Colon Cancer: Gene >> CFTR

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117559531:117559531(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1460G>T
AA Mutation	p.Arg487Ile(p.R487I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117627658:117627658(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3605A>G
AA Mutation	p.Asp1202Gly(p.D1202G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117540315:117540315(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1085A>C
AA Mutation	p.Tyr362Ser(p.Y362S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117666989:117666989(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4324A>C
AA Mutation	p.Ser1442Arg(p.S1442R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117536643:117536643(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.839C>T
AA Mutation	p.Ala280Val(p.A280V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117592118:117592118(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780526529
CDS Mutation	c.1951G>A
AA Mutation	p.Asp651Asn(p.D651N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117602853:117602853(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2647C>T
AA Mutation	p.Leu883Phe(p.L883F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117480132:117480132(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.38C>A
AA Mutation	p.Ser13Tyr(p.S13Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117603743:117603743(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2869C>T
AA Mutation	p.Leu957Phe(p.L957F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117611668:117611668(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3227C>A
AA Mutation	p.Thr1076Asn(p.T1076N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117610567:117610567(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3037C>T
AA Mutation	p.Pro1013Ser(p.P1013S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117587759:117587759(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1605G>T
AA Mutation	p.Glu535Asp(p.E535D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117606693:117606693(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776948957
CDS Mutation	c.2928C>A
AA Mutation	p.Phe976Leu(p.F976L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000003084
Start	117652862:117652862(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3894A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000003084
Start	117592339:117592339(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368599862
CDS Mutation	c.2172C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000003084
Start	117627662:117627662(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3609C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000003084
Start	117642527:117642527(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs1800129
CDS Mutation	c.3807C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000003084
Start	117627672:117627672(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.3623delG
AA Mutation	p.Gly1208AlafsTer3(p.G1208Afs*3)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000003084
Start	117652852:117652852(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.3889delT
AA Mutation	p.Ser1297LeufsTer31(p.S1297Lfs*31)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	stop_gained
Transcription ID	ENST00000003084
Start	117594990:117594990(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121909012
CDS Mutation	c.2551C>T
AA Mutation	p.Arg851Ter(p.R851*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	stop_gained
Transcription ID	ENST00000003084
Start	117592146:117592146(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1979C>A
AA Mutation	p.Ser660Ter(p.S660*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	stop_gained;splice_region_variant
Transcription ID	ENST00000003084
Start	117611808:117611808(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3367G>T
AA Mutation	p.Gly1123Ter(p.G1123*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	stop_gained;inframe_insertion
Transcription ID	ENST00000003084
Start	117610659:117610660(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.3129_3130insTAA
AA Mutation	p.Leu1043_Glu1044insTer(p.L1043_E1044ins*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000003084
Start	117642487:117642488(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs387906370
CDS Mutation	c.3773dupT
AA Mutation	p.Leu1258PhefsTer7(p.L1258Ffs*7)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000003084
Start	117610661:117610662(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.3131_3132insTCAAAGAAAAC
AA Mutation	p.Glu1044AspfsTer20(p.E1044Dfs*20)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000003084
Start	117592248:117592249(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2081_2082insAGTTCT
AA Mutation	p.Gly694_Glu695insValLeu(p.G694_E695insVL)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> CFTR

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117590372:117590372(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1699G>A
AA Mutation	p.Asp567Asn(p.D567N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117603609:117603609(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121909034
CDS Mutation	c.2735C>T
AA Mutation	p.Ser912Leu(p.S912L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117587755:117587755(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1601C>T
AA Mutation	p.Ala534Val(p.A534V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117548687:117548687(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1256G>T
AA Mutation	p.Arg419Ile(p.R419I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117587815:117587815(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121909022
CDS Mutation	c.1661C>A
AA Mutation	p.Ala554Glu(p.A554E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000003084
Start	117610621:117610621(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3091G>A
AA Mutation	p.Ala1031Thr(p.A1031T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000003084
Start	117642527:117642527(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs1800129
CDS Mutation	c.3807C>T
Mutation Classification	Silent
Feature Type	Transcript