Colon Cancer: Gene >> GPM6A

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000280187
Start	175634936:175634936(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs116256200
CDS Mutation	c.806G>A
AA Mutation	p.Arg269His(p.R269H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000280187
Start	175701620:175701620(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.185T>C
AA Mutation	p.Phe62Ser(p.F62S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000280187
Start	175634925:175634925(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.817C>T
AA Mutation	p.Arg273Trp(p.R273W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000280187
Start	175651858:175651858(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.517C>A
AA Mutation	p.Leu173Ile(p.L173I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000280187
Start	175812219:175812219(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9G>T
AA Mutation	p.Glu3Asp(p.E3D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000280187
Start	175673809:175673809(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747238866
CDS Mutation	c.258C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000280187
Start	175701631:175701631(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.174G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000280187
Start	175812204:175812204(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.24A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000280187
Start	175701592:175701592(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.213A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000280187
Start	175701734:175701734(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.71delG
AA Mutation	p.Gly24AlafsTer7(p.G24Afs*7)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	stop_gained
Transcription ID	ENST00000280187
Start	175634994:175634994(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.748A>T
AA Mutation	p.Lys250Ter(p.K250*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000280187
Start	175651913:175651914(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.461_462insCTCTGTGGTAGAAAAG
AA Mutation	p.Met154IlefsTer48(p.M154Ifs*48)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> GPM6A

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000280187
Start	175651887:175651887(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs553518576
CDS Mutation	c.488G>A
AA Mutation	p.Arg163Gln(p.R163Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000280187
Start	175651835:175651835(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.540T>A
AA Mutation	p.Phe180Leu(p.F180L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000280187
Start	175812219:175812219(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9G>T
AA Mutation	p.Glu3Asp(p.E3D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript