Colon Cancer: Gene >> URI1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000392271
Start	30009088:30009088(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138648155
CDS Mutation	c.770C>T
AA Mutation	p.Ala257Val(p.A257V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000392271
Start	30009065:30009065(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.747A>T
AA Mutation	p.Glu249Asp(p.E249D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000392271
Start	30007580:30007580(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.628C>A
AA Mutation	p.Leu210Met(p.L210M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000392271
Start	29986337:29986337(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.287T>C
AA Mutation	p.Val96Ala(p.V96A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000392271
Start	30014962:30014962(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199962604
CDS Mutation	c.1501G>A
AA Mutation	p.Ala501Thr(p.A501T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000392271
Start	30012410:30012410(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778352287
CDS Mutation	c.1304G>A
AA Mutation	p.Arg435Gln(p.R435Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000392271
Start	30011177:30011177(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1119T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000392271
Start	30012333:30012333(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1227C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000392271
Start	30005386:30005386(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.399delA
AA Mutation	p.Val134Ter(p.V134*)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	stop_gained
Transcription ID	ENST00000392271
Start	30007478:30007478(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771563788
CDS Mutation	c.526C>T
AA Mutation	p.Arg176Ter(p.R176*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000392271
Start	29986418:29986418(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.367+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000392271
Start	30009246:30009266(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.930_950delCGACAACATTGACGACGATGA
AA Mutation	p.Asp311_Asp317del(p.D311_D317del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000392271
Start	30009234:30009239(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs775535103
CDS Mutation	c.918_923delTGACGA
AA Mutation	p.Asp310_Asp311del(p.D310_D311del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Rectum Cancer: Gene >> URI1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000392271
Start	30005699:30005699(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.508G>A
AA Mutation	p.Glu170Lys(p.E170K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000392271
Start	29986315:29986315(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.265A>C
AA Mutation	p.Lys89Gln(p.K89Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000392271
Start	30012344:30012344(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1238G>A
AA Mutation	p.Arg413Gln(p.R413Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000392271
Start	30005381:30005381(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.388G>T
AA Mutation	p.Asp130Tyr(p.D130Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000392271
Start	30012396:30012396(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1290A>C
AA Mutation	p.Glu430Asp(p.E430D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000392271
Start	30011114:30011114(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1056G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000392271
Start	30009041:30009041(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.723G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000392271
Start	30005698:30005698(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs78325360
CDS Mutation	c.507C>T
Mutation Classification	Silent
Feature Type	Transcript