Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> EPG5

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45855635:45855635(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs191244915
CDS Mutation c.7495A>G
AA Mutation p.Met2499Val(p.M2499V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45879139:45879139(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5743G>T
AA Mutation p.Gly1915Cys(p.G1915C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45928980:45928980(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2442G>T
AA Mutation p.Glu814Asp(p.E814D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45939624:45939624(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2075T>C
AA Mutation p.Val692Ala(p.V692A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45916088:45916088(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3503T>C
AA Mutation p.Leu1168Pro(p.L1168P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45880150:45880150(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5592C>G
AA Mutation p.Ser1864Arg(p.S1864R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45952547:45952547(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1105G>A
AA Mutation p.Asp369Asn(p.D369N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45899472:45899472(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4741A>G
AA Mutation p.Thr1581Ala(p.T1581A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45858016:45858016(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770854534
CDS Mutation c.7279C>T
AA Mutation p.Leu2427Phe(p.L2427F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45915521:45915521(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs556565796
CDS Mutation c.3683C>T
AA Mutation p.Thr1228Met(p.T1228M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45916086:45916086(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3505A>G
AA Mutation p.Met1169Val(p.M1169V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45943299:45943299(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1805C>T
AA Mutation p.Pro602Leu(p.P602L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45925830:45925830(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755283620
CDS Mutation c.2626C>T
AA Mutation p.Arg876Trp(p.R876W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45889841:45889841(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4909C>T
AA Mutation p.Leu1637Phe(p.L1637F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45925829:45925829(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2627G>T
AA Mutation p.Arg876Leu(p.R876L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45922536:45922536(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2903C>T
AA Mutation p.Ala968Val(p.A968V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45904086:45904086(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766875773
CDS Mutation c.4361G>A
AA Mutation p.Arg1454His(p.R1454H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45915597:45915597(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764221778
CDS Mutation c.3607C>T
AA Mutation p.Arg1203Trp(p.R1203W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45867666:45867666(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6308A>G
AA Mutation p.Asp2103Gly(p.D2103G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45882321:45882321(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5471A>T
AA Mutation p.Tyr1824Phe(p.Y1824F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45882289:45882289(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5503A>G
AA Mutation p.Arg1835Gly(p.R1835G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45922494:45922494(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2945A>G
AA Mutation p.Tyr982Cys(p.Y982C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45858767:45858767(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7025A>G
AA Mutation p.Asn2342Ser(p.N2342S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45954901:45954901(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.501G>T
AA Mutation p.Met167Ile(p.M167I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45855670:45855670(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7460G>A
AA Mutation p.Arg2487Gln(p.R2487Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45858769:45858769(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs542786306
CDS Mutation c.7023G>T
AA Mutation p.Gln2341His(p.Q2341H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45910708:45910708(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4018T>A
AA Mutation p.Phe1340Ile(p.F1340I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence synonymous_variant
Transcription ID ENST00000282041
Start 45913775:45913775(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370662035
CDS Mutation c.3747C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 29
Mutation Consequence synonymous_variant
Transcription ID ENST00000282041
Start 45915541:45915541(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3663C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 30
Mutation Consequence synonymous_variant
Transcription ID ENST00000282041
Start 45901100:45901100(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761449592
CDS Mutation c.4542G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 31
Mutation Consequence synonymous_variant
Transcription ID ENST00000282041
Start 45855666:45855666(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7464C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 32
Mutation Consequence synonymous_variant
Transcription ID ENST00000282041
Start 45944045:45944045(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1752T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 33
Mutation Consequence synonymous_variant
Transcription ID ENST00000282041
Start 45867635:45867635(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6339C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 34
Mutation Consequence synonymous_variant
Transcription ID ENST00000282041
Start 45922481:45922481(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs576591054
CDS Mutation c.2958G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000282041
Start 45949565:45949565(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1416T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000282041
Start 45952548:45952548(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs562098384
CDS Mutation c.1104C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000282041
Start 45955231:45955231(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.171A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence frameshift_variant
Transcription ID ENST00000282041
Start 45876264:45876265(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.6020_6021delGT
AA Mutation p.Cys2007TyrfsTer2(p.C2007Yfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 39
Mutation Consequence frameshift_variant
Transcription ID ENST00000282041
Start 45879178:45879178(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5704delT
AA Mutation p.Tyr1902IlefsTer26(p.Y1902Ifs*26)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 40
Mutation Consequence frameshift_variant
Transcription ID ENST00000282041
Start 45860215:45860215(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6898delA
AA Mutation p.Met2300CysfsTer10(p.M2300Cfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 41
Mutation Consequence stop_gained
Transcription ID ENST00000282041
Start 45951224:45951224(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1267G>T
AA Mutation p.Glu423Ter(p.E423*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence stop_gained
Transcription ID ENST00000282041
Start 45922576:45922576(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761554022
CDS Mutation c.2863C>T
AA Mutation p.Arg955Ter(p.R955*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence splice_donor_variant
Transcription ID ENST00000282041
Start 45882272:45882272(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5518+2T>G
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 44
Mutation Consequence splice_donor_variant
Transcription ID ENST00000282041
Start 45857852:45857852(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7442+1G>T
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> EPG5

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45910663:45910663(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4063C>T
AA Mutation p.Arg1355Cys(p.R1355C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45915518:45915518(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778094374
CDS Mutation c.3686C>A
AA Mutation p.Pro1229His(p.P1229H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45879027:45879027(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5855C>T
AA Mutation p.Ala1952Val(p.A1952V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000282041
Start 45951102:45951102(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1389G>T
AA Mutation p.Leu463Phe(p.L463F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45866874:45866874(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6545C>A
AA Mutation p.Ser2182Tyr(p.S2182Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45867599:45867599(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6375T>G
AA Mutation p.Ile2125Met(p.I2125M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45917808:45917808(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3110T>G
AA Mutation p.Phe1037Cys(p.F1037C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45944063:45944063(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1734T>G
AA Mutation p.Ile578Met(p.I578M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45952547:45952547(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1105G>A
AA Mutation p.Asp369Asn(p.D369N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45954923:45954923(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.479T>G
AA Mutation p.Phe160Cys(p.F160C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000282041
Start 45884798:45884798(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750664406
CDS Mutation c.5123G>A
AA Mutation p.Gly1708Asp(p.G1708D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence stop_gained
Transcription ID ENST00000282041
Start 45866878:45866878(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755840290
CDS Mutation c.6541G>T
AA Mutation p.Glu2181Ter(p.E2181*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript