Colon Cancer: Gene >> ATXN2L

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000336783
Start	28830779:28830779(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1199G>C
AA Mutation	p.Gly400Ala(p.G400A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000336783
Start	28834403:28834403(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs560637561
CDS Mutation	c.2233C>T
AA Mutation	p.Arg745Trp(p.R745W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000336783
Start	28835298:28835298(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2584C>A
AA Mutation	p.Pro862Thr(p.P862T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000336783
Start	28835991:28835991(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2954C>A
AA Mutation	p.Pro985Gln(p.P985Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000336783
Start	28830986:28830986(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1235C>T
AA Mutation	p.Ala412Val(p.A412V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000336783
Start	28826895:28826895(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755684437
CDS Mutation	c.650C>T
AA Mutation	p.Ser217Leu(p.S217L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000336783
Start	28834634:28834634(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2374C>T
AA Mutation	p.Pro792Ser(p.P792S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000336783
Start	28830697:28830697(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754290857
CDS Mutation	c.1117C>T
AA Mutation	p.Arg373Trp(p.R373W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000336783
Start	28829907:28829907(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.883C>T
AA Mutation	p.Arg295Cys(p.R295C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000336783
Start	28836015:28836015(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2978C>G
AA Mutation	p.Pro993Arg(p.P993R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000336783
Start	28835653:28835653(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2790T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000336783
Start	28830634:28830634(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1054C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000336783
Start	28829963:28829963(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs145751891
CDS Mutation	c.939C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000336783
Start	28836029:28836029(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2997delG
AA Mutation	p.Gln1002LysfsTer50(p.Q1002Kfs*50)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000336783
Start	28833301:28833301(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1907delC
AA Mutation	p.Pro636ArgfsTer19(p.P636Rfs*19)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000336783
Start	28836035:28836035(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3004delC
AA Mutation	p.Gln1002LysfsTer50(p.Q1002Kfs*50)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	stop_gained
Transcription ID	ENST00000336783
Start	28830673:28830673(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1093C>T
AA Mutation	p.Arg365Ter(p.R365*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	stop_gained
Transcription ID	ENST00000336783
Start	28832501:28832501(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1522G>T
AA Mutation	p.Glu508Ter(p.E508*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	stop_gained
Transcription ID	ENST00000336783
Start	28825379:28825379(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.313G>T
AA Mutation	p.Gly105Ter(p.G105*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000336783
Start	28832387:28832388(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1509dupC
AA Mutation	p.Thr504HisfsTer33(p.T504Hfs*33)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000336783
Start	28830975:28830986(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1224_1235delGTCCCCAAAGGC
AA Mutation	p.Met408_Ala412delinsIle(p.M408_A412delinsI)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Rectum Cancer: Gene >> ATXN2L

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000336783
Start	28829986:28829986(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.962G>A
AA Mutation	p.Arg321His(p.R321H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000336783
Start	28829892:28829892(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.868C>T
AA Mutation	p.Arg290Cys(p.R290C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000336783
Start	28834529:28834529(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2269G>A
AA Mutation	p.Asp757Asn(p.D757N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000336783
Start	28836029:28836029(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2997delG
AA Mutation	p.Gln1002LysfsTer50(p.Q1002Kfs*50)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript