Annotation Summary for Cell Line: 697  

Cell line primary name: 697
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: acute_lymphoblastic_B_cell_leukaemia
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_E04_474704
SNP arrays: MISTS_p_NCLE_DNAAffy11_GenomeWideSNP_6_F12_578410
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in 697

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 697_HAEMATOPOIE... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630245 9630245 697_HAEMATOPOIE... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 697_HAEMATOPOIE... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 697_HAEMATOPOIE... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 697_HAEMATOPOIE... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 697_HAEMATOPOIE... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ATP8B1 p.A93_splice 18 55373720 55373720 697_HAEMATOPOIE... 37 Splice_Site_SNP SNP A G uc002lgw.2 Hybrid_Cap... view
BCL11A 2 60687400 60687401 697_HAEMATOPOIE... 37 3'UTR Ins - TGTT rs34355930 uc002sae.1 BCL11A_uc002sab... Hybrid_Cap...
BCR 22 23631813 23631814 697_HAEMATOPOIE... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BIRC5 17 76219784 76219785 697_HAEMATOPOIE... 37 3'UTR Ins - AA uc002jvf.2 BIRC5_uc002jvg.... Hybrid_Cap...
CACNB2 10 18828721 18828722 697_HAEMATOPOIE... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CCR5 p.V131F 3 46414784 46414784 697_HAEMATOPOIE... 37 Missense_Mutation SNP G T rs34418657 uc003cpo.3 CCR5_uc010hjd.2... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 697_HAEMATOPOIE... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 697_HAEMATOPOIE... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CRKL p.P215del 22 21288396 21288398 697_HAEMATOPOIE... 37 In_Frame_Del Del CTC - uc002ztf.2 CRKL_uc002ztg.1... Hybrid_Cap...
CSMD3 8 114389092 114389092 697_HAEMATOPOIE... 37 Intron SNP G A uc003ynu.2 CSMD3_uc003ynt.... Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 697_HAEMATOPOIE... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CYP17A1 p.D281N 10 104592878 104592878 697_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc001kwg.2 Hybrid_Cap... view
EP300 22 41574970 41574972 697_HAEMATOPOIE... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA3 p.E374K 3 89391054 89391054 697_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc003dqy.2 EPHA3_uc003dqx.... Hybrid_Cap... view
EWSR1 22 29687480 29687481 697_HAEMATOPOIE... 37 Intron Ins - C rs66871950 uc003aev.2 EWSR1_uc003aet.... Hybrid_Cap...
FLI1 11 128638217 128638217 697_HAEMATOPOIE... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 697_HAEMATOPOIE... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GLYATL2 11 58601858 58601858 697_HAEMATOPOIE... 37 3'UTR Del T - uc001nnd.3 GLYATL2_uc009ym... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 697_HAEMATOPOIE... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 697_HAEMATOPOIE... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 697_HAEMATOPOIE... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1A 12 121434630 121434631 697_HAEMATOPOIE... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 697_HAEMATOPOIE... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGA5 12 54789894 54789894 697_HAEMATOPOIE... 37 3'UTR SNP G C uc001sga.2 Hybrid_Cap... view
ITGB8 7 20371408 20371408 697_HAEMATOPOIE... 37 5'UTR SNP G A uc003suu.2 ITGB8_uc011jyh.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 697_HAEMATOPOIE... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIAA1409 p.T1905I 14 94112971 94112971 697_HAEMATOPOIE... 37 Missense_Mutation SNP C T rs77267660 uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap... view
KLK7 19 51480672 51480675 697_HAEMATOPOIE... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 697_HAEMATOPOIE... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 697_HAEMATOPOIE... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK14 6 36076345 36076354 697_HAEMATOPOIE... 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 697_HAEMATOPOIE... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
NCAM1 11 112832307 112832308 697_HAEMATOPOIE... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 697_HAEMATOPOIE... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.QQQ1272del 20 46279815 46279823 697_HAEMATOPOIE... 37 In_Frame_Del Del GCAGC... - uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK10 p.D81V 3 27233719 27233719 697_HAEMATOPOIE... 37 Missense_Mutation SNP T A uc010hfk.2 NEK10_uc003cds.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 697_HAEMATOPOIE... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 697_HAEMATOPOIE... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NOTCH3 p.I1890_splice 19 15276327 15276327 697_HAEMATOPOIE... 37 Splice_Site_SNP SNP C G uc002nan.2 Hybrid_Cap... view
NPM1 5 170837734 170837734 697_HAEMATOPOIE... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 697_HAEMATOPOIE... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 697_HAEMATOPOIE... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRAS p.G12D 1 115258747 115258747 697_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc009wgu.2 Hybrid_Cap... view
OBSCN 1 228548542 228548542 697_HAEMATOPOIE... 37 Intron SNP G C uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PAX3 2 223158653 223158653 697_HAEMATOPOIE... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX5 p.R225fs 9 36966653 36966653 697_HAEMATOPOIE... 37 Frame_Shift_Del Del G - uc003zzo.1 PAX5_uc011lpt.1... Hybrid_Cap...
PDIK1L p.E281K 1 26448883 26448883 697_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc010oew.1 PDIK1L_uc001blj... Hybrid_Cap... view
PGR 11 100933598 100933599 697_HAEMATOPOIE... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 697_HAEMATOPOIE... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PRKCA 17 64298959 64298960 697_HAEMATOPOIE... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKCE p.V160A 2 46203634 46203634 697_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc002rut.2 Hybrid_Cap... view
PRKD2 p.T427T 19 47200450 47200450 697_HAEMATOPOIE... 37 Silent SNP C T uc010xye.1 PRKD2_uc002pfe.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 697_HAEMATOPOIE... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 697_HAEMATOPOIE... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KA2 p.A657S 6 166831757 166831757 697_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc003qvd.1 RPS6KA2_uc011eg... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 697_HAEMATOPOIE... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 697_HAEMATOPOIE... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
TGFB1 p.S209R 19 41850661 41850661 697_HAEMATOPOIE... 37 Missense_Mutation SNP T G uc002oqh.1 CYP2F1_uc010xvw... Hybrid_Cap... view
TRRAP p.V2870M 7 98576522 98576522 697_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc003upp.2 TRRAP_uc011kis.... Hybrid_Cap... view
TSSK3 p.M76T 1 32829277 32829277 697_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc001bvf.2 Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 697_HAEMATOPOIE... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN 2 179391640 179391640 697_HAEMATOPOIE... 37 3'UTR Del T - uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
UBE3B 12 109972602 109972602 697_HAEMATOPOIE... 37 3'UTR SNP C T uc001top.2 UBE3B_uc001toq.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 697_HAEMATOPOIE... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...