Annotation Summary for Cell Line: SNG-M  

Cell line primary name: SNG-M
Cell line aliases:
Gender: F
Site Primary: endometrium
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: HSRRB
Expression arrays: AGENT_p_NCLE_RNA6_HG-U133_Plus_2_C10_436514
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_G08_437484
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SNG-M

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 SNGM_ENDOMETRIU... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABI1 10 27037488 27037488 SNGM_ENDOMETRIU... 37 3'UTR Del A - rs75446996 uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap...
ABL2 1 179086420 179086420 SNGM_ENDOMETRIU... 37 Intron Del A - uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap...
ABL2 p.T382I 1 179087800 179087800 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap... view
ACOXL p.R163Q 2 111556618 111556618 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc010yxk.1 ACOXL_uc010fkc.... Hybrid_Cap... view
ACVR1B 12 52385977 52385977 SNGM_ENDOMETRIU... 37 Intron SNP G T uc010snn.1 ACVR1B_uc001rzm... Hybrid_Cap... view
ADAM28 8 24211994 24211997 SNGM_ENDOMETRIU... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM32 p.Q386fs 8 39068767 39068767 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del A - uc003xmt.3 ADAM32_uc011lch... Hybrid_Cap...
ADAM32 p.C413Y 8 39079133 39079133 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003xmt.3 ADAM32_uc011lch... Hybrid_Cap... view
ADAMTS18 p.F695fs 16 77356311 77356311 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del A - uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap...
ADAMTS2 p.D561Y 5 178566985 178566985 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C A uc003mjw.2 Hybrid_Cap... view
AFF1 p.A978fs 4 88048824 88048825 SNGM_ENDOMETRIU... 37 Frame_Shift_Ins Ins - A uc011ccz.1 AFF1_uc003hqj.3... Hybrid_Cap...
AIFM1 p.G261* X 129274508 129274508 SNGM_ENDOMETRIU... 37 Nonsense_Mutation SNP C A uc004evg.2 AIFM1_uc011mur.... Hybrid_Cap... view
AIFM3 p.G203D 22 21328993 21328993 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc002ztj.2 AIFM3_uc002ztk.... Hybrid_Cap... view
AKAP12 p.G695W 6 151671609 151671609 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G T uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 SNGM_ENDOMETRIU... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.M681I 7 91631274 91631274 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap... view
AKT3 p.G155D 1 243801010 243801010 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc001iab.1 AKT3_uc001hzz.1... Hybrid_Cap... view
ALPK3 p.R321H 15 85382262 85382262 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc002ble.2 Hybrid_Cap... view
ALS2 p.G414S 2 202622356 202622356 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap... view
ALS2 p.A310T 2 202625789 202625789 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap... view
APAF1 12 99042115 99042115 SNGM_ENDOMETRIU... 37 5'UTR SNP G A uc001tfz.2 APAF1_uc001tfy.... Hybrid_Cap... view
APC p.A2V 5 112090592 112090592 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
ARHGAP29 1 94643144 94643144 SNGM_ENDOMETRIU... 37 Intron Del T - uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap...
ARHGAP29 p.R505C 1 94654835 94654835 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap... view
ARHGEF10 p.S480L 8 1842737 1842737 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap... view
ARID1A p.G1848fs 1 27105931 27105931 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del G - uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap...
ARID1A p.P2139fs 1 27106804 27106804 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del C - uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap...
ATP10A p.G1045S 15 25936894 25936894 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc010ayu.2 Hybrid_Cap... view
ATR 3 142171952 142171952 SNGM_ENDOMETRIU... 37 Intron SNP G T uc003eux.3 ATR_uc003euy.1_... Hybrid_Cap... view
ATRX p.T1582fs X 76890149 76890150 SNGM_ENDOMETRIU... 37 Frame_Shift_Ins Ins - T uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap...
AURKC 19 57742494 57742507 SNGM_ENDOMETRIU... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BAP1 p.R417M 3 52438469 52438469 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C A uc003ddx.2 BAP1_uc003ddw.2... Hybrid_Cap... view
BAP1 p.G13D 3 52443759 52443759 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc003ddx.2 PHF7_uc003ddy.2... Hybrid_Cap... view
BAX 19 49464508 49464510 SNGM_ENDOMETRIU... 37 3'UTR Del TTT - uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap...
BCAR1 p.V258_splice 16 75271244 75271244 SNGM_ENDOMETRIU... 37 Splice_Site_SNP SNP T C uc010vnb.1 BCAR1_uc002fdt.... Hybrid_Cap... view
BCKDK p.G365S 16 31123347 31123347 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc002eaw.3 BCKDK_uc002eav.... Hybrid_Cap... view
BCL9 p.L883P 1 147092609 147092609 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP T C uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap... view
BCL9 p.E1279K 1 147096314 147096314 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap... view
BCR 22 23631811 23631811 SNGM_ENDOMETRIU... 37 Intron Del G - uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BIRC3 p.R493T 11 102206850 102206850 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G C uc001pgx.2 Hybrid_Cap... view
BIRC6 p.I856V 2 32640925 32640925 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP A G uc010ezu.2 Hybrid_Cap... view
BRD3 p.P24fs 9 136918529 136918529 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del G - uc004cew.2 BRD3_uc004cex.2... Hybrid_Cap...
BRD4 p.A751T 19 15355372 15355372 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002nar.2 Hybrid_Cap... view
BRIP1 p.V648I 17 59853917 59853917 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002izk.1 BRIP1_uc002izl.... Hybrid_Cap... view
BRSK2 p.K585Q 11 1475785 1475785 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP A C uc001ltm.2 BRSK2_uc009ycv.... Hybrid_Cap... view
C15ORF55 p.V359_splice 15 34646075 34646075 SNGM_ENDOMETRIU... 37 Splice_Site_SNP SNP T C uc010ucc.1 C15orf55_uc010u... Hybrid_Cap... view
CABC1 1 227171727 227171727 SNGM_ENDOMETRIU... 37 Intron SNP G T uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap... view
CAD p.T201I 2 27445493 27445493 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002rji.2 CAD_uc010eyw.2_... Hybrid_Cap... view
CARD11 p.R818W 7 2959064 2959064 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003smv.2 Hybrid_Cap... view
CARD14 p.R941W 17 78181950 78181950 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002jxw.1 CARD14_uc002jxt... Hybrid_Cap... view
CASK p.K20T X 41782183 41782183 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP T G uc004dfl.3 CASK_uc004dfm.3... Hybrid_Cap... view
CASP1 p.S81N 11 104904967 104904967 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc010rve.1 CASP1_uc001pig.... Hybrid_Cap... view
CCNG1 p.R82* 5 162866506 162866506 SNGM_ENDOMETRIU... 37 Nonsense_Mutation SNP A T uc003lzb.2 CCNG1_uc011dek.... Hybrid_Cap... view
CCNT1 p.M71T 12 49108257 49108257 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP A G uc001rse.1 CCNT1_uc009zkz.... Hybrid_Cap... view
CCR5 3 46415521 46415521 SNGM_ENDOMETRIU... 37 3'UTR SNP G T uc003cpo.3 CCR5_uc010hjd.2... Hybrid_Cap... view
CDC42BPA p.C678C 1 227288908 227288908 SNGM_ENDOMETRIU... 37 Silent SNP G A uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDH3 p.R221* 16 68712779 68712779 SNGM_ENDOMETRIU... 37 Nonsense_Mutation SNP C T uc002ewf.2 CDH3_uc010vli.1... Hybrid_Cap... view
CDK13 p.M1476T 7 40134467 40134467 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP T C uc003thh.3 CDK13_uc003thi.... Hybrid_Cap... view
CDK16 X 47085436 47085436 SNGM_ENDOMETRIU... 37 Intron SNP G T uc011mll.1 CDK16_uc011mli.... Hybrid_Cap... view
CDK18 p.Q85fs 1 205492734 205492735 SNGM_ENDOMETRIU... 37 Frame_Shift_Ins Ins - GC uc001hcr.2 CDK18_uc009xbk.... Hybrid_Cap...
CDK5 p.R149* 7 150752657 150752657 SNGM_ENDOMETRIU... 37 Nonsense_Mutation SNP G A uc003wir.1 CDK5_uc003wis.1... Hybrid_Cap... view
CDKL4 p.L87P 2 39453010 39453010 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP A G uc010fal.1 CDKL4_uc002rrm.... Hybrid_Cap... view
CEP110 9 123914650 123914650 SNGM_ENDOMETRIU... 37 Intron Del T - uc004bkx.1 CEP110_uc004bla... Hybrid_Cap...
CHD1 5 98208017 98208017 SNGM_ENDOMETRIU... 37 Intron Del T - uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD9 p.K2429fs 16 53348351 53348351 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del A - uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap...
CHD9 p.V1341G 16 53288510 53288510 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP T G uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CIC p.R181W 19 42791560 42791560 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002otf.1 Hybrid_Cap... view
CIITA p.Q21H 16 10989149 10989149 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G C uc002daj.3 CIITA_uc002dai.... Hybrid_Cap... view
CIT p.K626E 12 120214173 120214173 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP T C uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 SNGM_ENDOMETRIU... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN5 p.L1000S 11 100211906 100211906 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP T C uc001pga.2 CNTN5_uc001pgb.... Hybrid_Cap... view
COL18A1 p.E455K 21 46888167 46888167 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc011afs.1 COL18A1_uc002zh... Hybrid_Cap... view
COL4A3BP p.A666V 5 74677778 74677778 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003kdt.2 COL4A3BP_uc011c... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 SNGM_ENDOMETRIU... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CREBBP p.R1664H 16 3781374 3781374 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CREBBP p.T244M 16 3900365 3900365 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CSF1R 5 149433399 149433399 SNGM_ENDOMETRIU... 37 3'UTR Del G - rs3216780 uc003lrl.2 CSF1R_uc011dcd.... Hybrid_Cap...
CSF3 17 38171901 38171901 SNGM_ENDOMETRIU... 37 Intron SNP G A uc002htp.2 CSF3_uc002hto.2... Hybrid_Cap... view
CSK p.R56H 15 75091204 75091204 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc010bkb.1 CSK_uc010bka.2_... Hybrid_Cap... view
CSNK1A1L p.Y262* 13 37678608 37678608 SNGM_ENDOMETRIU... 37 Nonsense_Mutation SNP G C uc001uwm.1 Hybrid_Cap... view
CSPG4 p.G1519R 15 75975277 75975277 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002baw.2 Hybrid_Cap... view
CSPP1 p.C22Y 8 67976698 67976698 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003xxi.2 CSPP1_uc003xxg.... Hybrid_Cap... view
CTNNB1 p.S37P 3 41266112 41266112 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP T C uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
CYLD p.W16R 16 50783655 50783655 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP T C uc002egp.1 CYLD_uc002egn.1... Hybrid_Cap... view
CYP17A1 p.R21M 10 104597057 104597057 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C A rs61754263 uc001kwg.2 Hybrid_Cap... view
CYP2B6 p.R35H 19 41497314 41497314 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc002opr.1 CYP2A7_uc002opo... Hybrid_Cap... view
DBF4 p.K140K 7 87516179 87516179 SNGM_ENDOMETRIU... 37 Silent SNP A G uc003ujf.1 DBF4_uc003ujh.1... Hybrid_Cap... view
DDR2 p.R105C 1 162724541 162724541 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap... view
DDX6 11 118629769 118629769 SNGM_ENDOMETRIU... 37 Intron SNP T A uc001pub.2 DDX6_uc001pua.2... Hybrid_Cap... view
DFFB p.T53M 1 3775325 3775325 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc010nzn.1 DFFB_uc001alc.2... Hybrid_Cap... view
DICER1 p.A553T 14 95582885 95582885 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc001ydw.2 DICER1_uc001ydv... Hybrid_Cap... view
DIP2C p.G674G 10 415543 415543 SNGM_ENDOMETRIU... 37 Silent SNP G C rs77317371 uc001ifp.2 DIP2C_uc009xhi.... Hybrid_Cap... view
DNAH8 p.S346P 6 38738258 38738258 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP T C uc003ooe.1 Hybrid_Cap... view
DNAH8 p.S446N 6 38746189 38746189 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003ooe.1 Hybrid_Cap... view
DUSP6 p.A129S 12 89745432 89745432 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C A uc001tay.2 DUSP6_uc001taz.... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 SNGM_ENDOMETRIU... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
DYRK2 p.M282T 12 68051532 68051532 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP T C uc001str.3 DYRK2_uc001sts.... Hybrid_Cap... view
EGF p.E1134fs 4 110932389 110932390 SNGM_ENDOMETRIU... 37 Frame_Shift_Ins Ins - C rs11569144 uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap...
EIF3H p.G254fs 8 117661152 117661153 SNGM_ENDOMETRIU... 37 Frame_Shift_Ins Ins - C uc003yob.2 EIF3H_uc003yoa.... Hybrid_Cap...
EIF4A1 p.G13V 17 7477592 7477592 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G T uc002gho.1 EIF4A1_uc002ghr... Hybrid_Cap... view
EIF4A2 p.N394N 3 186507013 186507013 SNGM_ENDOMETRIU... 37 Silent SNP T C uc003fqu.2 EIF4A2_uc003fqs... Hybrid_Cap... view
EIF4G1 p.G196R 3 184038445 184038445 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc010hxx.2 EIF4G1_uc003fno... Hybrid_Cap... view
ELAVL1 19 8056701 8056701 SNGM_ENDOMETRIU... 37 5'UTR SNP G A uc002mjb.2 Hybrid_Cap... view
ELK1 X 47500596 47500596 SNGM_ENDOMETRIU... 37 Intron Del G - uc004dik.3 ELK1_uc010nhv.2... Hybrid_Cap...
EPHA4 p.R789Q 2 222298992 222298992 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 SNGM_ENDOMETRIU... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERC1 12 1221474 1221474 SNGM_ENDOMETRIU... 37 Intron SNP G A uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap... view
ERCC6 p.R1404C 10 50667133 50667133 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001jhs.3 ERCC6_uc009xod.... Hybrid_Cap... view
ETV1 7 14028708 14028708 SNGM_ENDOMETRIU... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
EWSR1 22 29687622 29687622 SNGM_ENDOMETRIU... 37 Intron Del A - uc003aev.2 EWSR1_uc003aet.... Hybrid_Cap...
F8 p.V2242M X 154088883 154088883 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc004fmt.2 F8_uc004fms.2_M... Hybrid_Cap... view
FANCA p.V523_splice 16 89849328 89849328 SNGM_ENDOMETRIU... 37 Splice_Site_SNP SNP T G uc002fou.1 FANCA_uc010vpn.... Hybrid_Cap... view
FANCD2 p.L700R 3 10106490 10106490 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP T G uc003buw.2 FANCD2_uc003bux... Hybrid_Cap... view
FANCF p.E232G 11 22646662 22646662 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP T C uc001mql.1 Hybrid_Cap... view
FANCG p.A153G 9 35078190 35078190 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G C uc003zwb.1 FANCG_uc003zwa.... Hybrid_Cap... view
FBN2 p.M702I 5 127705017 127705017 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap... view
FBN2 p.D548A 5 127714544 127714544 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP T G uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap... view
FES p.D405G 15 91433486 91433486 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP A G uc002bpv.2 FES_uc010uqj.1_... Hybrid_Cap... view
FGFR3 p.V306I 4 1803738 1803738 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap... view
FGFR3 4 1809128 1809129 SNGM_ENDOMETRIU... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 SNGM_ENDOMETRIU... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNA p.S1563N X 153586634 153586634 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc004fkk.2 FLNA_uc011mzn.1... Hybrid_Cap... view
FLNB p.R553C 3 58090853 58090853 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FLNC p.A403V 7 128478481 128478481 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FLNC p.K1910N 7 128491570 128491570 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G T uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FLT4 p.D818Y 5 180047263 180047263 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C A uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap... view
FMN2 p.IPLPPPLPGAG968del 1 240371002 240371034 SNGM_ENDOMETRIU... 37 In_Frame_Del Del ATACC... - uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244140 216244140 SNGM_ENDOMETRIU... 37 Intron SNP C T uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
FN1 p.A1164V 2 216262429 216262429 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
FZD1 p.93_94insP 7 90894459 90894460 SNGM_ENDOMETRIU... 37 In_Frame_Ins Ins - CCG uc003ula.2 Hybrid_Cap...
GLI3 7 42262856 42262856 SNGM_ENDOMETRIU... 37 5'UTR SNP G A uc011kbh.1 Hybrid_Cap... view
GLTSCR1 p.T652fs 19 48184382 48184382 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del C - uc002phh.3 GLTSCR1_uc002ph... Hybrid_Cap...
GLTSCR1 p.P935fs 19 48197891 48197891 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del C - uc002phh.3 GLTSCR1_uc002ph... Hybrid_Cap...
GMPS p.V241_splice 3 155628901 155628901 SNGM_ENDOMETRIU... 37 Splice_Site_SNP SNP A T uc003faq.2 GMPS_uc011bom.1... Hybrid_Cap... view
GPR112 p.H1003Y X 135428872 135428872 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 SNGM_ENDOMETRIU... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GPR119 p.R81W X 129519181 129519181 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc011muv.1 Hybrid_Cap... view
GRB2 p.F62fs 17 73322091 73322092 SNGM_ENDOMETRIU... 37 Frame_Shift_Ins Ins - A uc002jnx.3 GRB2_uc002jny.3... Hybrid_Cap...
GRIA3 X 122318386 122318387 SNGM_ENDOMETRIU... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRK4 p.Q219fs 4 3015470 3015470 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del A - uc003ggn.1 GRK4_uc003ggo.1... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SNGM_ENDOMETRIU... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
GUCY2F p.E929_splice X 108631890 108631890 SNGM_ENDOMETRIU... 37 Splice_Site_SNP SNP T C rs56252179 uc004eod.3 GUCY2F_uc011msq... Hybrid_Cap... view
HDAC2 p.G101G 6 114292052 114292052 SNGM_ENDOMETRIU... 37 Silent SNP G A uc003pwd.1 HDAC2_uc003pwc.... Hybrid_Cap... view
HERC2 p.G3970V 15 28386684 28386684 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C A uc001zbj.2 Hybrid_Cap... view
HERC2 p.A2136T 15 28459371 28459371 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc001zbj.2 Hybrid_Cap... view
HGF p.R393H 7 81350154 81350154 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc003uhl.2 HGF_uc003uhm.2_... Hybrid_Cap... view
HLF 17 53345077 53345077 SNGM_ENDOMETRIU... 37 Intron Del T - uc002iug.1 HLF_uc010dce.1_... Hybrid_Cap...
HMGA2 12 66308814 66308814 SNGM_ENDOMETRIU... 37 3'UTR SNP C T uc001ssu.1 HMGA2_uc001ssw.... Hybrid_Cap... view
HMMR p.A664fs 5 162917425 162917426 SNGM_ENDOMETRIU... 37 Frame_Shift_Ins Ins - A uc003lzh.2 HMMR_uc003lzf.2... Hybrid_Cap...
HNF1A 12 121434630 121434631 SNGM_ENDOMETRIU... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90AB1 p.G92D 6 44217241 44217241 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003oxa.1 HSP90AB1_uc011d... Hybrid_Cap... view
IGF1R p.R252C 15 99434667 99434667 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap... view
IGF1R p.S501S 15 99454584 99454584 SNGM_ENDOMETRIU... 37 Silent SNP G A uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap... view
ILK 11 6630029 6630029 SNGM_ENDOMETRIU... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB4 p.D198fs 17 73725372 73725373 SNGM_ENDOMETRIU... 37 Frame_Shift_Ins Ins - C uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap...
ITIH5L p.H1085fs X 54780182 54780183 SNGM_ENDOMETRIU... 37 Frame_Shift_Ins Ins - G uc004dtj.2 Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 SNGM_ENDOMETRIU... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JARID2 p.S886L 6 15507482 15507482 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc003nbj.2 JARID2_uc011div... Hybrid_Cap... view
JARID2 p.S1004G 6 15512496 15512496 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP A G uc003nbj.2 JARID2_uc011div... Hybrid_Cap... view
JUN 1 59247730 59247730 SNGM_ENDOMETRIU... 37 3'UTR Del C - uc001cze.2 Hybrid_Cap...
KLK7 19 51480672 51480675 SNGM_ENDOMETRIU... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KRAS p.G12V 12 25398284 25398284 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C A uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
KSR2 p.R614Q 12 117962948 117962948 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc001two.2 Hybrid_Cap... view
LAMA1 p.S1887_splice 18 6983234 6983234 SNGM_ENDOMETRIU... 37 Splice_Site_SNP SNP C T uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LMNA p.A339A 1 156105772 156105772 SNGM_ENDOMETRIU... 37 Silent SNP G A rs17847242 uc001fni.2 LMNA_uc001fnf.1... Hybrid_Cap... view
LMTK2 p.G1186V 7 97823334 97823334 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G T uc003upd.1 Hybrid_Cap... view
LMTK3 p.R863Q 19 49001825 49001825 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002pjk.2 Hybrid_Cap... view
LRP1 p.P4190fs 12 57603940 57603940 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del C - uc001snd.2 Hybrid_Cap...
LRP1B p.D3192N 2 141232758 141232758 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002tvj.1 Hybrid_Cap... view
LRP2 p.C1000F 2 170103406 170103406 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C A uc002ues.2 LRP2_uc010zdf.1... Hybrid_Cap... view
LRRC2 p.R235W 3 46571465 46571465 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc010hji.2 LRRC2_uc003cpu.... Hybrid_Cap... view
LRRK2 p.A369A 12 40645272 40645272 SNGM_ENDOMETRIU... 37 Silent SNP C T uc001rmg.3 LRRK2_uc001rmh.... Hybrid_Cap... view
LRRK2 p.V2152I 12 40745413 40745413 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001rmg.3 LRRK2_uc009zjw.... Hybrid_Cap... view
MAMDC4 p.T610I 9 139751270 139751270 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc004cjs.2 MAMDC4_uc011mej... Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 SNGM_ENDOMETRIU... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 SNGM_ENDOMETRIU... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 SNGM_ENDOMETRIU... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP2K1 p.G80S 15 66727522 66727522 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc010bhq.2 MAP2K1_uc010ujp... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 SNGM_ENDOMETRIU... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K3 17 61771378 61771378 SNGM_ENDOMETRIU... 37 3'UTR SNP G C uc002jbe.2 MAP3K3_uc002jbf... Hybrid_Cap... view
MAP3K4 p.K1385E 6 161529808 161529808 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP A G uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap... view
MAP3K5 p.T1186I 6 136888973 136888973 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap... view
MAP3K6 p.P848fs 1 27685239 27685239 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del G - uc001bny.1 MAP3K6_uc009vsw... Hybrid_Cap...
MAP3K7 6 91226170 91226170 SNGM_ENDOMETRIU... 37 3'UTR Del A - uc003pnz.1 MAP3K7_uc003pny... Hybrid_Cap...
MAP4K4 2 102507895 102507895 SNGM_ENDOMETRIU... 37 3'UTR Del T - uc002tbc.2 MAP4K4_uc002tbd... Hybrid_Cap...
MAPK10 p.A329_splice 4 86988924 86988924 SNGM_ENDOMETRIU... 37 Splice_Site_SNP SNP A G uc003hpq.2 MAPK10_uc010ikg... Hybrid_Cap... view
MAPK3 p.Q44P 16 30134400 30134400 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP T G uc002dws.2 BOLA2_uc010bzb.... Hybrid_Cap... view
MAPK4 p.S316L 18 48252425 48252425 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002lev.2 MAPK4_uc010xdm.... Hybrid_Cap... view
MAPK4 p.A341V 18 48252500 48252500 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002lev.2 MAPK4_uc010xdm.... Hybrid_Cap... view
MAPK7 p.L669F 17 19285621 19285621 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002gvn.2 MAPK7_uc002gvo.... Hybrid_Cap... view
MAPK8IP2 p.R732fs 22 51045156 51045156 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del G - uc003bmx.2 MAPK8IP2_uc003b... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 SNGM_ENDOMETRIU... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAST4 p.N1149D 5 66459019 66459019 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP A G uc003jut.1 MAST4_uc003juw.... Hybrid_Cap... view
MCL1 1 150549737 150549744 SNGM_ENDOMETRIU... 37 3'UTR Del GCTAG... - rs116997851 uc001euz.2 MCL1_uc010pch.1... Hybrid_Cap...
MED13L p.C321R 12 116457077 116457077 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP A G uc001tvw.2 Hybrid_Cap... view
MKNK1 p.A178V 1 47037172 47037172 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001cqb.2 MKNK1_uc010omd.... Hybrid_Cap... view
MLKL p.R319_splice 16 74712880 74712880 SNGM_ENDOMETRIU... 37 Splice_Site_SNP SNP T C uc002fdb.2 MLKL_uc002fdc.2... Hybrid_Cap... view
MLLT3 p.S168S 9 20414340 20414340 SNGM_ENDOMETRIU... 37 Silent SNP G A uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap... view
MRE11A p.A440T 11 94194110 94194110 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc001peu.2 MRE11A_uc001pev... Hybrid_Cap... view
MSH3 p.K381fs 5 79970915 79970915 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del A - uc003kgz.2 Hybrid_Cap...
MSH6 p.T1085fs 2 48030640 48030640 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del C - uc002rwd.3 MSH6_uc010fbj.2... Hybrid_Cap...
MSH6 p.T1219I 2 48033352 48033352 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T rs63750949 uc002rwd.3 MSH6_uc010fbj.2... Hybrid_Cap... view
MTMR11 1 149900986 149900987 SNGM_ENDOMETRIU... 37 3'UTR Del AA - uc001etl.3 SF3B4_uc001etj.... Hybrid_Cap...
MTOR p.G1822V 1 11190734 11190734 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C A uc001asd.2 MTOR_uc001asc.2... Hybrid_Cap... view
MUTYH 1 45806023 45806023 SNGM_ENDOMETRIU... 37 5'UTR SNP A T uc009vxp.2 MUTYH_uc001cnf.... Hybrid_Cap... view
MYH1 p.M826T 17 10408341 10408341 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP A G uc002gmo.2 Hybrid_Cap... view
MYH9 p.Q1238* 22 36690263 36690263 SNGM_ENDOMETRIU... 37 Nonsense_Mutation SNP G A uc003apg.2 Hybrid_Cap... view
MYH9 p.E530K 22 36708234 36708234 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc003apg.2 MYH9_uc003aph.1... Hybrid_Cap... view
MYLK p.A1127T 3 123418936 123418936 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 SNGM_ENDOMETRIU... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYLK p.G847V 3 123419775 123419775 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C A uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap... view
MYO3B p.M760L 2 171260757 171260757 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP A C uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
NAV3 p.R398fs 12 78400511 78400512 SNGM_ENDOMETRIU... 37 Frame_Shift_Ins Ins - C uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap...
NCAM1 11 112832307 112832308 SNGM_ENDOMETRIU... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SNGM_ENDOMETRIU... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA2 p.R1329* 8 71037032 71037032 SNGM_ENDOMETRIU... 37 Nonsense_Mutation SNP G A uc003xyn.1 NCOA2_uc011lfb.... Hybrid_Cap... view
NCOA2 p.Q894* 8 71057009 71057009 SNGM_ENDOMETRIU... 37 Nonsense_Mutation SNP G A uc003xyn.1 NCOA2_uc011lfb.... Hybrid_Cap... view
NCOA3 p.V1226I 20 46279750 46279750 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap... view
NCOA3 p.Q1276del 20 46279864 46279866 SNGM_ENDOMETRIU... 37 In_Frame_Del Del CAA - rs1132443;rs28529067 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEDD9 6 11185382 11185383 SNGM_ENDOMETRIU... 37 3'UTR Ins - T uc003mzv.2 NEDD9_uc010joz.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SNGM_ENDOMETRIU... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK9 14 75573088 75573088 SNGM_ENDOMETRIU... 37 Intron SNP A G uc001xrl.2 NEK9_uc001xrk.2... Hybrid_Cap... view
NFATC1 p.S50F 18 77170424 77170424 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc010xfg.1 NFATC1_uc002lnc... Hybrid_Cap... view
NFIA 1 61921186 61921186 SNGM_ENDOMETRIU... 37 3'UTR Del T - rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NFKB1 p.D917_splice 4 103534740 103534741 SNGM_ENDOMETRIU... 37 Splice_Site_Ins Ins - A rs35795162 uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap...
NFKBIA 14 35871169 35871169 SNGM_ENDOMETRIU... 37 3'UTR Del T - uc001wtf.3 NFKBIA_uc001wte... Hybrid_Cap...
NIN p.N435fs 14 51237236 51237236 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del T - uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap...
NIPBL 5 37051862 37051862 SNGM_ENDOMETRIU... 37 Intron Del T - uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap...
NLRP3 p.L355M 1 247587808 247587808 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C A uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NLRP3 p.G863R 1 247599360 247599360 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NLRP6 p.T734_splice 11 284229 284229 SNGM_ENDOMETRIU... 37 Splice_Site_SNP SNP G T uc010qvs.1 NLRP6_uc010qvt.... Hybrid_Cap... view
NOS2 17 26084192 26084192 SNGM_ENDOMETRIU... 37 3'UTR SNP G T uc002gzu.2 Hybrid_Cap... view
NOVA1 14 26939610 26939610 SNGM_ENDOMETRIU... 37 Intron SNP A T uc001wpy.2 NOVA1_uc001wpz.... Hybrid_Cap... view
NPAT p.R230Q 11 108057246 108057246 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc001pjz.3 NPAT_uc001pka.2... Hybrid_Cap... view
NPR1 1 153665919 153665920 SNGM_ENDOMETRIU... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 SNGM_ENDOMETRIU... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SNGM_ENDOMETRIU... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 SNGM_ENDOMETRIU... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRK p.Q961R X 105167381 105167381 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP A G uc004emd.2 NRK_uc010npc.1_... Hybrid_Cap... view
NSD1 p.T145I 5 176562538 176562538 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc003mfr.3 NSD1_uc003mft.3... Hybrid_Cap... view
NSD1 p.A2268V 5 176721172 176721172 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc003mfr.3 NSD1_uc003mft.3... Hybrid_Cap... view
NUMA1 p.P1765fs 11 71718403 71718403 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del G - uc001orl.1 NUMA1_uc001orj.... Hybrid_Cap...
NUP214 p.T1826A 9 134074357 134074357 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP A G uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
OBSCN p.G6991fs 1 228559450 228559450 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del G - uc009xez.1 OBSCN_uc001hsr.... Hybrid_Cap...
PAK1 p.T292I 11 77060294 77060294 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001oyg.3 PAK1_uc010rso.1... Hybrid_Cap... view
PAPPA p.R1361Q 9 119115102 119115102 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc004bjn.2 PAPPA_uc011lxq.... Hybrid_Cap... view
PAX3 2 223066017 223066018 SNGM_ENDOMETRIU... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223066039 223066039 SNGM_ENDOMETRIU... 37 Intron Del T - uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 SNGM_ENDOMETRIU... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCM1 8 17813218 17813218 SNGM_ENDOMETRIU... 37 Intron Del T - uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap...
PDCD1 p.P35fs 2 242795104 242795104 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del G - rs41444844 uc002wcq.3 PDCD1_uc010fzs.... Hybrid_Cap...
PDE4DIP p.A1183V 1 144882471 144882471 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDE4DIP 1 144892096 144892096 SNGM_ENDOMETRIU... 37 Intron SNP G A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFRA 4 55130162 55130162 SNGM_ENDOMETRIU... 37 Intron Del T - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PI4K2B p.K140N 4 25254094 25254094 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G T uc003grk.2 PI4K2B_uc011bxs... Hybrid_Cap... view
PI4KB p.E802G 1 151265410 151265410 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP T C uc001exr.2 PI4KB_uc001exs.... Hybrid_Cap... view
PIK3CA p.R88Q 3 178916876 178916876 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003fjk.2 Hybrid_Cap... view
PIK3R4 p.W1225C 3 130400368 130400368 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C A uc003enj.2 Hybrid_Cap... view
PKHD1 p.L1331M 6 51890617 51890617 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G T uc003pah.1 PKHD1_uc003pai.... Hybrid_Cap... view
PKN1 p.R377* 19 14562781 14562781 SNGM_ENDOMETRIU... 37 Nonsense_Mutation SNP C T uc002myq.2 PKN1_uc002myp.2... Hybrid_Cap... view
PKN2 p.T73I 1 89206840 89206840 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc001dmn.2 PKN2_uc001dmm.1... Hybrid_Cap... view
PLK3 1 45271466 45271466 SNGM_ENDOMETRIU... 37 3'UTR SNP T G uc001cmn.2 PLK3_uc001cmo.2... Hybrid_Cap... view
PMS1 2 190670540 190670540 SNGM_ENDOMETRIU... 37 Intron Del A - uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
POLG 15 89859551 89859551 SNGM_ENDOMETRIU... 37 3'UTR Del T - uc002bns.3 FANCI_uc010bnp.... Hybrid_Cap...
POU2AF1 p.R36Q 11 111229553 111229553 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc001plg.3 Hybrid_Cap... view
PPM1E 17 57060352 57060352 SNGM_ENDOMETRIU... 37 3'UTR Del A - uc002iwx.2 PPM1E_uc010ddd.... Hybrid_Cap...
PPP1R3A p.Y785H 7 113518794 113518794 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP A G uc010ljy.1 Hybrid_Cap... view
PPP1R3A p.S649G 7 113519202 113519202 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP T C uc010ljy.1 Hybrid_Cap... view
PPP3CB 10 75197903 75197903 SNGM_ENDOMETRIU... 37 3'UTR SNP C T uc001juf.2 PPP3CB_uc001jue... Hybrid_Cap... view
PRKCA p.L403Q 17 64731758 64731758 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP T A uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SNGM_ENDOMETRIU... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRPF4B p.H43fs 6 4031880 4031881 SNGM_ENDOMETRIU... 37 Frame_Shift_Ins Ins - A uc003mvv.2 PRPF4B_uc011dhv... Hybrid_Cap...
PTEN p.K163fs 10 89693003 89693003 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del A - uc001kfb.2 Hybrid_Cap...
PTEN p.E288fs 10 89720712 89720712 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del A - uc001kfb.2 Hybrid_Cap...
PTEN 10 89725294 89725294 SNGM_ENDOMETRIU... 37 3'UTR Del T - rs1044487 uc001kfb.2 Hybrid_Cap...
PTK2B 8 27288714 27288714 SNGM_ENDOMETRIU... 37 Intron SNP A G uc003xfn.1 PTK2B_uc003xfo.... Hybrid_Cap... view
RAG1 p.V745I 11 36597087 36597087 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001mwu.3 RAG1_uc001mwt.2... Hybrid_Cap... view
RALGDS p.V780M 9 135977411 135977411 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc011mcw.1 RALGDS_uc004cct... Hybrid_Cap... view
RANBP9 p.M647fs 6 13632610 13632610 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del T - uc003nbb.2 RANBP9_uc003nba... Hybrid_Cap...
RAPGEF2 4 160189201 160189201 SNGM_ENDOMETRIU... 37 5'UTR Del T - uc003iqg.3 Hybrid_Cap...
RB1 13 49054323 49054323 SNGM_ENDOMETRIU... 37 3'UTR Del T - uc001vcb.2 Hybrid_Cap...
RBL2 p.L286I 16 53487453 53487453 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C A uc002ehi.3 RBL2_uc010vgv.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RELA p.P200H 11 65426287 65426287 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G T uc010ron.1 RELA_uc001ofg.2... Hybrid_Cap... view
RELA p.P193S 11 65427152 65427152 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc010ron.1 RELA_uc001ofg.2... Hybrid_Cap... view
REM1 p.R267H 20 30072136 30072136 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc002wwa.2 NCRNA00028_uc01... Hybrid_Cap... view
RGL2 p.R682C 6 33260285 33260285 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003odv.2 RGL2_uc003odu.2... Hybrid_Cap... view
RIF1 p.Q1874H 2 152321656 152321656 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G T uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap... view
RIMS2 p.E296G 8 104898380 104898380 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP A G uc003yls.2 RIMS2_uc003ylp.... Hybrid_Cap... view
RIPK2 8 90770228 90770228 SNGM_ENDOMETRIU... 37 5'UTR SNP G A uc003yee.2 RIPK2_uc003yef.... Hybrid_Cap... view
RNASEL 1 182544480 182544480 SNGM_ENDOMETRIU... 37 3'UTR SNP A G uc001gpj.1 RNASEL_uc009wxz... Hybrid_Cap... view
ROBO2 3 77666937 77666937 SNGM_ENDOMETRIU... 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
ROR1 p.G318C 1 64608111 64608111 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G T uc001dbj.2 ROR1_uc001dbi.3... Hybrid_Cap... view
RPL22 p.K15fs 1 6257785 6257785 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del T - uc001amd.2 RPL22_uc001ame.... Hybrid_Cap...
RPTOR p.A523V 17 78854273 78854273 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002jyt.1 RPTOR_uc010wug.... Hybrid_Cap... view
RPTOR 17 78938157 78938157 SNGM_ENDOMETRIU... 37 3'UTR SNP C T uc002jyt.1 RPTOR_uc010wug.... Hybrid_Cap... view
RRM2 2 10269545 10269545 SNGM_ENDOMETRIU... 37 3'UTR Del T - rs79162203 uc002rah.2 Hybrid_Cap...
RUNX2 p.S28fs 6 45390354 45390355 SNGM_ENDOMETRIU... 37 Frame_Shift_Ins Ins - C uc011dvx.1 RUNX2_uc011dvy.... Hybrid_Cap...
