Annotation Summary for Cell Line: HCC1954  

Cell line primary name: HCC1954
Cell line aliases:
Gender: F
Site Primary: breast
Histology: carcinoma
Hist Subtype1: ductal_carcinoma
Notes:
Source: ATCC
Expression arrays: BUNDS_p_NCLE_RNA5_HG-U133_Plus_2_F08_419788
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_A04_437564
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in HCC1954

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 HCC1954_BREAST 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABI1 p.P416L 10 27040631 27040631 HCC1954_BREAST 37 Missense_Mutation SNP G A uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap... view
ACACB p.P1739R 12 109683468 109683468 HCC1954_BREAST 37 Missense_Mutation SNP C G uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ADAM17 2 9630245 9630245 HCC1954_BREAST 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 HCC1954_BREAST 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.D72N 6 151626933 151626933 HCC1954_BREAST 37 Missense_Mutation SNP G A rs61755979 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 HCC1954_BREAST 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 HCC1954_BREAST 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 HCC1954_BREAST 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
APC p.R2333K 5 112178289 112178289 HCC1954_BREAST 37 Missense_Mutation SNP G A uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 HCC1954_BREAST 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
AURKC 19 57742494 57742507 HCC1954_BREAST 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
CDK11B 1 1654066 1654068 HCC1954_BREAST 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 HCC1954_BREAST 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL1A1 p.F1463L 17 48262871 48262871 HCC1954_BREAST 37 Missense_Mutation SNP A G uc002iqm.2 Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 HCC1954_BREAST 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CXCL12 10 44873992 44873993 HCC1954_BREAST 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
CYFIP1 15 22956189 22956189 HCC1954_BREAST 37 Intron SNP A G uc001yus.2 CYFIP1_uc001yut... Hybrid_Cap... view
CYFIP1 p.R1110H 15 22999457 22999457 HCC1954_BREAST 37 Missense_Mutation SNP G A uc001yus.2 CYFIP1_uc001yut... Hybrid_Cap... view
DACH1 p.T530I 13 72063262 72063262 HCC1954_BREAST 37 Missense_Mutation SNP G A uc010thn.1 DACH1_uc010tho.... Hybrid_Cap... view
DIP2C p.R73C 10 518430 518430 HCC1954_BREAST 37 Missense_Mutation SNP G A uc001ifp.2 DIP2C_uc009xhk.... Hybrid_Cap... view
DPYD p.C671G 1 97839164 97839164 HCC1954_BREAST 37 Missense_Mutation SNP A C uc001drv.2 Hybrid_Cap... view
EDN1 6 12296150 12296151 HCC1954_BREAST 37 Intron Ins - T rs66570617 uc003nae.3 EDN1_uc003nad.2... Hybrid_Cap...
EGF p.E1134fs 4 110932389 110932390 HCC1954_BREAST 37 Frame_Shift_Ins Ins - C rs11569144 uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap...
EIF4E 4 99808137 99808141 HCC1954_BREAST 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EPHB3 p.R440C 3 184294935 184294935 HCC1954_BREAST 37 Missense_Mutation SNP C T rs56029711 uc003foz.2 Hybrid_Cap... view
FADD p.T138I 11 70052365 70052365 HCC1954_BREAST 37 Missense_Mutation SNP C T rs61753267 uc001opm.2 Hybrid_Cap... view
FLI1 11 128638217 128638217 HCC1954_BREAST 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
GAB1 p.T387N 4 144359718 144359718 HCC1954_BREAST 37 Missense_Mutation SNP C A uc003ijd.2 GAB1_uc003ije.2... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 HCC1954_BREAST 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRAMD1B 11 123396824 123396824 HCC1954_BREAST 37 De_novo_Start_OutOfFrame SNP G T uc001pyw.2 GRAMD1B_uc001py... Hybrid_Cap... view
GRIA3 X 122318386 122318387 HCC1954_BREAST 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 HCC1954_BREAST 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC8 p.I172I X 71715040 71715040 HCC1954_BREAST 37 Silent SNP A T rs61752447 uc004eau.2 HDAC8_uc011mqe.... Hybrid_Cap... view
HIPK2 p.E281D 7 139415991 139415991 HCC1954_BREAST 37 Missense_Mutation SNP C A uc003vvf.3 HIPK2_uc003vvd.... Hybrid_Cap... view
HIPK3 p.Q142R 11 33308385 33308385 HCC1954_BREAST 37 Missense_Mutation SNP A G rs34193811 uc001mul.1 HIPK3_uc001mum.... Hybrid_Cap... view
HSP90B1 p.E791del 12 104341188 104341190 HCC1954_BREAST 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IGF1R 15 99192755 99192763 HCC1954_BREAST 37 5'UTR Del TTTTT... - uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap...
ILK 11 6630029 6630029 HCC1954_BREAST 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGA10 p.R1076T 1 145539795 145539795 HCC1954_BREAST 37 Missense_Mutation SNP G C rs61757095 uc001eoa.2 NBPF10_uc001emp... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 HCC1954_BREAST 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 HCC1954_BREAST 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LETM2 p.W322_splice 8 38261910 38261910 HCC1954_BREAST 37 Splice_Site_SNP SNP G A uc003xlm.1 LETM2_uc011lbn.... Hybrid_Cap... view
LTK p.R569H 15 41797720 41797720 HCC1954_BREAST 37 Missense_Mutation SNP C T uc001zoa.3 LTK_uc001zob.3_... Hybrid_Cap... view
MAF 16 79628537 79628537 HCC1954_BREAST 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 HCC1954_BREAST 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK5 p.M67I 12 112305390 112305390 HCC1954_BREAST 37 Missense_Mutation SNP G A rs34132040 uc001tta.2 MAPKAPK5_uc001t... Hybrid_Cap... view
MAPKBP1 15 42111753 42111754 HCC1954_BREAST 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MARK2 p.N12K 11 63607014 63607014 HCC1954_BREAST 37 Missense_Mutation SNP C G uc001nxw.2 MARK2_uc001nxx.... Hybrid_Cap... view
MKL1 p.N194S 22 40819586 40819586 HCC1954_BREAST 37 Missense_Mutation SNP T C uc003ayv.1 MKL1_uc003ayw.1... Hybrid_Cap... view
MKNK2 19 2040951 2040951 HCC1954_BREAST 37 Intron SNP C A uc002lus.2 MKNK2_uc002luq.... Hybrid_Cap... view
MYLK 3 123339243 123339243 HCC1954_BREAST 37 Intron SNP C T uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 HCC1954_BREAST 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYLK4 p.A78S 6 2693021 2693021 HCC1954_BREAST 37 Missense_Mutation SNP C A uc003mty.3 Hybrid_Cap... view
MYST4 p.D1346Y 10 76788618 76788618 HCC1954_BREAST 37 Missense_Mutation SNP G T uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap... view
NBN p.T253I 8 90982730 90982730 HCC1954_BREAST 37 Missense_Mutation SNP G A rs61754967 uc003yej.1 NBN_uc003yei.1_... Hybrid_Cap... view
NCAM1 11 112832307 112832308 HCC1954_BREAST 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 HCC1954_BREAST 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA1 p.S1373P 2 24985607 24985607 HCC1954_BREAST 37 Missense_Mutation SNP T C rs61754969 uc002rfk.2 NCOA1_uc010eye.... Hybrid_Cap... view
NCOA3 p.QQQ1272del 20 46279815 46279823 HCC1954_BREAST 37 In_Frame_Del Del GCAGC... - uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 HCC1954_BREAST 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFATC1 p.H673H 18 77227509 77227509 HCC1954_BREAST 37 Silent SNP C T rs55829785 uc010xfg.1 NFATC1_uc002lnc... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 HCC1954_BREAST 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OBSCN p.G3588R 1 228480382 228480382 HCC1954_BREAST 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PAX3 2 223158653 223158653 HCC1954_BREAST 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDK4 7 95221928 95221928 HCC1954_BREAST 37 Intron Del A - uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap...
PIK3CA p.H1047R 3 178952085 178952085 HCC1954_BREAST 37 Missense_Mutation SNP A G uc003fjk.2 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 HCC1954_BREAST 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 HCC1954_BREAST 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RFC4 p.T354S 3 186507790 186507790 HCC1954_BREAST 37 Missense_Mutation SNP T A uc003fqz.2 RFC4_uc011bsc.1... Hybrid_Cap... view
RGS22 p.V194A 8 101083610 101083610 HCC1954_BREAST 37 Missense_Mutation SNP A G uc003yjb.1 RGS22_uc003yja.... Hybrid_Cap... view
ROS1 p.A1601D 6 117662663 117662663 HCC1954_BREAST 37 Missense_Mutation SNP G T rs45439298 uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RPS6KB1 17 58024224 58024225 HCC1954_BREAST 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
SEPT9 17 75494787 75494788 HCC1954_BREAST 37 3'UTR Ins - C rs5822173 uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap...
SERPINB4 p.G316S 18 61305180 61305180 HCC1954_BREAST 37 Missense_Mutation SNP C T uc002ljf.2 SERPINB4_uc002l... Hybrid_Cap... view
SGK1 6 134495980 134495980 HCC1954_BREAST 37 Intron SNP C A uc003qeo.3 SGK1_uc011ect.1... Hybrid_Cap... view
SHC1 p.A202S 1 154941273 154941273 HCC1954_BREAST 37 Missense_Mutation SNP C A uc001ffw.2 SHC1_uc001ffz.1... Hybrid_Cap... view
SIX4 p.G446D 14 61186690 61186690 HCC1954_BREAST 37 Missense_Mutation SNP C T uc001xfc.2 SIX4_uc010app.1... Hybrid_Cap... view
SP140 p.G528S 2 231150484 231150484 HCC1954_BREAST 37 Missense_Mutation SNP G A uc002vql.2 SP140_uc010zma.... Hybrid_Cap... view
SPTAN1 p.R1799W 9 131379956 131379956 HCC1954_BREAST 37 Missense_Mutation SNP C T uc004bvm.3 SPTAN1_uc004bvl... Hybrid_Cap... view
STAR 8 38008456 38008465 HCC1954_BREAST 37 5'UTR Del GAGTC... - uc003xkv.1 STAR_uc010lwc.1... Hybrid_Cap...
STK31 7 23872024 23872025 HCC1954_BREAST 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TCF21 6 134210497 134210498 HCC1954_BREAST 37 5'UTR Ins - TCTC rs35199378 uc003qei.3 TCF21_uc003qej.... Hybrid_Cap...
TEC 4 48139307 48139310 HCC1954_BREAST 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TESK2 1 45810436 45810436 HCC1954_BREAST 37 3'UTR SNP C G uc001cns.1 TESK2_uc009vxr.... Hybrid_Cap... view
TLK1 2 171850178 171850179 HCC1954_BREAST 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TLN1 p.T1372M 9 35710882 35710882 HCC1954_BREAST 37 Missense_Mutation SNP G A uc003zxt.2 Hybrid_Cap... view
TOX3 p.451_452QQ>Q 16 52473513 52473515 HCC1954_BREAST 37 In_Frame_Del Del TGC - uc010vgu.1 TOX3_uc002egw.2... Hybrid_Cap...
TP53 p.Y163C 17 7578442 7578442 HCC1954_BREAST 37 Missense_Mutation SNP T C uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TPO p.P135H 2 1440078 1440078 HCC1954_BREAST 37 Missense_Mutation SNP C A rs61758083 uc002qww.2 TPO_uc010ewj.2_... Hybrid_Cap... view
TRAF2 p.Q457L 9 139820217 139820217 HCC1954_BREAST 37 Missense_Mutation SNP A T uc010nbu.2 TRAF2_uc004cjv.... Hybrid_Cap... view
TRIM36 5 114462096 114462096 HCC1954_BREAST 37 3'UTR SNP G C uc003kqs.2 TRIM36_uc011cwc... Hybrid_Cap... view
TSC2 16 2138671 2138672 HCC1954_BREAST 37 3'UTR Del AA - uc002con.2 TSC2_uc010bsd.2... Hybrid_Cap...
TSSK1B p.P348L 5 112769494 112769494 HCC1954_BREAST 37 Missense_Mutation SNP G A uc003kqm.2 MCC_uc003kql.3_... Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 HCC1954_BREAST 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN 2 179391639 179391640 HCC1954_BREAST 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.R22681C 2 179435114 179435114 HCC1954_BREAST 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.A19271T 2 179448394 179448394 HCC1954_BREAST 37 Missense_Mutation SNP C T rs56378177 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 HCC1954_BREAST 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WDHD1 p.N234S 14 55467703 55467703 HCC1954_BREAST 37 Missense_Mutation SNP T C uc001xbm.1 WDHD1_uc001xbn.... Hybrid_Cap... view
YSK4 p.R163I 2 135756394 135756394 HCC1954_BREAST 37 Missense_Mutation SNP C A uc002tue.1 YSK4_uc010fne.1... Hybrid_Cap... view