Colon Cancer: Gene >> EXTL1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000374280
Start	26031198:26031198(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1168G>A
AA Mutation	p.Ala390Thr(p.A390T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000374280
Start	26033843:26033843(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs115796049
CDS Mutation	c.1666G>A
AA Mutation	p.Ala556Thr(p.A556T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000374280
Start	26029707:26029707(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.981G>T
AA Mutation	p.Gln327His(p.Q327H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000374280
Start	26035172:26035172(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1856G>A
AA Mutation	p.Gly619Glu(p.G619E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000374280
Start	26033260:26033260(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1463T>C
AA Mutation	p.Ile488Thr(p.I488T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000374280
Start	26033754:26033754(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372060207
CDS Mutation	c.1577C>T
AA Mutation	p.Thr526Met(p.T526M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000374280
Start	26033286:26033286(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372706207
CDS Mutation	c.1489G>A
AA Mutation	p.Asp497Asn(p.D497N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000374280
Start	26023292:26023292(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757512284
CDS Mutation	c.646C>T
AA Mutation	p.Arg216Trp(p.R216W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374280
Start	26035255:26035255(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1939T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374280
Start	26023312:26023312(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754732049
CDS Mutation	c.666C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374280
Start	26023264:26023264(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768099208
CDS Mutation	c.618G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374280
Start	26031188:26031188(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1163delC
AA Mutation	p.Pro388GlnfsTer35(p.P388Qfs*35)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> EXTL1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000374280
Start	26035234:26035234(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1918G>A
AA Mutation	p.Ala640Thr(p.A640T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000374280
Start	26033857:26033857(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773867862
CDS Mutation	c.1679+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript