PDMR-361931~004-R~QV3HV7JQ1-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
4GainND
A2ML1-
-
-
-
4GainND
ABATp.A111V
Missense
SNP
0.102
2-ND
ABCA13p.A4850T
Missense
SNP
0.466
2-ND
ABCC12p.A616T
Missense
SNP
0.512
2-ND
ABCC9-
-
-
-
4GainND
ABCG1p.R533H
Missense
SNP
0.477
2-ND
ABI3p.A82T
Missense
SNP
0.390
2-ND
AC005832.4-
-
-
-
4GainND
AC005833.1-
-
-
-
4GainND
AC006064.6-
-
-
-
4GainND
AC006518.7-
-
-
-
4GainND
AC008012.1-
-
-
-
4GainND
AC010197.2-
-
-
-
4GainND
AC011604.2-
-
-
-
4GainND
AC022335.1-
-
-
-
4GainND
AC068775.1-
-
-
-
4GainND
AC092111.3-
-
-
-
4GainND
ACAA1p.R102Q
Missense
SNP
0.448
2-ND
ACACBp.V1006I
Missense
SNP
0.457
2-ND
ACEp.I462Lfs*63
Frame_Shift_Del
DEL
0.308
2-ND
ACRBPp.H321N
Missense
SNP
0.308
4GainND
ACSM4-
-
-
-
4GainND
ACTL8p.V157M
Missense
SNP
0.519
2-ND
ACTL9p.D136N
Missense
SNP
0.474
2-ND
ACTR6p.E186K
Missense
SNP
0.370
2-ND
ADAD2p.R204H
Missense
SNP
0.464
2-ND
ADAMTS16p.T746M
Missense
SNP
0.544
2-ND
ADAMTS5p.E49Rfs*117
p.R170C
Frame_Shift_Del
Missense
DEL
SNP
0.295
0.473
2-ND
ADAMTSL2p.A448T
Missense
SNP
0.296
2-ND
ADCK3p.R187H
Missense
SNP
0.474
NDNDND
ADD3p.K701Rfs*8
Frame_Shift_Del
DEL
0.434
2-ND
ADGBp.T73Qfs*23
Frame_Shift_Del
DEL
0.483
2-ND
ADIPOR2-
-
-
-
4GainND
AEBP2-
-
-
-
4GainND
AICDA-
-
-
-
4GainND
AKAP3-
-
-
-
4GainND
AKAP9p.K39Rfs*17
Frame_Shift_Del
DEL
0.552
2-ND
AKR1B15p.W108*
Nonsense
SNP
0.534
2-ND
ALG10-
-
-
-
4GainND
ALS2p.G90V
Missense
SNP
0.466
2-ND
AMN1-
-
-
-
4GainND
ANK1p.A461V
Missense
SNP
0.492
2-ND
ANKRD16p.T338M
Missense
SNP
0.172
2-ND
ANO2-
-
-
-
4GainND
APCp.I638Yfs*8
p.T1556Nfs*3
p.A928T
Frame_Shift_Del
Frame_Shift_Ins
Missense
DEL
INS
SNP
0.267
0.289
0.483
2-ND
APOBEC1-
-
-
-
4GainND
APOLD1-
-
-
-
4GainND
ARHGAP36p.R439C
Missense
SNP
0.509
NDNDND
ARHGDIB-
-
-
-
4GainND
ARHGEF15p.R456Vfs*21
Frame_Shift_Del
DEL
0.460
2-ND
ARID2p.L446S
Missense
SNP
0.488
2-ND
ARL14EPp.N89Ifs*4
Frame_Shift_Del
DEL
0.518
2-ND
ARNTL2-
-
-
-
4GainND
ART4-
-
-
-
4GainND
ASPGp.R182W
Missense
SNP
0.491
2-ND
ASXL3p.R989Q
Missense
SNP
0.490
2-ND
ATF7IP-
-
-
-
4GainND
ATN1-
-
-
-
4GainND
ATP10Ap.V802M
Missense
SNP
0.528
2-ND
ATP2B2p.A543T
p.A318V
Missense
Missense
SNP
SNP
0.376
0.571
2-ND
AXIN2p.T437M
Missense
SNP
0.574
2-ND
B3GALNT1p.K105Sfs*14
Frame_Shift_Del
DEL
0.427
2-ND
B3GNT9p.A282T
Missense
SNP
0.514
2-ND
B4GALNT3-
-
-
-
4GainND
BARHL2p.P120Q
Missense
SNP
0.456
2-ND
BAZ1Bp.G348D
Missense
SNP
0.485
2-ND
BCAMp.V358M
Missense
SNP
0.521
2-ND
BCAT1-
-
-
-
4GainND
BCL2L14-
-
-
-
4GainND
BCL9Lp.P1198Lfs*5
Frame_Shift_Del
DEL
0.410
2-ND
BCORp.G400Afs*42
p.P178S
Frame_Shift_Del
Missense
DEL
SNP
0.461
0.100
NDNDND
BHLHE22p.G225S
Missense
SNP
0.197
2-ND
BHLHE41-
-
-
-
4GainND
BICD1-
-
-
-
4GainND
BMPR2p.N583Tfs*44
Frame_Shift_Del
DEL
0.414
2-ND
BORCS5-
-
