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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATM Gene

protein-coding   GIFtS: 77
GCID: GC11P108093

Ataxia Telangiectasia Mutated

(Previous names: ataxia telangiectasia mutated (includes complementation...)
(Previous symbols: ATA, ATDC, ATC, ATD)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ataxia Telangiectasia Mutated1 2 3     Ataxia Telangiectasia Mutated (Includes Complementation Groups A, C And D)1
ATA1 2 5     Homolog (S. Cerevisiae)1
ATC1 2     Telomere Maintenance 11
ATD1 2     ATE2
ATDC1 2     TELO12
TEL11 2     AT Mutated2
A-T Mutated2 3     Serine-Protein Kinase ATM2
EC 2.7.11.13 8     TEL1, Telomere Maintenance 1, Homolog2
AT12 5     

External Ids:    HGNC: 7951   Entrez Gene: 4722   Ensembl: ENSG000001493117   OMIM: 6075855   UniProtKB: Q133153   

Export aliases for ATM gene to outside databases

Previous GC identifers: GC11P110302 GC11P109450 GC11P108127 GC11P107631 GC11P107599 GC11P104019


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATM Gene:
The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle
checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream
proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17
and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master
controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for
genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive
disorder. (provided by RefSeq, Aug 2010)

GeneCards Summary for ATM Gene: 
ATM (ataxia telangiectasia mutated) is a protein-coding gene. Diseases associated with ATM include ataxia telangiectasia, and chromosome 11q deletion, and among its related super-pathways are Fanconi Anemia pathway and Cell cycle. GO annotations related to this gene include protein serine/threonine kinase activity and protein complex binding.

UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315
Function: Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs),
apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage
sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant
H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in
pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to
enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual
B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by
mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to
the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle
control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates DYRK2,
CHEK2, p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9 and DCLRE1C. May play a role in vesicle
and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role
in replication-dependent histone mRNA degradation. Binds DNA ends. Phosphorylation of DYRK2 in nucleus in
response to genotoxic stress prevents its MDM2-mediated ubiquitination and subsequent proteasome degradation

summary for ATM Gene:
ATM (Ataxia telangiectasia mutated) and ATR (Ataxia telangiectasia and Rad3 related) are closely related
kinases that are activated by DNA damage. These serine-threonine protein kinases are part of the
phosphatidylinositol 3' kinase-like kinase (PIKK) family. Upon recruitment by the DNA damage binding
proteins/complexes (ATRIP for ATR; MRN for ATM), ATM/ATR initiate the DNA damage checkpoint by
phosphorylating a number of key proteins. Once activated, the checkpoint leads to cell cycle arrest and
either DNA repair or apoptosis. ATM is activated by double stranded breaks and phosphorylates Chk2, whilst
ATR is activated by single strand breaks and phosphorylates Chk1.

Gene Wiki entry for ATM (Ataxia telangiectasia mutated) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_033899.8  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATM gene promoter:
         CREB   AP-1   deltaCREB   ATF-2   c-Jun   STAT5A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): ATM promoter sequence
   Search SABiosciences Chromatin IP Primers for ATM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATM


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q22-q23   Ensembl cytogenetic band:  11q22.3   HGNC cytogenetic band: 11q22-q23

ATM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATM gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P108093:  view genomic region     (about GC identifiers)

Start:
108,093,211 bp from pter      End:
108,239,829 bp from pter
Size:
146,619 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315 (See protein sequence)
Recommended Name: Serine-protein kinase ATM  
Size: 3056 amino acids; 350714 Da
Subunit: Dimers or tetramers in inactive state. On DNA damage, autophosphorylation dissociates ATM into monomers
rendering them catalytically active. Binds p53/TP53, ABL1, BRCA1, NBN/nibrin and TERF1. Part of the
BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and
the RAD50-MRE11-NBN protein complex. This association could be a dynamic process changing throughout the cell
cycle and within subnuclear domains. Interacts with RAD17; DNA damage promotes the association. Interacts with
EEF1E1; the interaction, induced on DNA damage, up-regulates TP53. Interacts with DCLRE1C, KAT8, KAT5, NABP2,
ATMIN and CEP164. Interacts with AP2B1 and AP3B2; the interaction occurs in cytoplasmic vesicles (By similarity).
Interacts with TELO2 and TTI1. Interacts with DDX1
Subcellular location: Nucleus. Cytoplasmic vesicle. Note=Primarily nuclear. Found also in endocytic vesicles in
association with beta-adaptin
Sequence caution: Sequence=AAA86520.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAA86520.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=AAI37170.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI37170.1; Type=Miscellaneous
discrepancy; Note=Probable cloning artifact; Sequence=EAW67111.1; Type=Erroneous gene model prediction;
Secondary accessions: B2RNX5 O15429 Q12758 Q16551 Q93007 Q9NP02 Q9UCX7

Explore the universe of human proteins at neXtProt for ATM: NX_Q13315

Explore proteomics data for ATM at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by NUAK1/ARK5. Autophosphorylation on Ser-367, Ser-1893, Ser-1981 correlates with DNA
    damage-mediated activation of the kinase
  • UniProtKB: Acetylation, on DNA damage, is required for activation of the kinase activity, dimer-monomer transition, and
    subsequent autophosphorylation on Ser-1981. Acetylated in vitro by KAT5/TIP60
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13315

  • 4/6 DME Specific Peptides for ATM (Q13315) (see all 6)
     TYKVVPL  EPDSLYG  EGVFRRC  DDLRQDA 

    ATM Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATM Protein Expression
    REFSEQ proteins: NP_000042.3  
    ENSEMBL proteins: 
     ENSP00000435747   ENSP00000433955   ENSP00000432318   ENSP00000388058   ENSP00000469471  
     ENSP00000434327   ENSP00000435524   ENSP00000278616  
    Reactome Protein details: Q13315
    Human Recombinant Protein Products for ATM: 
    EMD Millipore Purified and/or Recombinant ATM Protein
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for ATM
    GenScript Custom Purified and Recombinant Proteins Services for ATM
    Novus Biologicals ATM Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ATM 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000781colocalizes with chromosome, telomeric region IDA15149599
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm ----
    GO:0005819spindle IEA--

    ATM for ontologies           About GeneDecksing



    ATM Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of ATM
    R&D Systems Antibodies for ATM
    Cell Signaling Technology (CST) Antibodies for ATM 
    OriGene Antibodies for ATM
    OriGene Custom Antibody Services for ATM
    GenScript Custom Superior Antibodies Services for ATM
    Novus Biologicals ATM Antibodies
    Abcam antibodies for ATM
    Cloud-Clone Corp. Antibodies for ATM 
    ThermoFisher Antibody for ATM
    LSBio Antibodies in human, mouse, rat for ATM 

    Assay Products for ATM: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ATM
    R&D Systems ELISAs for ATM
    GenScript Custom Assay Services for ATM
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ATM 
    Cloud-Clone Corp. CLIAs for ATM


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: ataxia telangiectasia mutated 
    Other PIKK family kinases

    5/9 InterPro protein domains (see all 9):
     IPR000403 PI3/4_kinase_cat_dom
     IPR011009 Kinase-like_dom
     IPR021668 TAN
     IPR003151 PIK-rel_kinase_FAT
     IPR015519 ATM/Tel1

    Graphical View of Domain Structure for InterPro Entry Q13315

    ProtoNet protein and cluster: Q13315

    2 Blocks protein domains:
    IPB000403 Phosphatidylinositol 3- and 4-kinase
    IPB003151 PIK-related kinase


    UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315
    Domain: The FATC domain is required for interaction with KAT5
    Similarity: Belongs to the PI3/PI4-kinase family. ATM subfamily
    Similarity: Contains 1 FAT domain
    Similarity: Contains 1 FATC domain
    Similarity: Contains 1 PI3K/PI4K domain


    ATM for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATM_HUMAN, Q13315
    Function: Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs),
    apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage
    sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant
    H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in
    pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to
    enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual
    B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by
    mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to
    the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle
    control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates DYRK2,
    CHEK2, p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9 and DCLRE1C. May play a role in vesicle
    and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role
    in replication-dependent histone mRNA degradation. Binds DNA ends. Phosphorylation of DYRK2 in nucleus in
    response to genotoxic stress prevents its MDM2-mediated ubiquitination and subsequent proteasome degradation
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Inhibited by wortmannin
    Induction: By ionizing radiation

         Genatlas biochemistry entry for ATM:
    ataxia telangiectasia,mutated,protein kinase,involved in cellular responses to ionizing radiation (IR)-induced DNA
    damage such as double strand breaks and cell cycle control through phosphorylation of BRCA1,homologous to cell
    cycle G2 checkpoint gene yeast MEC1 and related TEL1,RAD3 (S pombe),Drosophila mei-41,also homologous to yeast
    TOR1,TOR2, activating TP53 in association with 14.3.3 proteins YWHA*,and leading to cell cycle arrest and
    apoptosis,also activating ABL1 (cABL) and TP73 in a mismatch repair dependent apoptosis pathway,interacting with
    beta adaptin for the axonal transport and vesicle trafficking in the central nervous system,mutated (somatic
    mutation) in B cell chronic lymphocytic leukemia,also mutated in ataxia telangiectasia (see AT),but not mutated
    in childhood T-ALL,deleted in mantle cell lymphoma (see also TSG11F)

         Enzyme Number (IUBMB): EC 2.7.11.11 2

         Gene Ontology (GO): 5/14 molecular function terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IDA11375976
    GO:0004677DNA-dependent protein kinase activity IDA15790808
    GO:0005488binding ----
         
    ATM for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for ATM:
     Decreased focal adhesion (FA)   Decreased substrate adherent c  Increased apoptosis  PARP inhibitor sensitization 

         11 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Atm):
     behavior/neurological  cellular  embryogenesis  endocrine/exocrine gland  growth/size 
     hematopoietic system  immune system  mortality/aging  nervous system  reproductive system 
     tumorigenesis 

    ATM for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ATM: Atmtm1Pmc Atmtm1Awb Atmtm1Led Atmtm1Bal Atmtm1Fwa Atmtm1Mfl

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ATM 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ATM

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATM 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATM 

    miRNA
    Products:
        
    miRTarBase miRNAs that target ATM:
    hsa-mir-374a (MIRT005573), hsa-mir-421 (MIRT003215), hsa-mir-101 (MIRT005560), hsa-mir-100 (MIRT005913), hsa-mir-181a (MIRT005576), hsa-mir-101 (MIRT005559)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATM
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate ATM (see all 15):
    hsa-miR-34c-3p hsa-miR-203 hsa-miR-18a hsa-miR-181c hsa-miR-516b hsa-miR-181a hsa-miR-519c-3p hsa-miR-181d
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ATM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATM

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ATM


    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ATM (see all 9)
    OriGene ORF clones in mouse, rat for ATM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ATM (NM_000051)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATM

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ATM
    Search LifeMap BioReagents cell lines for ATM
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATM


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATM About   (see all 49)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Fanconi Anemia pathway
    Fanconi's Anaemia Pathway0.43
    Regulation of the Fanconi anemia pathway0.42
    Fanconi Anemia pathway0.43
    BARD1 signaling events0.41
    2Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    3p53 signaling pathway
    DNA damage response0.41
    p53 signaling pathway0.41
    4CDK-mediated phosphorylation and removal of Cdc6
    Autodegradation of the E3 ubiquitin ligase COP10.92
    Ubiquitin Mediated Degradation of Phosphorylated Cdc25A0.91
    Stabilization of p530.91
    p53-Independent G1/S DNA damage checkpoint0.91
    p53-Dependent G1 DNA Damage Response0.91
    G1/S DNA Damage Checkpoints0.87
    p53-Dependent G1/S DNA damage checkpoint0.91
    Cell Cycle Checkpoints0.58
    5Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    p53 Mediated Apoptosis0.84
    Cellular Apoptosis Pathway0.85
    Telomerase Components in Cell Signaling0.72

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for ATM
        DNA damage ATM/ATR regulation of G1/S checkpoint
    Cell cycle Role of 14-3-3 proteins in cell cycle regulation
    DNA damage DNA-damage-induced responses
    Transcription P53 signaling pathway
    DNA damage Role of Brca1 and Brca2 in DNA repair

    5/17 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ATM (see all 17)
        Telomerase Components in Cell Signaling
    BRCA1 Pathway
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer
    UVA-Induced MAPK Signaling

    2 Cell Signaling Technology (CST) Pathways for ATM
        Cell Cycle / Checkpoint Control
    DNA Damage

    1 Tocris Bioscience Pathway for ATM
        Apoptosis Pathway

    5 GeneGo (Thomson Reuters) Pathways for ATM
        DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage ATM/ATR regulation of G1/S checkpoint
    Transcription P53 signaling pathway
    DNA damage DNA-damage-induced responses
    Cell cycle Role of 14-3-3 proteins in cell cycle regulation

    5/19 BioSystems Pathways for ATM (see all 19)
        DNA damage response
    Cell cycle
    G1 to S cell cycle control
    DNA damage response (only ATM dependent)
    Homologous recombination

    5/23        Reactome Pathways for ATM (see all 23)
        ATM mediated response to DNA double-strand break
    Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
    DNA Repair
    Recruitment of repair and signaling proteins to double-strand breaks
    Cell Cycle

    1 PharmGKB Pathway for ATM
        Metformin Pathway, Pharmacodynamic

    5/7         Kegg Pathways  (Kegg details for ATM) (see all 7):
        NF-kappa B signaling pathway
    Cell cycle
    p53 signaling pathway
    Apoptosis
    HTLV-I infection


    ATM for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/713 Interacting proteins for ATM (Q133151, 2, 3 ENSP000002786164) via UniProtKB, MINT, STRING, and/or I2D (see all 713)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206481Q146761, 3, ENSP000003730604EBI-495465,EBI-495644 I2D: score=4 STRING: ENSP00000373060
    ENSG00000237095Q146761, 3, ENSP000004091674EBI-495465,EBI-495644 I2D: score=4 STRING: ENSP00000409167
    MDC1Q146761, 3, ENSP000003655884EBI-495465,EBI-495644 I2D: score=4 STRING: ENSP00000365588
    ENSG00000224587Q146761, 3EBI-495465,EBI-495644 I2D: score=4 
    ENSG00000225589Q146761, 3EBI-495465,EBI-495644 I2D: score=4 
    About this table

    Gene Ontology (GO): 5/39 biological process terms (GO ID links to tree view) (see all 39):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000077DNA damage checkpoint ----
    GO:0000723telomere maintenance ----
    GO:0000724double-strand break repair via homologous recombination TAS--
    GO:0001666response to hypoxia IEA--
    GO:0001756somitogenesis IEA--

    ATM for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ATM for compounds           About GeneDecksing

    EMD Millipore small molecules for ATM:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ATM available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KU 55933Potent and selective ATM kinase inhibitor[587871-26-9]
    KU 60019Potent ATM kinase inhibitor[925701-46-8]

    2 HMDB Compounds for ATM    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    10/46 Novoseek inferred chemical compound relationships for ATM gene (see all 46)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 58.6 27 11114307 (1), 17507690 (1), 9442910 (1), 12513844 (1) (see all 24)
    wortmannin 56.5 24 10771089 (3), 15173573 (2), 9808536 (2), 15709017 (1) (see all 14)
    neocarzinostatin 50.7 3 15345673 (1), 9244351 (1), 9050866 (1)
    caffeine 50.2 33 10485486 (4), 16479016 (2), 11864911 (2), 10744722 (2) (see all 19)
    aphidicolin 46.5 5 11279043 (1), 11114888 (1)
    hydroxyurea 43.4 6 11689451 (1), 16293623 (1), 11114888 (1)
    topotecan 35.2 11 18802408 (3), 16426422 (3), 16760673 (2), 16184611 (1)
    camptothecin 32.1 15 20304914 (5), 15699047 (2), 16158199 (1), 10327072 (1)
    mitoxantrone 30.9 10 16760673 (4), 18802408 (3), 16184611 (1), 19411853 (1)
    ly294002 30.4 8 10771089 (3), 18589211 (1), 19038232 (1)

    Search CenterWatch for drugs/clinical trials and news about ATM

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATM gene (3 alternative transcripts): 
    NM_000051.3  NM_138292.3  NM_138293.1  

    Unigene Cluster for ATM:

    Ataxia telangiectasia mutated
    Hs.367437  [show with all ESTs]
    Unigene Representative Sequence: NM_000051
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000527805(uc009yxs.1) ENST00000527891 ENST00000532931 ENST00000530958
    ENST00000452508(uc001pke.2) ENST00000526567(uc001pkc.1) ENST00000601453
    ENST00000525012 ENST00000533526 ENST00000419286 ENST00000533733(uc001pkd.4)
    ENST00000524792 ENST00000531525(uc001pkf.3) ENST00000531957 ENST00000533690(uc009yxt.1 uc001pkg.1)
    ENST00000534625 ENST00000529588 ENST00000532765
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate ATM (see all 15):
    hsa-miR-34c-3p hsa-miR-203 hsa-miR-18a hsa-miR-181c hsa-miR-516b hsa-miR-181a hsa-miR-519c-3p hsa-miR-181d
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ATM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATM
    Clone
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    OriGene clones in human, mouse for ATM (see all 9)
    OriGene ORF clones in mouse, rat for ATM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ATM (NM_000051)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATM
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ATM
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATM

    Additional mRNA sequence: 

    AF035326.1 AF035327.1 AF035328.1 AK093586.1 AK299843.1 BC007023.2 BC022306.1 BC061584.1 
    BC152385.1 BC152389.1 BT006764.1 BX640631.1 CR749436.1 HM437232.1 U33841.1 U67093.1 
    X91196.1 Y08455.1 

    21 DOTS entries:

    DT.102832095  DT.100750015  DT.91916232  DT.91717023  DT.101977439  DT.99971554  DT.121643246  DT.451837 
    DT.100750014  DT.99928041  DT.120760397  DT.65284599  DT.97778369  DT.120760409  DT.120760428  DT.40122485 
    DT.75194025  DT.91664691  DT.97825561  DT.120760412  DT.99957611 

    24/200 AceView cDNA sequences (see all 200):

    U26455 AA149636 BM671057 AA421745 AA962359 BX642224 AI559463 BX096702 
    R26821 NM_138292 BM451149 BM701900 AV705298 AA782580 AK093586 BC007023 
    BX504088 CD721939 BM800438 BQ722775 U33841 AA632114 AA814352 BC061584 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATM expression in normal human tissues (normalized intensities)      ATM embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ATM Expression
    About this image


    ATM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/38 selected tissues (see all 38) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 8 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             cd8+ t cell   
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
             brain/midbrain   
     
     Testis (Reproductive System)    fully expand to see all 5 entries
             Spermatogonial Stem Cells Seminiferous Tubules
             seminal vesicle ; glandular cells   
     
     Uterus (Reproductive System)    fully expand to see all 5 entries
             uterus, post-menopause ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   

    See ATM Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATM

    SOURCE GeneReport for Unigene cluster: Hs.367437

    UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315
    Tissue specificity: Found in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain, heart, spleen,
    thymus, testis, ovary, small intestine, colon and leukocytes

        SABiosciences Expression via Pathway-Focused PCR Arrays including ATM (see all 13): 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              Lymphoma in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat
              Cell Cycle in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ATM
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATM
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATM
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATM
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATM

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATM gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atm1 , 5 ataxia telangiectasia mutated homolog (human)1, 5 85.02(n)1
    84.34(a)1
      9 (29.12 cM)5
    119201  NM_007499.21  NP_031525.21 
     534391495 
    chicken
    (Gallus gallus)
    Aves ATM1 ataxia telangiectasia mutated 72.23(n)
    69.69(a)
      395401  NM_001162400.1  NP_001155872.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    ATM6
    Uncharacterized protein
    85(a)
    60(a)
    many → 1
    many → 1
    5(124955283-124966704)
    GL343319.1(1173-53757)
    African clawed frog
    (Xenopus laevis)
    Amphibia ATM2 ataxia telangiectasia mutated 75.21(n)    AF174488.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.286552 Danio rerio partial mRNA for ataxia telangiectasia more 73.34(n)    AJ605775.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG65353 cell cycle checkpoint protein kinase 27(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea atm-16
    Protein K10E9.1
    16(a)
    1 ↔ 1
    I(183364-208467)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TEL1(YBL088C)4 Protein kinase primarily involved in telomere length more   --   2(59382-51019) 852190  NP_009465.1 
    rice
    (Oryza sativa)
    Liliopsida Os.170832 Oryza sativa (japonica cultivar-group) AtATM like protein more 75(n)    NM_183488.1 


    ENSEMBL Gene Tree for ATM (if available)
    TreeFam Gene Tree for ATM (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATM gene
    2 SIMAP similar genes for ATM using alignment to 16 protein entries:     ATM_HUMAN (see all proteins):
    DKFZp781A0353    MTOR

    ATM for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ATM
    PGOHUM00000233233


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    2595/3368 SNPs in ATM are shown (see all 3368)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0108014
    Ataxia telangiectasia (AT)4--see VAR_0108012 K E mis40--------
    VAR_0108464
    Ataxia telangiectasia (AT)4--see VAR_0108462 R C mis40--------
    VAR_0108794
    Ataxia telangiectasia (AT)4--see VAR_0108792 F C mis40--------
    VAR_0108164
    Ataxia telangiectasia (AT)4--see VAR_0108162 L Q mis40--------
    VAR_0108634
    Ataxia telangiectasia (AT)4--see VAR_0108632 D Q mis40--------
    VAR_0415804
    A lung adenocarcinoma sample4--see VAR_0415802 T A mis40--------
    VAR_0108804
    Ataxia telangiectasia (AT)4--see VAR_0108802 P L mis40--------
    VAR_0108264
    Ataxia telangiectasia (AT)4--see VAR_0108262 L P mis40--------
    VAR_0108904
    Ataxia telangiectasia (AT)4--see VAR_0108902 R G mis40--------
    VAR_0415774
    A colorectal adenocarcinoma sample4--see VAR_0415772 R Q mis40--------
    VAR_0415604
    A gastric adenocarcinoma sample4--see VAR_0415602 S F mis40--------
    VAR_0108034
    Ataxia telangiectasia (AT)4--see VAR_0108032 I V mis40--------
    VAR_0108294
    T-prolymphocytic leukemia4--see VAR_0108292 D H mis40--------
    VAR_0108574
    T-prolymphocytic leukemia4--see VAR_0108572 Q P mis40--------
    VAR_0108544
    Ataxia telangiectasia (AT)4--see VAR_0108542 V G mis40--------
    VAR_0415494
    A colorectal adenocarcinoma sample4--see VAR_0415492 R C mis40--------
    VAR_0108444
    Ataxia telangiectasia (AT)4--see VAR_0108442 S C mis40--------
    VAR_0108314
    Ataxia telangiectasia (AT)4--see VAR_0108312 T I mis40--------
    VAR_0108364
    Ataxia telangiectasia (AT)4--see VAR_0108362 V G mis40--------
    VAR_0108654
    Ataxia telangiectasia (AT)4--see VAR_0108652 L P mis40--------
    VAR_0108434
    T-prolymphocytic leukemia4--see VAR_0108432 E K mis40--------
    VAR_0108054
    B-cell chronic lymphocytic leukemia4--see VAR_0108052 A T mis40--------
    VAR_0108824
    Ataxia telangiectasia (AT)4--see VAR_0108822 R P mis40--------
    VAR_0108484
    B-cell chronic lymphocytic leukemia4--see VAR_0108482 A T mis40--------
    VAR_0108604
    Ataxia telangiectasia (AT)4--see VAR_0108602 W R mis40--------
    VAR_0108134
    Ataxia telangiectasia (AT)4--see VAR_0108132 R C mis40--------
    VAR_0415504
    A colorectal adenocarcinoma sample4--see VAR_0415502 R H mis40--------
    VAR_0108734
    T-prolymphocytic leukemia4--see VAR_0108732 D V mis40--------
    VAR_0108594
    T-prolymphocytic leukemia4--see VAR_0108592 R G mis40--------
    VAR_0108744
    Ataxia telangiectasia (AT)4--see VAR_0108742 A V mis40--------
    VAR_0108864
    Ataxia telangiectasia (AT)4--see VAR_0108862 G R mis40--------
    VAR_0108894
    Ataxia telangiectasia (AT)4--see VAR_0108892 E G mis40--------
    VAR_0415564
    A lung adenocarcinoma sample4--see VAR_0415562 E Q mis40--------
    VAR_0108954
    B-cell chronic lymphocytic leukemia4--see VAR_0108952 K N mis40--------
    VAR_0108814
    Ataxia telangiectasia (AT)4--see VAR_0108812 R C mis40--------
    VAR_0108064
    B-cell chronic lymphocytic leukemia4--see VAR_0108062 I T mis40--------
    VAR_0108714
    T-prolymphocytic leukemia4--see VAR_0108712 L R mis40--------
    VAR_0108934
    Ataxia telangiectasia (AT)4--see VAR_0108932 R C mis40--------
    VAR_0415454
    A colorectal adenocarcinoma sample4--see VAR_0415452 R Q mis40--------
    VAR_0415684
    A breast pleomorphic lobular carcinoma sample4--see VAR_0415682 M I mis40--------
    VAR_0108154
    Ataxia telangiectasia (AT)4--see VAR_0108152 L R mis40--------
    VAR_0108384
    Ataxia telangiectasia (AT)4--see VAR_0108382 D G mis40--------
    VAR_0415534
    A colorectal adenocarcinoma sample4--see VAR_0415532 C Y mis40--------
    VAR_0108694
    T-prolymphocytic leukemia4--see VAR_0108692 G A mis40--------
    VAR_0108784
    Ataxia telangiectasia (AT)4--see VAR_0108782 C Y mis40--------
    VAR_0108724
    T-prolymphocytic leukemia4--see VAR_0108722 D G mis40--------
    VAR_0108684
    Ataxia telangiectasia (AT)4--see VAR_0108682 E G mis40--------
    VAR_0108044
    B-cell chronic lymphocytic leukemia4--see VAR_0108042 Y C mis40--------
    VAR_0108404
    Ataxia telangiectasia (AT)4--see VAR_0108402 A D mis40--------
    VAR_0415824
    A lung adenocarcinoma sample4--see VAR_0415822 P R mis40--------
    VAR_0108194
    Ataxia telangiectasia (AT)4--see VAR_0108192 H L mis40--------
    VAR_0108254
    B-cell non-Hodgkin lymphoma4--see VAR_0108252 F S mis40--------
    VAR_0108624
    Ataxia telangiectasia (AT)4--see VAR_0108622 H D mis40--------
    VAR_0108204
    Ataxia telangiectasia (AT)4--see VAR_0108202 E D mis40--------
    VAR_0415674
    A colorectal adenocarcinoma sample4--see VAR_0415672 N T mis40--------
    VAR_0108354
    T-prolymphocytic leukemia4--see VAR_0108352 L H mis40--------
    VAR_0415644
    A renal papillary cancer sample4--see VAR_0415642 I M mis40--------
    VAR_0415754
    A renal clear cell carcinoma sample4--see VAR_0415752 I F mis40--------
    VAR_0108834
    Ataxia telangiectasia (AT)4--see VAR_0108832 S R mis40--------
    VAR_0108584
    Ataxia telangiectasia (AT)4--see VAR_0108582 Y D mis40--------
    VAR_0108274
    Ataxia telangiectasia (AT)4--see VAR_0108272 P R mis40--------
    VAR_0108374
    B-cell chronic lymphocytic leukemia4--see VAR_0108372 T R mis40--------
    VAR_0108534
    Mantle cell lymphoma4--see VAR_0108532 E G mis40--------
    VAR_0108124
    Ataxia telangiectasia (AT)4--see VAR_0108122 N D mis40--------
    VAR_0108884
    T-prolymphocytic leukemia4--see VAR_0108882 L V mis40--------
    VAR_0108944
    B-cell chronic lymphocytic leukemia4--see VAR_0108942 R H mis40--------
    VAR_0415724
    A renal clear cell carcinoma sample4--see VAR_0415722 E D mis40--------
    VAR_0108754
    T-prolymphocytic leukemia4--see VAR_0108752 F L mis40--------
    VAR_0108524
    B-cell chronic lymphocytic leukemia4--see VAR_0108522 A P mis40--------
    VAR_0108084
    Ataxia telangiectasia (AT)4--see VAR_0108082 F S mis40--------
    VAR_0108394
    Ataxia telangiectasia (AT)4--see VAR_0108392 G E mis40--------
    VAR_0108214
    T-prolymphocytic leukemia4--see VAR_0108212 I T mis40--------
    VAR_0108704
    Ataxia telangiectasia (AT)4--see VAR_0108702 I R mis40--------
    VAR_0108504
    T-prolymphocytic leukemia4--see VAR_0108502 T S mis40--------
    VAR_0108024
    Ataxia telangiectasia (AT)4--see VAR_0108022 P L mis40--------
    VAR_0108924
    T-prolymphocytic leukemia4--see VAR_0108922 A P mis40--------
    VAR_0415694
    A colorectal adenocarcinoma sample4--see VAR_0415692 A T mis40--------
    VAR_0108234
    Ataxia telangiectasia (AT)4--see VAR_0108232 L P mis40--------
    VAR_0108424
    T-prolymphocytic leukemia4--see VAR_0108422 E G mis40--------
    VAR_0415764
    A colorectal adenocarcinoma sample4--see VAR_0415762 S L mis40--------
    rs30928571,2,4
    C,F,HB-cell non-Hodgkin lymphoma4 other1108007477(+) TAAGAA/GTGGCC 2 M V mis126Minor allele frequency- G:0.01NA MN NS EA 7154
    rs18000591,2,4
    C,F,HAtaxia telangiectasia (AT)4 --108034679(+) AACATA/CGTAAA 2 S R mis113Minor allele frequency- C:0.00MN NS EA NA EU 6695
    rs558612491,2
    C,Fpathogenic1107962720(+) TGATTA/C/TGAGAT 2 R * stg12CSA NA 4414
    rs289049211,2
    Cpathogenic1108064093(+) GGAAGG/TAGGTC 2 G V mis10--------
    rs289421031,2
    Cpathogenic1108069878(+) AGAATA/GTGGAA 2 Y C mis1 ese30--------
    rs49879841,2
    C,Funtested1108015886(+) TTTAAA/-TTTCT 1 -- int11Minor allele frequency- -:0.43NS 170
    rs18000541,2,4
    C,Fother1107962763(+) AGATTC/GCAAAC 2 S C mis1 ese310Minor allele frequency- G:0.01MN NA EU 6351
    VAR_0415594
    ----see VAR_0415592 T A mis40--------
    VAR_0108244
    ----see VAR_0108242 K N mis40--------
    VAR_0415834
    ----see VAR_0415832 D N mis40--------
    VAR_0415654
    ----see VAR_0415652 Y C mis40--------
    VAR_0415474
    ----see VAR_0415472 R Q mis40--------
    VAR_0108764
    ----see VAR_0108762 G S mis40--------
    VAR_0415634
    ----see VAR_0415632 P S mis40--------
    VAR_0415704
    ----see VAR_0415702 Y C mis40--------
    VAR_0415794
    ----see VAR_0415792 L R mis40--------
    VAR_0415614
    ----see VAR_0415612 M I mis40--------
    VAR_0415814
    ----see VAR_0415812 R H mis40--------
    VAR_0415784
    ----see VAR_0415782 C R mis40--------
    VAR_0415624
    ----see VAR_0415622 H Y mis40--------
    VAR_0415714
    ----see VAR_0415712 N S mis40--------
    VAR_0415464
    ----see VAR_0415462 D H mis40--------
    VAR_0415584
    ----see VAR_0415582 R W mis40--------
    VAR_0415514
    ----see VAR_0415512 V A mis40--------
    VAR_0415734
    ----see VAR_0415732 L F mis40--------
    rs20667341,2
    C,F--104024084(+) GAAATAA/-GTGTG 1 -- int15Minor allele frequency- -:0.39NA NS CSA 608
    rs122960881,2
    C--104028878(+) TCTCCC/Tttttt 1 -- int1 trp32Minor allele frequency- T:0.33WA CSA 3
    rs1486536171,2
    C--104046490(+) GCTAA-/ATAT  
            
    ATATA
    1 -- int10--------
    rs1398478551,2
    C--104070690(+) TTTTT-/TGTGTGT 1 -- int10--------
    rs32186811,2
    C,F--104077325(+) TTTTT-/A/TAATTT 1 -- int12NA NS 350
    rs30928501,2
    F--104077327(+) TTTAA-/ATTTTT 1 -- int11Minor allele frequency- A:0.48--194
    rs49879861,2
    C,F--104078503(+) gtctcG/Tctctg 1 -- int11Minor allele frequency- T:0.02NS 176
    rs350737081,2
    C--104091021(+) GAGGT-/AAGCAG 1 -- int10--------
    rs6801131,2
    C,F,A,H--104091023(+) AGGTAG/ACAGTG 1 -- int18Minor allele frequency- A:0.45NS NA WA EA 536
    rs5822971,2
    C,F,A,H--104091024(-) TCACTC/GCTACC 1 -- int14Minor allele frequency- G:0.45NS WA NA 174
    rs350841781,2
    C--104092576(+) ATCTTC/-CTATA 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs340214961,2
    C--104095660(+) CTCTCT/-TTTTT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1135737571,2
    C--104113449(+) TATTT-/ATAAAA 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs32123221,2
    C,F--104122337(+) CTTTC-/AT/ATT
            
    ATTAT
    1 -- int14NA NS CSA 532
    rs3714061,2
    C,F,A--104147101(-) CACTCC/TCCTTT 1 -- int1 trp36Minor allele frequency- T:0.46NA WA EA 364
    rs3965521,2
    C,F,A--104147102(-) CCACTG/CTCCTT 1 -- int1 trp36Minor allele frequency- C:0.46NA WA EA 364
    rs1413287111,2
    C--104150415(+) CACAC-/AAACACA 1 -- int10--------
    rs6785261,2
    C,F,A,H--104150416(-) TGTGTG/TTGTGT 1 -- int12Minor allele frequency- T:0.50NA WA 4
    rs1858122171,2
    --107955835(+) CATTGC/TGGGAT 1 -- us2k10--------
    rs1897941081,2
    --107955913(+) TTTGTC/TCATTA 1 -- us2k10--------
    rs1405852611,2
    C--107955959(+) GTGGAC/GAAAGA 1 -- us2k10--------
    rs1810596811,2
    --107956163(+) ATGCTC/GCTAAA 1 -- us2k10--------
    rs1856353741,2
    --107956344(+) CATTAA/CCAAAA 1 -- us2k10--------
    rs1445283141,2
    C--107956353(+) AACATG/TAAACT 1 -- us2k10--------
    rs1465327751,2
    --107956361(+) ACTTGG/TCATTA 1 -- us2k10--------
    rs1412247311,2
    --107956362(+) CTTGTA/CATTAA 1 -- us2k10--------
    rs1450495881,2
    --107956472(+) CTGGGC/TATTTA 1 -- us2k10--------
    rs49878741,2
    C,F,H--107956492(+) CAAGAC/GAAATG 1 -- us2k16Minor allele frequency- G:0.02NS EA NA 708
    rs1388531601,2
    C--107956505(+) TTTTCC/TGAACA 1 -- us2k10--------
    rs1490796381,2
    --107956517(+) TAAAAA/TAATAG 1 -- us2k10--------
    rs1904915861,2
    --107956613(+) TTACTA/GGCTCG 1 -- us2k10--------
    rs1835563771,2
    --107956718(+) CAATAC/TACCCT 1 -- us2k10--------
    rs1890033931,2
    --107956784(+) AGAAAA/GCGTTC 1 -- us2k10--------
    rs1164006441,2
    F--107956797(+) CTAATT/GTAAGG 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs49878751,2
    C,F,H--107956803(+) TAAGGC/TAATTA 1 -- us2k113Minor allele frequency- T:0.03NS EA CSA WA 1180
    rs49878761,2
    C,F,H--107956826(+) TTTTCG/TCTGAT 1 -- us2k132Minor allele frequency- T:0.07NS NA EA WA 3176
    rs49878781,2
    C,F,H--107957191(+) CCCTCG/TGGCTT 1 -- us2k16Minor allele frequency- T:0.02NS EA WA 670
    rs1431488291,2
    C--107957224(+) AGAGAG/TGAGCA 1 -- us2k10--------
    rs49878791,2
    C,F,H--107957266(+) ACCTCC/TGAATG 1 -- us2k17Minor allele frequency- T:0.00NS EA NA 598
    rs1427853621,2
    C--107957282(+) AATCA-/CCCC  
            
    CCGCC
    1 -- us2k10--------
    rs801636661,2
    F--107957350(+) CTTTGG/ACCTCA 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs1412989491,2
    C--107957367(+) CTTCTC/GTCCAG 1 -- us2k10--------
    rs2285891,2
    C,F,O,A,H--107957397(-) CGGGAA/TGGAGG 1 -- us2k134Minor allele frequency- T:0.48EA MN NS NA WA CSA EU 5099
    rs1995799301,2
    C--107957489(+) AACAAG/CACTCA 1 -- us2k11Minor allele frequency- C:0.00EU 1315
    rs767193411,2
    F--107957502(+) TTAAAC/GCAAAC 1 -- us2k10--------
    rs1918552011,2
    C--107957523(+) CTCCTA/GCGCCG 1 -- us2k10--------
    rs1841504291,2
    C--107957527(+) TGCGCC/TGCATC 1 -- us2k10--------
    rs353496291,2
    C--107957578(+) CCCGCC/TTCTTT 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs49878801,2
    C,F,H--107957805(+) TGGACA/TTGGCG 1 -- ut515Minor allele frequency- T:0.00NS EA 596
    rs1890371,2
    C,F--107958022(+) TGGCCA/GCGGGA 1 -- ut51 ese326Minor allele frequency- G:0.47EA NA MN NS CSA WA 2092
    rs18000661,2
    C,F--107958163(+) GACCCA/GGTCTG 1 -- int14Minor allele frequency- G:0.01NA NS MN 728
    rs1470917911,2
    --107958181(+) CCAGA-/CCCGCC 1 -- int10--------
    rs49878811,2
    H--107958372(+) ACGCGA/GCTTGA 1 -- int15Minor allele frequency- G:0.00NS EA 594
    rs30928461,2
    C--107958465(+) TTAAGA/GGCTTG 1 -- int13Minor allele frequency- G:0.01NA 198
    rs49878821,2
    C,F,H--107958466(+) TAAGAG/TCTTGG 1 -- int15Minor allele frequency- T:0.01NS EA NA 348
    rs1873307551,2
    --107958517(+) GTGTGA/GCCGCT 1 -- int10--------
    rs1155218621,2
    F--107958610(+) ACAGAT/AAAGAC 1 -- int11Minor allele frequency- A:0.02WA 118
    rs1379016911,2
    --107958656(+) GAGTAA/CTCTGA 1 -- int10--------
    rs30928471,2
    C,F,H--107958727(+) GGTGAG/AACCTC 1 -- int16Minor allele frequency- A:0.00NS EA 790
    rs49878831,2
    C,F--107958743(+) GTTACC/TTTGGC 1 -- int13Minor allele frequency- T:0.02NS NA 180
    rs1930599941,2
    --107958791(+) TGTAAA/TGGCAC 1 -- int10--------
    rs1471613041,2
    C--107958927(+) TATGAA/GCGGAA 1 -- int10--------
    rs1853037791,2
    --107959085(+) ATCATA/TGAGAA 1 -- int10--------
    rs1175909231,2
    C,F--107959223(+) GCCAAG/AGGCAG 1 -- int11Minor allele frequency- A:0.04NA 120
    rs1902989881,2
    --107959363(+) CTTTTC/TGTTTG 1 -- int10--------
    rs6251201,2
    C,F,O,A,H--107959409(-) CTTCAT/CTTATA 1 -- int117Minor allele frequency- C:0.48NA EA NS WA CSA 1806
    rs30928531,2
    C,F,H--107959418(+) AGTTCA/GTCTTT 1 -- int17Minor allele frequency- G:0.02NS EA CSA WA 790
    rs30928541,2
    H--107959435(+) TGACAC/TTCATA 1 -- int15Minor allele frequency- T:0.00NS EA 612
    rs122709051,2
    H--107959508(+) TTAACA/GTTGTA 1 -- int14Minor allele frequency- G:0.00NS EA 418
    rs30928551,2
    C,H--107959593(+) gttcaG/Catctt 1 -- int15Minor allele frequency- C:0.00NS EA 612
    rs1395355671,2
    --107959642(+) ACAGTG/TTATCT 1 -- int10--------
    rs1496964261,2
    --107959689(+) GTTTTC/TGTTTC 1 -- int10--------
    rs1451236791,2
    C--107959965(+) ACCAT-/GGGGAA 1 -- int10--------
    rs49878841,2
    C,F,H--107960000(+) TCTTCC/TGGGAA 1 -- int15Minor allele frequency- T:0.01NS EA 592
    rs49878851,2
    C,F,H--107960025(+) GTATAT/CTTAGG 1 -- int16Minor allele frequency- C:0.01NS EA WA 704
    rs49878861,2
    C,F,H--107960242(+) CTCAAA/TTAACA 1 -- int16Minor allele frequency- T:0.03NS EA NA 712
    rs756432961,2
    F--107960254(+) TCTGTA/GATCTA 1 -- int11Minor allele frequency- G:0.01WA 118
    rs2285901,2
    C,F,O,A,H--107960330(-) CCTTTT/CATATT 1 -- int1 trp325Minor allele frequency- C:0.46NS NA EA WA CSA 2662
    rs1819832291,2
    --107960420(+) AGTCTC/TGCTCT 1 -- int10--------
    rs49878891,2
    C,F,H--107960474(+) actttC/Tcgcct 1 -- int15Minor allele frequency- T:0.02NS EA 600
    rs1444609041,2
    C--107960476(+) TTTCCA/GCCTCC 1 -- int10--------
    rs1856938611,2
    --107960481(+) GCCTCC/TTGGGT 1 -- int10--------
    rs1466474701,2
    --107960499(+) AGTCTC/GCTACC 1 -- int10--------
    rs1881222601,2
    --107960694(+) GCCCCA/GGTAGT 1 -- int10--------
    rs49878901,2
    C--107960853(+) TGAAAG/TATTAA 1 -- int13Minor allele frequency- T:0.01NS NA 174
    rs49878911,2
    C,F,H--107960890(+) AAGGAC/TTTTCC 1 -- int110Minor allele frequency- T:0.06NS NA 1106
    rs1810206781,2
    --107960951(+) AATATA/GTGTAT 1 -- int10--------
    rs49878921,2
    C,F--107961060(+) TTTTTT/-CTTTT 1 -- int1 trp31Minor allele frequency- -:0.01NS 174
    rs118221401,2
    H--107961079(+) ctttaG/Agttct 1 -- int14Minor allele frequency- A:0.00NS EA 412
    rs1436190541,2
    --107961152(+) ATGATC/TCTGTC 1 -- int10--------
    rs1853830621,2
    --107961194(+) AGCCCG/TTCAAG 1 -- int10--------
    rs1512698591,2
    --107961258(+) CATCTG/TTGTGT 1 -- int10--------
    rs1902418311,2
    --107961412(+) GATACC/TACCAT 1 -- int10--------
    rs1151924121,2
    F--107961477(+) TGTTAT/AGTGTT 1 -- int11Minor allele frequency- A:0.01WA 118
    rs2285911,2
    C,F,O,A,H--107961522(-) CTTTGT/CCTACC 1 -- int134Minor allele frequency- C:0.47NS EA NA WA CSA 3256
    rs1814616331,2
    --107961555(+) TACTTA/CTCAGC 1 -- int10--------
    rs1866453111,2
    --107961556(+) ACTTAC/TCAGCT 1 -- int10--------
    rs49878941,2
    C,F--107961658(+) ttgctC/Atgtca 1 -- int11Minor allele frequency- A:0.01NS 176
    rs49878951,2
    C,F--107961692(+) atctcC/Tgctca 1 -- int11Minor allele frequency- T:0.01NS 176
    rs1385655181,2
    --107961808(+) TAGTTC/TATTGT 1 -- int10--------
    rs171078201,2
    C,F,H--107961862(+) GTTTTC/TTATTC 1 -- int17Minor allele frequency- T:0.01NA NS EA 560
    rs1836668451,2
    --107961889(+) TTTAAA/TTGTCA 1 -- int10--------
    rs792119131,2
    C,F--107961910(+) GTCTCA/GGAGTA 1 -- int11Minor allele frequency- G:0.10EA 120
    rs1865567431,2
    --107961946(+) TCTCCC/TGCCCC 1 -- int10--------
    rs171078231,2
    F--107962211(+) CGTGAG/ACCACT 1 -- int11Minor allele frequency- A:0.08MN 184
    rs1898244861,2
    --107962273(+) AGGCAA/GACATT 1 -- int10--------
    rs3742827941,2
    C--107962287(+) GTGTTA/TCAGCA 1 -- int10--------
    rs49878971,2
    C,F,H--107962331(+) AAATAC/TGGAAA 1 -- int110Minor allele frequency- T:0.03NS EA NA WA 1288
    rs32186931,2
    C,F,H--107962432(+) TATACA/GCATTT 1 -- int117Minor allele frequency- G:0.06NA NS EA WA CSA 1830
    rs1413769741,2
    --107962456(+) TCTCTC/GTATAT 1 -- int10--------
    rs1823821271,2
    --107962458(+) TCTCTA/CTATAT 1 -- int10--------
    rs32187031,2
    C,F--107962462(+) tatatA/Gtgcat 1 -- int12Minor allele frequency- G:0.01NA NS 344
    rs560968341,2
    C--107962467(+) ATGCAC/TATATA 1 -- int10--------
    rs2007444341,2
    --107962507(+) TTTTTA/GCAGAC 1 -- int10--------
    rs71120531,2
    H--107962547(+) TGAGTC/GTAGTA 2 L V mis1 ese34Minor allele frequency- G:0.00NS EA 420
    rs1998537291,2
    --107962603(+) GCTACA/GGAACG 2 T syn10--------
    rs2017730261,2
    C--107962742(+) TAAACA/GTCTAG 2 H R mis10--------
    rs1501439571,2
    C--107962748(+) TCTAGA/GTCGGC 2 D G mis11Minor allele frequency- G:0.00NA 4450
    rs32186841,2,4
    C,F,H--107962750(+) TAGATC/TGGCAT 2 R W mis1 ese314Minor allele frequency- T:0.00NA NS EA 6218
    rs32186901,2
    C,F,H--107962779(+) AAATAT/CTTGAA 2 /Y syn16Minor allele frequency- C:0.00NA NS EU 6249
    rs1434048801,2
    C--107962809(+) TATTCC/TATTCA 1 -- int10--------
    rs1925798431,2
    --107962875(+) ACTTTC/TGTGTG 1 -- int10--------
    rs1833515531,2
    --107962879(+) TTGTGC/TGTAAG 1 -- int10--------
    rs49878981,2
    H--107962923(+) TATGCC/GTTGCA 1 -- int15Minor allele frequency- G:0.00NS EA 580
    rs49878991,2
    C,F,H--107963048(+) AAAATT/AGAGAG 1 -- int15Minor allele frequency- A:0.01NS EA 590
    rs1450844941,2
    C--107963069(+) TCATT-/TTAG  
            
