Colon Cancer: Gene >> GBE1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000429644
Start	81705554:81705554(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.203A>C
AA Mutation	p.Lys68Thr(p.K68T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000429644
Start	81593953:81593953(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780431086
CDS Mutation	c.1063C>T
AA Mutation	p.Arg355Cys(p.R355C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000429644
Start	81642802:81642802(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764115648
CDS Mutation	c.971G>A
AA Mutation	p.Ser324Asn(p.S324N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000429644
Start	81593929:81593929(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1087C>T
AA Mutation	p.Leu363Phe(p.L363F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000429644
Start	81642988:81642988(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369574719
CDS Mutation	c.785G>A
AA Mutation	p.Arg262His(p.R262H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000429644
Start	81649895:81649895(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.456G>T
AA Mutation	p.Glu152Asp(p.E152D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000429644
Start	81499126:81499126(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758188572
CDS Mutation	c.2036G>A
AA Mutation	p.Arg679His(p.R679H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000429644
Start	81535271:81535271(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1858G>A
AA Mutation	p.Gly620Ser(p.G620S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000429644
Start	81761448:81761448(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.70G>A
AA Mutation	p.Asp24Asn(p.D24N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000429644
Start	81586119:81586119(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1308C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000429644
Start	81649901:81649901(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766421967
CDS Mutation	c.450C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000429644
Start	81586122:81586122(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1305A>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000429644
Start	81581174:81581174(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1437C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000429644
Start	81586141:81586141(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1286delG
AA Mutation	p.Gly429ValfsTer7(p.G429Vfs*7)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000429644
Start	81499151:81499151(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs780374709
CDS Mutation	c.2011delT
AA Mutation	p.Ser671LeufsTer36(p.S671Lfs*36)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	stop_gained
Transcription ID	ENST00000429644
Start	81705489:81705489(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.268G>T
AA Mutation	p.Glu90Ter(p.E90*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000429644
Start	81535270:81535271(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1858_1859insCCTTA
AA Mutation	p.Gly620AlafsTer33(p.G620Afs*33)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> GBE1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000429644
Start	81670922:81670922(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.345A>C
AA Mutation	p.Lys115Asn(p.K115N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	stop_gained
Transcription ID	ENST00000429644
Start	81577973:81577973(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs137852888
CDS Mutation	c.1570C>T
AA Mutation	p.Arg524Ter(p.R524*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	stop_gained
Transcription ID	ENST00000429644
Start	81537008:81537008(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1706T>G
AA Mutation	p.Leu569Ter(p.L569*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript