Annotation Summary for Cell Line: CHL-1  

Cell line primary name: CHL-1
Cell line aliases:
Gender:
Site Primary: skin
Histology: malignant_melanoma
Hist Subtype1: NS
Notes: Identical lines: COLO-699, CHL-1 and HMCB share high SNP identity and are likely to be melanoma
Source: ATCC
Expression arrays: METIS_p_NCLE_RNA1_Human_U133_Plus_2.0_D08_240936
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_F11_246750
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in CHL-1

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 CHL1_SKIN 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACA 17 35766564 35766564 CHL1_SKIN 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM17 2 9630245 9630245 CHL1_SKIN 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 CHL1_SKIN 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADRBK2 p.A260V 22 26081168 26081168 CHL1_SKIN 37 Missense_Mutation SNP C T uc003abx.3 ADRBK2_uc010gux... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 CHL1_SKIN 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 CHL1_SKIN 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKT1 p.Q59* 14 105246425 105246425 CHL1_SKIN 37 Nonsense_Mutation SNP G A uc001ypk.2 INF2_uc010tyi.1... Hybrid_Cap... view
ALPK2 p.1388_1389FF>F 18 56203253 56203255 CHL1_SKIN 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ARHGEF7 p.P642S 13 111953130 111953130 CHL1_SKIN 37 Missense_Mutation SNP C T uc010tjo.1 ARHGEF7_uc001vr... Hybrid_Cap... view
BCR p.R442R 22 23596032 23596032 CHL1_SKIN 37 Silent SNP G A uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap... view
BCR 22 23631813 23631814 CHL1_SKIN 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BIRC6 p.P1367S 2 32667287 32667287 CHL1_SKIN 37 Missense_Mutation SNP C T uc010ezu.2 Hybrid_Cap... view
BRCA2 p.G3212E 13 32971168 32971168 CHL1_SKIN 37 Missense_Mutation SNP G A uc001uub.1 Hybrid_Cap... view
C9ORF96 p.Q359* 9 136263176 136263176 CHL1_SKIN 37 Nonsense_Mutation SNP C T uc004cdk.2 C9orf96_uc004cd... Hybrid_Cap... view
CACNB2 10 18828721 18828722 CHL1_SKIN 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CD40 p.I198I 20 44756811 44756811 CHL1_SKIN 37 Silent SNP C T uc002xrg.1 CD40_uc002xrh.1... Hybrid_Cap... view
CDK11B 1 1654066 1654068 CHL1_SKIN 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK14 p.P124L 7 90376997 90376997 CHL1_SKIN 37 Missense_Mutation SNP C T uc003uky.2 CDK14_uc003ukt.... Hybrid_Cap... view
CDKL2 p.V83I 4 76539555 76539555 CHL1_SKIN 37 Missense_Mutation SNP C T uc011cbp.1 CDKL2_uc003hiq.... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 CHL1_SKIN 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD9 16 53358853 53358853 CHL1_SKIN 37 3'UTR SNP C T uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CIC p.K466N 19 42794037 42794037 CHL1_SKIN 37 Missense_Mutation SNP G C uc002otf.1 Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 CHL1_SKIN 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 CHL1_SKIN 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNBP p.S3N 3 128890593 128890593 CHL1_SKIN 37 Missense_Mutation SNP C T uc003elq.3 CNBP_uc003elr.3... Hybrid_Cap... view
CNTN6 3 1339681 1339686 CHL1_SKIN 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 CHL1_SKIN 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CREBBP p.G740E 16 3824634 3824634 CHL1_SKIN 37 Missense_Mutation SNP C T uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CSMD3 p.H3047N 8 113301603 113301603 CHL1_SKIN 37 Missense_Mutation SNP G T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CYB5R4 p.Q30* 6 84573906 84573906 CHL1_SKIN 37 Nonsense_Mutation SNP C T uc003pkf.2 Hybrid_Cap... view
DAPK3 p.D235D 19 3961084 3961084 CHL1_SKIN 37 Silent SNP G A uc002lzc.1 DAPK3_uc002lzb.... Hybrid_Cap... view
DDR2 p.L324P 1 162731116 162731116 CHL1_SKIN 37 Missense_Mutation SNP T C uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap... view
DFNA5 p.D204V 7 24756959 24756959 CHL1_SKIN 37 Missense_Mutation SNP T A uc010kus.1 DFNA5_uc003swz.... Hybrid_Cap... view
DNMT3B p.R440fs 20 31384616 31384617 CHL1_SKIN 37 Frame_Shift_Ins Ins - G uc002wyc.2 DNMT3B_uc010ztx... Hybrid_Cap...
DOCK3 p.D1123N 3 51352524 51352524 CHL1_SKIN 37 Missense_Mutation SNP G A uc011bds.1 Hybrid_Cap... view
DST p.W1877* 6 56462745 56462745 CHL1_SKIN 37 Nonsense_Mutation SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56707874 56707874 CHL1_SKIN 37 Intron SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EGFR p.V1011M 7 55268965 55268965 CHL1_SKIN 37 Missense_Mutation SNP G A uc003tqk.2 EGFR_uc010kzg.1... Hybrid_Cap... view
EML4 p.V77F 2 42483661 42483661 CHL1_SKIN 37 Missense_Mutation SNP G T uc002rsi.2 EML4_uc002rsh.3... Hybrid_Cap... view
EP300 22 41574970 41574972 CHL1_SKIN 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA5 p.Q1000* 4 66197704 66197704 CHL1_SKIN 37 Nonsense_Mutation SNP G A uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 CHL1_SKIN 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA6 3 97467607 97467607 CHL1_SKIN 37 3'UTR SNP A G uc010how.1 Hybrid_Cap... view
EPHB6 7 142568771 142568771 CHL1_SKIN 37 3'UTR Del C - uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
ERBB4 p.A1083V 2 212251811 212251811 CHL1_SKIN 37 Missense_Mutation SNP G A uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap... view
ERBB4 p.C945F 2 212288912 212288912 CHL1_SKIN 37 Missense_Mutation SNP C A uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap... view
ETV1 7 14028708 14028708 CHL1_SKIN 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
F8 p.T938I X 154159252 154159252 CHL1_SKIN 37 Missense_Mutation SNP G A uc004fmt.2 Hybrid_Cap... view
FANCB p.N350T X 14877359 14877359 CHL1_SKIN 37 Missense_Mutation SNP T G uc004cwg.1 FANCB_uc004cwh.... Hybrid_Cap... view
FANCI p.S200N 15 89807187 89807187 CHL1_SKIN 37 Missense_Mutation SNP G A uc010bnp.1 FANCI_uc002bnm.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 CHL1_SKIN 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 CHL1_SKIN 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNA p.G290_splice X 153595764 153595765 CHL1_SKIN 37 Splice_Site_DNP DNP CC TT uc004fkk.2 FLNA_uc010nuu.1... Hybrid_Cap...
FLT4 5 180035183 180035185 CHL1_SKIN 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FMN2 p.P1179S 1 240371635 240371635 CHL1_SKIN 37 Missense_Mutation SNP C T uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap... view
FN1 2 216244182 216244185 CHL1_SKIN 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GAK p.R1192R 4 844805 844805 CHL1_SKIN 37 Silent SNP C T uc003gbm.3 GAK_uc003gbn.3_... Hybrid_Cap... view
GCNT2 6 10529111 10529112 CHL1_SKIN 37 5'UTR Del AG - uc010joo.2 GCNT2_uc010jol.... Hybrid_Cap...
GLYAT p.K125N 11 58478176 58478176 CHL1_SKIN 37 Missense_Mutation SNP T A uc001nnb.2 GLYAT_uc001nnc.... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 CHL1_SKIN 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 CHL1_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2B p.V1190I 12 13716604 13716604 CHL1_SKIN 37 Missense_Mutation SNP C T uc001rbt.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 CHL1_SKIN 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
GUCY2F p.K574Q X 108673607 108673607 CHL1_SKIN 37 Missense_Mutation SNP T G uc004eod.3 GUCY2F_uc011msq... Hybrid_Cap... view
HDAC2 6 114262021 114262021 CHL1_SKIN 37 3'UTR SNP G A uc003pwd.1 HDAC2_uc003pwc.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 CHL1_SKIN 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 CHL1_SKIN 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 CHL1_SKIN 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IL2 4 123377612 123377612 CHL1_SKIN 37 5'UTR SNP G A uc003ier.2 Hybrid_Cap... view
ILK 11 6630029 6630029 CHL1_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 12 26492315 26492316 CHL1_SKIN 37 3'UTR Ins - T uc001rhg.2 Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 CHL1_SKIN 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAK1 p.P370S 1 65330538 65330538 CHL1_SKIN 37 Missense_Mutation SNP G A uc001dbu.1 JAK1_uc009wam.1... Hybrid_Cap... view
KALRN p.R520Q 3 124053260 124053260 CHL1_SKIN 37 Missense_Mutation SNP G A rs35057827 uc003ehg.2 KALRN_uc010hrv.... Hybrid_Cap... view
KIT p.E640K 4 55594215 55594215 CHL1_SKIN 37 Missense_Mutation SNP G A uc010igr.2 KIT_uc010igs.2_... Hybrid_Cap... view
KLK7 19 51480672 51480675 CHL1_SKIN 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KTN1 14 56150904 56150904 CHL1_SKIN 37 3'UTR SNP C T uc001xcb.2 KTN1_uc001xce.2... Hybrid_Cap... view
LRGUK p.S807N 7 133948669 133948669 CHL1_SKIN 37 Missense_Mutation SNP G A uc003vrm.1 Hybrid_Cap... view
LRP1 p.P1029L 12 57563013 57563013 CHL1_SKIN 37 Missense_Mutation SNP C T uc001snd.2 LRP1_uc009zpi.1... Hybrid_Cap... view
LRP2 p.F1747L 2 170083085 170083085 CHL1_SKIN 37 Missense_Mutation SNP G C uc002ues.2 Hybrid_Cap... view
LRP6 12 12273960 12273960 CHL1_SKIN 37 3'UTR SNP C T uc001rah.3 BCL2L14_uc001ra... Hybrid_Cap... view
MAF 16 79628537 79628537 CHL1_SKIN 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML2 p.G871E 11 95712971 95712971 CHL1_SKIN 37 Missense_Mutation SNP C T uc001pfw.1 Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 CHL1_SKIN 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 CHL1_SKIN 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK14 6 36076345 36076354 CHL1_SKIN 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MAPK3 p.I228V 16 30129084 30129084 CHL1_SKIN 37 Missense_Mutation SNP T C uc002dws.2 BOLA2_uc010bzb.... Hybrid_Cap... view
MAPK8 p.A409S 10 49643013 49643013 CHL1_SKIN 37 Missense_Mutation SNP G T uc009xnz.2 MAPK8_uc001jgl.... Hybrid_Cap... view
MARK4 p.D328N 19 45781849 45781849 CHL1_SKIN 37 Missense_Mutation SNP G A uc002pba.1 MARK4_uc002paz.... Hybrid_Cap... view
MAST2 1 46501744 46501744 CHL1_SKIN 37 3'UTR SNP G A uc001cov.2 MAST2_uc001cow.... Hybrid_Cap... view
MCM3APAS 21 47671275 47671276 CHL1_SKIN 37 3'UTR Ins - AAT rs67797185 uc002zin.2 MCM3APAS_uc002z... Hybrid_Cap...
MECOM p.A90E 3 169099081 169099081 CHL1_SKIN 37 Missense_Mutation SNP G T uc011bpj.1 MECOM_uc003ffl.... Hybrid_Cap... view
MEN1 p.T604I 11 64571843 64571843 CHL1_SKIN 37 Missense_Mutation SNP G A uc001obj.2 MAP4K2_uc001obh... Hybrid_Cap... view
MET p.P761S 7 116399407 116399407 CHL1_SKIN 37 Missense_Mutation SNP C T uc010lkh.2 MET_uc003vij.2_... Hybrid_Cap... view
MLL3 p.Q3792* 7 151859288 151859288 CHL1_SKIN 37 Nonsense_Mutation SNP G A rs75191113 uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLLT3 9 20621000 20621000 CHL1_SKIN 37 Intron SNP C T uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 CHL1_SKIN 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MSH6 p.S1208F 2 48032823 48032823 CHL1_SKIN 37 Missense_Mutation SNP C T uc002rwd.3 MSH6_uc010fbj.2... Hybrid_Cap... view
MYO3B p.S1182N 2 171376020 171376020 CHL1_SKIN 37 Missense_Mutation SNP G A uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 CHL1_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 CHL1_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCKIPSD p.E354D 3 48718750 48718750 CHL1_SKIN 37 Missense_Mutation SNP C A uc003cun.2 NCKIPSD_uc003cu... Hybrid_Cap... view
NCOA3 p.G534E 20 46264731 46264731 CHL1_SKIN 37 Missense_Mutation SNP G A uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap... view
NCOA4 10 51589320 51589320 CHL1_SKIN 37 3'UTR SNP G A uc009xon.2 PARG_uc001jih.2... Hybrid_Cap... view
NOTCH4 p.P995S 6 32172049 32172049 CHL1_SKIN 37 Missense_Mutation SNP G A uc003obb.2 NOTCH4_uc003oba... Hybrid_Cap... view
NPR1 1 153665919 153665920 CHL1_SKIN 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NRBP1 p.P373S 2 27663350 27663350 CHL1_SKIN 37 Missense_Mutation SNP C T uc002rko.2 NRBP1_uc002rkq.... Hybrid_Cap... view
NUMA1 p.S2047L 11 71715129 71715129 CHL1_SKIN 37 Missense_Mutation SNP G A uc001orl.1 IL18BP_uc009ysu... Hybrid_Cap... view
NUP153 p.G743R 6 17637714 17637714 CHL1_SKIN 37 Missense_Mutation SNP C T uc011dje.1 NUP153_uc003ncd... Hybrid_Cap... view
NUP98 p.D872N 11 3733922 3733922 CHL1_SKIN 37 Missense_Mutation SNP C T uc001lyh.2 NUP98_uc001lyi.... Hybrid_Cap... view
NYNRIN p.V534I 14 24878600 24878600 CHL1_SKIN 37 Missense_Mutation SNP G A uc001wpf.3 Hybrid_Cap... view
OBSCN p.S4923N 1 228509310 228509310 CHL1_SKIN 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
ODZ1 p.T1980I X 123519664 123519664 CHL1_SKIN 37 Missense_Mutation SNP G A uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
PAX3 2 223066017 223066018 CHL1_SKIN 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAXIP1 7 154759428 154759428 CHL1_SKIN 37 Intron SNP G A uc003wlp.2 PAXIP1_uc003wlq... Hybrid_Cap... view
PCM1 p.E627K 8 17815123 17815123 CHL1_SKIN 37 Missense_Mutation SNP G A uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap... view
PDCD11 p.G83E 10 105162888 105162888 CHL1_SKIN 37 Missense_Mutation SNP G A uc001kwy.1 Hybrid_Cap... view
PDCD11 p.G1507R 10 105200569 105200569 CHL1_SKIN 37 Missense_Mutation SNP G A uc001kwy.1 Hybrid_Cap... view
PDE4DIP p.Q1665fs 1 144873963 144873963 CHL1_SKIN 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PHF3 p.D1926Y 6 64423260 64423260 CHL1_SKIN 37 Missense_Mutation SNP G T uc003pep.1 PHF3_uc003pen.2... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 CHL1_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPRC p.W817* 1 198711051 198711051 CHL1_SKIN 37 Nonsense_Mutation SNP G A uc001gur.1 PTPRC_uc001gus.... Hybrid_Cap... view
RABEP1 p.T371S 17 5264519 5264519 CHL1_SKIN 37 Missense_Mutation SNP C G uc002gbm.3 RABEP1_uc010clc... Hybrid_Cap... view
RAD50 p.D324N 5 131923700 131923700 CHL1_SKIN 37 Missense_Mutation SNP G A uc003kxi.2 RAD50_uc003kxh.... Hybrid_Cap... view
RAPGEF2 4 160189200 160189201 CHL1_SKIN 37 5'UTR Ins - T rs72011511 uc003iqg.3 Hybrid_Cap...
RARA p.P30S 17 38487558 38487558 CHL1_SKIN 37 Missense_Mutation SNP C T uc002huk.1 RARA_uc002hul.3... Hybrid_Cap... view
RARB p.T324R 3 25635157 25635157 CHL1_SKIN 37 Missense_Mutation SNP C G uc011awl.1 RARB_uc003cdi.1... Hybrid_Cap... view
RARB p.P345A 3 25636031 25636031 CHL1_SKIN 37 Missense_Mutation SNP C G uc011awl.1 RARB_uc003cdi.1... Hybrid_Cap... view
RARB p.A389G 3 25636164 25636164 CHL1_SKIN 37 Missense_Mutation SNP C G uc011awl.1 RARB_uc003cdi.1... Hybrid_Cap... view
RASGRF2 p.S508N 5 80388752 80388752 CHL1_SKIN 37 Missense_Mutation SNP G A uc003kha.1 RASGRF2_uc011ct... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 CHL1_SKIN 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RIF1 2 152331769 152331770 CHL1_SKIN 37 3'UTR Ins - TT rs34575263 uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap...
RPS6KA5 14 91360733 91360734 CHL1_SKIN 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 CHL1_SKIN 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
RPTOR 17 78797184 78797184 CHL1_SKIN 37 Intron SNP C T uc002jyt.1 RPTOR_uc002jys.... Hybrid_Cap... view
SCYL3 p.G492S 1 169824937 169824937 CHL1_SKIN 37 Missense_Mutation SNP C T uc001ggs.2 SCYL3_uc010plw.... Hybrid_Cap... view
SFRS3 p.G91D 6 36566691 36566691 CHL1_SKIN 37 Missense_Mutation SNP G A uc003omj.2 SFRS3_uc003omk.... Hybrid_Cap... view
SHC1 p.C169Y 1 154941914 154941914 CHL1_SKIN 37 Missense_Mutation SNP C T uc001ffw.2 SHC1_uc001ffz.1... Hybrid_Cap... view
SLK 10 105785511 105785511 CHL1_SKIN 37 3'UTR SNP C T uc001kxo.1 SLK_uc001kxp.1_... Hybrid_Cap... view
SMO p.A572S 7 128850867 128850867 CHL1_SKIN 37 Missense_Mutation SNP G T uc003vor.2 SMO_uc003vos.2_... Hybrid_Cap... view
SMURF1 p.G248S 7 98649044 98649044 CHL1_SKIN 37 Missense_Mutation SNP C T uc003upu.1 SMURF1_uc003upv... Hybrid_Cap... view
SOS1 p.G21R 2 39347503 39347503 CHL1_SKIN 37 Missense_Mutation SNP C T uc002rrk.3 SOS1_uc010ynr.1... Hybrid_Cap... view
SOX11 2 5834294 5834294 CHL1_SKIN 37 3'UTR SNP G A uc002qyj.2 Hybrid_Cap... view
SRPK2 p.I384V 7 104782848 104782848 CHL1_SKIN 37 Missense_Mutation SNP T C uc003vcv.2 SRPK2_uc003vct.... Hybrid_Cap... view
STARD3 p.P195L 17 37815011 37815011 CHL1_SKIN 37 Missense_Mutation SNP C T uc002hsd.2 STARD3_uc010weg... Hybrid_Cap... view
STARD3 17 37819186 37819186 CHL1_SKIN 37 3'UTR SNP C T uc002hsd.2 STARD3_uc010weh... Hybrid_Cap... view
STAT3 p.R688W 17 40474339 40474339 CHL1_SKIN 37 Missense_Mutation SNP G A uc002hzl.1 STAT3_uc002hzk.... Hybrid_Cap... view
STK25 2 242435659 242435662 CHL1_SKIN 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 CHL1_SKIN 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
SYK p.G588R 9 93650836 93650836 CHL1_SKIN 37 Missense_Mutation SNP G A uc004aqz.2 SYK_uc004ara.2_... Hybrid_Cap... view
TAF1 p.A83T X 70587415 70587415 CHL1_SKIN 37 Missense_Mutation SNP G A uc004dzt.3 BCYRN1_uc011mpt... Hybrid_Cap... view
TEC 4 48139307 48139310 CHL1_SKIN 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TFEB p.G220S 6 41655700 41655700 CHL1_SKIN 37 Missense_Mutation SNP C T uc003oqu.1 TFEB_uc003oqs.1... Hybrid_Cap... view
TFG p.P199L 3 100455435 100455435 CHL1_SKIN 37 Missense_Mutation SNP C T uc003due.2 TFG_uc003duf.2_... Hybrid_Cap... view
TLN1 9 35723144 35723144 CHL1_SKIN 37 Intron SNP G C uc003zxt.2 TLN1_uc003zxu.3... Hybrid_Cap... view
TLR3 p.V658I 4 187004812 187004812 CHL1_SKIN 37 Missense_Mutation SNP G A uc003iyq.2 TLR3_uc011ckz.1... Hybrid_Cap... view
TNFAIP3 p.G429E 6 138199868 138199868 CHL1_SKIN 37 Missense_Mutation SNP G A uc003qhr.2 TNFAIP3_uc003qh... Hybrid_Cap... view
TNFRSF1A p.V247_splice 12 6439763 6439763 CHL1_SKIN 37 Splice_Site_SNP SNP C T uc001qnu.2 TNFRSF1A_uc001q... Hybrid_Cap... view
TNFRSF9 1 7980852 7980852 CHL1_SKIN 37 3'UTR SNP G C uc001aot.2 Hybrid_Cap... view
TP53 p.H193R 17 7578271 7578271 CHL1_SKIN 37 Missense_Mutation SNP T C uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRIM33 1 114940211 114940212 CHL1_SKIN 37 3'UTR Ins - T rs66490349 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRIO p.A2594V 5 14492824 14492824 CHL1_SKIN 37 Missense_Mutation SNP C T uc003jff.2 TRIO_uc003jfg.2... Hybrid_Cap... view
TRPS1 p.S395F 8 116617012 116617012 CHL1_SKIN 37 Missense_Mutation SNP G A uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap... view
TSSK2 p.L315F 22 19119855 19119855 CHL1_SKIN 37 Missense_Mutation SNP C T uc002zow.2 DGCR14_uc002zot... Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 CHL1_SKIN 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN p.V25386I 2 179426999 179426999 CHL1_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.G24063D 2 179430967 179430967 CHL1_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R24051H 2 179431003 179431003 CHL1_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.G14705R 2 179474220 179474220 CHL1_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.Q557L 2 179655565 179655565 CHL1_SKIN 37 Missense_Mutation SNP T A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.A427T 2 179659245 179659245 CHL1_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UBE3B p.R71K 12 109921716 109921716 CHL1_SKIN 37 Missense_Mutation SNP G A uc001top.2 UBE3B_uc001toq.... Hybrid_Cap... view
UHMK1 1 162492462 162492462 CHL1_SKIN 37 3'UTR SNP C T uc001gcc.1 UHMK1_uc001gcb.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 CHL1_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VPS13B p.P1097S 8 100454707 100454707 CHL1_SKIN 37 Missense_Mutation SNP C T uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap... view
WRN p.P723S 8 30969209 30969209 CHL1_SKIN 37 Missense_Mutation SNP C T uc003xio.3 WRN_uc010lvk.2_... Hybrid_Cap... view
ZMYM2 p.S773F 13 20625598 20625598 CHL1_SKIN 37 Missense_Mutation SNP C T uc001umr.2 ZMYM2_uc001ums.... Hybrid_Cap... view