Colon Cancer: Gene >> C1GALT1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000223122
Start	7243602:7243602(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.967G>A
AA Mutation	p.Val323Ile(p.V323I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000223122
Start	7238915:7238915(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.881C>A
AA Mutation	p.Pro294His(p.P294H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000223122
Start	7238837:7238837(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.803C>A
AA Mutation	p.Pro268His(p.P268H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000223122
Start	7238789:7238789(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.755T>C
AA Mutation	p.Val252Ala(p.V252A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000223122
Start	7243584:7243584(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.949T>C
AA Mutation	p.Tyr317His(p.Y317H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000223122
Start	7238550:7238550(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138478625
CDS Mutation	c.516G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000223122
Start	7238685:7238685(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.651A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000223122
Start	7238580:7238580(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.546T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000223122
Start	7238706:7238706(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.672T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000223122
Start	7234419:7234420(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.101_102insATTA
AA Mutation	p.Val35LeufsTer3(p.V35Lfs*3)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000223122
Start	7234421:7234422(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.102_103insCAGGAT
AA Mutation	p.Lys34_Val35insGlnAsp(p.K34_V35insQD)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> C1GALT1

Mutation ID	1
Mutation Consequence	stop_gained
Transcription ID	ENST00000223122
Start	7243598:7243598(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.963C>G
AA Mutation	p.Tyr321Ter(p.Y321*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript