Colon Cancer: Gene >> DROSHA

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31401533:31401533(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4024C>T
AA Mutation	p.Arg1342Trp(p.R1342W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31511055:31511055(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754562615
CDS Mutation	c.1412C>T
AA Mutation	p.Thr471Met(p.T471M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31421288:31421288(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3509A>G
AA Mutation	p.His1170Arg(p.H1170R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31421344:31421344(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3453C>A
AA Mutation	p.Asp1151Glu(p.D1151E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31472197:31472197(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2107C>A
AA Mutation	p.Leu703Ile(p.L703I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31449304:31449304(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2798A>C
AA Mutation	p.His933Pro(p.H933P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31511142:31511142(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1325G>A
AA Mutation	p.Arg442His(p.R442H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31410760:31410760(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3653C>T
AA Mutation	p.Ala1218Val(p.A1218V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31449335:31449335(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766022493
CDS Mutation	c.2767C>T
AA Mutation	p.Arg923Trp(p.R923W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31468022:31468022(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2283G>T
AA Mutation	p.Gln761His(p.Q761H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31409281:31409281(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3719T>C
AA Mutation	p.Phe1240Ser(p.F1240S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000344624
Start	31472064:31472064(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs202101007
CDS Mutation	c.2240C>T
AA Mutation	p.Thr747Met(p.T747M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31526431:31526431(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.502T>C
AA Mutation	p.Tyr168His(p.Y168H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31526905:31526905(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.28A>G
AA Mutation	p.Met10Val(p.M10V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31504578:31504578(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1645C>T
AA Mutation	p.His549Tyr(p.H549Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31435778:31435778(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3029C>A
AA Mutation	p.Ala1010Asp(p.A1010D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31424465:31424465(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376727217
CDS Mutation	c.3223C>T
AA Mutation	p.Arg1075Cys(p.R1075C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31429497:31429497(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3194G>C
AA Mutation	p.Gly1065Ala(p.G1065A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344624
Start	31449351:31449351(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs542989519
CDS Mutation	c.2751A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344624
Start	31511105:31511105(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1362C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344624
Start	31483597:31483597(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2028C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344624
Start	31410876:31410876(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3537C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344624
Start	31526726:31526726(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.207C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000344624
Start	31526463:31526463(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.470delC
AA Mutation	p.Pro157LeufsTer69(p.P157Lfs*69)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000344624
Start	31521143:31521143(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.927delA
AA Mutation	p.Glu310SerfsTer42(p.E310Sfs*42)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	stop_gained
Transcription ID	ENST00000344624
Start	31515176:31515176(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1102G>T
AA Mutation	p.Glu368Ter(p.E368*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	stop_gained
Transcription ID	ENST00000344624
Start	31464304:31464304(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2506C>T
AA Mutation	p.Arg836Ter(p.R836*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	stop_gained
Transcription ID	ENST00000344624
Start	31526710:31526710(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762001670
CDS Mutation	c.223C>T
AA Mutation	p.Arg75Ter(p.R75*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	stop_gained
Transcription ID	ENST00000344624
Start	31486508:31486508(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1897G>T
AA Mutation	p.Glu633Ter(p.E633*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000344624
Start	31493214:31493215(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.1834dupC
AA Mutation	p.Leu612ProfsTer8(p.L612Pfs*8)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000344624
Start	31511157:31511158(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1301_1309dupCAGTGGTTG
AA Mutation	p.Val436_Gly437insAlaValVal(p.V436_G437insAVV)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> DROSHA

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31515037:31515037(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752147785
CDS Mutation	c.1241G>A
AA Mutation	p.Arg414Gln(p.R414Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000344624
Start	31422922:31422922(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3284G>A
AA Mutation	p.Arg1095Gln(p.R1095Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344624
Start	31464299:31464299(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2511A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344624
Start	31486521:31486521(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1884G>A
Mutation Classification	Silent
Feature Type	Transcript