Annotation Summary for Cell Line: MEL-JUSO  

Cell line primary name: MEL-JUSO
Cell line aliases:
Gender: F
Site Primary: skin
Histology: malignant_melanoma
Hist Subtype1: NS
Notes:
Source: DSMZ
Expression arrays: METIS_p_NCLE_RNA1_Human_U133_Plus_2.0_G03_240998
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_H11_246798
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in MEL-JUSO

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 MELJUSO_SKIN 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630245 9630245 MELJUSO_SKIN 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM18 p.G738R 8 39587451 39587451 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc003xni.2 ADAM18_uc010lww... Hybrid_Cap... view
ADAM28 8 24211994 24211997 MELJUSO_SKIN 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS18 p.W670* 16 77359786 77359786 MELJUSO_SKIN 37 Nonsense_Mutation SNP C T uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap... view
ADAMTS2 p.F509S 5 178579246 178579246 MELJUSO_SKIN 37 Missense_Mutation SNP A G uc003mjw.2 ADAMTS2_uc011dg... Hybrid_Cap... view
ADAMTS20 p.G300E 12 43887025 43887025 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc010skx.1 Hybrid_Cap... view
AKAP9 7 91670318 91670319 MELJUSO_SKIN 37 Intron Ins - T rs66490357 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 MELJUSO_SKIN 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ANAPC5 12 121790151 121790151 MELJUSO_SKIN 37 5'UTR SNP C T uc001uag.2 ANAPC5_uc001uah... Hybrid_Cap... view
APC p.P2448S 5 112178633 112178633 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
ARHGAP29 1 94697194 94697194 MELJUSO_SKIN 37 5'UTR SNP G A uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 MELJUSO_SKIN 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ASTN1 p.D673G 1 176918357 176918357 MELJUSO_SKIN 37 Missense_Mutation SNP T C uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
AURKC 19 57742494 57742507 MELJUSO_SKIN 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BAI3 p.E1461K 6 70098595 70098595 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BCL3 19 45262965 45262968 MELJUSO_SKIN 37 3'UTR Del CCCC - uc010xxe.1 Hybrid_Cap...
BRD2 p.E500del 6 32945699 32945701 MELJUSO_SKIN 37 In_Frame_Del Del GAG - uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
BRD2 6 32948598 32948599 MELJUSO_SKIN 37 3'UTR Ins - C rs5875429 uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
BRD4 p.R510Q 19 15367797 15367797 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc002nar.2 BRD4_uc002nas.2... Hybrid_Cap... view
BTG1 12 92537706 92537707 MELJUSO_SKIN 37 3'UTR Ins - TT rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
BTK p.E623D X 100608323 100608323 MELJUSO_SKIN 37 Missense_Mutation SNP T A uc010nno.2 BTK_uc004ehf.2_... Hybrid_Cap... view
CACNB2 10 18828721 18828722 MELJUSO_SKIN 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CCNT1 p.K247* 12 49089580 49089580 MELJUSO_SKIN 37 Nonsense_Mutation SNP T A uc001rse.1 CCNT1_uc009zkz.... Hybrid_Cap... view
CDC42BPG p.P1140L 11 64597491 64597491 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc001obs.3 Hybrid_Cap... view
CDH2 p.S694F 18 25565092 25565092 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc002kwg.2 CDH2_uc010xbn.1... Hybrid_Cap... view
CDK11B 1 1654066 1654068 MELJUSO_SKIN 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK7 5 68573020 68573020 MELJUSO_SKIN 37 3'UTR SNP G A uc003jvs.3 CDK7_uc003jvt.3... Hybrid_Cap... view
CHD8 p.P2066L 14 21859653 21859653 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CHIC2 4 54876132 54876132 MELJUSO_SKIN 37 3'UTR Del C - rs4437313 uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap...
CIITA 16 10971058 10971069 MELJUSO_SKIN 37 5'UTR Del TAGTG... - uc002daj.3 CIITA_uc002dai.... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 MELJUSO_SKIN 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN5 p.P307S 11 99872807 99872807 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc001pga.2 CNTN5_uc009ywv.... Hybrid_Cap... view
COL14A1 p.I305I 8 121215985 121215985 MELJUSO_SKIN 37 Silent SNP C T uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
CPAMD8 p.D381N 19 17108016 17108016 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc002nfb.2 Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 MELJUSO_SKIN 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSMD3 p.Y2216S 8 113353711 113353711 MELJUSO_SKIN 37 Missense_Mutation SNP T G uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CXCL12 10 44873992 44873993 MELJUSO_SKIN 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DDR1 p.D367_splice 6 30860844 30860844 MELJUSO_SKIN 37 Splice_Site_SNP SNP G A uc003nrv.2 DDR1_uc010jse.2... Hybrid_Cap... view
DLL4 p.S224L 15 41224381 41224381 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc001zng.1 Hybrid_Cap... view
DPYD 1 97544465 97544465 MELJUSO_SKIN 37 3'UTR SNP C T uc001drv.2 Hybrid_Cap... view
DST p.L1603F 6 56489349 56489349 MELJUSO_SKIN 37 Missense_Mutation SNP C A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 MELJUSO_SKIN 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EDN1 6 12290850 12290850 MELJUSO_SKIN 37 5'UTR SNP C T uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap... view
EPHA8 p.W545* 1 22921754 22921754 MELJUSO_SKIN 37 Nonsense_Mutation SNP G A uc001bfx.1 Hybrid_Cap... view
ERN2 p.R719S 16 23706138 23706138 MELJUSO_SKIN 37 Missense_Mutation SNP G T uc002dma.3 ERN2_uc010bxp.2... Hybrid_Cap... view
F8 p.S19N X 154250771 154250772 MELJUSO_SKIN 37 Missense_Mutation DNP AC GT uc004fmt.2 F8_uc011mzx.1_I... Hybrid_Cap...
FBN1 p.P1090S 15 48780379 48780379 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc001zwx.1 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 MELJUSO_SKIN 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 MELJUSO_SKIN 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 MELJUSO_SKIN 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT1 13 28903939 28903939 MELJUSO_SKIN 37 Intron SNP C T uc001usb.3 FLT1_uc010aaq.2... Hybrid_Cap... view
FN1 2 216244182 216244185 MELJUSO_SKIN 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GATA2 p.G273R 3 128204624 128204624 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc003ekm.3 GATA2_uc003ekn.... Hybrid_Cap... view
GHR p.A154A 5 42699948 42699948 MELJUSO_SKIN 37 Silent SNP C T uc003jmt.2 GHR_uc011cpq.1_... Hybrid_Cap... view
GHR 5 42719624 42719624 MELJUSO_SKIN 37 3'UTR SNP G A uc003jmt.2 GHR_uc011cpq.1_... Hybrid_Cap... view
GPR112 p.R1086C X 135429121 135429121 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 MELJUSO_SKIN 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 MELJUSO_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2A p.W634* 16 9923386 9923386 MELJUSO_SKIN 37 Nonsense_Mutation SNP C T uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
GRIN2A 16 9856930 9856930 MELJUSO_SKIN 37 3'UTR SNP G A uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
GUCY2C p.V375A 12 14825853 14825853 MELJUSO_SKIN 37 Missense_Mutation SNP A G uc001rcd.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 MELJUSO_SKIN 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC6 p.E597_splice X 48675041 48675041 MELJUSO_SKIN 37 Splice_Site_SNP SNP G A uc011mmi.1 HDAC6_uc004dks.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 MELJUSO_SKIN 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HRAS p.G13D 11 534285 534285 MELJUSO_SKIN 37 Missense_Mutation SNP C T rs104894226 uc001lpv.2 HRAS_uc010qvw.1... Hybrid_Cap... view
IL1RN 2 113885167 113885167 MELJUSO_SKIN 37 Intron SNP G A rs56046326 uc002tiz.2 IL1RN_uc002tix.... Hybrid_Cap... view
ILK 11 6630029 6630029 MELJUSO_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INSR p.P1007S 19 7125533 7125533 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc002mgd.1 INSR_uc002mge.1... Hybrid_Cap... view
ITIH5L p.C548W X 54784863 54784863 MELJUSO_SKIN 37 Missense_Mutation SNP G C uc004dtj.2 Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 MELJUSO_SKIN 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KALRN 3 124237473 124237473 MELJUSO_SKIN 37 Intron SNP C T uc003ehg.2 KALRN_uc010hrv.... Hybrid_Cap... view
KLK3 19 51363181 51363181 MELJUSO_SKIN 37 3'UTR SNP G A uc002pts.1 KLK3_uc010ycj.1... Hybrid_Cap... view
KLK7 19 51480672 51480675 MELJUSO_SKIN 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KSR2 p.P704S 12 117962679 117962679 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc001two.2 Hybrid_Cap... view
LATS2 13 21548993 21548993 MELJUSO_SKIN 37 3'UTR SNP G A uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap... view
LIF 22 30639347 30639347 MELJUSO_SKIN 37 3'UTR SNP G A uc003agz.2 LIF_uc011aks.1_... Hybrid_Cap... view
LMTK3 p.G1111R 19 49001082 49001082 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc002pjk.2 Hybrid_Cap... view
LRP2 p.G1950R 2 170070359 170070359 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc002ues.2 Hybrid_Cap... view
LRRC7 p.R567Q 1 70493873 70493873 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc001dep.2 LRRC7_uc009wbg.... Hybrid_Cap... view
MAF 16 79628537 79628537 MELJUSO_SKIN 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAF 16 79628325 79628325 MELJUSO_SKIN 37 3'UTR Del A - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 MELJUSO_SKIN 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 MELJUSO_SKIN 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K5 p.L383F 15 68061952 68061952 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc002aqu.2 MAP2K5_uc002aqv... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 MELJUSO_SKIN 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K4 p.A1199del 6 161519351 161519353 MELJUSO_SKIN 37 In_Frame_Del Del CTG - uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap...
MAP3K5 6 136878752 136878752 MELJUSO_SKIN 37 3'UTR Del T - rs79903899 uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap...
MAP3K5 p.R256C 6 137019667 137019667 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc003qhc.2 MAP3K5_uc011edk... Hybrid_Cap... view
MAP3K6 p.K1125del 1 27683230 27683232 MELJUSO_SKIN 37 In_Frame_Del Del CTT - uc001bny.1 MAP3K6_uc009vsw... Hybrid_Cap...
MAP3K7 6 91246267 91246267 MELJUSO_SKIN 37 Intron SNP G A rs114677180 uc003pnz.1 MAP3K7_uc003pny... Hybrid_Cap... view
MAP4K4 p.A196T 2 102448260 102448260 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc002tbc.2 MAP4K4_uc002tbd... Hybrid_Cap... view
MAP4K4 p.W258* 2 102452440 102452440 MELJUSO_SKIN 37 Nonsense_Mutation SNP G A uc002tbc.2 MAP4K4_uc002tbd... Hybrid_Cap... view
MAPKBP1 p.S444S 15 42107600 42107600 MELJUSO_SKIN 37 Silent SNP C T uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap... view
MASTL p.I186V 10 27453995 27453995 MELJUSO_SKIN 37 Missense_Mutation SNP A G uc001itm.2 MASTL_uc001itl.... Hybrid_Cap... view
MCF2 p.D258N X 138708447 138708447 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc011mwo.1 MCF2_uc004fau.2... Hybrid_Cap... view
MCF2 p.G12R X 138729054 138729054 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc011mwo.1 MCF2_uc011mwn.1... Hybrid_Cap... view
MCM3APAS 21 47671275 47671276 MELJUSO_SKIN 37 3'UTR Ins - AAT rs67797185 uc002zin.2 MCM3APAS_uc002z... Hybrid_Cap...
MLH1 p.N263N 3 37056034 37056034 MELJUSO_SKIN 37 Silent SNP C T uc003cgl.2 MLH1_uc011aye.1... Hybrid_Cap... view
MLH1 3 37092174 37092176 MELJUSO_SKIN 37 3'UTR Del TTC - uc003cgl.2 MLH1_uc011aye.1... Hybrid_Cap...
MYB p.L298S 6 135515543 135515543 MELJUSO_SKIN 37 Missense_Mutation SNP T C uc003qfh.2 MYB_uc003qfc.2_... Hybrid_Cap... view
MYCN p.E445K 2 16086157 16086157 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc002rci.2 MYCN_uc010yjr.1... Hybrid_Cap... view
MYH1 p.R445C 17 10415239 10415239 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc002gmo.2 Hybrid_Cap... view
MYH1 17 10395688 10395688 MELJUSO_SKIN 37 3'UTR SNP C T uc002gmo.2 Hybrid_Cap... view
MYLK 3 123332875 123332876 MELJUSO_SKIN 37 3'UTR Ins - T rs35930843;rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYLK p.L1350Q 3 123376212 123376212 MELJUSO_SKIN 37 Missense_Mutation SNP A T uc003ego.2 MYLK_uc010hrr.2... Hybrid_Cap... view
MYT1 p.G902S 20 62863545 62863545 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc002yii.2 MYT1_uc002yij.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 MELJUSO_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 MELJUSO_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279864 46279866 MELJUSO_SKIN 37 In_Frame_Del Del CAA - rs1132443;rs28529067 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 MELJUSO_SKIN 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NF1 p.L1779P 17 29654584 29654584 MELJUSO_SKIN 37 Missense_Mutation SNP T C uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NFATC1 18 77287653 77287654 MELJUSO_SKIN 37 3'UTR Del AA - uc010xfg.1 NFATC1_uc002lnd... Hybrid_Cap...
NLRP3 1 247611982 247611982 MELJUSO_SKIN 37 3'UTR Del C - uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap...
NONO p.H106Y X 70511790 70511790 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc004dzo.2 BCYRN1_uc011mpt... Hybrid_Cap... view
NPR1 1 153665919 153665920 MELJUSO_SKIN 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 MELJUSO_SKIN 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR2F1 p.P275L 5 92923983 92923983 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc003kkj.2 Hybrid_Cap... view
NR3C1 5 142780419 142780419 MELJUSO_SKIN 37 Splice_Site_SNP SNP T A uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap... view
NRAS p.Q61L 1 115256529 115256529 MELJUSO_SKIN 37 Missense_Mutation SNP T A rs11554290 uc009wgu.2 Hybrid_Cap... view
NTRK1 p.G595E 1 156846343 156846343 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc001fqh.1 NTRK1_uc001fqf.... Hybrid_Cap... view
NUAK1 p.R599L 12 106460770 106460770 MELJUSO_SKIN 37 Missense_Mutation SNP C A uc001tlj.1 Hybrid_Cap... view
NUP214 p.A1088V 9 134050952 134050952 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
NUP214 9 134067556 134067557 MELJUSO_SKIN 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
ODZ1 p.G1408R X 123556371 123556371 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
OR2L13 p.R233K 1 248263375 248263375 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc001ids.2 Hybrid_Cap... view
PAX3 2 223158653 223158653 MELJUSO_SKIN 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.P1453S 1 144879093 144879093 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFRA p.M1073I 4 55161388 55161388 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc003han.3 PDGFRA_uc003haa... Hybrid_Cap... view
PDGFRB p.P774L 5 149501466 149501466 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc003lro.2 PDGFRB_uc010jhd... Hybrid_Cap... view
PI4K2B p.Y268* 4 25260706 25260706 MELJUSO_SKIN 37 Nonsense_Mutation SNP T G uc003grk.2 PI4K2B_uc011bxs... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 MELJUSO_SKIN 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3CG 7 106545889 106545889 MELJUSO_SKIN 37 3'UTR SNP A T uc003vdv.3 PIK3CG_uc003vdu... Hybrid_Cap... view
PKN1 p.F623F 19 14578572 14578572 MELJUSO_SKIN 37 Silent SNP C T uc002myq.2 PKN1_uc002myp.2... Hybrid_Cap... view
POU2AF1 p.D219N 11 111225102 111225102 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc001plg.3 Hybrid_Cap... view
PPP1R3A p.E271D 7 113522345 113522345 MELJUSO_SKIN 37 Missense_Mutation SNP T A uc010ljy.1 Hybrid_Cap... view
PRKACA p.N341T 19 14203958 14203958 MELJUSO_SKIN 37 Missense_Mutation SNP T G uc002myc.2 SAMD1_uc010xnl.... Hybrid_Cap... view
PRKCH 14 61788636 61788636 MELJUSO_SKIN 37 5'UTR SNP A G uc001xfn.2 PRKCH_uc010tsa.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 MELJUSO_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPN22 p.P535S 1 114380419 114380419 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc001eds.2 PTPN22_uc009wgq... Hybrid_Cap... view
PTPRC 1 198672636 198672636 MELJUSO_SKIN 37 Intron SNP G A uc001gur.1 PTPRC_uc001gus.... Hybrid_Cap... view
PXDN p.R281Q 2 1680705 1680705 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc002qxa.2 PXDN_uc002qxb.1... Hybrid_Cap... view
RANBP17 5 170669871 170669871 MELJUSO_SKIN 37 Intron SNP G A uc003mba.2 RANBP17_uc003mb... Hybrid_Cap... view
RARG 12 53607267 53607267 MELJUSO_SKIN 37 Intron SNP G A uc001sce.2 RARG_uc001scd.2... Hybrid_Cap... view
RASGRF1 15 79277150 79277151 MELJUSO_SKIN 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 MELJUSO_SKIN 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RET p.S765F 10 43613830 43613830 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc001jal.2 RET_uc001jak.1_... Hybrid_Cap... view
RGS22 8 101117815 101117815 MELJUSO_SKIN 37 Intron SNP G A uc003yjb.1 RGS22_uc003yja.... Hybrid_Cap... view
RIMS2 p.S289L 8 104898359 104898359 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc003yls.2 RIMS2_uc003ylp.... Hybrid_Cap... view
ROBO2 p.S1214F 3 77671452 77671452 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 MELJUSO_SKIN 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SEPT6 X 118752585 118752585 MELJUSO_SKIN 37 3'UTR SNP G A uc004erv.2 SEPT6_uc010nqk.... Hybrid_Cap... view
SLC45A3 1 205628283 205628283 MELJUSO_SKIN 37 3'UTR SNP G A uc001hda.1 SLC45A3_uc010pr... Hybrid_Cap... view
SORL1 p.M1279I 11 121458751 121458751 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap... view
SORL1 p.I1687_splice 11 121477667 121477668 MELJUSO_SKIN 37 Splice_Site_Ins Ins - TT uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap...
SOX10 22 38369434 38369434 MELJUSO_SKIN 37 3'UTR SNP G A uc003aun.1 POLR2F_uc003aum... Hybrid_Cap... view
SPEG p.S713S 2 220315883 220315883 MELJUSO_SKIN 37 Silent SNP C G uc010fwg.2 SPEG_uc002vlm.2... Hybrid_Cap... view
STAC2 p.A215fs 17 37371427 37371427 MELJUSO_SKIN 37 Frame_Shift_Del Del C - uc002hrs.2 STAC2_uc010cvt.... Hybrid_Cap...
STARD3 17 37819369 37819369 MELJUSO_SKIN 37 3'UTR SNP G A uc002hsd.2 STARD3_uc010weh... Hybrid_Cap... view
STAT1 2 191840353 191840353 MELJUSO_SKIN 37 Intron Del T - uc002usj.2 STAT1_uc010fse.... Hybrid_Cap...
TCL6 14 96131332 96131332 MELJUSO_SKIN 37 Intron SNP C T uc001yeq.2 TCL6_uc001yep.1... Hybrid_Cap... view
TFPT p.R170K 19 54611466 54611466 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc010yej.1 Hybrid_Cap... view
TG p.P2105L 8 134024197 134024197 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc003ytw.2 TG_uc010mdw.2_M... Hybrid_Cap... view
TGS1 8 56685982 56685983 MELJUSO_SKIN 37 5'UTR DNP CC TT uc003xsj.3 TMEM68_uc003xsh... Hybrid_Cap...
TLK1 2 171850178 171850179 MELJUSO_SKIN 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TLR7 p.G258R X 12904399 12904399 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc004cvc.2 Hybrid_Cap... view
TMEM123 11 102269398 102269398 MELJUSO_SKIN 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMEM123 11 102269461 102269461 MELJUSO_SKIN 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNFRSF11B 8 119936541 119936541 MELJUSO_SKIN 37 3'UTR SNP T C uc003yon.3 Hybrid_Cap... view
TNIK 3 170781556 170781556 MELJUSO_SKIN 37 3'UTR SNP G A uc003fhh.2 TNIK_uc003fhi.2... Hybrid_Cap... view
TNIK 3 170819600 170819600 MELJUSO_SKIN 37 Intron SNP A G uc003fhh.2 TNIK_uc003fhi.2... Hybrid_Cap... view
TNN p.E663K 1 175067599 175067599 MELJUSO_SKIN 37 Missense_Mutation SNP G A uc001gkl.1 TNN_uc010pmx.1_... Hybrid_Cap... view
TOX 8 59720148 59720148 MELJUSO_SKIN 37 3'UTR SNP T A uc003xtw.1 Hybrid_Cap... view
TPPP p.D87H 5 677917 677917 MELJUSO_SKIN 37 Missense_Mutation SNP C G uc003jbg.3 TPPP_uc003jbh.3... Hybrid_Cap... view
TRPM6 p.E1893K 9 77353422 77353422 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TRPS1 8 116635872 116635873 MELJUSO_SKIN 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN p.E30896K 2 179401084 179401084 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R25543I 2 179426527 179426527 MELJUSO_SKIN 37 Missense_Mutation SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN 2 179611813 179611813 MELJUSO_SKIN 37 Intron SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UNC13C p.P162S 15 54305584 54305584 MELJUSO_SKIN 37 Missense_Mutation SNP C T uc002ack.2 Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 MELJUSO_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
YAP1 11 102100787 102100787 MELJUSO_SKIN 37 3'UTR SNP G A uc001pgt.2 YAP1_uc001pgs.2... Hybrid_Cap... view
YES1 18 724243 724243 MELJUSO_SKIN 37 3'UTR SNP G T uc002kky.2 YES1_uc002kkz.2... Hybrid_Cap... view