Colon Cancer: Gene >> PTCH2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000372192
Start	44827663:44827663(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2110G>A
AA Mutation	p.Ala704Thr(p.A704T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000372192
Start	44841909:44841909(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376362870
CDS Mutation	c.203C>A
AA Mutation	p.Ala68Asp(p.A68D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000372192
Start	44828153:44828153(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1748A>G
AA Mutation	p.Glu583Gly(p.E583G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000372192
Start	44832315:44832315(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.292C>T
AA Mutation	p.His98Tyr(p.H98Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000372192
Start	44823154:44823154(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3272C>T
AA Mutation	p.Ala1091Val(p.A1091V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000372192
Start	44823280:44823280(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3220C>T
AA Mutation	p.Leu1074Phe(p.L1074F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000372192
Start	44826532:44826532(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201618166
CDS Mutation	c.2932G>A
AA Mutation	p.Val978Ile(p.V978I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000372192
Start	44830935:44830935(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.726G>T
AA Mutation	p.Gln242His(p.Q242H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000372192
Start	44832167:44832167(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.440T>C
AA Mutation	p.Val147Ala(p.V147A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000372192
Start	44827249:44827249(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs112613379
CDS Mutation	c.2432G>A
AA Mutation	p.Arg811His(p.R811H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000372192
Start	44829709:44829709(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs530841790
CDS Mutation	c.988G>A
AA Mutation	p.Glu330Lys(p.E330K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000372192
Start	44826368:44826368(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2996T>C
AA Mutation	p.Met999Thr(p.M999T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000372192
Start	44829022:44829022(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747573693
CDS Mutation	c.1424C>T
AA Mutation	p.Ala475Val(p.A475V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372192
Start	44826918:44826918(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs113617379
CDS Mutation	c.2679G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372192
Start	44828527:44828527(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1569G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000372192
Start	44822594:44822594(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.3433delG
AA Mutation	p.Ala1145HisfsTer12(p.A1145Hfs*12)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000372192
Start	44822522:44822522(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs766993839
CDS Mutation	c.3505delC
AA Mutation	p.Leu1169CysfsTer85(p.L1169Cfs*85)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> PTCH2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000372192
Start	44829035:44829035(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769934593
CDS Mutation	c.1411G>A
AA Mutation	p.Val471Ile(p.V471I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000372192
Start	44829706:44829706(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200534670
CDS Mutation	c.991C>T
AA Mutation	p.His331Tyr(p.H331Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript