Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> POLE

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132673627:132673627(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1307C>G
AA Mutation p.Pro436Arg(p.P436R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132679510:132679510(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.565G>A
AA Mutation p.Ala189Thr(p.A189T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132673219:132673219(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1418A>G
AA Mutation p.Tyr473Cys(p.Y473C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132668852:132668852(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1882G>A
AA Mutation p.Gly628Arg(p.G628R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132673703:132673703(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1231G>T
AA Mutation p.Val411Leu(p.V411L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132626239:132626239(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6409G>A
AA Mutation p.Glu2137Lys(p.E2137K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132665439:132665439(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2331G>T
AA Mutation p.Lys777Asn(p.K777N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132675741:132675741(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1100T>C
AA Mutation p.Phe367Ser(p.F367S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132676598:132676598(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.857C>G
AA Mutation p.Pro286Arg(p.P286R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132649802:132649802(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3670G>A
AA Mutation p.Ala1224Thr(p.A1224T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132632681:132632681(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs5745021
CDS Mutation c.6119C>T
AA Mutation p.Ala2040Val(p.A2040V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132626152:132626152(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759795841
CDS Mutation c.6496G>A
AA Mutation p.Asp2166Asn(p.D2166N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132677606:132677606(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.692G>A
AA Mutation p.Arg231His(p.R231H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132649373:132649373(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3938C>T
AA Mutation p.Thr1313Met(p.T1313M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132659415:132659415(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3155C>T
AA Mutation p.Thr1052Met(p.T1052M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132642909:132642909(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4639C>T
AA Mutation p.Pro1547Ser(p.P1547S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132626194:132626194(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138789360
CDS Mutation c.6454G>A
AA Mutation p.Val2152Met(p.V2152M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132661620:132661620(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763594644
CDS Mutation c.2771G>A
AA Mutation p.Arg924His(p.R924H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132661021:132661021(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3008A>G
AA Mutation p.Tyr1003Cys(p.Y1003C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132649769:132649769(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3703C>A
AA Mutation p.Leu1235Ile(p.L1235I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132642882:132642882(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768741587
CDS Mutation c.4666C>T
AA Mutation p.Arg1556Trp(p.R1556W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132673271:132673271(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1366G>C
AA Mutation p.Ala456Pro(p.A456P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132677660:132677660(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.638A>C
AA Mutation p.Asp213Ala(p.D213A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132679974:132679974(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.403C>T
AA Mutation p.Pro135Ser(p.P135S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132649709:132649709(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3763T>G
AA Mutation p.Leu1255Val(p.L1255V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132642993:132642993(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs542430685
CDS Mutation c.4555C>T
AA Mutation p.Arg1519Cys(p.R1519C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132641771:132641771(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5254G>A
AA Mutation p.Asp1752Asn(p.D1752N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132668374:132668374(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765254190
CDS Mutation c.2155G>A
AA Mutation p.Glu719Lys(p.E719K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132649831:132649831(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3641A>C
AA Mutation p.Asp1214Ala(p.D1214A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence synonymous_variant
Transcription ID ENST00000320574
Start 132681270:132681270(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs61751359
CDS Mutation c.72C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 31
Mutation Consequence synonymous_variant
Transcription ID ENST00000320574
Start 132665412:132665412(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2358C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 32
Mutation Consequence synonymous_variant
Transcription ID ENST00000320574
Start 132642349:132642349(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs112358554
CDS Mutation c.5001C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 33
Mutation Consequence synonymous_variant
Transcription ID ENST00000320574
Start 132649031:132649031(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201746181
CDS Mutation c.4047G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 34
Mutation Consequence synonymous_variant
Transcription ID ENST00000320574
Start 132642226:132642226(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs114891564
CDS Mutation c.5124C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 35
Mutation Consequence frameshift_variant
Transcription ID ENST00000320574
Start 132657208:132657208(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3510delA
AA Mutation p.Lys1170AsnfsTer49(p.K1170Nfs*49)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 36
Mutation Consequence frameshift_variant
Transcription ID ENST00000320574
Start 132668438:132668438(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs752846614
CDS Mutation c.2091delC
AA Mutation p.Leu698CysfsTer94(p.L698Cfs*94)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 37
Mutation Consequence frameshift_variant
Transcription ID ENST00000320574
Start 132676142:132676142(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.972delC
AA Mutation p.Lys325SerfsTer19(p.K325Sfs*19)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 38
Mutation Consequence frameshift_variant
Transcription ID ENST00000320574
Start 132632712:132632712(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.6088delG
AA Mutation p.Ala2030ProfsTer18(p.A2030Pfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 39
Mutation Consequence frameshift_variant
Transcription ID ENST00000320574
Start 132675438:132675438(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1186delG
AA Mutation p.Glu396SerfsTer16(p.E396Sfs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 40
Mutation Consequence stop_gained
Transcription ID ENST00000320574
Start 132648967:132648967(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs151278283
CDS Mutation c.4111C>T
AA Mutation p.Arg1371Ter(p.R1371*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> POLE

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132632763:132632763(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6037G>A
AA Mutation p.Asp2013Asn(p.D2013N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132643949:132643949(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4178T>A
AA Mutation p.Met1393Lys(p.M1393K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132667547:132667547(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759398253
CDS Mutation c.2275C>T
AA Mutation p.Arg759Cys(p.R759C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132673261:132673261(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1376C>T
AA Mutation p.Ser459Phe(p.S459F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000320574
Start 132676598:132676598(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.857C>G
AA Mutation p.Pro286Arg(p.P286R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000320574
Start 132641751:132641751(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5274C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000320574
Start 132659480:132659480(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766306895
CDS Mutation c.3090C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence stop_gained
Transcription ID ENST00000320574
Start 132679627:132679627(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775815329
CDS Mutation c.448C>T
AA Mutation p.Arg150Ter(p.R150*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript