Annotation Summary for Cell Line: GRANTA-519  

Cell line primary name: GRANTA-519
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: mantle_cell_lymphoma
Notes:
Source: DSMZ
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_A06_523556
SNP arrays: AWASH_p_NCLE_DNAAffy10_GenomeWideSNP_6_G07_542862
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in GRANTA-519

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 GRANTA519_HAEMA... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630245 9630245 GRANTA519_HAEMA... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 GRANTA519_HAEMA... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 GRANTA519_HAEMA... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 GRANTA519_HAEMA... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 GRANTA519_HAEMA... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ANAPC5 p.W29R 12 121790059 121790059 GRANTA519_HAEMA... 37 Missense_Mutation SNP A T uc001uag.2 ANAPC5_uc001uah... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 GRANTA519_HAEMA... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ATM p.S974_splice 11 108141976 108141976 GRANTA519_HAEMA... 37 Splice_Site_SNP SNP A T uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
ATM p.R2832C 11 108216545 108216545 GRANTA519_HAEMA... 37 Missense_Mutation SNP C T uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
BTG1 12 92537706 92537707 GRANTA519_HAEMA... 37 3'UTR Ins - TT rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CABC1 1 227171736 227171737 GRANTA519_HAEMA... 37 Intron Ins - T rs1574184 uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNB2 10 18828721 18828722 GRANTA519_HAEMA... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CASP1 11 104896953 104896953 GRANTA519_HAEMA... 37 3'UTR SNP C G uc010rve.1 CASP1_uc001pig.... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 GRANTA519_HAEMA... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 GRANTA519_HAEMA... 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 GRANTA519_HAEMA... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CUBN p.G596C 10 17130324 17130324 GRANTA519_HAEMA... 37 Missense_Mutation SNP C A uc001ioo.2 Hybrid_Cap... view
EP300 22 41574970 41574972 GRANTA519_HAEMA... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA4 p.N423K 2 222347121 222347121 GRANTA519_HAEMA... 37 Missense_Mutation SNP G T uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap... view
ETV1 7 14028708 14028708 GRANTA519_HAEMA... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 GRANTA519_HAEMA... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 GRANTA519_HAEMA... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 GRANTA519_HAEMA... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT4 5 180035183 180035185 GRANTA519_HAEMA... 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FN1 2 216244182 216244185 GRANTA519_HAEMA... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 GRANTA519_HAEMA... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 GRANTA519_HAEMA... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRK7 p.N13S 3 141497164 141497164 GRANTA519_HAEMA... 37 Missense_Mutation SNP A G uc011bnd.1 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 GRANTA519_HAEMA... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1A 12 121434630 121434631 GRANTA519_HAEMA... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 GRANTA519_HAEMA... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 GRANTA519_HAEMA... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
KLK7 19 51480672 51480675 GRANTA519_HAEMA... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LMTK3 19 48988845 48988845 GRANTA519_HAEMA... 37 3'UTR SNP G A uc002pjk.2 Hybrid_Cap... view
MAMDC4 p.A370fs 9 139749473 139749474 GRANTA519_HAEMA... 37 Frame_Shift_Ins Ins - C uc004cjs.2 MAMDC4_uc011mej... Hybrid_Cap...
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 GRANTA519_HAEMA... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 GRANTA519_HAEMA... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 GRANTA519_HAEMA... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 GRANTA519_HAEMA... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKBP1 15 42111753 42111754 GRANTA519_HAEMA... 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MDM4 p.D375C 1 204518460 204518461 GRANTA519_HAEMA... 37 Missense_Mutation DNP GA TG uc001hba.2 MDM4_uc001hbd.1... Hybrid_Cap...
MGC42105 5 43245729 43245729 GRANTA519_HAEMA... 37 5'UTR SNP C A uc003jno.2 Hybrid_Cap... view
MMP1 p.I191fs 11 102667447 102667447 GRANTA519_HAEMA... 37 Frame_Shift_Del Del A - uc001phi.2 MMP1_uc010ruv.1... Hybrid_Cap...
MOS p.R246C 8 57025806 57025806 GRANTA519_HAEMA... 37 Missense_Mutation SNP G A uc011leb.1 Hybrid_Cap... view
MST1R p.V323fs 3 49940076 49940076 GRANTA519_HAEMA... 37 Frame_Shift_Del Del C - uc003cxy.3 MST1R_uc011bdd.... Hybrid_Cap...
MYLK 3 123332875 123332876 GRANTA519_HAEMA... 37 3'UTR Ins - T rs35930843;rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
NCAM1 11 112832307 112832308 GRANTA519_HAEMA... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 GRANTA519_HAEMA... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 GRANTA519_HAEMA... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 GRANTA519_HAEMA... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NOV 8 120435417 120435417 GRANTA519_HAEMA... 37 3'UTR SNP C T uc003yoq.2 Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 GRANTA519_HAEMA... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR3C1 5 142780419 142780419 GRANTA519_HAEMA... 37 Splice_Site_SNP SNP T A uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap... view
PAX3 2 223158653 223158653 GRANTA519_HAEMA... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 GRANTA519_HAEMA... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 GRANTA519_HAEMA... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PHOX2B p.M21L 4 41750567 41750567 GRANTA519_HAEMA... 37 Missense_Mutation SNP T A uc003gwf.3 Hybrid_Cap... view
PRKCD p.D202N 3 53217169 53217169 GRANTA519_HAEMA... 37 Missense_Mutation SNP G A uc003dgl.2 PRKCD_uc003dgm.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 GRANTA519_HAEMA... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPRU p.R635W 1 29609222 29609222 GRANTA519_HAEMA... 37 Missense_Mutation SNP C T uc001bru.2 PTPRU_uc001brv.... Hybrid_Cap... view
PTPRU p.R1343H 1 29650186 29650186 GRANTA519_HAEMA... 37 Missense_Mutation SNP G A uc001bru.2 PTPRU_uc001brv.... Hybrid_Cap... view
RAD50 p.H68H 5 131895050 131895050 GRANTA519_HAEMA... 37 Silent SNP C T rs28903084 uc003kxi.2 RAD50_uc003kxg.... Hybrid_Cap... view
RECQL4 p.S1031N 8 145737671 145737671 GRANTA519_HAEMA... 37 Missense_Mutation SNP C T uc003zdj.2 Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 GRANTA519_HAEMA... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KA5 14 91360733 91360734 GRANTA519_HAEMA... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
TEC 4 48139307 48139310 GRANTA519_HAEMA... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TNRC6B p.P76L 22 40657947 40657947 GRANTA519_HAEMA... 37 Missense_Mutation SNP C T uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap... view
TP63 3 189590798 189590798 GRANTA519_HAEMA... 37 Intron SNP C T uc003fry.2 TP63_uc003frx.2... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 GRANTA519_HAEMA... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...