Annotation Summary for Cell Line: 647-V  

Cell line primary name: 647-V
Cell line aliases:
Gender: M
Site Primary: urinary_tract
Histology: carcinoma
Hist Subtype1: transitional_cell_carcinoma
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_H02_474606
SNP arrays: AWASH_p_NCLE_DNAAffy10_GenomeWideSNP_6_F05_542896
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in 647-V

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
AKAP12 p.1531_1532insE 6 151674116 151674117 647V_URINARY_TR... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 647V_URINARY_TR... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
AR p.V716M X 66931504 66931504 647V_URINARY_TR... 37 Missense_Mutation SNP G A uc004dwu.1 AR_uc004dwv.1_M... Hybrid_Cap... view
BIRC6 p.S2009* 2 32693750 32693750 647V_URINARY_TR... 37 Nonsense_Mutation SNP C G uc010ezu.2 Hybrid_Cap... view
BMX p.V32fs X 15526571 15526571 647V_URINARY_TR... 37 Frame_Shift_Del Del T - uc004cww.2 BMX_uc004cwx.3_... Hybrid_Cap...
BRD4 p.D818Y 19 15355171 15355171 647V_URINARY_TR... 37 Missense_Mutation SNP C A uc002nar.2 Hybrid_Cap... view
CACNB2 10 18828721 18828722 647V_URINARY_TR... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK2B p.A660T 7 44259684 44259684 647V_URINARY_TR... 37 Missense_Mutation SNP C T uc003tkq.2 CAMK2B_uc003tkp... Hybrid_Cap... view
CDK18 1 205492555 205492555 647V_URINARY_TR... 37 Intron SNP C T uc001hcr.2 CDK18_uc009xbk.... Hybrid_Cap... view
CDKL2 p.Q288E 4 76525487 76525487 647V_URINARY_TR... 37 Missense_Mutation SNP G C uc011cbp.1 CDKL2_uc003hiq.... Hybrid_Cap... view
CDKN1A p.E100* 6 36652074 36652074 647V_URINARY_TR... 37 Nonsense_Mutation SNP G T uc011dtq.1 CDKN1A_uc003oml... Hybrid_Cap... view
CDKN2B p.V53V 9 22006244 22006244 647V_URINARY_TR... 37 Silent SNP G C uc003zpo.2 MTAP_uc003zpi.1... Hybrid_Cap... view
CLK2 p.S9Y 1 155240743 155240743 647V_URINARY_TR... 37 Missense_Mutation SNP G T uc001fjy.2 RAG1AP1_uc010pe... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 647V_URINARY_TR... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL18A1 p.GPP1406del 21 46925141 46925149 647V_URINARY_TR... 37 In_Frame_Del Del GGCCC... - uc011afs.1 COL18A1_uc002zh... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 647V_URINARY_TR... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSMD3 p.H3624D 8 113241079 113241079 647V_URINARY_TR... 37 Missense_Mutation SNP G C uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CXCL12 10 44873992 44873993 647V_URINARY_TR... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DNAH8 p.G392V 6 38743591 38743591 647V_URINARY_TR... 37 Missense_Mutation SNP G T uc003ooe.1 Hybrid_Cap... view
DNAH8 6 38952247 38952250 647V_URINARY_TR... 37 Intron Del CACA - uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
DST 6 56471079 56471079 647V_URINARY_TR... 37 Intron SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST p.D240H 6 56569137 56569137 647V_URINARY_TR... 37 Missense_Mutation SNP C G uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EDN1 6 12290729 12290729 647V_URINARY_TR... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EIF4B p.YRDG241del 12 53421593 53421604 647V_URINARY_TR... 37 In_Frame_Del Del GGTAT... - uc010snu.1 EIF4B_uc009zmp.... Hybrid_Cap...
EP300 p.Q993* 22 41547996 41547996 647V_URINARY_TR... 37 Nonsense_Mutation SNP C T uc003azl.3 Hybrid_Cap... view
EPHA6 3 97367230 97367231 647V_URINARY_TR... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERCC2 19 45854768 45854768 647V_URINARY_TR... 37 3'UTR Del G - uc002pbj.2 KLC3_uc002pbf.1... Hybrid_Cap...
FER p.K657N 5 108436143 108436143 647V_URINARY_TR... 37 Missense_Mutation SNP A T uc003kop.1 FER_uc011cvg.1_... Hybrid_Cap... view
FES p.R682_splice 15 91436883 91436883 647V_URINARY_TR... 37 Splice_Site_SNP SNP G A uc002bpv.2 FES_uc010uqj.1_... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 647V_URINARY_TR... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 647V_URINARY_TR... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 647V_URINARY_TR... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNC p.E1201K 7 128485120 128485120 647V_URINARY_TR... 37 Missense_Mutation SNP G A uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FN1 2 216244182 216244185 647V_URINARY_TR... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FNBP1 p.D286Y 9 132687370 132687370 647V_URINARY_TR... 37 Missense_Mutation SNP C A uc004byw.1 FNBP1_uc011mbv.... Hybrid_Cap... view
FZD1 p.93_94insP 7 90894459 90894460 647V_URINARY_TR... 37 In_Frame_Ins Ins - CCG uc003ula.2 Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 647V_URINARY_TR... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 647V_URINARY_TR... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRK6 5 176858839 176858839 647V_URINARY_TR... 37 Intron SNP C T uc011dfz.1 GRK6_uc003mgp.2... Hybrid_Cap... view
GRK7 p.G203W 3 141497733 141497733 647V_URINARY_TR... 37 Missense_Mutation SNP G T uc011bnd.1 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 647V_URINARY_TR... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
ILK 11 6630029 6630029 647V_URINARY_TR... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ISG15 1 948846 948847 647V_URINARY_TR... 37 5'UTR Ins - A rs33916361 uc001acj.3 Hybrid_Cap...
ITPR1 p.K1692_splice 3 4753554 4753554 647V_URINARY_TR... 37 Splice_Site_SNP SNP T G uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 647V_URINARY_TR... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KDM6A p.A389V X 44918683 44918683 647V_URINARY_TR... 37 Missense_Mutation SNP C T uc011mkz.1 KDM6A_uc010nhk.... Hybrid_Cap... view
KLK7 19 51480672 51480675 647V_URINARY_TR... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LATS1 p.E802K 6 150001200 150001200 647V_URINARY_TR... 37 Missense_Mutation SNP C T uc003qmu.1 LATS1_uc010kif.... Hybrid_Cap... view
LCK p.E512Q 1 32751231 32751231 647V_URINARY_TR... 37 Missense_Mutation SNP G C uc001buz.2 LCK_uc001bux.2_... Hybrid_Cap... view
MAF 16 79628325 79628325 647V_URINARY_TR... 37 3'UTR Del A - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 647V_URINARY_TR... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 647V_URINARY_TR... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 647V_URINARY_TR... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K14 17 43341901 43341901 647V_URINARY_TR... 37 3'UTR SNP G A uc002iiw.1 LOC100133991_uc... Hybrid_Cap... view
MCM3AP p.N1712K 21 47663539 47663539 647V_URINARY_TR... 37 Missense_Mutation SNP G C uc002zir.1 MCM3APAS_uc002z... Hybrid_Cap... view
MDM4 p.S161* 1 204507407 204507407 647V_URINARY_TR... 37 Nonsense_Mutation SNP C G uc001hba.2 MDM4_uc001hbd.1... Hybrid_Cap... view
MECOM p.E841K 3 168830631 168830631 647V_URINARY_TR... 37 Missense_Mutation SNP C T uc011bpj.1 MECOM_uc010hwk.... Hybrid_Cap... view
MFSD4 p.G385V 1 205561272 205561272 647V_URINARY_TR... 37 Missense_Mutation SNP G T uc001hcv.3 MFSD4_uc010prk.... Hybrid_Cap... view
MINK1 17 4800650 4800650 647V_URINARY_TR... 37 3'UTR SNP C T uc010vsl.1 MINK1_uc010vsk.... Hybrid_Cap... view
MST1R p.R582K 3 49935619 49935619 647V_URINARY_TR... 37 Missense_Mutation SNP C T uc003cxy.3 MST1R_uc011bdd.... Hybrid_Cap... view
MST1R p.G393S 3 49939866 49939866 647V_URINARY_TR... 37 Missense_Mutation SNP C T uc003cxy.3 MST1R_uc011bdd.... Hybrid_Cap... view
NACA p.K1537fs 12 57110704 57110704 647V_URINARY_TR... 37 Frame_Shift_Del Del T - uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap...
NCAM1 11 112832307 112832308 647V_URINARY_TR... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 647V_URINARY_TR... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAPD3 p.G180R 11 134080193 134080193 647V_URINARY_TR... 37 Missense_Mutation SNP C T uc001qhd.1 NCAPD3_uc010scm... Hybrid_Cap... view
NCOA3 20 46282339 46282340 647V_URINARY_TR... 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NOTCH4 6 32170465 32170465 647V_URINARY_TR... 37 Intron Del G - uc003obb.2 NOTCH4_uc003oba... Hybrid_Cap...
NPR1 1 153665919 153665920 647V_URINARY_TR... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NUP153 p.S859L 6 17633057 17633057 647V_URINARY_TR... 37 Missense_Mutation SNP G A uc011dje.1 NUP153_uc003ncd... Hybrid_Cap... view
OBSCN p.R2041P 1 228463629 228463629 647V_URINARY_TR... 37 Missense_Mutation SNP G C uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PAX3 2 223158653 223158653 647V_URINARY_TR... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX5 9 36840419 36840419 647V_URINARY_TR... 37 3'UTR SNP G A uc003zzo.1 PAX5_uc011lpt.1... Hybrid_Cap... view
PDE4DIP p.G2148V 1 144857042 144857042 647V_URINARY_TR... 37 Missense_Mutation SNP C A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFRA 4 55130162 55130162 647V_URINARY_TR... 37 Intron Del T - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PDK4 7 95225673 95225673 647V_URINARY_TR... 37 5'UTR SNP C G uc003uoa.2 Hybrid_Cap... view
PIK3C2A p.S619C 11 17156699 17156699 647V_URINARY_TR... 37 Missense_Mutation SNP G C uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap... view
PIK3C2G p.S1117T 12 18691115 18691115 647V_URINARY_TR... 37 Missense_Mutation SNP T A uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap... view
PIP5KL1 p.L283M 9 130687456 130687456 647V_URINARY_TR... 37 Missense_Mutation SNP G T uc011mao.1 PIP5KL1_uc004bs... Hybrid_Cap... view
PLCG1 p.R1246Q 20 39802855 39802855 647V_URINARY_TR... 37 Missense_Mutation SNP G A uc002xjo.1 PLCG1_uc002xjp.... Hybrid_Cap... view
POU5F1 p.C70S 6 31138190 31138190 647V_URINARY_TR... 37 Missense_Mutation SNP A T uc003nsv.2 Hybrid_Cap... view
PRDM16 1 3350390 3350390 647V_URINARY_TR... 37 3'UTR SNP G A uc001akf.2 PRDM16_uc001akc... Hybrid_Cap... view
PRKCA 17 64298959 64298960 647V_URINARY_TR... 37 5'UTR Ins - GG rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKD1 p.D608H 14 30093441 30093441 647V_URINARY_TR... 37 Missense_Mutation SNP C G uc001wqh.2 Hybrid_Cap... view
PRKD2 p.S102L 19 47217194 47217194 647V_URINARY_TR... 37 Missense_Mutation SNP G A uc010xye.1 PRKD2_uc002pfg.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 647V_URINARY_TR... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAG1 p.E447Q 11 36596193 36596193 647V_URINARY_TR... 37 Missense_Mutation SNP G C uc001mwu.3 RAG1_uc001mwt.2... Hybrid_Cap... view
RASGRF1 15 79277150 79277151 647V_URINARY_TR... 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RB1 p.Q383* 13 48947560 48947560 647V_URINARY_TR... 37 Nonsense_Mutation SNP C T uc001vcb.2 RB1_uc010act.1_... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 647V_URINARY_TR... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
ROBO1 p.A777V 3 78708948 78708948 647V_URINARY_TR... 37 Missense_Mutation SNP G A uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap... view
RPN1 p.P467S 3 128341249 128341249 647V_URINARY_TR... 37 Missense_Mutation SNP G A uc003ekr.1 RPN1_uc011bkq.1... Hybrid_Cap... view
RPS6KB2 p.E52K 11 67196625 67196625 647V_URINARY_TR... 37 Missense_Mutation SNP G A uc001old.2 RPS6KB2_uc001ol... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 647V_URINARY_TR... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SIK3 p.H662Y 11 116732570 116732570 647V_URINARY_TR... 37 Missense_Mutation SNP G A uc001ppy.2 SIK3_uc001ppz.2... Hybrid_Cap... view
SRF p.E190K 6 43141639 43141639 647V_URINARY_TR... 37 Missense_Mutation SNP G A uc003oui.2 SRF_uc011dvf.1_... Hybrid_Cap... view
SRF p.E209K 6 43141696 43141696 647V_URINARY_TR... 37 Missense_Mutation SNP G A uc003oui.2 SRF_uc011dvf.1_... Hybrid_Cap... view
STAG3 7 99786357 99786357 647V_URINARY_TR... 37 Intron SNP G C uc003utx.1 STAG3_uc010lgs.... Hybrid_Cap... view
STAG3 p.I1102N 7 99808700 99808700 647V_URINARY_TR... 37 Missense_Mutation SNP T A uc003utx.1 STAG3_uc011kjk.... Hybrid_Cap... view
STAG3 p.R1116W 7 99808741 99808741 647V_URINARY_TR... 37 Missense_Mutation SNP A T uc003utx.1 STAG3_uc011kjk.... Hybrid_Cap... view
STIL p.E88D 1 47767907 47767907 647V_URINARY_TR... 37 Missense_Mutation SNP T A uc001crd.1 TAL1_uc001crb.1... Hybrid_Cap... view
STK31 7 23872024 23872025 647V_URINARY_TR... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK38L p.T75I 12 27461309 27461309 647V_URINARY_TR... 37 Missense_Mutation SNP C T uc001rhr.2 STK38L_uc001rhs... Hybrid_Cap... view
TNFRSF17 16 12059160 12059160 647V_URINARY_TR... 37 5'UTR SNP C T uc002dbv.2 TNFRSF17_uc010b... Hybrid_Cap... view
TNFRSF17 p.R27G 16 12059260 12059260 647V_URINARY_TR... 37 Missense_Mutation SNP C G uc002dbv.2 TNFRSF17_uc010b... Hybrid_Cap... view
TP53 p.E336* 17 7574021 7574021 647V_URINARY_TR... 37 Nonsense_Mutation SNP C A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP53 p.I162N 17 7578445 7578445 647V_URINARY_TR... 37 Missense_Mutation SNP A T uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRIO 5 14399328 14399328 647V_URINARY_TR... 37 Intron SNP C T uc003jff.2 TRIO_uc003jfg.2... Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 647V_URINARY_TR... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
UBR5 p.E2744* 8 103266700 103266700 647V_URINARY_TR... 37 Nonsense_Mutation SNP C A uc003ykr.1 UBR5_uc003yks.1... Hybrid_Cap... view
VCPIP1 p.R231Q 8 67578502 67578502 647V_URINARY_TR... 37 Missense_Mutation SNP C T uc003xwn.2 SGK3_uc003xwp.2... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 647V_URINARY_TR... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VPS13B p.L2999F 8 100832276 100832276 647V_URINARY_TR... 37 Missense_Mutation SNP C T uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap... view
ZNF423 p.G575V 16 49671339 49671339 647V_URINARY_TR... 37 Missense_Mutation SNP C A uc002efs.2 ZNF423_uc010vgn... Hybrid_Cap... view