Colon Cancer: Gene >> ACVR2B

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000352511
Start	38482281:38482281(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1158G>T
AA Mutation	p.Met386Ile(p.M386I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000352511
Start	38482456:38482456(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1240T>G
AA Mutation	p.Phe414Val(p.F414V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000352511
Start	38483258:38483258(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1465A>C
AA Mutation	p.Thr489Pro(p.T489P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000352511
Start	38477415:38477415(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.181G>A
AA Mutation	p.Ala61Thr(p.A61T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000352511
Start	38477869:38477869(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.269G>A
AA Mutation	p.Cys90Tyr(p.C90Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000352511
Start	38483189:38483189(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1396G>A
AA Mutation	p.Glu466Lys(p.E466K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000352511
Start	38477917:38477917(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.317G>A
AA Mutation	p.Gly106Asp(p.G106D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000352511
Start	38478252:38478252(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs572594763
CDS Mutation	c.482G>A
AA Mutation	p.Arg161Gln(p.R161Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000352511
Start	38477931:38477931(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770339569
CDS Mutation	c.331G>A
AA Mutation	p.Glu111Lys(p.E111K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000352511
Start	38481410:38481410(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1019T>A
AA Mutation	p.Phe340Tyr(p.F340Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000352511
Start	38479177:38479177(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.716T>C
AA Mutation	p.Met239Thr(p.M239T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000352511
Start	38482263:38482263(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1140C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000352511
Start	38478173:38478173(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.403C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000352511
Start	38479797:38479797(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200335360
CDS Mutation	c.930C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000352511
Start	38478209:38478209(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.443delG
AA Mutation	p.Gly148AlafsTer40(p.G148Afs*40)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	stop_gained
Transcription ID	ENST00000352511
Start	38479753:38479753(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.886C>T
AA Mutation	p.Arg296Ter(p.R296*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000352511
Start	38479676:38479676(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.811-2A>G
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> ACVR2B

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000352511
Start	38479152:38479152(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.691C>T
AA Mutation	p.Arg231Trp(p.R231W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000352511
Start	38479690:38479690(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.823G>A
AA Mutation	p.Asp275Asn(p.D275N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000352511
Start	38481350:38481350(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.960-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript