Colon Cancer: Gene >> ABCG5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000260645
Start	43824966:43824966(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368800131
CDS Mutation	c.827C>T
AA Mutation	p.Thr276Met(p.T276M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000260645
Start	43826489:43826489(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.667C>A
AA Mutation	p.Leu223Met(p.L223M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000260645
Start	43838652:43838652(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761311404
CDS Mutation	c.28G>A
AA Mutation	p.Gly10Arg(p.G10R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000260645
Start	43824355:43824355(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.982G>T
AA Mutation	p.Ala328Ser(p.A328S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000260645
Start	43838670:43838670(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751275236
CDS Mutation	c.10C>A
AA Mutation	p.Leu4Ile(p.L4I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000260645
Start	43824895:43824895(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.898T>G
AA Mutation	p.Phe300Val(p.F300V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000260645
Start	43824115:43824115(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1122A>T
AA Mutation	p.Arg374Ser(p.R374S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000260645
Start	43823953:43823953(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs143972075
CDS Mutation	c.1284C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000260645
Start	43831814:43831814(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.456G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	stop_gained
Transcription ID	ENST00000260645
Start	43837861:43837861(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.238C>T
AA Mutation	p.Gln80Ter(p.Q80*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000260645
Start	43819914:43819914(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1649+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> ABCG5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000260645
Start	43826506:43826506(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.650A>G
AA Mutation	p.Asp217Gly(p.D217G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000260645
Start	43813185:43813185(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1887A>C
Mutation Classification	Silent
Feature Type	Transcript