Annotation Summary for Cell Line: MEL-HO  

Cell line primary name: MEL-HO
Cell line aliases:
Gender: F
Site Primary: skin
Histology: malignant_melanoma
Hist Subtype1: NS
Notes:
Source: DSMZ
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_A06_296000
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_H07_246790
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in MEL-HO

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ACACA 17 35766564 35766564 MELHO_SKIN 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM28 8 24211994 24211997 MELHO_SKIN 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM29 p.L691del 4 175898744 175898746 MELHO_SKIN 37 In_Frame_Del Del TTA - uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap...
ADK p.E260D 10 76360154 76360154 MELHO_SKIN 37 Missense_Mutation SNP G C uc001jwi.2 ADK_uc010qlb.1_... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 MELHO_SKIN 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 MELHO_SKIN 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 MELHO_SKIN 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ARAF X 47431012 47431012 MELHO_SKIN 37 3'UTR SNP C A uc011mlq.1 Hybrid_Cap... view
ARNT p.N395K 1 150799076 150799076 MELHO_SKIN 37 Missense_Mutation SNP A T uc001evr.1 ARNT_uc001evs.1... Hybrid_Cap... view
ATP11A p.R147_splice 13 113465042 113465042 MELHO_SKIN 37 Splice_Site_SNP SNP T C uc001vsj.3 ATP11A_uc001vsi... Hybrid_Cap... view
BAI3 p.E1273K 6 70070982 70070982 MELHO_SKIN 37 Missense_Mutation SNP G A uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BRAF p.V600E 7 140453136 140453136 MELHO_SKIN 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
BRD2 6 32948607 32948608 MELHO_SKIN 37 3'UTR Ins - T rs1049414;rs114195059 uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
CASP4 11 104819546 104819547 MELHO_SKIN 37 Intron Ins - AGACACAC rs33910737;rs113139978 uc001pid.1 CASP4_uc001pib.... Hybrid_Cap...
CHRNA5 p.P238L 15 78882446 78882446 MELHO_SKIN 37 Missense_Mutation SNP C T rs61742337 uc002bdy.2 CHRNA5_uc002bdz... Hybrid_Cap... view
CIT 12 120125896 120125896 MELHO_SKIN 37 3'UTR SNP C T uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 MELHO_SKIN 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL18A1 p.P266S 21 46876240 46876240 MELHO_SKIN 37 Missense_Mutation SNP C T uc011afs.1 COL18A1_uc002zh... Hybrid_Cap... view
COL3A1 p.P700L 2 189864087 189864087 MELHO_SKIN 37 Missense_Mutation SNP C T uc002uqj.1 Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 MELHO_SKIN 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
DNAH8 p.E3671K 6 38905848 38905848 MELHO_SKIN 37 Missense_Mutation SNP G A uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap... view
EDN1 6 12290729 12290729 MELHO_SKIN 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EIF4A1 p.D164V 17 7479987 7479987 MELHO_SKIN 37 Missense_Mutation SNP A T uc002gho.1 EIF4A1_uc002ghr... Hybrid_Cap... view
ELF4 p.T418I X 129201435 129201435 MELHO_SKIN 37 Missense_Mutation SNP G A uc004evd.3 ELF4_uc004eve.3... Hybrid_Cap... view
EPHA6 3 97367230 97367231 MELHO_SKIN 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA6 3 97467610 97467611 MELHO_SKIN 37 3'UTR Ins - CT uc010how.1 Hybrid_Cap...
ERBB2 p.A115A 17 37864693 37864693 MELHO_SKIN 37 Silent SNP C T uc002hso.2 ERBB2_uc002hsm.... Hybrid_Cap... view
FAM118A 22 45736547 45736547 MELHO_SKIN 37 3'UTR SNP C T uc003bfz.3 FAM118A_uc003bg... Hybrid_Cap... view
FGFR3 4 1809128 1809129 MELHO_SKIN 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 MELHO_SKIN 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT4 5 180035183 180035185 MELHO_SKIN 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 MELHO_SKIN 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 MELHO_SKIN 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FYN 6 111982759 111982759 MELHO_SKIN 37 3'UTR SNP G A uc003pvj.2 FYN_uc003pvi.2_... Hybrid_Cap... view
GRIA3 X 122318386 122318387 MELHO_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 MELHO_SKIN 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1A 12 121434630 121434631 MELHO_SKIN 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 MELHO_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRAK1 p.R366C X 153282028 153282028 MELHO_SKIN 37 Missense_Mutation SNP G A uc004fjs.1 IRAK1_uc004fjr.... Hybrid_Cap... view
KLK7 19 51480672 51480675 MELHO_SKIN 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LIMK1 p.P581L 7 73535340 73535340 MELHO_SKIN 37 Missense_Mutation SNP C T uc003uaa.1 RFC2_uc011kfa.1... Hybrid_Cap... view
MAML2 p.S27L 11 96074980 96074980 MELHO_SKIN 37 Missense_Mutation SNP G A uc001pfw.1 Hybrid_Cap... view
MAML2 11 96075067 96075067 MELHO_SKIN 37 5'UTR SNP G T uc001pfw.1 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 MELHO_SKIN 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K4 p.I395S 17 12044528 12044528 MELHO_SKIN 37 Missense_Mutation SNP T G uc002gnk.2 MAP2K4_uc002gnj... Hybrid_Cap... view
MAP3K13 p.K804E 3 185191529 185191529 MELHO_SKIN 37 Missense_Mutation SNP A G uc010hyf.2 MAP3K13_uc011br... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 MELHO_SKIN 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K4 6 161522893 161522893 MELHO_SKIN 37 Intron SNP G C uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 MELHO_SKIN 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 15 42111753 42111754 MELHO_SKIN 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MARK2 p.R445Q 11 63670172 63670173 MELHO_SKIN 37 Missense_Mutation DNP GG AA uc001nxw.2 MARK2_uc001nxx.... Hybrid_Cap...
MARS 12 57910431 57910431 MELHO_SKIN 37 3'UTR SNP A G uc001sog.2 MARS_uc001sof.1... Hybrid_Cap... view
MECOM p.K430T 3 168834371 168834371 MELHO_SKIN 37 Missense_Mutation SNP T G uc011bpj.1 MECOM_uc010hwk.... Hybrid_Cap... view
MECOM p.G429D 3 168834374 168834374 MELHO_SKIN 37 Missense_Mutation SNP C T uc011bpj.1 MECOM_uc010hwk.... Hybrid_Cap... view
MLLT3 p.156_157SS>S 9 20414374 20414376 MELHO_SKIN 37 In_Frame_Del Del CTA - rs1761445 uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MYO3B p.V679I 2 171258107 171258107 MELHO_SKIN 37 Missense_Mutation SNP G A uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 MELHO_SKIN 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
MYST4 10 76790935 76790936 MELHO_SKIN 37 3'UTR Ins - A rs3832681 uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap...
MYT1 p.A567V 20 62848488 62848488 MELHO_SKIN 37 Missense_Mutation SNP C T uc002yii.2 MYT1_uc002yih.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 MELHO_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 MELHO_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 MELHO_SKIN 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NIPBL 5 37064185 37064185 MELHO_SKIN 37 Intron SNP C T uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 MELHO_SKIN 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OBSCN p.E4670* 1 228505751 228505751 MELHO_SKIN 37 Nonsense_Mutation SNP G T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PAX3 2 223158653 223158653 MELHO_SKIN 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 MELHO_SKIN 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 MELHO_SKIN 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRA 4 55131002 55131002 MELHO_SKIN 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PDK4 7 95221928 95221928 MELHO_SKIN 37 Intron Del A - uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 MELHO_SKIN 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C2G 12 18800990 18800990 MELHO_SKIN 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
POU2AF1 11 111250016 111250016 MELHO_SKIN 37 5'UTR SNP C G uc001plg.3 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 MELHO_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSIP1 p.S94T 9 15489991 15489991 MELHO_SKIN 37 Missense_Mutation SNP C G uc003zlv.3 PSIP1_uc003zlw.... Hybrid_Cap... view
PTEN p.A151P 10 89692967 89692967 MELHO_SKIN 37 Missense_Mutation SNP G C uc001kfb.2 Hybrid_Cap... view
RBL1 p.A11E 20 35724300 35724300 MELHO_SKIN 37 Missense_Mutation SNP G T uc002xgi.2 RBL1_uc010zvt.1... Hybrid_Cap... view
RBPJ p.R238* 4 26426291 26426291 MELHO_SKIN 37 Nonsense_Mutation SNP C T rs5007634 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RIPK3 p.E428D 14 24806143 24806143 MELHO_SKIN 37 Missense_Mutation SNP C G uc001wpb.2 ADCY4_uc001wov.... Hybrid_Cap... view
ROS1 p.P182L 6 117724334 117724334 MELHO_SKIN 37 Missense_Mutation SNP G A uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 MELHO_SKIN 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 MELHO_SKIN 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
STK31 p.F795L 7 23826235 23826235 MELHO_SKIN 37 Missense_Mutation SNP T C uc003sws.3 STK31_uc003swt.... Hybrid_Cap... view
STYK1 p.M192V 12 10782151 10782151 MELHO_SKIN 37 Missense_Mutation SNP T C uc001qys.2 Hybrid_Cap... view
TNK2 p.G551fs 3 195597064 195597065 MELHO_SKIN 37 Frame_Shift_Ins Ins - C uc003fvt.1 TNK2_uc003fvq.1... Hybrid_Cap...
TP63 3 189507518 189507519 MELHO_SKIN 37 Intron Ins - AG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPM7 15 50897031 50897031 MELHO_SKIN 37 Intron SNP C T uc001zyt.3 TRPM7_uc010bew.... Hybrid_Cap... view
TTN 2 179391639 179391640 MELHO_SKIN 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.W12584R 2 179485991 179485991 MELHO_SKIN 37 Missense_Mutation SNP A T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UNC13C p.P795S 15 54307483 54307483 MELHO_SKIN 37 Missense_Mutation SNP C T uc002ack.2 Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 MELHO_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WDHD1 p.G252C 14 55467650 55467650 MELHO_SKIN 37 Missense_Mutation SNP C A uc001xbm.1 WDHD1_uc001xbn.... Hybrid_Cap... view