Annotation Summary for Cell Line: CA46  

Cell line primary name: CA46
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: Burkitt_lymphoma
Notes:
Source: ATCC
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_A10_383756
SNP arrays: FASTS_p_NCLE_DNAAffy4_S_GenomeWideSNP_6_D06_335270
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in CA46

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABL1 p.V587M 9 133759379 133759379 CA46_HAEMATOPOI... 37 Missense_Mutation SNP G A uc004bzv.2 ABL1_uc004bzw.2... Hybrid_Cap... view
ACVR2A p.K113N 2 148657102 148657102 CA46_HAEMATOPOI... 37 Missense_Mutation SNP G C uc002twg.2 ACVR2A_uc010zbn... Hybrid_Cap... view
ADAM17 2 9630245 9630245 CA46_HAEMATOPOI... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 CA46_HAEMATOPOI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADARB2 p.V436M 10 1284249 1284249 CA46_HAEMATOPOI... 37 Missense_Mutation SNP C T uc009xhq.2 Hybrid_Cap... view
ALPK1 4 113347609 113347610 CA46_HAEMATOPOI... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
AURKC 19 57742494 57742507 CA46_HAEMATOPOI... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCL3 19 45262965 45262965 CA46_HAEMATOPOI... 37 3'UTR Del C - uc010xxe.1 Hybrid_Cap...
BLM p.P956L 15 91333922 91333922 CA46_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
CABC1 1 227171585 227171585 CA46_HAEMATOPOI... 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNB2 10 18828721 18828722 CA46_HAEMATOPOI... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CARD10 p.L365F 22 37903934 37903934 CA46_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003asx.1 CARD10_uc003ast... Hybrid_Cap... view
CDK11A p.T580S 1 1635533 1635533 CA46_HAEMATOPOI... 37 Missense_Mutation SNP G C uc009vks.2 CDK11B_uc001ags... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 CA46_HAEMATOPOI... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD8 14 21853630 21853630 CA46_HAEMATOPOI... 37 3'UTR Del T - rs78520772 uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CHL1 p.I658N 3 423958 423958 CA46_HAEMATOPOI... 37 Missense_Mutation SNP T A uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CHRNB4 p.G261S 15 78921866 78921866 CA46_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002bed.1 CHRNB4_uc002bee... Hybrid_Cap... view
CIITA p.H239Y 16 10996598 10996598 CA46_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002daj.3 CIITA_uc002dai.... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 CA46_HAEMATOPOI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN5 p.S886G 11 100179126 100179126 CA46_HAEMATOPOI... 37 Missense_Mutation SNP A G uc001pga.2 CNTN5_uc001pfz.... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 CA46_HAEMATOPOI... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSF3R 1 36931882 36931882 CA46_HAEMATOPOI... 37 3'UTR SNP C T uc001cax.1 MRPS15_uc001cas... Hybrid_Cap... view
DDX10 p.T398fs 11 108564298 108564299 CA46_HAEMATOPOI... 37 Frame_Shift_Del Del AT - uc001pkm.2 DDX10_uc001pkl.... Hybrid_Cap...
DLC1 p.E905Q 8 12957133 12957133 CA46_HAEMATOPOI... 37 Missense_Mutation SNP C G uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap... view
DYRK3 p.A419V 1 206821799 206821799 CA46_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001hej.2 DYRK3_uc001hek.... Hybrid_Cap... view
EIF4E 4 99808137 99808141 CA46_HAEMATOPOI... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EPHA6 3 97367230 97367231 CA46_HAEMATOPOI... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERBB4 2 212248260 212248260 CA46_HAEMATOPOI... 37 3'UTR SNP A G uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap... view
ERC1 12 1599403 1599403 CA46_HAEMATOPOI... 37 3'UTR SNP T C uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap... view
ETV1 7 14028708 14028708 CA46_HAEMATOPOI... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGF2 p.G6D 4 123747947 123747947 CA46_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003iev.1 Hybrid_Cap... view
FGFR3 4 1809128 1809129 CA46_HAEMATOPOI... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FGFR4 p.D709G 5 176523715 176523715 CA46_HAEMATOPOI... 37 Missense_Mutation SNP A G uc003mfl.2 FGFR4_uc003mfm.... Hybrid_Cap... view
FLI1 11 128638217 128638217 CA46_HAEMATOPOI... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT4 5 180035183 180035185 CA46_HAEMATOPOI... 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FN1 p.R1912C 2 216241374 216241374 CA46_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
FRK 6 116381590 116381590 CA46_HAEMATOPOI... 37 5'UTR SNP C T uc003pwi.1 Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 CA46_HAEMATOPOI... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 CA46_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 CA46_HAEMATOPOI... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HAPLN1 5 82937252 82937252 CA46_HAEMATOPOI... 37 3'UTR Del A - uc003kim.2 HAPLN1_uc003kin... Hybrid_Cap...
HGF p.A659S 7 81334741 81334741 CA46_HAEMATOPOI... 37 Missense_Mutation SNP C A uc003uhl.2 HGF_uc003uhm.2_... Hybrid_Cap... view
HNF1A 12 121434630 121434631 CA46_HAEMATOPOI... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90AB1 p.E238E 6 44218093 44218093 CA46_HAEMATOPOI... 37 Silent SNP A G uc003oxa.1 HSP90AB1_uc011d... Hybrid_Cap... view
HSP90B1 p.E791del 12 104341188 104341190 CA46_HAEMATOPOI... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IKBKB p.R645W 8 42179959 42179959 CA46_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003xow.1 IKBKB_uc011lco.... Hybrid_Cap... view
ILK 11 6630029 6630029 CA46_HAEMATOPOI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 CA46_HAEMATOPOI... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 CA46_HAEMATOPOI... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LIMK2 p.D24N 22 31654293 31654293 CA46_HAEMATOPOI... 37 Missense_Mutation SNP G A rs35923988 uc003akj.2 LIMK2_uc003akg.... Hybrid_Cap... view
LRRC7 p.E787K 1 70503980 70503980 CA46_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001dep.2 LRRC7_uc009wbg.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 CA46_HAEMATOPOI... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAPKBP1 15 42111746 42111746 CA46_HAEMATOPOI... 37 Intron Del G - uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MCF2 X 138724842 138724842 CA46_HAEMATOPOI... 37 Intron Del A - uc011mwo.1 MCF2_uc004fau.2... Hybrid_Cap...
MCL1 1 150549737 150549744 CA46_HAEMATOPOI... 37 3'UTR Del GCTAG... - rs116997851 uc001euz.2 MCL1_uc010pch.1... Hybrid_Cap...
MLLT6 17 36881873 36881873 CA46_HAEMATOPOI... 37 3'UTR Del C - uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap...
MYC p.V20I 8 128750521 128750521 CA46_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003ysi.2 MYC_uc003ysh.1_... Hybrid_Cap... view
MYC p.P72S 8 128750677 128750677 CA46_HAEMATOPOI... 37 Missense_Mutation SNP C T rs28933407 uc003ysi.2 MYC_uc003ysh.1_... Hybrid_Cap... view
MYC p.P75H 8 128750687 128750687 CA46_HAEMATOPOI... 37 Missense_Mutation SNP C A uc003ysi.2 MYC_uc003ysh.1_... Hybrid_Cap... view
MYC p.L193V 8 128751040 128751040 CA46_HAEMATOPOI... 37 Missense_Mutation SNP C G uc003ysi.2 Hybrid_Cap... view
MYC p.Q321H 8 128752802 128752802 CA46_HAEMATOPOI... 37 Missense_Mutation SNP G C uc003ysi.2 Hybrid_Cap... view
MYLK 3 123332875 123332876 CA46_HAEMATOPOI... 37 3'UTR Ins - T rs35930843;rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYLK p.E1066del 3 123419117 123419119 CA46_HAEMATOPOI... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYO3B p.F1011L 2 171355118 171355118 CA46_HAEMATOPOI... 37 Missense_Mutation SNP T C uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 CA46_HAEMATOPOI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 CA46_HAEMATOPOI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.QQQ1272del 20 46279815 46279823 CA46_HAEMATOPOI... 37 In_Frame_Del Del GCAGC... - uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 CA46_HAEMATOPOI... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFATC1 p.Q689H 18 77227557 77227557 CA46_HAEMATOPOI... 37 Missense_Mutation SNP G T uc010xfg.1 NFATC1_uc002lnc... Hybrid_Cap... view
NFIA 1 61921186 61921186 CA46_HAEMATOPOI... 37 3'UTR Del T - rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NLRP3 1 247611982 247611982 CA46_HAEMATOPOI... 37 3'UTR Del C - uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap...
NPR1 1 153665919 153665920 CA46_HAEMATOPOI... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 CA46_HAEMATOPOI... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 CA46_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H3 p.R307H 11 47283444 47283444 CA46_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001nel.2 NR1H3_uc009yll.... Hybrid_Cap... view
PAX3 2 223066017 223066018 CA46_HAEMATOPOI... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 CA46_HAEMATOPOI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q41Q 1 145015965 145015965 CA46_HAEMATOPOI... 37 Silent SNP C T uc001elx.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFRB 5 149495288 149495288 CA46_HAEMATOPOI... 37 3'UTR SNP G C uc003lro.2 CSF1R_uc003lrm.... Hybrid_Cap... view
PHKG1 p.P209L 7 56150988 56150988 CA46_HAEMATOPOI... 37 Missense_Mutation SNP G A uc011kdb.1 PSPH_uc003trj.2... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 CA46_HAEMATOPOI... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 CA46_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSKH2 p.A383V 8 87060701 87060701 CA46_HAEMATOPOI... 37 Missense_Mutation SNP G A uc011lfy.1 Hybrid_Cap... view
RASA3 p.R247S 13 114786924 114786924 CA46_HAEMATOPOI... 37 Missense_Mutation SNP C G uc001vui.2 RASA3_uc010tkk.... Hybrid_Cap... view
RASGRF1 15 79277150 79277151 CA46_HAEMATOPOI... 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RIF1 p.1837_1839EIC>G 2 152321544 152321549 CA46_HAEMATOPOI... 37 In_Frame_Del Del AAATT... - uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap...
SLK p.P687del 10 105762994 105762996 CA46_HAEMATOPOI... 37 In_Frame_Del Del TCC - uc001kxo.1 SLK_uc001kxp.1_... Hybrid_Cap...
STIL p.L455V 1 47746767 47746767 CA46_HAEMATOPOI... 37 Missense_Mutation SNP A C uc001crd.1 TAL1_uc001crb.1... Hybrid_Cap... view
STK25 2 242435659 242435662 CA46_HAEMATOPOI... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
TACC3 4 1739519 1739527 CA46_HAEMATOPOI... 37 Intron Del GCCAT... - rs114226356 uc003gdo.2 TACC3_uc010ibz.... Hybrid_Cap...
TEC 4 48139307 48139310 CA46_HAEMATOPOI... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TLK1 2 171850178 171850179 CA46_HAEMATOPOI... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TNRC6B p.Q1328del 22 40697177 40697179 CA46_HAEMATOPOI... 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP53 p.R248Q 17 7577538 7577538 CA46_HAEMATOPOI... 37 Missense_Mutation SNP C T rs11540652 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 CA46_HAEMATOPOI... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPS1 8 116635872 116635873 CA46_HAEMATOPOI... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TSC1 p.E66* 9 135802602 135802602 CA46_HAEMATOPOI... 37 Nonsense_Mutation SNP C A uc004cca.2 TSC1_uc004ccb.3... Hybrid_Cap... view
TTN 2 179391639 179391640 CA46_HAEMATOPOI... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
VCPIP1 p.K577R 8 67577464 67577464 CA46_HAEMATOPOI... 37 Missense_Mutation SNP T C uc003xwn.2 SGK3_uc003xwp.2... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 CA46_HAEMATOPOI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
YSK4 p.L209M 2 135745817 135745817 CA46_HAEMATOPOI... 37 Missense_Mutation SNP G T uc002tue.1 YSK4_uc002tuf.1... Hybrid_Cap... view