Colon Cancer: Gene >> SMC1A

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53405076:53405076(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs782176647
CDS Mutation	c.2132G>T
AA Mutation	p.Arg711Leu(p.R711L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53412117:53412117(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.991G>T
AA Mutation	p.Gly331Cys(p.G331C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53413261:53413261(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587784422
CDS Mutation	c.586C>T
AA Mutation	p.Arg196Cys(p.R196C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53380150:53380150(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3655G>A
AA Mutation	p.Asp1219Asn(p.D1219N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53403590:53403590(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2396G>A
AA Mutation	p.Arg799Gln(p.R799Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53405131:53405131(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2077C>T
AA Mutation	p.Arg693Trp(p.R693W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53405527:53405527(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587784407
CDS Mutation	c.1877G>A
AA Mutation	p.Arg626His(p.R626H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53380708:53380708(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3530A>G
AA Mutation	p.Gln1177Arg(p.Q1177R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53412051:53412051(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781862992
CDS Mutation	c.1057C>T
AA Mutation	p.Arg353Trp(p.R353W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53409482:53409482(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1276C>T
AA Mutation	p.Arg426Trp(p.R426W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53399599:53399599(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2552A>C
AA Mutation	p.Lys851Thr(p.K851T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53405362:53405362(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1941G>T
AA Mutation	p.Gln647His(p.Q647H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53413284:53413284(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.563G>A
AA Mutation	p.Arg188His(p.R188H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53382613:53382613(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3178G>A
AA Mutation	p.Glu1060Lys(p.E1060K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53413285:53413285(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.562C>T
AA Mutation	p.Arg188Cys(p.R188C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53412113:53412113(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.995A>T
AA Mutation	p.Asp332Val(p.D332V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53409135:53409135(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1472G>A
AA Mutation	p.Arg491His(p.R491H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53412195:53412195(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.913A>T
AA Mutation	p.Thr305Ser(p.T305S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53409082:53409082(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1525C>T
AA Mutation	p.Arg509Cys(p.R509C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322213
Start	53405359:53405359(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1944G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322213
Start	53409232:53409232(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1375C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	stop_gained
Transcription ID	ENST00000322213
Start	53405355:53405355(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1948G>T
AA Mutation	p.Gly650Ter(p.G650*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> SMC1A

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53411853:53411853(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1162A>G
AA Mutation	p.Thr388Ala(p.T388A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53405519:53405519(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1885G>A
AA Mutation	p.Ala629Thr(p.A629T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53409458:53409458(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1300C>T
AA Mutation	p.Arg434Trp(p.R434W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000322213
Start	53399626:53399626(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2525T>C
AA Mutation	p.Val842Ala(p.V842A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322213
Start	53405858:53405858(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1644C>T
Mutation Classification	Silent
Feature Type	Transcript