Colon Cancer: Gene >> EFCAB8

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000400522
Start	32893293:32893293(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.878A>C
AA Mutation	p.Lys293Thr(p.K293T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000618684
Start	32875940:32875940(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.223G>A
AA Mutation	p.Ala75Thr(p.A75T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000400522
Start	32912849:32912849(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1841G>T
AA Mutation	p.Arg614Ile(p.R614I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000400522
Start	32908339:32908339(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1373C>A
AA Mutation	p.Ala458Asp(p.A458D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000400522
Start	32893241:32893241(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.826G>A
AA Mutation	p.Glu276Lys(p.E276K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000400522
Start	32920184:32920184(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2381T>A
AA Mutation	p.Met794Lys(p.M794K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000400522
Start	32893223:32893223(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.808G>A
AA Mutation	p.Val270Ile(p.V270I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000400522
Start	32961203:32961203(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3461T>A
AA Mutation	p.Leu1154Gln(p.L1154Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000400522
Start	32906621:32906621(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1148A>G
AA Mutation	p.Asn383Ser(p.N383S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000618684
Start	32878756:32878756(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.380G>A
AA Mutation	p.Arg127Gln(p.R127Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000400522
Start	32909915:32909915(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1541G>A
AA Mutation	p.Ser514Asn(p.S514N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000400522
Start	32918427:32918427(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2127G>T
AA Mutation	p.Glu709Asp(p.E709D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000400522
Start	32911663:32911663(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1741A>G
AA Mutation	p.Ile581Val(p.I581V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000400522
Start	32959919:32959919(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3231C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000400522
Start	32911572:32911572(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1650C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000400522
Start	32889333:32889333(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.600G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	stop_gained
Transcription ID	ENST00000400522
Start	32908344:32908344(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1378G>T
AA Mutation	p.Gly460Ter(p.G460*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000400522
Start	32959919:32959920(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.3233dupG
AA Mutation	p.Glu1079ArgfsTer8(p.E1079Rfs*8)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000400522
Start	32906620:32906621(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1147_1148insT
AA Mutation	p.Asn383IlefsTer41(p.N383Ifs*41)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000400522
Start	32943665:32943666(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2826dupC
AA Mutation	p.Thr943HisfsTer12(p.T943Hfs*12)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> EFCAB8

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000400522
Start	32920127:32920127(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2324G>T
AA Mutation	p.Ser775Ile(p.S775I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000400522
Start	32930560:32930560(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2575G>T
AA Mutation	p.Ala859Ser(p.A859S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000400522
Start	32896467:32896467(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.897A>C
AA Mutation	p.Lys299Asn(p.K299N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript