Colon Cancer: Gene >> DEF6

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000316637
Start	35312447:35312447(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761408118
CDS Mutation	c.569C>T
AA Mutation	p.Ser190Leu(p.S190L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000316637
Start	35312671:35312671(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769622016
CDS Mutation	c.706C>T
AA Mutation	p.Arg236Cys(p.R236C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000316637
Start	35321349:35321349(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1835A>C
AA Mutation	p.Glu612Ala(p.E612A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000316637
Start	35312467:35312467(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200254432
CDS Mutation	c.589G>A
AA Mutation	p.Val197Met(p.V197M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000316637
Start	35319664:35319664(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1356A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000316637
Start	35297937:35297937(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.81C>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000316637
Start	35321403:35321403(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1892delA
AA Mutation	p.Asn631IlefsTer5(p.N631Ifs*5)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000316637
Start	35321298:35321298(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1788delC
AA Mutation	p.Ser597ArgfsTer39(p.S597Rfs*39)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	stop_gained
Transcription ID	ENST00000316637
Start	35319674:35319674(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1366C>T
AA Mutation	p.Arg456Ter(p.R456*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> DEF6

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000316637
Start	35319875:35319875(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1439A>G
AA Mutation	p.Gln480Arg(p.Q480R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000316637
Start	35319879:35319879(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1443G>A
Mutation Classification	Silent
Feature Type	Transcript