Colon Cancer: Gene >> HPSE

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000311412
Start	83310816:83310816(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.748C>A
AA Mutation	p.His250Asn(p.H250N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000311412
Start	83295498:83295498(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1478T>C
AA Mutation	p.Val493Ala(p.V493A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000311412
Start	83319407:83319407(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.436T>C
AA Mutation	p.Tyr146His(p.Y146H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000311412
Start	83308894:83308894(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1042T>C
AA Mutation	p.Tyr348His(p.Y348H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000311412
Start	83308881:83308881(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1055C>T
AA Mutation	p.Ala352Val(p.A352V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000311412
Start	83308944:83308944(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.992A>G
AA Mutation	p.Glu331Gly(p.E331G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000311412
Start	83310807:83310807(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.757C>A
AA Mutation	p.Leu253Ile(p.L253I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000311412
Start	83308900:83308900(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1036T>C
AA Mutation	p.Ser346Pro(p.S346P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000311412
Start	83334667:83334667(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769348375
CDS Mutation	c.116T>A
AA Mutation	p.Val39Glu(p.V39E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000311412
Start	83306215:83306215(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1194C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000311412
Start	83306287:83306287(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1122A>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000311412
Start	83295380:83295380(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1596delT
AA Mutation	p.Phe532LeufsTer2(p.F532Lfs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	stop_gained;protein_altering_variant
Transcription ID	ENST00000311412
Start	83322313:83322314(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.278_279insTTAATCTCATTAATT
AA Mutation	p.Arg93delinsSerTerSerHisTerLeu(p.R93delinsS*SH*L)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> HPSE

Mutation ID	1
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000311412
Start	83306215:83306215(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1194C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000311412
Start	83295380:83295380(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1596delT
AA Mutation	p.Phe532LeufsTer2(p.F532Lfs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript