PDMR-361931~004-R~QV3-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
4Gain-
A2ML1-
-
-
-
4Gain-
ABCA13p.Y2559H
p.A4850T
Missense
Missense
SNP
SNP
0.115
0.496
2--
ABCC12p.A616T
Missense
SNP
0.459
2--
ABCC9-
-
-
-
4Gain-
ABCG1p.R533H
Missense
SNP
0.494
2--
ABI3p.A82T
Missense
SNP
0.404
2--
AC005832.4-
-
-
-
4Gain-
AC005833.1-
-
-
-
4Gain-
AC006064.6-
-
-
-
4Gain-
AC006518.7-
-
-
-
4Gain-
AC008012.1-
-
-
-
4Gain-
AC010197.2-
-
-
-
4Gain-
AC011604.2-
-
-
-
4Gain-
AC022335.1-
-
-
-
4Gain-
AC068775.1-
-
-
-
4Gain-
AC092111.3-
-
-
-
4Gain-
ACAA1p.R102Q
Missense
SNP
0.520
2--
ACACBp.V1006I
Missense
SNP
0.392
2--
ACRBPp.H321N
Missense
SNP
0.241
4Gain-
ACSM4-
-
-
-
4Gain-
ACTL8p.V157M
Missense
SNP
0.506
2--
ACTL9p.D136N
Missense
SNP
0.455
2--
ACTR6p.E186K
Missense
SNP
0.481
2--
ACVR2Ap.K437Rfs*5
Frame_Shift_Del
DEL
0.929
2--
ADAD2p.R204H
Missense
SNP
0.490
2--
ADAMTS16p.T746M
Missense
SNP
0.532
2--
ADAMTS5p.E49Rfs*117
p.R170C
Frame_Shift_Del
Missense
DEL
SNP
0.510
0.476
2--
ADCK3p.R187H
Missense
SNP
0.515
NDND-
ADGBp.T73Qfs*23
Frame_Shift_Del
DEL
0.495
2--
ADIPOR2-
-
-
-
4Gain-
AEBP2-
-
-
-
4Gain-
AICDA-
-
-
-
4Gain-
AKAP3-
-
-
-
4Gain-
AKAP9p.K39Rfs*17
Frame_Shift_Del
DEL
0.513
2--
ALG10-
-
-
-
4Gain-
AMN1-
-
-
-
4Gain-
AMY1A-
-
-
-
1Loss-
AMY1B-
-
-
-
1Loss-
AMY1C-
-
-
-
1Loss-
AMY2A-
-
-
-
1Loss-
AMY2B-
-
-
-
1Loss-
ANK1p.A461V
Missense
SNP
0.447
2--
ANO2-
-
-
-
4Gain-
APCp.I638Yfs*8
p.T1556Nfs*3
p.A928T
Frame_Shift_Del
Frame_Shift_Ins
Missense
DEL
INS
SNP
0.216
0.341
0.495
2--
APOBEC1-
-
-
-
4Gain-
APOLD1-
-
-
-
4Gain-
ARHGAP36p.R439C
Missense
SNP
0.455
NDND-
ARHGDIB-
-
-
-
4Gain-
ARHGEF15p.R456Vfs*21
Frame_Shift_Del
DEL
0.432
2--
ARID2p.L446S
Missense
SNP
0.537
2--
ARL14EPp.N89Ifs*4
Frame_Shift_Del
DEL
0.461
2--
ARNTL2-
-
-
-
4Gain-
ART4-
-
-
-
4Gain-
ASPGp.R182W
Missense
SNP
0.440
2--
ASXL3p.R989Q
Missense
SNP
0.482
2--
ATF7IP-
-
-
-
4Gain-
ATN1-
-
-
-
4Gain-
ATP10Ap.V802M
Missense
SNP
0.474
2--
ATP2B2p.A543T
p.A318V
Missense
Missense
SNP
SNP
0.476
0.518
2--
AXIN2p.T437M
Missense
SNP
0.484
2--
B3GALNT1p.K105Sfs*14
Frame_Shift_Del
DEL
0.402
2--
B3GNT9p.A282T
Missense
SNP
0.512
2--
B4GALNT3-
-
-
-
4Gain-
BAG5p.N366Kfs*23
Frame_Shift_Ins
INS
0.074
2--
BARHL2p.P120Q
Missense
SNP
0.523
2--
BAZ1Bp.G348D
Missense
SNP
0.456
2--
BCAMp.V358M
Missense
SNP
0.600
2--
BCAT1-
-
-
-
4Gain-
BCL2L14-
-
-
-
4Gain-
BCL9Lp.P1198Lfs*5
Frame_Shift_Del
DEL
0.494
2--
BCORp.G400Afs*42
Frame_Shift_Del
DEL
0.417
NDND-
BCORL1p.P1681Qfs*20
Frame_Shift_Del
DEL
0.106
NDND-
BHLHE41-
-
-
-
4Gain-
BICD1-
-
-
-
4Gain-
BMPR2p.N583Tfs*44
Frame_Shift_Del
DEL
0.400
2--
BORCS5-
-
-
-
4Gain-
BPIp.A23T
Missense
SNP
0.510
2--
BRAFp.V600E
Missense
SNP
0.596
2--
BRD1p.R880H
Missense
SNP
0.510
2--
C10orf71p.R157C
Missense
SNP
0.415
2--
C11orf88p.L23Ifs*16
Frame_Shift_Ins
INS
0.314
2--
C12orf4-
-
-
-
4Gain-
C12orf57-
-
-
-
4Gain-
C12orf60-
-
-
-
4Gain-
C12orf71-
-
-
-
4Gain-
C15orf59p.N293Tfs*29
Frame_Shift_Del
DEL
0.575
NDND-
C16orf54p.P195L
Missense
SNP
0.545
2--
C16orf87p.A12T
Missense
SNP
0.468
2--
C1R-
-
-
-
4Gain-
C1RL-
-
-
-
4Gain-
C1S-
-
-
-
4Gain-
C2CD5-
-
-
-
4Gain-
C3AR1-
-
-
-
4Gain-
C5orf45p.Q197R
Missense
SNP
0.557
NDND-
C6orf89p.Q61Afs*10
Frame_Shift_Ins
INS
0.254
2--
C9orf131p.C344Afs*49
Frame_Shift_Del
DEL
0.130
2--
CACNA1C-
-
-
-
4Gain-
CACNA2D4-
-
-
-
4Gain-
CADPS2p.N468Ifs*7
Frame_Shift_Del
DEL
0.475
2--
CAPRIN2p.T342Hfs*15
Frame_Shift_Del
DEL
0.762
4Gain-
CAPZA3-
-
-
-
4Gain-
CASC1-
-
-
-
4Gain-
CCDC77-
-
-
-
4Gain-
CCDC91-
-
-
-
4Gain-
CCND2-
-
-
-
4Gain-
CD163-
-
-
-
4Gain-
CD163L1-
-
-
-
4Gain-
CD27-
-
-
-
4Gain-
CD4-
-
-
-
4Gain-
CD5Lp.A19V
Missense
SNP
0.550
2--
CD69-
-
-
-
4Gain-
CD79Ap.R131Gfs*61
Frame_Shift_Del
DEL
0.506
2--
CD9-
-
-
-
4Gain-
CDAN1p.P1100Rfs*36
Frame_Shift_Del
DEL
0.134
2--
CDC7p.N31Tfs*51
Frame_Shift_Del
DEL
0.454
2--
CDCA3-
-
-
-
4Gain-
CDH2p.A30T
Missense
SNP
0.573
2--
CDK8p.G348S
Missense
SNP
0.603
2--
CDKN1B-
-
-
-
4Gain-
CEP152p.A387T
Missense
SNP
0.486
2--
CEPT1p.A396V
Missense
SNP
0.496
2--
CHD4-
-
-
-
4Gain-
CHD5p.V213A
Missense
SNP
0.468
2--
CHD6p.R895C
Missense
SNP
0.488
2--
CLEC12A-
-
-
-
4Gain-
CLEC12B-
-
-
-
4Gain-
CLEC1A-
-
-
-
4Gain-
CLEC1B-
-
-
-
4Gain-
CLEC2A-
-
-
-
4Gain-
CLEC2B-
-
-
-
4Gain-
CLEC2D-
-
-
-
4Gain-
CLEC4A-
-
-
-
4Gain-
CLEC4Cp.R179C
Missense
SNP
0.239
4Gain-
CLEC4D-
-
-
-
4Gain-
CLEC4E-
-
-
-
4Gain-
CLEC6A-
-
-
-
4Gain-
CLEC7A-
-
-
-
4Gain-
CLEC9A-
-
-
-
4Gain-
CLECL1-
-
-
-
4Gain-
CLSTN3-
-
-
-
4Gain-
CMAS-
-
-
-
4Gain-
CNTN2p.G93Afs*6
Frame_Shift_Del
DEL
0.416
2--
CNTNAP1p.R1058H
Missense
SNP
0.560
2--
COILp.K196Rfs*13
Frame_Shift_Del
DEL
0.404
2--
COL11A2p.P345Lfs*79
Frame_Shift_Del
DEL
0.454
2--
COL12A1p.S661Ffs*13
Frame_Shift_Ins
INS
0.345
2--
COL1A2-
-
-
-
1Loss-
COL4A3p.P1466S
Missense
SNP
0.577
2--
COL5A2-
-
-
-
1Loss-
COLEC12p.K656Nfs*4
Frame_Shift_Del
DEL
0.535
2--
COPS7A-
-
-
-
4Gain-
CR1p.A2252T
Missense
SNP
0.470
2--
CRACR2A-
-
-
-
4Gain-
CREBBPp.I1084Nfs*3
Frame_Shift_Ins
INS
0.320
2--
CREBL2-
-
-
-
4Gain-
CUX1p.P442Sfs*16
Frame_Shift_Ins
INS
0.306
2--
CYB5R4p.E248Rfs*12
Frame_Shift_Del
DEL
0.612
2--
CYSLTR1p.A140Sfs*28
Frame_Shift_Ins
INS
0.322
NDND-
DBX1p.R175C
Missense
SNP
0.535
2--
DCP1B-
-
-
-
4Gain-
DDX11-
-
-
-
4Gain-
DDX17p.K121Sfs*4
Frame_Shift_Del
DEL
0.464
2--
DDX47-
-
-
-
4Gain-
DDX60p.L1133Yfs*4
Frame_Shift_Del
DEL
0.951
2--
DENND5B-
-
-
-
4Gain-
DENND6B-
-
-
-
3Gain-
DERA-
-
-
-
4Gain-
DIAPH2p.R1036C
Missense
SNP
0.076
NDND-
DLDp.V212Ffs*12
Frame_Shift_Del
DEL
0.410
2--
DLG5p.A1007V
Missense
SNP
0.541
2--
DMDp.L996I
Missense
SNP
0.478
NDND-
DMKNp.G124R
Missense
SNP
0.493
2--
DNM1L-
-
-
-
4Gain-
DOCK8p.F1113Lfs*2
Frame_Shift_Del
DEL
0.440
2--
DPPA3-
-
-
-
4Gain-
DSELp.S472R
Missense
SNP
0.503
2--
DSTp.K3804Nfs*2
Frame_Shift_Del
DEL
0.407
2--
DTX4p.G510Afs*35
Frame_Shift_Del
DEL
0.464
2--
DUSP16-
-
-
-
4Gain-
DYNC2H1p.I399*
Frame_Shift_Del
DEL
0.520
2--
DYRK4-
-
-
-
4Gain-
ECEL1p.R332W
Missense
SNP
0.439
2--
EDC4p.R67Q
Missense
SNP
0.533
2--
EFHC2p.N652Kfs*9
Frame_Shift_Ins
INS
0.302
NDND-
EIF2S3B-
-
-
-
4Gain-
EMG1-
-
-
-
4Gain-
EML6p.R255*
Nonsense
SNP
0.410
2--
EMP1-
-
-
-
4Gain-
ENO2-
-
-
-
4Gain-
EPHA2p.P460Rfs*33
Frame_Shift_Del
DEL
0.384
2--
EPS8-
-
-
-
4Gain-
ERC1-
-
-
-
4Gain-
ERGIC2-
-
-
-
4Gain-
ERP27-
-
-
-
4Gain-
ETFBKMT-
-
-
-
4Gain-
ETFRF1-
-
-
-
4Gain-
ETNK1-
-
-
-
4Gain-
ETV6-
-
-
-
4Gain-
EXO1p.D731Tfs*4
Frame_Shift_Del
DEL
0.440
2--
F13A1p.P290Hfs*72
Frame_Shift_Del
DEL
0.470
2--
FAM110Bp.R204H
Missense
SNP
0.554
2--
FAM234B-
-
-
-
4Gain-
FAM83Hp.E474K
Missense
SNP
0.597
2--
FAR2-
-
-
-
4Gain-
FASNp.A413Hfs*39
Frame_Shift_Del
DEL
0.356
2--
FBXL14-
-
-
-
4Gain-
FBXW7p.R465C
Missense
SNP
0.466
2--
FERMT2p.D344N
Missense
SNP
0.414
2--
FGD1p.P176Hfs*39
Frame_Shift_Del
DEL
0.195
NDND-
FGD4-
-
-
-
4Gain-
FGF13p.P23Lfs*19
Frame_Shift_Del
DEL
0.488
NDND-
FGF23-
-
-
-
4Gain-
FGF6-
-
-
-
4Gain-
FGFR1OP2-
-
-
-
4Gain-
FHOD3p.S336Vfs*171
Frame_Shift_Del
DEL
0.264
2--
FKBP3p.F145Lfs*18
Frame_Shift_Del
DEL
0.381
2--
FKBP4-
-
-
-
4Gain-
FLNAp.R1272H
Missense
SNP
0.053
NDND-
FLNCp.A337V
Missense
SNP
0.483
2--
FLT4p.Q423Rfs*70
Frame_Shift_Del
DEL
0.449
2--
FNDC1p.A653T
Missense
SNP
0.488
2--
FOSBp.V94I
Missense
SNP
0.519
2--
FOXG1p.T380M
Missense
SNP
0.492
2--
FOXJ2-
-
-
-
4Gain-
FOXM1p.E709Nfs*12
Frame_Shift_Del
DEL
0.626
4Gain-
FUNDC2p.Y127H
Missense
SNP
0.473
NDND-
FZD7p.R203C
Missense
SNP
0.481
2--
G3BP2p.R132C
Missense
SNP
0.437
2--
GABARAPL1-
-
-
-
4Gain-
GABBR1p.P15Rfs*32
Frame_Shift_Del
DEL
0.484
2--
GALNT8-
-
-
-
4Gain-
GAPDH-
-
-
-
4Gain-
GDF3-
-
-
-
4Gain-
GID4p.K183Nfs*5
Frame_Shift_Del
DEL
0.485
2--
GLIS2p.A141Pfs*110
Frame_Shift_Del
DEL
0.420
2--
GNB3-
-
-
-
4Gain-
GOLGA1p.T518P
Missense
SNP
0.512
2--
GOLGA6Ap.W200R
p.Q198H
Missense
Missense
SNP
SNP
0.098
0.095
2--
GOLPH3Lp.R10H
Missense
SNP
0.455
2--
GOLT1B-
-
-
-
4Gain-
GPBAR1p.R43C
Missense
SNP
0.504
2--
GPC5p.R347H
Missense
SNP
0.492
2--
GPR162-
-
-
-
4Gain-
GPR19p.N370Tfs*59
Frame_Shift_Del
DEL
0.244
4Gain-
GPRC5A-
-
-
-
4Gain-
GPRC5D-
-
-
-
4Gain-
GRB14p.K297Nfs*23
Frame_Shift_Del
DEL
0.500
2--
GRIN2B-
-
-
-
4Gain-
GRIN3Ap.R137H
Missense
SNP
0.480
2--
GSG1-
-
-
-
4Gain-
GSG2p.S366L
Missense
SNP
0.482
NDND-
GUCY2C-
-
-
-
4Gain-
GYS2-
-
-
-
4Gain-
H2AFJ-
-
-
-
4Gain-
H3F3C-
-
-
-
4Gain-
HCFC1R1p.M84*
Frame_Shift_Del
DEL
0.388
2--
HDAC6p.G751Afs*16
Frame_Shift_Del
DEL
0.370
NDND-
HDXp.N145Mfs*15
Frame_Shift_Del
DEL
0.052
NDND-
HEBP1-
-
-
-
4Gain-
HECTD1p.R1323H
Missense
SNP
0.654
2--
HECW2p.D49N
Missense
SNP
0.518
2--
HEMK1p.G169R
Missense
SNP
0.522
2--
HERC5p.A879V
Missense
SNP
0.434
2--
HIST1H1Bp.P213_K217del
In_Frame_Del
DEL
0.399
2--
HIST1H2BKp.P9T
Missense
SNP
0.085
2--
HIST4H4-
-
-
-
4Gain-
HIVEP2p.P2241L
Missense
SNP
0.433
2--
HLA-Bp.G124D
Missense
SNP
0.439
2--
HS3ST3A1p.V38I
Missense
SNP
0.507
2--
HS6ST2p.D214N
Missense
SNP
0.463
NDND-
HTR5Ap.R262L
Missense
SNP
0.512
2--
HTTp.N699Mfs*9
Frame_Shift_Del
DEL
0.419
2--
HUWE1p.R3971W
Missense
SNP
0.575
NDND-
IAPP-
-
-
-
4Gain-
IFFO1-
-
-
-
4Gain-
IGDCC4p.S553Afs*2
Frame_Shift_Del
DEL
0.461
2--
IKp.K408E
Missense
SNP
0.456
2--
ING4-
-
-
-
4Gain-
INO80Dp.R553C
Missense
SNP
0.537
2--
INSRRp.R1044H
Missense
SNP
0.273
2--
INTS1p.A1379T
Missense
SNP
0.420
2--
INTS13-
-
-
-
4Gain-
IPMKp.I306*
Frame_Shift_Del
DEL
0.521
2--
IPO8-
-
-
-
4Gain-
IQCEp.S622I
Missense
SNP
0.471
2--
IQSEC3-
-
-
-
4Gain-
IRX4p.A93V
Missense
SNP
0.535
2--
ITFG2-
-
-
-
4Gain-
ITPR2-
-
-
-
4Gain-
ITSN1p.K1075Nfs*26
Frame_Shift_Del
DEL
0.473
2--
JAKMIP1p.T512M
Missense
SNP
0.397
2--
KCNA1-
-
-
-
4Gain-
KCNA5-
-
-
-
4Gain-
KCNA6-
-
-
-
4Gain-
KCNB2p.E146Nfs*3
Frame_Shift_Del
DEL
0.451
2--
KCNC3p.P581Rfs*27
Frame_Shift_Del
DEL
0.465
2--
KCNJ8-
-
-
-
4Gain-
KCTD9p.R98W
Missense
SNP
0.667
2--
KDM5A-
-
-
-
4Gain-
KIAA1161p.A494V
Missense
SNP
0.546
NDND-
KIAA1462p.A266T
Missense
SNP
0.456
NDND-
KIAA1551-
-
-
-
4Gain-
KIF6p.L204*
Frame_Shift_Del
DEL
0.473
2--
KLHL13p.R434C
Missense
SNP
0.480
NDND-
KLHL34p.R288Afs*7
Frame_Shift_Del
DEL
0.462
NDND-
KLHL42-
-
-
-
4Gain-
KLRB1-
-
-
-
4Gain-
KLRC1-
-
-
-
4Gain-
KLRC2-
-
-
-
4Gain-
KLRC3-
-
-
-
4Gain-
KLRC4-
-
-
-
4Gain-
KLRC4-KLRK1-
-
-
-
4Gain-
KLRD1-
-
-
-
4Gain-
KLRF1-
-
-
-
4Gain-
KLRF2-
-
-
-
4Gain-
KLRG1-
-
-
-
4Gain-
KLRK1-
-
-
-
4Gain-
KMT2Dp.L4921Wfs*74
Frame_Shift_Del
DEL
0.378
2--
KNDC1p.A173V
Missense
SNP
0.533
2--
KPNA7p.A321T
Missense
SNP
0.554
2--
KRAS-
-
-
-
4Gain-
LAG3-
-
-
-
4Gain-
LBX1p.P239Qfs*56
Frame_Shift_Del
DEL
0.446
2--
LDHB-
-
-
-
4Gain-
LINGO1p.R338C
Missense
SNP
0.442
2--
LLGL2p.R567H
Missense
SNP
0.447
2--
LMNTD1-
-
-
-
4Gain-
LMO3-
-
-
-
4Gain-
LPAR5-
-
-
-
4Gain-
LPCAT3-
-
-
-
4Gain-
LRFN5p.T584M
Missense
SNP
0.443
2--
LRMP-
-
-
-
4Gain-
LRP2p.S450Ffs*3
Frame_Shift_Ins
INS
0.250
2--
LRP6-
-
-
-
4Gain-
LRRC23-
-
-
-
4Gain-
LRRC8Dp.A121T
Missense
SNP
0.500
2--
LRRK2p.T2141M
Missense
SNP
0.471
2--
LRRTM4p.G562S
Missense
SNP
0.542
2--
LRTM2-
-
-
-
4Gain-
LTBP2p.R15W
Missense
SNP
0.493
2--
LTBR-
-
-
-
4Gain-
LYSTp.L1289F
Missense
SNP
0.477
2--
M6PR-
-
-
-
4Gain-
MAGOHB-
-
-
-
4Gain-
MAMDC4p.R369Gfs*174
Frame_Shift_Del
DEL
0.471
2--
MANSC1-
-
-
-
4Gain-
MANSC4-
-
-
-
4Gain-
MAP3K12p.S569Lfs*35
Frame_Shift_Ins
INS
0.290
2--
MAP3K6p.V171I
Missense
SNP
0.516
2--
MASP1p.R288W
Missense
SNP
0.449
2--
MBD3p.E275K
Missense
SNP
0.507
2--
MCCC1p.E425K
Missense
SNP
0.547
2--
MCM6p.A502T
Missense
SNP
0.389
2--
MED21-
-
-
-
4Gain-
MFAP5-
-
-
-
4Gain-
MGAT4Cp.R303H
Missense
SNP
0.428
2--
MGP-
-
-
-
4Gain-
MGST1-
-
-
-
4Gain-
MICAL3p.R1499Gfs*106
Frame_Shift_Del
DEL
0.361
2--
MIS18BP1p.N380Ifs*3
Frame_Shift_Del
DEL
0.559
2--
MLF2-
-
-
-
4Gain-
MROH2Bp.R453M
Missense
SNP
0.563
2--
MRPL51-
-
-
-
4Gain-
MRPS35-
-
-
-
4Gain-
MTPAPp.A219D
Missense
SNP
0.279
2--
MUC16p.S7713Lfs*5
Frame_Shift_Del
DEL
0.506
2--
MYBL1p.N420Tfs*13
Frame_Shift_Del
DEL
0.471
2--
MYCBPAPp.R725W
Missense
SNP
0.446
2--
MYCT1p.F29Sfs*28
Frame_Shift_Del
DEL
0.426
2--
NANOG-
-
-
-
4Gain-
NANOGNB-
-
-
-
4Gain-
NBNp.R466Gfs*18
Frame_Shift_Del
DEL
0.167
2--
NCAPD2-
-
-
-
4Gain-
NCOA3p.R218C
Missense
SNP
0.474
2--
NDST1p.R875Q
Missense
SNP
0.454
2--
NDST3p.F406I
Missense
SNP
0.563
2--
NDUFA9-
-
-
-
4Gain-
NECAP1-
-
-
-
4Gain-
NFATC4p.P88Rfs*69
Frame_Shift_Del
DEL
0.393
2--
NINJ2-
-
-
-
4Gain-
NIPBLp.K603Sfs*11
Frame_Shift_Del
DEL
0.483
2--
NLRP11p.R122C
Missense
SNP
0.457
2--
NOP2-
-
-
-
4Gain-
NOS1p.G676Afs*64
p.P272T
Frame_Shift_Del
Missense
DEL
SNP
0.528
0.497
2--
NR2F2p.A304V
Missense
SNP
0.478
2--
NRAPp.Y1041H
Missense
SNP
0.466
2--
NRIP2-
-
-
-
4Gain-
NSMCE3p.R229*
Nonsense
SNP
0.506
2--
NTF3-
-
-
-
4Gain-
NTRK3p.T283M
Missense
SNP
0.523
2--
OBSCNp.R8923C
Missense
SNP
0.439
2--
ODF3L2p.R193H
Missense
SNP
0.696
2--
OLR1-
-
-
-
4Gain-
OR1C1p.A47V
Missense
SNP
0.497
2--
OR4D5p.R233H
Missense
SNP
0.506
2--
OR52K1p.R153Q
Missense
SNP
0.521
2--
OR6C75p.L200*
Frame_Shift_Del
DEL
0.537
2--
OVCH1-
-
-
-
4Gain-
P3H3-
-
-
-
4Gain-
PAQR5p.R29H
Missense
SNP
0.543
2--
PARP11-
-
-
-
4Gain-
PAX6p.P389Hfs*7
Frame_Shift_Del
DEL
0.415
2--
PCDHA7p.A562T
Missense
SNP
0.460
2--
PCDHB3p.A719V
Missense
SNP
0.417
2--
PCDHGA1p.A696V
Missense
SNP
0.577
2--
PCDHGB3p.R627C
Missense
SNP
0.468
2--
PCMTD1p.R162Q
Missense
SNP
0.264
2--
PCSK7p.A498V
Missense
SNP
0.478
2--
PDE3A-
-
-
-
4Gain-
PDE6H-
-
-
-
4Gain-
PDPRp.R427H
Missense
SNP
0.211
2--
PDS5Ap.E924A
Missense
SNP
0.406
2--
PEX5-
-
-
-
4Gain-
PFN3p.G68Afs*43
Frame_Shift_Del
DEL
0.391
2--
PHACTR4p.K61E
Missense
SNP
0.375
2--
PHAXp.M185Nfs*32
Frame_Shift_Ins
INS
0.321
2--
PHB2-
-
-
-
4Gain-
PHC1-
-
-
-
4Gain-
PIANP-
-
-
-
4Gain-
PIK3C2G-
-
-
-
4Gain-
PIK3CAp.H1047R
Missense
SNP
0.466
2--
PIK3R3p.M295*
Frame_Shift_Del
DEL
0.415
2--
PKP2-
-
-
-
4Gain-
PLBD1-
-
-
-
4Gain-
PLCZ1-
-
-
-
4Gain-
PLEKHA5-
-
-
-
4Gain-
PLEKHG6-
-
-
-
4Gain-
PLK3p.R634H
Missense
SNP
0.530
2--
PLXNB1p.G179Vfs*41
Frame_Shift_Del
DEL
0.493
2--
POLR1Ap.A752V
Missense
SNP
0.069
2--
POLR2Ap.Q529Rfs*32
Frame_Shift_Del
DEL
0.428
2--
POU2F2p.P148H
Missense
SNP
0.445
2--
POU3F2p.S429Vfs*60
Frame_Shift_Del
DEL
0.473
2--
PPFIA2p.A915V
Missense
SNP
0.415
2--
PPFIBP1-
-
-
-
4Gain-
PPP1R13Bp.Q511Sfs*39
Frame_Shift_Del
DEL
0.468
2--
PPP1R3Fp.R562C
Missense
SNP
0.514
NDND-
PPP2R1Ap.R459C
Missense
SNP
0.509
2--
PPRC1p.P1461Hfs*79
Frame_Shift_Del
DEL
0.472
2--
PRB1-
-
-
-
4Gain-
PRB2-
-
-
-
4Gain-
PRB3-
-
-
-
4Gain-
PRB4-
-
-
-
4Gain-
PRH1-
-
-
-
4Gain-
PRH1-PRR4-
-
-
-
4Gain-
PRH2-
-
-
-
4Gain-
PRICKLE2p.M590T
Missense
SNP
0.500
2--
PRLHp.R69*
Nonsense
SNP
0.482
2--
PRMT8-
-
-
-
4Gain-
PRR32p.S14L
Missense
SNP
0.462
NDND-
PRR4-
-
-
-
4Gain-
PSG3p.K47E
Missense
SNP
0.544
2--
PTHLH-
-
-
-
4Gain-
PTMS-
-
-
-
4Gain-
PTPN13p.D291G
Missense
SNP
0.477
2--
PTPN6-
-
-
-
4Gain-
PTPRO-
-
-
-
4Gain-
PYROXD1-
-
-
-
4Gain-
PZP-
-
-
-
4Gain-
RABL6p.A307T
Missense
SNP
0.476
2--
RAD51AP1-
-
-
-
4Gain-
RAD52-
-
-
-
4Gain-
RAPGEF2p.S522Vfs*12
Frame_Shift_Del
DEL
0.541
2--
RASSF8-
-
-
-
4Gain-
RBM27p.K816Nfs*5
Frame_Shift_Del
DEL
0.400
2--
RBP5-
-
-
-
4Gain-
RECQL-
-
-
-
4Gain-
REEP1p.A171T
Missense
SNP
0.630
2--
REP15-
-
-
-
4Gain-
REREp.G92S
Missense
SNP
0.436
2--
RERG-
-
-
-
4Gain-
RERGL-
-
-
-
4Gain-
RGS12p.K1178Nfs*32
Frame_Shift_Del
DEL
0.560
2--
RHNO1-
-
-
-
4Gain-
RHOBTB3p.M230Nfs*7
Frame_Shift_Ins
INS
0.259
2--
RIMKLB-
-
-
-
4Gain-
RNF151p.R131W
Missense
SNP
0.451
2--
RNPC3-
-
-
-
1Loss-
ROCK1p.K1307Nfs*3
Frame_Shift_Del
DEL
0.453
2--
RP1p.P1282Lfs*12
Frame_Shift_Del
DEL
0.412
2--
RPGRp.E1051Kfs*38
Frame_Shift_Del
DEL
0.407
NDND-
RPL17-
-
-
-
2-RPL17--RPL17P12
RPL17P12-
-
-
-
NDNDRPL17--RPL17P12
RPL24p.R157H
Missense
SNP
0.606
2--
RWDD4p.F68Lfs*9
Frame_Shift_Del
DEL
0.400
2--
RYR2p.G4401E
Missense
SNP
0.549
2--
SBF2p.R1132H
Missense
SNP
0.537
2--
SCN2Ap.T90M
Missense
SNP
0.556
2--
SCN9Ap.E433Sfs*36
Frame_Shift_Del
DEL
0.500
2--
SCNN1A-
-
-
-
4Gain-
SCUBE2p.A197T
Missense
SNP
0.518
2--
SDR39U1p.R151H
Missense
SNP
0.489
2--
SEC16Ap.G1417Afs*47
Frame_Shift_Del
DEL
0.511
2--
SEC31Ap.I462Lfs*16
Frame_Shift_Del
DEL
0.915
2--
SETD5p.R618Q
Missense
SNP
0.457
2--
SGK2p.A119V
Missense
SNP
0.414
2--
SHANK3p.A1226Pfs*57
Frame_Shift_Del
DEL
0.403
2--
SINHCAF-
-
-
-
4Gain-
SIPA1L3p.L1294Wfs*199
Frame_Shift_Del
DEL
0.439
2--
SLC12A4p.G427S
Missense
SNP
0.111
2--
SLC15A5-
-
-
-
4Gain-
SLC1A7p.Q188K
Missense
SNP
0.491
2--
SLC24A4p.R95*
Nonsense
SNP
0.502
2--
SLC25A22p.G155Vfs*19
Frame_Shift_Del
DEL
0.528
2--
SLC26A7p.K333Nfs*20
Frame_Shift_Del
DEL
0.485
2--
SLC2A14-
-
-
-
4Gain-
SLC2A2p.R365L
Missense
SNP
0.498
2--
SLC2A3-
-
-
-
4Gain-
SLC6A12-
-
-
-
4Gain-
SLC6A13-
-
-
-
4Gain-
SLC7A13p.S126Afs*20
Frame_Shift_Del
DEL
0.434
2--
SLC9A8p.F182C
Missense
SNP
0.442
2--
SLC9C2p.R203W
Missense
SNP
0.400
2--
SLCO1A2-
-
-
-
4Gain-
SLCO1B1-
-
-
-
4Gain-
SLCO1B3-
-
-
-
4Gain-
SLCO1B7-
-
-
-
4Gain-
SLCO1C1-
-
-
-
4Gain-
SMAD2p.R114C
Missense
SNP
0.512
2--
SMCO2-
-
-
-
4Gain-
SMCO3-
-
-
-
4Gain-
SOX5-
-
-
-
4Gain-
SP8p.R445C
Missense
SNP
0.413
2--
SPERTp.V98M
Missense
SNP
0.489
2--
SPSB2-
-
-
-
4Gain-
SPTBN1p.R523Q
Missense
SNP
0.478
2--
SPTY2D1p.D33Tfs*23
Frame_Shift_Del
DEL
0.088
2--
SPX-
-
-
-
4Gain-
SRCAPp.P1878Hfs*89
Frame_Shift_Del
DEL
0.380
2--
SRGAP2p.A1019T
Missense
SNP
0.500
2--
SRP19p.R74C
Missense
SNP
0.452
2--
SRSF6p.R273*
Nonsense
SNP
0.598
2--
SSPN-
-
-
-
4Gain-
ST8SIA1p.V61Cfs*34
Frame_Shift_Del
DEL
0.231
4Gain-
STK38L-
-
-
-
4Gain-
STRAP-
-
-
-
4Gain-
STYK1-
-
-
-
4Gain-
SUPT3Hp.E221K
Missense
SNP
0.496
2--
SYCE2p.W172*
Nonsense
SNP
0.462
2--
SYNE1p.A5404V
Missense
SNP
0.500
2--
SYNMp.D843N
Missense
SNP
0.485
2--
SYT10-
-
-
-
4Gain-
TAF7Lp.T170Pfs*35
Frame_Shift_Del
DEL
0.315
NDND-
TAPBPL-
-
-
-
4Gain-
TAS2R10-
-
-
-
4Gain-
TAS2R13-
-
-
-
4Gain-
TAS2R14-
-
-
-
4Gain-
TAS2R19-
-
-
-
4Gain-
TAS2R20-
-
-
-
4Gain-
TAS2R30p.A23V
Missense
SNP
0.468
4Gain-
TAS2R31-
-
-
-
4Gain-
TAS2R42-
-
-
-
4Gain-
TAS2R43-
-
-
-
4Gain-
TAS2R46-
-
-
-
4Gain-
TAS2R50-
-
-
-
4Gain-
TAS2R7-
-
-
-
4Gain-
TAS2R8-
-
-
-
4Gain-
TAS2R9-
-
-
-
4Gain-
TBATAp.A194T
Missense
SNP
0.514
2--
TBL1XR1p.W177R
Missense
SNP
0.382
2--
