Colon Cancer: Gene >> MARVELD2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000325631
Start	69419623:69419623(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.238C>T
AA Mutation	p.Arg80Cys(p.R80C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000325631
Start	69419707:69419707(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.322T>C
AA Mutation	p.Tyr108His(p.Y108H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000325631
Start	69419999:69419999(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.614C>G
AA Mutation	p.Ala205Gly(p.A205G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000325631
Start	69441602:69441602(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1625G>T
AA Mutation	p.Arg542Ile(p.R542I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000325631
Start	69441548:69441548(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756327348
CDS Mutation	c.1571A>G
AA Mutation	p.Glu524Gly(p.E524G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000325631
Start	69419768:69419768(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752573907
CDS Mutation	c.383C>T
AA Mutation	p.Ser128Leu(p.S128L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000325631
Start	69420135:69420135(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.750C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000325631
Start	69419994:69419994(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.613delG
AA Mutation	p.Ala205ProfsTer58(p.A205Pfs*58)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000325631
Start	69441548:69441548(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1578delA
AA Mutation	p.Glu527AsnfsTer6(p.E527Nfs*6)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000325631
Start	69432628:69432628(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1289delC
AA Mutation	p.Pro430GlnfsTer9(p.P430Qfs*9)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000325631
Start	69420318:69420319(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.935_936delTG
AA Mutation	p.Val312GlufsTer2(p.V312Efs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000325631
Start	69441547:69441548(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.1578dupA
AA Mutation	p.Glu527ArgfsTer4(p.E527Rfs*4)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000325631
Start	69420003:69420004(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.618_619insCTA
AA Mutation	p.Gly206_Val207insLeu(p.G206_V207insL)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> MARVELD2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000325631
Start	69419646:69419646(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.261G>T
AA Mutation	p.Lys87Asn(p.K87N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000325631
Start	69440464:69440464(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1518T>G
AA Mutation	p.Ile506Met(p.I506M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	stop_gained
Transcription ID	ENST00000325631
Start	69419893:69419893(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs149942219
CDS Mutation	c.508C>T
AA Mutation	p.Arg170Ter(p.R170*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript