Colon Cancer: Gene >> GBA3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000508166
Start	22747994:22747994(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.985G>A
AA Mutation	p.Asp329Asn(p.D329N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000508166
Start	22818730:22818730(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1217T>C
AA Mutation	p.Leu406Pro(p.L406P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000508166
Start	22748051:22748051(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1042G>A
AA Mutation	p.Val348Met(p.V348M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000508166
Start	22747505:22747505(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.496G>T
AA Mutation	p.Ala166Ser(p.A166S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000508166
Start	22818908:22818908(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1395T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000508166
Start	22747570:22747570(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.561G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000508166
Start	22818740:22818740(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1227C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000508166
Start	22747915:22747915(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.912delT
AA Mutation	p.Phe304LeufsTer10(p.F304Lfs*10)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	stop_gained
Transcription ID	ENST00000508166
Start	22747427:22747427(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.418G>T
AA Mutation	p.Glu140Ter(p.E140*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	stop_gained
Transcription ID	ENST00000508166
Start	22818764:22818764(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778733949
CDS Mutation	c.1251G>A
AA Mutation	p.Trp417Ter(p.W417*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	stop_gained
Transcription ID	ENST00000508166
Start	22747646:22747646(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201515557
CDS Mutation	c.637C>T
AA Mutation	p.Arg213Ter(p.R213*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	stop_gained;frameshift_variant
Transcription ID	ENST00000508166
Start	22818912:22818913(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1399_1400insATTGACTTTAT
AA Mutation	p.Ala467AspfsTer?(p.A467Dfs*?)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> GBA3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000508166
Start	22747745:22747745(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.736G>A
AA Mutation	p.Ala246Thr(p.A246T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript