Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> GLI2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120978548:120978548(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1483C>T
AA Mutation	p.Arg495Trp(p.R495W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120990253:120990253(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4339T>G
AA Mutation	p.Tyr1447Asp(p.Y1447D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120989933:120989933(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4019T>A
AA Mutation	p.Val1340Asp(p.V1340D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120984570:120984570(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768557650
CDS Mutation	c.1783G>A
AA Mutation	p.Val595Ile(p.V595I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120989912:120989912(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3998G>A
AA Mutation	p.Ser1333Asn(p.S1333N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120990379:120990379(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773996121
CDS Mutation	c.4465C>T
AA Mutation	p.Pro1489Ser(p.P1489S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120990541:120990541(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141573066
CDS Mutation	c.4627C>T
AA Mutation	p.Arg1543Cys(p.R1543C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120989312:120989312(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771760319
CDS Mutation	c.3398C>T
AA Mutation	p.Ala1133Val(p.A1133V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120975069:120975069(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1328A>G
AA Mutation	p.Asp443Gly(p.D443G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120955350:120955350(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs147419287
CDS Mutation	c.563C>T
AA Mutation	p.Ala188Val(p.A188V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120990094:120990094(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4180G>T
AA Mutation	p.Ala1394Ser(p.A1394S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120989895:120989895(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3981C>G
AA Mutation	p.His1327Gln(p.H1327Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120988918:120988918(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3004G>A
AA Mutation	p.Ala1002Thr(p.A1002T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120989240:120989240(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3326G>T
AA Mutation	p.Arg1109Met(p.R1109M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120986429:120986429(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750226645
CDS Mutation	c.2108G>A
AA Mutation	p.Gly703Glu(p.G703E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120927427:120927427(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.215G>A
AA Mutation	p.Arg72Lys(p.R72K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120968861:120968861(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.791G>A
AA Mutation	p.Arg264Gln(p.R264Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120990284:120990284(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4370A>G
AA Mutation	p.Asp1457Gly(p.D1457G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120978522:120978522(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767030770
CDS Mutation	c.1457C>T
AA Mutation	p.Ala486Val(p.A486V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120968755:120968755(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751614251
CDS Mutation	c.685C>T
AA Mutation	p.Arg229Cys(p.R229C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361492
Start	120955423:120955423(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755982802
CDS Mutation	c.636C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361492
Start	120990291:120990291(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4377C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361492
Start	120972039:120972039(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141647925
CDS Mutation	c.1158G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361492
Start	120989253:120989253(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3339G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361492
Start	120989190:120989190(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3276C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361492
Start	120990219:120990219(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs140565050
CDS Mutation	c.4305C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361492
Start	120986580:120986580(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372206751
CDS Mutation	c.2259G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361492
Start	120951414:120951414(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.426C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361492
Start	120990450:120990450(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs367813164
CDS Mutation	c.4536C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361492
Start	120989106:120989106(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756394134
CDS Mutation	c.3192C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361492
Start	120972018:120972018(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1137C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000361492
Start	120990074:120990074(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.4160delG
AA Mutation	p.Arg1387LeufsTer143(p.R1387Lfs*143)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	stop_gained
Transcription ID	ENST00000361492
Start	120989590:120989590(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3676C>T
AA Mutation	p.Arg1226Ter(p.R1226*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> GLI2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120986579:120986579(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2258C>T
AA Mutation	p.Thr753Met(p.T753M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120990277:120990277(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs772550425
CDS Mutation	c.4363G>A
AA Mutation	p.Glu1455Lys(p.E1455K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120986581:120986581(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138932004
CDS Mutation	c.2260C>T
AA Mutation	p.Arg754Trp(p.R754W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120982789:120982789(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1592A>C
AA Mutation	p.Lys531Thr(p.K531T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000361492
Start	120990374:120990374(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4460C>A
AA Mutation	p.Pro1487His(p.P1487H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361492
Start	120968835:120968835(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200901345
CDS Mutation	c.765G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361492
Start	120971964:120971964(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138680216
CDS Mutation	c.1083C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361492
Start	120955351:120955351(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201287742
CDS Mutation	c.564G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361492
Start	120989130:120989130(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs557121635
CDS Mutation	c.3216G>A
Mutation Classification	Silent
Feature Type	Transcript