    TTAGT
    1 -- int10--------
    rs49879001,2
    C,F--107963078(+) TAGTTAGTT/-  
            
    CACAA
    1 -- int12Minor allele frequency- -:0.05NS CSA 178
    rs1881817021,2
    --107963108(+) AAATTA/GTAATA 1 -- int10--------
    rs49879011,2
    C,F--107963162(+) TATAAG/CTAAAT 1 -- int11Minor allele frequency- C:0.01NS 178
    rs49879021,2
    C,F,H--107963163(+) ATAAGT/CAAATG 1 -- int19Minor allele frequency- C:0.01NS NA EA 742
    rs49879031,2
    H--107963295(+) GGCAAA/GCAGGG 1 -- int15Minor allele frequency- G:0.00NS EA 572
    rs49879041,2
    C,F,H--107963377(+) GATTAG/AGAAAG 1 -- int15Minor allele frequency- A:0.00NS EA 590
    rs49879051,2
    C,F,H--107963418(+) TTAAAT/CAAACT 1 -- int16Minor allele frequency- C:0.01NS EA WA 704
    rs783268901,2
    C,F--107963547(+) AGCATA/GTAAAA 1 -- int11Minor allele frequency- G:0.02EA 120
    rs798661701,2
    C,F--107963561(+) AACATG/ACATGC 1 -- int11Minor allele frequency- A:0.02NA 120
    rs1912207191,2
    --107963636(+) ATACTA/GTTTTG 1 -- int10--------
    rs49879061,2
    C,F,H--107963706(+) TTCTAG/CGCAGG 1 -- int15Minor allele frequency- C:0.00NS EA 594
    rs1117463371,2
    C,F--107963758(+) CAGGTG/AGATCC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1507470151,2
    --107964050(+) TTTAAA/GTATTC 1 -- int10--------
    rs49879071,2
    C,F,H--107964075(+) ATTGCA/GTTTTG 1 -- int111Minor allele frequency- G:0.08NS EA NA WA 1490
    rs556740391,2
    C--107964085(+) GTTTTC/TTTGAA 1 -- int11Minor allele frequency- T:0.00EU 827
    rs2001518491,2
    --107964181(+) GCAGAA/CAAAGA 2 K T mis10--------
    rs1378824851,2
    C,F--107964201(+) TCAGTA/GGTTTG 2 S G mis12Minor allele frequency- G:0.00NA EU 5777
    rs1423582381,2
    C,F--107964226(+) CAAATG/ATGCAA 2 /Y /C mis11Minor allele frequency- A:0.00NA 4402
    rs1393519821,2
    --107964276(+) TAACAA/GATTAC 1 -- int10--------
    rs563240321,2
    C--107964285(+) ACTGTC/TGCGTG 1 -- int11Minor allele frequency- T:0.50NA 2
    rs1895553521,2
    C--107964286(+) CTGTCA/GCGTGA 1 -- int10--------
    rs2015197431,2
    --107964409(+) AAAGG-/TTTTTT 1 -- int10--------
    rs1811130831,2
    --107964510(+) CACTCA/TGGCCA 1 -- int10--------
    rs1430060191,2
    --107964567(+) CAAGCA/TTAGAA 1 -- int10--------
    rs1181555761,2
    C,F--107964576(+) AATGAC/TAGAAA 1 -- int11Minor allele frequency- T:0.02NA 120
    rs6251841,2
    H--107964685(+) agcttC/Ttctgt 1 -- int16Minor allele frequency- T:0.00NS EA NA 422
    rs6098641,2
    C,F,H--107964921(-) TAGTTA/TAAACA 1 -- int116Minor allele frequency- T:0.01NS EA NA WA CSA 678
    rs1866026481,2
    --107964945(+) GCCCTC/GTCTAC 1 -- int10--------
    rs1899423451,2
    --107964950(+) CTCTAC/TGTCCC 1 -- int10--------
    rs1461465381,2
    --107965048(+) AAACTG/TGCCAG 1 -- int10--------
    rs1401987231,2
    --107965055(+) CCAGGC/TGCAGT 1 -- int10--------
    rs1821688221,2
    --107965099(+) CCAAGA/GCAGGC 1 -- int10--------
    rs1439148571,2
    C--107965128(+) AGATCA/GAGACC 1 -- int10--------
    rs1456824211,2
    --107965135(+) GACCAG/TCCTGA 1 -- int10--------
    rs1863594681,2
    --107965199(+) GTGGCA/GCACGC 1 -- int10--------
    rs1485107991,2
    --107965202(+) GCGCAC/TGCTTG 1 -- int10--------
    rs1911615131,2
    --107965281(+) GCTGAA/GATTAC 1 -- int10--------
    rs1834474041,2
    --107965316(+) CAGAGC/TGAGAC 1 -- int10--------
    rs1852000811,2
    --107965317(+) AGAGCA/GAGACT 1 -- int10--------
    rs1910376241,2
    --107965326(+) CTGTCA/CAAAAA 1 -- int10--------
    rs1828028441,2
    --107965334(+) AAAAGA/GAAAGT 1 -- int10--------
    rs749548661,2
    F--107965349(+) AAAACC/GTGTCT 1 -- int11Minor allele frequency- G:0.02WA 118
    rs1428662851,2
    --107965415(+) AGTGTA/GACATC 1 -- int10--------
    rs1510764141,2
    C--107965575(+) CTCTAC/TTTACA 1 -- int10--------
    rs114021971,2
    C--107965609(+) AAAAA-/GGTGTG 1 -- int10--------
    rs1884570141,2
    --107965610(+) AAAAAG/TTGTGG 1 -- int10--------
    rs6614671,2
    C,F,A--107965679(-) AAGATC/TGCACC 1 -- int19Minor allele frequency- T:0.48NA WA CSA 135
    rs1928622891,2
    --107965737(+) CAGCCA/TCCCAA 1 -- int10--------
    rs1830061821,2
    --107965869(+) CCTTGA/GCCTCC 1 -- int10--------
    rs1874326081,2
    --107965962(+) AAGCAA/GTTCTT 1 -- int10--------
    rs735615731,2
    C,F--107965986(+) TCTGTA/GCTCTT 1 -- int13Minor allele frequency- G:0.07WA 122
    rs747065711,2
    C,F--107966025(+) TCCTTG/CGCTGT 1 -- int11Minor allele frequency- C:0.12WA 118
    rs6416051,2
    C,F,H--107966106(-) ATCAGA/GAGAAA 1 -- int1 trp322Minor allele frequency- T:0.01EA NA NS WA CSA 1952
    rs763005581,2
    C,F--107966249(+) GAAGTG/ATGTGT 1 -- int11Minor allele frequency- A:0.07WA 118
    rs1155794471,2
    C,F--107966337(+) AGGCGC/TGGTTG 1 -- int11Minor allele frequency- T:0.08WA 118
    rs30178741,2
    F,H--107966690(+) TATTAG/TTGAAT 1 -- int15Minor allele frequency- T:0.00NS EA WA 538
    rs1923962831,2
    --107966745(+) TTAGTA/CAATTT 1 -- int10--------
    rs1413135331,2
    --107966971(+) TTGTAC/GCCCAC 1 -- int10--------
    rs1847282651,2
    --107967078(+) AGCCTG/TTTGGT 1 -- int10--------
    rs735615771,2
    C,F--107967154(+) ATTTAC/TGGCTT 1 -- int13Minor allele frequency- T:0.07WA 122
    rs735615781,2
    C,F--107967192(+) CTTAAA/GCCTTT 1 -- int13Minor allele frequency- G:0.07WA 122
    rs1890188391,2
    --107967229(+) TACTAG/TTCCCT 1 -- int10--------
    rs1180529801,2
    C,F--107967242(+) CCCCAC/TTTCAG 1 -- int11Minor allele frequency- T:0.02EA 120
    rs3724462651,2
    C--107967252(+) TTGTT-/TTTG  
            
    TTTGT
    1 -- int10--------
    rs710476851,2
    C--107967443(-) GTCTC-/AAAAAAA 1 -- int11Minor allele frequency- AA:0.00NA 2
    rs65890141,2
    C--107967499(+) gcctaG/Agctgg 1 -- int14Minor allele frequency- A:0.00NA CSA 7
    rs1927927341,2
    --107967616(+) GGCCCA/GGTTAA 1 -- int10--------
    rs1847358741,2
    --107967644(+) GAGACA/GAGGGT 1 -- int10--------
    rs1127098041,2
    C,F--107967761(+) ACCCAG/ACCTAC 1 -- int12Minor allele frequency- A:0.09CSA WA 120
    rs1476195281,2
    --107967788(+) TTTTTA/TTTTTT 1 -- int10--------
    rs1997380281,2
    C--107967800(+) GAGAC-/AGAGTTT 1 -- int10--------
    rs1422416961,2
    C--107967834(+) GTGCAA/GTGGCG 1 -- int10--------
    rs589897811,2
    C,F--107967881(+) CAAGCG/AATTCT 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1383582911,2
    C--107967913(+) ACTGGC/GATTAC 1 -- int10--------
    rs1492548331,2
    C--107967933(+) CCACCA/TTGCCC 1 -- int10--------
    rs1434965091,2
    C--107967941(+) CCCAGA/CTAATT 1 -- int10--------
    rs1899473461,2
    --107967960(+) TTAGTA/GGAGAC 1 -- int10--------
    rs802526721,2
    F--107968125(+) CTTAAA/GTAGAG 1 -- int11Minor allele frequency- G:0.03WA 118
    rs1379507921,2
    --107968434(+) AGCCAC/TGATCA 1 -- int10--------
    rs2009248801,2
    --107968505(+) AAAAA-/TGTCTC 1 -- int10--------
    rs1429404721,2
    --107968629(+) TAGTGA/GTGCTT 1 -- int10--------
    rs1461114641,2
    --107968675(+) GTAGAA/TCCCTT 1 -- int10--------
    rs1401320771,2
    --107968711(+) GAGTCA/GTAATG 1 -- int10--------
    rs2285941,2
    C,F,A--107968713(+) gtcatG/Aatggg 1 -- int111Minor allele frequency- A:0.47NA WA CSA EA 373
    rs1172221911,2
    C,F--107968740(+) TTGGGT/CGACAG 1 -- int11Minor allele frequency- C:0.03EA 120
    rs1422067701,2
    --107968843(+) TATTGA/GGATAA 1 -- int10--------
    rs112125621,2
    F,H--107968885(+) ATTAAT/CTTCTG 1 -- int14Minor allele frequency- C:0.00NS EA 384
    rs1392523101,2
    C--107969004(+) TACAAC/TGGATG 1 -- int10--------
    rs1815392591,2
    --107969171(+) TGTTTA/GCCATA 1 -- int10--------
    rs49879081,2
    C,F--107969272(+) CAATAA/CATATA 1 -- int13Minor allele frequency- C:0.04NS CSA WA 296
    rs1499915581,2
    --107969349(+) AAATGA/GTAATT 1 -- int10--------
    rs49879091,2
    H--107969442(+) TAACAT/CGCTGT 1 -- int15Minor allele frequency- C:0.00NS EA 592
    rs1859577971,2
    --107969477(+) CAAGCA/GCAGTG 1 -- int10--------
    rs49879101,2
    C,F--107969487(+) ggctcA/Gtacct 1 -- int14Minor allele frequency- G:0.04NS WA 298
    rs1452406461,2
    --107969500(+) AGTCTA/CAGCAC 1 -- int10--------
    rs1407831041,2
    --107969548(+) GAGTTC/TAAGAC 1 -- int10--------
    rs790010521,2
    C,F--107969553(+) CAAGAC/TCAGCC 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1476021451,2
    C--107969741(+) TAGAGC/TGAGAC 1 -- int10--------
    rs2285951,2
    C,F,O--107969781(+) GAGGTG/ATTTGT 1 -- int116Minor allele frequency- A:0.30NA NS WA EA 1166
    rs769301041,2
    C,F--107969853(+) TTGTAA/GTCTTA 1 -- int13Minor allele frequency- G:0.21WA CSA 121
    rs1421760891,2
    --107969858(+) ATCTTA/GTGTTA 1 -- int1