Annotation Summary for Cell Line: C32  

Cell line primary name: C32
Cell line aliases:
Gender: M
Site Primary: skin
Histology: malignant_melanoma
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_F07_296122
SNP arrays: ARLES_p_NCLE_DNAAffy2_S_GenomeWideSNP_6_B03_256030
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in C32

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 C32_SKIN 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 C32_SKIN 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AIM1 p.T1436del 6 107001383 107001385 C32_SKIN 37 In_Frame_Del Del AAC - uc003prh.2 AIM1_uc003pri.2... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 C32_SKIN 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 C32_SKIN 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKAP9 7 91670318 91670319 C32_SKIN 37 Intron Ins - T rs66490357 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ARHGDIB 12 15095367 15095367 C32_SKIN 37 3'UTR SNP C A uc001rcq.1 ARHGDIB_uc001rc... Hybrid_Cap... view
AXIN1 p.R349H 16 360043 360043 C32_SKIN 37 Missense_Mutation SNP C T rs36045489 uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap... view
BCR 22 23631813 23631814 C32_SKIN 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 C32_SKIN 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BRAF p.V600E 7 140453136 140453136 C32_SKIN 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
CACNB2 p.R478C 10 18827238 18827238 C32_SKIN 37 Missense_Mutation SNP C T uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap... view
CDK17 12 96674483 96674483 C32_SKIN 37 Intron SNP T C uc001tep.1 CDK17_uc009ztk.... Hybrid_Cap... view
CDKN2A 9 21968072 21968072 C32_SKIN 37 3'UTR SNP C G uc003zpl.2 MTAP_uc003zpi.1... Hybrid_Cap... view
CDKN2A 9 21968229 21968229 C32_SKIN 37 3'UTR SNP C G uc003zpl.2 MTAP_uc003zpi.1... Hybrid_Cap... view
CHEK2 p.L464fs 22 29091227 29091227 C32_SKIN 37 Frame_Shift_Del Del A - uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap...
CYLD 16 50830558 50830558 C32_SKIN 37 3'UTR SNP G A uc002egp.1 CYLD_uc002egq.1... Hybrid_Cap... view
CYP19A1 15 51502996 51502996 C32_SKIN 37 3'UTR SNP C A uc001zyz.3 CYP19A1_uc001zz... Hybrid_Cap... view
DACH1 13 72014625 72014626 C32_SKIN 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DCLK1 13 36348689 36348689 C32_SKIN 37 3'UTR SNP G A uc001uvf.2 DCLK1_uc001uve.... Hybrid_Cap... view
DRD2 11 113284958 113284958 C32_SKIN 37 Intron SNP T C uc001pnz.2 DRD2_uc010rwv.1... Hybrid_Cap... view
DST p.P4606L 6 56362226 56362226 C32_SKIN 37 Missense_Mutation SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EPHA6 3 97367230 97367231 C32_SKIN 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 C32_SKIN 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 C32_SKIN 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 C32_SKIN 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 C32_SKIN 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNA p.Y1622Y X 153585881 153585881 C32_SKIN 37 Silent SNP G A uc004fkk.2 FLNA_uc011mzn.1... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 C32_SKIN 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 C32_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
HIF1A 14 62213929 62213930 C32_SKIN 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 C32_SKIN 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
HSPA4 p.L284F 5 132412532 132412532 C32_SKIN 37 Missense_Mutation SNP C T uc003kyj.2 Hybrid_Cap... view
IDH1 2 209116293 209116293 C32_SKIN 37 Splice_Site_SNP SNP T A uc002vcs.2 IDH1_uc002vct.2... Hybrid_Cap... view
ILK 11 6630029 6630029 C32_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 C32_SKIN 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 C32_SKIN 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMA1 p.R1862K 18 6985311 6985311 C32_SKIN 37 Missense_Mutation SNP C T uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LCP1 p.A250V 13 46725204 46725204 C32_SKIN 37 Missense_Mutation SNP G A uc001vaz.3 LCP1_uc001vba.3... Hybrid_Cap... view
LRP2 p.Y523F 2 170134459 170134459 C32_SKIN 37 Missense_Mutation SNP T A uc002ues.2 LRP2_uc010zdf.1... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 C32_SKIN 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 C32_SKIN 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 C32_SKIN 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 C32_SKIN 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 15 42111753 42111754 C32_SKIN 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MLL p.E3875K 11 118392112 118392112 C32_SKIN 37 Missense_Mutation SNP G A uc001ptb.2 MLL_uc001pta.2_... Hybrid_Cap... view
MTOR p.R1612Q 1 11204742 11204742 C32_SKIN 37 Missense_Mutation SNP C T uc001asd.2 Hybrid_Cap... view
MYLK 3 123332875 123332876 C32_SKIN 37 3'UTR Ins - TT rs35930843;rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYST2 p.L434F 17 47899068 47899068 C32_SKIN 37 Missense_Mutation SNP A T uc002ipm.2 MYST2_uc002ipl.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 C32_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 C32_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 C32_SKIN 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK9 14 75572824 75572824 C32_SKIN 37 Intron SNP C T uc001xrl.2 NEK9_uc001xrk.2... Hybrid_Cap... view
NLRP1 p.E724K 17 5461846 5461846 C32_SKIN 37 Missense_Mutation SNP C T uc002gci.2 NLRP1_uc002gcg.... Hybrid_Cap... view
NOTCH4 p.15_16LL>L 6 32191659 32191661 C32_SKIN 37 In_Frame_Del Del AGC - uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 C32_SKIN 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR3C1 5 142780419 142780419 C32_SKIN 37 Splice_Site_SNP SNP T A uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap... view
NUAK2 1 205290814 205290814 C32_SKIN 37 5'UTR SNP T C uc001hce.2 Hybrid_Cap... view
NUMA1 p.N265K 11 71729507 71729507 C32_SKIN 37 Missense_Mutation SNP A T uc001orl.1 NUMA1_uc009ysw.... Hybrid_Cap... view
PAK7 p.P342H 20 9546997 9546997 C32_SKIN 37 Missense_Mutation SNP G T uc002wnl.2 PAK7_uc002wnk.2... Hybrid_Cap... view
PAX3 2 223158653 223158653 C32_SKIN 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 C32_SKIN 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 C32_SKIN 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRA 4 55131001 55131002 C32_SKIN 37 Intron Ins - A rs71823029 uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PDGFRB p.D166D 5 149514446 149514446 C32_SKIN 37 Silent SNP G A uc003lro.2 PDGFRB_uc010jhd... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 C32_SKIN 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3CB p.G974R 3 138376554 138376554 C32_SKIN 37 Missense_Mutation SNP C T uc011bmq.1 PIK3CB_uc011bmn... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 C32_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTCH2 p.H622N 1 45293709 45293709 C32_SKIN 37 Missense_Mutation SNP G T rs11573586 uc010olf.1 PTCH2_uc010olg.... Hybrid_Cap... view
RASGRF1 15 79277150 79277151 C32_SKIN 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
ROBO1 3 78763783 78763783 C32_SKIN 37 Intron SNP T A uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap... view
ROS1 p.G631R 6 117709066 117709066 C32_SKIN 37 Missense_Mutation SNP C T uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 C32_SKIN 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SKP2 5 36152334 36152334 C32_SKIN 37 De_novo_Start_OutOfFrame SNP C T uc003jkc.1 SKP2_uc011cou.1... Hybrid_Cap... view
SP140 2 231177558 231177558 C32_SKIN 37 3'UTR SNP G A uc002vql.2 SP140_uc010zma.... Hybrid_Cap... view
SPTAN1 p.R1849W 9 131380332 131380332 C32_SKIN 37 Missense_Mutation SNP C T uc004bvm.3 SPTAN1_uc004bvl... Hybrid_Cap... view
STAT3 17 40467855 40467855 C32_SKIN 37 Intron SNP C T uc002hzl.1 STAT3_uc002hzk.... Hybrid_Cap... view
STK24 13 99174173 99174173 C32_SKIN 37 5'UTR SNP C T uc001vnm.1 STK24_uc001vnn.... Hybrid_Cap... view
STK31 p.P708L 7 23823257 23823257 C32_SKIN 37 Missense_Mutation SNP C T uc003sws.3 STK31_uc003swt.... Hybrid_Cap... view
STK31 7 23872024 23872025 C32_SKIN 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TMEM123 11 102269398 102269398 C32_SKIN 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNFRSF17 p.H142L 16 12061574 12061574 C32_SKIN 37 Missense_Mutation SNP A T uc002dbv.2 TNFRSF17_uc010b... Hybrid_Cap... view
TP63 3 189507518 189507519 C32_SKIN 37 Intron Ins - AG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM36 5 114515818 114515818 C32_SKIN 37 5'UTR SNP T A uc003kqs.2 TRIM36_uc003kqt... Hybrid_Cap... view
TSC1 9 135785932 135785932 C32_SKIN 37 Intron SNP G A uc004cca.2 TSC1_uc004ccb.3... Hybrid_Cap... view
TTN 2 179391639 179391640 C32_SKIN 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.E28093K 2 179414468 179414468 C32_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.W18548* 2 179452786 179452786 C32_SKIN 37 Nonsense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E14696K 2 179474247 179474247 C32_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E12719K 2 179485478 179485478 C32_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UBE3B 12 109972608 109972609 C32_SKIN 37 3'UTR DNP CC TT uc001top.2 UBE3B_uc001toq.... Hybrid_Cap...
ULK2 p.L467F 17 19705132 19705132 C32_SKIN 37 Missense_Mutation SNP G A uc002gwm.3 ULK2_uc002gwn.2... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 C32_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...