Annotation Summary for Cell Line: MFE-296  

Cell line primary name: MFE-296
Cell line aliases:
Gender: F
Site Primary: endometrium
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: DSMZ
Expression arrays: BRAKE_p_NCLE_RNA2_HG-U133_Plus_2_E12_241160
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_G08_246768
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in MFE-296

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 MFE296_ENDOMETR... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACA p.R569C 17 35614746 35614746 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ACACA 17 35766564 35766564 MFE296_ENDOMETR... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ACVR2A p.H434fs 2 148683685 148683686 MFE296_ENDOMETR... 37 Frame_Shift_Ins Ins - A uc002twg.2 ACVR2A_uc010zbn... Hybrid_Cap...
ADAM28 8 24211994 24211997 MFE296_ENDOMETR... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM29 p.Y541* 4 175898299 175898299 MFE296_ENDOMETR... 37 Nonsense_Mutation SNP T A uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap... view
ADAM32 p.D333H 8 39044509 39044509 MFE296_ENDOMETR... 37 Missense_Mutation SNP G C uc003xmt.3 ADAM32_uc011lch... Hybrid_Cap... view
ADCK5 p.V33I 8 145603160 145603160 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc003zch.2 ADCK5_uc003zcg.... Hybrid_Cap... view
AIFM1 p.T470T X 129267326 129267326 MFE296_ENDOMETR... 37 Silent SNP A G uc004evg.2 AIFM1_uc011mur.... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 MFE296_ENDOMETR... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 7 91670248 91670249 MFE296_ENDOMETR... 37 Intron Ins - T uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 p.G85G 4 113303687 113303687 MFE296_ENDOMETR... 37 Silent SNP C T uc003iap.3 ALPK1_uc003iam.... Hybrid_Cap... view
ALPK1 4 113347610 113347610 MFE296_ENDOMETR... 37 Intron Del T - uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
APC p.G2362fs 5 112178376 112178377 MFE296_ENDOMETR... 37 Frame_Shift_Ins Ins - A uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap...
ARHGAP29 p.Q1248* 1 94639469 94639469 MFE296_ENDOMETR... 37 Nonsense_Mutation SNP G A uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap... view
ARID1A p.M274fs 1 27023716 27023716 MFE296_ENDOMETR... 37 Frame_Shift_Del Del G - uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap...
ASPH 8 62602296 62602296 MFE296_ENDOMETR... 37 Intron Del A - uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ATP8B1 p.N205fs 18 55365039 55365040 MFE296_ENDOMETR... 37 Frame_Shift_Ins Ins - T uc002lgw.2 Hybrid_Cap...
BAX p.M38fs 19 49458971 49458971 MFE296_ENDOMETR... 37 Frame_Shift_Del Del G - uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap...
BCR 22 23631814 23631814 MFE296_ENDOMETR... 37 Intron Del C - uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BRD3 p.P24fs 9 136918529 136918529 MFE296_ENDOMETR... 37 Frame_Shift_Del Del G - uc004cew.2 BRD3_uc004cex.2... Hybrid_Cap...
C1ORF86 1 2116337 2116337 MFE296_ENDOMETR... 37 3'UTR Del C - uc001aix.1 PRKCZ_uc001aiq.... Hybrid_Cap...
CACNB2 10 18828721 18828722 MFE296_ENDOMETR... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAD p.L1054F 2 27456348 27456348 MFE296_ENDOMETR... 37 Missense_Mutation SNP C T uc002rji.2 CAD_uc010eyw.2_... Hybrid_Cap... view
CAMK1 p.N308S 3 9799520 9799520 MFE296_ENDOMETR... 37 Missense_Mutation SNP T C uc003bst.2 OGG1_uc003bsk.2... Hybrid_Cap... view
CDK10 p.G183S 16 89759814 89759814 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc010cio.2 CDK10_uc010cip.... Hybrid_Cap... view
CDK11B 1 1654066 1654068 MFE296_ENDOMETR... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDKL3 5 133541548 133541548 MFE296_ENDOMETR... 37 3'UTR Del A - rs2239543 uc011cxm.1 PPP2CA_uc003kze... Hybrid_Cap...
CEP110 9 123939699 123939700 MFE296_ENDOMETR... 37 3'UTR Del TT - rs75910820 uc004bkx.1 CEP110_uc004blb... Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 MFE296_ENDOMETR... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD5 p.V862A 1 6196688 6196688 MFE296_ENDOMETR... 37 Missense_Mutation SNP A G uc001amb.1 CHD5_uc001ama.1... Hybrid_Cap... view
CHD9 p.K2429fs 16 53348351 53348351 MFE296_ENDOMETR... 37 Frame_Shift_Del Del A - uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 MFE296_ENDOMETR... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196683 19196683 MFE296_ENDOMETR... 37 Intron SNP A G uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CNTN5 p.G620D 11 100064370 100064370 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc001pga.2 CNTN5_uc009ywv.... Hybrid_Cap... view
CNTN5 p.P283S 11 99827711 99827711 MFE296_ENDOMETR... 37 Missense_Mutation SNP C T uc001pga.2 CNTN5_uc009ywv.... Hybrid_Cap... view
CSMD3 8 114449206 114449206 MFE296_ENDOMETR... 37 5'UTR SNP G T uc003ynu.2 CSMD3_uc011lhx.... Hybrid_Cap... view
CTSS p.Y39* 1 150737123 150737123 MFE296_ENDOMETR... 37 Nonsense_Mutation SNP G C uc001evn.2 CTSS_uc010pcj.1... Hybrid_Cap... view
DICER1 p.R1895* 14 95556921 95556921 MFE296_ENDOMETR... 37 Nonsense_Mutation SNP G A uc001ydw.2 DICER1_uc010avh... Hybrid_Cap... view
DNAH8 p.A2570S 6 38854666 38854666 MFE296_ENDOMETR... 37 Missense_Mutation SNP G T uc003ooe.1 Hybrid_Cap... view
DOCK3 p.T1850fs 3 51417604 51417604 MFE296_ENDOMETR... 37 Frame_Shift_Del Del C - uc011bds.1 Hybrid_Cap...
DST p.L1677fs 6 56476324 56476324 MFE296_ENDOMETR... 37 Frame_Shift_Del Del A - uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap...
EDN1 6 12290729 12290729 MFE296_ENDOMETR... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EIF4EBP1 8 37917484 37917484 MFE296_ENDOMETR... 37 3'UTR Del G - uc003xks.2 Hybrid_Cap...
EP300 p.R1665H 22 41572465 41572465 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc003azl.3 Hybrid_Cap... view
EP300 22 41574970 41574972 MFE296_ENDOMETR... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA1 p.E818G 7 143091336 143091336 MFE296_ENDOMETR... 37 Missense_Mutation SNP T C uc003wcz.2 Hybrid_Cap... view
EPHA4 2 222290624 222290624 MFE296_ENDOMETR... 37 3'UTR Del T - uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap...
EPHA6 3 97367230 97367231 MFE296_ENDOMETR... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA7 6 93953051 93953051 MFE296_ENDOMETR... 37 3'UTR SNP T C uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
EPS15 1 51822220 51822220 MFE296_ENDOMETR... 37 3'UTR Del A - uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap...
ETV1 7 14028708 14028708 MFE296_ENDOMETR... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
EXT1 p.G289R 8 119122421 119122421 MFE296_ENDOMETR... 37 Missense_Mutation SNP C T uc003yok.1 Hybrid_Cap... view
FAM123B p.K1111Q X 63409836 63409836 MFE296_ENDOMETR... 37 Missense_Mutation SNP T G uc004dvo.2 Hybrid_Cap... view
FASN p.T105fs 17 80051614 80051615 MFE296_ENDOMETR... 37 Frame_Shift_Del Del GT - uc002kdu.2 Hybrid_Cap...
FBN2 p.N614fs 5 127713452 127713453 MFE296_ENDOMETR... 37 Frame_Shift_Ins Ins - T uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 MFE296_ENDOMETR... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR2 p.N550K 10 123258034 123258034 MFE296_ENDOMETR... 37 Missense_Mutation SNP A C uc010qtj.1 FGFR2_uc010qtg.... Hybrid_Cap... view
FLI1 11 128638217 128638217 MFE296_ENDOMETR... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT4 p.L192L 5 180057043 180057043 MFE296_ENDOMETR... 37 Silent SNP G A uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap... view
GH1 17 61994641 61994641 MFE296_ENDOMETR... 37 3'UTR Del A - uc002jdj.2 GH1_uc002jdi.2_... Hybrid_Cap...
