PDMR-283339~068-R~GEXUJ4-P1

Variant Type	Calling Status
Mutations	Called
Copy number	Called
Fusions	Called

Gene	Somatic Mutations	Classification	Type	VAF	Somatic Copy Number	CN status	Fusions
ACVRL1	p.R145Q	Missense	SNP	0.487	2	-	-
ADAR	p.S915P	Missense	SNP	0.494	2	-	-
AL117348.2	-	-	-	-	1	Loss	-
ANAPC7	p.A6D	Missense	SNP	0.510	2	-	-
ANTXRL	p.S129L	Missense	SNP	0.504	2	-	-
AP5B1	p.G299R	Missense	SNP	0.573	2	-	-
ATP13A4	p.N926I	Missense	SNP	0.558	2	-	-
ATP4B	p.C21Y	Missense	SNP	0.477	2	-	-
BMP4	p.P148H	Missense	SNP	0.524	2	-	-
BRINP3	-	-	-	-	3	Gain	-
CARNS1	p.V866M	Missense	SNP	0.530	2	-	-
CBS	-	-	-	-	3	Gain	-
CBSL	-	-	-	-	3	Gain	-
CEP112	p.R253C	Missense	SNP	0.552	2	-	-
CHPF	p.H332Y	Missense	SNP	0.417	2	-	-
CKMT1B	-	-	-	-	3	Gain	-
CMIP	p.L148R	Missense	SNP	0.441	2	-	-
CNTNAP2	-	-	-	-	5	Amp	-
CPAMD8	p.A664T	Missense	SNP	0.538	2	-	-
CRYAA	-	-	-	-	3	Gain	-
CRYAA2	-	-	-	-	3	Gain	-
CTNNA1	p.A363G	Missense	SNP	0.459	2	-	-
DCAF8	p.D476G	Missense	SNP	0.600	2	-	-
DCDC2C	p.A40T	Missense	SNP	0.509	2	-	-
DEFB103A	-	-	-	-	3	Gain	-
DEFB103B	-	-	-	-	3	Gain	-
DEFB104A	-	-	-	-	3	Gain	-
DEFB104B	-	-	-	-	3	Gain	-
DEFB105A	-	-	-	-	3	Gain	-
DEFB105B	-	-	-	-	3	Gain	-
DEFB106A	-	-	-	-	3	Gain	-
DEFB106B	-	-	-	-	3	Gain	-
DEFB107A	-	-	-	-	3	Gain	-
DEFB107B	-	-	-	-	3	Gain	-
DHX58	p.F662L	Missense	SNP	0.521	2	-	-
DOCK2	p.K494E	Missense	SNP	0.522	2	-	-
DUOX2	p.R1424H	Missense	SNP	0.543	2	-	-
EIF2AK4	p.X896_splice	Splice_Site	SNP	0.375	2	-	-
EIF2B5	p.G369D	Missense	SNP	0.557	2	-	-
EPHX1	-	-	-	-	1	Loss	-
FAM172A	p.G370C	Missense	SNP	0.409	2	-	-
FAM243B	-	-	-	-	3	Gain	-
FAM47A	p.S461F	Missense	SNP	0.469	ND	ND	-
FP565260.1	-	-	-	-	3	Gain	-
FP565260.2	-	-	-	-	3	Gain	-
FP565260.3	-	-	-	-	3	Gain	-
FP565260.4	-	-	-	-	3	Gain	-
FP565260.6	-	-	-	-	3	Gain	-
GATD3B	-	-	-	-	3	Gain	-
GGNBP2	p.S414N	Missense	SNP	0.509	2	-	-
GLT1D1	p.H12L	Missense	SNP	0.486	2	-	-
GPR3	p.V240M	Missense	SNP	0.519	2	-	-
GRID2IP	p.F719S	Missense	SNP	0.485	2	-	-
H2BFS	-	-	-	-	3	Gain	-
HAPLN4	p.R203C	Missense	SNP	0.469	2	-	-
HSF2BP	-	-	-	-	3	Gain	-
ITIH5	p.Q606L	Missense	SNP	0.506	2	-	-
ITPA	-	-	-	-	2	-	ITPA--SNHG3
JAK3	p.A518V	Missense	SNP	0.526	2	-	-
KCNE1B	-	-	-	-	3	Gain	-
KMT2B	p.E663*	Nonsense	SNP	0.455	2	-	-
KRT34	p.Q299R	Missense	SNP	0.574	2	-	-
LEFTY1	-	-	-	-	1	Loss	-
LPCAT1	p.R104H	Missense	SNP	0.569	2	-	-
MAGEL2	p.N7I	Missense	SNP	0.375	2	-	-
MED22	p.A66T	Missense	SNP	0.579	2	-	-
MEX3D	p.P537L	Missense	SNP	0.435	2	-	-
MUC3A	p.C128W	Missense	SNP	0.238	2	-	-
MYT1L	p.S1019N	Missense	SNP	0.563	2	-	-
NBPF14	-	-	-	-	3	Gain	-
NBPF20	-	-	-	-	5	Amp	-
NEUROG3	p.G157R	Missense	SNP	0.436	ND	ND	-
NKX2-4	p.G284S	Missense	SNP	0.318	2	-	-
NOS2	p.S1119N	Missense	SNP	0.529	2	-	-
NPTX2	p.R103H	Missense	SNP	0.604	2	-	-
NSD1	p.W1280*	Nonsense	SNP	0.450	2	-	-
NUDT4B	-	-	-	-	3	Gain	-
OR13C8	p.N172K	Missense	SNP	0.431	2	-	-
PCDH7	-	-	-	-	3	Gain	-
PDE2A	p.R108W	Missense	SNP	0.417	2	-	-
PDE4DIP	-	-	-	-	3	Gain	-
PIK3CA	p.H1047R	Missense	SNP	0.996	2	-	-
PKNOX1	-	-	-	-	3	Gain	-
PLA2G4A	-	-	-	-	3	Gain	-
PLCD3	p.A23S	Missense	SNP	0.656	2	-	-
PLEKHG4	p.Q1179H	Missense	SNP	0.473	2	-	-
PPIG	-	-	-	-	2	-	PPIG--RNA5-8SN2
PRR23D1	-	-	-	-	3	Gain	-
PRR23D2	-	-	-	-	3	Gain	-
PTGER4	p.R256C	Missense	SNP	0.424	2	-	-
PYCR2	-	-	-	-	1	Loss	-
RAB26	p.P38L	Missense	SNP	0.524	2	-	-
RAPGEF4	p.L844F	Missense	SNP	0.500	2	-	-
RGS1	-	-	-	-	3	Gain	-
RGS13	-	-	-	-	3	Gain	-
RGS18	-	-	-	-	3	Gain	-
RGS2	-	-	-	-	3	Gain	-
RGS21	-	-	-	-	3	Gain	-
RNA5-8SN2	-	-	-	-	ND	ND	PPIG--RNA5-8SN2
RREB1	p.K1183E	Missense	SNP	0.553	2	-	-
RSPH6A	p.F362S	Missense	SNP	0.470	2	-	-
RYR2	p.N4787I	Missense	SNP	0.667	2	-	-
SART3	p.L144S	Missense	SNP	0.548	2	-	-
SCAF11	p.A1390P	Missense	SNP	0.538	2	-	-
SCRT1	p.A33T	Missense	SNP	0.451	2	-	-
SERPINA7	p.I387N	Missense	SNP	0.477	ND	ND	-
SF3A3	p.K29E	Missense	SNP	0.592	2	-	-
SF3B3	-	-	-	-	2	-	SF3B3--UBB
SFXN3	p.L260P	Missense	SNP	0.549	2	-	-
SIK1	-	-	-	-	3	Gain	-
SIK1B	-	-	-	-	3	Gain	-
SLC25A3	p.A176T	Missense	SNP	0.448	2	-	-
SMARCD2	p.R118H	Missense	SNP	0.500	2	-	-
SMIM11B	-	-	-	-	3	Gain	-
SMIM34B	-	-	-	-	3	Gain	-
SNHG3	-	-	-	-	ND	ND	ITPA--SNHG3
SP8	p.F48S	Missense	SNP	0.425	2	-	-
SPAG11A	-	-	-	-	3	Gain	-
SPAG11B	-	-	-	-	3	Gain	-
SPATA31D3	-	-	-	-	1	Loss	-
SPATA31D4	-	-	-	-	1	Loss	-
TCEAL1	p.T18I	Missense	SNP	0.385	ND	ND	-
TMEM63A	-	-	-	-	1	Loss	-
TPTE	-	-	-	-	3	Gain	-
U2AF1	-	-	-	-	3	Gain	-
U2AF1L5	-	-	-	-	3	Gain	-
UBB	-	-	-	-	2	-	SF3B3--UBB
USP35	p.L39M	Missense	SNP	0.463	2	-	-
VPS13D	p.E224D p.G2649*	Missense Nonsense	SNP SNP	0.419 0.436	2	-	-
VPS37B	p.E122G	Missense	SNP	0.548	2	-	-
ZNF227	p.R540*	Nonsense	SNP	0.509	2	-	-
ZNF358	p.R161C	Missense	SNP	0.583	2	-	-
ZNF384	p.A82E	Missense	SNP	0.523	2	-	-
ZNF407	p.A1672T	Missense	SNP	0.353	2	-	-
ZNF726	p.V47I	Missense	SNP	0.493	2	-	-