Colon Cancer: Gene >> PBRM1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52563455:52563455(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3914T>A
AA Mutation	p.Leu1305Gln(p.L1305Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52586523:52586523(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs143085435
CDS Mutation	c.3289G>A
AA Mutation	p.Val1097Met(p.V1097M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52609418:52609418(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2462C>A
AA Mutation	p.Thr821Lys(p.T821K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52658270:52658270(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.574G>A
AA Mutation	p.Ala192Thr(p.A192T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52609501:52609501(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2379G>T
AA Mutation	p.Gln793His(p.Q793H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52603673:52603673(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2627G>A
AA Mutation	p.Arg876His(p.R876H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52576673:52576673(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3559G>A
AA Mutation	p.Gly1187Arg(p.G1187R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52617354:52617354(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1726C>T
AA Mutation	p.Arg576Cys(p.R576C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52609374:52609374(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2506C>T
AA Mutation	p.Arg836Trp(p.R836W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52617380:52617380(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1700A>T
AA Mutation	p.Asp567Val(p.D567V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52628985:52628985(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1352A>G
AA Mutation	p.Asp451Gly(p.D451G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52587442:52587442(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3034T>G
AA Mutation	p.Phe1012Val(p.F1012V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52603674:52603674(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2626C>T
AA Mutation	p.Arg876Cys(p.R876C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000296302
Start	52576541:52576541(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3691G>A
AA Mutation	p.Gly1231Arg(p.G1231R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52564094:52564094(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3831T>G
AA Mutation	p.Phe1277Leu(p.F1277L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000296302
Start	52548222:52548222(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs527392994
CDS Mutation	c.4911C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000296302
Start	52576590:52576590(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3642A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000296302
Start	52678586:52678586(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.150C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000296302
Start	52587503:52587503(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2973delA
AA Mutation	p.Lys991AsnfsTer23(p.K991Nfs*23)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000296302
Start	52609927:52609927(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1953delA
AA Mutation	p.Lys651AsnfsTer5(p.K651Nfs*5)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000296302
Start	52563324:52563324(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.4045delC
AA Mutation	p.Leu1349TrpfsTer35(p.L1349Wfs*35)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000296302
Start	52644768:52644768(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs771618422
CDS Mutation	c.835delA
AA Mutation	p.Ile279TyrfsTer4(p.I279Yfs*4)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000296302
Start	52589171:52589171(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2864delA
AA Mutation	p.Asn955ThrfsTer59(p.N955Tfs*59)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	stop_gained
Transcription ID	ENST00000296302
Start	52644711:52644711(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.892C>T
AA Mutation	p.Arg298Ter(p.R298*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	stop_gained
Transcription ID	ENST00000296302
Start	52678564:52678564(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.172C>T
AA Mutation	p.Arg58Ter(p.R58*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	stop_gained
Transcription ID	ENST00000296302
Start	52644774:52644774(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.829A>T
AA Mutation	p.Lys277Ter(p.K277*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	stop_gained
Transcription ID	ENST00000296302
Start	52617390:52617390(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1690G>T
AA Mutation	p.Glu564Ter(p.E564*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	stop_gained
Transcription ID	ENST00000296302
Start	52617318:52617318(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1762G>T
AA Mutation	p.Glu588Ter(p.E588*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000296302
Start	52554771:52554772(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.4561dupC
AA Mutation	p.His1521ProfsTer95(p.H1521Pfs*95)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> PBRM1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52609383:52609383(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs146395938
CDS Mutation	c.2497C>T
AA Mutation	p.Arg833Cys(p.R833C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52548161:52548161(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4972G>T
AA Mutation	p.Ala1658Ser(p.A1658S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52563417:52563417(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199643728
CDS Mutation	c.3952G>A
AA Mutation	p.Glu1318Lys(p.E1318K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52603674:52603674(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2626C>T
AA Mutation	p.Arg876Cys(p.R876C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52628956:52628956(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779427834
CDS Mutation	c.1381C>T
AA Mutation	p.Arg461Cys(p.R461C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000296302
Start	52634661:52634661(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1242G>T
AA Mutation	p.Lys414Asn(p.K414N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000296302
Start	52668585:52668585(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.297G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	stop_gained
Transcription ID	ENST00000296302
Start	52576679:52576679(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3553C>T
AA Mutation	p.Arg1185Ter(p.R1185*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript