Colon Cancer: Gene >> JPH3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87644302:87644302(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs111480296
CDS Mutation	c.427G>A
AA Mutation	p.Gly143Ser(p.G143S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87696592:87696592(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2179A>C
AA Mutation	p.Ile727Leu(p.I727L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87603241:87603241(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.95G>A
AA Mutation	p.Gly32Asp(p.G32D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87644290:87644290(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.415C>T
AA Mutation	p.Arg139Cys(p.R139C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87644335:87644335(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs146321235
CDS Mutation	c.460G>A
AA Mutation	p.Ala154Thr(p.A154T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87603355:87603355(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.209G>A
AA Mutation	p.Arg70His(p.R70H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87644383:87644383(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.508G>A
AA Mutation	p.Glu170Lys(p.E170K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87644731:87644731(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.856G>A
AA Mutation	p.Glu286Lys(p.E286K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87644291:87644291(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.416G>A
AA Mutation	p.Arg139His(p.R139H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87603426:87603426(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.280C>T
AA Mutation	p.Arg94Cys(p.R94C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87644464:87644464(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771941317
CDS Mutation	c.589G>A
AA Mutation	p.Val197Met(p.V197M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87644426:87644426(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs569623845
CDS Mutation	c.551C>T
AA Mutation	p.Ala184Val(p.A184V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87644905:87644905(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs147468725
CDS Mutation	c.1030G>A
AA Mutation	p.Val344Ile(p.V344I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87644969:87644969(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375201712
CDS Mutation	c.1094G>A
AA Mutation	p.Arg365His(p.R365H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87684212:87684212(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1231A>G
AA Mutation	p.Ile411Val(p.I411V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87644608:87644608(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs142136496
CDS Mutation	c.733C>T
AA Mutation	p.Arg245Cys(p.R245C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87644399:87644399(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs151044284
CDS Mutation	c.524C>T
AA Mutation	p.Thr175Met(p.T175M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87644609:87644609(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs772600210
CDS Mutation	c.734G>A
AA Mutation	p.Arg245His(p.R245H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000284262
Start	87644844:87644844(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376157795
CDS Mutation	c.969C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000284262
Start	87644676:87644676(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200310769
CDS Mutation	c.801C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000284262
Start	87644430:87644430(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.555G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000284262
Start	87690283:87690283(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749538454
CDS Mutation	c.1923C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000284262
Start	87603431:87603431(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.285C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000284262
Start	87644931:87644931(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1060delC
AA Mutation	p.Leu354CysfsTer117(p.L354Cfs*117)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000284262
Start	87689800:87689800(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1443delC
AA Mutation	p.Thr482ProfsTer127(p.T482Pfs*127)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	stop_gained
Transcription ID	ENST00000284262
Start	87690111:87690111(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1751G>A
AA Mutation	p.Trp584Ter(p.W584*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	stop_gained
Transcription ID	ENST00000284262
Start	87689792:87689792(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1432C>T
AA Mutation	p.Gln478Ter(p.Q478*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> JPH3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87644696:87644696(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs144403955
CDS Mutation	c.821C>T
AA Mutation	p.Ala274Val(p.A274V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87644365:87644365(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.490A>C
AA Mutation	p.Ile164Leu(p.I164L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000284262
Start	87690488:87690488(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2128T>A
AA Mutation	p.Ser710Thr(p.S710T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000284262
Start	87689779:87689779(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs539750381
CDS Mutation	c.1419C>T
Mutation Classification	Silent
Feature Type	Transcript