Colon Cancer: Gene >> ATP7A

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78029272:78029272(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2939G>A
AA Mutation	p.Arg980Gln(p.R980Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	77988402:77988402(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.281C>T
AA Mutation	p.Ala94Val(p.A94V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78033780:78033780(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3470C>T
AA Mutation	p.Ser1157Leu(p.S1157L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	77989638:77989638(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1016C>T
AA Mutation	p.Ser339Leu(p.S339L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78020335:78020335(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2718T>A
AA Mutation	p.His906Gln(p.H906Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78014728:78014728(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2473C>T
AA Mutation	p.Leu825Phe(p.L825F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78043320:78043320(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4009G>T
AA Mutation	p.Asp1337Tyr(p.D1337Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	77989681:77989681(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1059T>A
AA Mutation	p.Ser353Arg(p.S353R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78009183:78009183(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781959472
CDS Mutation	c.1789G>A
AA Mutation	p.Val597Met(p.V597M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78046499:78046499(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4432G>A
AA Mutation	p.Val1478Ile(p.V1478I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78029290:78029290(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781995242
CDS Mutation	c.2957G>A
AA Mutation	p.Arg986Gln(p.R986Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78003140:78003140(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1611A>G
AA Mutation	p.Ile537Met(p.I537M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78033809:78033809(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3499G>A
AA Mutation	p.Ala1167Thr(p.A1167T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78020336:78020336(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2719G>A
AA Mutation	p.Val907Ile(p.V907I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78033612:78033612(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3302A>G
AA Mutation	p.Asp1101Gly(p.D1101G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78011456:78011456(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377714939
CDS Mutation	c.1954C>T
AA Mutation	p.Arg652Trp(p.R652W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000341514
Start	77998518:77998518(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377355446
CDS Mutation	c.1377G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000341514
Start	78029333:78029333(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3000T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000341514
Start	77989912:77989912(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs143036870
CDS Mutation	c.1290G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000341514
Start	78038897:78038897(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3573T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000341514
Start	78046390:78046390(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4323T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000341514
Start	77988578:77988578(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.457C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000341514
Start	78042659:78042659(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3879delG
AA Mutation	p.Lys1294AsnfsTer3(p.K1294Nfs*3)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	stop_gained
Transcription ID	ENST00000341514
Start	78009225:78009225(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs797045337
CDS Mutation	c.1831G>T
AA Mutation	p.Glu611Ter(p.E611*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	stop_gained
Transcription ID	ENST00000341514
Start	78003171:78003171(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1642G>T
AA Mutation	p.Glu548Ter(p.E548*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000341514
Start	78011476:78011477(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.1979dupT
AA Mutation	p.Cys661LeufsTer24(p.C661Lfs*24)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000341514
Start	77989821:77989822(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.1205dupA
AA Mutation	p.Pro403AlafsTer13(p.P403Afs*13)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> ATP7A

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78042615:78042615(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3832C>G
AA Mutation	p.Leu1278Val(p.L1278V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78046313:78046313(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781970260
CDS Mutation	c.4246G>A
AA Mutation	p.Glu1416Lys(p.E1416K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78011195:78011195(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1889C>A
AA Mutation	p.Ser630Tyr(p.S630Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000341514
Start	78046357:78046357(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4290T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000341514
Start	78020353:78020353(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2736C>G
Mutation Classification	Silent
Feature Type	Transcript