.D875N
Missense
SNP
0.478
2--
LRP2p.D297Y
Missense
SNP
0.477
2--
LRRC75Bp.L215P
Missense
SNP
0.539
2--
LRRIQ3p.T128A
Missense
SNP
0.464
2--
LRRK1p.V1320A
Missense
SNP
0.429
2--
LY6G5Bp.T27M
Missense
SNP
0.467
2--
LZICp.L138I
Missense
SNP
0.548
2--
MAD1L1p.L113I
Missense
SNP
0.436
2--
MADCAM1p.R188H
Missense
SNP
0.495
2--
MAFAp.E251D
Missense
SNP
0.439
2--
MAGEB6P1p.A365S
Missense
SNP
0.297
NDND-
MAGEC1p.D91N
p.S713R
Missense
Missense
SNP
SNP
0.336
0.288
NDND-
MAP10p.E397K
Missense
SNP
0.496
2--
MAP3K1p.V569I
Missense
SNP
0.531
2--
MAP3K12p.G229C
Missense
SNP
0.476
2--
MAPKBP1p.X725_splice
Splice_Site
SNP
0.463
2--
MAST2p.R1202P
Missense
SNP
0.468
2--
MAST4p.T1769M
Missense
SNP
0.461
2--
MBD1p.N554S
Missense
SNP
0.390
2--
MCIDASp.A252V
Missense
SNP
0.513
2--
MCRS1p.E183V
Missense
SNP
0.382
2--
MED13p.X2098_splice
Splice_Site
SNP
0.528
2--
MEGF8p.S1358P
Missense
SNP
0.503
2--
MEI1p.A1074V
Missense
SNP
0.431
2--
MELTFp.A383V
Missense
SNP
0.437
2--
METTL11Bp.V134I
Missense
SNP
0.394
2--
METTL13p.S99G
Missense
SNP
0.514
2--
METTL25p.R232S
Missense
SNP
0.495
2--
MEX3Bp.P211S
Missense
SNP
0.459
2--
MGAT5p.C145R
Missense
SNP
0.337
2--
MLXIPLp.E30Q
Missense
SNP
0.443
2--
MMP28p.A206V
Missense
SNP
0.525
2--
MMS22Lp.H1047Y
Missense
SNP
0.483
2--
MOB4p.A102T
Missense
SNP
0.565
2--
MORC4p.D88N
Missense
SNP
0.349
NDND-
MORN3p.M151T
Missense
SNP
0.537
2--
MPLp.G343E
Missense
SNP
0.409
2--
MPOp.E282K
Missense
SNP
0.462
2--
MPZL2p.H80R
Missense
SNP
0.457
2--
MRM3p.A259T
Missense
SNP
0.481
2--
MROH2Ap.Q997K
Missense
SNP
0.500
2--
MTF2p.G486*
Nonsense
SNP
0.471
2--
MXRA5p.Q486R
Missense
SNP
0.344
NDND-
MYO15Bp.A1123V
Missense
SNP
0.449
2--
MYO1Gp.Q420L
Missense
SNP
0.573
2--
MYOZ1p.A157V
Missense
SNP
0.500
2--
MZT2Ap.Q155H
Missense
SNP
0.373
2--
NALCNp.R297H
Missense
SNP
0.385
2--
NAP1L6p.E104V
Missense
SNP
0.324
NDND-
NAT8p.P50A
Missense
SNP
0.431
2--
NCBP2p.R91C
Missense
SNP
0.513
2--
NCOR1p.A317S
Missense
SNP
0.487
2--
NEBp.R8481*
Nonsense
SNP
0.444
2--
NEFMp.R204H
Missense
SNP
0.465
2--
NEIL2p.Q284*
Nonsense
SNP
0.520
2--
NFATC2p.T487S
Missense
SNP
0.422
2--
NHSp.R137W
Missense
SNP
0.353
NDND-
NID1p.C414R
Missense
SNP
0.430
2--
NINJ2p.A23T
Missense
SNP
0.422
2--
NIPBLp.R834*
p.M2398T
Nonsense
Missense
SNP
SNP
0.441
0.423
2--
NKIRAS2p.G45S
Missense
SNP
0.446
2--
NKX2-3p.A294V
Missense
SNP
0.536
2--
NKX2-6p.V137M
Missense
SNP
0.366
2--
NLE1p.P41Q
Missense
SNP
0.515
2--
NLGN3p.M457V
Missense
SNP
0.365
NDND-
NLRC5p.L28P
p.A728T
p.D1782V
Missense
Missense
Missense
SNP
SNP
SNP
0.473
0.439
0.347
2--
NLRP4p.Q533K
Missense
SNP
0.458
2--
NOGp.R182C
Missense
SNP
0.510
2--
NOL4p.L585M
Missense
SNP
0.483
2--
NOP2p.P101H
Missense
SNP
0.104
2--
NOP56p.P506H
Missense
SNP
0.489
2--
NOTCH4p.T1083A
Missense
SNP
0.348
2--
NPAS4p.V167M
Missense
SNP
0.452
2--
NR1H3p.R160L
Missense
SNP
0.514
2--
NRXN1p.M1492V
Missense
SNP
0.476
2--
NSUN2p.P504H
Missense
SNP
0.497
2--
NSUN6p.G328E
Missense
SNP
0.456
2--
NUDT11p.R40W
Missense
SNP
0.316
NDND-
NUP210p.R1871H
Missense
SNP
0.441
2--
OBSCNp.V5179M
p.R6883H
p.G8883D
Missense
Missense
Missense
SNP
SNP
SNP
0.439
0.499
0.465
2--
OR1M1p.L82R
Missense
SNP
0.531
2--
OR2B11p.L75I
Missense
SNP
0.394
2--
OR51F1p.Y261H
Missense
SNP
0.454
2--
OR51I2p.R234C
Missense
SNP
0.471
2--
OR52E8p.H111R
Missense
SNP
0.468
2--
OR5L1p.D89V
Missense
SNP
0.544
2--
OSGIN1p.R80L
Missense
SNP
0.457
2--
OTUB1p.R36*
Nonsense
SNP
0.500
2--
OTUD7Ap.R672Q
Missense
SNP
0.488
2--
OVOS2p.Y1125H
Missense
SNP
0.419
NDND-
P3H2p.S550T
Missense
SNP
0.435
2--
PABPC4L-
-
-
-
3Gain-
PAGE1p.E133D
Missense
SNP
0.302
NDND-
PANX2p.R427C
Missense
SNP
0.548
2--
PAPD5p.A107T
Missense
SNP
0.506
NDND-
PAX6p.L336I
Missense
SNP
0.506
2--
PCDH10p.R970H
Missense
SNP
0.500
3Gain-
PCDH17-
-
-
-
3Gain-
PCDH18-
-
-
-
3Gain-
PCDH7p.R197C
Missense
SNP
0.484
2--
PCDH9-
-
-
-
3Gain-
PCDHA10p.S679L
Missense
SNP
0.431
2--
PCDHA7p.V740E
Missense
SNP
0.495
2--
PCDHB2p.A469T
Missense
SNP
0.364
2--
PCDHGA11p.A697V
Missense
SNP
0.507
2--
PCDHGA2p.R32H
Missense
SNP
0.503
2--
PCSK1p.R669Q
Missense
SNP
0.507
2--
PDZD4p.L373M
Missense
SNP
0.279
NDND-
PDZD8p.R772C
Missense
SNP
0.517
2--
PDZRN4p.Q177P
Missense
SNP
0.493
2--
PEG3p.D560V
p.D142N
Missense
Missense
SNP
SNP
0.426
0.471
2--
PELP1p.L416R
Missense
SNP
0.423
2--
PHACTR2p.E68*
Nonsense
SNP
0.361
2--
PHF3p.R142Q
Missense
SNP
0.337
2--
PHF8p.A946T
p.R676W
Missense
Missense
SNP
SNP
0.349
0.313
NDND-
PHIPp.V732A
Missense
SNP
0.495
2--
PHKA2p.X1113_splice
Splice_Site
SNP
0.375
NDND-
PIEZO1p.W1403*
Nonsense
SNP
0.431
2--
PIGGp.R465G
Missense
SNP
0.552
2--
PIGZp.T542I
Missense
SNP
0.380
2--
PITX1p.L104P
Missense
SNP
0.486
2--
PJA1p.T50M
Missense
SNP
0.339
NDND-
PKHD1p.R3482H
Missense
SNP
0.514
2--
PLCL2p.L172P
Missense
SNP
0.429
2--
PLOD1p.R430H
Missense
SNP
0.532
2--
PLXNB3p.A188V
Missense
SNP
0.199
NDND-
PMLp.C754Y
Missense
SNP
0.425
2--
PMP22p.L62M
Missense
SNP
0.436
2--
PNPLA7p.R60G
Missense
SNP
0.412
2--
POC1Ap.V169A
Missense
SNP
0.438
2--
POLD2p.S479I
Missense
SNP
0.531
2--
POLEp.A186T
Missense
SNP
0.578
2--
POLR1Bp.R1080W
Missense
SNP
0.487
2--
POLR2Ap.X919_splice
Splice_Site
SNP
0.574
2--
POM121L12-
-
-
-
3Gain-
POTECp.L57F
Missense
SNP
0.498
2--
POTEEp.T860S
Missense
SNP
0.406
NDND-
POU5F1Bp.P14H
Missense
SNP
0.486
2--
PPARGC1Bp.A397V
Missense
SNP
0.362
2--
PPFIA3p.R539Q
Missense
SNP
0.437
2--
PRDM10p.T1144I
Missense
SNP
0.488
2--
PRDM13p.A369V
Missense
SNP
0.472
2--
PRDM16p.A1063T
Missense
SNP
0.471
2--
PREX2p.A1036V
Missense
SNP
0.385
2--
PRKCHp.A299V
Missense
SNP
0.431
2--
PRKDCp.V323A
Missense
SNP
0.471
2--
PRPF8p.X1874_splice
p.E534*
Splice_Site
Nonsense
SNP
SNP
0.452
0.500
2--
PRRC2Bp.R262*
Nonsense
SNP
0.468
2--
PSMA3p.D252G
Missense
SNP
0.429
2--
PTCHD4p.R744Q
Missense
SNP
0.516
2--
PTENp.G251V
Missense
SNP
0.460
2--
PTGFRp.C256Y
Missense
SNP
0.359
2--
PTH2p.P38R
Missense
SNP
0.543
2--
PTPROp.V233I
Missense
SNP
0.600
2--
PTPRUp.P698H
Missense
SNP
0.538
2--
PTTG1IPp.E133G
Missense
SNP
0.487
2--
PZPp.N1044K
Missense
SNP
0.456
2--
RAP1GAPp.A540T
Missense
SNP
0.580
2--
RBFOX3p.I309V
Missense
SNP
0.453
2--
RBM5p.G447D
Missense
SNP
0.472
2--
RELAp.Y349C
Missense
SNP
0.409
2--
RELNp.K329*
Nonsense
SNP
0.416
2--
RFX7p.Q820R
Missense
SNP
0.441
2--
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RHOp.Y10C
Missense
SNP
0.500
2--
RIMBP2p.Y212S
Missense
SNP
0.414
2--
RIOK1p.G88*
Nonsense
SNP
0.487
2--
RIOK2p.E280K
Missense
SNP
0.556
2--
RNF123p.A477V
Missense
SNP
0.427
2--
RNF17p.H686R
Missense
SNP
0.508
2--
RNF175p.V114I
Missense
SNP
0.482
2--
RPAP2p.R504L
Missense
SNP
0.436
2--
RSF1p.R970C
Missense
SNP
0.484
2--
RTFDC1p.V211M
Missense
SNP
0.405
NDND-
RWDD3p.G253V
Missense
SNP
0.542
2--
RYR3p.R4043H
Missense
SNP
0.452
2--
S1PR5p.R111W
Missense
SNP
0.480
2--
SAFBp.R718W
Missense
SNP
0.368
2--
SAMD7p.N163K
Missense
SNP
0.509
2--
SAP130p.C986L
Missense
DNP
0.483
2--
SAV1p.R242*
Nonsense
SNP
0.372
2--
SBK1p.T248A
Missense
SNP
0.342
2--
SBK2p.R327H
Missense
SNP
0.481
2--
SCAPERp.R590*
Nonsense
SNP
0.470
2--
SCARA5p.A304T
Missense
SNP
0.412
2--
SCN7Ap.S530M
Missense
DNP
0.429
2--
SCUBE3p.L477R
Missense
SNP
0.410
2--
SEMA6Ap.Y472C
Missense
SNP
0.436
2--
SEMA7Ap.R261H
Missense
SNP
0.417
2--
SENP7p.K582N
Missense
SNP
0.514
2--
SH2D4Ap.R247C
Missense
SNP
0.540
2--
SH3GL1p.A125V
Missense
SNP
0.473
2--
SH3TC2p.R641H
Missense
SNP
0.412
2--
SHANK1p.V1207M
Missense
SNP
0.440
2--
SIM1p.X248_splice
Splice_Site
SNP
0.384
2--
SIMC1p.R458H
Missense
SNP
0.459
2--
SIPA1L2p.E1180K
Missense
SNP
0.379
2--
SIRT1p.R384*
Nonsense
SNP
0.367
2--
SIRT2p.R381G
Missense
SNP
0.370
2--
SLC22A18p.R89W
Missense
SNP
0.567
2--
SLC26A4p.L117F
Missense
SNP
0.507
2--
SLC27A6p.Q544*
Nonsense
SNP
0.436
2--
SLC2A8p.R215C
Missense
SNP
0.587
2--
SLC34A2p.C622R
Missense
SNP
0.438
2--
SLC35A5p.A375T
Missense
SNP
0.450
2--
SLC38A3p.L178P
Missense
SNP
0.485
2--
SLC3A1p.G376S
Missense
SNP
0.534
2--
SLC4A10p.R63*
Nonsense
SNP
0.457
2--
SLC5A11p.A383V
Missense
SNP
0.488
2--
SLC5A5p.F247L
Missense
SNP
0.325
2--
SLC6A5p.S168Y
Missense
SNP
0.432
2--
SLC6A6p.R278C
Missense
SNP
0.459
2--
SLC7A11-
-
-
-
3Gain-
SLC7A4p.N593K
p.G187*
p.R135H
Missense
Nonsense
Missense
SNP
SNP
SNP
0.450
0.447
0.465
2--
SLC7A8p.W182*
Nonsense
SNP
0.412
2--
SLC8A3p.K601R
Missense
SNP
0.517
2--
SLITRK1p.L184I
Missense
SNP
0.470
3Gain-
SLITRK5p.D161N
Missense
SNP
0.533
3Gain-
SLITRK6-
-
-
-
3Gain-
SMAD3p.H85R
Missense
SNP
0.458
2--
SMC3p.R186W
Missense
SNP
0.470
2--
SMCO2p.P331S
Missense
SNP
0.407
2--
SNTB1p.R241W
Missense
SNP
0.490
2--
SNX13p.Q160H
Missense
SNP
0.519
2--
SOCS5p.R263M
Missense
SNP
0.383
2--
SONp.V1558I
Missense
SNP
0.468
2--
SOX3p.I26M
Missense
SNP
0.320
NDND-
SP140p.G549W
Missense
SNP
0.422
2--
SPG11p.S464P
Missense
SNP
0.409
2--
SPTBN4p.A1686V
Missense
SNP
0.498
2--
SRCAPp.Q3205R
Missense
SNP
0.279
2--
SRPK3p.E501A
Missense
SNP
0.310
NDND-
SRRM4p.R209W
Missense
SNP
0.462
2--
SS18p.I16N
Missense
SNP
0.562
2--
SSH2p.A1410T
Missense
SNP
0.483
2--
STARD8p.G1050S
Missense
SNP
0.320
NDND-
STAT4p.I105V
Missense
SNP
0.450
2--
STK10p.R817C
Missense
SNP
0.507
2--
STK19-
-
-
-
1Loss-
STRN4p.D519Y
p.D419N
Missense
Missense
SNP
SNP
0.514
0.432
2--
SURF6p.E286K
Missense
SNP
0.514
2--
TAGAPp.R412H
Missense
SNP
0.486
2--
TBC1D1p.Q238R
Missense
SNP
0.533
2--
TBC1D22Bp.A487V
Missense
SNP
0.457
2--
TBR1p.S164F
Missense
SNP
0.523
2--
TBXA2Rp.R53W
Missense
SNP
0.550
2--
TCF25p.W675G
Missense
SNP
0.481
2--
TDO2p.E24K
Missense
SNP
0.416
2--
TEX13Cp.M421I
Missense
SNP
0.320
NDND-
TFAP2Bp.S45L
Missense
SNP
0.431
2--
TFEBp.R329C
Missense
SNP
0.506
2--
TJP2p.E329K
Missense
SNP
0.535
2--
TLE4p.S629I
Missense
SNP
0.472
2--
TMEM101p.S20L
Missense
SNP
0.468
2--
TMEM102p.D59E
Missense
SNP
0.509
2--
TMEM131p.A449V
Missense
SNP
0.538
2--
TMEM143p.L249P
Missense
SNP
0.416
2--
TMEM184Ap.L50I
Missense
SNP
0.450
2--
TMEM255Bp.S25L
Missense
SNP
0.440
2--
TMIGD2p.L156P
Missense
SNP
0.552
2--
TMX3p.K194N
Missense
SNP
0.464
2--
TNFAIP6p.A42T
Missense
SNP
0.442
2--
TNKSp.R1161W
Missense
SNP
0.437
2--
TNPO2p.M740I
p.V451I
Missense
Missense
SNP
SNP
0.428
0.475
2--
TNRC18p.R451C
Missense
SNP
0.574
2--
TNRC6Bp.Q1307E
Missense
SNP
0.439
2--
TNS2p.R37K
Missense
SNP
0.495
2--
TNS3p.G934C
Missense
SNP
0.473
2--
TNXB-
-
-
-
1Loss-
TRAF7p.R71W
Missense
SNP
0.507
2--
TRAV8-7p.E81D
Missense
SNP
0.437
NDND-
TRIM10p.V383M
Missense
SNP
0.445
2--
TRIM50p.D431N
Missense
SNP
0.479
2--
TRPC5p.R512C
Missense
SNP
0.312
NDND-
TRPM3p.T1290M
Missense
SNP
0.518
2--
TRPM5p.L877P
Missense
SNP
0.472
2--
TRPV4p.E444D
Missense
SNP
0.477
2--
TTC27p.L376R
Missense
SNP
0.502
2--
TTC28p.V1585M
Missense
SNP
0.476
2--
TTC6p.R64C
Missense
SNP
0.471
2--
TTLL10p.M239V
Missense
SNP
0.549
2--
TTNp.G30849V
p.R1981K
Missense
Missense
SNP
SNP
0.491
0.518
2--
TUBA3Cp.A385T
Missense
SNP
0.490
2--
TUBA3Dp.G17S
Missense
SNP
0.475
2--
TUBB4Ap.T386M
p.L130I
Missense
Missense
SNP
SNP
0.492
0.460
2--
TYRP1p.G10C
Missense
SNP
0.485
2--
U2AF1L4p.R174M
Missense
SNP
0.571
2--
UEVLDp.X165_splice
Splice_Site
SNP
0.436
2--
UGT1A1-
-
-
-
1Loss-
UGT1A10-
-
-
-
1Loss-
UGT1A3-
-
-
-
1Loss-
UGT1A4-
-
-
-
1Loss-
UGT1A5-
-
-
-
1Loss-
UGT1A6-
-
-
-
1Loss-
UGT1A7-
-
-
-
1Loss-
UGT1A8p.S141C
Missense
SNP
0.554
1Loss-
UGT1A9-
-
-
-
1Loss-
UGT2A1-
-
-
-
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4p.G341V
Missense
SNP
0.324
1Loss-
UNC13Cp.Q1420R
Missense
SNP
0.470
2--
URB2p.A1028T
Missense
SNP
0.486
2--
USP19p.V498A
Missense
SNP
0.492
2--
USP27Xp.G186R
Missense
SNP
0.677
NDND-
USP32p.T734A
Missense
SNP
0.494
2--
USP9Xp.A1875V
Missense
SNP
0.305
NDND-
VCAM1p.T79M
Missense
SNP
0.495
2--
VCPIP1p.V221L
Missense
SNP
0.541
2--
VPS13Dp.R3316H
Missense
SNP
0.443
2--
VSIG10p.S87F
Missense
SNP
0.469
2--
VSTM2Lp.G23S
Missense
SNP
0.532
2--
VWA2p.G412D
Missense
SNP
0.523
2--
WASp.G465*
Nonsense
SNP
0.341
NDND-
WDFY4p.R94S
Missense
SNP
0.479
2--
WDR45p.R233H
Missense
SNP
0.288
NDND-
WDR49p.R647H
Missense
SNP
0.452
2--
WDR7p.T1180M
Missense
SNP
0.434
2--
WNK3p.K1437Q
Missense
SNP
0.244
NDND-
WNT5Ap.V147M
Missense
SNP
0.397
2--
XPNPEP2p.E639K
Missense
SNP
0.317
NDND-
ZBTB20p.E728K
Missense
SNP
0.481
2--
ZBTB33.
Splice_Site
SNP
0.341
NDND-
ZDHHC20p.F245V
Missense
SNP
0.419
2--
ZFHX4p.E2641K
p.V2648A
Missense
Missense
SNP
SNP
0.440
0.464
2--
ZMYND8p.C122Y
Missense
SNP
0.485
2--
ZNF185p.A116T
Missense
SNP
0.300
NDND-
ZNF467p.A447V
Missense
SNP
0.417
2--
ZNF469p.N617S
p.T2559I
Missense
Missense
SNP
SNP
0.452
0.424
2--
ZNF518Ap.E95G
Missense
SNP
0.457
2--
ZNF585Bp.G714E
Missense
SNP
0.548
2--
ZNF665p.A69V
Missense
SNP
0.331
2--
ZNF711p.Q127H
Missense
SNP
0.703
NDND-
ZNF746p.T131M
Missense
SNP
0.447
2--
ZNF804Ap.R770Q
Missense
SNP
0.452
2--
ZNRF3p.G96D
Missense
SNP
0.583
2--
ZSCAN12p.T79I
Missense
SNP
0.474
2--
ZWINT-
-
-
-
3Gain-