Colon Cancer: Gene >> EFEMP1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55917739:55917739(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374747361
CDS Mutation	c.443G>A
AA Mutation	p.Arg148His(p.R148H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55871108:55871108(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779708532
CDS Mutation	c.1016A>G
AA Mutation	p.Glu339Gly(p.E339G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55918239:55918239(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.110C>A
AA Mutation	p.Pro37His(p.P37H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55881726:55881726(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.526G>A
AA Mutation	p.Glu176Lys(p.E176K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55917955:55917955(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.227A>G
AA Mutation	p.Gln76Arg(p.Q76R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55881647:55881647(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.605C>A
AA Mutation	p.Pro202His(p.P202H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55871028:55871028(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1096C>G
AA Mutation	p.Gln366Glu(p.Q366E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55917805:55917805(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.377C>G
AA Mutation	p.Ala126Gly(p.A126G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000355426
Start	55922361:55922361(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768601184
CDS Mutation	c.80C>T
AA Mutation	p.Thr27Met(p.T27M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55871105:55871105(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1019C>A
AA Mutation	p.Thr340Asn(p.T340N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55917716:55917716(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.466C>T
AA Mutation	p.Arg156Cys(p.R156C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55870899:55870899(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1141G>T
AA Mutation	p.Val381Phe(p.V381F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000355426
Start	55918011:55918011(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.171T>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000355426
Start	55917954:55917954(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.228G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000355426
Start	55876696:55876696(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138120227
CDS Mutation	c.807C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000355426
Start	55871059:55871059(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1065C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000355426
Start	55922402:55922402(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.39G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	stop_gained
Transcription ID	ENST00000355426
Start	55881630:55881630(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.622C>T
AA Mutation	p.Arg208Ter(p.R208*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	stop_gained
Transcription ID	ENST00000355426
Start	55917782:55917782(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.400C>T
AA Mutation	p.Arg134Ter(p.R134*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> EFEMP1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55870761:55870761(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1279C>T
AA Mutation	p.Arg427Trp(p.R427W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55922384:55922384(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.57C>A
AA Mutation	p.Asp19Glu(p.D19E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55870729:55870729(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1311C>A
AA Mutation	p.Phe437Leu(p.F437L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript