Annotation Summary for Cell Line: HDLM-2  

Cell line primary name: HDLM-2
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: Hodgkin_lymphoma
Notes:
Source: DSMZ
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_H10_523618
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_F02_490448
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in HDLM-2

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ACACA 17 35766564 35766564 HDLM2_HAEMATOPO... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM17 2 9630245 9630245 HDLM2_HAEMATOPO... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 HDLM2_HAEMATOPO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 HDLM2_HAEMATOPO... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 HDLM2_HAEMATOPO... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
APC p.P2467L 5 112178690 112178691 HDLM2_HAEMATOPO... 37 Missense_Mutation DNP CC TT uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap...
AR p.S244L X 66765719 66765719 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP C T uc004dwu.1 AR_uc011mpd.1_M... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 HDLM2_HAEMATOPO... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
AURKC 19 57742494 57742507 HDLM2_HAEMATOPO... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
CACNB2 10 18828721 18828722 HDLM2_HAEMATOPO... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDH2 p.Q663E 18 25565186 25565186 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP G C uc002kwg.2 CDH2_uc010xbn.1... Hybrid_Cap... view
CDK11B 1 1654066 1654068 HDLM2_HAEMATOPO... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 HDLM2_HAEMATOPO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CSMD3 p.S3172C 8 113277814 113277814 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP T A uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.D2079N 8 113364665 113364665 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP C T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.R336C 8 114031320 114031320 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP G A uc003ynu.2 CSMD3_uc003ynt.... Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 HDLM2_HAEMATOPO... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CXCL12 10 44873992 44873993 HDLM2_HAEMATOPO... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DACH1 13 72014625 72014626 HDLM2_HAEMATOPO... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DYRK1A 21 38884966 38884967 HDLM2_HAEMATOPO... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EIF4E 4 99808137 99808141 HDLM2_HAEMATOPO... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
ELL p.N353S 19 18561694 18561694 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP T C uc002njh.2 ELL_uc010ebq.2_... Hybrid_Cap... view
EP300 p.M165I 22 41513591 41513591 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP G A uc003azl.3 Hybrid_Cap... view
EP300 22 41574970 41574972 HDLM2_HAEMATOPO... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA5 4 66189753 66189754 HDLM2_HAEMATOPO... 37 3'UTR Ins - T rs67487372 uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap...
EPHA6 3 97367230 97367231 HDLM2_HAEMATOPO... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB6 p.C18F 7 142561038 142561038 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP G T uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap... view
ERBB4 p.E316D 2 212578309 212578309 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP T A uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap... view
ETV1 7 14028708 14028708 HDLM2_HAEMATOPO... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FBN2 p.E1993K 5 127637143 127637143 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP C T uc003kuu.2 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 HDLM2_HAEMATOPO... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 HDLM2_HAEMATOPO... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNC p.E365G 7 128478367 128478367 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP A G uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FN1 2 216244182 216244185 HDLM2_HAEMATOPO... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GRIA3 X 122318386 122318387 HDLM2_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2A p.T888M 16 9858738 9858738 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP G A uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 HDLM2_HAEMATOPO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC3 p.P23R 5 141016185 141016185 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP G C uc003llf.2 HDAC3_uc003lle.... Hybrid_Cap... view
HNRNPH1 5 179050191 179050191 HDLM2_HAEMATOPO... 37 Intron SNP G C uc003mkf.3 HNRNPH1_uc003mk... Hybrid_Cap... view
HORMAD1 p.Q341* 1 150675797 150675797 HDLM2_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc001evk.1 HORMAD1_uc001ev... Hybrid_Cap... view
HOXC11 p.F242L 12 54369008 54369008 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP C G uc001sem.2 Hybrid_Cap... view
IGF1R 15 99192755 99192763 HDLM2_HAEMATOPO... 37 5'UTR Del TTTTT... - uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap...
ILK 11 6630029 6630029 HDLM2_HAEMATOPO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGAV p.T612M 2 187523880 187523880 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP C T uc002upq.2 ITGAV_uc010frs.... Hybrid_Cap... view
ITPR1 p.P801L 3 4715017 4715017 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP C T uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 HDLM2_HAEMATOPO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KDM5A p.Y739C 12 432307 432307 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP T C uc001qif.1 KDM5A_uc001qie.... Hybrid_Cap... view
KLK7 19 51480672 51480675 HDLM2_HAEMATOPO... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRP1B p.E370K 2 141819748 141819748 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP C T uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
MAF 16 79628537 79628537 HDLM2_HAEMATOPO... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAF 16 79628325 79628325 HDLM2_HAEMATOPO... 37 3'UTR Del A - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 HDLM2_HAEMATOPO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 HDLM2_HAEMATOPO... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 HDLM2_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K5 6 136878752 136878752 HDLM2_HAEMATOPO... 37 3'UTR Del T - rs79903899 uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap...
MCF2 p.D739N X 138679687 138679687 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP C T uc011mwo.1 MCF2_uc004fau.2... Hybrid_Cap... view
MYLK p.V1213L 3 123401086 123401086 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP C G uc003ego.2 MYLK_uc011bjv.1... Hybrid_Cap... view
NCAM1 11 112832307 112832308 HDLM2_HAEMATOPO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 HDLM2_HAEMATOPO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 HDLM2_HAEMATOPO... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 HDLM2_HAEMATOPO... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NOTCH1 9 139390516 139390516 HDLM2_HAEMATOPO... 37 3'UTR SNP G A uc004chz.2 Hybrid_Cap... view
NPR1 1 153665919 153665920 HDLM2_HAEMATOPO... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 HDLM2_HAEMATOPO... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 HDLM2_HAEMATOPO... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OBSCN 1 228548542 228548542 HDLM2_HAEMATOPO... 37 Intron SNP G C uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OBSCN p.A6838fs 1 228558993 228558994 HDLM2_HAEMATOPO... 37 Frame_Shift_Del Del CA - uc009xez.1 OBSCN_uc001hsr.... Hybrid_Cap...
OSR1 p.E174K 2 19553047 19553047 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP C T uc002rdc.2 Hybrid_Cap... view
P2RX7 p.T205M 12 121603240 121603240 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP C T uc001tzm.2 P2RX7_uc001tzn.... Hybrid_Cap... view
PAX3 2 223158653 223158653 HDLM2_HAEMATOPO... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAXIP1 p.N1018S 7 154738393 154738393 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP T C uc003wlp.2 LOC100132707_uc... Hybrid_Cap... view
PDE4DIP p.G1849C 1 144866697 144866697 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP C A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PGR 11 100933598 100933599 HDLM2_HAEMATOPO... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIP4K2C p.V234_splice 12 57994106 57994106 HDLM2_HAEMATOPO... 37 Splice_Site_SNP SNP G A uc001sou.2 PIP4K2C_uc001so... Hybrid_Cap... view
PLK4 p.R777C 4 128814674 128814674 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP C T uc003ifo.2 PLK4_uc011cgs.1... Hybrid_Cap... view
PRDM16 p.G766D 1 3329058 3329058 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP G A uc001akf.2 PRDM16_uc001akc... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 HDLM2_HAEMATOPO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSIP1 p.E114K 9 15486878 15486878 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP C T uc003zlv.3 PSIP1_uc003zlw.... Hybrid_Cap... view
PTPRD p.S912F 9 8486082 8486082 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP G A uc003zkk.2 PTPRD_uc003zkp.... Hybrid_Cap... view
PTPRU p.G1093S 1 29641903 29641903 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP G A uc001bru.2 PTPRU_uc001brv.... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 HDLM2_HAEMATOPO... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 HDLM2_HAEMATOPO... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SLC6A8 X 152957656 152957657 HDLM2_HAEMATOPO... 37 Intron Ins - A uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap...
SORL1 p.P1465L 11 121466356 121466356 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP C T uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap... view
STAT3 p.D661Y 17 40474420 40474420 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP C A uc002hzl.1 STAT3_uc002hzk.... Hybrid_Cap... view
STK31 7 23872024 23872025 HDLM2_HAEMATOPO... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAF1L p.G1120R 9 32632220 32632220 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP C T uc003zrg.1 Hybrid_Cap... view
TEC 4 48139307 48139310 HDLM2_HAEMATOPO... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TEC p.P528S 4 48140993 48140993 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP G A uc003gxz.2 Hybrid_Cap... view
TLK1 2 171850178 171850179 HDLM2_HAEMATOPO... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 HDLM2_HAEMATOPO... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNNI3K 1 74836270 74836270 HDLM2_HAEMATOPO... 37 Intron SNP C G uc001dge.1 TNNI3K_uc001dgc... Hybrid_Cap... view
TPH1 p.H343R 11 18044477 18044477 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP T C uc001mnp.2 TPH1_uc009yhe.2... Hybrid_Cap... view
TRIM33 1 114940215 114940216 HDLM2_HAEMATOPO... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPS1 8 116635872 116635873 HDLM2_HAEMATOPO... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN p.L12696V 2 179485547 179485547 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP G C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UNC13C 15 54919410 54919410 HDLM2_HAEMATOPO... 37 3'UTR SNP G T uc002ack.2 UNC13C_uc002acm... Hybrid_Cap... view
VEGFA 6 43746423 43746423 HDLM2_HAEMATOPO... 37 Intron SNP A G rs3025048 uc003owh.2 VEGFA_uc003owc.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 HDLM2_HAEMATOPO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VEGFC p.L371V 4 177608375 177608375 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP A C uc003ius.1 Hybrid_Cap... view
VEGFC p.P355S 4 177608423 177608423 HDLM2_HAEMATOPO... 37 Missense_Mutation SNP G A uc003ius.1 Hybrid_Cap... view
WDHD1 14 55408116 55408117 HDLM2_HAEMATOPO... 37 3'UTR Del AT - uc001xbm.1 WDHD1_uc010aom.... Hybrid_Cap...
ZAK 2 174131511 174131512 HDLM2_HAEMATOPO... 37 3'UTR Ins - AAAA rs75896701 uc002uhz.2 Hybrid_Cap...