Annotation Summary for Cell Line: SNU-475  

Cell line primary name: SNU-475
Cell line aliases: NCI-SNU-475
Gender: M
Site Primary: liver
Histology: carcinoma
Hist Subtype1: hepatocellular_carcinoma
Notes:
Source: ATCC
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_H11_383774
SNP arrays: LOBBY_p_NCLE_DNAAffy6_GenomeWideSNP_6_A12_437330
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SNU-475

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 SNU475_LIVER 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCA3 p.L39V 16 2376215 2376215 SNU475_LIVER 37 Missense_Mutation SNP G C uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ABI1 10 27037488 27037488 SNU475_LIVER 37 3'UTR Del A - rs75446996 uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap...
ACACB p.L759V 12 109629548 109629548 SNU475_LIVER 37 Missense_Mutation SNP C G uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ACVR1B 12 52380975 52380978 SNU475_LIVER 37 Intron Del AAAC - uc010snn.1 ACVR1B_uc001rzl... Hybrid_Cap...
ACVR2A p.A151V 2 148657391 148657391 SNU475_LIVER 37 Missense_Mutation SNP C T uc002twg.2 ACVR2A_uc010zbn... Hybrid_Cap... view
ADAM10 p.G168D 15 58957378 58957378 SNU475_LIVER 37 Missense_Mutation SNP C T uc002afd.1 ADAM10_uc010bgc... Hybrid_Cap... view
ADAM28 8 24211994 24211997 SNU475_LIVER 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADARB2 p.A44S 10 1421326 1421326 SNU475_LIVER 37 Missense_Mutation SNP C A rs3793733 uc009xhq.2 Hybrid_Cap... view
ADCK1 14 78390632 78390637 SNU475_LIVER 37 Intron Del AAACT... - rs78274857;rs74969652 uc001xui.2 ADCK1_uc010tvo.... Hybrid_Cap...
AIM1 p.R783C 6 106968654 106968654 SNU475_LIVER 37 Missense_Mutation SNP C T uc003prh.2 Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 SNU475_LIVER 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 SNU475_LIVER 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ASPH p.A264_splice 8 62550924 62550925 SNU475_LIVER 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ASPH p.D254V 8 62555476 62555476 SNU475_LIVER 37 Missense_Mutation SNP T A uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap... view
AURKC 19 57742494 57742507 SNU475_LIVER 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCL3 19 45262965 45262965 SNU475_LIVER 37 3'UTR Del C - uc010xxe.1 Hybrid_Cap...
C15ORF2 p.A776S 15 24923340 24923340 SNU475_LIVER 37 Missense_Mutation SNP G T uc001ywo.2 Hybrid_Cap... view
CD44 p.M709R 11 35250777 35250777 SNU475_LIVER 37 Missense_Mutation SNP T G uc001mvu.2 CD44_uc001mvv.2... Hybrid_Cap... view
CDK11B 1 1654066 1654068 SNU475_LIVER 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDKN2C p.D67E 1 51439636 51439636 SNU475_LIVER 37 Missense_Mutation SNP C A uc001csf.2 CDKN2C_uc001csg... Hybrid_Cap... view
CIC p.P575R 19 42794644 42794644 SNU475_LIVER 37 Missense_Mutation SNP C G uc002otf.1 Hybrid_Cap... view
CPAMD8 p.Y671H 19 17086850 17086850 SNU475_LIVER 37 Missense_Mutation SNP A G uc002nfb.2 Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 SNU475_LIVER 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 SNU475_LIVER 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CTNNA2 p.A106T 2 80085156 80085156 SNU475_LIVER 37 Missense_Mutation SNP G A uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
DGKB 7 14216330 14216332 SNU475_LIVER 37 Intron Del AAC - uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DNAH8 p.A46E 6 38704868 38704868 SNU475_LIVER 37 Missense_Mutation SNP C A uc003ooe.1 Hybrid_Cap... view
DNAH8 p.D1976N 6 38834445 38834445 SNU475_LIVER 37 Missense_Mutation SNP G A uc003ooe.1 Hybrid_Cap... view
DUSP6 12 89746060 89746060 SNU475_LIVER 37 5'UTR SNP A G uc001tay.2 DUSP6_uc001taz.... Hybrid_Cap... view
ERN2 p.T105R 16 23722263 23722263 SNU475_LIVER 37 Missense_Mutation SNP G C uc002dma.3 ERN2_uc010bxp.2... Hybrid_Cap... view
ETV1 7 14028708 14028708 SNU475_LIVER 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FAM132A 1 1177919 1177919 SNU475_LIVER 37 3'UTR Del T - uc001adl.1 Hybrid_Cap...
FGFR1OP 6 167453519 167453520 SNU475_LIVER 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 SNU475_LIVER 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 SNU475_LIVER 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT3 p.T432M 13 28611336 28611336 SNU475_LIVER 37 Missense_Mutation SNP G A uc001urw.2 FLT3_uc010aao.2... Hybrid_Cap... view
FN1 2 216244182 216244185 SNU475_LIVER 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 SNU475_LIVER 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GAS7 p.65_66MV>IF 17 9923202 9923203 SNU475_LIVER 37 Missense_Mutation DNP CC AA uc002gmg.1 GAS7_uc010vvd.1... Hybrid_Cap...
GLI3 p.Y122N 7 42187828 42187828 SNU475_LIVER 37 Missense_Mutation SNP A T uc011kbh.1 GLI3_uc011kbg.1... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 SNU475_LIVER 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRB7 p.R383C 17 37901729 37901729 SNU475_LIVER 37 Missense_Mutation SNP C T uc002hsr.2 GRB7_uc002hss.2... Hybrid_Cap... view
GRIA3 X 122318386 122318387 SNU475_LIVER 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GSG2 p.S179T 17 3627764 3627764 SNU475_LIVER 37 Missense_Mutation SNP T A uc002fwp.2 ITGAE_uc002fwo.... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 SNU475_LIVER 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HERC2 p.A4322S 15 28370178 28370178 SNU475_LIVER 37 Missense_Mutation SNP C A uc001zbj.2 Hybrid_Cap... view
HNF1A 12 121434630 121434631 SNU475_LIVER 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSPA1B 6 31797769 31797770 SNU475_LIVER 37 3'UTR Ins - AAGTT rs67206812 uc003nxk.2 Hybrid_Cap...
IFNB1 9 21077905 21077905 SNU475_LIVER 37 5'UTR SNP T A uc003zok.2 Hybrid_Cap... view
IL21R 16 27460779 27460780 SNU475_LIVER 37 3'UTR Ins - TG rs66690088 uc002doq.1 IL21R_uc002dor.... Hybrid_Cap...
IL6ST p.I336T 5 55253086 55253086 SNU475_LIVER 37 Missense_Mutation SNP A G uc003jqq.2 IL6ST_uc010iwb.... Hybrid_Cap... view
ILK 11 6630029 6630029 SNU475_LIVER 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INSRR p.Q556H 1 156816453 156816453 SNU475_LIVER 37 Missense_Mutation SNP C G uc010pht.1 NTRK1_uc001fqf.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 SNU475_LIVER 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIAA1804 p.R892W 1 233515426 233515426 SNU475_LIVER 37 Missense_Mutation SNP C T rs55681416 uc001hvt.3 KIAA1804_uc001h... Hybrid_Cap... view
KLK7 19 51480672 51480675 SNU475_LIVER 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMA1 p.G919R 18 7017330 7017330 SNU475_LIVER 37 Missense_Mutation SNP C G uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LAMP1 p.T105M 13 113964088 113964088 SNU475_LIVER 37 Missense_Mutation SNP C T uc001vtm.1 LAMP1_uc010tka.... Hybrid_Cap... view
LRRK1 15 101529685 101529685 SNU475_LIVER 37 Intron SNP A G uc002bwr.2 LRRK1_uc010usb.... Hybrid_Cap... view
LTK 15 41806076 41806076 SNU475_LIVER 37 5'UTR SNP C G uc001zoa.3 LTK_uc001zob.3_... Hybrid_Cap... view
MAF 16 79628537 79628537 SNU475_LIVER 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 SNU475_LIVER 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 SNU475_LIVER 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP2K6 17 67516353 67516353 SNU475_LIVER 37 Intron SNP A T rs77138194 uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 SNU475_LIVER 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K13 p.A604T 3 185190929 185190929 SNU475_LIVER 37 Missense_Mutation SNP G A uc010hyf.2 MAP3K13_uc011br... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 SNU475_LIVER 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K4 p.G538G 6 161470918 161470918 SNU475_LIVER 37 Silent SNP G A uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap... view
MAP3K5 6 136878752 136878752 SNU475_LIVER 37 3'UTR Del T - rs79903899 uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap...
MITF p.K503fs 3 70014343 70014343 SNU475_LIVER 37 Frame_Shift_Del Del A - uc003dnz.2 MITF_uc011bgb.1... Hybrid_Cap...
MKRN3 p.S144R 15 23811361 23811361 SNU475_LIVER 37 Missense_Mutation SNP C A uc001ywh.3 MKRN3_uc001ywi.... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 SNU475_LIVER 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
NBN p.L135V 8 90993039 90993039 SNU475_LIVER 37 Missense_Mutation SNP G C uc003yej.1 NBN_uc003yei.1_... Hybrid_Cap... view
NCAM1 11 112832307 112832308 SNU475_LIVER 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SNU475_LIVER 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279864 46279866 SNU475_LIVER 37 In_Frame_Del Del CAA - rs1132443;rs28529067 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SNU475_LIVER 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NF1 p.K2456K 17 29677247 29677247 SNU475_LIVER 37 Silent SNP A G uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NOTCH4 p.T104I 6 32190428 32190428 SNU475_LIVER 37 Missense_Mutation SNP G A uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap... view
NPM1 5 170837734 170837734 SNU475_LIVER 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 SNU475_LIVER 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 SNU475_LIVER 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SNU475_LIVER 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OBSCN 1 228566506 228566506 SNU475_LIVER 37 3'UTR SNP C G uc009xez.1 OBSCN_uc001hsr.... Hybrid_Cap... view
PCSK7 p.R711W 11 117076940 117076940 SNU475_LIVER 37 Missense_Mutation SNP G A uc001pqr.2 Hybrid_Cap... view
PCSK7 p.G229C 11 117097957 117097957 SNU475_LIVER 37 Missense_Mutation SNP C A uc001pqr.2 Hybrid_Cap... view
PDE4DIP p.L601fs 1 144915624 144915624 SNU475_LIVER 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 SNU475_LIVER 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PGR p.L835Q 11 100912818 100912818 SNU475_LIVER 37 Missense_Mutation SNP A T uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap... view
PMS1 2 190670539 190670540 SNU475_LIVER 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKACG p.A189T 9 71628444 71628444 SNU475_LIVER 37 Missense_Mutation SNP C T uc004agy.2 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SNU475_LIVER 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSMA4 p.M174I 15 78838931 78838931 SNU475_LIVER 37 Missense_Mutation SNP G C uc002bdu.3 PSMA4_uc010blf.... Hybrid_Cap... view
RANBP17 p.V1052A 5 170723003 170723003 SNU475_LIVER 37 Missense_Mutation SNP T C uc003mba.2 RANBP17_uc003mb... Hybrid_Cap... view
RBPJ 4 26431822 26431822 SNU475_LIVER 37 Intron Del A - rs76214390 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 SNU475_LIVER 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RIOK1 p.T259I 6 7404182 7404182 SNU475_LIVER 37 Missense_Mutation SNP C T uc003mxn.2 RIOK1_uc003mxo.... Hybrid_Cap... view
RIPK4 p.L766V 21 43161057 43161057 SNU475_LIVER 37 Missense_Mutation SNP G C uc002yzn.1 Hybrid_Cap... view
RPTOR p.I179fs 17 78704389 78704390 SNU475_LIVER 37 Frame_Shift_Ins Ins - T uc002jyt.1 RPTOR_uc002jys.... Hybrid_Cap...
SLK p.E604Q 10 105762746 105762746 SNU475_LIVER 37 Missense_Mutation SNP G C uc001kxo.1 SLK_uc001kxp.1_... Hybrid_Cap... view
SMURF1 7 98628162 98628162 SNU475_LIVER 37 3'UTR SNP T C uc003upu.1 SMURF1_uc003upv... Hybrid_Cap... view
SOX10 22 38379354 38379354 SNU475_LIVER 37 Intron SNP G C uc003aun.1 POLR2F_uc003aum... Hybrid_Cap... view
SPTAN1 p.R2142H 9 131388815 131388815 SNU475_LIVER 37 Missense_Mutation SNP G A uc004bvm.3 SPTAN1_uc004bvl... Hybrid_Cap... view
STAC2 p.E252D 17 37371220 37371220 SNU475_LIVER 37 Missense_Mutation SNP C A uc002hrs.2 STAC2_uc010cvt.... Hybrid_Cap... view
STK31 7 23872024 23872025 SNU475_LIVER 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK40 p.M262fs 1 36809835 36809836 SNU475_LIVER 37 Frame_Shift_Del Del AT - uc001cal.1 STK40_uc001cak.... Hybrid_Cap...
STYK1 12 10772700 10772700 SNU475_LIVER 37 3'UTR SNP A G uc001qys.2 Hybrid_Cap... view
TEC 4 48139307 48139310 SNU475_LIVER 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TET1 p.N661H 10 70404467 70404467 SNU475_LIVER 37 Missense_Mutation SNP A C uc001jok.3 Hybrid_Cap... view
TNFRSF9 p.N7S 1 8000035 8000035 SNU475_LIVER 37 Missense_Mutation SNP T C uc001aot.2 Hybrid_Cap... view
TP53 p.G262D 17 7577153 7577153 SNU475_LIVER 37 Missense_Mutation SNP C T uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP53 p.N239D 17 7577566 7577566 SNU475_LIVER 37 Missense_Mutation SNP T C uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 SNU475_LIVER 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPM7 p.K107N 15 50940884 50940884 SNU475_LIVER 37 Missense_Mutation SNP C G uc001zyt.3 TRPM7_uc010bew.... Hybrid_Cap... view
TTN 2 179391639 179391640 SNU475_LIVER 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 SNU475_LIVER 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZNF497 p.P161L 19 58868520 58868520 SNU475_LIVER 37 Missense_Mutation SNP G A uc002qsh.1 A1BG_uc002qsf.1... Hybrid_Cap... view