GLTSCR1 p.P935fs 19 48197891 48197891 MFE296_ENDOMETR... 37 Frame_Shift_Del Del C - uc002phh.3 GLTSCR1_uc002ph... Hybrid_Cap...
GPC3 X 132888208 132888209 MFE296_ENDOMETR... 37 Intron Del AA - uc010nrn.1 GPC3_uc004exd.1... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 MFE296_ENDOMETR... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 MFE296_ENDOMETR... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2B p.I440V 12 13769399 13769399 MFE296_ENDOMETR... 37 Missense_Mutation SNP T C uc001rbt.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 MFE296_ENDOMETR... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC2 p.81_82insS 6 114292109 114292110 MFE296_ENDOMETR... 37 In_Frame_Ins Ins - CTG uc003pwd.1 HDAC2_uc003pwc.... Hybrid_Cap...
HIP1 p.L85M 7 75221764 75221764 MFE296_ENDOMETR... 37 Missense_Mutation SNP G T uc003uds.1 HIP1_uc011kfz.1... Hybrid_Cap... view
HSP90AA1 p.367_368insK 14 102551263 102551264 MFE296_ENDOMETR... 37 In_Frame_Ins Ins - CTT rs3208445 uc001ykv.3 HSP90AA1_uc001y... Hybrid_Cap...
HSPB1 p.A204T 7 75933482 75933482 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc003uew.2 HSPB1_uc010ldj.... Hybrid_Cap... view
IGF1R p.D38N 15 99250808 99250808 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap... view
ILK 11 6630029 6630029 MFE296_ENDOMETR... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INSR p.R914H 19 7132270 7132270 MFE296_ENDOMETR... 37 Missense_Mutation SNP C T uc002mgd.1 INSR_uc002mge.1... Hybrid_Cap... view
IRAK2 p.Q212* 3 10254996 10254996 MFE296_ENDOMETR... 37 Nonsense_Mutation SNP C T uc003bve.1 Hybrid_Cap... view
ITGAV p.R559fs 2 187521085 187521085 MFE296_ENDOMETR... 37 Frame_Shift_Del Del G - uc002upq.2 ITGAV_uc010frs.... Hybrid_Cap...
ITPR2 p.H2225Y 12 26589250 26589250 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc001rhg.2 ITPR2_uc009zjg.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 MFE296_ENDOMETR... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAK1 p.K860fs 1 65306997 65306997 MFE296_ENDOMETR... 37 Frame_Shift_Del Del T - uc001dbu.1 JAK1_uc009wam.1... Hybrid_Cap...
KDM6A p.H649fs X 44922929 44922930 MFE296_ENDOMETR... 37 Frame_Shift_Del Del AT - uc011mkz.1 KDM6A_uc010nhk.... Hybrid_Cap...
KIAA1409 p.P1377Q 14 94088174 94088174 MFE296_ENDOMETR... 37 Missense_Mutation SNP C A uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap... view
LATS2 13 21620223 21620223 MFE296_ENDOMETR... 37 5'UTR Del A - rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LDLR 19 11242104 11242104 MFE296_ENDOMETR... 37 3'UTR SNP T A uc002mqk.3 LDLR_uc010xlk.1... Hybrid_Cap... view
LETM2 8 38265796 38265798 MFE296_ENDOMETR... 37 3'UTR Del ACT - uc003xlm.1 LETM2_uc003xll.... Hybrid_Cap...
LIFR p.K526fs 5 38502761 38502761 MFE296_ENDOMETR... 37 Frame_Shift_Del Del T - uc010ive.1 LIFR_uc003jli.2... Hybrid_Cap...
LRP1 p.P2548T 12 57587045 57587045 MFE296_ENDOMETR... 37 Missense_Mutation SNP C A uc001snd.2 MIR1228_hsa-mir... Hybrid_Cap... view
LRP1B p.N455T 2 141816496 141816496 MFE296_ENDOMETR... 37 Missense_Mutation SNP T G uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
LRP2 p.R1412W 2 170096097 170096097 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc002ues.2 Hybrid_Cap... view
LRRC2 3 46560368 46560368 MFE296_ENDOMETR... 37 3'UTR Del T - uc010hji.2 LRRC2_uc003cpu.... Hybrid_Cap...
LRRK1 p.R1916G 15 101606388 101606388 MFE296_ENDOMETR... 37 Missense_Mutation SNP A G uc002bwr.2 LRRK1_uc010usb.... Hybrid_Cap... view
MAF 16 79628325 79628325 MFE296_ENDOMETR... 37 3'UTR Del A - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 MFE296_ENDOMETR... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K6 17 67516341 67516342 MFE296_ENDOMETR... 37 Intron Del TT - uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap...
MAP3K1 p.R249H 5 56155654 56155654 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc003jqw.3 Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 MFE296_ENDOMETR... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 MFE296_ENDOMETR... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K4 p.P175fs 6 161469829 161469829 MFE296_ENDOMETR... 37 Frame_Shift_Del Del A - uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap...
MAP3K5 6 136878752 136878752 MFE296_ENDOMETR... 37 3'UTR Del T - rs79903899 uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap...
MAP3K9 p.A310T 14 71227792 71227792 MFE296_ENDOMETR... 37 Missense_Mutation SNP C T uc001xml.2 MAP3K9_uc010ttk... Hybrid_Cap... view
MAPK14 6 36076345 36076354 MFE296_ENDOMETR... 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MAST2 p.L156E 1 46295251 46295252 MFE296_ENDOMETR... 37 Missense_Mutation DNP CT GA uc001cov.2 MAST2_uc001cow.... Hybrid_Cap...
MLH1 3 37092174 37092176 MFE296_ENDOMETR... 37 3'UTR Del TTC - uc003cgl.2 MLH1_uc011aye.1... Hybrid_Cap...
MLL3 p.K2797fs 7 151874148 151874148 MFE296_ENDOMETR... 37 Frame_Shift_Del Del T - uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap...
MLLT3 9 20346394 20346394 MFE296_ENDOMETR... 37 3'UTR Del A - uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MSH3 p.AAA58del 5 79950709 79950717 MFE296_ENDOMETR... 37 In_Frame_Del Del GCAGC... - rs67658031;rs2431220 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MSH6 p.A1055V 2 48028286 48028286 MFE296_ENDOMETR... 37 Missense_Mutation SNP C T uc002rwd.3 MSH6_uc002rwc.2... Hybrid_Cap... view
MTMR11 1 149908135 149908135 MFE296_ENDOMETR... 37 Intron SNP G T uc001etl.3 MTMR11_uc001etm... Hybrid_Cap... view
MTOR p.R1482C 1 11217234 11217234 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc001asd.2 Hybrid_Cap... view
MYO18B p.A405T 22 26165096 26165096 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc003abz.1 MYO18B_uc003aca... Hybrid_Cap... view
MYO3A p.F724fs 10 26417377 26417378 MFE296_ENDOMETR... 37 Frame_Shift_Ins Ins - A uc001isn.2 MYO3A_uc009xko.... Hybrid_Cap...
MYO3B p.F1328fs 2 171509587 171509587 MFE296_ENDOMETR... 37 Frame_Shift_Del Del T - uc002ufy.2 MYO3B_uc002ufz.... Hybrid_Cap...
NCAM1 11 112832307 112832308 MFE296_ENDOMETR... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 MFE296_ENDOMETR... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 MFE296_ENDOMETR... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NIPBL 5 37051862 37051862 MFE296_ENDOMETR... 37 Intron Del T - uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap...
NIPBL 5 37065070 37065070 MFE296_ENDOMETR... 37 3'UTR Del A - uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap...
NLRP6 p.R443S 11 281061 281061 MFE296_ENDOMETR... 37 Missense_Mutation SNP C A uc010qvs.1 NLRP6_uc010qvt.... Hybrid_Cap... view
NPM1 5 170837734 170837734 MFE296_ENDOMETR... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR2 p.A48T 9 35792547 35792547 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc003zyd.2 NPR2_uc010mlb.2... Hybrid_Cap... view
NR1H2 p.E66K 19 50881420 50881420 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 MFE296_ENDOMETR... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRK p.E1575V X 105199567 105199567 MFE296_ENDOMETR... 37 Missense_Mutation SNP A T uc004emd.2 NRK_uc011msi.1_... Hybrid_Cap... view
NTRK1 p.S419L 1 156844702 156844702 MFE296_ENDOMETR... 37 Missense_Mutation SNP C T uc001fqh.1 NTRK1_uc001fqf.... Hybrid_Cap... view
OMD 9 95179845 95179845 MFE296_ENDOMETR... 37 5'UTR Del T - uc004asd.3 CENPP_uc004arz.... Hybrid_Cap...
PAK6 p.N298fs 15 40564460 40564460 MFE296_ENDOMETR... 37 Frame_Shift_Del Del C - uc010bbl.2 PAK6_uc010bbm.2... Hybrid_Cap...
PAWR p.V166A 12 80083528 80083528 MFE296_ENDOMETR... 37 Missense_Mutation SNP A G uc001syx.2 Hybrid_Cap... view
PAX3 2 223065754 223065755 MFE296_ENDOMETR... 37 3'UTR Del AC - uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAXIP1 p.F100fs 7 154782740 154782740 MFE296_ENDOMETR... 37 Frame_Shift_Del Del A - uc003wlp.2 PAXIP1_uc003wlq... Hybrid_Cap...
PCM1 8 17813218 17813218 MFE296_ENDOMETR... 37 Intron Del T - uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap...
PCSK7 p.R141C 11 117100140 117100140 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc001pqr.2 Hybrid_Cap... view
PDCD11 p.R1779W 10 105204330 105204330 MFE296_ENDOMETR... 37 Missense_Mutation SNP C T uc001kwy.1 Hybrid_Cap... view
PDGFRA 4 55130162 55130164 MFE296_ENDOMETR... 37 Intron Del TTT - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PIK3C2A p.G1182_splice 11 17131978 17131978 MFE296_ENDOMETR... 37 Splice_Site_SNP SNP C T uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap... view
PIK3CA p.I20M 3 178916673 178916673 MFE296_ENDOMETR... 37 Missense_Mutation SNP C G uc003fjk.2 Hybrid_Cap... view
PIK3CA p.P539R 3 178936074 178936074 MFE296_ENDOMETR... 37 Missense_Mutation SNP C G uc003fjk.2 Hybrid_Cap... view
PIK3R1 5 67584513 67584513 MFE296_ENDOMETR... 37 Intron Del T - uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap...
PIP4K2A 10 22826070 22826070 MFE296_ENDOMETR... 37 3'UTR SNP C A uc001irl.3 PIP4K2A_uc010qc... Hybrid_Cap... view
PKN3 p.L690F 9 131480847 131480847 MFE296_ENDOMETR... 37 Missense_Mutation SNP C T uc004bvw.2 PKN3_uc010myh.2... Hybrid_Cap... view
PLEKHA5 p.L795S 12 19475537 19475537 MFE296_ENDOMETR... 37 Missense_Mutation SNP T C uc010sie.1 PLEKHA5_uc001re... Hybrid_Cap... view
PLEKHA5 p.L1157fs 12 19514518 19514518 MFE296_ENDOMETR... 37 Frame_Shift_Del Del A - uc010sie.1 PLEKHA5_uc001re... Hybrid_Cap...
PLK2 5 57755013 57755014 MFE296_ENDOMETR... 37 Intron Ins - A rs79105101 uc003jrn.2 PLK2_uc011cql.1... Hybrid_Cap...
PPM1E 17 57060352 57060352 MFE296_ENDOMETR... 37 3'UTR Del A - uc002iwx.2 PPM1E_uc010ddd.... Hybrid_Cap...
PPP3CB p.A197V 10 75231305 75231305 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc001juf.2 PPP3CB_uc001jue... Hybrid_Cap... view
PPP3R2 p.A98V 9 104356920 104356920 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc004bbr.2 GRIN3A_uc004bbp... Hybrid_Cap... view
PRKCA 17 64298959 64298960 MFE296_ENDOMETR... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKD2 p.R884C 19 47177797 47177797 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc010xye.1 PRKD2_uc002pfd.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 MFE296_ENDOMETR... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTEN p.R130Q 10 89692905 89692905 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc001kfb.2 Hybrid_Cap... view
PTEN p.T321fs 10 89720812 89720812 MFE296_ENDOMETR... 37 Frame_Shift_Del Del A - uc001kfb.2 Hybrid_Cap...
PTEN 10 89725294 89725294 MFE296_ENDOMETR... 37 3'UTR Del T - rs1044487 uc001kfb.2 Hybrid_Cap...
PTPN11 p.S142N 12 112891091 112891091 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc001ttx.2 PTPN11_uc001ttw... Hybrid_Cap... view
RAD50 p.L457fs 5 131925448 131925449 MFE296_ENDOMETR... 37 Frame_Shift_Ins Ins - A uc003kxi.2 RAD50_uc003kxh.... Hybrid_Cap...
RAPGEF2 4 160189201 160189202 MFE296_ENDOMETR... 37 5'UTR Del TT - uc003iqg.3 Hybrid_Cap...
RBPJ p.R43* 4 26407825 26407825 MFE296_ENDOMETR... 37 Nonsense_Mutation SNP C T uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 MFE296_ENDOMETR... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RGS22 p.Y1114C 8 100994184 100994184 MFE296_ENDOMETR... 37 Missense_Mutation SNP T C uc003yjb.1 RGS22_uc003yja.... Hybrid_Cap... view
RIMS2 8 104831718 104831719 MFE296_ENDOMETR... 37 5'UTR Ins - A uc003ylw.2 RIMS2_uc003ylp.... Hybrid_Cap...
RIOK1 p.Q92H 6 7393536 7393536 MFE296_ENDOMETR... 37 Missense_Mutation SNP G T uc003mxn.2 RIOK1_uc003mxm.... Hybrid_Cap... view
RIOK3 p.L439F 18 21057205 21057205 MFE296_ENDOMETR... 37 Missense_Mutation SNP G C uc002kui.3 RIOK3_uc010dls.... Hybrid_Cap... view
ROCK1 p.K1307fs 18 18533679 18533679 MFE296_ENDOMETR... 37 Frame_Shift_Del Del T - uc002kte.2 Hybrid_Cap...
RPL22 p.K15fs 1 6257785 6257785 MFE296_ENDOMETR... 37 Frame_Shift_Del Del T - uc001amd.2 RPL22_uc001ame.... Hybrid_Cap...
RPS6KA6 p.K109fs X 83403063 83403063 MFE296_ENDOMETR... 37 Frame_Shift_Del Del T - uc004eej.1 RPS6KA6_uc011mq... Hybrid_Cap...
RXRA p.P109fs 9 137300040 137300040 MFE296_ENDOMETR... 37 Frame_Shift_Del Del C - uc004cfb.2 RXRA_uc004cfc.1... Hybrid_Cap...
SACS p.R4448H 13 23904672 23904672 MFE296_ENDOMETR... 37 Missense_Mutation SNP C T uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SGK269 p.L259P 15 77473493 77473493 MFE296_ENDOMETR... 37 Missense_Mutation SNP A G uc002bcm.2 SGK269_uc002bcn... Hybrid_Cap... view
SHC1 p.V363fs 1 154938889 154938890 MFE296_ENDOMETR... 37 Frame_Shift_Ins Ins - C uc001ffw.2 SHC1_uc001ffu.2... Hybrid_Cap...
SLC22A3 p.F279fs 6 160829931 160829931 MFE296_ENDOMETR... 37 Frame_Shift_Del Del T - uc003qti.2 SLC22A3_uc011ef... Hybrid_Cap...
SPEG p.P1913fs 2 220347922 220347922 MFE296_ENDOMETR... 37 Frame_Shift_Del Del C - uc010fwg.2 Hybrid_Cap...
SPTAN1 p.K2163R 9 131388878 131388878 MFE296_ENDOMETR... 37 Missense_Mutation SNP A G uc004bvm.3 SPTAN1_uc004bvl... Hybrid_Cap... view
SRF 6 43147011 43147011 MFE296_ENDOMETR... 37 3'UTR SNP G A uc003oui.2 SRF_uc011dvf.1_... Hybrid_Cap... view
STK25 p.S278del 2 242438136 242438138 MFE296_ENDOMETR... 37 In_Frame_Del Del AGG - uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 MFE296_ENDOMETR... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAOK3 12 118693433 118693433 MFE296_ENDOMETR... 37 5'UTR Del T - uc001twx.2 TAOK3_uc001twy.... Hybrid_Cap...
TCERG1L p.P261T 10 133058597 133058597 MFE296_ENDOMETR... 37 Missense_Mutation SNP G T uc001lkp.2 TCERG1L_uc009ya... Hybrid_Cap... view
TFDP1 p.V271A 13 114290416 114290416 MFE296_ENDOMETR... 37 Missense_Mutation SNP T C uc001vtw.2 TFDP1_uc010tkd.... Hybrid_Cap... view
TMEM123 11 102269398 102269398 MFE296_ENDOMETR... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMPO 12 98928162 98928162 MFE296_ENDOMETR... 37 3'UTR Del A - uc001tfh.1 TMPO_uc001tfi.1... Hybrid_Cap...
TNIK 3 170819514 170819514 MFE296_ENDOMETR... 37 Intron Del A - uc003fhh.2 TNIK_uc003fhi.2... Hybrid_Cap...
TNRC6B p.Q1328del 22 40697177 40697179 MFE296_ENDOMETR... 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP53 p.R306* 17 7577022 7577022 MFE296_ENDOMETR... 37 Nonsense_Mutation SNP G A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP53 p.Y220C 17 7578190 7578190 MFE296_ENDOMETR... 37 Missense_Mutation SNP T C uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRIM33 1 114947958 114947958 MFE296_ENDOMETR... 37 Intron SNP G A uc001eew.2 TRIM33_uc010owr... Hybrid_Cap... view
TRIM42 p.K249N 3 140401709 140401709 MFE296_ENDOMETR... 37 Missense_Mutation SNP G T uc003eto.1 Hybrid_Cap... view
TRPM7 p.P309fs 15 50926659 50926660 MFE296_ENDOMETR... 37 Frame_Shift_Ins Ins - G uc001zyt.3 TRPM7_uc010bew.... Hybrid_Cap...
TRPS1 p.V299fs 8 116631427 116631428 MFE296_ENDOMETR... 37 Frame_Shift_Del Del AC - uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTK p.E851fs 6 80751897 80751898 MFE296_ENDOMETR... 37 Frame_Shift_Del Del AA - uc003pjc.2 TTK_uc003pjb.3_... Hybrid_Cap...
TTL p.V351M 2 113286289 113286289 MFE296_ENDOMETR... 37 Missense_Mutation SNP G A uc002thu.2 TTL_uc010fkm.1_... Hybrid_Cap... view
TTN p.P31823fs 2 179398170 179398170 MFE296_ENDOMETR... 37 Frame_Shift_Del Del G - uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.V19955L 2 179444357 179444357 MFE296_ENDOMETR... 37 Missense_Mutation SNP C G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.T17545A 2 179456115 179456115 MFE296_ENDOMETR... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.G17376D 2 179456800 179456800 MFE296_ENDOMETR... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.Q7954R 2 179577056 179577056 MFE296_ENDOMETR... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
ULK2 p.E971A 17 19683789 19683789 MFE296_ENDOMETR... 37 Missense_Mutation SNP T G uc002gwm.3 ULK2_uc002gwn.2... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 MFE296_ENDOMETR... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VRK2 p.E361fs 2 58373509 58373509 MFE296_ENDOMETR... 37 Frame_Shift_Del Del A - uc002rzo.2 VRK2_uc010fcb.2... Hybrid_Cap...
WNK1 p.TSS1848del 12 1003758 1003766 MFE296_ENDOMETR... 37 In_Frame_Del Del CAACT... - uc001qio.3 WNK1_uc001qip.3... Hybrid_Cap...
WNK2 p.P1576fs 9 96051651 96051651 MFE296_ENDOMETR... 37 Frame_Shift_Del Del C - uc004ati.1 WNK2_uc011lud.1... Hybrid_Cap...
XPA 9 100437634 100437634 MFE296_ENDOMETR... 37 3'UTR Del T - uc004axr.3 XPA_uc004axs.3_... Hybrid_Cap...
YSK4 p.Y920C 2 135743683 135743683 MFE296_ENDOMETR... 37 Missense_Mutation SNP T C uc002tue.1 YSK4_uc002tuf.1... Hybrid_Cap... view
ZAP70 2 98351184 98351184 MFE296_ENDOMETR... 37 Intron SNP G A uc002syd.1 ZAP70_uc010yvf.... Hybrid_Cap... view
ZMYM2 p.K1042fs 13 20638677 20638677 MFE296_ENDOMETR... 37 Frame_Shift_Del Del A - uc001umr.2 ZMYM2_uc001ums.... Hybrid_Cap...