Colon Cancer: Gene >> GJD2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000290374
Start	34752839:34752839(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.605A>T
AA Mutation	p.Gln202Leu(p.Q202L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000290374
Start	34753089:34753089(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.355G>A
AA Mutation	p.Asp119Asn(p.D119N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000290374
Start	34752678:34752678(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.766T>C
AA Mutation	p.Phe256Leu(p.F256L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000290374
Start	34752611:34752611(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376923298
CDS Mutation	c.833G>A
AA Mutation	p.Arg278His(p.R278H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000290374
Start	34752827:34752827(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.617G>A
AA Mutation	p.Arg206Gln(p.R206Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000290374
Start	34753015:34753015(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.429G>T
AA Mutation	p.Lys143Asn(p.K143N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000290374
Start	34753125:34753125(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.319C>T
AA Mutation	p.Arg107Cys(p.R107C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000290374
Start	34752631:34752631(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.813A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000290374
Start	34752871:34752871(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.573G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000290374
Start	34752481:34752481(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200915359
CDS Mutation	c.963G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000290374
Start	34754465:34754465(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.24G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000290374
Start	34753031:34753031(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.413delG
AA Mutation	p.Gly138AlafsTer13(p.G138Afs*13)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> GJD2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000290374
Start	34752827:34752827(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.617G>A
AA Mutation	p.Arg206Gln(p.R206Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000290374
Start	34752872:34752872(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.572G>A
AA Mutation	p.Arg191Lys(p.R191K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000290374
Start	34752758:34752758(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.686A>G
AA Mutation	p.Tyr229Cys(p.Y229C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript