Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> POTEF

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130115051:130115051(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.640G>A
AA Mutation p.Val214Ile(p.V214I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130120447:130120447(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.69G>T
AA Mutation p.Lys23Asn(p.K23N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130075263:130075263(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776009831
CDS Mutation c.2209C>T
AA Mutation p.Arg737Cys(p.R737C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130085914:130085914(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1678G>A
AA Mutation p.Ala560Thr(p.A560T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130120385:130120385(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.131G>A
AA Mutation p.Gly44Asp(p.G44D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130075347:130075347(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs554366354
CDS Mutation c.2125G>A
AA Mutation p.Val709Ile(p.V709I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130075061:130075061(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773911945
CDS Mutation c.2411T>C
AA Mutation p.Leu804Pro(p.L804P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130074744:130074744(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748161177
CDS Mutation c.2728C>T
AA Mutation p.Arg910Cys(p.R910C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130120437:130120437(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.79T>C
AA Mutation p.Trp27Arg(p.W27R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130074743:130074743(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs550374458
CDS Mutation c.2729G>A
AA Mutation p.Arg910His(p.R910H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130110577:130110577(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1021G>A
AA Mutation p.Ala341Thr(p.A341T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130075450:130075450(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761759443
CDS Mutation c.2022G>T
AA Mutation p.Lys674Asn(p.K674N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130120240:130120240(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.276G>T
AA Mutation p.Lys92Asn(p.K92N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000357462
Start 130075303:130075303(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2169C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000357462
Start 130120489:130120489(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs540331197
CDS Mutation c.27G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000357462
Start 130074748:130074748(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749067062
CDS Mutation c.2724C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000357462
Start 130075372:130075372(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2100C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence frameshift_variant
Transcription ID ENST00000357462
Start 130114885:130114885(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.806delA
AA Mutation p.Asn269ThrfsTer20(p.N269Tfs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 19
Mutation Consequence frameshift_variant
Transcription ID ENST00000357462
Start 130075290:130075290(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2182delC
AA Mutation p.Arg728GlyfsTer16(p.R728Gfs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 20
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000357462
Start 130108080:130108080(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1056-1G>T
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> POTEF

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130074747:130074747(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs568979816
CDS Mutation c.2725G>A
AA Mutation p.Val909Met(p.V909M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130075334:130075334(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2138G>A
AA Mutation p.Gly713Asp(p.G713D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130120146:130120146(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376091861
CDS Mutation c.370G>A
AA Mutation p.Asp124Asn(p.D124N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130120471:130120471(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.45G>T
AA Mutation p.Lys15Asn(p.K15N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130114895:130114895(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.796G>A
AA Mutation p.Glu266Lys(p.E266K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130108058:130108058(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1077C>A
AA Mutation p.Asp359Glu(p.D359E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130075475:130075475(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1997A>T
AA Mutation p.Lys666Ile(p.K666I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000357462
Start 130112004:130112004(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.908G>T
AA Mutation p.Arg303Ile(p.R303I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000357462
Start 130114882:130114882(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.809A>C
AA Mutation p.Lys270Thr(p.K270T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000357462
Start 130120042:130120042(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759769429
CDS Mutation c.474C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000357462
Start 130115233:130115233(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.617delA
AA Mutation p.Lys206ArgfsTer5(p.K206Rfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 12
Mutation Consequence stop_gained
Transcription ID ENST00000357462
Start 130074732:130074732(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2740G>T
AA Mutation p.Glu914Ter(p.E914*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence frameshift_variant
Transcription ID ENST00000357462
Start 130075289:130075290(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2182dupC
AA Mutation p.Arg728ProfsTer54(p.R728Pfs*54)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript