Annotation Summary for Cell Line: KU-19-19  

Cell line primary name: KU-19-19
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_D06_474634
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_H10_490512
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KU-19-19

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 KU1919_URINARY_... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABI1 p.V145I 10 27066023 27066023 KU1919_URINARY_... 37 Missense_Mutation SNP C T uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap... view
ABL2 p.A470_splice 1 179086466 179086466 KU1919_URINARY_... 37 Splice_Site_SNP SNP C T uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap... view
ADAM28 8 24211994 24211997 KU1919_URINARY_... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADHFE1 p.A237T 8 67361180 67361180 KU1919_URINARY_... 37 Missense_Mutation SNP G A uc003xwb.3 ADHFE1_uc003xwd... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 KU1919_URINARY_... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 KU1919_URINARY_... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKT1 p.E49K 14 105246455 105246455 KU1919_URINARY_... 37 Missense_Mutation SNP C T uc001ypk.2 INF2_uc010tyi.1... Hybrid_Cap... view
AKT1 p.E17K 14 105246551 105246551 KU1919_URINARY_... 37 Missense_Mutation SNP C T rs121434592 uc001ypk.2 INF2_uc010tyi.1... Hybrid_Cap... view
ANAPC5 12 121768483 121768483 KU1919_URINARY_... 37 Intron SNP G C uc001uag.2 ANAPC5_uc010szu... Hybrid_Cap... view
ARID1A p.Y1052* 1 27094448 27094448 KU1919_URINARY_... 37 Nonsense_Mutation SNP T G uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap... view
AURKC 19 57742531 57742532 KU1919_URINARY_... 37 5'UTR Ins - C uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BAX 19 49464508 49464508 KU1919_URINARY_... 37 3'UTR Del T - uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap...
BCL6 p.A517I 3 187444677 187444678 KU1919_URINARY_... 37 Missense_Mutation DNP GC AT uc003frp.3 BCL6_uc011bsf.1... Hybrid_Cap...
BCR 22 23632777 23632778 KU1919_URINARY_... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
CABC1 p.F81L 1 227152764 227152764 KU1919_URINARY_... 37 Missense_Mutation SNP T C uc001hqm.1 CABC1_uc010pvp.... Hybrid_Cap... view
CACNB2 10 18828721 18828722 KU1919_URINARY_... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CCDC6 p.Y372fs 10 61554344 61554345 KU1919_URINARY_... 37 Frame_Shift_Ins Ins - A uc001jks.3 Hybrid_Cap...
CDK13 p.Q544H 7 40027618 40027618 KU1919_URINARY_... 37 Missense_Mutation SNP G T uc003thh.3 CDK13_uc003thi.... Hybrid_Cap... view
CHL1 p.S990* 3 436430 436430 KU1919_URINARY_... 37 Nonsense_Mutation SNP C G uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CIITA p.P293A 16 10997689 10997689 KU1919_URINARY_... 37 Missense_Mutation SNP C G uc002daj.3 CIITA_uc002dai.... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 KU1919_URINARY_... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 KU1919_URINARY_... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CREBBP 16 3777693 3777694 KU1919_URINARY_... 37 3'UTR Ins - G rs75832607 uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap...
DGKB 7 14188742 14188742 KU1919_URINARY_... 37 3'UTR SNP G A uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
DGKB 7 14216345 14216346 KU1919_URINARY_... 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
EIF4B p.D568E 12 53433420 53433420 KU1919_URINARY_... 37 Missense_Mutation SNP T A uc010snu.1 EIF4B_uc001sbh.... Hybrid_Cap... view
EP300 p.S1754* 22 41572976 41572976 KU1919_URINARY_... 37 Nonsense_Mutation SNP C A uc003azl.3 Hybrid_Cap... view
ERBB3 12 56492196 56492196 KU1919_URINARY_... 37 Intron Del A - rs77351535 uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap...
ESR2 14 64694496 64694496 KU1919_URINARY_... 37 3'UTR SNP C G uc001xgy.1 ESR2_uc001xgu.2... Hybrid_Cap... view
ETV1 7 14028708 14028708 KU1919_URINARY_... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FAM132A 1 1177919 1177919 KU1919_URINARY_... 37 3'UTR Del T - uc001adl.1 Hybrid_Cap...
FBN2 p.G2208A 5 127624833 127624833 KU1919_URINARY_... 37 Missense_Mutation SNP C G uc003kuu.2 Hybrid_Cap... view
FGFR3 4 1809128 1809139 KU1919_URINARY_... 37 3'UTR Del GTGTG... - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 KU1919_URINARY_... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 KU1919_URINARY_... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FMN2 p.P1232T 1 240371793 240371794 KU1919_URINARY_... 37 Missense_Mutation DNP AC GA uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 KU1919_URINARY_... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 KU1919_URINARY_... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
FOXP1 p.E644D 3 71008500 71008500 KU1919_URINARY_... 37 Missense_Mutation SNP T A uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap... view
GRIA3 X 122318386 122318387 KU1919_URINARY_... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2A p.E1143K 16 9857974 9857974 KU1919_URINARY_... 37 Missense_Mutation SNP C T rs61758996 uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
GUCY2C p.N699S 12 14792857 14792857 KU1919_URINARY_... 37 Missense_Mutation SNP T C rs112675050 uc001rcd.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 KU1919_URINARY_... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 KU1919_URINARY_... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IL21R 16 27460779 27460780 KU1919_URINARY_... 37 3'UTR Ins - TG rs66690088 uc002doq.1 IL21R_uc002dor.... Hybrid_Cap...
IL6ST p.V192G 5 55260057 55260057 KU1919_URINARY_... 37 Missense_Mutation SNP A C uc003jqq.2 IL6ST_uc010iwb.... Hybrid_Cap... view
ILK 11 6630029 6630029 KU1919_URINARY_... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 KU1919_URINARY_... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KDM6A p.Q915* X 44929487 44929487 KU1919_URINARY_... 37 Nonsense_Mutation SNP C T uc011mkz.1 KDM6A_uc010nhk.... Hybrid_Cap... view
KLK7 19 51480672 51480675 KU1919_URINARY_... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KTN1 p.D35N 14 56078869 56078869 KU1919_URINARY_... 37 Missense_Mutation SNP G A uc001xcb.2 KTN1_uc001xce.2... Hybrid_Cap... view
KTN1 p.E132fs 14 56079160 56079161 KU1919_URINARY_... 37 Frame_Shift_Ins Ins - A uc001xcb.2 KTN1_uc001xce.2... Hybrid_Cap...
LRP6 p.R1523Q 12 12274334 12274334 KU1919_URINARY_... 37 Missense_Mutation SNP C T uc001rah.3 BCL2L14_uc001ra... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 KU1919_URINARY_... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 KU1919_URINARY_... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 KU1919_URINARY_... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 KU1919_URINARY_... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MARK1 p.N331S 1 220804459 220804459 KU1919_URINARY_... 37 Missense_Mutation SNP A G uc009xdw.2 MARK1_uc001hmn.... Hybrid_Cap... view
MINK1 p.R1302Q 17 4800098 4800098 KU1919_URINARY_... 37 Missense_Mutation SNP G A uc010vsl.1 MINK1_uc010vsk.... Hybrid_Cap... view
MLLT4 6 168352940 168352940 KU1919_URINARY_... 37 Intron SNP T G uc003qwd.2 MLLT4_uc003qwb.... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 KU1919_URINARY_... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYLK3 p.D435H 16 46766279 46766279 KU1919_URINARY_... 37 Missense_Mutation SNP C G uc002eei.3 MYLK3_uc010vge.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 KU1919_URINARY_... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KU1919_URINARY_... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279864 46279866 KU1919_URINARY_... 37 In_Frame_Del Del CAA - rs1132443;rs28529067 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 KU1919_URINARY_... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 KU1919_URINARY_... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NIN p.C822G 14 51225284 51225284 KU1919_URINARY_... 37 Missense_Mutation SNP A C uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap... view
NIPBL p.Y178* 5 36962300 36962300 KU1919_URINARY_... 37 Nonsense_Mutation SNP C A uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NOTCH4 p.15_16LL>L 6 32191659 32191661 KU1919_URINARY_... 37 In_Frame_Del Del AGC - uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NPAT p.D166D 11 108059891 108059891 KU1919_URINARY_... 37 Silent SNP A G uc001pjz.3 NPAT_uc001pka.2... Hybrid_Cap... view
NPR1 1 153665919 153665920 KU1919_URINARY_... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 KU1919_URINARY_... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KU1919_URINARY_... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRAS p.Q61R 1 115256529 115256529 KU1919_URINARY_... 37 Missense_Mutation SNP T C rs11554290 uc009wgu.2 Hybrid_Cap... view
NUP214 9 134067556 134067557 KU1919_URINARY_... 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
PAX3 2 223066017 223066018 KU1919_URINARY_... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 KU1919_URINARY_... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDCD11 p.V1240L 10 105194605 105194605 KU1919_URINARY_... 37 Missense_Mutation SNP G T uc001kwy.1 Hybrid_Cap... view
PDE4DIP p.S2249F 1 144855807 144855807 KU1919_URINARY_... 37 Missense_Mutation SNP G A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDK4 7 95221928 95221928 KU1919_URINARY_... 37 Intron Del A - uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap...
PIK3C2A 11 17111198 17111199 KU1919_URINARY_... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
POU5F1 p.R33W 6 31138301 31138301 KU1919_URINARY_... 37 Missense_Mutation SNP G A uc003nsv.2 Hybrid_Cap... view
PRDM16 p.P659L 1 3328737 3328737 KU1919_URINARY_... 37 Missense_Mutation SNP C T uc001akf.2 PRDM16_uc001akc... Hybrid_Cap... view
PRKCA 17 64298959 64298960 KU1919_URINARY_... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 KU1919_URINARY_... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PXN p.P51Q 12 120662042 120662042 KU1919_URINARY_... 37 Missense_Mutation SNP G T uc001txt.2 PXN_uc001txv.2_... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 KU1919_URINARY_... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
ROBO2 p.E842K 3 77637913 77637913 KU1919_URINARY_... 37 Missense_Mutation SNP G A uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap... view
RPS6 9 19379804 19379804 KU1919_URINARY_... 37 Intron SNP C G uc003znv.1 RPS6_uc003znu.1... Hybrid_Cap... view
SEPT9 17 75494787 75494788 KU1919_URINARY_... 37 3'UTR Ins - C rs5822173 uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap...
SGK269 p.Y184C 15 77473718 77473718 KU1919_URINARY_... 37 Missense_Mutation SNP T C uc002bcm.2 SGK269_uc002bcn... Hybrid_Cap... view
SIX4 p.S308F 14 61187104 61187104 KU1919_URINARY_... 37 Missense_Mutation SNP G A uc001xfc.2 SIX4_uc010app.1... Hybrid_Cap... view
STAC2 p.E275K 17 37371064 37371064 KU1919_URINARY_... 37 Missense_Mutation SNP C T uc002hrs.2 STAC2_uc010cvt.... Hybrid_Cap... view
STK31 7 23872024 23872025 KU1919_URINARY_... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAB2 p.N356S 6 149700118 149700118 KU1919_URINARY_... 37 Missense_Mutation SNP A G uc003qmj.2 TAB2_uc011eec.1... Hybrid_Cap... view
TEC 4 48139307 48139310 KU1919_URINARY_... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TESK2 1 45810488 45810488 KU1919_URINARY_... 37 3'UTR SNP A G uc001cns.1 TESK2_uc009vxr.... Hybrid_Cap... view
TFEB p.P424T 6 41652540 41652540 KU1919_URINARY_... 37 Missense_Mutation SNP G T uc003oqu.1 TFEB_uc003oqs.1... Hybrid_Cap... view
TP63 3 189507518 189507519 KU1919_URINARY_... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPS1 8 116635872 116635873 KU1919_URINARY_... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 KU1919_URINARY_... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.T28268P 2 179413847 179413847 KU1919_URINARY_... 37 Missense_Mutation SNP T G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.W19236R 2 179448499 179448499 KU1919_URINARY_... 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TYRO3 15 41854003 41854003 KU1919_URINARY_... 37 Intron SNP A G uc001zof.1 TYRO3_uc001zoe.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 KU1919_URINARY_... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...