Annotation Summary for Cell Line: BT-483  

Cell line primary name: BT-483
Cell line aliases:
Gender: F
Site Primary: breast
Histology: carcinoma
Hist Subtype1: ductal_carcinoma
Notes:
Source: ATCC
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_A08_474686
SNP arrays: BOWER_p_NCLE_DNAAffy8_GenomeWideSNP_6_B06_464594
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in BT-483

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 BT483_BREAST 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABL2 1 179086419 179086420 BT483_BREAST 37 Intron Ins - A rs72207641 uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap...
ADAMTS19 p.E470K 5 128932305 128932305 BT483_BREAST 37 Missense_Mutation SNP G A uc003kvb.1 ADAMTS19_uc010j... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 BT483_BREAST 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP6 p.S313F 14 33014797 33014797 BT483_BREAST 37 Missense_Mutation SNP C T uc001wrq.2 AKAP6_uc010aml.... Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 BT483_BREAST 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKT3 p.S474F 1 243668570 243668570 BT483_BREAST 37 Missense_Mutation SNP G A uc001iab.1 AKT3_uc001hzz.1... Hybrid_Cap... view
ALPK2 p.EDTST1006del 18 56204388 56204402 BT483_BREAST 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
APC p.T1160K 5 112174770 112174770 BT483_BREAST 37 Missense_Mutation SNP C A uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
ASPSCR1 p.E572K 17 79974702 79974702 BT483_BREAST 37 Missense_Mutation SNP G A uc002kcy.2 ASPSCR1_uc002kc... Hybrid_Cap... view
BCR 22 23632777 23632778 BT483_BREAST 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BIRC6 p.S2695L 2 32713770 32713770 BT483_BREAST 37 Missense_Mutation SNP C T uc010ezu.2 Hybrid_Cap... view
CABC1 1 227171736 227171737 BT483_BREAST 37 Intron Ins - T rs1574184 uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CARD11 p.R1101H 7 2946435 2946435 BT483_BREAST 37 Missense_Mutation SNP C T uc003smv.2 Hybrid_Cap... view
CD40 20 44751920 44751920 BT483_BREAST 37 Intron SNP C G uc002xrg.1 CD40_uc002xrf.1... Hybrid_Cap... view
CDC42BPA p.K1556T 1 227203866 227203866 BT483_BREAST 37 Missense_Mutation SNP T G uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDC42BPA p.E1552Q 1 227203879 227203879 BT483_BREAST 37 Missense_Mutation SNP C G uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDC42BPA p.K1044E 1 227223273 227223273 BT483_BREAST 37 Missense_Mutation SNP T C uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDK20 p.E337G 9 90582408 90582408 BT483_BREAST 37 Missense_Mutation SNP T C uc004apr.2 CDK20_uc004aps.... Hybrid_Cap... view
CEBPA 19 33792226 33792226 BT483_BREAST 37 3'UTR SNP G A uc002nun.2 LOC80054_uc002n... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 BT483_BREAST 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD9 p.D1654H 16 53308207 53308207 BT483_BREAST 37 Missense_Mutation SNP G C uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 BT483_BREAST 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CYCS p.E62D 7 25163452 25163452 BT483_BREAST 37 Missense_Mutation SNP C G uc003sxl.2 Hybrid_Cap... view
CYP27B1 p.A237A 12 58158873 58158873 BT483_BREAST 37 Silent SNP C A uc001spz.1 CYP27B1_uc001sq... Hybrid_Cap... view
DIABLO 12 122692850 122692850 BT483_BREAST 37 3'UTR SNP C T uc010tab.1 DIABLO_uc010taa... Hybrid_Cap... view
DST 6 56485473 56485473 BT483_BREAST 37 Intron SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
ELAVL1 19 8028347 8028348 BT483_BREAST 37 3'UTR Ins - A uc002mjb.2 Hybrid_Cap...
ERCC3 p.E225K 2 128047062 128047062 BT483_BREAST 37 Missense_Mutation SNP C T uc002toh.1 ERCC3_uc002toe.... Hybrid_Cap... view
FANCF p.S94C 11 22647076 22647076 BT483_BREAST 37 Missense_Mutation SNP G C uc001mql.1 Hybrid_Cap... view
FANCL p.Q327* 2 58388713 58388713 BT483_BREAST 37 Nonsense_Mutation SNP G A uc002rzx.3 FANCL_uc002rzw.... Hybrid_Cap... view
FBN1 p.N2208S 15 48725179 48725179 BT483_BREAST 37 Missense_Mutation SNP T C uc001zwx.1 FBN1_uc010beo.1... Hybrid_Cap... view
FGF2 p.S250L 4 123813433 123813433 BT483_BREAST 37 Missense_Mutation SNP C T uc003iev.1 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 BT483_BREAST 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 BT483_BREAST 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT1 p.D987E 13 28896489 28896489 BT483_BREAST 37 Missense_Mutation SNP G C uc001usb.3 FLT1_uc010aap.2... Hybrid_Cap... view
FN1 2 216244182 216244185 BT483_BREAST 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GLYATL2 11 58601858 58601858 BT483_BREAST 37 3'UTR Del T - uc001nnd.3 GLYATL2_uc009ym... Hybrid_Cap...
GPC3 X 132888208 132888208 BT483_BREAST 37 Intron Del A - uc010nrn.1 GPC3_uc004exd.1... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 BT483_BREAST 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRK1 p.W89C 13 114321968 114321968 BT483_BREAST 37 Missense_Mutation SNP G T uc010tkf.1 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 BT483_BREAST 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIP1 p.A890V 7 75174090 75174090 BT483_BREAST 37 Missense_Mutation SNP G A uc003uds.1 HIP1_uc011kfz.1... Hybrid_Cap... view
HNF1A 12 121434630 121434631 BT483_BREAST 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 BT483_BREAST 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 BT483_BREAST 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 BT483_BREAST 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRP1B p.D1447N 2 141625399 141625399 BT483_BREAST 37 Missense_Mutation SNP C T uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 BT483_BREAST 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 BT483_BREAST 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAPKBP1 15 42104986 42104986 BT483_BREAST 37 Intron SNP G C uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap... view
MINK1 p.R1302Q 17 4800098 4800098 BT483_BREAST 37 Missense_Mutation SNP G A uc010vsl.1 MINK1_uc010vsk.... Hybrid_Cap... view
MKNK1 1 47059893 47059893 BT483_BREAST 37 5'UTR SNP C G uc001cqb.2 MKNK1_uc010omd.... Hybrid_Cap... view
MYLK 3 123332875 123332876 BT483_BREAST 37 3'UTR Ins - T rs35930843;rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYO3B p.S1127* 2 171371440 171371440 BT483_BREAST 37 Nonsense_Mutation SNP C G uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
NACA p.E2031Q 12 57106854 57106854 BT483_BREAST 37 Missense_Mutation SNP C G uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 BT483_BREAST 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 BT483_BREAST 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 BT483_BREAST 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NF1 p.R1204W 17 29560133 29560133 BT483_BREAST 37 Missense_Mutation SNP C T uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NFIA 1 61921185 61921186 BT483_BREAST 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPR1 1 153665919 153665920 BT483_BREAST 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 BT483_BREAST 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 BT483_BREAST 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAK1 11 77034286 77034286 BT483_BREAST 37 3'UTR SNP G T uc001oyg.3 PAK1_uc010rso.1... Hybrid_Cap... view
PAX3 2 223158653 223158653 BT483_BREAST 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDK2 p.L37fs 17 48172910 48172910 BT483_BREAST 37 Frame_Shift_Del Del G - uc002iqc.2 PDK2_uc002iqb.2... Hybrid_Cap...
PIK3CA p.E542K 3 178936082 178936082 BT483_BREAST 37 Missense_Mutation SNP G A uc003fjk.2 Hybrid_Cap... view
PKHD1 p.S522C 6 51921725 51921725 BT483_BREAST 37 Missense_Mutation SNP G C uc003pah.1 PKHD1_uc003pai.... Hybrid_Cap... view
PKHD1 p.L8V 6 51949710 51949710 BT483_BREAST 37 Missense_Mutation SNP G C uc003pah.1 PKHD1_uc003pai.... Hybrid_Cap... view
PLK3 p.Q103E 1 45266608 45266608 BT483_BREAST 37 Missense_Mutation SNP C G uc001cmn.2 PLK3_uc001cmo.2... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 BT483_BREAST 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 10 52751071 52751079 BT483_BREAST 37 5'UTR Del GCCGC... - uc001jjm.2 PRKG1_uc010qhp.... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 BT483_BREAST 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RECQL4 p.R570W 8 145739743 145739743 BT483_BREAST 37 Missense_Mutation SNP G A uc003zdj.2 Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 BT483_BREAST 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SBDS 7 66460481 66460481 BT483_BREAST 37 5'UTR SNP C T uc003tvm.1 TYW1_uc003tvn.2... Hybrid_Cap... view
SETDB1 p.S101C 1 150902484 150902484 BT483_BREAST 37 Missense_Mutation SNP C G uc001evu.2 SETDB1_uc009wmf... Hybrid_Cap... view
SS18 18 23670598 23670598 BT483_BREAST 37 5'UTR SNP G C uc002kvm.2 SS18_uc002kvn.2... Hybrid_Cap... view
SSU72 p.E112K 1 1480273 1480273 BT483_BREAST 37 Missense_Mutation SNP C T uc001agd.2 SSU72_uc009vkg.... Hybrid_Cap... view
SSX1 p.G3V X 48116684 48116684 BT483_BREAST 37 Missense_Mutation SNP G T uc004djb.1 Hybrid_Cap... view
STAG3 p.E619K 7 99798160 99798160 BT483_BREAST 37 Missense_Mutation SNP G A uc003utx.1 STAG3_uc010lgs.... Hybrid_Cap... view
STK16 2 220113391 220113391 BT483_BREAST 37 3'UTR SNP C T rs45479195 uc002vkq.2 STK16_uc002vko.... Hybrid_Cap... view
STK31 7 23872024 23872025 BT483_BREAST 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAB2 6 149691085 149691085 BT483_BREAST 37 5'UTR SNP G A uc003qmj.2 TAB2_uc011eec.1... Hybrid_Cap... view
TMPRSS2 p.F246I 21 42851157 42851157 BT483_BREAST 37 Missense_Mutation SNP A T uc010gor.2 TMPRSS2_uc002yz... Hybrid_Cap... view
TP53 p.M246I 17 7577543 7577543 BT483_BREAST 37 Missense_Mutation SNP C T uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP53BP1 p.E1000Q 15 43738627 43738627 BT483_BREAST 37 Missense_Mutation SNP C G uc001zrr.3 TP53BP1_uc010ud... Hybrid_Cap... view
TRPS1 8 116635872 116635873 BT483_BREAST 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TRRAP p.L3678V 7 98608810 98608810 BT483_BREAST 37 Missense_Mutation SNP C G uc003upp.2 TRRAP_uc011kis.... Hybrid_Cap... view
TTN p.D24829H 2 179428670 179428670 BT483_BREAST 37 Missense_Mutation SNP C G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 BT483_BREAST 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WBP4 p.E31K 13 41639167 41639167 BT483_BREAST 37 Missense_Mutation SNP G A uc001uxt.2 WBP4_uc010tfd.1... Hybrid_Cap... view