Annotation Summary for Cell Line: SK-MEL-30  

Cell line primary name: SK-MEL-30
Cell line aliases:
Gender: M
Site Primary: skin
Histology: malignant_melanoma
Hist Subtype1: NS
Notes:
Source: DSMZ
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_F04_296116
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_F05_246738
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SK-MEL-30

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 SKMEL30_SKIN 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 p.G650R 8 24201055 24201055 SKMEL30_SKIN 37 Missense_Mutation SNP G A uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap... view
ADAM28 8 24211994 24211997 SKMEL30_SKIN 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM32 8 39079011 39079012 SKMEL30_SKIN 37 Intron Ins - A uc003xmt.3 ADAM32_uc011lch... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 SKMEL30_SKIN 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALK p.P279L 2 29917832 29917832 SKMEL30_SKIN 37 Missense_Mutation SNP G A uc002rmy.2 Hybrid_Cap... view
ALPK1 4 113347609 113347610 SKMEL30_SKIN 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
APC p.G1339R 5 112175306 112175306 SKMEL30_SKIN 37 Missense_Mutation SNP G C uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.Q1406* 5 112175507 112175507 SKMEL30_SKIN 37 Nonsense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
BAI3 p.R1151W 6 70049388 70049388 SKMEL30_SKIN 37 Missense_Mutation SNP C T uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BLM p.S499F 15 91304099 91304099 SKMEL30_SKIN 37 Missense_Mutation SNP C T uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
BMPR1B p.S190L 4 96046256 96046256 SKMEL30_SKIN 37 Missense_Mutation SNP C T uc003htm.3 BMPR1B_uc010ilb... Hybrid_Cap... view
BRAF p.D287H 7 140501213 140501213 SKMEL30_SKIN 37 Missense_Mutation SNP C G uc003vwc.3 Hybrid_Cap... view
BRAF p.E275K 7 140501249 140501249 SKMEL30_SKIN 37 Missense_Mutation SNP C T uc003vwc.3 Hybrid_Cap... view
CABC1 p.L316F 1 227170601 227170601 SKMEL30_SKIN 37 Missense_Mutation SNP C T uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap... view
CARD10 p.KE272del 22 37906309 37906314 SKMEL30_SKIN 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CDK11B 1 1654066 1654068 SKMEL30_SKIN 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 SKMEL30_SKIN 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 SKMEL30_SKIN 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL1A1 p.G710D 17 48268850 48268850 SKMEL30_SKIN 37 Missense_Mutation SNP C T uc002iqm.2 Hybrid_Cap... view
CPAMD8 p.S520fs 19 17091475 17091475 SKMEL30_SKIN 37 Frame_Shift_Del Del A - uc002nfb.2 Hybrid_Cap...
CSMD3 p.E1692K 8 113516028 113516028 SKMEL30_SKIN 37 Missense_Mutation SNP C T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CXCL12 10 44873992 44873993 SKMEL30_SKIN 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
EPHA6 3 97367230 97367231 SKMEL30_SKIN 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 SKMEL30_SKIN 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 SKMEL30_SKIN 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FMN2 p.E846K 1 240370636 240370636 SKMEL30_SKIN 37 Missense_Mutation SNP G A uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap... view
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 SKMEL30_SKIN 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
GRIA3 X 122318386 122318387 SKMEL30_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GSG2 p.G304W 17 3628139 3628139 SKMEL30_SKIN 37 Missense_Mutation SNP G T uc002fwp.2 ITGAE_uc002fwo.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 SKMEL30_SKIN 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 SKMEL30_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.T84I 12 26878610 26878611 SKMEL30_SKIN 37 Missense_Mutation DNP GG AA uc001rhg.2 ITPR2_uc001rhh.... Hybrid_Cap...
KDR p.I915V 4 55961818 55961818 SKMEL30_SKIN 37 Missense_Mutation SNP T C uc003has.2 KDR_uc003hat.1_... Hybrid_Cap... view
LIF 22 30639608 30639608 SKMEL30_SKIN 37 3'UTR SNP C T uc003agz.2 LIF_uc011aks.1_... Hybrid_Cap... view
LRP1B p.D3344E 2 141208162 141208162 SKMEL30_SKIN 37 Missense_Mutation SNP A T uc002tvj.1 Hybrid_Cap... view
MAF 16 79628325 79628325 SKMEL30_SKIN 37 3'UTR Del A - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 SKMEL30_SKIN 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SKMEL30_SKIN 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K4 p.W506* 6 161470821 161470821 SKMEL30_SKIN 37 Nonsense_Mutation SNP G A uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap... view
MAPK14 6 36076345 36076354 SKMEL30_SKIN 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 SKMEL30_SKIN 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 p.P1063L 15 42114561 42114561 SKMEL30_SKIN 37 Missense_Mutation SNP C T uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap... view
MLL3 p.Y816fs 7 151945071 151945072 SKMEL30_SKIN 37 Frame_Shift_Ins Ins - T uc003wla.2 Hybrid_Cap...
MMP2 p.R385C 16 55523709 55523709 SKMEL30_SKIN 37 Missense_Mutation SNP C T uc002ehz.3 MMP2_uc010vhd.1... Hybrid_Cap... view
MSH2 2 47710171 47710171 SKMEL30_SKIN 37 Intron SNP C T uc002rvz.2 MSH2_uc010yoh.1... Hybrid_Cap... view
MYO18B p.R409R 22 26165110 26165110 SKMEL30_SKIN 37 Silent SNP G A uc003abz.1 MYO18B_uc003aca... Hybrid_Cap... view
MYST3 p.P334L 8 41836202 41836202 SKMEL30_SKIN 37 Missense_Mutation SNP G A uc010lxb.2 MYST3_uc010lxc.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 SKMEL30_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SKMEL30_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK10 p.V136I 3 27233555 27233555 SKMEL30_SKIN 37 Missense_Mutation SNP C T uc010hfk.2 NEK10_uc003cds.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 SKMEL30_SKIN 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFKBIA 14 35871136 35871138 SKMEL30_SKIN 37 3'UTR Del TTC - rs112369437 uc001wtf.3 NFKBIA_uc001wte... Hybrid_Cap...
NLRP10 11 7985059 7985059 SKMEL30_SKIN 37 5'UTR SNP G A uc001mfv.1 Hybrid_Cap... view
NOTCH1 p.R2549C 9 139390546 139390546 SKMEL30_SKIN 37 Missense_Mutation SNP G A uc004chz.2 Hybrid_Cap... view
NRAS p.Q61K 1 115256530 115256531 SKMEL30_SKIN 37 Missense_Mutation DNP GT TA uc009wgu.2 Hybrid_Cap...
PAX3 2 223066017 223066018 SKMEL30_SKIN 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 SKMEL30_SKIN 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDZRN4 12 41831735 41831735 SKMEL30_SKIN 37 Intron SNP C G uc010skn.1 PDZRN4_uc001rmq... Hybrid_Cap... view
PGGT1B 5 114548071 114548072 SKMEL30_SKIN 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 SKMEL30_SKIN 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C3 p.K177E 18 39550418 39550418 SKMEL30_SKIN 37 Missense_Mutation SNP A G uc002lap.2 PIK3C3_uc010xcl... Hybrid_Cap... view
PRKCQ 10 6470135 6470136 SKMEL30_SKIN 37 3'UTR DNP GG AA uc001iji.1 PRKCQ_uc009xim.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 SKMEL30_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRRX1 p.S200N 1 170695542 170695542 SKMEL30_SKIN 37 Missense_Mutation SNP G A uc001ghf.2 PRRX1_uc001ghe.... Hybrid_Cap... view
RABEP1 p.D320E 17 5253921 5253921 SKMEL30_SKIN 37 Missense_Mutation SNP T G uc002gbm.3 RABEP1_uc010clc... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 SKMEL30_SKIN 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
ROBO2 p.G965R 3 77651387 77651387 SKMEL30_SKIN 37 Missense_Mutation SNP G A uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap... view
RPGRIP1 p.T516T 14 21789498 21789498 SKMEL30_SKIN 37 Silent SNP A G uc001wag.2 RPGRIP1_uc001wa... Hybrid_Cap... view
SGK269 p.S1735F 15 77406535 77406535 SKMEL30_SKIN 37 Missense_Mutation SNP G A uc002bcm.2 Hybrid_Cap... view
SPEG p.R3172Q 2 220356886 220356887 SKMEL30_SKIN 37 Missense_Mutation DNP GG AA uc010fwg.2 Hybrid_Cap...
SPEN p.P1311S 1 16256666 16256666 SKMEL30_SKIN 37 Missense_Mutation SNP C T uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap... view
STK31 7 23872024 23872025 SKMEL30_SKIN 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TCF12 p.S118F 15 57458627 57458627 SKMEL30_SKIN 37 Missense_Mutation SNP C T uc002aea.2 TCF12_uc010ugm.... Hybrid_Cap... view
TNK2 p.P435S 3 195605364 195605364 SKMEL30_SKIN 37 Missense_Mutation SNP G A uc003fvt.1 TNK2_uc003fvs.1... Hybrid_Cap... view
TP53 p.T284fs 17 7577086 7577087 SKMEL30_SKIN 37 Frame_Shift_Del Del TG - uc002gim.2 TP53_uc002gig.1... Hybrid_Cap...
TPR p.2044_2045AA>A 1 186292981 186292983 SKMEL30_SKIN 37 In_Frame_Del Del GCA - uc001grv.2 Hybrid_Cap...
TRIM33 1 114940201 114940201 SKMEL30_SKIN 37 3'UTR SNP G A uc001eew.2 TRIM33_uc010owr... Hybrid_Cap... view
TRPS1 p.N537S 8 116616586 116616586 SKMEL30_SKIN 37 Missense_Mutation SNP T C uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap... view
TRPS1 8 116635872 116635873 SKMEL30_SKIN 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN p.D24643N 2 179429228 179429228 SKMEL30_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E10164K 2 179542417 179542417 SKMEL30_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E10146K 2 179542471 179542471 SKMEL30_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R6197Q 2 179587192 179587192 SKMEL30_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.T71F 2 179666948 179666949 SKMEL30_SKIN 37 Missense_Mutation DNP GT AA uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 SKMEL30_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...