PDMR-283339~068-R~GEY-P0

Variant Type	Calling Status
Mutations	Called
Copy number	Called
Fusions	Called

Gene	Somatic Mutations	Classification	Type	VAF	Somatic Copy Number	CN status	Fusions
ACTR8	p.H183Y	Missense	SNP	0.559	ND	ND	-
ACVRL1	p.R145Q	Missense	SNP	0.531	2	-	-
AP5B1	p.G299R	Missense	SNP	0.482	2	-	-
APC	p.R564*	Nonsense	SNP	0.431	2	-	-
ATP13A4	p.N926I	Missense	SNP	0.404	2	-	-
ATP4B	p.C21Y	Missense	SNP	0.571	2	-	-
B3GALT2	-	-	-	-	3	Gain	-
BRINP3	-	-	-	-	3	Gain	-
C2orf16	p.T1058I	Missense	SNP	0.521	2	-	-
CBS	-	-	-	-	3	Gain	-
CBSL	-	-	-	-	3	Gain	-
CCNG1	-	-	-	-	3	Gain	-
CDC73	-	-	-	-	3	Gain	-
CMIP	p.L148R	Missense	SNP	0.439	2	-	-
CNTNAP2	-	-	-	-	5	Amp	-
CRYAA	-	-	-	-	3	Gain	-
CRYAA2	-	-	-	-	3	Gain	-
CSMD1	p.C3562Y	Missense	SNP	0.462	2	-	-
CYP2D6	p.T393R	Missense	SNP	0.508	2	-	-
DCAF8	p.D476G	Missense	SNP	0.565	2	-	-
DCDC2C	p.A40T	Missense	SNP	0.517	2	-	-
DOCK2	p.K494E	Missense	SNP	0.468	2	-	-
DUOX2	p.R1424H	Missense	SNP	0.560	2	-	-
ESX1	p.P323T	Missense	SNP	0.103	ND	ND	-
FAM243B	-	-	-	-	3	Gain	-
FAM47A	p.S461F	Missense	SNP	0.391	ND	ND	-
FKBP3	-	-	-	-	2	-	FKBP3--RNA5-8SN2
FP565260.1	-	-	-	-	3	Gain	-
FP565260.2	-	-	-	-	3	Gain	-
FP565260.3	-	-	-	-	3	Gain	-
FP565260.4	-	-	-	-	3	Gain	-
FP565260.6	-	-	-	-	3	Gain	-
GABRA1	-	-	-	-	3	Gain	-
GABRA6	-	-	-	-	3	Gain	-
GABRG2	-	-	-	-	3	Gain	-
GATD3B	-	-	-	-	3	Gain	-
GLRX2	-	-	-	-	3	Gain	-
GLT1D1	p.H12L	Missense	SNP	0.483	2	-	-
GRHL2	p.G588D	Missense	SNP	0.435	2	-	-
GRID2IP	p.F719S	Missense	SNP	0.500	2	-	-
H2BFS	-	-	-	-	3	Gain	-
HIST1H2BI	-	-	-	-	2	-	RNA5-8SN2--HIST1H2BI
HMMR	-	-	-	-	3	Gain	-
HSP90AA1	-	-	-	-	2	-	HSP90AA1--RNA5-8SN2
KCND1	p.R49Q	Missense	SNP	0.106	ND	ND	-
KCNE1B	-	-	-	-	3	Gain	-
KRT34	p.Q299R	Missense	SNP	0.570	2	-	-
MAT2B	-	-	-	-	3	Gain	-
MBOAT2	p.S48*	Nonsense	SNP	0.542	2	-	-
MED22	p.A66T	Missense	SNP	0.519	2	-	-
MPZL1	-	-	-	-	2	-	MPZL1--RNA5-8SN2
NBPF14	-	-	-	-	3	Gain	-
NBPF20	-	-	-	-	3	Gain	-
NKX2-4	p.G284S	Missense	SNP	0.469	2	-	-
NUDCD2	-	-	-	-	3	Gain	-
NUDT4B	-	-	-	-	3	Gain	-
OR13C8	p.N172K	Missense	SNP	0.478	2	-	-
OR4K13	p.E2Q	Missense	SNP	0.511	2	-	-
PCDH7	-	-	-	-	3	Gain	-
PCDHB12	p.R530H	Missense	SNP	0.333	2	-	-
PDE2A	p.R108W	Missense	SNP	0.524	2	-	-
PDE4DIP	-	-	-	-	3	Gain	-
PHLPP2	p.A809T	Missense	SNP	0.614	2	-	-
PIK3CA	p.H1047R	Missense	SNP	0.996	2	-	-
PKNOX1	-	-	-	-	3	Gain	-
PLA2G4A	-	-	-	-	3	Gain	-
PLCD3	p.A23S	Missense	SNP	0.393	2	-	-
PTGER4	p.R256C	Missense	SNP	0.441	2	-	-
PTPRH	p.M394V	Missense	SNP	0.471	2	-	-
RAB26	p.P38L	Missense	SNP	0.618	2	-	-
RGPD1	-	-	-	-	0	Del	-
RGPD2	-	-	-	-	0	Del	-
RGS1	-	-	-	-	3	Gain	-
RGS13	-	-	-	-	3	Gain	-
RGS18	-	-	-	-	3	Gain	-
RGS2	-	-	-	-	3	Gain	-
RGS21	-	-	-	-	3	Gain	-
RIMS3	p.T87M	Missense	SNP	0.608	2	-	-
RNA5-8SN2	-	-	-	-	ND	ND	MPZL1--RNA5-8SN2 RNA5-8SN2--HIST1H2BI FKBP3--RNA5-8SN2 HSP90AA1--RNA5-8SN2
RSPH6A	p.F362S	Missense	SNP	0.457	2	-	-
SCAF11	p.A1390P	Missense	SNP	0.464	2	-	-
SCRT1	p.A33T	Missense	SNP	0.516	2	-	-
SEMA3C	p.A668V	Missense	SNP	0.514	2	-	-
SF3A3	p.K29E	Missense	SNP	0.495	2	-	-
SFXN3	p.L260P	Missense	SNP	0.441	2	-	-
SIK1	-	-	-	-	3	Gain	-
SIK1B	-	-	-	-	3	Gain	-
SIPA1L1	p.Y334H	Missense	SNP	0.457	2	-	-
SLC2A5	p.X367_splice	Splice_Site	SNP	0.375	2	-	-
SMIM11B	-	-	-	-	3	Gain	-
SMIM34B	-	-	-	-	3	Gain	-
SOX1	p.A203V	Missense	SNP	0.619	2	-	-
SPATA31D3	-	-	-	-	1	Loss	-
SPATA31D4	-	-	-	-	1	Loss	-
SYT7	p.Q225*	Nonsense	SNP	0.206	2	-	-
TCEAL1	p.T18I	Missense	SNP	0.406	ND	ND	-
TPTE	-	-	-	-	3	Gain	-
TRH	p.R61Q	Missense	SNP	0.549	2	-	-
TROVE2	-	-	-	-	3	Gain	-
U2AF1	-	-	-	-	3	Gain	-
U2AF1L5	-	-	-	-	3	Gain	-
UCHL5	-	-	-	-	3	Gain	-
VPS13D	p.G2649*	Nonsense	SNP	0.545	2	-	-
VPS37B	p.E122G	Missense	SNP	0.516	2	-	-
ZNF227	p.R540*	Nonsense	SNP	0.451	2	-	-
ZNF384	p.A82E	Missense	SNP	0.448	2	-	-
ZNF407	p.A1672T	Missense	SNP	0.553	2	-	-
ZNF726	p.V47I	Missense	SNP	0.493	ND	ND	-