Colon Cancer: Gene >> PLEK

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000234313
Start	68388424:68388424(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751465412
CDS Mutation	c.695A>G
AA Mutation	p.Asp232Gly(p.D232G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000234313
Start	68395803:68395803(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199764943
CDS Mutation	c.1040G>A
AA Mutation	p.Arg347Gln(p.R347Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000234313
Start	68393193:68393193(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.794A>C
AA Mutation	p.Lys265Thr(p.K265T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000234313
Start	68380425:68380425(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.140T>C
AA Mutation	p.Met47Thr(p.M47T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000234313
Start	68380742:68380742(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200352669
CDS Mutation	c.218C>T
AA Mutation	p.Thr73Met(p.T73M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000234313
Start	68394116:68394116(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.856C>T
AA Mutation	p.Pro286Ser(p.P286S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000234313
Start	68395755:68395755(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.996delC
AA Mutation	p.Lys333ArgfsTer29(p.K333Rfs*29)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000234313
Start	68393174:68393174(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.779delA
AA Mutation	p.Asn260ThrfsTer4(p.N260Tfs*4)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	stop_gained
Transcription ID	ENST00000234313
Start	68380879:68380879(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751935533
CDS Mutation	c.355C>T
AA Mutation	p.Arg119Ter(p.R119*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	stop_gained
Transcription ID	ENST00000234313
Start	68382585:68382585(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.424G>T
AA Mutation	p.Glu142Ter(p.E142*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> PLEK

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000234313
Start	68380826:68380826(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.302A>C
AA Mutation	p.Lys101Thr(p.K101T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000234313
Start	68395741:68395741(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.978C>A
AA Mutation	p.Phe326Leu(p.F326L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000234313
Start	68382575:68382575(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.414A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000234313
Start	68382593:68382593(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.432T>C
Mutation Classification	Silent
Feature Type	Transcript