Colon Cancer: Gene >> IFT172

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27477247:27477247(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1295G>A
AA Mutation	p.Arg432His(p.R432H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27480102:27480102(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.833C>G
AA Mutation	p.Ala278Gly(p.A278G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27446294:27446294(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4721A>G
AA Mutation	p.Asp1574Gly(p.D1574G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27449377:27449377(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4228G>A
AA Mutation	p.Val1410Met(p.V1410M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27461493:27461493(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs187728607
CDS Mutation	c.2218C>T
AA Mutation	p.Arg740Cys(p.R740C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27463105:27463105(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201921339
CDS Mutation	c.2014C>T
AA Mutation	p.Arg672Trp(p.R672W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27458822:27458822(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2834T>C
AA Mutation	p.Ile945Thr(p.I945T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27483889:27483889(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.385G>A
AA Mutation	p.Gly129Arg(p.G129R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27461490:27461490(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2221C>T
AA Mutation	p.Arg741Cys(p.R741C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27454646:27454646(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3386C>T
AA Mutation	p.Ala1129Val(p.A1129V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27445314:27445314(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5050C>A
AA Mutation	p.Leu1684Met(p.L1684M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000260570
Start	27454658:27454658(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3374C>T
AA Mutation	p.Ser1125Phe(p.S1125F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27454632:27454632(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139223261
CDS Mutation	c.3400C>T
AA Mutation	p.Arg1134Trp(p.R1134W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27485384:27485384(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768058682
CDS Mutation	c.159C>A
AA Mutation	p.Phe53Leu(p.F53L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27458825:27458825(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759597621
CDS Mutation	c.2831C>T
AA Mutation	p.Ala944Val(p.A944V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27454133:27454133(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3560C>T
AA Mutation	p.Ala1187Val(p.A1187V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27454605:27454605(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs144121974
CDS Mutation	c.3427G>A
AA Mutation	p.Glu1143Lys(p.E1143K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000260570
Start	27481075:27481075(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.756C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000260570
Start	27461777:27461777(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs535676099
CDS Mutation	c.2175C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000260570
Start	27462704:27462704(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2112A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000260570
Start	27447575:27447575(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4599G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000260570
Start	27480128:27480128(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.807C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000260570
Start	27481076:27481076(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.755delG
AA Mutation	p.Gly252AlafsTer6(p.G252Afs*6)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	stop_gained
Transcription ID	ENST00000260570
Start	27445320:27445320(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5044C>T
AA Mutation	p.Arg1682Ter(p.R1682*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	stop_gained
Transcription ID	ENST00000260570
Start	27476701:27476701(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1351C>T
AA Mutation	p.Arg451Ter(p.R451*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000260570
Start	27465466:27465467(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1877_1881dupCAATG
AA Mutation	p.Trp628GlnfsTer6(p.W628Qfs*6)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000260570
Start	27461095:27461095(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2443-2A>G
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000260570
Start	27485504:27485504(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.40-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000260570
Start	27445106:27445106(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5069-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> IFT172

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000260570
Start	27477561:27477561(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1219A>G
AA Mutation	p.Asn407Asp(p.N407D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27461345:27461345(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148237432
CDS Mutation	c.2366G>A
AA Mutation	p.Arg789Gln(p.R789Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27461476:27461476(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2235G>T
AA Mutation	p.Gln745His(p.Q745H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27445945:27445945(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4799T>G
AA Mutation	p.Phe1600Cys(p.F1600C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27449520:27449520(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4203G>T
AA Mutation	p.Lys1401Asn(p.K1401N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000260570
Start	27465786:27465786(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1789A>G
AA Mutation	p.Ile597Val(p.I597V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript