Annotation Summary for Cell Line: CAL-78  

Cell line primary name: CAL-78
Cell line aliases:
Gender: M
Site Primary: bone
Histology: chondrosarcoma
Hist Subtype1: dedifferentiated
Notes:
Source: DSMZ
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_H04_523550
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_G02_490488
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in CAL-78

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 CAL78_BONE 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 CAL78_BONE 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 CAL78_BONE 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.L251R 7 91624936 91624936 CAL78_BONE 37 Missense_Mutation SNP T G uc003ulg.2 AKAP9_uc003uld.... Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 CAL78_BONE 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AURKC 19 57742494 57742507 CAL78_BONE 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCR 22 23632777 23632778 CAL78_BONE 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
CCR5 p.S63C 3 46414580 46414580 CAL78_BONE 37 Missense_Mutation SNP A T uc003cpo.3 CCR5_uc010hjd.2... Hybrid_Cap... view
CDK18 1 205492428 205492428 CAL78_BONE 37 Intron SNP G C uc001hcr.2 CDK18_uc009xbk.... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 CAL78_BONE 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 22 19183932 19183932 CAL78_BONE 37 Intron SNP C G uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 CAL78_BONE 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
DPYD p.C29Y 1 98348884 98348884 CAL78_BONE 37 Missense_Mutation SNP C T uc001drv.2 DPYD_uc010oub.1... Hybrid_Cap... view
DRD2 p.R227H 11 113286186 113286186 CAL78_BONE 37 Missense_Mutation SNP C T uc001pnz.2 DRD2_uc010rwv.1... Hybrid_Cap... view
DST p.Q2665R 6 56425181 56425181 CAL78_BONE 37 Missense_Mutation SNP T C uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 CAL78_BONE 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EDN1 6 12290729 12290729 CAL78_BONE 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EIF2B5 p.W317C 3 183858313 183858313 CAL78_BONE 37 Missense_Mutation SNP G T uc003fmp.2 EIF2B5_uc003fmq... Hybrid_Cap... view
EP300 22 41574970 41574972 CAL78_BONE 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97367230 97367231 CAL78_BONE 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA6 3 97467610 97467611 CAL78_BONE 37 3'UTR Ins - CT uc010how.1 Hybrid_Cap...
EPS15 p.I174T 1 51926803 51926803 CAL78_BONE 37 Missense_Mutation SNP A G uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap... view
EXT1 8 118811807 118811807 CAL78_BONE 37 3'UTR Del T - uc003yok.1 Hybrid_Cap...
FGFR1OP 6 167453519 167453520 CAL78_BONE 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 CAL78_BONE 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 p.Q1282H 1 240371946 240371946 CAL78_BONE 37 Missense_Mutation SNP G C uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap... view
FN1 2 216244182 216244185 CAL78_BONE 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FSCB p.A410fs 14 44974961 44974962 CAL78_BONE 37 Frame_Shift_Ins Ins - T uc001wvn.2 Hybrid_Cap...
FYN 6 111982766 111982766 CAL78_BONE 37 3'UTR SNP G A uc003pvj.2 FYN_uc003pvi.2_... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 CAL78_BONE 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 CAL78_BONE 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 CAL78_BONE 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
ILK 11 6630029 6630029 CAL78_BONE 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB1 p.R676L 10 33199288 33199288 CAL78_BONE 37 Missense_Mutation SNP C A uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 CAL78_BONE 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIAA1409 p.Y825C 14 94053227 94053227 CAL78_BONE 37 Missense_Mutation SNP A G uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap... view
LATS2 13 21620222 21620223 CAL78_BONE 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LRGUK p.K257R 7 133842887 133842887 CAL78_BONE 37 Missense_Mutation SNP A G uc003vrm.1 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 CAL78_BONE 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K5 15 67951229 67951229 CAL78_BONE 37 Intron Del A - uc002aqu.2 MAP2K5_uc002aqt... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 CAL78_BONE 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 CAL78_BONE 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKBP1 p.R752W 15 42111100 42111100 CAL78_BONE 37 Missense_Mutation SNP C T rs61729964 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap... view
MCM3APAS 21 47671275 47671276 CAL78_BONE 37 3'UTR Ins - AAT rs67797185 uc002zin.2 MCM3APAS_uc002z... Hybrid_Cap...
MECOM p.P63R 3 169099162 169099162 CAL78_BONE 37 Missense_Mutation SNP G C uc011bpj.1 MECOM_uc003ffl.... Hybrid_Cap... view
MKNK1 1 47023951 47023951 CAL78_BONE 37 3'UTR SNP C G uc001cqb.2 MKNK1_uc010omd.... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 CAL78_BONE 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MTUS2 p.E1224K 13 30071435 30071435 CAL78_BONE 37 Missense_Mutation SNP G A uc001usl.3 MTUS2_uc001usm.... Hybrid_Cap... view
MYST3 8 41789664 41789664 CAL78_BONE 37 3'UTR SNP A G uc010lxb.2 MYST3_uc010lxc.... Hybrid_Cap... view
NBN p.K613E 8 90965480 90965480 CAL78_BONE 37 Missense_Mutation SNP T C uc003yej.1 NBN_uc003yei.1_... Hybrid_Cap... view
NCAM1 11 112832307 112832308 CAL78_BONE 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 CAL78_BONE 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.QQQ1272del 20 46279815 46279823 CAL78_BONE 37 In_Frame_Del Del GCAGC... - uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK5 p.P223A 13 52676371 52676371 CAL78_BONE 37 Missense_Mutation SNP G C uc001vge.2 NEK5_uc001vgf.2... Hybrid_Cap... view
NFIA 1 61921185 61921186 CAL78_BONE 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NIN p.T1558M 14 51221342 51221342 CAL78_BONE 37 Missense_Mutation SNP G A uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap... view
NOTCH2 p.A439T 1 120510194 120510194 CAL78_BONE 37 Missense_Mutation SNP C T uc001eik.2 NOTCH2_uc001eil... Hybrid_Cap... view
NPM1 5 170837734 170837734 CAL78_BONE 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 CAL78_BONE 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR2F1 5 92929657 92929657 CAL78_BONE 37 3'UTR SNP G T uc003kkj.2 Hybrid_Cap... view
ODZ1 p.P294A X 123838998 123838998 CAL78_BONE 37 Missense_Mutation SNP G C uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
PCM1 p.Q1864R 8 17872099 17872099 CAL78_BONE 37 Missense_Mutation SNP A G uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap... view
PDE4DIP 1 144863860 144863861 CAL78_BONE 37 Intron Ins - T rs33949841 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 CAL78_BONE 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 CAL78_BONE 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRA 4 55131002 55131002 CAL78_BONE 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PGR p.H888Y 11 100909987 100909987 CAL78_BONE 37 Missense_Mutation SNP G A uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 CAL78_BONE 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3CG p.D946N 7 106524675 106524675 CAL78_BONE 37 Missense_Mutation SNP G A uc003vdv.3 PIK3CG_uc003vdu... Hybrid_Cap... view
PKN2 1 89271774 89271774 CAL78_BONE 37 Intron SNP G C uc001dmn.2 PKN2_uc001dmm.1... Hybrid_Cap... view
PLCG2 16 81954996 81954997 CAL78_BONE 37 Intron Ins - T uc002fgt.2 PLCG2_uc010chg.... Hybrid_Cap...
PLD1 p.K1000_splice 3 171323087 171323087 CAL78_BONE 37 Splice_Site_SNP SNP A T uc003fhs.2 PLD1_uc003fht.2... Hybrid_Cap... view
PRAME 22 22899323 22899323 CAL78_BONE 37 De_novo_Start_OutOfFrame SNP C T uc002zwf.2 LOC96610_uc011a... Hybrid_Cap... view
PRKD3 2 37480319 37480320 CAL78_BONE 37 Stop_Codon_Ins Ins - T rs79875666 uc002rqd.2 Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 CAL78_BONE 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
ROCK1 p.P1321L 18 18533638 18533638 CAL78_BONE 37 Missense_Mutation SNP G A uc002kte.2 Hybrid_Cap... view
RPS6KA1 p.L338I 1 26883492 26883492 CAL78_BONE 37 Missense_Mutation SNP C A uc001bms.1 RPS6KA1_uc001bm... Hybrid_Cap... view
RPS6KC1 p.E256D 1 213303165 213303165 CAL78_BONE 37 Missense_Mutation SNP A C uc010ptr.1 RPS6KC1_uc001hk... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 CAL78_BONE 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SCYL3 p.T268A 1 169836050 169836050 CAL78_BONE 37 Missense_Mutation SNP T C uc001ggs.2 SCYL3_uc010plw.... Hybrid_Cap... view
SETDB1 1 150936940 150936940 CAL78_BONE 37 3'UTR SNP T C uc001evu.2 SETDB1_uc001evv... Hybrid_Cap... view
SOX2 3 181431226 181431227 CAL78_BONE 37 3'UTR Ins - A rs80135245 uc003fkx.2 SOX2OT_uc003fkv... Hybrid_Cap...
STK31 7 23872024 23872025 CAL78_BONE 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 CAL78_BONE 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB2 1 218519928 218519929 CAL78_BONE 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TP53 p.EE286del 17 7577077 7577082 CAL78_BONE 37 In_Frame_Del Del CTCTT... - uc002gim.2 TP53_uc002gig.1... Hybrid_Cap...
TRIM33 1 114940215 114940216 CAL78_BONE 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TTN 2 179391639 179391640 CAL78_BONE 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.W13903C 2 179478597 179478597 CAL78_BONE 37 Missense_Mutation SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 CAL78_BONE 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZNF217 p.K844R 20 52192772 52192772 CAL78_BONE 37 Missense_Mutation SNP T C uc002xwq.3 ZNF217_uc010gij... Hybrid_Cap... view