Colon Cancer: Gene >> BACE1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000313005
Start	117295333:117295333(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138138981
CDS Mutation	c.365G>A
AA Mutation	p.Arg122Gln(p.R122Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000313005
Start	117296898:117296898(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.325C>A
AA Mutation	p.Leu109Met(p.L109M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000313005
Start	117315548:117315548(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.248G>A
AA Mutation	p.Ser83Asn(p.S83N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000313005
Start	117289613:117289613(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138644093
CDS Mutation	c.1459C>T
AA Mutation	p.Arg487Cys(p.R487C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000313005
Start	117290984:117290984(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1008C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000313005
Start	117290627:117290627(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs75519595
CDS Mutation	c.1125G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000313005
Start	117293912:117293912(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.664delC
AA Mutation	p.Leu222SerfsTer14(p.L222Sfs*14)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000313005
Start	117296907:117296907(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.316delC
AA Mutation	p.His106ThrfsTer41(p.H106Tfs*41)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> BACE1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000313005
Start	117289613:117289613(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138644093
CDS Mutation	c.1459C>T
AA Mutation	p.Arg487Cys(p.R487C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	stop_gained
Transcription ID	ENST00000313005
Start	117290593:117290593(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1159C>T
AA Mutation	p.Gln387Ter(p.Q387*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript