Annotation Summary for Cell Line: COLO-679  

Cell line primary name: COLO-679
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_H06_241028
SNP arrays: ARLES_p_NCLE_DNAAffy2_S_GenomeWideSNP_6_F06_256132
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in COLO-679

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 COLO679_SKIN 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630245 9630245 COLO679_SKIN 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 p.P357S 8 24187594 24187594 COLO679_SKIN 37 Missense_Mutation SNP C T uc003xdy.2 ADAM28_uc003xdx... Hybrid_Cap... view
ADAM28 8 24211994 24211997 COLO679_SKIN 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS20 p.P1751A 12 43769921 43769921 COLO679_SKIN 37 Missense_Mutation SNP G C uc010skx.1 Hybrid_Cap... view
AFF3 p.E765K 2 100209905 100209906 COLO679_SKIN 37 Missense_Mutation DNP CC TT uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 COLO679_SKIN 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 COLO679_SKIN 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 COLO679_SKIN 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 COLO679_SKIN 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
AMHR2 p.V208_splice 12 53819472 53819472 COLO679_SKIN 37 Splice_Site_SNP SNP G A uc001scx.1 AMHR2_uc009zmy.... Hybrid_Cap... view
AMZ2 p.H6Q 17 66246346 66246346 COLO679_SKIN 37 Missense_Mutation SNP C G uc002jgs.1 AMZ2_uc002jgr.1... Hybrid_Cap... view
AMZ2 p.Q9* 17 66246353 66246353 COLO679_SKIN 37 Nonsense_Mutation SNP C T uc002jgs.1 AMZ2_uc002jgr.1... Hybrid_Cap... view
ATM p.A1670V 11 108170444 108170444 COLO679_SKIN 37 Missense_Mutation SNP C T uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
ATP13A5 p.E894K 3 193019095 193019095 COLO679_SKIN 37 Missense_Mutation SNP C T uc011bsq.1 Hybrid_Cap... view
AURKC 19 57742494 57742507 COLO679_SKIN 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCL11A p.F346L 2 60689009 60689009 COLO679_SKIN 37 Missense_Mutation SNP G C uc002sae.1 BCL11A_uc002sab... Hybrid_Cap... view
BCL3 19 45262965 45262968 COLO679_SKIN 37 3'UTR Del CCCC - uc010xxe.1 Hybrid_Cap...
BCR 22 23632777 23632778 COLO679_SKIN 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BRAF p.V600E 7 140453136 140453136 COLO679_SKIN 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
BTG1 12 92537706 92537707 COLO679_SKIN 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CARD10 p.KE272del 22 37906309 37906314 COLO679_SKIN 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CDC42BPG 11 64591807 64591807 COLO679_SKIN 37 3'UTR SNP C T uc001obs.3 Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 COLO679_SKIN 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL3A1 p.G1173E 2 189872861 189872861 COLO679_SKIN 37 Missense_Mutation SNP G A uc002uqj.1 Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 COLO679_SKIN 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSF3R p.R484T 1 36935276 36935276 COLO679_SKIN 37 Missense_Mutation SNP C G uc001cax.1 CSF3R_uc001cat.... Hybrid_Cap... view
CSMD3 p.E2508K 8 113326685 113326685 COLO679_SKIN 37 Missense_Mutation SNP C T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.D158N 8 114290863 114290863 COLO679_SKIN 37 Missense_Mutation SNP C T uc003ynu.2 CSMD3_uc003ynt.... Hybrid_Cap... view
CSNK1D p.P47P 17 80223608 80223608 COLO679_SKIN 37 Silent SNP A C uc002kef.2 CSNK1D_uc002kei... Hybrid_Cap... view
DAB1 p.E133K 1 57537997 57537997 COLO679_SKIN 37 Missense_Mutation SNP C T uc001cys.1 DAB1_uc001cyt.1... Hybrid_Cap... view
DCLK1 p.P585S 13 36383168 36383168 COLO679_SKIN 37 Missense_Mutation SNP G A uc001uvf.2 DCLK1_uc001uve.... Hybrid_Cap... view
DFFB 1 3774006 3774006 COLO679_SKIN 37 5'UTR SNP A G uc010nzn.1 DFFB_uc001alc.2... Hybrid_Cap... view
DNAH8 p.E3644K 6 38905767 38905767 COLO679_SKIN 37 Missense_Mutation SNP G A uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap... view
EDN1 6 12290729 12290729 COLO679_SKIN 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EIF4E 4 99808137 99808141 COLO679_SKIN 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EPHA6 3 97467610 97467611 COLO679_SKIN 37 3'UTR Ins - CT uc010how.1 Hybrid_Cap...
ERBB4 p.G127E 2 212812196 212812196 COLO679_SKIN 37 Missense_Mutation SNP C T uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap... view
ERG p.D398N 21 39755594 39755594 COLO679_SKIN 37 Missense_Mutation SNP C T uc010gnw.2 ERG_uc002yxa.2_... Hybrid_Cap... view
ERN2 p.G148E 16 23721500 23721500 COLO679_SKIN 37 Missense_Mutation SNP C T uc002dma.3 ERN2_uc010bxp.2... Hybrid_Cap... view
FBN2 5 127595046 127595048 COLO679_SKIN 37 3'UTR Del TTA - uc003kuu.2 Hybrid_Cap...
FBN2 p.R999C 5 127681271 127681271 COLO679_SKIN 37 Missense_Mutation SNP G A uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap... view
FGFR2 p.D558N 10 123258012 123258012 COLO679_SKIN 37 Missense_Mutation SNP C T uc010qtj.1 FGFR2_uc010qtg.... Hybrid_Cap... view
FGFR3 4 1809128 1809129 COLO679_SKIN 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 COLO679_SKIN 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLI1 11 128638222 128638223 COLO679_SKIN 37 Intron Ins - T uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNC p.T739I 7 128482379 128482379 COLO679_SKIN 37 Missense_Mutation SNP C T uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FN1 2 216244182 216244185 COLO679_SKIN 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FZD1 p.93_94insP 7 90894459 90894460 COLO679_SKIN 37 In_Frame_Ins Ins - CCG uc003ula.2 Hybrid_Cap...
GHR p.H437Y 5 42718918 42718918 COLO679_SKIN 37 Missense_Mutation SNP C T uc003jmt.2 GHR_uc011cpq.1_... Hybrid_Cap... view
GPR112 p.D1134Y X 135429265 135429265 COLO679_SKIN 37 Missense_Mutation SNP G T uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 COLO679_SKIN 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 COLO679_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2A p.D1024N 16 9858331 9858331 COLO679_SKIN 37 Missense_Mutation SNP C T uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
GRIN2B p.E1205K 12 13716559 13716559 COLO679_SKIN 37 Missense_Mutation SNP C T uc001rbt.2 Hybrid_Cap... view
GUCY2C p.E715K 12 14792810 14792810 COLO679_SKIN 37 Missense_Mutation SNP C T uc001rcd.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 COLO679_SKIN 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC6 p.G696S X 48676718 48676718 COLO679_SKIN 37 Missense_Mutation SNP G A uc011mmi.1 HDAC6_uc004dks.... Hybrid_Cap... view
HIF1A p.P237S 14 62194306 62194306 COLO679_SKIN 37 Missense_Mutation SNP C T uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 COLO679_SKIN 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 COLO679_SKIN 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 COLO679_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB6 p.G764E 2 160958323 160958323 COLO679_SKIN 37 Missense_Mutation SNP C T uc002ubh.2 ITGB6_uc002ubg.... Hybrid_Cap... view
ITPR1 p.E772K 3 4714929 4714929 COLO679_SKIN 37 Missense_Mutation SNP G A uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap... view
KDM5A 12 498429 498429 COLO679_SKIN 37 5'UTR SNP T C uc001qif.1 KDM5A_uc001qie.... Hybrid_Cap... view
KIAA1409 p.L1705M 14 94089157 94089157 COLO679_SKIN 37 Missense_Mutation SNP C A uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap... view
KLK7 19 51480672 51480675 COLO679_SKIN 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRP2 p.H3730Y 2 170028600 170028600 COLO679_SKIN 37 Missense_Mutation SNP G A uc002ues.2 Hybrid_Cap... view
MAF 16 79628537 79628537 COLO679_SKIN 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAF 16 79628325 79628325 COLO679_SKIN 37 3'UTR Del A - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 COLO679_SKIN 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 COLO679_SKIN 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 COLO679_SKIN 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 COLO679_SKIN 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K5 p.R256C 6 137019667 137019667 COLO679_SKIN 37 Missense_Mutation SNP G A uc003qhc.2 MAP3K5_uc011edk... Hybrid_Cap... view
MAPK14 6 36076345 36076354 COLO679_SKIN 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MAPK4 p.D299N 18 48252373 48252373 COLO679_SKIN 37 Missense_Mutation SNP G A uc002lev.2 MAPK4_uc010xdm.... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 COLO679_SKIN 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAST1 19 12985716 12985716 COLO679_SKIN 37 3'UTR SNP C T uc002mvm.2 Hybrid_Cap... view
MECOM p.R114S 3 169099008 169099008 COLO679_SKIN 37 Missense_Mutation SNP C A uc011bpj.1 MECOM_uc003ffl.... Hybrid_Cap... view
MED13L p.V1072I 12 116429545 116429545 COLO679_SKIN 37 Missense_Mutation SNP C T uc001tvw.2 Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 COLO679_SKIN 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MUSK 9 113431137 113431137 COLO679_SKIN 37 5'UTR SNP C T uc004bey.2 MUSK_uc004bex.2... Hybrid_Cap... view
MYH11 p.E1749K 16 15812243 15812243 COLO679_SKIN 37 Missense_Mutation SNP C T uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap... view
MYO3B p.Q803R 2 171260887 171260887 COLO679_SKIN 37 Missense_Mutation SNP A G uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 COLO679_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 COLO679_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 COLO679_SKIN 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 COLO679_SKIN 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NIN p.S1734G 14 51210235 51210235 COLO679_SKIN 37 Missense_Mutation SNP T C uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap... view
NLRP3 p.E539K 1 247588360 247588360 COLO679_SKIN 37 Missense_Mutation SNP G A uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NLRP3 p.W611* 1 247588577 247588577 COLO679_SKIN 37 Nonsense_Mutation SNP G A uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NOTCH2 p.P1418S 1 120468187 120468188 COLO679_SKIN 37 Missense_Mutation DNP GG AA uc001eik.2 Hybrid_Cap...
NPM1 5 170837734 170837734 COLO679_SKIN 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPRL2 p.Q252* 3 50385808 50385808 COLO679_SKIN 37 Nonsense_Mutation SNP G A uc003daj.1 ZMYND10_uc003da... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 COLO679_SKIN 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRK p.R1251C X 105181525 105181526 COLO679_SKIN 37 Missense_Mutation DNP CC TT uc004emd.2 NRK_uc010npc.1_... Hybrid_Cap...
NTRK2 p.D835H 9 87636338 87636338 COLO679_SKIN 37 Missense_Mutation SNP G C uc004anz.1 NTRK2_uc004aoa.... Hybrid_Cap... view
NUP214 p.G1983W 9 134103591 134103591 COLO679_SKIN 37 Missense_Mutation SNP G T uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
OBSCN p.S2403F 1 228466957 228466957 COLO679_SKIN 37 Missense_Mutation SNP C T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
ODZ1 p.S284F X 123839027 123839027 COLO679_SKIN 37 Missense_Mutation SNP G A uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
PAX3 2 223158653 223158653 COLO679_SKIN 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PHF3 p.R1348H 6 64421527 64421527 COLO679_SKIN 37 Missense_Mutation SNP G A uc003pep.1 PHF3_uc003pen.2... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 COLO679_SKIN 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIP5K1B p.S499L 9 71555700 71555700 COLO679_SKIN 37 Missense_Mutation SNP C T uc004agu.2 PIP5K1B_uc011lr... Hybrid_Cap... view
PKHD1 p.Q205* 6 51935858 51935858 COLO679_SKIN 37 Nonsense_Mutation SNP G A uc003pah.1 PKHD1_uc003pai.... Hybrid_Cap... view
PML p.P67P 15 74290416 74290416 COLO679_SKIN 37 Silent SNP G A uc002awv.2 PML_uc002awm.2_... Hybrid_Cap... view
PMS1 2 190670539 190670540 COLO679_SKIN 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PPP3R1 p.F15_splice 2 68415824 68415824 COLO679_SKIN 37 Splice_Site_SNP SNP T A uc002sei.1 Hybrid_Cap... view
PRKCA 17 64298959 64298960 COLO679_SKIN 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKCH 14 61788732 61788732 COLO679_SKIN 37 5'UTR SNP C T uc001xfn.2 PRKCH_uc010tsa.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 COLO679_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPN11 p.F341Y 12 112915749 112915749 COLO679_SKIN 37 Missense_Mutation SNP T A uc001ttx.2 PTPN11_uc001ttw... Hybrid_Cap... view
PXDN p.R1203_splice 2 1648526 1648526 COLO679_SKIN 37 Splice_Site_SNP SNP T A uc002qxa.2 Hybrid_Cap... view
PXDN p.Q145Q 2 1687905 1687905 COLO679_SKIN 37 Silent SNP C T uc002qxa.2 PXDN_uc002qxb.1... Hybrid_Cap... view
RASGRF1 p.G614R 15 79304856 79304856 COLO679_SKIN 37 Missense_Mutation SNP C T uc002beq.2 RASGRF1_uc002be... Hybrid_Cap... view
RGS22 p.P167L 8 101083691 101083691 COLO679_SKIN 37 Missense_Mutation SNP G A uc003yjb.1 RGS22_uc003yja.... Hybrid_Cap... view
ROBO2 3 77666937 77666937 COLO679_SKIN 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
SEPT3 22 42390888 42390895 COLO679_SKIN 37 Intron Del TGTGT... - uc003bbr.3 WBP2NL_uc011ape... Hybrid_Cap...
SEPT6 X 118752719 118752719 COLO679_SKIN 37 3'UTR SNP G A uc004erv.2 SEPT6_uc010nqk.... Hybrid_Cap... view
SMAD7 p.S303L 18 46448115 46448115 COLO679_SKIN 37 Missense_Mutation SNP G A uc002ldg.2 SMAD7_uc002ldf.... Hybrid_Cap... view
SP140 p.G599E 2 231155250 231155250 COLO679_SKIN 37 Missense_Mutation SNP G A uc002vql.2 SP140_uc010zma.... Hybrid_Cap... view
SPEN p.P2838S 1 16261247 16261247 COLO679_SKIN 37 Missense_Mutation SNP C T uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap... view
SPEN p.S3635F 1 16265831 16265831 COLO679_SKIN 37 Missense_Mutation SNP C T uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap... view
SRPK1 6 35802954 35802955 COLO679_SKIN 37 3'UTR Ins - A uc003olj.2 SRPK1_uc011dtg.... Hybrid_Cap...
STK25 2 242435659 242435662 COLO679_SKIN 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 COLO679_SKIN 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK33 11 8413787 8413787 COLO679_SKIN 37 3'UTR SNP C T uc001mgi.1 STK33_uc001mgj.... Hybrid_Cap... view
TAB1 22 39832639 39832639 COLO679_SKIN 37 3'UTR SNP T C uc003axu.1 Hybrid_Cap... view
TBX18 p.L126L 6 85472383 85472383 COLO679_SKIN 37 Silent SNP G A uc003pkl.1 TBX18_uc010kbq.... Hybrid_Cap... view
TEC 4 48139307 48139310 COLO679_SKIN 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TEC p.P309L 4 48151654 48151654 COLO679_SKIN 37 Missense_Mutation SNP G A uc003gxz.2 Hybrid_Cap... view
TMEM123 11 102269461 102269461 COLO679_SKIN 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP63 p.P148L 3 189526179 189526179 COLO679_SKIN 37 Missense_Mutation SNP C T uc003fry.2 TP63_uc003frx.2... Hybrid_Cap... view
TRPS1 8 116635872 116635873 COLO679_SKIN 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TSHR p.M637I 14 81610313 81610313 COLO679_SKIN 37 Missense_Mutation SNP G A uc001xvd.1 Hybrid_Cap... view
TTN 2 179391639 179391640 COLO679_SKIN 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.A17680E 2 179455709 179455709 COLO679_SKIN 37 Missense_Mutation SNP G T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.S15587L 2 179468950 179468950 COLO679_SKIN 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.S7076F 2 179582774 179582774 COLO679_SKIN 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E5192K 2 179593347 179593347 COLO679_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R3494Q 2 179602967 179602967 COLO679_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN 2 179613640 179613640 COLO679_SKIN 37 Intron SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN 2 179615354 179615354 COLO679_SKIN 37 Intron SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UHMK1 p.V358A 1 162487940 162487940 COLO679_SKIN 37 Missense_Mutation SNP T C uc001gcc.1 UHMK1_uc001gcb.... Hybrid_Cap... view
VEGFC 4 177605046 177605046 COLO679_SKIN 37 3'UTR SNP G A uc003ius.1 Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 COLO679_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK1 p.S1300F 12 993869 993869 COLO679_SKIN 37 Missense_Mutation SNP C T uc001qio.3 WNK1_uc001qip.3... Hybrid_Cap... view
ZFYVE9 p.Q1060H 1 52759279 52759279 COLO679_SKIN 37 Missense_Mutation SNP G T uc001cto.2 ZFYVE9_uc001ctp... Hybrid_Cap... view