Annotation Summary for Cell Line: BFTC-905  

Cell line primary name: BFTC-905
Cell line aliases:
Gender: F
Site Primary: urinary_tract
Histology: carcinoma
Hist Subtype1: transitional_cell_carcinoma
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_C07_474578
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_F03_490490
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in BFTC-905

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
AAK1 p.541_542QQ>Q 2 69741754 69741756 BFTC905_URINARY... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCC3 17 48741519 48741519 BFTC905_URINARY... 37 Intron SNP A T uc002isl.2 ABCC3_uc002isk.... Hybrid_Cap... view
ACACA 17 35766545 35766545 BFTC905_URINARY... 37 5'UTR SNP G A uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap... view
ACACA 17 35766564 35766564 BFTC905_URINARY... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM28 8 24211994 24211997 BFTC905_URINARY... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ALPK1 4 113347609 113347610 BFTC905_URINARY... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ATRX p.P609A X 76938923 76938923 BFTC905_URINARY... 37 Missense_Mutation SNP G C uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap... view
AURKC 19 57742494 57742507 BFTC905_URINARY... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
AXIN1 16 338046 338046 BFTC905_URINARY... 37 3'UTR SNP C T uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap... view
BAI3 p.I1184T 6 70064216 70064216 BFTC905_URINARY... 37 Missense_Mutation SNP T C uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BCR 22 23632777 23632778 BFTC905_URINARY... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BLM p.Q632L 15 91306208 91306208 BFTC905_URINARY... 37 Missense_Mutation SNP A T uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
C9ORF96 p.E73del 9 136249678 136249680 BFTC905_URINARY... 37 In_Frame_Del Del GGA - uc004cdk.2 C9orf96_uc004cd... Hybrid_Cap...
CACNB2 10 18828721 18828722 BFTC905_URINARY... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CARS p.E362K 11 3047975 3047975 BFTC905_URINARY... 37 Missense_Mutation SNP C T uc001lxf.2 CARS_uc001lxe.2... Hybrid_Cap... view
CHN1 p.A436D 2 175664917 175664917 BFTC905_URINARY... 37 Missense_Mutation SNP G T uc002uji.2 CHN1_uc010zeq.1... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 BFTC905_URINARY... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 7 137565207 137565207 BFTC905_URINARY... 37 3'UTR SNP G T uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 BFTC905_URINARY... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CTBP2 p.Q159L 10 126715853 126715853 BFTC905_URINARY... 37 Missense_Mutation SNP T A uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
CXCR4 2 136873574 136873574 BFTC905_URINARY... 37 5'UTR SNP A G uc002tuy.2 CXCR4_uc010fnk.... Hybrid_Cap... view
DGKB 7 14216345 14216346 BFTC905_URINARY... 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DNAH8 6 38952247 38952248 BFTC905_URINARY... 37 Intron Del CA - uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
EPHA6 3 97367230 97367231 BFTC905_URINARY... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERN1 p.G856D 17 62122805 62122805 BFTC905_URINARY... 37 Missense_Mutation SNP C T uc002jdz.2 Hybrid_Cap... view
ETV1 7 14028708 14028708 BFTC905_URINARY... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FCRL4 p.D460Y 1 157548315 157548315 BFTC905_URINARY... 37 Missense_Mutation SNP C A uc001fqw.2 FCRL4_uc010phy.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 BFTC905_URINARY... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 BFTC905_URINARY... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 BFTC905_URINARY... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNB p.G2488S 3 58154337 58154337 BFTC905_URINARY... 37 Missense_Mutation SNP G A uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FMN2 p.P1240T 1 240371818 240371818 BFTC905_URINARY... 37 Missense_Mutation SNP C A uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap... view
FN1 2 216244182 216244185 BFTC905_URINARY... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 BFTC905_URINARY... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
FOXP1 p.K484K 3 71026170 71026170 BFTC905_URINARY... 37 Silent SNP C T uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap... view
GLI1 p.W780* 12 57864863 57864863 BFTC905_URINARY... 37 Nonsense_Mutation SNP G A uc001snx.2 GLI1_uc009zpq.2... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 BFTC905_URINARY... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 BFTC905_URINARY... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 BFTC905_URINARY... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC2 6 114262077 114262080 BFTC905_URINARY... 37 3'UTR Del AAAC - rs3217728 uc003pwd.1 HDAC2_uc003pwc.... Hybrid_Cap...
HIF1A 14 62213929 62213930 BFTC905_URINARY... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
IKZF3 17 38020389 38020389 BFTC905_URINARY... 37 5'UTR SNP G A uc002hsu.2 IKZF3_uc002htd.... Hybrid_Cap... view
ILK 11 6630029 6630029 BFTC905_URINARY... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRAK2 p.R504Q 3 10280469 10280469 BFTC905_URINARY... 37 Missense_Mutation SNP G A uc003bve.1 Hybrid_Cap... view
ISG15 1 948918 948918 BFTC905_URINARY... 37 5'UTR SNP G A uc001acj.3 Hybrid_Cap... view
ITGA5 p.Q663H 12 54796108 54796108 BFTC905_URINARY... 37 Missense_Mutation SNP C G uc001sga.2 Hybrid_Cap... view
ITGB4 17 73732892 73732892 BFTC905_URINARY... 37 Intron SNP C T uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap... view
ITPR1 p.P62S 3 4669467 4669467 BFTC905_URINARY... 37 Missense_Mutation SNP C T uc003bqa.2 ITPR1_uc010hbz.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 BFTC905_URINARY... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
LATS2 13 21620222 21620223 BFTC905_URINARY... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LRP1B p.L2349V 2 141356349 141356349 BFTC905_URINARY... 37 Missense_Mutation SNP G C uc002tvj.1 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 BFTC905_URINARY... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 BFTC905_URINARY... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 BFTC905_URINARY... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K5 6 136878752 136878752 BFTC905_URINARY... 37 3'UTR Del T - rs79903899 uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap...
MECOM p.T454M 3 168834299 168834299 BFTC905_URINARY... 37 Missense_Mutation SNP G A uc011bpj.1 MECOM_uc010hwk.... Hybrid_Cap... view
MTMR11 p.D224N 1 149906097 149906097 BFTC905_URINARY... 37 Missense_Mutation SNP C T uc001etl.3 MTMR11_uc001etm... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 BFTC905_URINARY... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYST4 p.S1229G 10 76788267 76788267 BFTC905_URINARY... 37 Missense_Mutation SNP A G uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap... view
NACA p.T1882R 12 57109669 57109669 BFTC905_URINARY... 37 Missense_Mutation SNP G C uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 BFTC905_URINARY... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 BFTC905_URINARY... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 BFTC905_URINARY... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFKBIA 14 35871136 35871138 BFTC905_URINARY... 37 3'UTR Del TTC - rs112369437 uc001wtf.3 NFKBIA_uc001wte... Hybrid_Cap...
NOTCH3 p.G346_splice 19 15300241 15300241 BFTC905_URINARY... 37 Splice_Site_SNP SNP T A uc002nan.2 NOTCH3_uc002nao... Hybrid_Cap... view
NPR1 1 153665919 153665920 BFTC905_URINARY... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 BFTC905_URINARY... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 BFTC905_URINARY... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRAS p.Q61L 1 115256529 115256529 BFTC905_URINARY... 37 Missense_Mutation SNP T A rs11554290 uc009wgu.2 Hybrid_Cap... view
OXSR1 3 38294473 38294473 BFTC905_URINARY... 37 3'UTR SNP C T uc003chy.2 OXSR1_uc010hhb.... Hybrid_Cap... view
PAFAH1B2 11 117038499 117038499 BFTC905_URINARY... 37 3'UTR Del G - uc001pqe.1 PAFAH1B2_uc009y... Hybrid_Cap...
PAX3 2 223066017 223066018 BFTC905_URINARY... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 BFTC905_URINARY... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.L601fs 1 144915624 144915624 BFTC905_URINARY... 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 BFTC905_URINARY... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PGR 11 100933598 100933599 BFTC905_URINARY... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2A 11 17111198 17111199 BFTC905_URINARY... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3C2G p.E465V 12 18491481 18491481 BFTC905_URINARY... 37 Missense_Mutation SNP A T uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap... view
PKHD1 p.T764I 6 51913406 51913406 BFTC905_URINARY... 37 Missense_Mutation SNP G A uc003pah.1 PKHD1_uc003pai.... Hybrid_Cap... view
PKHD1 p.R73Q 6 51947253 51947253 BFTC905_URINARY... 37 Missense_Mutation SNP C T uc003pah.1 PKHD1_uc003pai.... Hybrid_Cap... view
POU5F1B p.R157M 8 128428581 128428581 BFTC905_URINARY... 37 Missense_Mutation SNP G T uc003ysf.2 LOC727677_uc003... Hybrid_Cap... view
PPP1R3A p.F1085I 7 113517894 113517894 BFTC905_URINARY... 37 Missense_Mutation SNP A T uc010ljy.1 Hybrid_Cap... view
PRKCB p.P669R 16 24226121 24226121 BFTC905_URINARY... 37 Missense_Mutation SNP C G uc002dme.2 PRKCB_uc002dmd.... Hybrid_Cap... view
PRKD3 p.F274L 2 37513408 37513408 BFTC905_URINARY... 37 Missense_Mutation SNP A C uc002rqd.2 PRKD3_uc002rqf.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 BFTC905_URINARY... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RBPJ 4 26431822 26431822 BFTC905_URINARY... 37 Intron Del A - rs76214390 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap...
RPS6KA5 14 91360733 91360734 BFTC905_URINARY... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KB1 17 58024224 58024225 BFTC905_URINARY... 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
SGK223 p.G705E 8 8233805 8233805 BFTC905_URINARY... 37 Missense_Mutation SNP C T uc003wsh.3 Hybrid_Cap... view
SIK1 p.A497S 21 44838395 44838395 BFTC905_URINARY... 37 Missense_Mutation SNP C A rs35519605 uc002zdf.2 Hybrid_Cap... view
SOX2 p.G268E 3 181430951 181430951 BFTC905_URINARY... 37 Missense_Mutation SNP G A uc003fkx.2 SOX2OT_uc003fkv... Hybrid_Cap... view
SPEG p.R915H 2 220329193 220329193 BFTC905_URINARY... 37 Missense_Mutation SNP G A uc010fwg.2 SPEG_uc002vlm.2... Hybrid_Cap... view
SPTAN1 p.R742C 9 131346591 131346591 BFTC905_URINARY... 37 Missense_Mutation SNP C T uc004bvm.3 SPTAN1_uc011mbg... Hybrid_Cap... view
STAT5A 17 40462797 40462800 BFTC905_URINARY... 37 3'UTR Del TGTG - uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap...
TEC 4 48139307 48139310 BFTC905_URINARY... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TP53 p.V225_splice 17 7577610 7577610 BFTC905_URINARY... 37 Splice_Site_SNP SNP T A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRPS1 8 116635872 116635873 BFTC905_URINARY... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TRRAP p.P1799L 7 98548581 98548581 BFTC905_URINARY... 37 Missense_Mutation SNP C T uc003upp.2 TRRAP_uc011kis.... Hybrid_Cap... view
TRRAP p.F2223L 7 98559082 98559082 BFTC905_URINARY... 37 Missense_Mutation SNP T C uc003upp.2 TRRAP_uc011kis.... Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 BFTC905_URINARY... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN 2 179391639 179391640 BFTC905_URINARY... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.P24052T 2 179431001 179431001 BFTC905_URINARY... 37 Missense_Mutation SNP G T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R13142H 2 179483056 179483056 BFTC905_URINARY... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.I12921T 2 179484578 179484578 BFTC905_URINARY... 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN 2 179622410 179622410 BFTC905_URINARY... 37 Intron SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.V2099L 2 179640296 179640296 BFTC905_URINARY... 37 Missense_Mutation SNP C G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.T1609S 2 179641766 179641766 BFTC905_URINARY... 37 Missense_Mutation SNP T A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 BFTC905_URINARY... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZMYND10 p.S204N 3 50380438 50380438 BFTC905_URINARY... 37 Missense_Mutation SNP C T uc003dag.1 RASSF1_uc003dad... Hybrid_Cap... view