Annotation Summary for Cell Line: SW948  

Cell line primary name: SW948
Cell line aliases:
Gender: F
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: ATCC
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_H06_296168
SNP arrays: FASTS_p_NCLE_DNAAffy4_S_GenomeWideSNP_6_D08_335274
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SW948

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 SW948_LARGE_INT... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630241 9630245 SW948_LARGE_INT... 37 3'UTR Del TTGAT - rs3833563 uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM17 2 9630245 9630245 SW948_LARGE_INT... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 SW948_LARGE_INT... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADARB2 10 1229080 1229080 SW948_LARGE_INT... 37 3'UTR SNP C T uc009xhq.2 ADARB2_uc009xhp... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 SW948_LARGE_INT... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP6 p.R1133* 14 33242908 33242908 SW948_LARGE_INT... 37 Nonsense_Mutation SNP C T uc001wrq.2 Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 SW948_LARGE_INT... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 SW948_LARGE_INT... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ANAPC5 12 121755917 121755917 SW948_LARGE_INT... 37 Intron SNP C G uc001uag.2 ANAPC5_uc010szu... Hybrid_Cap... view
APC p.R1114* 5 112174631 112174631 SW948_LARGE_INT... 37 Nonsense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.Q1429* 5 112175576 112175576 SW948_LARGE_INT... 37 Nonsense_Mutation SNP C T rs74535574 uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
ARID1A p.G701A 1 27087528 27087528 SW948_LARGE_INT... 37 Missense_Mutation SNP G C uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap... view
ATM p.Q2210* 11 108196092 108196092 SW948_LARGE_INT... 37 Nonsense_Mutation SNP C T uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
ATRX p.S26S X 76972663 76972663 SW948_LARGE_INT... 37 Silent SNP T A uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap... view
BCL3 p.A430P 19 45262795 45262795 SW948_LARGE_INT... 37 Missense_Mutation SNP G C uc010xxe.1 Hybrid_Cap... view
BCL3 19 45262965 45262968 SW948_LARGE_INT... 37 3'UTR Del CCCC - uc010xxe.1 Hybrid_Cap...
BCR p.R55C 22 23523310 23523310 SW948_LARGE_INT... 37 Missense_Mutation SNP C T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap... view
BMP4 14 54416601 54416602 SW948_LARGE_INT... 37 3'UTR Ins - AT rs74495140;rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
BOK 2 242511882 242511882 SW948_LARGE_INT... 37 3'UTR SNP C T uc002wbq.2 BOK_uc002wbr.2_... Hybrid_Cap... view
BTG1 12 92537706 92537707 SW948_LARGE_INT... 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CACNB2 10 18828721 18828722 SW948_LARGE_INT... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CARD9 9 139261972 139261972 SW948_LARGE_INT... 37 Intron SNP G C uc004chg.3 CARD9_uc011mdw.... Hybrid_Cap... view
CARS p.L394M 11 3041536 3041536 SW948_LARGE_INT... 37 Missense_Mutation SNP G T uc001lxf.2 CARS_uc001lxe.2... Hybrid_Cap... view
CDC42BPB p.R1289W 14 103410771 103410771 SW948_LARGE_INT... 37 Missense_Mutation SNP T A uc001ymi.1 CDC42BPB_uc001y... Hybrid_Cap... view
CDC42BPB p.L490R 14 103442059 103442059 SW948_LARGE_INT... 37 Missense_Mutation SNP A C uc001ymi.1 Hybrid_Cap... view
CDKL3 p.M489L 5 133640252 133640252 SW948_LARGE_INT... 37 Missense_Mutation SNP T A uc003kzf.3 CDKL3_uc011cxm.... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 SW948_LARGE_INT... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 SW948_LARGE_INT... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 SW948_LARGE_INT... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CTNNA2 2 80816421 80816421 SW948_LARGE_INT... 37 Intron SNP C G uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
CUBN p.F1612Y 10 16996408 16996408 SW948_LARGE_INT... 37 Missense_Mutation SNP A T uc001ioo.2 Hybrid_Cap... view
CXCL12 10 44873992 44873993 SW948_LARGE_INT... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
CYP19A1 p.E489* 15 51503052 51503052 SW948_LARGE_INT... 37 Nonsense_Mutation SNP C A uc001zyz.3 CYP19A1_uc001zz... Hybrid_Cap... view
DAPK3 19 3961224 3961224 SW948_LARGE_INT... 37 Intron SNP G A uc002lzc.1 DAPK3_uc002lzb.... Hybrid_Cap... view
DCLK1 p.C39* 13 36700158 36700158 SW948_LARGE_INT... 37 Nonsense_Mutation SNP G T uc001uvf.2 Hybrid_Cap... view
EGF 4 110834390 110834390 SW948_LARGE_INT... 37 5'UTR SNP G A rs11568848 uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap... view
EHBP1 p.E368_splice 2 63101479 63101479 SW948_LARGE_INT... 37 Splice_Site_SNP SNP A C uc002sby.2 EHBP1_uc010fcp.... Hybrid_Cap... view
EIF4E 4 99808137 99808141 SW948_LARGE_INT... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EP300 p.E1687_splice 22 41572533 41572533 SW948_LARGE_INT... 37 Splice_Site_SNP SNP G T uc003azl.3 Hybrid_Cap... view
EPHA3 p.R83G 3 89259103 89259103 SW948_LARGE_INT... 37 Missense_Mutation SNP A G uc003dqy.2 EPHA3_uc003dqx.... Hybrid_Cap... view
EPHB6 p.176_177insS 7 142562051 142562052 SW948_LARGE_INT... 37 In_Frame_Ins Ins - CCT rs72043374 uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
EPHB6 p.S800R 7 142566843 142566843 SW948_LARGE_INT... 37 Missense_Mutation SNP C A uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap... view
EPHB6 7 142568771 142568771 SW948_LARGE_INT... 37 3'UTR Del C - uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
ETV1 7 14028708 14028708 SW948_LARGE_INT... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 SW948_LARGE_INT... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 SW948_LARGE_INT... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 p.P40H 11 128628110 128628110 SW948_LARGE_INT... 37 Missense_Mutation SNP C A uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap... view
FLI1 11 128638217 128638217 SW948_LARGE_INT... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNC p.P1581S 7 128488850 128488850 SW948_LARGE_INT... 37 Missense_Mutation SNP C T uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FN1 2 216244182 216244185 SW948_LARGE_INT... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FRK p.R406H 6 116264272 116264272 SW948_LARGE_INT... 37 Missense_Mutation SNP C T uc003pwi.1 Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 SW948_LARGE_INT... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 SW948_LARGE_INT... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SW948_LARGE_INT... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 SW948_LARGE_INT... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIP1 p.E962* 7 75172176 75172176 SW948_LARGE_INT... 37 Nonsense_Mutation SNP C A uc003uds.1 HIP1_uc011kfz.1... Hybrid_Cap... view
ILK 11 6630029 6630029 SW948_LARGE_INT... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 SW948_LARGE_INT... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIAA1549 p.D1392E 7 138566187 138566187 SW948_LARGE_INT... 37 Missense_Mutation SNP G T uc011kql.1 KIAA1549_uc011k... Hybrid_Cap... view
KRAS p.Q61L 12 25380276 25380276 SW948_LARGE_INT... 37 Missense_Mutation SNP T A uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
LATS2 p.W842L 13 21555745 21555745 SW948_LARGE_INT... 37 Missense_Mutation SNP C A uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap... view
LDLR p.D178N 19 11216114 11216114 SW948_LARGE_INT... 37 Missense_Mutation SNP G A uc002mqk.3 LDLR_uc010xlk.1... Hybrid_Cap... view
LRP1 p.E3250* 12 57593066 57593066 SW948_LARGE_INT... 37 Nonsense_Mutation SNP G T uc001snd.2 Hybrid_Cap... view
MAMDC4 9 139755086 139755086 SW948_LARGE_INT... 37 3'UTR SNP G A uc004cjs.2 MAMDC4_uc011mej... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 SW948_LARGE_INT... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K7 p.H353P 19 7976421 7976421 SW948_LARGE_INT... 37 Missense_Mutation SNP A C uc002miv.2 MAP2K7_uc010xka... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 SW948_LARGE_INT... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SW948_LARGE_INT... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MBIP p.Q253K 14 36780812 36780812 SW948_LARGE_INT... 37 Missense_Mutation SNP G T uc001wtm.2 MBIP_uc001wto.2... Hybrid_Cap... view
MLL3 p.Y816fs 7 151945071 151945072 SW948_LARGE_INT... 37 Frame_Shift_Ins Ins - T uc003wla.2 Hybrid_Cap...
MRE11A p.R380C 11 94197366 94197366 SW948_LARGE_INT... 37 Missense_Mutation SNP G A uc001peu.2 MRE11A_uc001pev... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 SW948_LARGE_INT... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYO3A 10 26310663 26310663 SW948_LARGE_INT... 37 Intron SNP C T uc001isn.2 MYO3A_uc009xko.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 SW948_LARGE_INT... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SW948_LARGE_INT... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NOTCH4 p.M1338I 6 32169019 32169019 SW948_LARGE_INT... 37 Missense_Mutation SNP C G uc003obb.2 NOTCH4_uc003oba... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 SW948_LARGE_INT... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR3C1 p.S710C 5 142662189 142662189 SW948_LARGE_INT... 37 Missense_Mutation SNP T A uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap... view
PARP1 p.R582_splice 1 226566842 226566842 SW948_LARGE_INT... 37 Splice_Site_SNP SNP C A uc001hqd.3 Hybrid_Cap... view
PASK p.H186Y 2 242079344 242079344 SW948_LARGE_INT... 37 Missense_Mutation SNP G A uc010fzl.1 PASK_uc010zol.1... Hybrid_Cap... view
PAX3 2 223158653 223158653 SW948_LARGE_INT... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PBX1 1 164815927 164815927 SW948_LARGE_INT... 37 3'UTR SNP G A uc001gct.2 PBX1_uc010pku.1... Hybrid_Cap... view
PDE4DIP p.Q1665fs 1 144873963 144873963 SW948_LARGE_INT... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 SW948_LARGE_INT... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDZRN4 p.P156L 12 41900478 41900478 SW948_LARGE_INT... 37 Missense_Mutation SNP C T uc010skn.1 PDZRN4_uc001rmq... Hybrid_Cap... view
PGGT1B 5 114548071 114548072 SW948_LARGE_INT... 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PI4KB p.P271L 1 151288182 151288182 SW948_LARGE_INT... 37 Missense_Mutation SNP G A uc001exr.2 PI4KB_uc001exs.... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 SW948_LARGE_INT... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3CA p.E542K 3 178936082 178936082 SW948_LARGE_INT... 37 Missense_Mutation SNP G A uc003fjk.2 Hybrid_Cap... view
PIP5K1B p.G455E 9 71555568 71555568 SW948_LARGE_INT... 37 Missense_Mutation SNP G A uc004agu.2 PIP5K1B_uc011lr... Hybrid_Cap... view
PORCN X 48368163 48368163 SW948_LARGE_INT... 37 Intron SNP C G uc010nie.1 PORCN_uc004djq.... Hybrid_Cap... view
PPP1R3A p.T408A 7 113519925 113519925 SW948_LARGE_INT... 37 Missense_Mutation SNP T C uc010ljy.1 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SW948_LARGE_INT... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTK7 6 43128650 43128650 SW948_LARGE_INT... 37 3'UTR SNP G T uc011dve.1 PTK7_uc003oub.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 SW948_LARGE_INT... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RHOA p.G17E 3 49412973 49412973 SW948_LARGE_INT... 37 Missense_Mutation SNP C T rs11552761 uc003cwu.2 RHOA_uc010hku.2... Hybrid_Cap... view
RIOK1 p.S496C 6 7414514 7414514 SW948_LARGE_INT... 37 Missense_Mutation SNP C G uc003mxn.2 RIOK1_uc003mxo.... Hybrid_Cap... view
RPS6KA2 p.K676N 6 166827405 166827405 SW948_LARGE_INT... 37 Missense_Mutation SNP C G uc003qvd.1 RPS6KA2_uc011eg... Hybrid_Cap... view
RPTOR 17 78831711 78831711 SW948_LARGE_INT... 37 Intron SNP C A uc002jyt.1 RPTOR_uc010wuf.... Hybrid_Cap... view
RUNX2 p.E167D 6 45399677 45399677 SW948_LARGE_INT... 37 Missense_Mutation SNP G T uc011dvx.1 RUNX2_uc011dvy.... Hybrid_Cap... view
SERPINB4 p.E291A 18 61305254 61305254 SW948_LARGE_INT... 37 Missense_Mutation SNP T G uc002ljf.2 SERPINB4_uc002l... Hybrid_Cap... view
SLC6A8 X 152957656 152957657 SW948_LARGE_INT... 37 Intron Ins - A uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap...
SMAD4 p.D537Y 18 48604787 48604787 SW948_LARGE_INT... 37 Missense_Mutation SNP G T uc010xdp.1 SMAD4_uc002lfb.... Hybrid_Cap... view
SMAD7 18 46447624 46447624 SW948_LARGE_INT... 37 3'UTR Del A - uc002ldg.2 SMAD7_uc002ldf.... Hybrid_Cap...
SSU72 p.G184D 1 1477480 1477480 SW948_LARGE_INT... 37 Missense_Mutation SNP C T uc001agd.2 C1orf70_uc009vk... Hybrid_Cap... view
TACC3 4 1739519 1739527 SW948_LARGE_INT... 37 Intron Del GCCAT... - rs114226356 uc003gdo.2 TACC3_uc010ibz.... Hybrid_Cap...
TAL2 9 108425318 108425318 SW948_LARGE_INT... 37 3'UTR SNP G A uc004bct.2 Hybrid_Cap... view
TMPO p.S609C 12 98927860 98927860 SW948_LARGE_INT... 37 Missense_Mutation SNP A T uc001tfh.1 TMPO_uc001tfi.1... Hybrid_Cap... view
TNFAIP3 p.A545V 6 138200216 138200216 SW948_LARGE_INT... 37 Missense_Mutation SNP C T uc003qhr.2 TNFAIP3_uc003qh... Hybrid_Cap... view
TRPS1 8 116635872 116635873 SW948_LARGE_INT... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN p.S20434Y 2 179442057 179442057 SW948_LARGE_INT... 37 Missense_Mutation SNP G T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.K11963M 2 179497029 179497029 SW948_LARGE_INT... 37 Missense_Mutation SNP T A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.P10061Q 2 179542932 179542932 SW948_LARGE_INT... 37 Missense_Mutation SNP G T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.V6845G 2 179583661 179583661 SW948_LARGE_INT... 37 Missense_Mutation SNP A C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SW948_LARGE_INT... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZNF276 16 89805423 89805423 SW948_LARGE_INT... 37 3'UTR SNP C A uc002fos.3 ZNF276_uc010ciq... Hybrid_Cap... view
ZNF423 p.V282M 16 49672219 49672219 SW948_LARGE_INT... 37 Missense_Mutation SNP C T uc002efs.2 ZNF423_uc010vgn... Hybrid_Cap... view