Colon Cancer: Gene >> COL5A3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9974383:9974383(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3368G>C
AA Mutation	p.Arg1123Pro(p.R1123P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9967384:9967384(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370182126
CDS Mutation	c.4421G>A
AA Mutation	p.Arg1474His(p.R1474H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	10005943:10005943(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.290G>A
AA Mutation	p.Arg97Gln(p.R97Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9974218:9974218(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3457C>A
AA Mutation	p.Pro1153Thr(p.P1153T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9977462:9977462(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3137G>C
AA Mutation	p.Gly1046Ala(p.G1046A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9977685:9977685(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753887905
CDS Mutation	c.3035G>A
AA Mutation	p.Arg1012His(p.R1012H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9981098:9981098(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2495G>A
AA Mutation	p.Arg832Gln(p.R832Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	10006081:10006081(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.239T>G
AA Mutation	p.Leu80Arg(p.L80R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9974345:9974345(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs557640184
CDS Mutation	c.3406G>A
AA Mutation	p.Gly1136Arg(p.G1136R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	10005623:10005623(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780192950
CDS Mutation	c.529C>T
AA Mutation	p.Arg177Cys(p.R177C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	10004103:10004103(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.637G>A
AA Mutation	p.Ala213Thr(p.A213T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9998110:9998110(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1150A>T
AA Mutation	p.Ile384Phe(p.I384F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9978945:9978945(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2910A>C
AA Mutation	p.Glu970Asp(p.E970D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	10004052:10004052(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.688G>A
AA Mutation	p.Ala230Thr(p.A230T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9978581:9978581(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3011G>A
AA Mutation	p.Gly1004Glu(p.G1004E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	10003584:10003584(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.830C>T
AA Mutation	p.Pro277Leu(p.P277L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9968408:9968408(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370896010
CDS Mutation	c.4291C>T
AA Mutation	p.Pro1431Ser(p.P1431S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9977466:9977466(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs571460759
CDS Mutation	c.3133C>T
AA Mutation	p.Arg1045Cys(p.R1045C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9974360:9974360(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3391C>A
AA Mutation	p.Gln1131Lys(p.Q1131K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9993665:9993665(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138241329
CDS Mutation	c.1649G>A
AA Mutation	p.Arg550His(p.R550H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	10003596:10003596(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.818C>T
AA Mutation	p.Ser273Leu(p.S273L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000264828
Start	9968457:9968457(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs537422545
CDS Mutation	c.4242G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000264828
Start	10001777:10001777(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs551629422
CDS Mutation	c.954G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000264828
Start	9960870:9960870(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201892356
CDS Mutation	c.4872C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000264828
Start	9977416:9977416(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3183G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000264828
Start	9960459:9960459(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5190G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000264828
Start	9977232:9977232(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs117853631
CDS Mutation	c.3285C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000264828
Start	9977456:9977456(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs771976753
CDS Mutation	c.3143delC
AA Mutation	p.Pro1048LeufsTer96(p.P1048Lfs*96)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> COL5A3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9970671:9970671(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748724681
CDS Mutation	c.3887C>T
AA Mutation	p.Pro1296Leu(p.P1296L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9960527:9960527(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs563109290
CDS Mutation	c.5122G>A
AA Mutation	p.Glu1708Lys(p.E1708K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9971234:9971234(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3799C>A
AA Mutation	p.Leu1267Ile(p.L1267I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9974372:9974372(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3379G>T
AA Mutation	p.Gly1127Cys(p.G1127C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	10003622:10003622(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.792G>T
AA Mutation	p.Arg264Ser(p.R264S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000264828
Start	9979409:9979409(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747523076
CDS Mutation	c.2721A>C
AA Mutation	p.Gln907His(p.Q907H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000264828
Start	9978951:9978951(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2904G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000264828
Start	9979394:9979394(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199880497
CDS Mutation	c.2736G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	stop_gained;splice_region_variant
Transcription ID	ENST00000264828
Start	10001770:10001770(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.961G>T
AA Mutation	p.Glu321Ter(p.E321*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript