PDMR-381249~077-R~GFK-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
ABL1p.P937L
Missense
SNP
0.486
2-ND
AC007326.4-
-
-
-
1LossND
AC093668.1-
-
-
-
0DelND
AC093668.2-
-
-
-
0DelND
AC093668.3-
-
-
-
0DelND
AC105052.1-
-
-
-
0DelND
AC105052.3-
-
-
-
0DelND
ACVR1p.R375H
Missense
SNP
0.494
2-ND
ADAM29p.R723H
Missense
SNP
0.520
2-ND
ADD1p.V585I
Missense
SNP
0.573
2-ND
AL445238.1-
-
-
-
3GainND
AL445989.1-
-
-
-
3GainND
ALPG-
-
-
-
0DelND
ALPP-
-
-
-
0DelND
ARGFX-
-
-
-
3GainND
ARMC2p.A231V
Missense
SNP
0.172
2-ND
ARSFp.A112P
Missense
SNP
0.432
NDNDND
ATRIPp.C487Y
Missense
SNP
0.519
2-ND
AUP1p.R227C
Missense
SNP
0.430
2-ND
B3GNT6p.G221D
Missense
SNP
0.537
2-ND
B4GALNT4p.V625M
Missense
SNP
0.426
2-ND
BCL9p.R371C
Missense
SNP
0.520
2-ND
BICC1p.K156*
Nonsense
SNP
0.467
2-ND
BRINP3p.R159*
Nonsense
SNP
0.407
2-ND
BRPF3p.R897C
Missense
SNP
0.522
2-ND
BSNDp.D3N
Missense
SNP
0.468
2-ND
C12orf42p.P244L
Missense
SNP
0.580
2-ND
C4A-
-
-
-
1LossND
C4B-
-
-
-
1LossND
C6orf47p.P214L
Missense
SNP
0.496
2-ND
CASS4p.S232N
Missense
SNP
0.500
2-ND
CCDC115-
-
-
-
1LossND
CCDC39p.R214C
Missense
SNP
0.568
2-ND
CCDC53p.T37I
Missense
SNP
0.474
NDNDND
CCDC74B-
-
-
-
1LossND
CCDC77p.X348_splice
Splice_Site
SNP
0.606
2-ND
CD93p.V32M
Missense
SNP
0.641
2-ND
CDC73p.V445I
Missense
SNP
0.573
2-ND
CHADLp.R708S
Missense
SNP
0.523
2-ND
CHL1p.G874E
Missense
SNP
0.414
2-ND
CILP2p.G779D
Missense
SNP
0.489
2-ND
CIZ1p.R740*
Nonsense
SNP
0.516
2-ND
CLEC14Ap.R161*
Nonsense
SNP
0.442
2-ND
CSADp.R204C
Missense
SNP
0.514
2-ND
CYP21A2-
-
-
-
1LossND
CYP2A7p.M18V
Missense
SNP
0.155
2-ND
DACH1-
-
-
-
3GainND
DDX54p.I393V
Missense
SNP
0.541
2-ND
DEFB103A-
-
-
-
1LossND
DEFB103B-
-
-
-
1LossND
DEFB104A-
-
-
-
1LossND
DEFB104B-
-
-
-
1LossND
DEFB105A-
-
-
-
1LossND
DEFB105B-
-
-
-
1LossND
DEFB106A-
-
-
-
1LossND
DEFB106B-
-
-
-
1LossND
DEFB107A-
-
-
-
1LossND
DEFB107B-
-
-
-
1LossND
DEFB4A-
-
-
-
1LossND
DEFB4B-
-
-
-
1LossND
DGCR6-
-
-
-
1LossND
DNAJC18p.A3V
Missense
SNP
0.492
2-ND
DSCAML1p.T1105M
p.A917T
Missense
Missense
SNP
SNP
0.631
0.497
2-ND
ELFN2p.R739H
Missense
SNP
0.440
2-ND
EP300p.T524M
Missense
SNP
0.115
2-ND
ERC2p.A835T
Missense
SNP
0.439
2-ND
FAM110Dp.P79L
Missense
SNP
0.505
2-ND
FAM185A-
-
-
-
0DelND
FAT4p.I3286M
Missense
SNP
0.472
2-ND
FBXL13-
-
-
-
0DelND
FBXO40-
-
-
-
3GainND
FLGp.G2251*
Nonsense
SNP
0.488
2-ND
FLRT2-
-
-
-
3GainND
GLRA4p.R106H
Missense
SNP
0.566
NDNDND
GLT8D1-
-
-
-
3GainND
GNL3-
-
-
-
3GainND
GOLGB1-
-
-
-
3GainND
GPC5-
-
-
-
3GainND
GPC6-
-
-
-
3GainND
GUF1p.R631Q
Missense
SNP
0.486
2-ND
HCLS1-
-
-
-
3GainND
HERC1p.D2781N
Missense
SNP
0.228
2-ND
HRNRp.H893Q
Missense
SNP
0.452
2-ND
HYOU1p.R98S
Missense
SNP
0.580
2-ND
IFT140p.E790K
Missense
SNP
0.436
2-ND
IMP4-
-
-
-
1LossND
IQCB1-
-
-
-
3GainND
IREB2p.R51*
Nonsense
SNP
0.488
2-ND
KANK4p.R219Q
Missense
SNP
0.473
2-ND
KCNA7p.A262T
Missense
SNP
0.501
2-ND
KCTD18p.P383L
Missense
SNP
0.524
2-ND
KIAA1024p.P754L
Missense
SNP
0.516
2-ND
KIF13Bp.R306S
Missense
SNP
0.489
2-ND
KLHL1-
-
-
-
3GainND
KRASp.G13D
Missense
SNP
0.421
2-ND
KRT10p.R370H
Missense
SNP
0.459
2-ND
LRP12p.R746*
Nonsense
SNP
0.490
2-ND
LRRTM1p.A395V
Missense
SNP
0.475
2-ND
LTN1p.A211T
Missense
SNP
0.472
2-ND
MAGEL2p.R899C
Missense
SNP
0.461
2-ND
MARCH7p.T36S
Missense
SNP
0.406
2-ND
MAXp.H28R
Missense
SNP
0.400
2-ND
MED12p.R1627C
Missense
SNP
0.486
NDNDND
MIS18BP1p.R237Q
Missense
SNP
0.514
2-ND
MISPp.A196V
Missense
SNP
0.476
2-ND
MRPL11p.R154C
Missense
SNP
0.518
2-ND
MUC17p.R2342C
Missense
SNP
0.528
2-ND
MZT2B-
-
-
-
1LossND
NEK4-
-
-
-
3GainND
NPHP3p.N123K
Missense
SNP
0.482
2-ND
NTNG1-
-
-
-
3GainND
NUP205p.R1990*
Nonsense
SNP
0.462
2-ND
OBSCNp.A470T
Missense
SNP
0.541
2-ND
OR4K5p.S6Y
Missense
SNP
0.546
2-ND
PABPC4L-
-
-
-
3GainND
PAGE1p.R11H
Missense
SNP
0.485
NDNDND
PARP3p.R415C
Missense
SNP
0.336
2-ND
PCDH10-
-
-
-
3GainND
PCDH17-
-
-
-
3GainND
PCDH18-
-
-
-
3GainND
PCDH7-
-
-
-
3GainND
PCDH9-
-
-
-
3GainND
PCIF1p.E200K
Missense
SNP
0.402
2-ND
PDE6Bp.A471T
Missense
SNP
0.572
2-ND
PEG10p.A205V
Missense
SNP
0.187
2-ND
PIK3R1p.R358*
p.X582_splice
Nonsense
Splice_Site
SNP
SNP
0.518
0.541
2-ND
PLOD1p.H225R
Missense
SNP
0.636
2-ND
PODXLp.V107M
Missense
SNP
0.507
2-ND
POLR2J2-
-
-
-
0DelND
POLR2J3-
-
-
-
0DelND
PPFIBP2p.R110C
Missense
SNP
0.394
2-ND
PPM1Fp.R167H
Missense
SNP
0.525
2-ND
PRAG1-
-
-
-
1LossND
PRMT6-
-
-
-
3GainND
PRODH-
-
-
-
1LossND
PRR23D1-
-
-
-
1LossND
PRR23D2-
-
-
-
1LossND
PTPN18-
-
-
-
1LossND
PTPRDp.P1257L
Missense
SNP
0.525
2-ND
PTPRSp.A918V
Missense
SNP
0.477
2-ND
PTRFp.E188K
Missense
SNP
0.500
NDNDND
RAB11FIP1p.A413S
Missense
SNP
0.461
2-ND
RAB6C-
-
-
-
1LossND
RASA4-
-
-
-
0DelND
RASA4B-
-
-
-
0DelND
REV1p.S504L
Missense
SNP
0.180
2-ND
RGPD1-
-
-
-
0DelND
RGPD2-
-
-
-
0DelND
RNF214p.R482H
Missense
SNP
0.461
2-ND
RP1p.R193H
Missense
SNP
0.484
2-ND
RSAD1p.R396Q
Missense
SNP
0.551
2-ND
SERPINF2p.G68*
Nonsense
SNP
0.509
2-ND
SETD2p.R540Q
Missense
SNP
0.487
2-ND
SH2D3Cp.A443S
Missense
SNP
0.447
2-ND
SI-
-
-
-
3GainND
SKIp.A540V
Missense
SNP
0.563
2-ND
SLC22A8p.R50C
Missense
SNP
0.522
2-ND
SLC38A5p.R339H
Missense
SNP
0.429
NDNDND
SLC45A3p.P309L
Missense
SNP
0.379
2-ND
SLC7A11-
-
-
-
3GainND
SLCO1A2p.E297K
Missense
SNP
0.529
2-ND
SLITRK1-
-
-
-
3GainND
SLITRK5-
-
-
-
3GainND
SLITRK6-
-
-
-
3GainND
SMPD4-
-
-
-
1LossND
SOX3p.R22W
Missense
SNP
0.486
NDNDND
SPAG11A-
-
-
-
1LossND
SPAG11B-
-
-
-
1LossND
SPATA31D1-
-
-
-
1LossND
SPATA31D3-
-
-
-
1LossND
SPATA31D4-
-
-
-
1LossND
SPCS1-
-
-
-
3GainND
SULT1B1-
-
-
-
1LossND
TAF1p.G1292E
Missense
SNP
0.497
NDNDND
TCEB3Bp.R235C
Missense
SNP
0.508
NDNDND
TMEM132Dp.R853W
Missense
SNP
0.507
2-ND
TMEM178Ap.A141T
Missense
SNP
0.453
2-ND
TMEM191B-
-
-
-
1LossND
TMEM218p.V12M
Missense
SNP
0.488
2-ND
TNXB-
-
-
-
1LossND
TOR4Ap.A208V
Missense
SNP
0.448
2-ND
TRIM52p.C227*
Nonsense
SNP
0.503
2-ND
TRIM56p.R212Q
Missense
SNP
0.121
2-ND
TSHZ1p.E80K
Missense
SNP
0.137
2-ND
TUBA3E-
-
-
-
1LossND
TUBAL3p.V216I
Missense
SNP
0.457
2-ND
UBASH3Bp.E436K
Missense
SNP
0.472
2-ND
UGT2A1-
-
-
-
1LossND
UGT2A2-
-
-
-
1LossND
UGT2A3-
-
-
-
1LossND
UGT2B10-
-
-
-
1LossND
UGT2B11-
-
-
-
1LossND
UGT2B15-
-
-
-
1LossND
UGT2B17-
-
-
-
1LossND
UGT2B28-
-
-
-
1LossND
UGT2B4-
-
-
-
1LossND
UGT2B7-
-
-
-
1LossND
UNC13Bp.R1085C
Missense
SNP
0.524
2-ND
UNC5CLp.R244H
Missense
SNP
0.492
2-ND
UPK3BL1-
-
-
-
0DelND
UROC1p.G72R
Missense
SNP
0.519
2-ND
USP17L1-
-
-
-
1LossND
USP17L3-
-
-
-
1LossND
USP17L4-
-
-
-
1LossND
USP17L8-
-
-
-
1LossND
VPS13Cp.N23S
Missense
SNP
0.505
2-ND
ZBP1p.R109W
Missense
SNP
0.481
2-ND
ZC3H7Ap.L389V
Missense
SNP
0.583
2-ND
ZFP36L2p.C299Y
Missense
SNP
0.487
2-ND
ZNF169p.R549C
Missense
SNP
0.493
2-ND
ZWINT-
-
-
-
3GainND