Colon Cancer: Gene >> COL6A2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46124894:46124894(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750533442
CDS Mutation	c.1744G>A
AA Mutation	p.Gly582Ser(p.G582S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46132119:46132119(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2627G>A
AA Mutation	p.Arg876His(p.R876H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46112332:46112332(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756242788
CDS Mutation	c.469G>A
AA Mutation	p.Ala157Thr(p.A157T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46126127:46126127(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2312A>C
AA Mutation	p.Asn771Thr(p.N771T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46119106:46119106(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778932545
CDS Mutation	c.1256C>T
AA Mutation	p.Pro419Leu(p.P419L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46132302:46132302(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777354703
CDS Mutation	c.2810G>A
AA Mutation	p.Arg937Gln(p.R937Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46132374:46132374(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138674440
CDS Mutation	c.2882C>T
AA Mutation	p.Ala961Val(p.A961V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46112000:46112000(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.137A>G
AA Mutation	p.His46Arg(p.H46R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46118653:46118653(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1156G>A
AA Mutation	p.Glu386Lys(p.E386K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46119100:46119100(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371383704
CDS Mutation	c.1250G>A
AA Mutation	p.Arg417His(p.R417H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46132301:46132301(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755352246
CDS Mutation	c.2809C>T
AA Mutation	p.Arg937Trp(p.R937W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46132289:46132289(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2797C>T
AA Mutation	p.Arg933Cys(p.R933C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46112248:46112248(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374805550
CDS Mutation	c.385C>T
AA Mutation	p.Arg129Cys(p.R129C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46112335:46112335(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201792591
CDS Mutation	c.472G>A
AA Mutation	p.Val158Met(p.V158M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46112113:46112113(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.250G>A
AA Mutation	p.Glu84Lys(p.E84K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46117896:46117896(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1076A>G
AA Mutation	p.Glu359Gly(p.E359G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46125995:46125995(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2180C>T
AA Mutation	p.Ala727Val(p.A727V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46132083:46132083(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200488881
CDS Mutation	c.2591C>T
AA Mutation	p.Thr864Met(p.T864M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46112239:46112239(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.376A>G
AA Mutation	p.Ser126Gly(p.S126G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000300527
Start	46132409:46132409(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs145959270
CDS Mutation	c.2917G>A
AA Mutation	p.Val973Met(p.V973M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000300527
Start	46126053:46126053(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs535581551
CDS Mutation	c.2238G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000300527
Start	46132294:46132294(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs151295731
CDS Mutation	c.2802C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000300527
Start	46132204:46132204(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139116075
CDS Mutation	c.2712G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000300527
Start	46132339:46132339(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369129061
CDS Mutation	c.2847C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000300527
Start	46116388:46116388(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.912C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000300527
Start	46112427:46112427(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.564C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000300527
Start	46124896:46124896(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1751delC
AA Mutation	p.Pro584LeufsTer12(p.P584Lfs*12)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	stop_gained
Transcription ID	ENST00000300527
Start	46125805:46125805(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1990C>T
AA Mutation	p.Gln664Ter(p.Q664*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> COL6A2

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000300527
Start	46124652:46124652(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376303610
CDS Mutation	c.1673C>T
AA Mutation	p.Ala558Val(p.A558V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000300527
Start	46112082:46112082(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374336669
CDS Mutation	c.219C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000300527
Start	46132171:46132171(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748286207
CDS Mutation	c.2679G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000300527
Start	46118613:46118613(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1120delG
AA Mutation	p.Asp374ThrfsTer34(p.X374_splice)
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000300527
Start	46120514:46120514(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1336delG
AA Mutation	p.Asp446ThrfsTer99(p.X446_splice)
Mutation Classification	Splice_Site
Feature Type	Transcript