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TCGA tumor abbreviations
  • ACCAdrenocortical carcinoma
  • BLCABladder Urothelial Carcinoma
  • BRCABreast invasive carcinoma
  • CESCCervical squamous cell carcinoma and endocervical adenocarcinoma
  • CHOLCholangio carcinoma
  • COADColon adenocarcinoma
  • DLBCLymphoid Neoplasm Diffuse Large B-cell Lymphoma
  • ESCAEsophageal carcinoma
  • GBMGlioblastoma multiforme
  • HNSCHead and Neck squamous cell carcinoma
  • KICHKidney Chromophobe
  • KIRCKidney renal clear cell carcinoma
  • KIRPKidney renal papillary cell carcinoma
  • LAMLAcute Myeloid Leukemia
  • LGGBrain Lower Grade Glioma
  • LIHCLiver hepatocellular carcinoma
  • LUADLung adenocarcinoma
  • LUSCLung squamous cell carcinoma
  • MESOMesothelioma
  • OVOvarian serous cystadenocarcinoma
  • PAADPancreatic adenocarcinoma
  • PCPGPheochromocytoma and Paraganglioma
  • PRADProstate adenocarcinoma
  • READRectum adenocarcinoma
  • SARCSarcoma
  • SKCMSkin Cutaneous Melanoma
  • STADStomach adenocarcinoma
  • TGCTThyroid carcinoma
  • THCAThyroid carcinoma
  • THYMThymoma
  • UCECUterine Corpus Endometrial Carcinoma
  • UCSUterine Carcinosarcoma
  • UVMUveal Melanoma

Note: Click here to get the extension of tumor abbreviations.


  • Cancer Related Information
  • Basic Information

Cancer associated literatures
PIDTitleArticle TimeAuthorDoi
16474133Inhibition of the ATM/p53 signal transduction pathway by Kaposi's sarcoma-associated herpesvirus interferon regulatory factor 1.J Virol2006 MarShin YC-
17393301The spectrum of ATM missense variants and their contribution to contralateral breast cancer.Breast Cancer Res Treat2008 JanBroeks A-
25935535Low ATM protein expression in malignant tumor as well as cancer-associated stroma are independent prognostic factors in a retrospective study of early-stage hormone-negative breast cancer.Breast Cancer Res2015 May 3Feng Xdoi: 10.1186/s13058-015-0575-2.
21102523Transforming growth factor-β regulates the sphere-initiating stem cell-like feature in breast cancer through miRNA-181 and ATM.Oncogene2011 Mar 24Wang Ydoi: 10.1038/onc.2010.531
19029835PKCalpha activation downregulates ATM and radio-sensitizes androgen-sensitive human prostate cancer cells in vitro and in vivo.Cancer Biol Ther2009 JanTruman JP-
16997395ATM activation is accompanied with earlier stages of prostate tumorigenesis.Biochim Biophys Acta2006 OctFan C-
27535224The Breast Cancer Tumor Suppressor TRIM29 Is Expressed via ATM-dependent Signaling in Response to Hypoxia.J Biol Chem2016 Oct 7D??kel M-
2761351853BP1 depletion causes PARP inhibitor resistance in ATM-deficient breast cancer cells.BMC Cancer2016 Sep 9Hong Rdoi: 10.1186/s12885-016-2754-7.
27556690Ataxia-telangiectasia mutated activation mediates tumor necrosis factor-alpha induced MMP-13 up-regulation and metastasis in lung cancer cells.Oncotarget2016 Sep 20Yan HQdoi: 10.18632/oncotarget.11386.
24324828Mutation at intronic repeats of the ataxia-telangiectasia mutated (ATM) gene and ATM protein loss in primary gastric cancer with microsatellite instability.PLoS One2013 Dec 6Kim HSdoi: 10.1371/journal.pone.0082769
16329039ATM gene expression is associated with differentiation and angiogenesis in infiltrating breast carcinomas.Histol Histopathol2006 FebCuatrecasas Mdoi: 10.14670/HH-21.149.
21156285Loss of ATM/Chk2/p53 pathway components accelerates tumor development and contributes to radiation resistance in gliomas.Cancer Cell2010 Dec 14Squatrito Mdoi: 10.1016/j.ccr.2010.10.034.
12032824Aberrant methylation of the ATM promoter correlates with increased radiosensitivity in a human colorectal tumor cell line.Oncogene2002 May 30Kim WJ-
22923499Activation of the ATM-Snail pathway promotes breast cancer metastasis.J Mol Cell Biol2012 OctSun Mdoi: 10.1093/jmcb/mjs048
24726882Induction of ATM/ATR pathway combined with Vγ2V??2 T cells enhances cytotoxicity of ovarian cancer cells.Biochim Biophys Acta2014 JulLu Jdoi: 10.1016/j.bbadis.2014.04.003
20023412DNA damage signaling is activated during cancer progression in human colorectal carcinoma.Cancer Biol Ther2010 FebOka K-
26300260MacroH2A1 and ATM Play Opposing Roles in Paracrine Senescence and the Senescence-Associated Secretory Phenotype.Mol Cell2015 Sep 3Chen Hdoi: 10.1016/j.molcel.2015.07.011
22094875ATM-mediated DNA damage signals mediate immune escape through integrin-αvβ3-dependent mechanisms.Cancer Res2012 Jan 1Jinushi Mdoi: 10.1158/0008-5472.CAN-11-2028
26053094Ataxia-telangiectasia mutated (ATM) silencing promotes neuroblastoma progression through a MYCN independent mechanism.Oncotarget2015 Jul 30Mandriota SJ-
11830610Dominant negative ATM mutations in breast cancer families.J Natl Cancer Inst2002 Feb 6Chenevix-Trench G-
26220524Loss of ATM accelerates pancreatic cancer formation and epithelial-mesenchymal transition.Nat Commun2015 Jul 29Russell Rdoi: 10.1038/ncomms8677.
18565893Risk of cancer by ATM missense mutations in the general population.J Clin Oncol2008 Jun 20Dombernowsky SLdoi: 10.1200/JCO.2007.14.6613.
12409306Identification of a novel protein kinase mediating Akt survival signaling to the ATM protein.J Biol Chem2003 Jan 3Suzuki A-
23878245Reactive nitrogen species regulate autophagy through ATM-AMPK-TSC2-mediated suppression of mTORC1.Proc Natl Acad Sci U S A2013 Aug 6Tripathi DNdoi: 10.1073/pnas.1307736110
18343821Determination of three-dimensional structure and residues of the novel tumor suppressor AIMP3/p18 required for the interaction with ATM.J Biol Chem2008 May 16Kim KJdoi: 10.1074/jbc.M800859200
22951905Phospho-??Np63α/SREBF1 protein interactions: bridging cell metabolism and cisplatin chemoresistance.Cell Cycle2012 Oct 15Huang Ydoi: 10.4161/cc.22022
16432227ATM promotes apoptosis and suppresses tumorigenesis in response to Myc.Proc Natl Acad Sci U S A2006 Jan 31Pusapati RV-
26662178Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.Clin Genet2016 Augvan Os NJdoi: 10.1111/cge.12710
27959407Low-dose irradiation promotes proliferation of the human breast cancer MDA-MB-231 cells through accumulation of mutant P53.Int J Oncol2017 JanLi SJdoi: 10.3892/ijo.2016.3795
28691344Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study.Genes Chromosomes Cancer2017 NovBubien Vdoi: 10.1002/gcc.22482
29115439Low-dose irradiation inhibits proliferation of the p53null type human prostate cancer cells through the ATM/p21 pathway.Int J Mol Med2018 JanLi SJdoi: 10.3892/ijmm.2017.3237
30562756ATM-Mediated Phosphorylation of Cortactin Involved in Actin Polymerization Promotes Breast Cancer Cells Migration and Invasion.Cell Physiol Biochem2018Lang Ldoi: 10.1159/000496048
16914028ATM variants and cancer risk in breast cancer patients from Southern Finland.BMC Cancer2006 Aug 16Tommiska J-
27466510DNA Repair Gene Expression Levels as Indicators of Breast Cancer in the Breast Cancer Family Registry.Anticancer Res2016 AugKappil MA-
22276117The association between ATM IVS 22-77 T>C and cancer risk: a meta-analysis.PLoS One2012Zhao Ldoi: 10.1371/journal.pone.0029479
26506520Prevalence of deleterious ATM germline mutations in gastric cancer patients.Oncotarget2015 Dec 1Huang DSdoi: 10.18632/oncotarget.5944.
21187516Association between ataxia telangiectasia mutated gene polymorphisms and breast cancer in Taiwanese females.Anticancer Res2010 DecWang HC-
12612651ATM and related protein kinases: safeguarding genome integrity.Nat Rev Cancer2003 MarShiloh Y-
27542403MiR-203 inhibits tumor invasion and metastasis in gastric cancer by ATM.Acta Biochim Biophys Sin (Shanghai)2016 AugZhou Pdoi: 10.1093/abbs/gmw063
17428325Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.Breast Cancer Res2007Baynes C-
19153073Gene-body hypermethylation of ATM in peripheral blood DNA of bilateral breast cancer patients.Hum Mol Genet2009 Apr 1Flanagan JMdoi: 10.1093/hmg/ddp033
21108427Association between DNA repair gene ATM polymorphisms and oral cancer susceptibility.Laryngoscope2010 DecBau DTdoi: 10.1002/lary.21009.
12810666Contributions of ATM mutations to familial breast and ovarian cancer.Cancer Res2003 Jun 15Thorstenson YR-
22323184The role of ATM and 53BP1 as predictive markers in cervical cancer.Int J Cancer2012 Nov 1Roossink Fdoi: 10.1002/ijc.27488
23649938Ataxia-telangiectasia-mutated protein expression with microsatellite instability in gastric cancer as prognostic marker.Int J Cancer2014 Jan 1Kim JWdoi: 10.1002/ijc.28245
24023351Effects of ataxia telangiectasia mutated (ATM) genotypes and smoking habits on lung cancer risk in Taiwan.Anticancer Res2013 SepHsia TC-
27227554Effect of ATM-111 (G>A) Polymorphism on Cancer Risk: A Meta-Analysis.Genet Test Mol Biomarkers2016 JulHuang Sdoi: 10.1089/gtmb.2015.0320
28423511ATM kinase sustains breast cancer stem-like cells by promoting ATG4C expression and autophagy.Oncotarget2017 Mar 28Antonelli Mdoi: 10.18632/oncotarget.15537.
27599564Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.J Exp Clin Cancer Res2016 Sep 6Prodosmo Adoi: 10.1186/s13046-016-0410-3.
28453388Susceptibility of ATM-deficient pancreatic cancer cells to radiation.Cell Cycle2017 May 19Ayars Mdoi: 10.1080/15384101.2017.1312236
30128886GLTSCR1, ATM, PPP1R13L and CD3EAP Genetic Variants and Lung Cancer Risk in a Chinese Population.Curr Med Sci2018 AugYin JYdoi: 10.1007/s11596-018-1938-6
25541996Effect of single nucleotide polymorphism Rs189037 in ATM gene on risk of lung cancer in Chinese: a case-control study.PLoS One2014 Dec 26Liu Jdoi: 10.1371/journal.pone.0115845
25862169Oxidative stress shapes breast cancer phenotype through chronic activation of ATM-dependent signaling.Breast Cancer Res Treat2015 MayAlpay Mdoi: 10.1007/s10549-015-3368-5
17333338Screening for ATM sequence alterations in African-American women diagnosed with breast cancer.Breast Cancer Res Treat2008 JanHirsch AE-
20354815Genetic polymorphisms in ATM, ERCC1, APE1 and iASPP genes and lung cancer risk in a population of southeast China.Med Oncol2011 SepDeng Qdoi: 10.1007/s12032-010-9507-2
23154512Loss of expression of the double strand break repair protein ATM is associated with worse prognosis in colorectal cancer and loss of Ku70 expression is associated with CIN.Oncotarget2012 NovBeggs AD-
23925578Association of the ATM gene polymorphisms with papillary thyroid cancer.Endocrine2014 AprGu Ydoi: 10.1007/s12020-013-0020-1
19071090ATM is required for rapid degradation of cyclin D1 in response to gamma-irradiation.Biochem Biophys Res Commun2009 Jan 23Choo DWdoi: 10.1016/j.bbrc.2008.11.132
15846060ATM activation in normal human tissues and testicular cancer.Cell Cycle2005 JunBartkova J-
19404735ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.Breast Cancer Res Treat2010 JanPaglia LLdoi: 10.1007/s10549-009-0396-z
25846551Profiling cancer gene mutations in longitudinal epithelial ovarian cancer biopsies by targeted next-generation sequencing: a retrospective study.Ann Oncol2015 JulBeltrame Ldoi: 10.1093/annonc/mdv164
19781682Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.Am J Hum Genet2009 OctTavtigian SVdoi: 10.1016/j.ajhg.2009.08.018
26778106The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers.Cancer Genet2016 MarLaitman Ydoi: 10.1016/j.cancergen.2015.12.006
11805335Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.Proc Natl Acad Sci U S A2002 Jan 22Scott SP-
23776433Ataxia-telangiectasia group D complementing gene (ATDC) promotes lung cancer cell proliferation by activating NF-??B pathway.PLoS One2013 Jun 12Tang ZPdoi: 10.1371/journal.pone.0063676
18433505Association of common ATM variants with familial breast cancer in a South American population.BMC Cancer2008 Apr 23Gonz??lez-Hormaz??bal Pdoi: 10.1186/1471-2407-8-117.
22420423Low expression levels of ATM may substitute for CHEK2 /TP53 mutations predicting resistance towards anthracycline and mitomycin chemotherapy in breast cancer.Breast Cancer Res2012 Mar 15Knappskog S-
23686257Genistein induces G2/M cell cycle arrest and apoptosis via ATM/p53-dependent pathway in human colon cancer cells.Int J Oncol2013 JulZhang Zdoi: 10.3892/ijo.2013.1946
21127011Lower ataxia telangiectasia mutated (ATM) mRNA expression is correlated with poor outcome of laryngeal and pharyngeal cancer patients.Ann Oncol2011 MayLee KWdoi: 10.1093/annonc/mdq569
22200742Genetic polymorphisms and cervical cancer development: ATM G5557A and p53bp1 C1236G.Oncol Rep2012 AprOliveira Sdoi: 10.3892/or.2011.1609
15837784Down-regulation of ATM protein sensitizes human prostate cancer cells to radiation-induced apoptosis.J Biol Chem2005 Jun 17Truman JP-
21445571Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.Breast Cancer Res Treat2011 JulGraa Bdoi: 10.1007/s10549-011-1462-x
26098866Loss-of-function variants in ATM confer risk of gastric cancer.Nat Genet2015 AugHelgason Hdoi: 10.1038/ng.3342
21034966The ATM-Chk2 and ATR-Chk1 pathways in DNA damage signaling and cancer.Adv Cancer Res2010Smith Jdoi: 10.1016/B978-0-12-380888-2.00003-0.
20513533High incidence of mutations in BRCA1 and BRCA2 genes in ovarian cancer.Bull Exp Biol Med2007 JulSmirnova TY-
23851489Functional interplay between the DNA-damage-response kinase ATM and ARF tumour suppressor protein in human cancer.Nat Cell Biol2013 AugVelimezi Gdoi: 10.1038/ncb2795
24480460Aurora-A controls cancer cell radio- and chemoresistance via ATM/Chk2-mediated DNA repair networks.Biochim Biophys Acta2014 MaySun Hdoi: 10.1016/j.bbamcr.2014.01.019
16832357ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.Nat Genet2006 AugRenwick A-
15880680Two ATM variants and breast cancer risk.Hum Mutat2005 JunThompson D-
21935375The phenotypic radiation resistance of CD44+/CD24(-or low) breast cancer cells is mediated through the enhanced activation of ATM signaling.PLoS One2011Yin Hdoi: 10.1371/journal.pone.0024080
24285016ATM down-regulation is associated with poor prognosis in sporadic breast carcinomas.Ann Oncol2014 JanBueno RCdoi: 10.1093/annonc/mdt421
17164260Effect of ATM, CHEK2 and ERBB2 TAGSNPs and haplotypes on endometrial cancer risk.Hum Mol Genet2007 Jan 15Einarsd??ttir K-
26625310Infiltrating mast cells increase prostate cancer chemotherapy and radiotherapy resistances via modulation of p38/p53/p21 and ATM signals.Oncotarget2016 Jan 12Xie Hdoi: 10.18632/oncotarget.6372.
16636671Identification of an ataxia telangiectasia-mutated protein mediated surveillance system to regulate Bcl-2 overexpression.Oncogene2006 Sep 14Zhang J-
16998505ATM and breast cancer susceptibility.Oncogene2006 Sep 25Ahmed M-
23328638Concordance of ATM (ataxia telangiectasia mutated) immunohistochemistry between biopsy or metastatic tumor samples and primary tumors in gastric cancer patients.Pathobiology2013Kim HSdoi: 10.1159/000346034
14983937ATM protein overexpression in prostate tumors: possible role in telomere maintenance.Am J Clin Pathol2004 FebAng??le S-
26030852ATM regulation of IL-8 links oxidative stress to cancer cell migration and invasion.Elife2015 Jun 1Chen WTdoi: 10.7554/eLife.07270.
24145123miR-203 induces oxaliplatin resistance in colorectal cancer cells by negatively regulating ATM kinase.Mol Oncol2014 FebZhou Ydoi: 10.1016/j.molonc.2013.09.004
24568192cAMP signaling inhibits radiation-induced ATM phosphorylation leading to the augmentation of apoptosis in human lung cancer cells.Mol Cancer2014 Feb 24Cho EAdoi: 10.1186/1476-4598-13-36.
20709753Selenium compounds activate ATM-dependent DNA damage response via the mismatch repair protein hMLH1 in colorectal cancer cells.J Biol Chem2010 Oct 22Qi Ydoi: 10.1074/jbc.M110.137406
18642075Promoter methylation patterns of ATM, ATR, BRCA1, BRCA2 and p53 as putative cancer risk modifiers in Jewish BRCA1/BRCA2 mutation carriers.Breast Cancer Res Treat2009 JulKontorovich Tdoi: 10.1007/s10549-008-0121-3
26517239The orally active and bioavailable ATR kinase inhibitor AZD6738 potentiates the anti-tumor effects of cisplatin to resolve ATM-deficient non-small cell lung cancer in vivo.Oncotarget2015 Dec 29Vendetti FPdoi: 10.18632/oncotarget.6247.
19723050Mechanism of beta-carotene-induced apoptosis of gastric cancer cells: involvement of ataxia-telangiectasia-mutated.Ann N Y Acad Sci2009 AugJang SHdoi: 10.1111/j.1749-6632.2009.04711.x.
26851027ER-Dependent Ca++-mediated Cytosolic ROS as an Effector for Induction of Mitochondrial Apoptotic and ATM-JNK Signal Pathways in Gallic Acid-treated Human Oral Cancer Cells.Anticancer Res2016 FebLu YC-
21058196Antioxidant vitamins intake, ataxia telangiectasia mutated (ATM) genetic polymorphisms, and breast cancer risk.Nutr Cancer2010Lee SAdoi: 10.1080/01635581.2010.492088.
14553952ATM gene mutations are not involved in medulloblastoma in children.Cancer Genet Cytogenet2003 Oct 15Liberzon E-
18557994Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?Breast Cancer Res2008Byrnes GBdoi: 10.1186/bcr2099
24469230ATDC/TRIM29 phosphorylation by ATM/MAPKAP kinase 2 mediates radioresistance in pancreatic cancer cells.Cancer Res2014 Mar 15Wang Ldoi: 10.1158/0008-5472.CAN-13-2289
22203481Association between ATM polymorphisms and cancer risk: a meta-analysis.Mol Biol Rep2012 MayShen Ldoi: 10.1007/s11033-011-1381-2
18497957Contribution of mutations in ATM to breast cancer development in the Czech population.Oncol Rep2008 JunSoukupova J-
15928302Cancer risks and mortality in heterozygous ATM mutation carriers.J Natl Cancer Inst2005 Jun 1Thompson D-
25014427ATM polymorphisms IVS24-9delT, IVS38-8T>C, and 5557G>A in Mexican women with familial and/or early-onset breast cancer.Salud Publica Mex2014 AprCalder??n-Z??iga Fdel C-
20665102Association between polymorphisms of the ataxia telangiectasia mutated gene and breast cancer risk: evidence from the current studies.Breast Cancer Res Treat2011 FebLu PHdoi: 10.1007/s10549-010-1081-y
11897822ATM mutations in Finnish breast cancer patients.J Med Genet2002 MarAllinen M-
18701470Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.Cancer Res2008 Aug 15Concannon Pdoi: 10.1158/0008-5472.CAN-08-0134.
23681803Ataxia-telangiectasia group D complementing gene (ATDC) upregulates matrix metalloproteinase 9 (MMP-9) to promote lung cancer cell invasion by activating ERK and JNK pathways.Tumour Biol2013 OctTang ZPdoi: 10.1007/s13277-013-0843-7
22072393Gene-gene interactions in breast cancer susceptibility.Hum Mol Genet2012 Feb 15Turnbull Cdoi: 10.1093/hmg/ddr525
19401701Activation of ATM/Chk1 by curcumin causes cell cycle arrest and apoptosis in human pancreatic cancer cells.Br J Cancer2009 May 5Sahu RPdoi: 10.1038/sj.bjc.6605039.
17431766Two-stage case-control study of common ATM gene variants in relation to breast cancer risk.Breast Cancer Res Treat2007 NovYe C-
25970706Oxidized ATM promotes abnormal proliferation of breast CAFs through maintaining intracellular redox homeostasis and activating the PI3K-AKT, MEK-ERK, and Wnt-β-catenin signaling pathways.Cell Cycle2015Tang Sdoi: 10.1080/15384101.2015.1041685.
20338046DNA methylation profiling in doxorubicin treated primary locally advanced breast tumours identifies novel genes associated with survival and treatment response.Mol Cancer2010 Mar 25Dejeux Edoi: 10.1186/1476-4598-9-68.
19302790ATM blocks tunicamycin-induced endoplasmic reticulum stress.FEBS Lett2009 Mar 4He Ldoi: 10.1016/j.febslet.2009.02.002
25425972Clinicopathological significance of ATM-Chk2 expression in sporadic breast cancers: a comprehensive analysis in large cohorts.Neoplasia2014 Nov 20Abdel-Fatah TMdoi: 10.1016/j.neo.2014.09.009
12362033Constitutional alterations of the ATM gene in early onset sporadic breast cancer.J Med Genet2002 OctMaillet P-
20004998ATM polymorphisms and risk of lung cancer among never smokers.Lung Cancer2010 AugLo YLdoi: 10.1016/j.lungcan.2009.11.007
17351744ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences?Breast Cancer Res Treat2008 JanTapia T-
21787400Rare variants in the ATM gene and risk of breast cancer.Breast Cancer Res2011 Jul 25Goldgar DEdoi: 10.1186/bcr2919.
19028473Kaempferol induces apoptosis in human HCT116 colon cancer cells via the Ataxia-Telangiectasia Mutated-p53 pathway with the involvement of p53 Upregulated Modulator of Apoptosis.Chem Biol Interact2009 Jan 27Li Wdoi: 10.1016/j.cbi.2008.10.048
16533773Expression of DNA double-strand break repair proteins ATM and BRCA1 predicts survival in colorectal cancer.Clin Cancer Res2006 Mar 1Grabsch H-
26825989Enhanced gefitinib-induced repression of the epidermal growth factor receptor pathway by ataxia telangiectasia-mutated kinase inhibition in non-small-cell lung cancer cells.Cancer Sci2016 AprMisumi Kdoi: 10.1111/cas.12899
22374981Intragenic ATM methylation in peripheral blood DNA as a biomarker of breast cancer risk.Cancer Res2012 May 1Brennan Kdoi: 10.1158/0008-5472.CAN-11-3157
21603857Association between ATM 5557G>A polymorphism and breast cancer risk: a meta-analysis.Mol Biol Rep2012 FebMao Cdoi: 10.1007/s11033-011-0839-6
17166884Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer.Carcinogenesis2007 MayPylks K-
15390180Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families.Genes Chromosomes Cancer2005 JanCavaciuti E-
23857602Estrogen receptor α regulates ATM Expression through miRNAs in breast cancer.Clin Cancer Res2013 Sep 15Guo Xdoi: 10.1158/1078-0432.CCR-12-3700
18164969Detection of ATM gene mutations in young lung cancer patients: a population-based control study.Arch Med Res2008 FebSchneider Jdoi: 10.1016/j.arcmed.2007.08.004
23561644Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer.Hum Genomics2013 Apr 5Grant RCdoi: 10.1186/1479-7364-7-11.
12072552Re: Dominant negative ATM mutations in breast cancer families.J Natl Cancer Inst2002 Jun 19Lei H-
17001622Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling.Genes Chromosomes Cancer2006 DecWaddell N-
20799949The association between ATM D1853N polymorphism and breast cancer susceptibility: a meta-analysis.J Exp Clin Cancer Res2010 Aug 27Gao LBdoi: 10.1186/1756-9966-29-117.
26505164Elevated Expression of Hepatoma Up-Regulated Protein Inhibits γ-Irradiation-Induced Apoptosis of Prostate Cancer Cells.J Cell Biochem2016 JunHassan Mdoi: 10.1002/jcb.25419
25849217Common variants at 9q22.33, 14q13.3, and ATM loci, and risk of differentiated thyroid cancer in the French Polynesian population.PLoS One2015 Apr 7Maillard Sdoi: 10.1371/journal.pone.0123700
11830600Consortium piecing together role of ATM gene in breast cancer.J Natl Cancer Inst2002 Feb 6Finkel E-
20177704From the set-up of a screening program of breast cancer patients to the identification of the first BRCA mutation in the DR Congo.BMC Public Health2014 Jul 28Luyeye Mvila Gdoi: 10.1186/1471-2458-14-759.
25069040The role of oxidized ATM in the regulation of oxidative stress-induced energy metabolism reprogramming of CAFs.Cancer Lett2014 Oct 28Tang Sdoi: 10.1016/j.canlet.2014.07.028
25881002ATM kinase sustains HER2 tumorigenicity in breast cancer.Nat Commun2015 Apr 16Stagni Vdoi: 10.1038/ncomms7886.
18634022Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.Hum Mutat2009 JanMitui Mdoi: 10.1002/humu.20805.
17510082Aspirin blocks proliferation in colon cells by inducing a G1 arrest and apoptosis through activation of the checkpoint kinase ATM.Carcinogenesis2007 OctLuciani MG-
19661334A common 9 bp deletion in the ataxia-telangiectasia-mutated gene is not associated with oral cancer.Anticancer Res2009 AugSpyridonidou S-
24553124ATM controls proper mitotic spindle structure.Cell Cycle2014Palazzo Ldoi: 10.4161/cc.27945
20544271Lack of association between ATM C.1066-6T > G mutation and breast cancer risk: a meta-analysis of 8,831 cases and 4,957 controls.Breast Cancer Res Treat2011 JanDing Hdoi: 10.1007/s10549-010-0977-x
16652348The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer.Hum Mutat2006 JunStredrick DL-
11996792Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls.Cancer Genet Cytogenet2002 Apr 1Sommer SS-
25247188Multifunctional role of ATM/Tel1 kinase in genome stability: from the DNA damage response to telomere maintenance.Biomed Res Int2014Di Domenico EGdoi: 10.1155/2014/787404
18807267A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer.Breast Cancer Res Treat2009 NovBogdanova Ndoi: 10.1007/s10549-008-0189-9
24486587Having pancreatic cancer with tumoral loss of ATM and normal TP53 protein expression is associated with a poorer prognosis.Clin Cancer Res2014 Apr 1Kim Hdoi: 10.1158/1078-0432.CCR-13-1239
24252502ATM-depletion in breast cancer cells confers sensitivity to PARP inhibition.J Exp Clin Cancer Res2013 Nov 19Gilardini Montani MSdoi: 10.1186/1756-9966-32-95.
18264724Single nucleotide polymorphism D1853N of the ATM gene may alter the risk for breast cancer.J Cancer Res Clin Oncol2008 AugSchrauder Mdoi: 10.1007/s00432-008-0355-9
17517479Possession of ATM sequence variants as predictor for late normal tissue responses in breast cancer patients treated with radiotherapy.Int J Radiat Oncol Biol Phys2007 Nov 1Ho AY-
27918549A hypoxia-responsive TRAF6-ATM-H2AX signalling axis promotes HIF1α activation, tumorigenesis andmetastasis.Nat Cell Biol2017 JanRezaeian AHdoi: 10.1038/ncb3445
28259977miR-30a radiosensitizes non-small cell lung cancer by targeting ATF1 that is involved in the phosphorylation of ATM.Oncol Rep2017 AprGuo Ydoi: 10.3892/or.2017.5448
27112364Penetrance of ATM Gene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk.Genet Epidemiol2016 JulMarabelli Mdoi: 10.1002/gepi.21971
26965143Constitutive Activation of DNA Damage Checkpoint Signaling Contributes to Mutant p53 Accumulation via Modulation of p53 Ubiquitination.Mol Cancer Res2016 MayFrum RAdoi: 10.1158/1541-7786.MCR-15-0363
27595995PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.J Med Genet2016 DecSouthey MCdoi: 10.1136/jmedgenet-2016-103839
27464310Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model.Genet Med2016 DecLee AJdoi: 10.1038/gim.2016.31
28418444Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.JAMA Oncol2017 Sep 1Couch FJdoi: 10.1001/jamaoncol.2017.0424.
28981872Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families.Carcinogenesis2017 Oct 1Renault ALdoi: 10.1093/carcin/bgx074.
27329169Loss of ataxia-telangiectasia-mutated protein expression correlates with poor prognosis but benefits from anthracycline-containing adjuvant chemotherapy in breast cancer.Breast Cancer Res Treat2016 JulSuh KJdoi: 10.1007/s10549-016-3869-x
27913932Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.Breast Cancer Res Treat2017 FebTavera-Tapia Adoi: 10.1007/s10549-016-4058-7
27317574DNA Repair Deficiency Is Common in Advanced Prostate Cancer: New Therapeutic Opportunities.Oncologist2016 AugDhawan Mdoi: 10.1634/theoncologist.2016-0135
27764772Gene-environment interaction for polymorphisms in ataxia telangiectasia-mutated gene and radiation exposure in carcinogenesis: results from two literature-based meta-analyses of 27120 participants.Oncotarget2016 Nov 22Zhao Ydoi: 10.18632/oncotarget.12724.
27472395IGF-1R inhibition sensitizes breast cancer cells to ATM-related kinase (ATR) inhibitor and cisplatin.Oncotarget2016 Aug 30O'Flanagan CHdoi: 10.18632/oncotarget.10862.
28055970Genomic analysis of exceptional responders to radiotherapy reveals somatic mutations in ATM.Oncotarget2017 Feb 7Ma Jdoi: 10.18632/oncotarget.14400.
28058614Simultaneous ATM/BRCA1/RAD51 expression variations associated with prognostic factors in Iranian sporadic breast cancer patients.Breast Cancer2017 JulHallajian Zdoi: 10.1007/s12282-016-0750-z
28418844Loss of tumour-specific ATM protein expression is an independent prognostic factor in early resected NSCLC.Oncotarget2017 Jun 13Petersen LFdoi: 10.18632/oncotarget.16215.
27602502Phenotypic consequences of somatic mutations in the ataxia-telangiectasia mutated gene in non-small cell lung cancer.Oncotarget2016 Sep 20Weber AMdoi: 10.18632/oncotarget.11845.
28647209Decreased expression of the ATM gene linked to poor prognosis for gastric cancer of different nationalities in Xinjiang.Pathol Res Pract2017 AugHan Mdoi: 10.1016/j.prp.2017.05.012
28756982A meta-analysis of the relationship between ataxia-telangiectasia mutated gene polymorphisms and lung cancer susceptibility.Pathol Res Pract2017 SepXu Ydoi: 10.1016/j.prp.2017.07.003
28825373The role of the ataxia telangiectasia mutated gene in lung cancer: recent advances in research.Ther Adv Respir Dis2017 SepXu Ydoi: 10.1177/1753465817725716
28779002Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.J Med Genet2017 NovDecker Bdoi: 10.1136/jmedgenet-2017-104588
29246212Association between ATM gene polymorphisms, lung cancer susceptibility and radiation-induced pneumonitis: a meta-analysis.BMC Pulm Med2017 Dec 15Yan Zdoi: 10.1186/s12890-017-0555-7.
29562656Evaluation of Promoter Methylation of RASSF1A and ATM in Peripheral Blood of Breast Cancer Patients and Healthy Control Individuals.Int J Mol Sci2018 Mar 19Cao Xdoi: 10.3390/ijms19030900.
27692705Extreme Response to High-dose Testosterone in BRCA2- and ATM-mutated Prostate Cancer.Eur Urol2017 MarTeply BAdoi: 10.1016/j.eururo.2016.09.020
27922010MEK inhibitors block growth of lung tumours with mutations in ataxia-telangiectasia mutated.Nat Commun2016 Dec 6Smida Mdoi: 10.1038/ncomms13701.
29684857MicroRNA-449a functions as a tumor suppressor in pancreatic cancer by the epigenetic regulation of ATDC expression.Biomed Pharmacother2018 JulLi Fdoi: 10.1016/j.biopha.2018.04.101
30106453Conditioned medium mimicking the tumor microenvironment augments chemotherapeutic resistance via ataxiatelangiectasia mutated and nuclear factor??B pathways in gastric cancer cells.Oncol Rep2018 OctZhuang Xdoi: 10.3892/or.2018.6637
29522753ATM inhibition induces synthetic lethality and enhances sensitivity of PTEN-deficient breast cancer cells to cisplatin.Exp Cell Res2018 May 1Li Kdoi: 10.1016/j.yexcr.2018.03.006
30384829Association between ATM rs1801516 polymorphism and cancer susceptibility: a meta-analysis involving 12,879 cases and 18,054 controls.BMC Cancer2018 Nov 1Gu Ydoi: 10.1186/s12885-018-4941-1.
29665859Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.Breast Cancer Res2018 Apr 17Renault ALdoi: 10.1186/s13058-018-0951-9.
28808232Analysis of the ATR-Chk1 and ATM-Chk2 pathways in male breast cancer revealed the prognostic significance of ATR expression.Sci Rep2017 Aug 14Di Benedetto Adoi: 10.1038/s41598-017-07366-7.

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr11108365322Splice_Regionnovel0.23
ACCchr11108252900Frame_Shift_DelnovelS629Tfs*200.37
ACCchr11108267329SilentnovelS875S0.2
ACCchr11108271359Frame_Shift_DelnovelT1011Kfs*70.89
ACCchr11108365417Missense_MutationnovelS3027I0.61
ACCchr11108227691Nonsense_Mutationrs746235533R23*0.92
BLCAchr11108249059Missense_MutationnovelD398H0.1
BLCAchr11108257514Missense_MutationnovelL762V0.3
BLCAchr11108284226Splice_Siters730881364X1249_splice0.77
BLCAchr11108304801Nonsense_Mutationrs376603775R1875*0.44
BLCAchr11108244976Missense_MutationnovelQ284P0.53
BLCAchr11108244076Missense_MutationNAS207C0.37
BLCAchr11108244900Missense_MutationNAL259F0.05
BLCAchr11108271401Frame_Shift_InsNAW1026Lfs*220.13
BLCAchr11108327644Splice_SitenovelX2326_splice0.78
BLCAchr11108299821Missense_MutationnovelD1705N0.19
BLCAchr11108251902Missense_MutationNAG558V0.16
BLCAchr11108330288Missense_MutationnovelR2461P0.19
BLCAchr11108327745Missense_MutationnovelT2359N0.27
BLCAchr11108257571Nonsense_MutationnovelQ781*0.56
BLCAchr11108301760Missense_MutationnovelL1764I0.59
BLCAchr11108365149Missense_MutationnovelR2973T0.32
BLCAchr11108229239Missense_MutationnovelS83A0.1
BLCAchr11108247012Missense_MutationNAD317G0.38
BLCAchr11108325398Nonsense_MutationnovelE2221*0.32
BLCAchr11108335096Missense_MutationNAR2713K0.06
BLCAchr11108281093SilentnovelI1167I0.57
BLCAchr11108282770Missense_MutationnovelH1213N0.42
BLCAchr11108331951Missense_MutationnovelR2568G0.59
BLCAchr11108247048Missense_MutationnovelR329T0.44
BLCAchr11108235756Missense_Mutationrs55633650D140H0.49
BLCAchr11108347356Missense_MutationNAI2888L0.39
BLCAchr11108244873Nonsense_Mutationrs772821016R250*0.57
BLCAchr11108251032Missense_MutationnovelF523V0.51
BLCAchr11108287645Missense_MutationnovelL1347V0.46
BLCAchr11108315829Missense_MutationnovelL2005I0.39
BLCAchr11108289732Missense_MutationNAG1456D0.19
BLCAchr11108249075Nonsense_MutationnovelS403*0.37
BLCAchr11108295056Nonsense_MutationnovelQ1636*0.35
BLCAchr11108347359Missense_Mutationrs587781814D2889H0.42
BLCAchr11108310236Missense_MutationnovelS1947P0.27
BLCAchr11108304693Nonsense_Mutationrs786204751Q1839*0.4
BLCAchr11108316030Missense_MutationNAE2039K0.2
BLCAchr11108251897SilentNAK556K0.45
BLCAchr11108326185In_Frame_DelnovelQ2314_K2317del0.2
BLCAchr11108321339Missense_MutationnovelE2164G0.11
BLCAchr11108365147Missense_MutationnovelQ2972H0.43
BLCAchr11108282880Splice_SitenovelX1249_splice0.27
BLCAchr11108304693Nonsense_Mutationrs786204751Q1839*1
BLCAchr11108335871SilentNAA2726A0.5
BLCAchr11108333885Splice_SitenovelX2643_splice0.71
BLCAchr11108284306Nonsense_MutationnovelQ1276*0.35
BLCAchr11108289761Nonsense_Mutationrs730881369R1466*0.42
BLCAchr11108247072Missense_Mutationrs202160435R337H0.44
BLCAchr11108267234Missense_MutationnovelG844R0.41
BLCAchr11108289667SilentnovelK1434K0.96
BLCAchr11108347344Missense_MutationnovelE2884Q0.29
BLCAchr11108321338Missense_MutationNAE2164Q0.19
BLCAchr11108326064Nonsense_MutationnovelE2272*0.24
BLCAchr11108317454Missense_MutationNAE2094K0.21
BLCAchr11108321338Missense_MutationNAE2164Q0.12
BLCAchr11108304797SilentNAC1873C0.34
BLCAchr11108282755Missense_MutationnovelD1208N0.23
BLCAchr11108316027Missense_MutationnovelH2038N0.83
BLCAchr11108235810Missense_MutationNAE158Q0.75
BLCAchr11108325309Splice_SiteNAX2191_splice0.75
BLCAchr11108247029Missense_Mutationrs587781511I323V0.1
BLCAchr11108365337Missense_MutationNAQ3000H0.23
BLCAchr11108365356Missense_MutationNAE3007K0.25
BLCAchr11108365401Nonsense_MutationNAE3022*0.27
BLCAchr11108267291Missense_MutationnovelD863N0.33
BLCAchr11108271273Missense_Mutationrs587779830R982C0.47
BLCAchr11108335096Missense_MutationNAR2713K0.56
BLCAchr11108329045Missense_MutationnovelD2372N0.23
BRCAchr11108299785Missense_MutationNAD1693N0.44
BRCAchr111083655923'UTRnovel0.09
BRCAchr11108289784Splice_SitenovelX1474_splice0.6
BRCAchr11108310284Missense_MutationnovelD1963Y0.09
BRCAchr11108347318Missense_Mutationrs587782451N2875S0.65
BRCAchr11108295300Intronnovel0.12
BRCAchr11108258996Missense_MutationNAN796T0.29
BRCAchr11108316010Splice_SiteNAX2032_splice0.26
BRCAchr11108365208Nonsense_Mutationrs770641163R2993*0.37
BRCAchr11108253839Missense_MutationNAE642K0.73
BRCAchr11108253898Frame_Shift_InsNAL663Ffs*420.19
BRCAchr11108330271SilentNAL2455L0.15
BRCAchr11108335851Missense_MutationNAD2720N0.14
BRCAchr11108343292Missense_MutationNAL2780R0.54
BRCAchr11108365476Nonsense_Mutationrs121434219R3047*0.41
BRCAchr111083677063'UTRnovel0.24
BRCAchr11108250827SilentnovelY454Y0.05
BRCAchr11108287573Intronnovel0.33
BRCAchr11108365208Nonsense_Mutationrs770641163R2993*0.64
BRCAchr11108312485Missense_MutationNAG1998E0.47
BRCAchr11108333935SilentnovelL2659L0.1
BRCAchr11108330234Missense_Mutationrs587782310R2443Q0.81
BRCAchr11108325542Nonsense_MutationNAQ2269*0.4
BRCAchr11108256236Missense_MutationNAV716L0.85
BRCAchr11108229307SilentNAI105I0.21
BRCAchr11108249001Missense_MutationNAS378R0.28
BRCAchr11108330216Missense_MutationNAY2437C0.16
BRCAchr11108302954SilentNAK1807K0.05
BRCAchr11108293460Missense_MutationnovelP1587T0.08
BRCAchr11108289078Missense_MutationnovelI1404S0.16
BRCAchr11108343351Nonsense_MutationnovelQ2800*0.04
BRCAchr11108256302Missense_MutationNAE738K0.05
BRCAchr11108250761SilentNAL432L0.32
CESCchr11108252908Missense_MutationNAE632K0.21
CESCchr11108259008Missense_MutationNAS800F0.51
CESCchr11108279581Missense_MutationnovelL1125F0.29
CESCchr11108282815Missense_MutationNAE1228K0.18
CESCchr11108292758Frame_Shift_InsnovelP1526Lfs*50.06
CESCchr11108335859SilentnovelL2722L0.1
CESCchr11108289675Missense_MutationNAR1437K0.44
CESCchr11108245000Missense_Mutationrs747727055P292L0.43
CESCchr11108251846SilentnovelV539V0.32
CESCchr11108267314Silentrs587780618N870N0.33
CESCchr111083655293'UTRnovel0.45
CESCchr11108307977Nonsense_MutationNAQ1919*0.21
CESCchr11108294947Frame_Shift_DelnovelS1601Ffs*70.48
CESCchr11108252018Missense_MutationNAP597A0.11
CESCchr11108329187Missense_MutationNAR2419T0.86
CESCchr111083679023'UTRnovel0.45
CHOLchr11108250966Missense_MutationnovelQ501K0.67
CHOLchr11108252902Missense_MutationnovelV630L0.09
COADchr11108247071Missense_Mutationrs138398778R337C0.36
COADchr11108293437Frame_Shift_DelNAI1581Sfs*200.25
COADchr11108326173Missense_MutationnovelA2308V0.13
COADchr11108259022Nonsense_Mutationrs780619951R805*0.65
COADchr11108244873Nonsense_Mutationrs772821016R250*0.27
COADchr11108297373Nonsense_MutationNAE1666*0.26
COADchr11108327726Missense_MutationNAP2353T0.32
COADchr11108247071Missense_Mutationrs138398778R337C0.26
COADchr11108310311Frame_Shift_DelNAR1973Efs*170.26
COADchr11108245022Missense_MutationnovelE299D0.17
COADchr11108325378Missense_MutationnovelD2214G0.13
COADchr11108332766Missense_Mutationrs140263969R2598Q0.21
COADchr11108259073Missense_MutationnovelL822V0.21
COADchr11108295089Intronnovel0.21
COADchr11108334984Nonsense_MutationnovelE2676*0.24
COADchr11108259022Nonsense_Mutationrs780619951R805*0.43
COADchr11108251987Missense_MutationNAE586D0.17
COADchr11108247071Missense_Mutationrs138398778R337C0.29
COADchr11108294937Missense_MutationnovelH1596P0.06
COADchr11108301790Splice_SitenovelX1773_splice0.86
COADchr11108284225Splice_SitenovelX1249_splice0.39
COADchr11108301647Splice_SitenovelX1726_splice0.39
COADchr11108329236Missense_MutationNAN2435K0.38
COADchr11108247072Missense_Mutationrs202160435R337H0.37
COADchr11108330216Missense_MutationNAY2437C0.33
COADchr11108289697Frame_Shift_InsNAV1446Cfs*20.25
COADchr11108310270Missense_MutationNAA1958V0.31
COADchr11108247083Missense_Mutationrs200601781V341I0.04
COADchr11108252889Frame_Shift_DelnovelF627Sfs*220.4
COADchr11108245000Missense_Mutationrs747727055P292L0.7
COADchr11108327731SilentnovelA2354A0.07
COADchr11108347309Missense_MutationnovelH2872R0.36
COADchr11108353856Missense_Mutationrs730881329T2921M0.45
COADchr11108335854Missense_MutationnovelD2721N0.35
COADchr11108289075Missense_MutationnovelS1403N0.09
COADchr11108345750Frame_Shift_Delrs759472682K2811Sfs*460.34
COADchr11108244090Frame_Shift_DelNAS214Pfs*160.39
COADchr11108289008Missense_MutationnovelF1381L0.04
COADchr11108292648Missense_Mutationrs201594549R1489H0.38
COADchr11108227882Frame_Shift_DelNAF61Lfs*150.54
COADchr11108343260Nonsense_Mutationrs778269655W2769*0.4
COADchr11108330233Nonsense_Mutationrs121434220R2443*0.37
COADchr11108326153Frame_Shift_DelnovelK2303Rfs*70.12
COADchr11108267314Silentrs587780618N870N0.18
COADchr11108281098Frame_Shift_DelNAK1170Nfs*110.26
COADchr11108335921Missense_Mutationrs730881321T2743M0.24
COADchr11108254037Nonsense_MutationnovelE708*0.44
COADchr11108293438Missense_MutationnovelQ1579H0.23
COADchr11108250960Missense_MutationNAQ499E0.47
COADchr11108297299Frame_Shift_InsnovelG1642Wfs*230.78
COADchr11108271399Missense_MutationnovelA1024T0.3
COADchr11108316029Silentrs774993357H2038H0.32
COADchr11108325426Frame_Shift_DelNAL2231Wfs*40.52
COADchr11108304687Frame_Shift_DelnovelC1838Vfs*80.42
COADchr11108271401Frame_Shift_InsNAW1026Lfs*220.36
COADchr11108292698Missense_MutationnovelV1506M0.2
COADchr11108244873Nonsense_Mutationrs772821016R250*0.24
COADchr11108252848Missense_Mutationrs747242300L612I0.11
COADchr11108295002Nonsense_Mutationrs762083530R1618*0.1
COADchr11108271274Missense_MutationnovelR982L0.12
COADchr11108244120Splice_SiteNAX221_splice0.34
COADchr11108250942Missense_Mutationrs750280306R493C0.36
COADchr11108282874Missense_MutationNAF1247L0.4
COADchr11108304801Nonsense_Mutationrs376603775R1875*0.32
COADchr11108302997Nonsense_MutationNAE1822*0.7
COADchr11108299878Missense_MutationnovelE1724Q0.27
COADchr11108271273Missense_Mutationrs587779830R982C0.27
COADchr11108247071Missense_Mutationrs138398778R337C0.37
COADchr11108326153Frame_Shift_DelnovelK2303Rfs*70.37
COADchr11108284473Splice_RegionNAQ1331Q0.18
COADchr11108251903SilentNAG558G0.33
COADchr11108329220Missense_Mutationrs786202856H2430R0.3
COADchr11108250896Missense_MutationNAK477N0.17
COADchr11108301658Nonsense_Mutationrs764389018R1730*0.29
COADchr11108317403Missense_MutationNAL2077I0.19
COADchr11108315825Missense_MutationNAD2003E0.12
COADchr11108293459Frame_Shift_DelnovelP1587Ffs*130.08
COADchr11108329168Frame_Shift_InsnovelK2413Tfs*110.06
COADchr11108335026In_Frame_InsnovelF2690delinsYII0.12
COADchr11108316015Nonsense_Mutationrs532480170R2034*0.21
COADchr11108297025Intronnovel0.5
COADchr11108310315Missense_MutationNAR1973I0.37
COADchr11108365426Missense_MutationNAG3030V0.23
COADchr11108294972Frame_Shift_InsnovelT1609*0.23
COADchr11108329204Frame_Shift_DelNAG2425Vfs*150.33
COADchr11108365360Missense_Mutationrs587781894R3008H0.41
DLBCchr11108331991Missense_MutationnovelS2581T0.26
ESCAchr11108332854SilentnovelY2627Y0.29
ESCAchr11108279550Missense_MutationnovelL1115P0.29
ESCAchr11108315862Missense_MutationnovelD2016H0.31
ESCAchr11108293374Missense_Mutationrs587781712T1558M0.2
ESCAchr11108284472Missense_MutationnovelQ1331R0.1
ESCAchr11108272801Missense_MutationnovelL1078R0.15
ESCAchr11108343255Missense_MutationnovelE2768Q0.1
GBMchr11108330381Missense_Mutationrs56399857L2492R0.28
GBMchr11108279585Missense_MutationnovelA1127T0.21
GBMchr11108301728Missense_Mutationrs777481236Y1753C0.51
GBMchr11108250940Missense_MutationnovelF492C0.39
GBMchr11108268521Missense_MutationnovelS917F0.46
GBMchr11108289015Missense_Mutationrs141087784S1383L0.38
GBMchr11108292782Missense_MutationnovelV1534I0.2
GBMchr11108329155Frame_Shift_DelnovelE2409Nfs*90.19
HNSCchr11108353791Missense_MutationnovelI2899M0.42
HNSCchr11108365193Missense_MutationnovelD2988N0.08
HNSCchr11108335953Missense_Mutationrs587781414T2754A0.23
HNSCchr11108327667Missense_Mutationrs150503164T2333I0.34
HNSCchr11108354818Missense_MutationnovelE2932K0.29
HNSCchr11108235710SilentnovelI124I0.26
HNSCchr11108289679SilentnovelI1438I0.09
HNSCchr11108247071Missense_Mutationrs138398778R337C0.79
HNSCchr11108272725Missense_MutationnovelD1053N0.23
HNSCchr11108244837Missense_Mutationrs754275014I238V0.31
HNSCchr11108272557Missense_MutationnovelI1035V0.3
HNSCchr11108302995Nonsense_MutationnovelC1821*0.1
HNSCchr11108365326Missense_MutationnovelD2997N0.41
HNSCchr11108325449Missense_MutationnovelE2238Q0.11
HNSCchr11108335940Missense_MutationnovelK2749N0.54
HNSCchr11108301645Splice_Regionnovel0.2
HNSCchr11108292698Missense_MutationnovelV1506M0.11
HNSCchr11108343257Silentrs756686570E2768E0.75
HNSCchr11108250701Missense_MutationnovelW412C0.14
KICHchr11108256261Missense_MutationnovelG724V0.31
KICHchr11108330287Missense_Mutationrs201314561R2461C0.58
KIRCchr11108256336Frame_Shift_DelnovelK750Sfs*30.31
KIRCchr11108271147Splice_Siters587781558X974_splice0.08
KIRCchr11108316109Frame_Shift_DelnovelQ2066Rfs*160.31
KIRCchr11108365347Missense_MutationNAK3004E0.13
KIRCchr11108268425Frame_Shift_DelnovelA886Kfs*120.14
KIRCchr11108279573Missense_MutationnovelA1123T0.13
KIRCchr11108299741Missense_MutationNAV1678G0.25
KIRCchr11108271089Missense_MutationNAP955L0.05
KIRCchr11108330386Missense_MutationNAN2494Y0.32
KIRCchr11108332890Frame_Shift_DelNAT2640Lfs*60.34
KIRCchr11108288972Splice_SitenovelX1370_splice0.23
KIRCchr11108250952Frame_Shift_DelnovelS496Ifs*160.17
KIRCchr11108331987Nonsense_MutationNAR2580*0.21
KIRCchr11108335845Missense_MutationNAG2718R0.5
KIRCchr11108325528Missense_MutationNAT2264I0.21
KIRCchr11108244873Nonsense_Mutationrs772821016R250*0.3
KIRCchr11108256335Missense_MutationNAA749T0.33
KIRCchr11108268497Missense_MutationnovelT909I0.22
KIRCchr11108329186Nonsense_MutationNAR2419*0.28
KIRPchr11108365352SilentnovelV3005V0.73
KIRPchr11108343246Missense_Mutationrs748634900G2765S0.05
KIRPchr11108335882Missense_MutationNAQ2730P0.34
KIRPchr11108272609Splice_SiteNAX1051_splice0.1
KIRPchr11108284475Splice_SiteNAX1331_splice0.35
LAMLchr11108267268Missense_MutationnovelM855K0.18
LAMLchr11108327698Missense_MutationnovelN2343K0.2
LAMLchr11108345837Missense_MutationnovelK2838I0.07
LGGchr11108254032Nonsense_MutationnovelS706*0.39
LGGchr11108250763Missense_MutationnovelS433Y0.13
LGGchr11108251848Missense_MutationNAC540Y0.44
LGGchr11108282862SilentnovelN1243N0.09
LGGchr11108295003Missense_Mutationrs765759912R1618Q0.44
LGGchr11108287653In_Frame_DelnovelT1350del0.94
LIHCchr11108297284Splice_Regionnovel0.38
LIHCchr11108247071Missense_Mutationrs138398778R337C0.32
LIHCchr11108256305Nonsense_MutationNAE739*0.38
LIHCchr11108304719SilentNAH1847H0.43
LIHCchr11108267304Missense_MutationNAS867T0.47
LIHCchr11108335880Missense_Mutationrs587781946Q2729H0.56
LIHCchr11108329214Missense_MutationnovelR2428T0.1
LIHCchr11108334967Splice_SitenovelX2671_splice0.56
LIHCchr11108301772Missense_MutationNAR1768G0.13
LIHCchr11108244111Missense_MutationnovelC219S0.36
LIHCchr11108347348Missense_MutationNAL2885H0.49
LIHCchr11108243977Missense_MutationNAL174R0.23
LIHCchr11108253957Missense_MutationnovelS681C0.39
LUADchr11108287598Splice_SitenovelX1332_splice0.22
LUADchr11108289685Missense_MutationnovelK1440N0.28
LUADchr11108312427Nonsense_MutationNAE1979*0.19
LUADchr11108335041Missense_MutationNAG2695S0.43
LUADchr11108345818Missense_Mutationrs587779872R2832C0.24
LUADchr11108252896Nonsense_MutationNAQ628*0.1
LUADchr11108335041Missense_MutationNAG2695C0.33
LUADchr11108247128Splice_SiteNAX355_splice0.17
LUADchr11108282806Nonsense_MutationnovelQ1225*0.12
LUADchr11108244081Frame_Shift_DelnovelL210Wfs*200.12
LUADchr11108365380Nonsense_MutationNAE3015*0.59
LUADchr11108272538Frame_Shift_DelnovelT1029Qfs*100.67
LUADchr11108267225Missense_MutationNAD841Y0.54
LUADchr11108244873Frame_Shift_DelnovelR250Sfs*30.24
LUADchr11108315832Frame_Shift_DelnovelL2006*0.3
LUADchr11108244867Nonsense_Mutationrs730881336R248*0.07
LUADchr11108365106Missense_MutationNAD2959H0.2
LUADchr11108335851Missense_MutationNAD2720H0.13
LUADchr11108332853Missense_Mutationrs767670019Y2627C0.54
LUADchr11108259065Frame_Shift_DelnovelC819Lfs*40.31
LUADchr11108284453Missense_MutationnovelE1325Q0.13
LUADchr11108299759Missense_MutationnovelS1684C0.44
LUADchr11108253862Missense_MutationnovelE649D0.39
LUADchr11108271092Missense_Mutationrs752099312G956E0.09
LUADchr11108304689Missense_MutationnovelF1837L0.19
LUADchr11108247071Missense_Mutationrs138398778R337C0.63
LUADchr11108310314Missense_Mutationrs786202089R1973G0.07
LUADchr11108347363Missense_MutationNAL2890R0.43
LUADchr11108289674Nonsense_MutationNAR1437*0.14
LUADchr11108251917Missense_MutationNAM563T0.38
LUADchr11108257538Nonsense_MutationNAE770*0.31
LUADchr11108333962Splice_SitenovelX2669_splice0.19
LUADchr11108268523Frame_Shift_InsnovelI923*0.38
LUADchr11108245008Missense_MutationNAA295P0.51
LUADchr11108316043Missense_Mutationrs753384717G2043V0.42
LUADchr11108289009Missense_MutationNAF1381C0.05
LUADchr11108329168Missense_MutationNAK2413Q0.1
LUADchr11108272721Splice_SiteNAX1052_splice0.26
LUADchr11108365106Missense_MutationnovelD2959N0.24
LUADchr11108365360Missense_Mutationrs587781894R3008H0.23
LUADchr11108343268Missense_Mutationrs775293524G2772E0.1
LUADchr11108257480Frame_Shift_InsnovelS751Ffs*140.15
LUADchr11108292642Nonsense_MutationNAS1487*0.3
LUADchr11108272825Missense_Mutationrs769857066R1086L0.68
LUADchr11108312489Frame_Shift_InsnovelS2000Nfs*40.1
LUADchr11108312417SilentNAL1975L0.1
LUADchr11108335080Missense_Mutationrs587782719D2708N0.53
LUADchr11108325452Missense_MutationnovelM2239V0.04
LUADchr11108253892Missense_MutationnovelK659N0.16
LUADchr11108282719Nonsense_MutationNAK1196*0.73
LUADchr11108268463Missense_MutationNAL898V0.13
LUADchr11108347325SilentNAL2877L0.06
LUADchr11108329194Missense_MutationnovelK2421N0.24
LUADchr11108250745Nonsense_MutationNAL427*0.24
LUADchr11108335102Missense_MutationNAL2715R0.48
LUADchr11108365493Missense_MutationNAW3052C0.39
LUADchr11108331565Splice_Regionnovel0.27
LUSCchr11108244814Missense_MutationnovelN230I0.33
LUSCchr11108227808SilentNAR35R0.27
LUSCchr11108229330Splice_Regionnovel0.53
LUSCchr11108297364Missense_MutationNAG1663C0.23
LUSCchr11108249083Missense_MutationNAD406N0.16
LUSCchr11108229185Nonsense_MutationnovelQ65*0.5
LUSCchr11108284434SilentnovelV1318V0.14
LUSCchr11108333908Missense_MutationnovelD2650E0.04
LUSCchr11108288984Missense_MutationnovelD1373N0.2
LUSCchr11108293343Missense_MutationnovelD1548H0.42
LUSCchr11108294992SilentnovelL1614L0.44
LUSCchr11108329112Missense_Mutationrs587779861S2394L0.45
LUSCchr11108299827Missense_MutationnovelE1707K0.13
LUSCchr11108289657Missense_Mutationrs201356803N1431S0.3
LUSCchr11108284447Missense_MutationNAK1323E0.13
LUSCchr11108329182SilentnovelL2417L0.42
LUSCchr11108302987SilentnovelG1818G0.36
LUSCchr11108252004Missense_Mutationrs776911505S592N0.15
LUSCchr11108353831Missense_Mutationrs756899044D2913H0.3
LUSCchr11108331876Splice_Regionnovel0.2
LUSCchr11108292754Frame_Shift_InsnovelI1525Nfs*60.21
LUSCchr11108353783Missense_MutationNAG2897S0.33
LUSCchr11108304790Missense_Mutationrs538452060T1871I0.42
LUSCchr11108365190Missense_MutationNAD2987Y0.09
LUSCchr11108347339Nonsense_MutationnovelS2882*0.22
LUSCchr11108326079Nonsense_MutationnovelQ2277*0.46
LUSCchr11108299733Missense_MutationNAL1675F0.12
LUSCchr11108252008SilentnovelT593T0.26
LUSCchr11108295073Intronnovel0.31
LUSCchr11108271394Missense_MutationnovelI1022T0.26
LUSCchr11108354817Missense_MutationnovelC2931W0.25
LUSCchr11108320030Missense_MutationnovelT2142A0.29
LUSCchr11108227775Splice_SiteNAX25_splice0.17
LUSCchr11108279550Frame_Shift_DelnovelQ1116Sfs*100.49
LUSCchr11108343225Missense_MutationnovelV2758L0.23
LUSCchr11108320019Missense_MutationnovelR2138T0.11
OVchr11108295313Intronnovel0.19
OVchr11108284412Missense_MutationnovelQ1311L0.05
OVchr11108244042Missense_MutationnovelK196E0.17
OVchr11108310180Missense_MutationNAF1928C0.25
OVchr11108282755Missense_MutationNAD1208H0.18
OVchr11108244853Missense_Mutationrs786202096L243S0.46
OVchr11108329171Nonsense_MutationNAQ2414*0.43
OVchr11108307971Splice_SiteNAX1917_splice0.25
OVchr11108257568Missense_MutationnovelM780V0.07
OVchr11108250816Missense_Mutationrs201719927R451C0.56
OVchr11108331447Missense_MutationNAD2507N0.32
OVchr11108326113Missense_MutationnovelV2288A0.12
OVchr11108227692Missense_Mutationrs587779858R23Q0.48
OVchr11108365092Missense_Mutationrs767507047Y2954C0.38
OVchr11108271340Missense_MutationnovelS1004I0.16
PAADchr11108365426Missense_MutationNAG3030V0.41
PAADchr11108287646Nonsense_MutationNAL1347*0.88
PAADchr11108329199Missense_Mutationrs121434221E2423G0.49
PAADchr11108253812Splice_SitenovelX633_splice0.6
PAADchr11108327727Missense_MutationnovelP2353H0.17
PAADchr11108330281Missense_Mutationrs730881383R2459C0.2
PAADchr11108343292Missense_MutationNAL2780R0.18
PAADchr11108354825Missense_MutationnovelT2934I0.15
PAADchr11108271057Splice_SitenovelX947_splice0.13
PAADchr11108307915Missense_Mutationrs370680798R1898Q0.04
PAADchr11108247071Missense_Mutationrs138398778R337C0.17
PCPGchr11108303008SilentnovelQ1825Q0.09
PRADchr11108347318Missense_Mutationrs587782451N2875S0.91
PRADchr11108247071Missense_Mutationrs138398778R337C0.61
PRADchr11108335041Missense_MutationNAG2695S0.13
PRADchr11108343309Missense_MutationNAG2786S0.25
PRADchr11108353851SilentnovelG2919G0.23
PRADchr11108272558In_Frame_DelnovelF1036_V1038del0.47
PRADchr11108330264Missense_MutationNAR2453P0.77
PRADchr11108310204Missense_MutationNAL1936S0.27
PRADchr11108289053Frame_Shift_DelnovelC1396*0.19
PRADchr11108293404Missense_MutationNAH1568L0.07
PRADchr11108321338Missense_MutationNAE2164K0.34
PRADchr11108310208Frame_Shift_DelnovelY1938Ifs*20.26
PRADchr11108304715Missense_MutationnovelI1846N0.42
PRADchr11108272800Missense_MutationNAL1078V0.09
PRADchr11108299723Missense_MutationNAG1672A0.11
PRADchr11108250916Frame_Shift_DelnovelW484*0.22
PRADchr11108354834Missense_MutationNAV2937G0.15
PRADchr11108329056SilentnovelS2375S0.39
PRADchr11108347319Missense_MutationNAN2875K0.22
PRADchr11108254008Frame_Shift_DelnovelS698*0.17
PRADchr11108335038Missense_MutationNAG2694R0.22
READchr11108247071Missense_Mutationrs138398778R337C0.53
READchr11108259012SilentnovelG801G0.25
READchr11108301658Nonsense_Mutationrs764389018R1730*0.29
READchr11108244797Missense_Mutationrs769731317K224N0.32
READchr11108345759Missense_MutationNAS2812Y0.46
READchr11108247071Missense_Mutationrs138398778R337C0.28
READchr11108365345Missense_Mutationrs144636562N3003S0.35
READchr11108347318Missense_Mutationrs587782451N2875S0.26
READchr11108247072Missense_Mutationrs202160435R337H0.48
READchr11108345869Nonsense_Mutationrs587778080R2849*0.24
READchr11108271262Missense_MutationnovelS978Y0.19
READchr11108331918Missense_MutationNAL2557V0.21
READchr11108268595Missense_MutationnovelL942I0.39
READchr11108281041Missense_MutationnovelR1150I0.38
READchr11108282782Missense_MutationnovelL1217M0.38
READchr11108287545Intronnovel0.3
READchr11108289089Missense_MutationNAL1408I0.31
READchr11108289761Nonsense_Mutationrs730881369R1466*0.46
READchr11108292646SilentnovelL1488L0.38
READchr11108295343Intronnovel0.6
READchr11108301658Nonsense_Mutationrs764389018R1730*0.39
READchr11108320045Missense_MutationnovelL2147I0.3
READchr11108325488Missense_MutationnovelL2251I0.4
READchr11108244873Nonsense_Mutationrs772821016R250*0.17
READchr11108289089Missense_MutationNAL1408I0.21
READchr11108299752Missense_MutationNAD1682Y0.3
READchr11108316030Missense_MutationNAE2039K0.45
READchr11108307985Splice_SitenovelX1921_splice0.35
READchr11108326152Frame_Shift_Insrs773570504E2304Gfs*690.43
SARCchr11108249053Missense_MutationnovelI396L0.12
SARCchr11108289040SilentnovelA1391A0.22
SARCchr11108282718SilentnovelE1195E0.4
SARCchr11108247071Missense_Mutationrs138398778R337C0.8
SARCchr11108287482Intronnovel0.39
SARCchr11108287545Intronnovel0.37
SARCchr11108293467Missense_MutationnovelS1589L0.79
SARCchr11108329178Missense_MutationNAL2416P0.58
SARCchr11108249065Missense_MutationnovelL400I0.29
SARCchr11108289070Frame_Shift_DelnovelS1403Afs*30.2
SARCchr11108289075Missense_MutationnovelS1403I0.19
SKCMchr11108316081Missense_MutationNAP2056S0.29
SKCMchr11108253907SilentNAT664T0.27
SKCMchr11108343347SilentnovelA2798A0.44
SKCMchr11108316107SilentnovelI2064I0.21
SKCMchr11108247071Missense_Mutationrs138398778R337C0.54
SKCMchr11108247071Missense_Mutationrs138398778R337C0.23
SKCMchr11108267287SilentNAY861Y0.24
SKCMchr11108287592Splice_Regionnovel0.1
SKCMchr11108331548SilentNAV2540V0.23
SKCMchr11108331903Missense_MutationnovelH2552Y0.06
SKCMchr11108272773Missense_Mutationrs751714261P1069S0.61
SKCMchr11108235828Frame_Shift_Insnovel0.45
SKCMchr11108289010SilentNAF1381F0.28
SKCMchr11108292658Silentrs780236656S1492S0.19
SKCMchr11108250753Missense_MutationNAC430S0.43
SKCMchr11108250835Missense_Mutationrs780097986R457Q0.39
SKCMchr11108331505Missense_MutationNAR2526K0.29
SKCMchr11108268522SilentNAS917S0.69
SKCMchr11108321351Missense_Mutationrs200431631S2168L0.43
SKCMchr11108289692Missense_MutationnovelH1443Y0.14
SKCMchr11108343228Missense_Mutationrs764906663P2759S0.37
SKCMchr11108293366Silentrs374431061L1555L0.42
SKCMchr11108259019SilentnovelL804L0.22
SKCMchr11108304821SilentNAS1881S0.33
SKCMchr11108365484SilentNAF3049F0.39
SKCMchr11108251034SilentNAF523F0.36
SKCMchr11108310237Missense_MutationnovelS1947Y0.82
SKCMchr11108295005SilentnovelR1619R0.2
SKCMchr11108326226Splice_SiteNAX2325_splice0.53
SKCMchr11108317469Missense_MutationnovelH2099Y0.57
SKCMchr11108294935SilentnovelN1595N0.3
SKCMchr11108284415Missense_MutationNAR1312K0.56
SKCMchr11108353791SilentNAI2899I0.32
SKCMchr11108354834Missense_MutationNAV2937G0.33
SKCMchr11108327758Missense_MutationNAK2363N0.77
SKCMchr11108268594SilentNAS941S0.56
SKCMchr11108244993Missense_MutationNAH290Y0.23
SKCMchr11108250850Missense_MutationNAV462A0.31
SKCMchr11108365179Missense_MutationNAT2983S0.06
SKCMchr11108335029Missense_Mutationrs531980488R2691C0.25
SKCMchr11108227806Nonsense_Mutationrs55861249R35*0.67
SKCMchr11108332840Missense_MutationNAL2623F0.97
SKCMchr11108284284SilentNAV1268V0.19
STADchr11108331930Missense_MutationNAL2561M0.1
STADchr11108244096Missense_Mutationrs747053710S214P0.25
STADchr11108292680Nonsense_MutationNAQ1500*0.39
STADchr11108330378Missense_MutationNAW2491L0.26
STADchr11108259057SilentNAA816A0.16
STADchr11108247085Frame_Shift_InsnovelE343Rfs*50.29
STADchr11108289748Missense_MutationNAW1461C0.19
STADchr11108301698Frame_Shift_InsnovelT1745Dfs*40.48
STADchr11108272851Missense_MutationNAR1095G0.23
STADchr11108330350Missense_MutationnovelM2482V0.24
STADchr11108289762Missense_Mutationrs749770110R1466Q0.23
STADchr11108247047Frame_Shift_DelnovelR329Kfs*80.12
STADchr11108299727SilentNAS1673S0.24
STADchr11108227692Missense_Mutationrs587779858R23Q0.37
STADchr11108267315Missense_MutationNAE871K0.39
STADchr11108332765Nonsense_Mutationrs138941496R2598*0.23
STADchr11108343240Nonsense_MutationNAR2763*0.23
STADchr11108281160Missense_MutationnovelV1190L0.35
STADchr11108317444Missense_MutationnovelD2090E0.16
STADchr11108284434SilentNAV1318V0.29
STADchr11108289070Frame_Shift_DelnovelS1403Afs*30.27
STADchr11108293436Frame_Shift_InsNAI1581Nfs*50.12
STADchr11108329124Missense_MutationNAY2398C0.12
STADchr11108325469SilentnovelR2244R0.07
STADchr11108307929Frame_Shift_DelnovelK1904Nfs*130.38
STADchr11108284386SilentNAG1302G0.1
STADchr11108329159Missense_Mutationrs193302874F2410L0.64
STADchr11108247071Missense_Mutationrs138398778R337C0.18
STADchr11108347362Missense_Mutationrs587779874L2890V0.24
STADchr11108272574Missense_MutationnovelM1040I0.33
STADchr11108335080Missense_Mutationrs587782719D2708N0.31
STADchr11108250979Missense_MutationnovelF505C0.15
STADchr11108345750Frame_Shift_Delrs759472682K2811Sfs*460.14
STADchr11108345818Missense_Mutationrs587779872R2832C0.21
STADchr11108244090Frame_Shift_DelNAS214Pfs*160.22
STADchr11108244856Missense_MutationNAA244V0.16
STADchr11108345750Frame_Shift_DelnovelK2811Vfs*30.76
STADchr11108289059Frame_Shift_DelnovelT1399Pfs*30.27
STADchr11108247071Missense_Mutationrs138398778R337C0.2
STADchr11108345750Frame_Shift_Delrs759472682K2811Sfs*460.2
STADchr11108227689Missense_MutationnovelE22G0.1
STADchr11108304823Missense_Mutationrs587782236R1882Q0.34
STADchr11108321300Splice_SiteNAX2151_splice0.11
STADchr11108345750Frame_Shift_Delrs759472682K2811Sfs*460.4
STADchr11108365142Nonsense_MutationNAQ2971*0.16
STADchr11108227636Silentrs786201365V4V0.3
STADchr11108297354Missense_MutationNAI1659M0.16
STADchr11108335015Missense_MutationNAF2686C0.6
STADchr11108257498SilentNAA756A0.08
STADchr11108289089Missense_MutationNAL1408F0.14
STADchr11108331949Missense_MutationNAN2567S0.16
STADchr11108365359Missense_Mutationrs587782292R3008C0.17
STADchr11108343322Missense_MutationNAR2790K0.22
STADchr11108304812Silentrs767070325S1878S0.12
STADchr11108289724Frame_Shift_DelnovelS1455Vfs*30.43
STADchr11108247066Missense_MutationNAG335E0.09
STADchr11108250960Nonsense_MutationnovelQ499*