Colon Cancer: Gene >> HELLS

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000348459
Start	94594768:94594768(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2162G>A
AA Mutation	p.Arg721His(p.R721H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000348459
Start	94574167:94574167(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.685G>A
AA Mutation	p.Glu229Lys(p.E229K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000348459
Start	94576798:94576798(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770460162
CDS Mutation	c.1025C>T
AA Mutation	p.Ala342Val(p.A342V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000348459
Start	94592435:94592435(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1892T>C
AA Mutation	p.Leu631Ser(p.L631S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000348459
Start	94593515:94593515(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs772237527
CDS Mutation	c.1988C>T
AA Mutation	p.Thr663Met(p.T663M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000348459
Start	94558157:94558157(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.295A>C
AA Mutation	p.Lys99Gln(p.K99Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000348459
Start	94590473:94590473(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1549A>C
AA Mutation	p.Asn517His(p.N517H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000348459
Start	94554130:94554130(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780221772
CDS Mutation	c.158G>A
AA Mutation	p.Arg53His(p.R53H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000348459
Start	94588281:94588281(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1379T>C
AA Mutation	p.Val460Ala(p.V460A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000348459
Start	94583042:94583042(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1309T>G
AA Mutation	p.Leu437Val(p.L437V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000348459
Start	94594706:94594706(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779718210
CDS Mutation	c.2100G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000348459
Start	94581508:94581508(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1215T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000348459
Start	94571415:94571415(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.467delA
AA Mutation	p.Lys156ArgfsTer27(p.K156Rfs*27)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	stop_gained
Transcription ID	ENST00000348459
Start	94601584:94601584(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2479G>T
AA Mutation	p.Glu827Ter(p.E827*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	stop_gained
Transcription ID	ENST00000348459
Start	94558154:94558154(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.292G>T
AA Mutation	p.Glu98Ter(p.E98*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> HELLS

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000348459
Start	94590456:94590456(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372532589
CDS Mutation	c.1532G>A
AA Mutation	p.Arg511Gln(p.R511Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000348459
Start	94576792:94576792(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1019G>A
AA Mutation	p.Arg340Gln(p.R340Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000348459
Start	94554224:94554224(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.252G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000348459
Start	94592507:94592507(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1970delA
AA Mutation	p.Asn657ThrfsTer15(p.N657Tfs*15)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript