Annotation Summary for Cell Line: KMS-11  

Cell line primary name: KMS-11
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: plasma_cell_myeloma
Notes:
Source: HSRRB
Expression arrays: BUNDS_p_NCLE_RNA5_HG-U133_Plus_2_G05_419804
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_D07_437514
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KMS-11

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 KMS11_HAEMATOPO... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 p.K820R 2 9630322 9630322 KMS11_HAEMATOPO... 37 Missense_Mutation SNP T C uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap... view
ADAM22 7 87760799 87760799 KMS11_HAEMATOPO... 37 Intron SNP A G uc003ujp.1 ADAM22_uc003ujj... Hybrid_Cap... view
ADAM28 8 24211994 24211997 KMS11_HAEMATOPO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP9 p.S564P 7 91630921 91630921 KMS11_HAEMATOPO... 37 Missense_Mutation SNP T C uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap... view
ALPK2 p.EDTST1006del 18 56204388 56204402 KMS11_HAEMATOPO... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALS2 2 202587706 202587707 KMS11_HAEMATOPO... 37 Intron Ins - A rs3219165 uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
ATP13A5 p.G820E 3 193028493 193028493 KMS11_HAEMATOPO... 37 Missense_Mutation SNP C T uc011bsq.1 Hybrid_Cap... view
ATR p.R109W 3 142281919 142281919 KMS11_HAEMATOPO... 37 Missense_Mutation SNP G A uc003eux.3 Hybrid_Cap... view
AURKC 19 57742531 57742532 KMS11_HAEMATOPO... 37 5'UTR Ins - C uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCL9 p.G434A 1 147091262 147091262 KMS11_HAEMATOPO... 37 Missense_Mutation SNP G C uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap... view
C15ORF2 p.A259G 15 24921790 24921790 KMS11_HAEMATOPO... 37 Missense_Mutation SNP C G uc001ywo.2 Hybrid_Cap... view
CACNB2 10 18828721 18828722 KMS11_HAEMATOPO... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDK11B 1 1654066 1654068 KMS11_HAEMATOPO... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK19 p.I294V 6 110944546 110944546 KMS11_HAEMATOPO... 37 Missense_Mutation SNP T C uc003puh.1 CDK19_uc003pui.... Hybrid_Cap... view
CHD9 p.P2470S 16 53348780 53348780 KMS11_HAEMATOPO... 37 Missense_Mutation SNP C T uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 KMS11_HAEMATOPO... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CTNNA2 p.T37A 2 79971519 79971519 KMS11_HAEMATOPO... 37 Missense_Mutation SNP A G uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
CYLD 16 50820950 50820950 KMS11_HAEMATOPO... 37 Intron SNP G A uc002egp.1 CYLD_uc010cbs.1... Hybrid_Cap... view
DACH1 13 72014625 72014626 KMS11_HAEMATOPO... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DDR1 p.P812L 6 30866050 30866050 KMS11_HAEMATOPO... 37 Missense_Mutation SNP C T uc003nrv.2 DDR1_uc010jse.2... Hybrid_Cap... view
DDR2 1 162750211 162750212 KMS11_HAEMATOPO... 37 3'UTR Del TT - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DIP2C p.N753K 10 412224 412224 KMS11_HAEMATOPO... 37 Missense_Mutation SNP G C uc001ifp.2 DIP2C_uc009xhi.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 KMS11_HAEMATOPO... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA8 p.E424K 1 22915654 22915654 KMS11_HAEMATOPO... 37 Missense_Mutation SNP G A uc001bfx.1 EPHA8_uc001bfw.... Hybrid_Cap... view
ERN1 p.S81G 17 62157063 62157063 KMS11_HAEMATOPO... 37 Missense_Mutation SNP T C uc002jdz.2 Hybrid_Cap... view
EXT1 p.V538I 8 118830694 118830694 KMS11_HAEMATOPO... 37 Missense_Mutation SNP C T uc003yok.1 Hybrid_Cap... view
FANCM p.R1500G 14 45653088 45653088 KMS11_HAEMATOPO... 37 Missense_Mutation SNP A G uc001wwd.3 FANCM_uc010anf.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 KMS11_HAEMATOPO... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 p.Y375C 4 1806099 1806099 KMS11_HAEMATOPO... 37 Missense_Mutation SNP A G uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap... view
FLI1 11 128638217 128638217 KMS11_HAEMATOPO... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 p.T2121S 2 216236984 216236984 KMS11_HAEMATOPO... 37 Missense_Mutation SNP G C uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
FN1 2 216244182 216244185 KMS11_HAEMATOPO... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GCK 7 44228664 44228664 KMS11_HAEMATOPO... 37 5'UTR SNP C T uc003tkl.2 Hybrid_Cap... view
GPC3 X 132888208 132888208 KMS11_HAEMATOPO... 37 Intron Del A - uc010nrn.1 GPC3_uc004exd.1... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 KMS11_HAEMATOPO... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 KMS11_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 KMS11_HAEMATOPO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
GUCY2F p.Q259K X 108708628 108708628 KMS11_HAEMATOPO... 37 Missense_Mutation SNP G T uc004eod.3 GUCY2F_uc011msq... Hybrid_Cap... view
GUCY2F p.I244_splice X 108708674 108708674 KMS11_HAEMATOPO... 37 Splice_Site_SNP SNP T C uc004eod.3 GUCY2F_uc011msq... Hybrid_Cap... view
HERC2 p.A1276T 15 28483286 28483286 KMS11_HAEMATOPO... 37 Missense_Mutation SNP C T uc001zbj.2 Hybrid_Cap... view
HNF1A 12 121434630 121434631 KMS11_HAEMATOPO... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.R70fs 12 104326110 104326113 KMS11_HAEMATOPO... 37 Frame_Shift_Del Del AGAG - uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IL1A p.K82M 2 113539255 113539255 KMS11_HAEMATOPO... 37 Missense_Mutation SNP T A uc002tig.2 Hybrid_Cap... view
IL1RAP 3 190347336 190347336 KMS11_HAEMATOPO... 37 Intron SNP T C rs35274315 uc003fsq.2 IL1RAP_uc003fsk... Hybrid_Cap... view
ILK 11 6630029 6630029 KMS11_HAEMATOPO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INPP4B p.I584T 4 143045883 143045883 KMS11_HAEMATOPO... 37 Missense_Mutation SNP A G uc003iix.3 INPP4B_uc003iiw... Hybrid_Cap... view
ISG15 1 948846 948847 KMS11_HAEMATOPO... 37 5'UTR Ins - A rs33916361 uc001acj.3 Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 KMS11_HAEMATOPO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 KMS11_HAEMATOPO... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMA1 p.E2319K 18 6966241 6966241 KMS11_HAEMATOPO... 37 Missense_Mutation SNP C T uc002knm.2 LAMA1_uc002knl.... Hybrid_Cap... view
LATS1 p.E594K 6 150004445 150004445 KMS11_HAEMATOPO... 37 Missense_Mutation SNP C T uc003qmu.1 LATS1_uc010kif.... Hybrid_Cap... view
LATS2 13 21620222 21620223 KMS11_HAEMATOPO... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LGR5 p.L95_splice 12 71898466 71898466 KMS11_HAEMATOPO... 37 Splice_Site_SNP SNP G T uc001swl.2 LGR5_uc001swm.2... Hybrid_Cap... view
LGR5 p.Y820H 12 71978248 71978248 KMS11_HAEMATOPO... 37 Missense_Mutation SNP T C uc001swl.2 LGR5_uc001swm.2... Hybrid_Cap... view
LRP1B p.R2425K 2 141299461 141299461 KMS11_HAEMATOPO... 37 Missense_Mutation SNP C T uc002tvj.1 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 KMS11_HAEMATOPO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K5 15 67951229 67951229 KMS11_HAEMATOPO... 37 Intron Del A - uc002aqu.2 MAP2K5_uc002aqt... Hybrid_Cap...
MAP3K5 p.I653V 6 136958522 136958522 KMS11_HAEMATOPO... 37 Missense_Mutation SNP T C uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap... view
MAP4K4 2 102476354 102476354 KMS11_HAEMATOPO... 37 Intron SNP A G uc002tbc.2 MAP4K4_uc002tbd... Hybrid_Cap... view
MEF2A p.K25* 15 100185784 100185784 KMS11_HAEMATOPO... 37 Nonsense_Mutation SNP A T uc010urw.1 MEF2A_uc010urv.... Hybrid_Cap... view
MEF2A p.QQQQQQQ420del 15 100252710 100252730 KMS11_HAEMATOPO... 37 In_Frame_Del Del CAGCA... - uc010urw.1 MEF2A_uc010urv.... Hybrid_Cap...
MLLT3 9 20346377 20346378 KMS11_HAEMATOPO... 37 3'UTR Ins - A rs66943046 uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MMP2 p.R161Q 16 55518029 55518029 KMS11_HAEMATOPO... 37 Missense_Mutation SNP G A uc002ehz.3 MMP2_uc010vhd.1... Hybrid_Cap... view
MYCL1 1 40363017 40363017 KMS11_HAEMATOPO... 37 3'UTR SNP G C uc001cer.1 MYCL1_uc001ces.... Hybrid_Cap... view
MYLK 3 123332876 123332876 KMS11_HAEMATOPO... 37 3'UTR Del T - rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
NCAM1 11 112832307 112832308 KMS11_HAEMATOPO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KMS11_HAEMATOPO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 20 46282339 46282340 KMS11_HAEMATOPO... 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 KMS11_HAEMATOPO... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 KMS11_HAEMATOPO... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NFKB1 p.D917_splice 4 103534740 103534741 KMS11_HAEMATOPO... 37 Splice_Site_Ins Ins - A rs35795162 uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap...
NIN p.E1552K 14 51221470 51221470 KMS11_HAEMATOPO... 37 Missense_Mutation SNP C T uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap... view
NOTCH3 p.H823N 19 15295205 15295206 KMS11_HAEMATOPO... 37 Missense_Mutation DNP GA TT uc002nan.2 NOTCH3_uc002nao... Hybrid_Cap...
NPAT p.S108R 11 108061194 108061194 KMS11_HAEMATOPO... 37 Missense_Mutation SNP A C uc001pjz.3 NPAT_uc001pka.2... Hybrid_Cap... view
NPAT p.S108C 11 108061196 108061196 KMS11_HAEMATOPO... 37 Missense_Mutation SNP T A uc001pjz.3 NPAT_uc001pka.2... Hybrid_Cap... view
NPR1 1 153665919 153665920 KMS11_HAEMATOPO... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KMS11_HAEMATOPO... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 KMS11_HAEMATOPO... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OBSCN 1 228456054 228456054 KMS11_HAEMATOPO... 37 Intron SNP G T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PAK2 p.L218F 3 196534730 196534730 KMS11_HAEMATOPO... 37 Missense_Mutation SNP A C uc003fwy.3 Hybrid_Cap... view
PAX3 2 223158653 223158653 KMS11_HAEMATOPO... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PGR 11 100933598 100933599 KMS11_HAEMATOPO... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2A 11 17111198 17111199 KMS11_HAEMATOPO... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PLEKHA5 p.P166P 12 19410432 19410432 KMS11_HAEMATOPO... 37 Silent SNP T C uc010sie.1 PLEKHA5_uc001re... Hybrid_Cap... view
PML 15 74327581 74327581 KMS11_HAEMATOPO... 37 Intron SNP G A uc002awv.2 PML_uc002awm.2_... Hybrid_Cap... view
PRKCA 17 64298959 64298960 KMS11_HAEMATOPO... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 KMS11_HAEMATOPO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTCH1 p.D898N 9 98224149 98224149 KMS11_HAEMATOPO... 37 Missense_Mutation SNP C T uc004avk.3 PTCH1_uc010mro.... Hybrid_Cap... view
PTPRD p.L1036V 9 8485274 8485274 KMS11_HAEMATOPO... 37 Missense_Mutation SNP G C uc003zkk.2 PTPRD_uc003zkp.... Hybrid_Cap... view
RAD21 p.D292H 8 117868468 117868468 KMS11_HAEMATOPO... 37 Missense_Mutation SNP C G uc003yod.2 Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 KMS11_HAEMATOPO... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
SEPT5 p.R236Q 22 19708382 19708382 KMS11_HAEMATOPO... 37 Missense_Mutation SNP G A uc002zpv.1 SEPT5_uc002zpw.... Hybrid_Cap... view
SGK223 p.A823P 8 8185825 8185825 KMS11_HAEMATOPO... 37 Missense_Mutation SNP C G uc003wsh.3 Hybrid_Cap... view
SLC6A8 X 152957656 152957657 KMS11_HAEMATOPO... 37 Intron Ins - A uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap...
SNX19 p.I170V 11 130785327 130785327 KMS11_HAEMATOPO... 37 Missense_Mutation SNP T C uc001qgk.3 SNX19_uc010sce.... Hybrid_Cap... view
SORL1 11 121500400 121500401 KMS11_HAEMATOPO... 37 3'UTR Ins - A rs73020651 uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap...
SPEG p.P1894T 2 220347865 220347865 KMS11_HAEMATOPO... 37 Missense_Mutation SNP C A uc010fwg.2 Hybrid_Cap... view
STAT5A 17 40462797 40462800 KMS11_HAEMATOPO... 37 3'UTR Del TGTG - uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap...
STK31 7 23872024 23872025 KMS11_HAEMATOPO... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 KMS11_HAEMATOPO... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TLK1 2 171850178 171850179 KMS11_HAEMATOPO... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 KMS11_HAEMATOPO... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP63 3 189507518 189507519 KMS11_HAEMATOPO... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940212 114940212 KMS11_HAEMATOPO... 37 3'UTR Del T - uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRIM36 p.R134* 5 114482990 114482990 KMS11_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc003kqs.2 TRIM36_uc011cwc... Hybrid_Cap... view
TRIM67 p.R560W 1 231339756 231339756 KMS11_HAEMATOPO... 37 Missense_Mutation SNP C T uc009xfn.1 Hybrid_Cap... view
TRIP13 5 908714 908714 KMS11_HAEMATOPO... 37 Intron SNP C T uc003jbr.2 TRIP13_uc010ite... Hybrid_Cap... view
TTN 2 179391639 179391640 KMS11_HAEMATOPO... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.R22436C 2 179435849 179435849 KMS11_HAEMATOPO... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.S1884R 2 179640939 179640939 KMS11_HAEMATOPO... 37 Missense_Mutation SNP G T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 KMS11_HAEMATOPO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK2 p.Q1858R 9 96055209 96055209 KMS11_HAEMATOPO... 37 Missense_Mutation SNP A G uc004ati.1 WNK2_uc011lud.1... Hybrid_Cap... view
ZAK p.G25A 2 173955833 173955833 KMS11_HAEMATOPO... 37 Missense_Mutation SNP G C uc002uhz.2 ZAK_uc002uhx.2_... Hybrid_Cap... view
ZMYM2 p.H508Y 13 20593696 20593696 KMS11_HAEMATOPO... 37 Missense_Mutation SNP C T uc001umr.2 ZMYM2_uc001umq.... Hybrid_Cap... view
ZNF423 p.A319T 16 49672108 49672108 KMS11_HAEMATOPO... 37 Missense_Mutation SNP C T uc002efs.2 ZNF423_uc010vgn... Hybrid_Cap... view