Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> HIF1A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000337138
Start 61721643:61721643(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.361G>A
AA Mutation p.Gly121Arg(p.G121R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000337138
Start 61745749:61745749(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2261G>A
AA Mutation p.Arg754His(p.R754H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000337138
Start 61720519:61720519(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.173C>A
AA Mutation p.Ser58Tyr(p.S58Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000337138
Start 61721641:61721641(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.359T>C
AA Mutation p.Met120Thr(p.M120T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000337138
Start 61737082:61737082(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1222A>C
AA Mutation p.Ile408Leu(p.I408L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000337138
Start 61741138:61741138(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2043A>T
AA Mutation p.Glu681Asp(p.E681D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000337138
Start 61736995:61736995(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1135G>A
AA Mutation p.Glu379Lys(p.E379K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000337138
Start 61740516:61740516(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1548C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000337138
Start 61741033:61741033(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774872613
CDS Mutation c.1938C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000337138
Start 61720469:61720469(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.123T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence stop_gained
Transcription ID ENST00000337138
Start 61732449:61732449(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.805G>T
AA Mutation p.Glu269Ter(p.E269*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence frameshift_variant
Transcription ID ENST00000337138
Start 61720452:61720453(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.112dupT
AA Mutation p.Tyr38LeufsTer2(p.Y38Lfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> HIF1A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000337138
Start 61727616:61727616(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.734G>A
AA Mutation p.Arg245Gln(p.R245Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000337138
Start 61732476:61732476(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.832T>A
AA Mutation p.Tyr278Asn(p.Y278N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000337138
Start 61738158:61738158(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774190899
CDS Mutation c.1321G>A
AA Mutation p.Glu441Lys(p.E441K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence stop_gained
Transcription ID ENST00000337138
Start 61720404:61720404(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.58G>T
AA Mutation p.Glu20Ter(p.E20*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000337138
Start 61720443:61720443(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.97G>T
AA Mutation p.Glu33Ter(p.E33*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence frameshift_variant
Transcription ID ENST00000337138
Start 61740841:61740842(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1746_1747insAC
AA Mutation p.Leu583ThrfsTer2(p.L583Tfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 7
Mutation Consequence stop_lost
Transcription ID ENST00000337138
Start 61747085:61747085(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2481A>C
AA Mutation p.Ter827CysextTer4(p.*827Cext*4)
Mutation Classification Nonstop_Mutation
Feature Type Transcript