Annotation Summary for Cell Line: SW1417  

Cell line primary name: SW1417
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_H05_296166
SNP arrays: FASTS_p_NCLE_DNAAffy4_S_GenomeWideSNP_6_D05_335268
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SW1417

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 SW1417_LARGE_IN... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 SW1417_LARGE_IN... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 SW1417_LARGE_IN... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
APC p.R1450* 5 112175639 112175639 SW1417_LARGE_IN... 37 Nonsense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
BRAF p.V600E 7 140453136 140453136 SW1417_LARGE_IN... 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
CCND3 6 41903468 41903468 SW1417_LARGE_IN... 37 3'UTR SNP G C uc003orn.2 CCND3_uc003orp.... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 SW1417_LARGE_IN... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 SW1417_LARGE_IN... 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CTBP2 p.D93N 10 126716052 126716052 SW1417_LARGE_IN... 37 Missense_Mutation SNP C T uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
ETV1 7 14028708 14028708 SW1417_LARGE_IN... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FBN1 p.D132H 15 48892384 48892384 SW1417_LARGE_IN... 37 Missense_Mutation SNP C G uc001zwx.1 Hybrid_Cap... view
FLI1 11 128638217 128638217 SW1417_LARGE_IN... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 SW1417_LARGE_IN... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GRIA3 X 122318386 122318387 SW1417_LARGE_IN... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
HNF1A 12 121434630 121434631 SW1417_LARGE_IN... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 SW1417_LARGE_IN... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITK p.R166Q 5 156649874 156649874 SW1417_LARGE_IN... 37 Missense_Mutation SNP G A uc003lwo.1 Hybrid_Cap... view
ITPR2 p.T959fs 12 26784855 26784856 SW1417_LARGE_IN... 37 Frame_Shift_Ins Ins - G uc001rhg.2 Hybrid_Cap...
JAK1 p.R343Q 1 65330618 65330618 SW1417_LARGE_IN... 37 Missense_Mutation SNP C T uc001dbu.1 JAK1_uc009wam.1... Hybrid_Cap... view
KLK7 19 51480672 51480675 SW1417_LARGE_IN... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRP2 p.T2608A 2 170060675 170060675 SW1417_LARGE_IN... 37 Missense_Mutation SNP T C uc002ues.2 Hybrid_Cap... view
LRP6 p.R803K 12 12312770 12312770 SW1417_LARGE_IN... 37 Missense_Mutation SNP C T uc001rah.3 BCL2L14_uc001ra... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 SW1417_LARGE_IN... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K4 p.R285G 17 12028617 12028617 SW1417_LARGE_IN... 37 Missense_Mutation SNP A G rs56102360 uc002gnk.2 MAP2K4_uc002gnj... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 SW1417_LARGE_IN... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SW1417_LARGE_IN... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK4 p.S412L 18 48255695 48255695 SW1417_LARGE_IN... 37 Missense_Mutation SNP C T uc002lev.2 MAPK4_uc010xdm.... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 SW1417_LARGE_IN... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MECOM p.H501Q 3 168834157 168834157 SW1417_LARGE_IN... 37 Missense_Mutation SNP G C uc011bpj.1 MECOM_uc010hwk.... Hybrid_Cap... view
MLL3 p.P2050L 7 151878796 151878796 SW1417_LARGE_IN... 37 Missense_Mutation SNP G A uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLL3 p.S1416L 7 151896390 151896390 SW1417_LARGE_IN... 37 Missense_Mutation SNP G A uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 SW1417_LARGE_IN... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYST4 p.EEE1366del 10 76788660 76788668 SW1417_LARGE_IN... 37 In_Frame_Del Del GAAGA... - uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap...
NCAM1 11 112832307 112832308 SW1417_LARGE_IN... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SW1417_LARGE_IN... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 SW1417_LARGE_IN... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NFIA 1 61921185 61921186 SW1417_LARGE_IN... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPR1 1 153665919 153665920 SW1417_LARGE_IN... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SW1417_LARGE_IN... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUMA1 p.Q565K 11 71726856 71726856 SW1417_LARGE_IN... 37 Missense_Mutation SNP G T uc001orl.1 NUMA1_uc009ysw.... Hybrid_Cap... view
PAX3 2 223158653 223158653 SW1417_LARGE_IN... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 SW1417_LARGE_IN... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDK1 p.S382L 2 173457691 173457691 SW1417_LARGE_IN... 37 Missense_Mutation SNP C T uc002uhq.1 PDK1_uc010zdz.1... Hybrid_Cap... view
PRKD3 2 37480319 37480320 SW1417_LARGE_IN... 37 Stop_Codon_Ins Ins - T rs79875666 uc002rqd.2 Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 SW1417_LARGE_IN... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPRT p.R1013M 20 40747044 40747044 SW1417_LARGE_IN... 37 Missense_Mutation SNP C A uc010ggj.2 PTPRT_uc002xkg.... Hybrid_Cap... view
RANBP9 p.V335A 6 13644885 13644885 SW1417_LARGE_IN... 37 Missense_Mutation SNP A G uc003nbb.2 RANBP9_uc003nba... Hybrid_Cap... view
ROBO1 p.T948A 3 78695338 78695338 SW1417_LARGE_IN... 37 Missense_Mutation SNP T C uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap... view
SACS p.K1717fs 13 23912864 23912864 SW1417_LARGE_IN... 37 Frame_Shift_Del Del T - uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap...
TNIK 3 171178018 171178018 SW1417_LARGE_IN... 37 5'UTR SNP T G uc003fhh.2 TNIK_uc003fhi.2... Hybrid_Cap... view
TNRC6B p.Q1328del 22 40697177 40697179 SW1417_LARGE_IN... 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP53 p.C238fs 17 7577556 7577569 SW1417_LARGE_IN... 37 Frame_Shift_Del Del CAGGA... - rs28934573 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap...
TP63 3 189507518 189507519 SW1417_LARGE_IN... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 SW1417_LARGE_IN... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WHSC1 p.R944Q 4 1957865 1957865 SW1417_LARGE_IN... 37 Missense_Mutation SNP G A uc003gdz.3 WHSC1_uc003geb.... Hybrid_Cap... view
WRN p.Q582R 8 30948374 30948374 SW1417_LARGE_IN... 37 Missense_Mutation SNP A G uc003xio.3 WRN_uc010lvk.2_... Hybrid_Cap... view