TCHHL1p.N56K
Missense
SNP
0.444
2--
TCP10Lp.G214Vfs*26
Frame_Shift_Del
DEL
0.479
2--
TEAD4-
-
-
-
4Gain-
TEX52-
-
-
-
4Gain-
TGFB1I1p.T62M
Missense
SNP
0.505
2--
TGFBR2p.E239*
Nonsense
SNP
0.452
2--
THAP1p.D192G
Missense
SNP
0.470
2--
THBS4p.A24T
Missense
SNP
0.538
2--
TIGAR-
-
-
-
4Gain-
TIMM50p.R217Q
Missense
SNP
0.504
2--
TLR9p.A164T
Missense
SNP
0.520
2--
TM7SF3-
-
-
-
4Gain-
TMC1p.V537I
Missense
SNP
0.499
2--
TMEM161Bp.R354*
Nonsense
SNP
0.522
2--
TMEM25p.A219V
Missense
SNP
0.577
2--
TMEM52B-
-
-
-
4Gain-
TMEM57p.F102Lfs*47
Frame_Shift_Del
DEL
0.491
NDND-
TMEM79p.R163Pfs*9
Frame_Shift_Ins
INS
0.274
2--
TMEM8Bp.R377H
Missense
SNP
0.502
2--
TMPRSS15p.G391*
Nonsense
SNP
0.078
2--
TMTC1-
-
-
-
4Gain-
TNFRSF1A-
-
-
-
4Gain-
TNIP2p.D4Tfs*60
Frame_Shift_Del
DEL
0.625
2--
TNK2p.P839Rfs*72
Frame_Shift_Del
DEL
0.370
2--
TP53BP2p.V206L
Missense
SNP
0.455
2--
TPI1-
-
-
-
4Gain-
TRAF7p.R316C
Missense
SNP
0.470
2--
TRIM49Bp.R408*
Nonsense
SNP
0.389
2--
TRIM56p.Q373E
Missense
SNP
0.467
2--
TRPM2p.A177Pfs*6
Frame_Shift_Del
DEL
0.438
2--
TRPM5p.Q762Rfs*35
Frame_Shift_Del
DEL
0.483
2--
TRPM8p.R223W
Missense
SNP
0.484
2--
TSHZ3p.L999V
Missense
SNP
0.386
2--
TSPAN11-
-
-
-
4Gain-
TSPAN9-
-
-
-
4Gain-
TTC29p.A431S
Missense
SNP
0.479
2--
TTC39Cp.H227Tfs*31
Frame_Shift_Del
DEL
0.484
2--
TULP3-
-
-
-
4Gain-
TWIST1p.R74C
Missense
SNP
0.538
2--
UBA1p.R558H
Missense
SNP
0.496
NDND-
UFL1p.R660Gfs*17
Frame_Shift_Del
DEL
0.386
2--
URGCPp.V672I
Missense
SNP
0.490
2--
USP5-
-
-
-
4Gain-
VAMP1-
-
-
-
4Gain-
VANGL2p.V477I
Missense
SNP
0.400
2--
VWF-
-
-
-
4Gain-
WBP11-
-
-
-
4Gain-
WDR66p.E1009K
Missense
SNP
0.513
2--
WDR7p.M1489V
Missense
SNP
0.464
2--
WDR74p.A4D
Missense
SNP
0.500
2--
WNK1-
-
-
-
4Gain-
WNT5B-
-
-
-
4Gain-
WWC2p.M206Nfs*9
Frame_Shift_Ins
INS
0.356
2--
XXYLT1p.Q213E
Missense
SNP
0.467
2--
YARS2-
-
-
-
4Gain-
YBX3-
-
-
-
4Gain-
ZBED4p.N148Tfs*5
Frame_Shift_Del
DEL
0.454
2--
ZBTB7Cp.E135Rfs*87
Frame_Shift_Del
DEL
0.486
2--
ZC3H13p.R1007Tfs*2
Frame_Shift_Ins
INS
0.216
2--
ZC3H3p.A786Gfs*146
Frame_Shift_Ins
INS
0.330
2--
ZC3HC1p.G307C
Missense
SNP
0.158
2--
ZFP36L1p.S294Afs*13
Frame_Shift_Del
DEL
0.362
2--
ZFR2p.P188Rfs*239
Frame_Shift_Del
DEL
0.387
2--
ZNF124p.T339Lfs*31
Frame_Shift_Del
DEL
0.282
2--
ZNF276p.G450D
Missense
SNP
0.491
2--
ZNF292p.F1168Lfs*29
Frame_Shift_Del
DEL
0.399
2--
ZNF384-
-
-
-
4Gain-
ZNF438p.R617*
Nonsense
SNP
0.556
2--
ZNF514p.T399Pfs*21
Frame_Shift_Del
DEL
0.362
2--
ZNF726p.N439T
Missense
SNP
0.516
2--
ZNF74p.R631Efs*84
Frame_Shift_Del
DEL
0.467
2--
ZNF835p.P109Q
Missense
SNP
0.482
2--