Colon Cancer: Gene >> BLM

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000355112
Start	90763022:90763022(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1939C>A
AA Mutation	p.Leu647Ile(p.L647I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000355112
Start	90751870:90751870(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs146096923
CDS Mutation	c.883G>T
AA Mutation	p.Asp295Tyr(p.D295Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000355112
Start	90809140:90809140(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3755C>T
AA Mutation	p.Ser1252Phe(p.S1252F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000355112
Start	90811344:90811344(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4014G>T
AA Mutation	p.Lys1338Asn(p.K1338N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000355112
Start	90749831:90749831(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.563A>G
AA Mutation	p.Lys188Arg(p.K188R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000355112
Start	90794229:90794229(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3082C>T
AA Mutation	p.His1028Tyr(p.H1028Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000355112
Start	90747490:90747490(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139282091
CDS Mutation	c.98C>T
AA Mutation	p.Ser33Leu(p.S33L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000355112
Start	90769176:90769176(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2351A>G
AA Mutation	p.Tyr784Cys(p.Y784C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000355112
Start	90803593:90803593(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3431G>T
AA Mutation	p.Arg1144Ile(p.R1144I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000355112
Start	90749592:90749592(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.324G>T
AA Mutation	p.Leu108Phe(p.L108F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000355112
Start	90790701:90790701(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2876G>T
AA Mutation	p.Arg959Leu(p.R959L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000355112
Start	90763153:90763153(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148078150
CDS Mutation	c.2070G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000355112
Start	90782891:90782891(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2625A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000355112
Start	90749628:90749628(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.360C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000355112
Start	90794186:90794186(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747406569
CDS Mutation	c.3039T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000355112
Start	90760909:90760909(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs772495493
CDS Mutation	c.1544delA
AA Mutation	p.Asn515MetfsTer16(p.N515Mfs*16)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000355112
Start	90804254:90804254(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3651delA
AA Mutation	p.Lys1217AsnfsTer62(p.K1217Nfs*62)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	stop_gained
Transcription ID	ENST00000355112
Start	90769138:90769138(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2313T>A
AA Mutation	p.Cys771Ter(p.C771*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	stop_gained
Transcription ID	ENST00000355112
Start	90803577:90803577(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587783037
CDS Mutation	c.3415C>T
AA Mutation	p.Arg1139Ter(p.R1139*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	stop_gained
Transcription ID	ENST00000355112
Start	90784953:90784953(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587779884
CDS Mutation	c.2695C>T
AA Mutation	p.Arg899Ter(p.R899*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000355112
Start	90804264:90804265(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.3656_3657insACCTTTA
AA Mutation	p.Gly1220ProfsTer25(p.G1220Pfs*25)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000355112
Start	90769437:90769437(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2407-1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	protein_altering_variant
Transcription ID	ENST00000355112
Start	90749593:90749594(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.325_326insTTAATA
AA Mutation	p.Pro109delinsLeuAsnThr(p.P109delinsLNT)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> BLM

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000355112
Start	90749561:90749561(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.293A>G
AA Mutation	p.Glu98Gly(p.E98G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000355112
Start	90760758:90760758(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1385C>A
AA Mutation	p.Ser462Tyr(p.S462Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000355112
Start	90798239:90798239(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3260T>G
AA Mutation	p.Phe1087Cys(p.F1087C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000355112
Start	90749708:90749708(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.440C>A
AA Mutation	p.Ser147Tyr(p.S147Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000355112
Start	90809140:90809140(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3755C>A
AA Mutation	p.Ser1252Tyr(p.S1252Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000355112
Start	90769186:90769186(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2361G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000355112
Start	90760909:90760909(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs772495493
CDS Mutation	c.1544delA
AA Mutation	p.Asn515MetfsTer16(p.N515Mfs*16)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript