Colon Cancer: Gene >> SLC12A1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48232817:48232817(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1066A>G
AA Mutation	p.Arg356Gly(p.R356G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48207923:48207923(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.204G>T
AA Mutation	p.Glu68Asp(p.E68D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48230403:48230403(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201820156
CDS Mutation	c.875C>T
AA Mutation	p.Ser292Leu(p.S292L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48207804:48207804(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.85A>G
AA Mutation	p.Asn29Asp(p.N29D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48269738:48269738(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2376G>T
AA Mutation	p.Glu792Asp(p.E792D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48229294:48229294(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.830T>C
AA Mutation	p.Val277Ala(p.V277A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48301326:48301326(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3108A>C
AA Mutation	p.Gln1036His(p.Q1036H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48249608:48249608(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1718A>T
AA Mutation	p.Asn573Ile(p.N573I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48251673:48251673(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1845G>C
AA Mutation	p.Leu615Phe(p.L615F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48229293:48229293(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.829G>A
AA Mutation	p.Val277Met(p.V277M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48274576:48274576(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2408C>T
AA Mutation	p.Ala803Val(p.A803V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48274608:48274608(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2440A>G
AA Mutation	p.Arg814Gly(p.R814G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48291855:48291855(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2951A>C
AA Mutation	p.Asn984Thr(p.N984T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48208065:48208065(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.346C>T
AA Mutation	p.Arg116Cys(p.R116C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48229317:48229317(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.853G>T
AA Mutation	p.Asp285Tyr(p.D285Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48267688:48267688(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs144177117
CDS Mutation	c.2282G>A
AA Mutation	p.Arg761Gln(p.R761Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48207937:48207937(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.218T>C
AA Mutation	p.Phe73Ser(p.F73S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48247440:48247440(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1664C>T
AA Mutation	p.Ala555Val(p.A555V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48299174:48299174(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768502275
CDS Mutation	c.2995C>T
AA Mutation	p.Arg999Cys(p.R999C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48301331:48301331(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141652885
CDS Mutation	c.3113G>A
AA Mutation	p.Arg1038Gln(p.R1038Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48267604:48267604(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141858745
CDS Mutation	c.2198C>T
AA Mutation	p.Ala733Val(p.A733V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48244864:48244864(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369307402
CDS Mutation	c.1412G>A
AA Mutation	p.Arg471Gln(p.R471Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380993
Start	48301374:48301374(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3156C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380993
Start	48230404:48230404(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs147034737
CDS Mutation	c.876G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380993
Start	48244778:48244778(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769836162
CDS Mutation	c.1326C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000380993
Start	48234945:48234946(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.1163dupT
AA Mutation	p.Ala390SerfsTer58(p.A390Sfs*58)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000380993
Start	48230391:48230391(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.865-2A>G
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000380993
Start	48255911:48255911(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2042+1G>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000380993
Start	48232733:48232744(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.993_1004delGGTCATTCTTCT
AA Mutation	p.Val332_Leu335del(p.V332_L335del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000380993
Start	48267698:48267699(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2292_2293insAACACA
AA Mutation	p.Leu764_Gln765insAsnThr(p.L764_Q765insNT)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> SLC12A1

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000380993
Start	48269659:48269659(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2297C>A
AA Mutation	p.Ala766Asp(p.A766D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000380993
Start	48226478:48226478(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.631C>A
AA Mutation	p.Leu211Ile(p.L211I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48232771:48232771(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1020C>A
AA Mutation	p.Asn340Lys(p.N340K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48234907:48234907(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs150258541
CDS Mutation	c.1118G>A
AA Mutation	p.Arg373His(p.R373H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000380993
Start	48267696:48267696(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2290C>A
AA Mutation	p.Leu764Ile(p.L764I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000380993
Start	48285243:48285243(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2628delA
AA Mutation	p.Asp877MetfsTer46(p.D877Mfs*46)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000380993
Start	48220656:48220656(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.443C>A
AA Mutation	p.Ser148Ter(p.S148*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript