Colon Cancer: Gene >> SPINK5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000256084
Start	148094451:148094451(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.764G>T
AA Mutation	p.Gly255Val(p.G255V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000256084
Start	148097899:148097899(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.915G>T
AA Mutation	p.Lys305Asn(p.K305N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000256084
Start	148125815:148125815(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746519307
CDS Mutation	c.2832C>A
AA Mutation	p.Phe944Leu(p.F944L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000256084
Start	148127075:148127075(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2960C>A
AA Mutation	p.Ser987Tyr(p.S987Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000256084
Start	148089546:148089546(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.527C>T
AA Mutation	p.Thr176Ile(p.T176I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000256084
Start	148086532:148086532(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.410C>T
AA Mutation	p.Ala137Val(p.A137V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000256084
Start	148131389:148131389(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3095T>A
AA Mutation	p.Leu1032Gln(p.L1032Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000256084
Start	148095904:148095904(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.881T>G
AA Mutation	p.Val294Gly(p.V294G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000256084
Start	148133855:148133855(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3154C>T
AA Mutation	p.Pro1052Ser(p.P1052S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000256084
Start	148097949:148097949(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.965A>G
AA Mutation	p.Asp322Gly(p.D322G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000256084
Start	148100511:148100511(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1150G>C
AA Mutation	p.Glu384Gln(p.E384Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000256084
Start	148086448:148086448(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.326T>G
AA Mutation	p.Phe109Cys(p.F109C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000256084
Start	148125742:148125742(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371134163
CDS Mutation	c.2759G>A
AA Mutation	p.Arg920Gln(p.R920Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000256084
Start	148101888:148101888(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1410C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000256084
Start	148112871:148112871(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1824G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000256084
Start	148101824:148101824(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs778763517
CDS Mutation	c.1351delT
AA Mutation	p.Cys451AlafsTer53(p.C451Afs*53)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	stop_gained
Transcription ID	ENST00000256084
Start	148123851:148123851(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753621591
CDS Mutation	c.2557C>T
AA Mutation	p.Arg853Ter(p.R853*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	stop_gained
Transcription ID	ENST00000256084
Start	148086423:148086423(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.301A>T
AA Mutation	p.Lys101Ter(p.K101*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	stop_gained
Transcription ID	ENST00000256084
Start	148124769:148124769(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749828824
CDS Mutation	c.2671C>T
AA Mutation	p.Arg891Ter(p.R891*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	stop_gained
Transcription ID	ENST00000256084
Start	148114412:148114412(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1938C>A
AA Mutation	p.Cys646Ter(p.C646*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000256084
Start	148133879:148133880(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.3178_3179insAGGA
AA Mutation	p.Pro1060GlnfsTer5(p.P1060Qfs*5)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000256084
Start	148097996:148097996(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1010+2T>G
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000256084
Start	148133889:148133889(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3186+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> SPINK5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000256084
Start	148101375:148101375(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1241A>C
AA Mutation	p.Lys414Thr(p.K414T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000256084
Start	148114434:148114434(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199567491
CDS Mutation	c.1960C>T
AA Mutation	p.Arg654Cys(p.R654C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	stop_gained
Transcription ID	ENST00000256084
Start	148123905:148123905(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2611C>T
AA Mutation	p.Arg871Ter(p.R871*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000256084
Start	148101410:148101410(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1276C>T
AA Mutation	p.Gln426Ter(p.Q426*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript