Annotation Summary for Cell Line: IPC-298  

Cell line primary name: IPC-298
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_B08_240888
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_B06_246644
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in IPC-298

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 IPC298_SKIN 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACA 17 35766564 35766564 IPC298_SKIN 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ACACB p.P638L 12 109623478 109623478 IPC298_SKIN 37 Missense_Mutation SNP C T uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ACACB p.L1398F 12 109671605 109671605 IPC298_SKIN 37 Missense_Mutation SNP C T uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ADAM17 2 9630245 9630245 IPC298_SKIN 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM18 p.D459N 8 39525565 39525565 IPC298_SKIN 37 Missense_Mutation SNP G A uc003xni.2 ADAM18_uc010lww... Hybrid_Cap... view
ADAM28 p.I95I 8 24167733 24167733 IPC298_SKIN 37 Silent SNP C T uc003xdy.2 ADAM28_uc003xdx... Hybrid_Cap... view
ADAM28 p.E340K 8 24187543 24187543 IPC298_SKIN 37 Missense_Mutation SNP G A uc003xdy.2 ADAM28_uc003xdx... Hybrid_Cap... view
ADAM28 8 24211994 24211997 IPC298_SKIN 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM29 p.P36S 4 175896782 175896782 IPC298_SKIN 37 Missense_Mutation SNP C T uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap... view
ADAM32 p.S627L 8 39103663 39103663 IPC298_SKIN 37 Missense_Mutation SNP C T uc003xmt.3 ADAM32_uc011lch... Hybrid_Cap... view
ADAMTS18 p.R1047Q 16 77327022 77327022 IPC298_SKIN 37 Missense_Mutation SNP C T uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap... view
ADAMTS19 p.R316Q 5 128862028 128862028 IPC298_SKIN 37 Missense_Mutation SNP G A uc003kvb.1 ADAMTS19_uc003k... Hybrid_Cap... view
AKAP12 p.G269del 6 151670330 151670332 IPC298_SKIN 37 In_Frame_Del Del AGG - rs111963593;rs111653642 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 IPC298_SKIN 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 p.R718C 4 113352855 113352855 IPC298_SKIN 37 Missense_Mutation SNP C T uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap... view
ALPK2 p.EDTST1006del 18 56204388 56204402 IPC298_SKIN 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALS2 2 202587706 202587707 IPC298_SKIN 37 Intron Ins - A rs3219165 uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
ASPH p.A264_splice 8 62550924 62550925 IPC298_SKIN 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ATM p.F2265L 11 108196259 108196259 IPC298_SKIN 37 Missense_Mutation SNP C G rs3218699 uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
ATP13A5 p.R786C 3 193029694 193029694 IPC298_SKIN 37 Missense_Mutation SNP G A uc011bsq.1 Hybrid_Cap... view
ATP8B1 p.W1095* 18 55319382 55319382 IPC298_SKIN 37 Nonsense_Mutation SNP C T rs79391613 uc002lgw.2 Hybrid_Cap... view
AURKC 19 57742494 57742507 IPC298_SKIN 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCR 22 23632777 23632778 IPC298_SKIN 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BLK 8 11418690 11418693 IPC298_SKIN 37 Intron Del TCCA - uc003wty.2 BLK_uc003wtz.2_... Hybrid_Cap...
CACNA1F p.R1502* X 49067064 49067064 IPC298_SKIN 37 Nonsense_Mutation SNP G A uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap... view
CARD11 p.E93K 7 2985534 2985534 IPC298_SKIN 37 Missense_Mutation SNP C T uc003smv.2 Hybrid_Cap... view
CATSPERB p.G148E 14 92174508 92174508 IPC298_SKIN 37 Missense_Mutation SNP C T uc001xzs.1 Hybrid_Cap... view
CCR1 p.E350K 3 46244757 46244757 IPC298_SKIN 37 Missense_Mutation SNP C T uc003cph.1 CCR3_uc003cpg.1... Hybrid_Cap... view
CDKN2A p.G155S 9 21971061 21971062 IPC298_SKIN 37 Missense_Mutation DNP CC TG uc003zpl.2 MTAP_uc003zpi.1... Hybrid_Cap...
CHD9 p.P2488L 16 53348835 53348835 IPC298_SKIN 37 Missense_Mutation SNP C T uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHL1 p.P628L 3 423868 423868 IPC298_SKIN 37 Missense_Mutation SNP C T uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 IPC298_SKIN 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN1 p.P137S 12 41318367 41318367 IPC298_SKIN 37 Missense_Mutation SNP C T uc001rmm.1 CNTN1_uc009zjy.... Hybrid_Cap... view
CNTN5 p.Q707* 11 100126605 100126605 IPC298_SKIN 37 Nonsense_Mutation SNP C T uc001pga.2 CNTN5_uc001pfz.... Hybrid_Cap... view
CNTN5 11 100179295 100179295 IPC298_SKIN 37 Intron SNP G A uc001pga.2 CNTN5_uc001pfz.... Hybrid_Cap... view
CNTN6 3 1339681 1339686 IPC298_SKIN 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
COL14A1 p.G402E 8 121220484 121220484 IPC298_SKIN 37 Missense_Mutation SNP G A uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 IPC298_SKIN 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSMD3 p.P258S 8 114111130 114111130 IPC298_SKIN 37 Missense_Mutation SNP G A uc003ynu.2 CSMD3_uc003ynt.... Hybrid_Cap... view
CTBP2 p.Q175fs 10 126715804 126715805 IPC298_SKIN 37 Frame_Shift_Del Del CT - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CYP3A4 p.R268* 7 99364063 99364063 IPC298_SKIN 37 Nonsense_Mutation SNP G A uc003urv.1 CYP3A4_uc003urw... Hybrid_Cap... view
DAXX p.S65L 6 33289545 33289545 IPC298_SKIN 37 Missense_Mutation SNP G A uc011dre.1 DAXX_uc011drd.1... Hybrid_Cap... view
DCLK2 p.G398E 4 151142838 151142838 IPC298_SKIN 37 Missense_Mutation SNP G A uc003ilo.3 DCLK2_uc003ilm.... Hybrid_Cap... view
DDR2 1 162750211 162750212 IPC298_SKIN 37 3'UTR Del TT - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DIABLO 12 122709259 122709260 IPC298_SKIN 37 Intron Ins - A uc010tab.1 DIABLO_uc010taa... Hybrid_Cap...
DNAH8 p.S3507F 6 38897339 38897339 IPC298_SKIN 37 Missense_Mutation SNP C T uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap... view
DPYD p.L806R 1 97700433 97700433 IPC298_SKIN 37 Missense_Mutation SNP A C uc001drv.2 Hybrid_Cap... view
DYRK1A 21 38884966 38884967 IPC298_SKIN 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EP300 22 41574970 41574972 IPC298_SKIN 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA3 3 89448659 89448659 IPC298_SKIN 37 Intron SNP G A uc003dqy.2 EPHA3_uc003dqx.... Hybrid_Cap... view
EPHB3 p.S185F 3 184290662 184290662 IPC298_SKIN 37 Missense_Mutation SNP C T uc003foz.2 Hybrid_Cap... view
ERBB2 17 37873788 37873788 IPC298_SKIN 37 Intron SNP C T uc002hso.2 ERBB2_uc002hsm.... Hybrid_Cap... view
FBLN5 p.P132L 14 92403398 92403398 IPC298_SKIN 37 Missense_Mutation SNP G A uc010aue.2 FBLN5_uc010aud.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 IPC298_SKIN 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 IPC298_SKIN 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FGFR4 p.S375S 5 176520206 176520206 IPC298_SKIN 37 Silent SNP G A uc003mfl.2 FGFR4_uc003mfm.... Hybrid_Cap... view
FIP1L1 4 54245383 54245383 IPC298_SKIN 37 Intron SNP A T uc003gzy.2 PDGFRA_uc003haa... Hybrid_Cap... view
FLNB p.S1560F 3 58120414 58120414 IPC298_SKIN 37 Missense_Mutation SNP C T uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FLNC p.G1548D 7 128488677 128488677 IPC298_SKIN 37 Missense_Mutation SNP G A uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FLNC p.D2389N 7 128495282 128495282 IPC298_SKIN 37 Missense_Mutation SNP G A uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FLT3 p.K634N 13 28608064 28608064 IPC298_SKIN 37 Missense_Mutation SNP T A uc001urw.2 FLT3_uc010aao.2... Hybrid_Cap... view
FLT4 p.P422P 5 180053024 180053024 IPC298_SKIN 37 Silent SNP G T uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap... view
FLT4 p.S239L 5 180056796 180056796 IPC298_SKIN 37 Missense_Mutation SNP G A uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap... view
FMN2 p.M1297I 1 240371991 240371991 IPC298_SKIN 37 Missense_Mutation SNP G A uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap... view
FN1 2 216244182 216244185 IPC298_SKIN 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FYN p.R206C 6 112024169 112024169 IPC298_SKIN 37 Missense_Mutation SNP G A uc003pvj.2 FYN_uc003pvi.2_... Hybrid_Cap... view
GHR p.E201K 5 42700087 42700087 IPC298_SKIN 37 Missense_Mutation SNP G A uc003jmt.2 GHR_uc011cpq.1_... Hybrid_Cap... view
GLI2 p.I317I 2 121728074 121728074 IPC298_SKIN 37 Silent SNP C T uc010flp.2 GLI2_uc002tmq.1... Hybrid_Cap... view
GPR112 p.D2457N X 135445727 135445727 IPC298_SKIN 37 Missense_Mutation SNP G A uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR119 p.Y185H X 129518869 129518869 IPC298_SKIN 37 Missense_Mutation SNP A G uc011muv.1 Hybrid_Cap... view
GPR141 p.E125K 7 37780367 37780368 IPC298_SKIN 37 Missense_Mutation DNP GG AA uc003tfm.1 Hybrid_Cap...
GRB7 17 37898526 37898526 IPC298_SKIN 37 5'UTR SNP C T uc002hsr.2 GRB7_uc002hss.2... Hybrid_Cap... view
GRIA3 X 122318386 122318387 IPC298_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2B p.S1015F 12 13717128 13717128 IPC298_SKIN 37 Missense_Mutation SNP G A uc001rbt.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 IPC298_SKIN 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HEPH X 65390399 65390399 IPC298_SKIN 37 Splice_Site_SNP SNP G A uc011moz.1 HEPH_uc004dwn.2... Hybrid_Cap... view
HIF1A 14 62213929 62213930 IPC298_SKIN 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIP1 7 75167430 75167430 IPC298_SKIN 37 3'UTR SNP G A uc003uds.1 HIP1_uc011kfz.1... Hybrid_Cap... view
HNF1A 12 121434630 121434631 IPC298_SKIN 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 IPC298_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INHBA 7 41729133 41729133 IPC298_SKIN 37 3'UTR SNP G T rs78056785 uc003thq.2 INHBA_uc003thr.... Hybrid_Cap... view
INHBA 7 41729144 41729144 IPC298_SKIN 37 3'UTR SNP A T uc003thq.2 INHBA_uc003thr.... Hybrid_Cap... view
INHBA p.R241Q 7 41729807 41729807 IPC298_SKIN 37 Missense_Mutation SNP C T uc003thq.2 INHBA_uc003thr.... Hybrid_Cap... view
ITPR1 p.R2637K 3 4878483 4878483 IPC298_SKIN 37 Missense_Mutation SNP G A uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 IPC298_SKIN 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
ITPR2 p.T221I 12 26868731 26868731 IPC298_SKIN 37 Missense_Mutation SNP G A uc001rhg.2 Hybrid_Cap... view
KALRN p.L895F 3 124141805 124141805 IPC298_SKIN 37 Missense_Mutation SNP C T uc003ehg.2 KALRN_uc010hrv.... Hybrid_Cap... view
KIAA1409 p.E1603K 14 94088851 94088851 IPC298_SKIN 37 Missense_Mutation SNP G A uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap... view
KIAA2022 p.R313* X 73963455 73963455 IPC298_SKIN 37 Nonsense_Mutation SNP G A uc004eby.2 Hybrid_Cap... view
KLK7 19 51480672 51480675 IPC298_SKIN 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KSR1 p.P340S 17 25924423 25924423 IPC298_SKIN 37 Missense_Mutation SNP C T uc010crg.2 KSR1_uc002gzj.1... Hybrid_Cap... view
KSR2 p.P233L 12 118199017 118199017 IPC298_SKIN 37 Missense_Mutation SNP G A uc001two.2 Hybrid_Cap... view
LAMA1 p.G101R 18 7080018 7080018 IPC298_SKIN 37 Missense_Mutation SNP C T uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LMTK2 p.L592F 7 97821551 97821551 IPC298_SKIN 37 Missense_Mutation SNP C T uc003upd.1 Hybrid_Cap... view
LRP1B p.G3245R 2 141215113 141215113 IPC298_SKIN 37 Missense_Mutation SNP C T uc002tvj.1 Hybrid_Cap... view
LRP1B p.S2894L 2 141259425 141259425 IPC298_SKIN 37 Missense_Mutation SNP G A uc002tvj.1 Hybrid_Cap... view
LRP1B p.G2661E 2 141283457 141283457 IPC298_SKIN 37 Missense_Mutation SNP C T uc002tvj.1 Hybrid_Cap... view
LRP1B p.D478N 2 141812805 141812805 IPC298_SKIN 37 Missense_Mutation SNP C T uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
LRP1B p.D322N 2 141946039 141946039 IPC298_SKIN 37 Missense_Mutation SNP C T uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
LRP2 p.E1919K 2 170072834 170072834 IPC298_SKIN 37 Missense_Mutation SNP C T uc002ues.2 Hybrid_Cap... view
MAF 16 79628537 79628537 IPC298_SKIN 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAF 16 79628325 79628325 IPC298_SKIN 37 3'UTR Del A - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 IPC298_SKIN 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 IPC298_SKIN 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K6 17 67516353 67516353 IPC298_SKIN 37 Intron SNP A T rs77138194 uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 IPC298_SKIN 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 IPC298_SKIN 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK7 p.S585F 17 19285370 19285370 IPC298_SKIN 37 Missense_Mutation SNP C T uc002gvn.2 MAPK7_uc002gvo.... Hybrid_Cap... view
MAST4 p.R1061W 5 66456383 66456383 IPC298_SKIN 37 Missense_Mutation SNP C T uc003jut.1 MAST4_uc003juw.... Hybrid_Cap... view
MCM3APAS 21 47671275 47671276 IPC298_SKIN 37 3'UTR Ins - AAT rs67797185 uc002zin.2 MCM3APAS_uc002z... Hybrid_Cap...
MET 7 116381154 116381154 IPC298_SKIN 37 Intron SNP T G uc010lkh.2 MET_uc003vij.2_... Hybrid_Cap... view
MFSD2A 1 40435515 40435515 IPC298_SKIN 37 3'UTR Del T - rs79314830 uc001cev.2 MFSD2A_uc001ceu... Hybrid_Cap...
MLLT4 6 168352908 168352908 IPC298_SKIN 37 Intron SNP C T uc003qwd.2 MLLT4_uc003qwb.... Hybrid_Cap... view
MLLT6 p.P112S 17 36864105 36864105 IPC298_SKIN 37 Missense_Mutation SNP C T uc002hqi.3 MLLT6_uc010wdr.... Hybrid_Cap... view
MMP2 p.G505R 16 55530878 55530878 IPC298_SKIN 37 Missense_Mutation SNP G A uc002ehz.3 MMP2_uc010vhd.1... Hybrid_Cap... view
MMP8 p.R312K 11 102586136 102586136 IPC298_SKIN 37 Missense_Mutation SNP C T uc001phe.2 MMP8_uc010rut.1... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 IPC298_SKIN 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MTCP1 X 154292314 154292314 IPC298_SKIN 37 3'UTR SNP A G uc004fmz.2 MTCP1NB_uc004fm... Hybrid_Cap... view
MTOR p.A1836T 1 11190693 11190693 IPC298_SKIN 37 Missense_Mutation SNP C T uc001asd.2 MTOR_uc001asc.2... Hybrid_Cap... view
MUSK p.E358K 9 113530251 113530251 IPC298_SKIN 37 Missense_Mutation SNP G A uc004bey.2 Hybrid_Cap... view
MYH10 p.P768S 17 8422240 8422240 IPC298_SKIN 37 Missense_Mutation SNP G A uc002glm.2 MYH10_uc002gll.... Hybrid_Cap... view
MYH11 p.R716C 16 15841959 15841959 IPC298_SKIN 37 Missense_Mutation SNP G A uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap... view
MYO18B p.D2556N 22 26423606 26423606 IPC298_SKIN 37 Missense_Mutation SNP G A uc003abz.1 MYO18B_uc003aca... Hybrid_Cap... view
NCAM1 11 112832307 112832308 IPC298_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 IPC298_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 p.W56* 11 113130941 113130942 IPC298_SKIN 37 Nonsense_Mutation DNP GG AA uc001pns.2 Hybrid_Cap...
NDE1 16 15818487 15818487 IPC298_SKIN 37 3'UTR SNP G A uc010uzy.1 MYH11_uc002ddv.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 IPC298_SKIN 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFATC1 p.S207F 18 77170895 77170895 IPC298_SKIN 37 Missense_Mutation SNP C T uc010xfg.1 NFATC1_uc002lnc... Hybrid_Cap... view
NFIA p.L124S 1 61554029 61554029 IPC298_SKIN 37 Missense_Mutation SNP T C uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap... view
NFIA 1 61921185 61921186 IPC298_SKIN 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NGF p.A60V 1 115829238 115829238 IPC298_SKIN 37 Missense_Mutation SNP G A uc001efu.1 Hybrid_Cap... view
NLRP1 p.L844S 17 5445345 5445345 IPC298_SKIN 37 Missense_Mutation SNP A G uc002gci.2 NLRP1_uc002gcg.... Hybrid_Cap... view
NOTCH4 6 32169304 32169304 IPC298_SKIN 37 Intron SNP G A uc003obb.2 NOTCH4_uc003oba... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 IPC298_SKIN 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR2F1 p.E342K 5 92929300 92929300 IPC298_SKIN 37 Missense_Mutation SNP G A uc003kkj.2 Hybrid_Cap... view
NRAS p.Q61L 1 115256529 115256529 IPC298_SKIN 37 Missense_Mutation SNP T A rs11554290 uc009wgu.2 Hybrid_Cap... view
NUAK1 p.W305* 12 106461651 106461651 IPC298_SKIN 37 Nonsense_Mutation SNP C T uc001tlj.1 Hybrid_Cap... view
NYNRIN p.Q1084* 14 24884205 24884205 IPC298_SKIN 37 Nonsense_Mutation SNP C T uc001wpf.3 Hybrid_Cap... view
OBSCN p.S5579L 1 228525020 228525020 IPC298_SKIN 37 Missense_Mutation SNP C T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
ODZ1 p.G652E X 123775763 123775763 IPC298_SKIN 37 Missense_Mutation SNP C T uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
OR4E2 p.R226Q 14 22133973 22133973 IPC298_SKIN 37 Missense_Mutation SNP G A uc010tmd.1 Hybrid_Cap... view
P4HB p.A434V 17 79803494 79803495 IPC298_SKIN 37 Missense_Mutation DNP GG AA uc002kbn.1 P4HB_uc002kbl.1... Hybrid_Cap...
P4HB 17 79801787 79801787 IPC298_SKIN 37 3'UTR SNP C T uc002kbn.1 P4HB_uc002kbl.1... Hybrid_Cap... view
PAK7 p.S223L 20 9561114 9561114 IPC298_SKIN 37 Missense_Mutation SNP G A uc002wnl.2 PAK7_uc002wnk.2... Hybrid_Cap... view
PDE4DIP p.Q1665fs 1 144873963 144873963 IPC298_SKIN 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 IPC298_SKIN 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PGGT1B 5 114548071 114548072 IPC298_SKIN 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PIK3C2G 12 18434969 18434969 IPC298_SKIN 37 5'UTR SNP G A uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap... view
PIK3C2G 12 18800990 18800990 IPC298_SKIN 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIM1 6 37141931 37141931 IPC298_SKIN 37 3'UTR SNP C T uc003onk.2 PIM1_uc011dtw.1... Hybrid_Cap... view
PKN1 p.S546F 19 14574763 14574763 IPC298_SKIN 37 Missense_Mutation SNP C T uc002myq.2 PKN1_uc002myp.2... Hybrid_Cap... view
PML 15 74337405 74337405 IPC298_SKIN 37 3'UTR SNP G A uc002awv.2 PML_uc002awu.2_... Hybrid_Cap... view
PPP3CA p.I81N 4 102117090 102117090 IPC298_SKIN 37 Missense_Mutation SNP A T uc011cen.1 PPP3CA_uc003hvu... Hybrid_Cap... view
PRAME p.D392N 22 22890845 22890845 IPC298_SKIN 37 Missense_Mutation SNP C T uc002zwf.2 LOC96610_uc011a... Hybrid_Cap... view
PRKCH p.P612L 14 62014534 62014534 IPC298_SKIN 37 Missense_Mutation SNP C T uc001xfn.2 PRKCH_uc010tsa.... Hybrid_Cap... view
PRKD3 p.M641I 2 37487489 37487489 IPC298_SKIN 37 Missense_Mutation SNP C T uc002rqd.2 PRKD3_uc002rqe.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 IPC298_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKDC p.S1162L 8 48809834 48809834 IPC298_SKIN 37 Missense_Mutation SNP G A uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap... view
PRKG1 10 54053913 54053914 IPC298_SKIN 37 3'UTR Ins - G rs35902208 uc001jjo.2 PRKG1_uc001jjm.... Hybrid_Cap...
PRKG2 p.R259* 4 82090890 82090890 IPC298_SKIN 37 Nonsense_Mutation SNP G A uc003hmh.2 PRKG2_uc011cch.... Hybrid_Cap... view
PRPF4B p.P382S 6 4032895 4032895 IPC298_SKIN 37 Missense_Mutation SNP C T uc003mvv.2 PRPF4B_uc011dhv... Hybrid_Cap... view
PSKH2 p.G33fs 8 87081752 87081753 IPC298_SKIN 37 Frame_Shift_Ins Ins - C uc011lfy.1 Hybrid_Cap...
PSMA4 p.V203A 15 78839017 78839017 IPC298_SKIN 37 Missense_Mutation SNP T C uc002bdu.3 PSMA4_uc010blf.... Hybrid_Cap... view
PTK7 p.A1068V 6 43128585 43128585 IPC298_SKIN 37 Missense_Mutation SNP C T uc011dve.1 PTK7_uc003oub.1... Hybrid_Cap... view
PTPRT p.H867Y 20 40790132 40790132 IPC298_SKIN 37 Missense_Mutation SNP G A uc010ggj.2 PTPRT_uc002xkg.... Hybrid_Cap... view
PXDN p.R1198W 2 1651960 1651960 IPC298_SKIN 37 Missense_Mutation SNP G A uc002qxa.2 Hybrid_Cap... view
PXDN p.E501K 2 1667443 1667443 IPC298_SKIN 37 Missense_Mutation SNP C T uc002qxa.2 PXDN_uc002qxb.1... Hybrid_Cap... view
RALGDS 9 135975496 135975496 IPC298_SKIN 37 Intron SNP G A uc011mcw.1 RALGDS_uc004cct... Hybrid_Cap... view
RALGDS 9 135975800 135975800 IPC298_SKIN 37 Intron SNP G A uc011mcw.1 RALGDS_uc004cct... Hybrid_Cap... view
RNASEL 1 182544334 182544334 IPC298_SKIN 37 3'UTR SNP T A uc001gpj.1 RNASEL_uc009wxz... Hybrid_Cap... view
ROCK2 p.A710V 2 11351881 11351881 IPC298_SKIN 37 Missense_Mutation SNP G A uc002rbd.1 Hybrid_Cap... view
RPS6KA6 X 83319124 83319124 IPC298_SKIN 37 3'UTR SNP T A uc004eej.1 RPS6KA6_uc011mq... Hybrid_Cap... view
RUNX2 p.H393R 6 45514654 45514654 IPC298_SKIN 37 Missense_Mutation SNP A G uc011dvx.1 RUNX2_uc011dvy.... Hybrid_Cap... view
SERPINA12 p.E161K 14 94964254 94964254 IPC298_SKIN 37 Missense_Mutation SNP C T uc001ydj.2 Hybrid_Cap... view
SIK1 p.S221F 21 44840976 44840976 IPC298_SKIN 37 Missense_Mutation SNP G A uc002zdf.2 Hybrid_Cap... view
SORL1 p.S872F 11 121428066 121428066 IPC298_SKIN 37 Missense_Mutation SNP C T uc001pxx.2 Hybrid_Cap... view
SPEG 2 220315752 220315752 IPC298_SKIN 37 Intron SNP C T uc010fwg.2 SPEG_uc002vlm.2... Hybrid_Cap... view
STAG3 p.E513K 7 99796954 99796954 IPC298_SKIN 37 Missense_Mutation SNP G A uc003utx.1 STAG3_uc010lgs.... Hybrid_Cap... view
STK31 7 23872024 23872025 IPC298_SKIN 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAOK2 p.S963F 16 29998460 29998460 IPC298_SKIN 37 Missense_Mutation SNP C T uc010bzm.1 BOLA2_uc010bzb.... Hybrid_Cap... view
TAOK3 p.M877I 12 118588868 118588868 IPC298_SKIN 37 Missense_Mutation SNP C T uc001twx.2 TAOK3_uc001twv.... Hybrid_Cap... view
TEX14 p.R3W 17 56729356 56729356 IPC298_SKIN 37 Missense_Mutation SNP G A uc010dcz.1 TEX14_uc002iwr.... Hybrid_Cap... view
TGFB2 1 218519928 218519929 IPC298_SKIN 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TGS1 8 56685983 56685983 IPC298_SKIN 37 5'UTR SNP C T uc003xsj.3 TMEM68_uc003xsh... Hybrid_Cap... view
TLK1 2 171850178 171850179 IPC298_SKIN 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TLR7 p.E802K X 12906031 12906031 IPC298_SKIN 37 Missense_Mutation SNP G A uc004cvc.2 Hybrid_Cap... view
TMEM123 11 102269398 102269398 IPC298_SKIN 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMEM200A p.P375S 6 130762690 130762690 IPC298_SKIN 37 Missense_Mutation SNP C T uc003qca.2 TMEM200A_uc010k... Hybrid_Cap... view
TMEM200A p.S387F 6 130762727 130762727 IPC298_SKIN 37 Missense_Mutation SNP C T uc003qca.2 TMEM200A_uc010k... Hybrid_Cap... view
TNFRSF11B p.E22K 8 119945506 119945506 IPC298_SKIN 37 Missense_Mutation SNP C T uc003yon.3 TNFRSF11B_uc010... Hybrid_Cap... view
TNNI3K 1 75009700 75009700 IPC298_SKIN 37 3'UTR SNP C T uc001dge.1 TNNI3K_uc001dgf... Hybrid_Cap... view
TP53 p.R213* 17 7578212 7578212 IPC298_SKIN 37 Nonsense_Mutation SNP G A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP53BP1 p.R1663C 15 43707894 43707894 IPC298_SKIN 37 Missense_Mutation SNP G A uc001zrr.3 TP53BP1_uc010ud... Hybrid_Cap... view
TP63 3 189507518 189507519 IPC298_SKIN 37 Intron Ins - AG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPM6 p.M133I 9 77455085 77455085 IPC298_SKIN 37 Missense_Mutation SNP C T uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TRPM7 p.H388R 15 50923655 50923655 IPC298_SKIN 37 Missense_Mutation SNP T C uc001zyt.3 TRPM7_uc010bew.... Hybrid_Cap... view
TRPS1 8 116635872 116635873 IPC298_SKIN 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN p.S11996T 2 179496931 179496931 IPC298_SKIN 37 Missense_Mutation SNP A T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.S4092F 2 179598013 179598013 IPC298_SKIN 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.Y2112N 2 179640257 179640257 IPC298_SKIN 37 Missense_Mutation SNP A T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.P1917S 2 179640842 179640842 IPC298_SKIN 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.P303L 2 179664220 179664220 IPC298_SKIN 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TYRO3 p.I620T 15 41864746 41864746 IPC298_SKIN 37 Missense_Mutation SNP T C uc001zof.1 Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 IPC298_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WHSC1L1 p.A1277G 8 38135861 38135861 IPC298_SKIN 37 Missense_Mutation SNP G C uc003xli.2 WHSC1L1_uc011lb... Hybrid_Cap... view
WHSC1L1 p.Q705_splice 8 38172932 38172932 IPC298_SKIN 37 Splice_Site_SNP SNP A G uc003xli.2 WHSC1L1_uc011lb... Hybrid_Cap... view
WLS p.I371T 1 68613835 68613835 IPC298_SKIN 37 Missense_Mutation SNP A G uc001dee.2 WLS_uc001def.1_... Hybrid_Cap... view
XPO4 p.L499F 13 21382717 21382717 IPC298_SKIN 37 Missense_Mutation SNP T A uc001unq.3 Hybrid_Cap... view