-
-
4GainND
BPIp.A23T
Missense
SNP
0.478
2-ND
BRAFp.V600E
Missense
SNP
0.441
2-ND
BRD1p.R880H
Missense
SNP
0.488
2-ND
BTBD2p.R362Q
Missense
SNP
0.071
2-ND
C10orf71p.R157C
Missense
SNP
0.408
2-ND
C11orf88p.L23Ifs*16
Frame_Shift_Ins
INS
0.303
2-ND
C12orf4-
-
-
-
4GainND
C12orf57-
-
-
-
4GainND
C12orf60-
-
-
-
4GainND
C12orf71-
-
-
-
4GainND
C15orf59p.N293Tfs*29
Frame_Shift_Del
DEL
0.465
NDNDND
C16orf54p.P195L
Missense
SNP
0.466
2-ND
C16orf87p.A12T
Missense
SNP
0.429
2-ND
C1orf141p.P122Tfs*2
Frame_Shift_Ins
INS
0.318
2-ND
C1R-
-
-
-
4GainND
C1RL-
-
-
-
4GainND
C1S-
-
-
-
4GainND
C2CD5-
-
-
-
4GainND
C3AR1-
-
-
-
4GainND
C5orf45p.Q197R
Missense
SNP
0.522
NDNDND
C6orf89p.Q61Afs*10
Frame_Shift_Ins
INS
0.239
2-ND
CACNA1C-
-
-
-
4GainND
CACNA2D4-
-
-
-
4GainND
CADPS2p.N468Ifs*7
Frame_Shift_Del
DEL
0.559
2-ND
CAPRIN2p.T342Hfs*15
Frame_Shift_Del
DEL
0.716
4GainND
CAPZA3-
-
-
-
4GainND
CASC1-
-
-
-
4GainND
CCDC77-
-
-
-
4GainND
CCDC88Ap.R1413C
Missense
SNP
0.146
2-ND
CCDC91-
-
-
-
4GainND
CCND2-
-
-
-
4GainND
CD163-
-
-
-
4GainND
CD163L1-
-
-
-
4GainND
CD27-
-
-
-
4GainND
CD4-
-
-
-
4GainND
CD5Lp.A19V
Missense
SNP
0.573
2-ND
CD69-
-
-
-
4GainND
CD79Ap.R131Gfs*61
Frame_Shift_Del
DEL
0.456
2-ND
CD9-
-
-
-
4GainND
CDC7p.N31Tfs*51
Frame_Shift_Del
DEL
0.452
2-ND
CDCA3-
-
-
-
4GainND
CDH2p.A30T
Missense
SNP
0.498
2-ND
CDK8p.G348S
Missense
SNP
0.550
2-ND
CDKN1B-
-
-
-
4GainND
CEP152p.A387T
Missense
SNP
0.517
2-ND
CEPT1p.A396V
Missense
SNP
0.494
2-ND
CHD4-
-
-
-
4GainND
CHD5p.V213A
Missense
SNP
0.461
2-ND
CHD6p.R895C
Missense
SNP
0.539
2-ND
CLEC12A-
-
-
-
4GainND
CLEC12B-
-
-
-
4GainND
CLEC1A-
-
-
-
4GainND
CLEC1B-
-
-
-
4GainND
CLEC2A-
-
-
-
4GainND
CLEC2B-
-
-
-
4GainND
CLEC2D-
-
-
-
4GainND
CLEC4A-
-
-
-
4GainND
CLEC4C-
-
-
-
4GainND
CLEC4D-
-
-
-
4GainND
CLEC4E-
-
-
-
4GainND
CLEC6A-
-
-
-
4GainND
CLEC7A-
-
-
-
4GainND
CLEC9A-
-
-
-
4GainND
CLECL1-
-
-
-
4GainND
CLSTN3-
-
-
-
4GainND
CMAS-
-
-
-
4GainND
CNTN2p.G93Afs*6
Frame_Shift_Del
DEL
0.481
2-ND
CNTNAP1p.R1058H
Missense
SNP
0.479
2-ND
COILp.K196Rfs*13
Frame_Shift_Del
DEL
0.486
2-ND
COL11A2p.P345Lfs*79
Frame_Shift_Del
DEL
0.337
2-ND
COL12A1p.S661Ffs*13
Frame_Shift_Ins
INS
0.297
2-ND
COL4A3p.P1466S
Missense
SNP
0.541
2-ND
COLEC12p.K656Nfs*4
Frame_Shift_Del
DEL
0.404
2-ND
COPS7A-
-
-
-
4GainND
CR1p.A2252T
Missense
SNP
0.526
2-ND
CRACR2A-
-
-
-
4GainND
CREBBPp.I1084Nfs*3
Frame_Shift_Ins
INS
0.314
2-ND
CREBL2-
-
-
-
4GainND
CUX1p.P442Sfs*16
Frame_Shift_Ins
INS
0.295
2-ND
CYB5R4p.E248Rfs*12
Frame_Shift_Del
DEL
0.542
2-ND
CYSLTR1p.A140Sfs*28
Frame_Shift_Ins
INS
0.283
NDNDND
DBX1p.R175C
Missense
SNP
0.500
2-ND
DCP1B-
-
-
-
4GainND
DDX11-
-
-
-
4GainND
DDX17p.K121Sfs*4
Frame_Shift_Del
DEL
0.457
2-ND
DDX47-
-
-
-
4GainND
DDX60p.L1133Yfs*4
Frame_Shift_Del
DEL
0.959
2-ND
DENND5B-
-
-
-
4GainND
DENND6B-
-
-
-
3GainND
DERA-
-
-
-
4GainND
DLDp.V212Ffs*12
Frame_Shift_Del
DEL
0.493
2-ND
DLG5p.A1007V
Missense
SNP
0.474
2-ND
DMDp.L996I
Missense
SNP
0.419
NDNDND
DMKNp.G124R
Missense
SNP
0.469
2-ND
DNM1L-
-
-
-
4GainND
DOCK8p.F1113Lfs*2
Frame_Shift_Del
DEL
0.476
2-ND
DPPA3-
-
-
-
4GainND
DSELp.S472R
Missense
SNP
0.444
2-ND
DSTp.K3804Nfs*2
Frame_Shift_Del
DEL
0.385
2-ND
DTX4p.G510Afs*35
Frame_Shift_Del
DEL
0.459
2-ND
DUSP16-
-
-
-
4GainND
DYNC2H1p.I399*
Frame_Shift_Del
DEL
0.531
2-ND
DYRK4-
-
-
-
4GainND
ECEL1p.R332W
Missense
SNP
0.448
2-ND
EDC4p.R67Q
Missense
SNP
0.452
2-ND
EFHC2p.N652Kfs*9
Frame_Shift_Ins
INS
0.276
NDNDND
EIF2Ap.I537Sfs*4
Frame_Shift_Del
DEL
0.491
2-ND
EIF2S3B-
-
-
-
4GainND
EMG1-
-
-
-
4GainND
EML2p.G438Afs*3
Frame_Shift_Del
DEL
0.079
2-ND
EML6p.R255*
Nonsense
SNP
0.432
2-ND
EMP1-
-
-
-
4GainND
ENO2-
-
-
-
4GainND
EPHA2p.P460Rfs*33
Frame_Shift_Del
DEL
0.514
2-ND
EPHB6p.A219Pfs*56
Frame_Shift_Del
DEL
0.081
2-ND
EPS8-
-
-
-
4GainND
ERC1-
-
-
-
4GainND
ERGIC2-
-
-
-
4GainND
ERP27-
-
-
-
4GainND
ETFBKMT-
-
-
-
4GainND
ETFRF1-
-
-
-
4GainND
ETNK1-
-
-
-
4GainND
ETV6-
-
-
-
4GainND
EXO1p.D731Tfs*4
Frame_Shift_Del
DEL
0.431
2-ND
F13A1p.P290Hfs*72
Frame_Shift_Del
DEL
0.442
2-ND
FAM110Bp.R204H
Missense
SNP
0.501
2-ND
FAM234B-
-
-
-
4GainND
FAM83Hp.E474K
Missense
SNP
0.506
2-ND
FAR2-
-
-
-
4GainND
FASNp.A413Hfs*39
Frame_Shift_Del
DEL
0.516
2-ND
FBXL14-
-
-
-
4GainND
FBXW7p.R465C
Missense
SNP
0.476
2-ND
FERMT2p.D344N
Missense
SNP
0.487
2-ND
FGD4-
-
-
-
4GainND
FGF13p.P23Lfs*19
Frame_Shift_Del
DEL
0.461
NDNDND
FGF23-
-
-
-
4GainND
FGF6-
-
-
-
4GainND
FGFR1OP2-
-
-
-
4GainND
FHOD3p.S336Vfs*171
Frame_Shift_Del
DEL
0.130
2-ND
FKBP3p.F145Lfs*18
Frame_Shift_Del
DEL
0.703
2-ND
FKBP4-
-
-
-
4GainND
FLNCp.A337V
Missense
SNP
0.615
2-ND
FLT4p.Q423Rfs*70
Frame_Shift_Del
DEL
0.512
2-ND
FNDC1p.A653T
Missense
SNP
0.520
2-ND
FOSBp.V94I
Missense
SNP
0.496
2-ND
FOXG1p.T380M
Missense
SNP
0.465
2-ND
FOXJ2-
-
-
-
4GainND
FOXM1p.E709Nfs*12
Frame_Shift_Del
DEL
0.656
4GainND
FUNDC2p.Y127H
Missense
SNP
0.530
NDNDND
FZD7p.R203C
Missense
SNP
0.502
2-ND
G3BP2p.R132C
Missense
SNP
0.504
2-ND
GABARAPL1-
-
-
-
4GainND
GABBR1p.P15Rfs*32
Frame_Shift_Del
DEL
0.537
2-ND
GALNT8-
-
-
-
4GainND
GAPDH-
-
-
-
4GainND
GAS6p.V673Wfs*85
Frame_Shift_Del
DEL
0.518
2-ND
GDF3-
-
-
-
4GainND
GDI1p.K142R
Missense
SNP
0.502
NDNDND
GID4p.K183Nfs*5
Frame_Shift_Del
DEL
0.513
2-ND
GLI2p.A978V
Missense
SNP
0.062
2-ND
GLIS2p.A141Pfs*110
Frame_Shift_Del
DEL
0.414
2-ND
GNB3-
-
-
-
4GainND
GOLGA1p.T518P
Missense
SNP
0.456
2-ND
GOLPH3Lp.R10H
Missense
SNP
0.428
2-ND
GOLT1B-
-
-
-
4GainND
GPBAR1p.R43C
Missense
SNP
0.446
2-ND
GPC5p.R347H
Missense
SNP
0.518
2-ND
GPR162-
-
-
-
4GainND
GPR19p.N370Tfs*59
Frame_Shift_Del
DEL
0.212
4GainND
GPRC5A-
-
-
-
4GainND
GPRC5D-
-
-
-
4GainND
GRB14p.K297Nfs*23
Frame_Shift_Del
DEL
0.421
2-ND
GRIN2B-
-
-
-
4GainND
GRIN3Ap.R137H
Missense
SNP
0.418
2-ND
GRINAp.Q26Sfs*142
Frame_Shift_Del
DEL
0.101
2-ND
GSG1-
-
-
-
4GainND
GSG1Lp.A68P
Missense
SNP
0.058
2-ND
GSG2p.S366L
Missense
SNP
0.516
NDNDND
GUCY2C-
-
-
-
4GainND
GYS2-
-
-
-
4GainND
H2AFJ-
-
-
-
4GainND
H3F3C-
-
-
-
4GainND
HCFC1R1p.M84*
Frame_Shift_Del
DEL
0.393
2-ND
HDAC6p.G751Afs*16
Frame_Shift_Del
DEL
0.492
NDNDND
HEBP1-
-
-
-
4GainND
HECTD1p.R1323H
Missense
SNP
0.393
2-ND
HECW2p.D49N
Missense
SNP
0.436
2-ND
HEMK1p.G169R
Missense
SNP
0.492
2-ND
HERC5p.A879V
Missense
SNP
0.509
2-ND
HIST1H1Bp.P213_K217del
In_Frame_Del
DEL
0.500
2-ND
HIST1H2BKp.P9T
Missense
SNP
0.114
2-ND
HIST4H4-
-
-
-
4GainND
HIVEP2p.P2241L
Missense
SNP
0.455
2-ND
HLA-Bp.G124D
Missense
SNP
0.633
2-ND
HNRNPCL4-
-
-
-
1LossND
HS3ST3A1p.V38I
Missense
SNP
0.472
2-ND
HS6ST2p.D214N
Missense
SNP
0.501
NDNDND
HTR5Ap.R262L
Missense
SNP
0.441
2-ND
HTTp.N699Mfs*9
Frame_Shift_Del
DEL
0.479
2-ND
HUWE1p.R3971W
Missense
SNP
0.449
NDNDND
IAPP-
-
-
-
4GainND
IFFO1p.R375Afs*19
Frame_Shift_Ins
INS
0.095
4GainND
IGDCC4p.S553Afs*2
Frame_Shift_Del
DEL
0.443
2-ND
IKp.K408E
Missense
SNP
0.441
2-ND
ING4-
-
-
-
4GainND
INO80Dp.R553C
Missense
SNP
0.472
2-ND
INTS1p.A1379T
Missense
SNP
0.565
2-ND
INTS13-
-
-
-
4GainND
IPMKp.I306*
Frame_Shift_Del
DEL
0.464
2-ND
IPO8-
-
-
-
4GainND
IQCEp.S622I
Missense
SNP
0.389
2-ND
IQSEC3-
-
-
-
4GainND
IRX4p.A93V
Missense
SNP
0.515
2-ND
ITFG2-
-
-
-
4GainND
ITPR2-
-
-
-
4GainND
ITSN1p.K1075Nfs*26
Frame_Shift_Del
DEL
0.483
2-ND
JAKMIP1p.T512M
Missense
SNP
0.429
2-ND
KCNA1-
-
-
-
4GainND
KCNA5-
-
-
-
4GainND
KCNA6-
-
-
-
4GainND
KCNB2p.E146Nfs*3
Frame_Shift_Del
DEL
0.496
2-ND
KCNC3p.P581Rfs*27
Frame_Shift_Del
DEL
0.467
2-ND
KCNJ12p.K366T
Missense
SNP
0.158
2-ND
KCNJ8-
-
-
-
4GainND
KCTD9p.R98W
Missense
SNP
0.800
2-ND
KDM3Bp.G1670S
Missense
SNP
0.457
2-ND
KDM5A-
-
-
-
4GainND
KIAA1161p.A494V
Missense
SNP
0.468
NDNDND
KIAA1217p.R976Gfs*16
Frame_Shift_Del
DEL
0.115
2-ND
KIAA1462p.A266T
Missense
SNP
0.463
NDNDND
KIAA1551-
-
-
-
4GainND
KIF6p.L204*
Frame_Shift_Del
DEL
0.508
2-ND
KLHL13p.R434C
Missense
SNP
0.507
NDNDND
KLHL34p.R288Afs*7
Frame_Shift_Del
DEL
0.454
NDNDND
KLHL42-
-
-
-
4GainND
KLLNp.A38V
Missense
SNP
0.067
2-ND
KLRB1-
-
-
-
4GainND
KLRC1-
-
-
-
4GainND
KLRC2-
-
-
-
4GainND
KLRC3-
-
-
-
4GainND
KLRC4-
-
-
-
4GainND
KLRC4-KLRK1-
-
-
-
4GainND
KLRD1-
-
-
-
4GainND
KLRF1-
-
-
-
4GainND
KLRF2-
-
-
-
4GainND
KLRG1-
-
-
-
4GainND
KLRK1-
-
-
-
4GainND
KMT2Dp.L4921Wfs*74
Frame_Shift_Del
DEL
0.307
2-ND
KNDC1p.A173V
Missense
SNP
0.488
2-ND
KPNA3p.N437Tfs*3
Frame_Shift_Del
DEL
0.338
2-ND
KPNA7p.A321T
Missense
SNP
0.481
2-ND
KRAS-
-
-
-
