Annotation Summary for Cell Line: A2058  

Cell line primary name: A2058
Cell line aliases:
Gender: M
Site Primary: skin
Histology: malignant_melanoma
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: GAZER_p_NCLE_Expr_P13_HG-U133_Plus_2_C11_779802
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_H12_246800
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in A2058

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
AIFM1 p.V460G X 129267357 129267357 A2058_SKIN 37 Missense_Mutation SNP A C uc004evg.2 AIFM1_uc011mur.... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 A2058_SKIN 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 A2058_SKIN 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
BRAF p.V600E 7 140453136 140453136 A2058_SKIN 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
BRCA2 p.P110P 13 32899226 32899226 A2058_SKIN 37 Silent SNP C T uc001uub.1 BRCA2_uc001uua.... Hybrid_Cap... view
CACNB2 p.A46D 10 18439828 18439828 A2058_SKIN 37 Missense_Mutation SNP C A uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap... view
CAMK2A 5 149602223 149602224 A2058_SKIN 37 3'UTR Del AC - uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap...
CCNB1IP1 p.P248R 14 20779800 20779800 A2058_SKIN 37 Missense_Mutation SNP G C uc001vwv.2 CCNB1IP1_uc001v... Hybrid_Cap... view
CDK18 1 205492432 205492432 A2058_SKIN 37 Intron SNP G A uc001hcr.2 CDK18_uc009xbk.... Hybrid_Cap... view
CHD5 p.D1358N 1 6186638 6186638 A2058_SKIN 37 Missense_Mutation SNP C T uc001amb.1 CHD5_uc001alz.1... Hybrid_Cap... view
CIT p.V903_splice 12 120190054 120190055 A2058_SKIN 37 Splice_Site_Ins Ins - GA uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 A2058_SKIN 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 A2058_SKIN 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CTBP1 p.E41K 4 1232045 1232045 A2058_SKIN 37 Missense_Mutation SNP C T uc003gcv.1 CTBP1_uc003gct.... Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 A2058_SKIN 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CXCR2 p.D94N 2 218999804 218999804 A2058_SKIN 37 Missense_Mutation SNP G A uc002vgz.1 CXCR2_uc002vha.... Hybrid_Cap... view
DNAH8 6 38952112 38952112 A2058_SKIN 37 Intron SNP G A uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap... view
EPHA5 p.R844K 4 66213902 66213902 A2058_SKIN 37 Missense_Mutation SNP C T uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
ETV1 7 14028708 14028708 A2058_SKIN 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 A2058_SKIN 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
GRIA3 X 122318386 122318387 A2058_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
ILK 11 6630029 6630029 A2058_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 A2058_SKIN 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIAA2022 p.E1460D X 73960012 73960012 A2058_SKIN 37 Missense_Mutation SNP C G uc004eby.2 Hybrid_Cap... view
LIFR p.D922G 5 38482226 38482226 A2058_SKIN 37 Missense_Mutation SNP T C uc010ive.1 LIFR_uc003jli.2... Hybrid_Cap... view
MAF p.V271K 16 79632988 79632989 A2058_SKIN 37 Missense_Mutation DNP AC TT uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 A2058_SKIN 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 A2058_SKIN 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 p.P124S 15 66729162 66729162 A2058_SKIN 37 Missense_Mutation SNP C T uc010bhq.2 MAP2K1_uc010ujp... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 A2058_SKIN 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 A2058_SKIN 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K4 p.A1199del 6 161519351 161519353 A2058_SKIN 37 In_Frame_Del Del CTG - uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap...
MARK3 p.K180R 14 103928797 103928797 A2058_SKIN 37 Missense_Mutation SNP A G uc001ymz.3 MARK3_uc001ymx.... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 A2058_SKIN 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MSH5 p.S302G 6 31721118 31721118 A2058_SKIN 37 Missense_Mutation SNP A G uc003nwt.1 MSH5_uc003nwu.1... Hybrid_Cap... view
NCAM1 11 112832307 112832308 A2058_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 A2058_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NFIA 1 61921185 61921186 A2058_SKIN 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 A2058_SKIN 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OBSCN p.A6988fs 1 228559442 228559442 A2058_SKIN 37 Frame_Shift_Del Del C - uc009xez.1 OBSCN_uc001hsr.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 A2058_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 10 52751088 52751089 A2058_SKIN 37 5'UTR Ins - GCT rs67900156;rs71029335 uc001jjm.2 PRKG1_uc010qhp.... Hybrid_Cap...
PTEN p.L112Q 10 89692851 89692851 A2058_SKIN 37 Missense_Mutation SNP T A uc001kfb.2 Hybrid_Cap... view
RABEP1 p.K683I 17 5280433 5280433 A2058_SKIN 37 Missense_Mutation SNP A T uc002gbm.3 RABEP1_uc010clc... Hybrid_Cap... view
RASA3 p.P70L 13 114817595 114817595 A2058_SKIN 37 Missense_Mutation SNP G A uc001vui.2 RASA3_uc010tkk.... Hybrid_Cap... view
RASGRF1 p.K609_splice 15 79304870 79304870 A2058_SKIN 37 Splice_Site_SNP SNP C T uc002beq.2 RASGRF1_uc002be... Hybrid_Cap... view
RB1 p.Q93* 13 48916747 48916747 A2058_SKIN 37 Nonsense_Mutation SNP C T uc001vcb.2 RB1_uc010acs.1_... Hybrid_Cap... view
RHEB p.D65_splice 7 151174502 151174502 A2058_SKIN 37 Splice_Site_SNP SNP C T uc003wkh.1 Hybrid_Cap... view
RNASEL p.P85L 1 182555688 182555688 A2058_SKIN 37 Missense_Mutation SNP G A uc001gpj.1 RNASEL_uc009wxz... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 A2058_SKIN 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 A2058_SKIN 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SLC14A1 p.P419T 18 43329833 43329833 A2058_SKIN 37 Missense_Mutation SNP C A uc010dnk.2 SLC14A1_uc010xc... Hybrid_Cap... view
STK17B p.R355C 2 197002227 197002227 A2058_SKIN 37 Missense_Mutation SNP G A uc002utk.2 STK17B_uc010fsh... Hybrid_Cap... view
STK32A 5 146728339 146728339 A2058_SKIN 37 Intron SNP C T uc011dbw.1 STK32A_uc003lol... Hybrid_Cap... view
STRADA p.N109S 17 61790788 61790788 A2058_SKIN 37 Missense_Mutation SNP T C uc002jbm.2 STRADA_uc002jbn... Hybrid_Cap... view
SYK p.G578E 9 93650807 93650807 A2058_SKIN 37 Missense_Mutation SNP G A uc004aqz.2 SYK_uc004ara.2_... Hybrid_Cap... view
TAF1L p.D1568E 9 32630874 32630874 A2058_SKIN 37 Missense_Mutation SNP A T uc003zrg.1 Hybrid_Cap... view
TMPO p.A240T 12 98926753 98926753 A2058_SKIN 37 Missense_Mutation SNP G A uc001tfh.1 TMPO_uc001tfi.1... Hybrid_Cap... view
TNN p.P1155L 1 175105993 175105993 A2058_SKIN 37 Missense_Mutation SNP C T uc001gkl.1 Hybrid_Cap... view
TNNI3K p.Q437K 1 74819023 74819023 A2058_SKIN 37 Missense_Mutation SNP C A uc001dge.1 TNNI3K_uc001dgc... Hybrid_Cap... view
TP53 p.V274F 17 7577118 7577118 A2058_SKIN 37 Missense_Mutation SNP C A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 A2058_SKIN 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TP63 p.R379C 3 189587118 189587118 A2058_SKIN 37 Missense_Mutation SNP C T uc003fry.2 TP63_uc003frx.2... Hybrid_Cap... view
TRIM24 p.Q520E 7 138252253 138252253 A2058_SKIN 37 Missense_Mutation SNP C G uc003vuc.2 TRIM24_uc003vub... Hybrid_Cap... view
TRIM33 1 114940215 114940216 A2058_SKIN 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TSSK2 p.E60K 22 19119089 19119090 A2058_SKIN 37 Missense_Mutation DNP GG AA uc002zow.2 DGCR14_uc002zot... Hybrid_Cap...
TTN p.R31193W 2 179400061 179400061 A2058_SKIN 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.W13110* 2 179483151 179483151 A2058_SKIN 37 Nonsense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.K9059* 2 179560892 179560892 A2058_SKIN 37 Nonsense_Mutation SNP T A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 A2058_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...