RUNX2 p.C123Y 6 45390639 45390639 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc011dvx.1 RUNX2_uc011dvy.... Hybrid_Cap... view
SBK2 p.R40S 19 56047544 56047544 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G T uc010ygc.1 Hybrid_Cap... view
SCYL2 p.P904T 12 100732870 100732870 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C A uc001thn.2 Hybrid_Cap... view
SEPT6 p.*430fs X 118750698 118750698 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del A - uc004ert.2 SEPT6_uc010nqk.... Hybrid_Cap...
SETDB1 p.A1127V 1 150935538 150935538 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc001evu.2 SETDB1_uc001evv... Hybrid_Cap... view
SGK223 p.P1285L 8 8176031 8176031 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003wsh.3 Hybrid_Cap... view
SH3GL1 p.R174Q 19 4363820 4363820 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc002maj.2 SH3GL1_uc002mak... Hybrid_Cap... view
SHC1 p.G371R 1 154938866 154938866 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc001ffw.2 SHC1_uc001ffu.2... Hybrid_Cap... view
SIK1 p.R235W 21 44840935 44840935 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc002zdf.2 Hybrid_Cap... view
SIK2 p.R524G 11 111591276 111591276 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP A G uc001plt.2 Hybrid_Cap... view
SIRT1 p.R199Q 10 69648688 69648688 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001jnd.2 SIRT1_uc010qis.... Hybrid_Cap... view
SMARCA4 p.P1487Q 19 11152176 11152176 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C A uc010dxo.2 SMARCA4_uc002mq... Hybrid_Cap... view
SMG1 p.P3081H 16 18840969 18840969 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G T uc002dfm.2 SMG1_uc010bwb.2... Hybrid_Cap... view
SPEN p.E1292fs 1 16256610 16256610 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del A - uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap...
SRPK2 p.H172Y 7 104807824 104807824 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003vcv.2 SRPK2_uc003vct.... Hybrid_Cap... view
STAR p.R62W 8 38005840 38005840 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003xkv.1 STAR_uc010lwc.1... Hybrid_Cap... view
STIL p.A746T 1 47737895 47737895 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc001crd.1 TAL1_uc001crb.1... Hybrid_Cap... view
STK25 2 242435659 242435662 SNGM_ENDOMETRIU... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK25 2 242436045 242436045 SNGM_ENDOMETRIU... 37 Intron SNP G T uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap... view
STK31 7 23872024 23872025 SNGM_ENDOMETRIU... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK36 2 219566738 219566738 SNGM_ENDOMETRIU... 37 3'UTR SNP G A uc002viu.2 STK36_uc002viv.... Hybrid_Cap... view
TAF15 p.G207S 17 34160924 34160924 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc002hkd.2 TAF15_uc010ctw.... Hybrid_Cap... view
TCEA1 8 54880636 54880636 SNGM_ENDOMETRIU... 37 3'UTR SNP G A uc003xru.2 TCEA1_uc003xrv.... Hybrid_Cap... view
TEC 4 48139307 48139310 SNGM_ENDOMETRIU... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TESK2 p.R95W 1 45887458 45887458 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001cns.1 TESK2_uc009vxr.... Hybrid_Cap... view
TEX14 p.D539N 17 56679248 56679248 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc010dcz.1 TEX14_uc002iwr.... Hybrid_Cap... view
TFDP1 13 114294635 114294635 SNGM_ENDOMETRIU... 37 3'UTR Del T - uc001vtw.2 TFDP1_uc010tkd.... Hybrid_Cap...
TFR2 p.H739R 7 100218670 100218670 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP T C uc003uvv.1 TFR2_uc010lhc.1... Hybrid_Cap... view
TG p.S2036N 8 133984894 133984894 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003ytw.2 TG_uc010mdw.2_M... Hybrid_Cap... view
TGFBR1 p.Y99* 9 101891336 101891336 SNGM_ENDOMETRIU... 37 Nonsense_Mutation SNP T A uc004azc.2 TGFBR1_uc004azd... Hybrid_Cap... view
TGFBR2 p.E150fs 3 30691872 30691872 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del A - uc003cen.2 TGFBR2_uc003ceo... Hybrid_Cap...
THBS3 p.G915fs 1 155165845 155165845 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del C - uc001fix.2 RAG1AP1_uc010pe... Hybrid_Cap...
TLR4 p.N497K 9 120475897 120475897 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C A uc004bjz.2 TLR4_uc004bka.2... Hybrid_Cap... view
TMEM200A p.R414W 6 130762807 130762807 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc003qca.2 TMEM200A_uc010k... Hybrid_Cap... view
TMEM74 p.A47V 8 109797188 109797188 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc003ymy.1 TMEM74_uc003ymx... Hybrid_Cap... view
TNK2 3 195590961 195590961 SNGM_ENDOMETRIU... 37 3'UTR SNP C T uc003fvt.1 TNK2_uc003fvq.1... Hybrid_Cap... view
TNKS2 p.T1079I 10 93619360 93619360 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc001khp.2 Hybrid_Cap... view
TNN p.A1080T 1 175097790 175097790 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP G A uc001gkl.1 Hybrid_Cap... view
TNRC6B p.P844fs 22 40662764 40662764 SNGM_ENDOMETRIU... 37 Frame_Shift_Del Del C - uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TNRC6B 22 40717342 40717342 SNGM_ENDOMETRIU... 37 Intron SNP G T uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap... view
TOP2B p.R651H 3 25668727 25668727 SNGM_ENDOMETRIU... 37 Missense_Mutation SNP C T uc003cdj.2 TOP2B_uc011awn.... Hybrid_Cap... view