4GainND
LAG3-
-
-
-
4GainND
LBX1p.P239Qfs*56
Frame_Shift_Del
DEL
0.422
2-ND
LDHB-
-
-
-
4GainND
LINGO1p.R338C
Missense
SNP
0.500
2-ND
LLGL2p.R567H
Missense
SNP
0.527
2-ND
LMNTD1-
-
-
-
4GainND
LMO3-
-
-
-
4GainND
LPAR5-
-
-
-
4GainND
LPCAT3-
-
-
-
4GainND
LRFN5p.T584M
Missense
SNP
0.476
2-ND
LRMP-
-
-
-
4GainND
LRP2p.S450Ffs*3
Frame_Shift_Ins
INS
0.314
2-ND
LRP6-
-
-
-
4GainND
LRRC23-
-
-
-
4GainND
LRRC38-
-
-
-
1LossND
LRRC46p.R50C
Missense
SNP
0.219
2-ND
LRRC8Dp.A121T
Missense
SNP
0.472
2-ND
LRRIQ1p.R359M
Missense
SNP
0.632
2-ND
LRRK2p.T2141M
Missense
SNP
0.431
2-ND
LRRTM4p.G562S
Missense
SNP
0.477
2-ND
LRTM2-
-
-
-
4GainND
LTBP2p.R15W
Missense
SNP
0.500
2-ND
LTBR-
-
-
-
4GainND
LYSTp.L1289F
Missense
SNP
0.492
2-ND
M6PR-
-
-
-
4GainND
MAGOHB-
-
-
-
4GainND
MAMDC4p.R369Gfs*174
Frame_Shift_Del
DEL
0.508
2-ND
MANSC1-
-
-
-
4GainND
MANSC4-
-
-
-
4GainND
MAP3K12p.S569Lfs*35
Frame_Shift_Ins
INS
0.309
2-ND
MAP3K6p.V171I
Missense
SNP
0.467
2-ND
MASP1p.R288W
Missense
SNP
0.518
2-ND
MBD3p.E275K
Missense
SNP
0.459
2-ND
MCCC1p.E425K
Missense
SNP
0.537
2-ND
MCM6p.A502T
Missense
SNP
0.405
2-ND
MED21-
-
-
-
4GainND
MFAP5-
-
-
-
4GainND
MGAT4Cp.R303H
Missense
SNP
0.465
2-ND
MGP-
-
-
-
4GainND
MGST1-
-
-
-
4GainND
MICAL3p.R1499Gfs*106
Frame_Shift_Del
DEL
0.410
2-ND
MIS18BP1p.N380Ifs*3
Frame_Shift_Del
DEL
0.676
2-ND
MLF2-
-
-
-
4GainND
MOSp.A77V
Missense
SNP
0.319
2-ND
MROH2Bp.R453M
Missense
SNP
0.398
2-ND
MRPL51-
-
-
-
4GainND
MRPS35-
-
-
-
4GainND
MTPAPp.A219D
Missense
SNP
0.373
2-ND
MUC16p.S7713Lfs*5
Frame_Shift_Del
DEL
0.471
2-ND
MYBL1p.N420Tfs*13
Frame_Shift_Del
DEL
0.419
2-ND
MYCBPAPp.R725W
Missense
SNP
0.511
2-ND
MYCT1p.F29Sfs*28
Frame_Shift_Del
DEL
0.352
2-ND
NANOG-
-
-
-
4GainND
NANOGNB-
-
-
-
4GainND
NCAPD2-
-
-
-
4GainND
NCOA3p.R218C
Missense
SNP
0.441
2-ND
NDST1p.R875Q
Missense
SNP
0.536
2-ND
NDST3p.F406I
Missense
SNP
0.518
2-ND
NDUFA9-
-
-
-
4GainND
NECAP1-
-
-
-
4GainND
NEIL2p.A84V
Missense
SNP
0.622
2-ND
NFATC4p.P88Rfs*69
Frame_Shift_Del
DEL
0.490
2-ND
NINJ2-
-
-
-
4GainND
NIPBLp.K603Sfs*11
Frame_Shift_Del
DEL
0.380
2-ND
NLRP11p.R122C
Missense
SNP
0.472
2-ND
NOP2-
-
-
-
4GainND
NOS1p.G676Afs*64
p.P272T
Frame_Shift_Del
Missense
DEL
SNP
0.500
0.397
2-ND
NR2F2p.A304V
Missense
SNP
0.471
2-ND
NRAPp.Y1041H
Missense
SNP
0.490
2-ND
NRIP2-
-
-
-
4GainND
NSMCE3p.R229*
Nonsense
SNP
0.492
2-ND
NTF3-
-
-
-
4GainND
NTRK3p.T283M
Missense
SNP
0.435
2-ND
OBSCNp.R8923C
Missense
SNP
0.509
2-ND
OLR1-
-
-
-
4GainND
OR1C1p.A47V
Missense
SNP
0.442
2-ND
OR1L3p.C179Vfs*7
Frame_Shift_Del
DEL
0.459
2-ND
OR4D5p.R233H
Missense
SNP
0.513
2-ND
OR52K1p.R153Q
Missense
SNP
0.487
2-ND
OR6C75p.L200*
Frame_Shift_Del
DEL
0.475
2-ND
OSBPL5p.R379W
Missense
SNP
0.076
2-ND
OVCH1-
-
-
-
4GainND
P3H3-
-
-
-
4GainND
PAQR5p.R29H
Missense
