Colon Cancer: Gene >> NOD2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000300589
Start	50712178:50712178(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375713299
CDS Mutation	c.2267G>A
AA Mutation	p.Arg756Gln(p.R756Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000300589
Start	50719950:50719950(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2656G>A
AA Mutation	p.Ala886Thr(p.A886T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000300589
Start	50725552:50725552(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2946T>A
AA Mutation	p.Asn982Lys(p.N982K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000300589
Start	50711227:50711227(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs143110172
CDS Mutation	c.1316G>A
AA Mutation	p.Arg439His(p.R439H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000300589
Start	50711278:50711278(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1367T>C
AA Mutation	p.Leu456Pro(p.L456P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000300589
Start	50716670:50716670(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs104895486
CDS Mutation	c.2546C>T
AA Mutation	p.Ala849Val(p.A849V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000300589
Start	50711106:50711106(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755554858
CDS Mutation	c.1195G>A
AA Mutation	p.Asp399Asn(p.D399N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000300589
Start	50712279:50712279(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs62029861
CDS Mutation	c.2368C>T
AA Mutation	p.Arg790Trp(p.R790W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000300589
Start	50711170:50711170(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199475913
CDS Mutation	c.1259G>A
AA Mutation	p.Arg420His(p.R420H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000300589
Start	50699826:50699826(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs184502667
CDS Mutation	c.412C>T
AA Mutation	p.Arg138Trp(p.R138W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000300589
Start	50710769:50710769(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.858C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000300589
Start	50699549:50699549(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.135G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000300589
Start	50711420:50711420(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs767278572
CDS Mutation	c.1515delG
AA Mutation	p.Ser506ProfsTer11(p.S506Pfs*11)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000300589
Start	50711488:50711488(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs757534831
CDS Mutation	c.1583delC
AA Mutation	p.Pro528GlnfsTer235(p.P528Qfs*235)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000300589
Start	50711419:50711420(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs754761524
CDS Mutation	c.1515dupG
AA Mutation	p.Ser506ValfsTer73(p.S506Vfs*73)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000300589
Start	50729816:50729816(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2967-2A>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000300589
Start	50716976:50716976(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2630+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> NOD2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000300589
Start	50711571:50711571(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1660G>A
AA Mutation	p.Ala554Thr(p.A554T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000300589
Start	50699740:50699740(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.326A>G
AA Mutation	p.Glu109Gly(p.E109G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000300589
Start	50710887:50710887(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.976C>A
AA Mutation	p.Leu326Ile(p.L326I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000300589
Start	50712366:50712366(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2455G>A
AA Mutation	p.Ala819Thr(p.A819T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000300589
Start	50716592:50716592(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768930237
CDS Mutation	c.2468G>A
AA Mutation	p.Arg823His(p.R823H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000300589
Start	50699573:50699573(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769855133
CDS Mutation	c.159C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000300589
Start	50711561:50711561(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1650G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000300589
Start	50710742:50710742(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.831C>T
Mutation Classification	Silent
Feature Type	Transcript