Colon Cancer: Gene >> EFEMP2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000307998
Start	65870195:65870195(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.533T>C
AA Mutation	p.Val178Ala(p.V178A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000307998
Start	65869904:65869904(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.680G>A
AA Mutation	p.Arg227His(p.R227H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000307998
Start	65871292:65871292(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.232T>C
AA Mutation	p.Tyr78His(p.Y78H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000307998
Start	65868401:65868401(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.868G>A
AA Mutation	p.Gly290Ser(p.G290S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000307998
Start	65871265:65871265(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs149525720
CDS Mutation	c.259G>A
AA Mutation	p.Val87Ile(p.V87I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000307998
Start	65870152:65870152(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.576C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000307998
Start	65871233:65871233(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755077773
CDS Mutation	c.291G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	stop_gained
Transcription ID	ENST00000307998
Start	65871290:65871290(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.234C>A
AA Mutation	p.Tyr78Ter(p.Y78*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000307998
Start	65871356:65871358(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.166_168delAAC
AA Mutation	p.Asn56del(p.N56del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Rectum Cancer: Gene >> EFEMP2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000307998
Start	65870622:65870622(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773352910
CDS Mutation	c.404G>A
AA Mutation	p.Arg135His(p.R135H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript