Colon Cancer: Gene >> SPINT2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000301244
Start	38283662:38283662(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs11548458
CDS Mutation	c.142C>T
AA Mutation	p.Arg48Trp(p.R48W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000301244
Start	38290170:38290170(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.443G>A
AA Mutation	p.Arg148His(p.R148H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301244
Start	38287916:38287916(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.318G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000301244
Start	38283725:38283725(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.209delG
AA Mutation	p.Gly70AlafsTer10(p.G70Afs*10)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> SPINT2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000301244
Start	38290237:38290237(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.510G>T
AA Mutation	p.Lys170Asn(p.K170N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000301244
Start	38290281:38290281(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.553+1delG
Mutation Classification	Splice_Site
Feature Type	Transcript