Colon Cancer: Gene >> EXT1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000378204
Start	117812934:117812934(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1660G>A
AA Mutation	p.Asp554Asn(p.D554N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000378204
Start	117812948:117812948(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1646G>A
AA Mutation	p.Arg549His(p.R549H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000378204
Start	118110739:118110739(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.308G>A
AA Mutation	p.Cys103Tyr(p.C103Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000378204
Start	118110254:118110254(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.793G>A
AA Mutation	p.Val265Ile(p.V265I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000378204
Start	118110505:118110505(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.542T>C
AA Mutation	p.Leu181Pro(p.L181P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000378204
Start	117812877:117812877(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1717A>G
AA Mutation	p.Thr573Ala(p.T573A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000378204
Start	117818529:117818529(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1538T>C
AA Mutation	p.Ile513Thr(p.I513T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000378204
Start	117799791:117799791(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2162A>G
AA Mutation	p.Gln721Arg(p.Q721R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000378204
Start	117804789:117804789(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1988C>T
AA Mutation	p.Ala663Val(p.A663V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000378204
Start	118110595:118110595(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.452C>T
AA Mutation	p.Ala151Val(p.A151V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000378204
Start	118110581:118110581(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.466C>A
AA Mutation	p.Leu156Met(p.L156M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000378204
Start	117799807:117799807(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2146C>A
AA Mutation	p.Pro716Thr(p.P716T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000378204
Start	117818455:117818455(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767492816
CDS Mutation	c.1612G>A
AA Mutation	p.Val538Ile(p.V538I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000378204
Start	117807257:117807257(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1843G>A
AA Mutation	p.Asp615Asn(p.D615N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000378204
Start	118110411:118110411(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.636C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000378204
Start	117807330:117807330(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1770G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000378204
Start	117819744:117819744(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1468delC
AA Mutation	p.Leu490TrpfsTer9(p.L490Wfs*9)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	stop_gained
Transcription ID	ENST00000378204
Start	117804881:117804881(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1896C>A
AA Mutation	p.Tyr632Ter(p.Y632*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> EXT1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000378204
Start	117830303:117830303(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1211T>C
AA Mutation	p.Leu404Pro(p.L404P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000378204
Start	117799729:117799729(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2224G>T
AA Mutation	p.Asp742Tyr(p.D742Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000378204
Start	118110270:118110270(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.777C>T
Mutation Classification	Silent
Feature Type	Transcript