Annotation Summary for Cell Line: HCC70  

Cell line primary name: HCC70
Cell line aliases:
Gender: F
Site Primary: breast
Histology: carcinoma
Hist Subtype1: ductal_carcinoma
Notes:
Source: ATCC
Expression arrays: MAKER_p_NCLE_RNA7_HG-U133_Plus_2_C07_454622
SNP arrays: FIEFS_p_NCLE_DNA_Affy5_GenomeWideSNP_6_G03_410962
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in HCC70

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ADAM28 8 24211994 24211997 HCC70_BREAST 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADCK5 p.A71E 8 145608377 145608377 HCC70_BREAST 37 Missense_Mutation SNP C A uc003zch.2 ADCK5_uc003zcg.... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 HCC70_BREAST 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 HCC70_BREAST 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKAP9 7 91718934 91718934 HCC70_BREAST 37 Intron SNP T A uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap... view
ALPK1 4 113347609 113347610 HCC70_BREAST 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 HCC70_BREAST 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
BAX 19 49464508 49464509 HCC70_BREAST 37 3'UTR Del TT - uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap...
BIRC6 p.V1672A 2 32689650 32689650 HCC70_BREAST 37 Missense_Mutation SNP T C uc010ezu.2 Hybrid_Cap... view
BMP4 14 54416601 54416602 HCC70_BREAST 37 3'UTR Del CT - rs74495140;rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
CABC1 1 227171585 227171585 HCC70_BREAST 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNB2 10 18828704 18828705 HCC70_BREAST 37 3'UTR Ins - AACA uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CARD10 p.KE272del 22 37906309 37906314 HCC70_BREAST 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CARD9 9 139258593 139258593 HCC70_BREAST 37 3'UTR SNP A G uc004chg.3 DNLZ_uc004chf.1... Hybrid_Cap... view
CASP4 11 104819564 104819565 HCC70_BREAST 37 Intron Ins - ACA uc001pid.1 CASP4_uc001pib.... Hybrid_Cap...
CD40 20 44746912 44746912 HCC70_BREAST 37 5'UTR SNP G C uc002xrg.1 CD40_uc002xrf.1... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 HCC70_BREAST 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 HCC70_BREAST 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB1 p.R298Q 2 208461649 208461649 HCC70_BREAST 37 Missense_Mutation SNP G A uc002vcc.2 CREB1_uc002vcd.... Hybrid_Cap... view
DIP2C 10 323006 323007 HCC70_BREAST 37 3'UTR Ins - T rs66649410 uc001ifp.2 Hybrid_Cap...
EEF2K p.E434* 16 22274431 22274431 HCC70_BREAST 37 Nonsense_Mutation SNP G T uc002dki.2 EEF2K_uc002dkh.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 HCC70_BREAST 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB6 p.176_177insS 7 142562051 142562052 HCC70_BREAST 37 In_Frame_Ins Ins - CCT rs72043374 uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
EPHB6 7 142568771 142568771 HCC70_BREAST 37 3'UTR Del C - uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
ETV1 7 14028708 14028708 HCC70_BREAST 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 HCC70_BREAST 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FIGF p.E212del X 15373275 15373277 HCC70_BREAST 37 In_Frame_Del Del TCT - uc004cwt.1 Hybrid_Cap...
FLI1 11 128638217 128638217 HCC70_BREAST 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT1 p.I623M 13 28964033 28964033 HCC70_BREAST 37 Missense_Mutation SNP G C uc001usb.3 FLT1_uc010aar.1... Hybrid_Cap... view
FMN2 p.P1116del 1 240371434 240371436 HCC70_BREAST 37 In_Frame_Del Del CCT - uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 HCC70_BREAST 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GCNT2 p.T87fs 6 10529403 10529404 HCC70_BREAST 37 Frame_Shift_Del Del AC - uc010joo.2 GCNT2_uc010jol.... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 HCC70_BREAST 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 HCC70_BREAST 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIA3 X 122551846 122551846 HCC70_BREAST 37 Intron SNP T C uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 HCC70_BREAST 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 HCC70_BREAST 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
ILK 11 6630029 6630029 HCC70_BREAST 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 HCC70_BREAST 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KCTD14 p.H102D 11 77728103 77728103 HCC70_BREAST 37 Missense_Mutation SNP G C uc001oyw.3 Hybrid_Cap... view
KLK7 19 51480672 51480675 HCC70_BREAST 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LDHA p.K261N 11 18425344 18425344 HCC70_BREAST 37 Missense_Mutation SNP G C uc010rdd.1 LDHA_uc001mok.3... Hybrid_Cap... view
LRP6 12 12273984 12273985 HCC70_BREAST 37 3'UTR Ins - C uc001rah.3 BCL2L14_uc001ra... Hybrid_Cap...
LRRK2 12 40761619 40761619 HCC70_BREAST 37 3'UTR SNP A C uc001rmg.3 LRRK2_uc009zjw.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 HCC70_BREAST 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 HCC70_BREAST 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 HCC70_BREAST 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK6 15 52357264 52357264 HCC70_BREAST 37 3'UTR SNP G A uc002abp.2 Hybrid_Cap... view
MLKL p.D369fs 16 74709591 74709594 HCC70_BREAST 37 Frame_Shift_Del Del TCTG - uc002fdb.2 MLKL_uc002fdc.2... Hybrid_Cap...
MLLT6 17 36882092 36882092 HCC70_BREAST 37 3'UTR SNP A T uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap... view
MMP8 p.G262_splice 11 102587152 102587153 HCC70_BREAST 37 Splice_Site_Ins Ins - G rs58281905 uc001phe.2 MMP8_uc010rut.1... Hybrid_Cap...
MN1 p.540_540Q>QQ 22 28194912 28194913 HCC70_BREAST 37 In_Frame_Ins Ins - TGC rs45520238 uc003adj.2 Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 HCC70_BREAST 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYLK 3 123332876 123332876 HCC70_BREAST 37 3'UTR Del T - rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYST4 p.E1104del 10 76781906 76781908 HCC70_BREAST 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NCAM1 11 112832307 112832308 HCC70_BREAST 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 HCC70_BREAST 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279864 46279866 HCC70_BREAST 37 In_Frame_Del Del CAA - rs1132443;rs28529067 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 HCC70_BREAST 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 HCC70_BREAST 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NFKB1 p.D917_splice 4 103534740 103534741 HCC70_BREAST 37 Splice_Site_Ins Ins - A rs35795162 uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap...
NLRP3 1 247611982 247611982 HCC70_BREAST 37 3'UTR Del C - uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap...
NPR1 1 153665919 153665920 HCC70_BREAST 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 HCC70_BREAST 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223158653 223158653 HCC70_BREAST 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 HCC70_BREAST 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 HCC70_BREAST 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRA 4 55131002 55131003 HCC70_BREAST 37 Intron Del AA - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PNCK X 152938378 152938378 HCC70_BREAST 37 Intron SNP G A uc011myu.1 PNCK_uc011myt.1... Hybrid_Cap... view
POU5F1B p.C70fs 8 128428321 128428322 HCC70_BREAST 37 Frame_Shift_Ins Ins - G uc003ysf.2 LOC727677_uc003... Hybrid_Cap...
POU5F1B p.P339A 8 128429126 128429126 HCC70_BREAST 37 Missense_Mutation SNP C G uc003ysf.2 LOC727677_uc003... Hybrid_Cap... view
PPARGC1A p.I64V 4 23886419 23886419 HCC70_BREAST 37 Missense_Mutation SNP T C uc003gqs.2 PPARGC1A_uc003g... Hybrid_Cap... view
PTEN p.P89fs 10 89692783 89692783 HCC70_BREAST 37 Frame_Shift_Del Del T - uc001kfb.2 Hybrid_Cap...
PTK7 p.R933H 6 43126607 43126607 HCC70_BREAST 37 Missense_Mutation SNP G A uc011dve.1 PTK7_uc003oub.1... Hybrid_Cap... view
RB1 p.N480del 13 48954315 48954317 HCC70_BREAST 37 In_Frame_Del Del ACA - rs76296232 uc001vcb.2 Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 HCC70_BREAST 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
REM1 20 30064241 30064241 HCC70_BREAST 37 5'UTR Del T - rs113010491 uc002wwa.2 Hybrid_Cap...
RIMS2 p.L426Q 8 104928672 104928672 HCC70_BREAST 37 Missense_Mutation SNP T A uc003yls.2 RIMS2_uc003ylp.... Hybrid_Cap... view
RIOK1 p.N435Y 6 7411597 7411598 HCC70_BREAST 37 Missense_Mutation DNP GA AT uc003mxn.2 RIOK1_uc003mxo.... Hybrid_Cap...
RPS6KA5 14 91360733 91360734 HCC70_BREAST 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KB1 17 58024224 58024225 HCC70_BREAST 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
SEPT3 22 42390888 42390891 HCC70_BREAST 37 Intron Del TGTG - uc003bbr.3 WBP2NL_uc011ape... Hybrid_Cap...
SHC1 1 154936481 154936481 HCC70_BREAST 37 Intron SNP G C uc001ffw.2 PYGO2_uc001fft.... Hybrid_Cap... view
STAT1 2 191840353 191840353 HCC70_BREAST 37 Intron Del T - uc002usj.2 STAT1_uc010fse.... Hybrid_Cap...
STK31 7 23872024 23872025 HCC70_BREAST 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 HCC70_BREAST 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB2 1 218519928 218519929 HCC70_BREAST 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TMEM123 11 102269398 102269398 HCC70_BREAST 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNKS2 10 93622951 93622959 HCC70_BREAST 37 3'UTR Del GTTTT... - rs115539654 uc001khp.2 Hybrid_Cap...
TP53 p.R248Q 17 7577538 7577538 HCC70_BREAST 37 Missense_Mutation SNP C T rs11540652 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 HCC70_BREAST 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TSSK3 p.P209L 1 32829676 32829676 HCC70_BREAST 37 Missense_Mutation SNP C T uc001bvf.2 Hybrid_Cap... view
TTN p.D8437_splice 2 179571683 179571683 HCC70_BREAST 37 Splice_Site_SNP SNP T G rs6716782 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.I2138M 2 179640177 179640177 HCC70_BREAST 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 HCC70_BREAST 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WDHD1 14 55408116 55408117 HCC70_BREAST 37 3'UTR Del AT - uc001xbm.1 WDHD1_uc010aom.... Hybrid_Cap...