Colon Cancer: Gene >> PRKDC

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47783773:47783773(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11144A>G
AA Mutation	p.Tyr3715Cys(p.Y3715C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000314191
Start	47936516:47936516(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778630373
CDS Mutation	c.1115C>T
AA Mutation	p.Pro372Leu(p.P372L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000314191
Start	47934089:47934089(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1499G>A
AA Mutation	p.Gly500Asp(p.G500D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47953826:47953826(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.602T>C
AA Mutation	p.Leu201Pro(p.L201P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47860967:47860967(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5990C>A
AA Mutation	p.Pro1997His(p.P1997H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47933113:47933113(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1683T>A
AA Mutation	p.Asn561Lys(p.N561K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47889021:47889021(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4273G>A
AA Mutation	p.Ala1425Thr(p.A1425T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47774288:47774288(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12272C>T
AA Mutation	p.Ala4091Val(p.A4091V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47877823:47877823(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5264G>A
AA Mutation	p.Ser1755Asn(p.S1755N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47777724:47777724(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12004A>T
AA Mutation	p.Met4002Leu(p.M4002L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47898510:47898510(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3424C>A
AA Mutation	p.His1142Asn(p.H1142N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47782241:47782241(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11410G>A
AA Mutation	p.Glu3804Lys(p.E3804K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000314191
Start	47885945:47885945(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4775T>C
AA Mutation	p.Met1592Thr(p.M1592T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47820918:47820918(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373925433
CDS Mutation	c.9137G>A
AA Mutation	p.Arg3046His(p.R3046H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47826713:47826713(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8726G>A
AA Mutation	p.Arg2909Gln(p.R2909Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47776910:47776910(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12116A>G
AA Mutation	p.Tyr4039Cys(p.Y4039C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47823962:47823962(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756866332
CDS Mutation	c.8818C>T
AA Mutation	p.Arg2940Cys(p.R2940C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47799257:47799257(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10250C>T
AA Mutation	p.Ala3417Val(p.A3417V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47849235:47849235(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7199T>C
AA Mutation	p.Val2400Ala(p.V2400A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47794379:47794379(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10581G>T
AA Mutation	p.Gln3527His(p.Q3527H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47953712:47953712(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.629C>T
AA Mutation	p.Ser210Leu(p.S210L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47794428:47794428(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10532C>T
AA Mutation	p.Ala3511Val(p.A3511V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47862422:47862422(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5870A>G
AA Mutation	p.Asn1957Ser(p.N1957S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47803474:47803474(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9754T>G
AA Mutation	p.Phe3252Val(p.F3252V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47828289:47828289(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8456A>T
AA Mutation	p.Glu2819Val(p.E2819V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47831893:47831893(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8186G>A
AA Mutation	p.Arg2729His(p.R2729H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47836433:47836433(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138740003
CDS Mutation	c.7856G>A
AA Mutation	p.Arg2619His(p.R2619H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47854116:47854116(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6860C>T
AA Mutation	p.Pro2287Leu(p.P2287L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47820828:47820828(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370147042
CDS Mutation	c.9227C>T
AA Mutation	p.Ala3076Val(p.A3076V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47837408:47837408(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773817275
CDS Mutation	c.7565G>A
AA Mutation	p.Arg2522Gln(p.R2522Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47862517:47862517(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5775G>T
AA Mutation	p.Glu1925Asp(p.E1925D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47912432:47912432(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs528650708
CDS Mutation	c.2912G>A
AA Mutation	p.Arg971Gln(p.R971Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47915390:47915390(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2555G>T
AA Mutation	p.Arg852Ile(p.R852I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47929879:47929879(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2026A>C
AA Mutation	p.Asn676His(p.N676H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47862090:47862090(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199898990
CDS Mutation	c.5957G>A
AA Mutation	p.Arg1986His(p.R1986H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47836491:47836491(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7798A>G
AA Mutation	p.Thr2600Ala(p.T2600A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47862531:47862531(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373832970
CDS Mutation	c.5761G>A
AA Mutation	p.Asp1921Asn(p.D1921N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47930009:47930009(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774814292
CDS Mutation	c.1896G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47889049:47889049(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750460161
CDS Mutation	c.4245A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47877819:47877819(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5268T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47849471:47849471(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754824486
CDS Mutation	c.7038G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	42
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47881957:47881957(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs529999429
CDS Mutation	c.4917C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	43
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47935769:47935769(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1410A>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	44
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47953825:47953825(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.603G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	45
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47777761:47777761(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11967G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	46
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47862451:47862451(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs546063249
CDS Mutation	c.5841C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	47
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47927786:47927786(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs534226541
CDS Mutation	c.2244C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	48
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47862101:47862101(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5946C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	49
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47893179:47893179(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3807G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	50
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47777770:47777770(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs56405602
CDS Mutation	c.11958C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	51
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47826834:47826834(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8605C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	52
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47834323:47834323(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8025T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	53
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47794349:47794349(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765260421
CDS Mutation	c.10611C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	54
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47778796:47778796(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs202104334
CDS Mutation	c.11583C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	55
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47794364:47794364(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10596C>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	56
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47934007:47934007(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs551598588
CDS Mutation	c.1581C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	57
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47934055:47934055(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1533A>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	58
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000314191
Start	47785174:47785177(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.11043_11046delAGAA
AA Mutation	p.Lys3681AsnfsTer6(p.K3681Nfs*6)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	59
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000314191
Start	47886051:47886051(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.4669delG
AA Mutation	p.Glu1557SerfsTer16(p.E1557Sfs*16)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	60
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000314191
Start	47834238:47834238(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.8110delA
AA Mutation	p.Arg2704GlyfsTer13(p.R2704Gfs*13)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	61
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000314191
Start	47954350:47954351(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.495_496delAA
AA Mutation	p.Lys165AsnfsTer11(p.K165Nfs*11)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	62
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000314191
Start	47779047:47779047(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.11536delA
AA Mutation	p.Met3846CysfsTer12(p.M3846Cfs*12)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	63
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000314191
Start	47893306:47893306(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3680delG
AA Mutation	p.Gly1227ValfsTer50(p.G1227Vfs*50)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	64
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000314191
Start	47803426:47803426(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.9802delA
AA Mutation	p.Thr3268ProfsTer7(p.T3268Pfs*7)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	65
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000314191
Start	47785212:47785212(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.11008delA
AA Mutation	p.Met3670Ter(p.M3670*)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	66
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000314191
Start	47774265:47774265(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.12295delT
AA Mutation	p.Ser4099GlnfsTer6(p.S4099Qfs*6)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	67
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000314191
Start	47776916:47776916(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.12110delA
AA Mutation	p.Asn4037IlefsTer15(p.N4037Ifs*15)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	68
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000314191
Start	47776968:47776968(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.12058delA
AA Mutation	p.Met4020CysfsTer2(p.M4020Cfs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	69
Mutation Consequence	stop_gained
Transcription ID	ENST00000314191
Start	47859660:47859660(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6158C>A
AA Mutation	p.Ser2053Ter(p.S2053*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	70
Mutation Consequence	stop_gained;splice_region_variant
Transcription ID	ENST00000314191
Start	47898471:47898471(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3463C>T
AA Mutation	p.Arg1155Ter(p.R1155*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	71
Mutation Consequence	stop_gained
Transcription ID	ENST00000314191
Start	47782246:47782246(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11405T>G
AA Mutation	p.Leu3802Ter(p.L3802*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	72
Mutation Consequence	stop_gained
Transcription ID	ENST00000314191
Start	47957245:47957245(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.250G>T
AA Mutation	p.Glu84Ter(p.E84*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	73
Mutation Consequence	stop_gained
Transcription ID	ENST00000314191
Start	47803459:47803459(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9769A>T
AA Mutation	p.Lys3257Ter(p.K3257*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	74
Mutation Consequence	stop_gained
Transcription ID	ENST00000314191
Start	47782577:47782577(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11197C>T
AA Mutation	p.Arg3733Ter(p.R3733*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	75
Mutation Consequence	stop_gained
Transcription ID	ENST00000314191
Start	47881513:47881513(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4970C>A
AA Mutation	p.Ser1657Ter(p.S1657*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	76
Mutation Consequence	stop_gained
Transcription ID	ENST00000314191
Start	47776881:47776881(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12145A>T
AA Mutation	p.Arg4049Ter(p.R4049*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	77
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000314191
Start	47840161:47840162(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.7307_7308dupTG
AA Mutation	p.Asp2437TrpfsTer3(p.D2437Wfs*3)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	78
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000314191
Start	47799302:47799303(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.10204_10205insTTACCTCCTCTAACTCACGGTTT
AA Mutation	p.Ser3402IlefsTer16(p.S3402Ifs*16)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	79
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000314191
Start	47799304:47799305(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.10202_10203insTATTCATT
AA Mutation	p.Trp3401CysfsTer4(p.W3401Cfs*4)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	80
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000314191
Start	47788993:47788994(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.10814dupA
AA Mutation	p.Asn3605LysfsTer3(p.N3605Kfs*3)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	81
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000314191
Start	47849377:47849377(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7130+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	82
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000314191
Start	47929851:47929851(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2052+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> PRKDC

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47927836:47927836(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2194T>G
AA Mutation	p.Phe732Val(p.F732V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47890363:47890363(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747889965
CDS Mutation	c.3965C>A
AA Mutation	p.Thr1322Lys(p.T1322K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47782210:47782210(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11441A>C
AA Mutation	p.Asp3814Ala(p.D3814A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47837408:47837408(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773817275
CDS Mutation	c.7565G>A
AA Mutation	p.Arg2522Gln(p.R2522Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47831858:47831858(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8221T>G
AA Mutation	p.Leu2741Val(p.L2741V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47943281:47943281(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.894A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47888611:47888611(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4320C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47840087:47840087(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761453930
CDS Mutation	c.7383C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	stop_gained
Transcription ID	ENST00000314191
Start	47855343:47855343(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6640C>T
AA Mutation	p.Arg2214Ter(p.R2214*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	stop_gained
Transcription ID	ENST00000314191
Start	47927806:47927806(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2224G>T
AA Mutation	p.Glu742Ter(p.E742*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000314191
Start	47788993:47788994(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.10814dupA
AA Mutation	p.Asn3605LysfsTer3(p.N3605Kfs*3)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript