Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> TP53BP1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43479447:43479447(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.723G>T
AA Mutation p.Gln241His(p.Q241H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43480934:43480934(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.445G>T
AA Mutation p.Asp149Tyr(p.D149Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43457062:43457062(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751008850
CDS Mutation c.1531G>T
AA Mutation p.Asp511Tyr(p.D511Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43477736:43477736(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.797C>A
AA Mutation p.Pro266His(p.P266H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43480924:43480924(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.455G>C
AA Mutation p.Gly152Ala(p.G152A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43407414:43407414(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5888C>T
AA Mutation p.Pro1963Leu(p.P1963L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43432528:43432528(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3326T>C
AA Mutation p.Ile1109Thr(p.I1109T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43420683:43420683(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4288T>C
AA Mutation p.Ser1430Pro(p.S1430P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43420470:43420470(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4501T>G
AA Mutation p.Phe1501Val(p.F1501V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43432635:43432635(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3219G>T
AA Mutation p.Glu1073Asp(p.E1073D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43456196:43456196(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2397G>T
AA Mutation p.Glu799Asp(p.E799D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43456605:43456605(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1988A>G
AA Mutation p.Glu663Gly(p.E663G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43457165:43457165(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1428A>C
AA Mutation p.Lys476Asn(p.K476N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43438354:43438354(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200776719
CDS Mutation c.3146G>A
AA Mutation p.Arg1049Gln(p.R1049Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43413212:43413212(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764425387
CDS Mutation c.5197G>A
AA Mutation p.Ala1733Thr(p.A1733T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43421963:43421963(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3977G>A
AA Mutation p.Ser1326Asn(p.S1326N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000263801
Start 43492305:43492305(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.156G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000263801
Start 43420402:43420402(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768334619
CDS Mutation c.4569C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000263801
Start 43432248:43432248(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3606T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000263801
Start 43446418:43446418(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs45479696
CDS Mutation c.2994G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000263801
Start 43420327:43420327(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371925735
CDS Mutation c.4644G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence frameshift_variant
Transcription ID ENST00000263801
Start 43469970:43469970(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1262delC
AA Mutation p.Pro421LeufsTer65(p.P421Lfs*65)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 23
Mutation Consequence frameshift_variant
Transcription ID ENST00000263801
Start 43420584:43420591(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4380_4387delTGACTCTC
AA Mutation p.Asp1461ArgfsTer12(p.D1461Rfs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 24
Mutation Consequence frameshift_variant
Transcription ID ENST00000263801
Start 43491716:43491716(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.309delC
AA Mutation p.Ile104SerfsTer95(p.I104Sfs*95)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 25
Mutation Consequence frameshift_variant
Transcription ID ENST00000263801
Start 43457016:43457016(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1577delC
AA Mutation p.Pro526GlnfsTer6(p.P526Qfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 26
Mutation Consequence stop_gained
Transcription ID ENST00000263801
Start 43416360:43416360(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4723G>T
AA Mutation p.Glu1575Ter(p.E1575*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence stop_gained
Transcription ID ENST00000263801
Start 43420626:43420626(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4345C>T
AA Mutation p.Arg1449Ter(p.R1449*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence stop_gained
Transcription ID ENST00000263801
Start 43456384:43456384(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2209G>T
AA Mutation p.Glu737Ter(p.E737*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence stop_gained
Transcription ID ENST00000263801
Start 43492298:43492298(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.163G>T
AA Mutation p.Glu55Ter(p.E55*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence stop_gained
Transcription ID ENST00000263801
Start 43432631:43432631(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3223G>T
AA Mutation p.Glu1075Ter(p.E1075*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence frameshift_variant
Transcription ID ENST00000263801
Start 43456462:43456463(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2130dupA
AA Mutation p.Glu711ArgfsTer9(p.E711Rfs*9)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 32
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000263801
Start 43474768:43474768(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1071-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 33
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000263801
Start 43491754:43491754(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.272-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 34
Mutation Consequence splice_donor_variant
Transcription ID ENST00000263801
Start 43421854:43421854(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4085+1G>A
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> TP53BP1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43457099:43457099(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748115671
CDS Mutation c.1494G>T
AA Mutation p.Lys498Asn(p.K498N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43428117:43428117(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752274598
CDS Mutation c.3712C>T
AA Mutation p.Arg1238Cys(p.R1238C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43409050:43409050(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773338141
CDS Mutation c.5432G>A
AA Mutation p.Arg1811Gln(p.R1811Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43420620:43420620(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4351G>T
AA Mutation p.Asp1451Tyr(p.D1451Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43428107:43428107(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3722G>T
AA Mutation p.Arg1241Ile(p.R1241I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43479500:43479500(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767165113
CDS Mutation c.670G>A
AA Mutation p.Glu224Lys(p.E224K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43432396:43432396(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3458G>T
AA Mutation p.Gly1153Val(p.G1153V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000263801
Start 43457111:43457111(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1482G>T
AA Mutation p.Glu494Asp(p.E494D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence stop_gained
Transcription ID ENST00000263801
Start 43447456:43447456(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2731G>T
AA Mutation p.Glu911Ter(p.E911*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence stop_gained
Transcription ID ENST00000263801
Start 43477686:43477686(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.847G>T
AA Mutation p.Glu283Ter(p.E283*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript