Annotation Summary for Cell Line: HD-MY-Z  

Cell line primary name: HD-MY-Z
Cell line aliases:
Gender:
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: Hodgkin_lymphoma
Notes:
Source: DSMZ
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_C01_296038
SNP arrays: HONEY_p_NCLE_DNAAffy3_S_GenomeWideSNP_6_E04_293382
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in HD-MY-Z

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 HDMYZ_HAEMATOPO... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABL1 p.I1146T 9 133761057 133761057 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP T C uc004bzv.2 ABL1_uc004bzw.2... Hybrid_Cap... view
ADAM17 2 9630245 9630245 HDMYZ_HAEMATOPO... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM22 p.G682E 7 87785303 87785303 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP G A uc003ujp.1 ADAM22_uc003ujk... Hybrid_Cap... view
ADAM28 8 24211994 24211997 HDMYZ_HAEMATOPO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 HDMYZ_HAEMATOPO... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 HDMYZ_HAEMATOPO... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 HDMYZ_HAEMATOPO... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ARHGEF7 p.M354I 13 111919943 111919943 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP G A uc001vrs.2 ARHGEF7_uc001vr... Hybrid_Cap... view
ARID1A 1 27107263 27107264 HDMYZ_HAEMATOPO... 37 3'UTR Ins - C rs3841356 uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap...
ASPH p.A264_splice 8 62550924 62550925 HDMYZ_HAEMATOPO... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
BCR 22 23631813 23631814 HDMYZ_HAEMATOPO... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 HDMYZ_HAEMATOPO... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR p.W1235R 22 23656878 23656878 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP T A rs55719322 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap... view
CDH1 p.L276P 16 68844239 68844239 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP T C uc002ewg.1 CDH1_uc010vlj.1... Hybrid_Cap... view
CDK10 16 89759883 89759885 HDMYZ_HAEMATOPO... 37 Intron Del CTT - uc010cio.2 CDK10_uc010cip.... Hybrid_Cap...
CIITA p.E584G 16 11001097 11001097 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP A G uc002daj.3 CIITA_uc002dai.... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 HDMYZ_HAEMATOPO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CSMD3 p.941_946QTELNY>H 8 113668550 113668564 HDMYZ_HAEMATOPO... 37 In_Frame_Del Del TAATT... - uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap...
CYP27B1 p.Q504* 12 58156942 58156942 HDMYZ_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc001spz.1 CYP27B1_uc001sq... Hybrid_Cap... view
DACH1 13 72014625 72014626 HDMYZ_HAEMATOPO... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DNAH8 p.I2844T 6 38867670 38867670 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP T C uc003ooe.1 Hybrid_Cap... view
DNAH8 6 38952247 38952248 HDMYZ_HAEMATOPO... 37 Intron Del CA - uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
EDN1 6 12290729 12290729 HDMYZ_HAEMATOPO... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EDN1 6 12296150 12296151 HDMYZ_HAEMATOPO... 37 Intron Ins - T rs66570617 uc003nae.3 EDN1_uc003nad.2... Hybrid_Cap...
EIF4E 4 99808137 99808141 HDMYZ_HAEMATOPO... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EP300 p.G1506V 22 41568567 41568567 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP G T uc003azl.3 Hybrid_Cap... view
EP300 22 41574970 41574972 HDMYZ_HAEMATOPO... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
ETV1 7 14028708 14028708 HDMYZ_HAEMATOPO... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
F8 p.T500fs X 154189387 154189387 HDMYZ_HAEMATOPO... 37 Frame_Shift_Del Del A - uc004fmt.2 Hybrid_Cap...
FANCC 9 97863893 97863893 HDMYZ_HAEMATOPO... 37 3'UTR SNP T C rs55687573 uc004avh.2 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 HDMYZ_HAEMATOPO... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 HDMYZ_HAEMATOPO... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNA p.G475V X 153594397 153594397 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP C A uc004fkk.2 FLNA_uc010nuu.1... Hybrid_Cap... view
FN1 2 216244182 216244185 HDMYZ_HAEMATOPO... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 HDMYZ_HAEMATOPO... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 HDMYZ_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 HDMYZ_HAEMATOPO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 HDMYZ_HAEMATOPO... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
ILK 11 6630029 6630029 HDMYZ_HAEMATOPO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 HDMYZ_HAEMATOPO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
LMNA 1 156106690 156106690 HDMYZ_HAEMATOPO... 37 Intron SNP C T uc001fni.2 LMNA_uc001fnf.1... Hybrid_Cap... view
MAF 16 79628537 79628537 HDMYZ_HAEMATOPO... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 HDMYZ_HAEMATOPO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 HDMYZ_HAEMATOPO... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 HDMYZ_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK6 p.N522K 15 52356597 52356597 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP T G uc002abp.2 Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 HDMYZ_HAEMATOPO... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAST4 p.A1762G 5 66460859 66460859 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP C G uc003jut.1 MAST4_uc003juw.... Hybrid_Cap... view
MCM3AP p.G1434G 21 47666789 47666789 HDMYZ_HAEMATOPO... 37 Silent SNP G A uc002zir.1 MCM3APAS_uc002z... Hybrid_Cap... view
MLLT1 p.R220C 19 6222584 6222584 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP G A uc002mek.2 Hybrid_Cap... view
MYH11 p.T674M 16 15844053 15844053 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP G A uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap... view
NACA p.L158H 12 57114841 57114841 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP A T uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 HDMYZ_HAEMATOPO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 HDMYZ_HAEMATOPO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA2 8 71025660 71025660 HDMYZ_HAEMATOPO... 37 3'UTR SNP C A uc003xyn.1 NCOA2_uc011lfb.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 HDMYZ_HAEMATOPO... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 HDMYZ_HAEMATOPO... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NOTCH4 p.A1799V 6 32163830 32163830 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP G A uc003obb.2 GPSM3_uc003oaz.... Hybrid_Cap... view
NPM1 5 170837734 170837734 HDMYZ_HAEMATOPO... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 HDMYZ_HAEMATOPO... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRAS p.G13D 1 115258744 115258744 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP C T rs121434596 uc009wgu.2 Hybrid_Cap... view
NUP214 9 134067556 134067557 HDMYZ_HAEMATOPO... 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
PATZ1 p.T576T 22 31723213 31723213 HDMYZ_HAEMATOPO... 37 Silent SNP C T uc003akq.2 PATZ1_uc003akp.... Hybrid_Cap... view
PAX3 2 223158653 223158653 HDMYZ_HAEMATOPO... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX5 9 37034095 37034095 HDMYZ_HAEMATOPO... 37 5'UTR Del C - uc003zzo.1 PAX5_uc011lpw.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 HDMYZ_HAEMATOPO... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 HDMYZ_HAEMATOPO... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP 1 144931681 144931681 HDMYZ_HAEMATOPO... 37 Intron SNP G C uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFRA 4 55130162 55130162 HDMYZ_HAEMATOPO... 37 Intron Del T - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PDGFRA 4 55131002 55131002 HDMYZ_HAEMATOPO... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PGGT1B 5 114548071 114548072 HDMYZ_HAEMATOPO... 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PGR 11 100933598 100933599 HDMYZ_HAEMATOPO... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 HDMYZ_HAEMATOPO... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PLK3 p.G256E 1 45268644 45268644 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP G A uc001cmn.2 PLK3_uc001cmo.2... Hybrid_Cap... view
PLK3 1 45271449 45271449 HDMYZ_HAEMATOPO... 37 3'UTR SNP C A uc001cmn.2 PLK3_uc001cmo.2... Hybrid_Cap... view
PMS1 2 190670539 190670540 HDMYZ_HAEMATOPO... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 HDMYZ_HAEMATOPO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPN1 p.M74L 20 49181571 49181571 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP A C uc002xvl.2 PTPN1_uc010zys.... Hybrid_Cap... view
RAF1 p.E343G 3 12641270 12641270 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP T C uc003bxf.3 RAF1_uc011aut.1... Hybrid_Cap... view
RANBP9 p.L497I 6 13639831 13639831 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP A T uc003nbb.2 RANBP9_uc003nba... Hybrid_Cap... view
RAPGEF2 p.R734C 4 160262864 160262864 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP C T uc003iqg.3 Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 HDMYZ_HAEMATOPO... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
SIK3 p.R666_splice 11 116732556 116732556 HDMYZ_HAEMATOPO... 37 Splice_Site_SNP SNP C T uc001ppy.2 SIK3_uc001ppz.2... Hybrid_Cap... view
STK31 7 23872024 23872025 HDMYZ_HAEMATOPO... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 HDMYZ_HAEMATOPO... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB2 1 218519928 218519929 HDMYZ_HAEMATOPO... 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TMEM123 11 102269398 102269398 HDMYZ_HAEMATOPO... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNFRSF11B p.R144G 8 119941139 119941139 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP T C uc003yon.3 TNFRSF11B_uc010... Hybrid_Cap... view
TOX3 p.T117A 16 52497905 52497905 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP T C uc010vgu.1 TOX3_uc002egw.2... Hybrid_Cap... view
TP53 p.I232fs 17 7577575 7577585 HDMYZ_HAEMATOPO... 37 Frame_Shift_Del Del AGTTG... - uc002gim.2 TP53_uc002gig.1... Hybrid_Cap...
TTN p.H28086Q 2 179414487 179414487 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP G C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.V14683A 2 179474285 179474285 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN 2 179604891 179604891 HDMYZ_HAEMATOPO... 37 Intron SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 HDMYZ_HAEMATOPO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK3 p.P1003L X 54275773 54275773 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP G A uc004dtc.1 WNK3_uc004dtd.1... Hybrid_Cap... view
ZFYVE9 p.T876K 1 52740137 52740137 HDMYZ_HAEMATOPO... 37 Missense_Mutation SNP C A uc001cto.2 ZFYVE9_uc001ctp... Hybrid_Cap... view