Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CIITA

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10910234:10910234(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2863C>T
AA Mutation	p.Arg955Trp(p.R955W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10907287:10907287(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375045681
CDS Mutation	c.1795C>T
AA Mutation	p.Arg599Trp(p.R599W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10906630:10906630(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1138C>T
AA Mutation	p.Arg380Trp(p.R380W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10907144:10907144(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1652G>A
AA Mutation	p.Gly551Asp(p.G551D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10909049:10909049(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2678T>C
AA Mutation	p.Val893Ala(p.V893A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10918501:10918501(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3124C>T
AA Mutation	p.Leu1042Phe(p.L1042F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10922240:10922240(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141713994
CDS Mutation	c.3223C>T
AA Mutation	p.Arg1075Trp(p.R1075W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10915613:10915613(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2932C>T
AA Mutation	p.Arg978Trp(p.R978W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10895705:10895705(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.236G>A
AA Mutation	p.Ser79Asn(p.S79N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10907659:10907659(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2167G>A
AA Mutation	p.Ala723Thr(p.A723T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10922193:10922193(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3176T>C
AA Mutation	p.Val1059Ala(p.V1059A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10923268:10923268(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3358C>A
AA Mutation	p.Leu1120Met(p.L1120M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10907498:10907498(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745446439
CDS Mutation	c.2006G>A
AA Mutation	p.Arg669His(p.R669H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10908142:10908142(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2650C>T
AA Mutation	p.Arg884Cys(p.R884C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000324288
Start	10895764:10895764(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761597254
CDS Mutation	c.295G>A
AA Mutation	p.Ala99Thr(p.A99T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10907033:10907033(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1541C>T
AA Mutation	p.Thr514Met(p.T514M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10903846:10903846(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754504346
CDS Mutation	c.888C>A
AA Mutation	p.Asp296Glu(p.D296E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10907134:10907134(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757009223
CDS Mutation	c.1642C>T
AA Mutation	p.Arg548Trp(p.R548W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10908007:10908007(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2515C>T
AA Mutation	p.Arg839Cys(p.R839C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10915614:10915614(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs546498273
CDS Mutation	c.2933G>A
AA Mutation	p.Arg978Gln(p.R978Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000324288
Start	10916394:10916394(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199829790
CDS Mutation	c.2997C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000324288
Start	10906944:10906944(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1452C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000324288
Start	10906932:10906932(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1440C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000324288
Start	10902087:10902087(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs188055251
CDS Mutation	c.531C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000324288
Start	10907382:10907382(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371967455
CDS Mutation	c.1890C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000324288
Start	10906929:10906929(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779022639
CDS Mutation	c.1437G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000324288
Start	10907049:10907049(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1557G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000324288
Start	10907595:10907595(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs564280588
CDS Mutation	c.2103C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000324288
Start	10907293:10907293(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1801C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000324288
Start	10922434:10922434(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs149640268
CDS Mutation	c.3261C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000324288
Start	10908054:10908054(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2562G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000324288
Start	10910242:10910242(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2873delA
AA Mutation	p.Lys958ArgfsTer37(p.K958Rfs*37)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000324288
Start	10910215:10910216(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2848dupG
AA Mutation	p.Glu950GlyfsTer47(p.E950Gfs*47)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000324288
Start	10907447:10907448(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1961_1962dupCC
AA Mutation	p.Gly655ProfsTer32(p.G655Pfs*32)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000324288
Start	10902657:10902657(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.629-1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> CIITA

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10907671:10907671(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs548646642
CDS Mutation	c.2179G>A
AA Mutation	p.Glu727Lys(p.E727K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10907709:10907709(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2217G>T
AA Mutation	p.Leu739Phe(p.L739F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000324288
Start	10877350:10877350(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374703179
CDS Mutation	c.20G>A
AA Mutation	p.Arg7His(p.R7H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_lost
Transcription ID	ENST00000324288
Start	10923302:10923302(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3392G>C
AA Mutation	p.Ter1131SerextTer35(p.1131Sext35)
Mutation Classification	Nonstop_Mutation
Feature Type	Transcript