Annotation Summary for Cell Line: SJRH30  

Cell line primary name: SJRH30
Cell line aliases:
Gender: M
Site Primary: soft_tissue
Histology: rhabdomyosarcoma
Hist Subtype1: NS
Notes: Identical lines: SJRH30 and RH30 share high SNP identity
Source: ATCC
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_C07_383652
SNP arrays: FASTS_p_NCLE_DNAAffy4_S_GenomeWideSNP_6_F04_335314
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SJRH30

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 SJRH30_SOFT_TIS... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 SJRH30_SOFT_TIS... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.R625W 6 151671399 151671399 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP C T uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 SJRH30_SOFT_TIS... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP6 14 33201912 33201912 SJRH30_SOFT_TIS... 37 Intron Del T - uc001wrq.2 AKAP6_uc010aml.... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 SJRH30_SOFT_TIS... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKAP9 7 91670318 91670319 SJRH30_SOFT_TIS... 37 Intron Ins - T rs66490357 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 SJRH30_SOFT_TIS... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 SJRH30_SOFT_TIS... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ASPH p.A264_splice 8 62550924 62550925 SJRH30_SOFT_TIS... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ATP13A5 p.L691del 3 193032846 193032848 SJRH30_SOFT_TIS... 37 In_Frame_Del Del GAG - uc011bsq.1 Hybrid_Cap...
BMP4 14 54416601 54416602 SJRH30_SOFT_TIS... 37 3'UTR Ins - AT rs74495140;rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
CACNA1F p.F316I X 49084781 49084781 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP A T uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap... view
CD44 p.P334L 11 35222707 35222707 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP C T uc001mvu.2 CD44_uc001mvv.2... Hybrid_Cap... view
CDK11B 1 1654066 1654068 SJRH30_SOFT_TIS... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 SJRH30_SOFT_TIS... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 SJRH30_SOFT_TIS... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CXCL12 10 44873992 44873993 SJRH30_SOFT_TIS... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DACH1 13 72014625 72014626 SJRH30_SOFT_TIS... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DCLK2 p.S392R 4 151141921 151141921 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP A C uc003ilo.3 DCLK2_uc003ilm.... Hybrid_Cap... view
DDR2 1 162750211 162750212 SJRH30_SOFT_TIS... 37 3'UTR Del TT - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DGKB 7 14216345 14216346 SJRH30_SOFT_TIS... 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
EPHA7 6 94119958 94119958 SJRH30_SOFT_TIS... 37 Intron SNP A G uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
ETV1 7 14028708 14028708 SJRH30_SOFT_TIS... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR3 4 1809128 1809129 SJRH30_SOFT_TIS... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 SJRH30_SOFT_TIS... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 SJRH30_SOFT_TIS... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GLTSCR1 p.V480I 19 48183865 48183865 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP G A uc002phh.3 GLTSCR1_uc002ph... Hybrid_Cap... view
GRIA3 X 122318386 122318387 SJRH30_SOFT_TIS... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SJRH30_SOFT_TIS... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HECW1 p.S302L 7 43477705 43477705 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP C T uc003tid.1 HECW1_uc011kbi.... Hybrid_Cap... view
HERC2 15 28356726 28356726 SJRH30_SOFT_TIS... 37 3'UTR SNP C T uc001zbj.2 HERC2_uc001zbi.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 SJRH30_SOFT_TIS... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
ICK p.S431R 6 52876885 52876885 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP G T uc003pbh.2 ICK_uc003pbi.2_... Hybrid_Cap... view
ILK 11 6630029 6630029 SJRH30_SOFT_TIS... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRS2 13 110408440 110408440 SJRH30_SOFT_TIS... 37 3'UTR SNP T C uc001vqv.2 Hybrid_Cap... view
ITIH5L p.A402fs X 54785301 54785301 SJRH30_SOFT_TIS... 37 Frame_Shift_Del Del G - uc004dtj.2 Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 SJRH30_SOFT_TIS... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAK1 p.P969S 1 65304210 65304210 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP G A uc001dbu.1 JAK1_uc009wam.1... Hybrid_Cap... view
KLK7 19 51480672 51480675 SJRH30_SOFT_TIS... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMP1 p.V346I 13 113975964 113975964 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP G A uc001vtm.1 LAMP1_uc010tka.... Hybrid_Cap... view
LRP1 12 57606437 57606437 SJRH30_SOFT_TIS... 37 3'UTR SNP C T uc001snd.2 Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 SJRH30_SOFT_TIS... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 SJRH30_SOFT_TIS... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K5 15 67951229 67951229 SJRH30_SOFT_TIS... 37 Intron Del A - uc002aqu.2 MAP2K5_uc002aqt... Hybrid_Cap...
MAP2K6 17 67516341 67516341 SJRH30_SOFT_TIS... 37 Intron Del T - uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SJRH30_SOFT_TIS... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK14 6 36076345 36076354 SJRH30_SOFT_TIS... 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MECOM 3 169381317 169381317 SJRH30_SOFT_TIS... 37 5'UTR SNP T C uc011bpj.1 MECOM_uc011bpk.... Hybrid_Cap... view
MINK1 p.D790N 17 4796330 4796330 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP G A uc010vsl.1 MINK1_uc010vsk.... Hybrid_Cap... view
MYH10 p.R1609K 17 8393716 8393716 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP C T uc002glm.2 MYH10_uc002gll.... Hybrid_Cap... view
MYO3B p.T166I 2 171071309 171071309 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP C T uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 SJRH30_SOFT_TIS... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SJRH30_SOFT_TIS... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA1 p.V775L 2 24930662 24930662 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP G C uc002rfk.2 NCOA1_uc010eye.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 SJRH30_SOFT_TIS... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 SJRH30_SOFT_TIS... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SJRH30_SOFT_TIS... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 SJRH30_SOFT_TIS... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NTRK2 9 87425549 87425549 SJRH30_SOFT_TIS... 37 Intron SNP G T uc004anz.1 NTRK2_uc004anv.... Hybrid_Cap... view
PAWR 12 79986272 79986272 SJRH30_SOFT_TIS... 37 3'UTR SNP A G uc001syx.2 Hybrid_Cap... view
PAX3 2 223066017 223066018 SJRH30_SOFT_TIS... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 SJRH30_SOFT_TIS... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PGR 11 100933598 100933599 SJRH30_SOFT_TIS... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 SJRH30_SOFT_TIS... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PPARD 6 35393857 35393857 SJRH30_SOFT_TIS... 37 3'UTR SNP C G uc003okm.2 PPARD_uc003okn.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SJRH30_SOFT_TIS... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAPGEF2 4 160189200 160189201 SJRH30_SOFT_TIS... 37 5'UTR Ins - T rs72011511 uc003iqg.3 Hybrid_Cap...
RARA p.P9L 17 38487496 38487496 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP C T uc002huk.1 RARA_uc002hul.3... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 SJRH30_SOFT_TIS... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
ROBO1 3 78719461 78719461 SJRH30_SOFT_TIS... 37 Intron SNP G T uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 SJRH30_SOFT_TIS... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SLC6A8 X 152957656 152957657 SJRH30_SOFT_TIS... 37 Intron Ins - A uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap...
SMURF2 17 62541834 62541835 SJRH30_SOFT_TIS... 37 3'UTR Ins - A rs59188589 uc002jep.1 SMURF2_uc002jeq... Hybrid_Cap...
STK25 2 242435659 242435662 SJRH30_SOFT_TIS... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 SJRH30_SOFT_TIS... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
SULF1 p.R512H 8 70533427 70533427 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP G A uc010lza.1 SULF1_uc003xyd.... Hybrid_Cap... view
TEC 4 48139307 48139310 SJRH30_SOFT_TIS... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TLK1 2 171850178 171850179 SJRH30_SOFT_TIS... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 SJRH30_SOFT_TIS... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNN p.A357S 1 175052906 175052906 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP G T uc001gkl.1 TNN_uc010pmx.1_... Hybrid_Cap... view
TP53 p.R280S 17 7577098 7577098 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP T A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP53 p.R273C 17 7577121 7577121 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP G A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP53 p.Y205C 17 7578235 7578235 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP T C uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 SJRH30_SOFT_TIS... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM24 p.Q520E 7 138252253 138252253 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP C G uc003vuc.2 TRIM24_uc003vub... Hybrid_Cap... view
TRPM7 p.N1528Y 15 50873081 50873081 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP T A uc001zyt.3 TRPM7_uc001zyr.... Hybrid_Cap... view
TRPS1 8 116635872 116635873 SJRH30_SOFT_TIS... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTBK1 p.E771del 6 43250726 43250728 SJRH30_SOFT_TIS... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN p.L13558del 2 179480448 179480450 SJRH30_SOFT_TIS... 37 In_Frame_Del Del AAT - uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
UBR5 p.M629T 8 103326980 103326980 SJRH30_SOFT_TIS... 37 Missense_Mutation SNP A G uc003ykr.1 UBR5_uc003yks.1... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SJRH30_SOFT_TIS... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...