SNP
0.561
2-ND
PARP11-
-
-
-
4GainND
PAX6p.P389Hfs*7
Frame_Shift_Del
DEL
0.476
2-ND
PCDHA7p.A562T
Missense
SNP
0.446
2-ND
PCDHB3p.A719V
Missense
SNP
0.593
2-ND
PCDHGA1p.A696V
Missense
SNP
0.544
2-ND
PCMTD1p.R162Q
Missense
SNP
0.516
2-ND
PCSK7p.A498V
Missense
SNP
0.500
2-ND
PDE3A-
-
-
-
4GainND
PDE6H-
-
-
-
4GainND
PDPRp.R427H
Missense
SNP
0.211
2-ND
PDS5Ap.E924A
Missense
SNP
0.476
2-ND
PEX5-
-
-
-
4GainND
PFN3p.G68Afs*43
Frame_Shift_Del
DEL
0.419
2-ND
PHACTR4p.K61E
Missense
SNP
0.470
2-ND
PHAXp.M185Nfs*32
Frame_Shift_Ins
INS
0.309
2-ND
PHB2-
-
-
-
4GainND
PHC1-
-
-
-
4GainND
PIANP-
-
-
-
4GainND
PIK3C2G-
-
-
-
4GainND
PIK3CAp.H1047R
Missense
SNP
0.487
2-ND
PIK3R3p.M295*
Frame_Shift_Del
DEL
0.442
2-ND
PKP2-
-
-
-
4GainND
PLBD1-
-
-
-
4GainND
PLCB2p.R662C
Missense
SNP
0.323
2-ND
PLCZ1-
-
-
-
4GainND
PLEKHA5-
-
-
-
4GainND
PLEKHG6-
-
-
-
4GainND
PLK3p.R634H
Missense
SNP
0.528
2-ND
PLXNB1p.G179Vfs*41
Frame_Shift_Del
DEL
0.551
2-ND
POLR2Ap.Q529Rfs*32
Frame_Shift_Del
DEL
0.417
2-ND
POU2F2p.P148H
Missense
SNP
0.435
2-ND
POU3F2p.S429Vfs*60
Frame_Shift_Del
DEL
0.463
2-ND
PPFIA2p.A915V
Missense
SNP
0.432
2-ND
PPFIBP1-
-
-
-
4GainND
PPP1R13Bp.Q511Sfs*39
Frame_Shift_Del
DEL
0.441
2-ND
PPP1R3Fp.R562C
Missense
SNP
0.509
NDNDND
PPP2R1Ap.R459C
Missense
SNP
0.509
2-ND
PPRC1p.P1461Hfs*79
Frame_Shift_Del
DEL
0.430
2-ND
PRAMEF13-
-
-
-
1LossND
PRAMEF15-
-
-
-
1LossND
PRAMEF18-
-
-
-
1LossND
PRAMEF19-
-
-
-
1LossND
PRAMEF20-
-
-
-
1LossND
PRAMEF26-
-
-
-
1LossND
PRAMEF5-
-
-
-
1LossND
PRAMEF8-
-
-
-
1LossND
PRB1-
-
-
-
4GainND
PRB2-
-
-
-
4GainND
PRB3-
-
-
-
4GainND
PRB4-
-
-
-
4GainND
PRH1-
-
-
-
4GainND
PRH1-PRR4-
-
-
-
4GainND
PRH2-
-
-
-
4GainND
PRICKLE2p.M590T
Missense
SNP
0.517
2-ND
PRLHp.R69*
Nonsense
SNP
0.527
2-ND
PRMT8-
-
-
-
4GainND
PRR32p.S14L
Missense
SNP
0.583
NDNDND
PRR4-
-
-
-
4GainND
PSG3p.K47E
Missense
SNP
0.414
2-ND
PTHLH-
-
-
-
4GainND
PTMS-
-
-
-
4GainND
PTPN13p.D291G
Missense
SNP
0.463
2-ND
PTPN6-
-
-
-
4GainND
PTPRO-
-
-
-
4GainND
PYROXD1-
-
-
-
4GainND
PZP-
-
-
-
4GainND
RABL6p.A307T
Missense
SNP
0.526
2-ND
RAD51AP1-
-
-
-
4GainND
RAD52-
-
-
-
4GainND
RAPGEF2p.S522Vfs*12
Frame_Shift_Del
DEL
0.491
2-ND
RASSF8-
-
-
-
4GainND
RBM27p.K816Nfs*5
Frame_Shift_Del
DEL
0.490
2-ND
RBP5-
-
-
-
4GainND
RECQL-
-
-
-
4GainND
REEP1p.A171T
Missense
SNP
0.509
2-ND
REP15-
-
-
-
4GainND
REREp.G92S
Missense
SNP
0.459
2-ND
RERG-
-
-
-
4GainND
RERGL-
-
-
-
4GainND
RGS12p.K1178Nfs*32
Frame_Shift_Del
DEL
0.538
2-ND
RHNO1-
-
-
-
4GainND
RHOBTB3p.M230Nfs*7
Frame_Shift_Ins
INS
0.278
2-ND
RIMKLB-
-
-
-
4GainND
RMDN3p.T386Lfs*22
Frame_Shift_Del
DEL
0.376
2-ND
RNF151p.R131W
Missense
SNP
0.531
2-ND
ROCK1p.K1307Nfs*3
Frame_Shift_Del
DEL
0.417
2-ND
RP1p.P1282Lfs*12
Frame_Shift_Del
DEL
0.384
2-ND
RPGRp.E1051Kfs*38
Frame_Shift_Del
DEL
0.463
NDNDND
RPL24p.R157H
Missense
SNP
0.361
2-ND
RPP14p.K99Nfs*6
Frame_Shift_Del
DEL
0.060
2-ND
RS1p.R182H
Missense
SNP
0.073
NDNDND
RWDD4p.F68Lfs*9
Frame_Shift_Del
DEL
0.292
2-ND
RYR2p.G4401E
Missense
SNP
0.390
2-ND
SASS6p.L57Yfs*14
Frame_Shift_Del
DEL
0.379
2-ND
SBF2p.R1132H
Missense
SNP
0.455
2-ND
SCN2Ap.T90M
Missense
SNP
0.361
2-ND
SCN9Ap.E433Sfs*36
Frame_Shift_Del
DEL
0.578
2-ND
SCNN1A-
-
-
-
4GainND
SCUBE2p.A197T
Missense
SNP
0.503
2-ND
SDR39U1p.R151H
Missense
SNP
0.532
2-ND
SEC16Ap.G1417Afs*47
Frame_Shift_Del
DEL
0.562
2-ND
SEC31Ap.I462Lfs*16
Frame_Shift_Del
DEL
0.498
2-ND
SETD5p.R618Q
Missense
SNP
0.583
2-ND
SGK2p.A119V
Missense
SNP
0.424
2-ND
SGO2p.K888Sfs*16
Frame_Shift_Del
DEL
0.267
2-ND
SHANK3p.A1226Pfs*57
Frame_Shift_Del
DEL
0.388
2-ND
SINHCAF-
-
-
-
4GainND
SIPA1L3p.L1294Wfs*199
Frame_Shift_Del
DEL
0.463
2-ND
SLC15A5-
-
-
-
4GainND
SLC1A7p.Q188K
Missense
SNP
0.574
2-ND
SLC24A4p.R95*
Nonsense
SNP
0.451
2-ND
SLC25A22p.G155Vfs*19
Frame_Shift_Del
DEL
0.434
2-ND
SLC26A7p.K333Nfs*20
Frame_Shift_Del
DEL
0.386
2-ND
SLC2A14-
-
-
-
4GainND
SLC2A2p.R365L
Missense
SNP
0.492
2-ND
SLC2A3-
-
-
-
4GainND
SLC6A12-
-
-
-
4GainND
SLC6A13-
-
-
-
4GainND
SLC7A13p.S126Afs*20
Frame_Shift_Del
DEL
0.420
2-ND
SLC9A8p.F182C
Missense
SNP
0.518
2-ND
SLC9C2p.R203W
Missense
SNP
0.662
2-ND
SLCO1A2-
-
-
-
4GainND
SLCO1B1-
-
-
-
4GainND
SLCO1B3-
-
-
-
4GainND
SLCO1B7-
-
-
-
4GainND
SLCO1C1-
-
-
-
4GainND
SMAD2p.R114C
Missense
SNP
0.566
2-ND
SMCO2-
-
-
-
4GainND
SMCO3-
-
-
-
4GainND
SOCS6p.N66Kfs*49
Frame_Shift_Ins
INS
0.068
2-ND
SOX5-
-
-
-
4GainND
SP8p.R445C
Missense
SNP
0.364
2-ND
SPERTp.V98M
Missense
SNP
0.478
2-ND
SPSB2-
-
-
-
4GainND
SPTBN1p.R523Q
Missense
SNP
0.538
2-ND
SPX-
-
-
-
4GainND
SRCAPp.P1878Hfs*89
Frame_Shift_Del
DEL
0.466
2-ND
SRGAP2p.A1019T
Missense
SNP
0.535
2-ND
SRP19p.R74C
Missense
SNP
0.483
2-ND
SSPN-
-
-
-
4GainND
ST8SIA1p.V61Cfs*34
Frame_Shift_Del
DEL
0.226
4GainND
STK38L-
-
-
-
4GainND
STRAP-
-
-
-
4GainND
STYK1-
-
-
-
4GainND
SUPT3Hp.E221K
Missense
SNP
0.468
2-ND
SYCE2p.W172*
Nonsense
SNP
0.550
2-ND
SYCP2p.M176*
Frame_Shift_Del
DEL
0.155
2-ND
SYNE1p.A3854Lfs*20
p.A5404V
Frame_Shift_Del
Missense
DEL
SNP
0.109
0.411
2-ND
SYNMp.D843N
Missense
SNP
0.445
2-ND
SYT10-
-
-
-
4GainND
TAPBPL-
-
-
-
4GainND
TAS2R10-
-
-
-
4GainND
TAS2R13-
-
-
-
4GainND
TAS2R14-
-
-
-
4GainND
TAS2R19-
-
-
-
4GainND
TAS2R20-
-
-
-
4GainND
TAS2R30p.A23V
Missense
SNP
0.448
4GainND
TAS2R31-
-
-
-
4GainND
TAS2R42-
-
-
-
4GainND
TAS2R43-
-
-
-
4GainND
TAS2R46-
-
-
-
4GainND
TAS2R50-
-
-
-
4GainND
TAS2R7-
-
-
-
4GainND
TAS2R8-
-
-
-
4GainND
TAS2R9-
-
-
-
4GainND
TBATAp.A194T
Missense
SNP
0.500
2-ND
TBL1XR1p.W177R
Missense
SNP
0.370
2-ND
TCHHL1p.N56K
Missense
SNP
0.594
2-ND
TCP10Lp.G214Vfs*26
Frame_Shift_Del
DEL
0.339
2-ND
TEAD4-
-
-
-
4GainND
TEX52-
-
-
-
4GainND
TFDP2p.E203Kfs*20
Frame_Shift_Del
DEL
0.471
2-ND
TGFB1I1p.T62M
Missense
SNP
0.433
2-ND
TGFBR2p.E239*
Nonsense
SNP
0.469
2-ND
THAP1p.D192G
Missense
SNP
0.541
2-ND
THBS4p.A24T
Missense
SNP
0.534
2-ND
TIGAR-
-
-
-
4GainND
TIMM50p.R217Q
Missense
SNP
0.459
2-ND
TLR9p.A164T
Missense
SNP
0.482
2-ND
TM7SF3-
-
-
-
4GainND
TMC1p.V537I
Missense
SNP
0.439
2-ND
TMEM161Bp.R354*
Nonsense
SNP
0.357
2-ND
TMEM25p.A219V
Missense
SNP
0.464
2-ND
TMEM52B-
-
-
-
4GainND
TMEM57p.F102Lfs*47
Frame_Shift_Del
DEL
0.441
NDNDND
TMEM79p.R163Pfs*9
Frame_Shift_Ins
INS
0.275
2-ND
TMEM8Bp.R377H
Missense
SNP
0.483
2-ND
TMTC1-
-
-
-
4GainND
TNFRSF1A-
-
-
-
4GainND
TNIP2p.D4Tfs*60
Frame_Shift_Del
DEL
0.462
2-ND
TNK2p.P839Rfs*72
Frame_Shift_Del
DEL
0.395
2-ND
TP53BP2p.V206L
Missense
SNP
0.519
2-ND
TPI1-
-
-
-
4GainND
TRAF7p.R316C
Missense
SNP
0.463
2-ND
TRIM56p.Q373E
Missense
SNP
0.394
2-ND
TRPM2p.A177Pfs*6
Frame_Shift_Del
DEL
0.512
2-ND
TRPM5p.Q762Rfs*35
Frame_Shift_Del
DEL
0.479
2-ND
TRPM8p.R223W
Missense
SNP
0.606
2-ND
TSHZ3p.L999V
Missense
SNP
0.379
2-ND
TSPAN11-
-
-
-
4GainND
TSPAN9-
-
-
-
4GainND
TTC29p.A431S
Missense
SNP
0.500
2-ND
TTC39Cp.H227Tfs*31
Frame_Shift_Del
DEL
0.551
2-ND
TULP3-
-
-
-
4GainND
TWIST1p.R74C
Missense
SNP
0.650
2-ND
UBA1p.R558H
Missense
SNP
0.466
NDNDND
UBE2NLp.R14C
Missense
SNP
0.079
NDNDND
UFL1p.R660Gfs*17
Frame_Shift_Del
DEL
0.397
2-ND
UGT2B10p.A501T
Missense
SNP
0.324
2-ND
URGCPp.V672I
Missense
SNP
0.493
2-ND
USP5-
-
-
-
4GainND
VAMP1-
-
-
-
4GainND
VANGL2p.V477I
Missense
SNP
0.541
2-ND
VWF-
-
-
-
4GainND
WBP11-
-
-
-
4GainND
WDR66p.E1009K
Missense
SNP
0.407
2-ND
WDR7p.M1489V
Missense
SNP
0.466
2-ND
WDR74p.A4D
Missense
SNP
0.541
2-ND
WNK1-
-
-
-
4GainND
WNT5B-
-
-
-
4GainND
WWC2p.M206Nfs*9
Frame_Shift_Ins
INS
0.317
2-ND
XXYLT1p.Q213E
Missense
SNP
0.477
2-ND
YARS2-
-
-
-
4GainND
YBX3-
-
-
-
4GainND
ZBED4p.N148Tfs*5
Frame_Shift_Del
DEL
0.526
2-ND
ZC3H13p.R1007Tfs*2
Frame_Shift_Ins
INS
0.237
2-ND
ZC3H3p.A786Gfs*146
Frame_Shift_Ins
INS
0.312
2-ND
ZDHHC4p.F115Sfs*3
Frame_Shift_Del
DEL
0.487
2-ND
ZDHHC8p.T459Rfs*177
Frame_Shift_Del
DEL
0.189
2-ND
ZFHX3p.G361R
Missense
SNP
0.125
2-ND
ZFP36L1p.S294Afs*13
Frame_Shift_Del
DEL
0.504
2-ND
ZFR2p.P188Rfs*239
Frame_Shift_Del
DEL
0.448
2-ND
ZMIZ1p.P395A
Missense
SNP
0.255
2-ND
ZNF124p.T339Lfs*31
Frame_Shift_Del
DEL
0.500
2-ND
ZNF276p.G450D
Missense
SNP
0.486
2-ND
ZNF292p.F1168Lfs*29
Frame_Shift_Del
DEL
0.451
2-ND
ZNF384-
-
-
-
4GainND
ZNF438p.R617*
Nonsense
SNP
0.505
2-ND
ZNF469p.R3417Gfs*56
Frame_Shift_Del
DEL
0.072
2-ND
ZNF514p.T399Pfs*21
Frame_Shift_Del
DEL
0.400
2-ND
ZNF726p.N439T
Missense
SNP
0.449
2-ND
ZNF74p.R631Efs*84
Frame_Shift_Del
DEL
0.492
2-ND
ZNF835p.P109Q
Missense
SNP
0.493
2-ND