{
    "uniprot_canonical_ac": "P0DMS8-1",
    "uniprot_ac": "P0DMS8",
    "uniprot_id": "AA3R_HUMAN",
    "mass": {
        "chemical_mass": 36185.0,
        "monoisotopic_mass": 36185.0
    },
    "refseq": {
        "ac": "NP_000668",
        "name": "adenosine receptor A3 isoform A",
        "summary": "This gene encodes a protein that belongs to the family of adenosine receptors, which are G-protein-coupled receptors that are involved in a variety of intracellular signaling pathways and physiological functions. The receptor encoded by this gene mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. Alternative splicing results in multiple transcript variants. This gene shares its 5' terminal exon with some transcripts from overlapping GeneID:57413, which encodes an immunoglobulin domain-containing protein. [provided by RefSeq, Nov 2014].",
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000668"
    },
    "gene_names": [
        {
            "name": "ADORA3",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "https://www.uniprot.org/uniprot/P0DMS8",
            "id": "P0DMS8"
        },
        {
            "name": "A3AR",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000668",
            "id": "NP_000668"
        },
        {
            "name": "ADORA3",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000668",
            "id": "NP_000668"
        }
    ],
    "protein_names": [
        {
            "name": "Adenosine receptor A3",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "",
            "id": "P0DMS8"
        },
        {
            "name": "adenosine receptor A3 isoform A",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000668",
            "id": "NP_000668"
        }
    ],
    "function": [
        {
            "annotation": "N(6)-methyladenosine (m(6)A) is an endogenous A3 adenosine receptor ligand.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_000668",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000668"
                },
                {
                    "database": "PubMed",
                    "id": "33472058",
                    "url": "https://glygen.org/publication/PubMed/33472058"
                }
            ]
        },
        {
            "annotation": "Receptor for adenosine. The activity of this receptor is mediated by G proteins which inhibits adenylyl cyclase (PubMed:8234299).",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P0DMS8",
                    "url": "https://www.uniprot.org/uniprot/P0DMS8#function"
                },
                {
                    "database": "PubMed",
                    "id": "8234299",
                    "url": "https://glygen.org/publication/PubMed/8234299"
                }
            ]
        },
        {
            "annotation": "Systematic deletion of adenosine receptors reveals novel roles in inflammation and pyroptosis in THP-1 macrophages.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_000668",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000668"
                },
                {
                    "database": "PubMed",
                    "id": "33524770",
                    "url": "https://glygen.org/publication/PubMed/33524770"
                }
            ]
        },
        {
            "annotation": "This gene encodes a protein that belongs to the family of adenosine receptors, which are G-protein-coupled receptors that are involved in a variety of intracellular signaling pathways and physiological functions. The receptor encoded by this gene mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. Alternative splicing results in multiple transcript variants. This gene shares its 5' terminal exon with some transcripts from overlapping GeneID:57413, which encodes an immunoglobulin domain-containing protein. [provided by RefSeq, Nov 2014].",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_000668",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000668"
                }
            ]
        },
        {
            "annotation": "Uncovering the Mechanisms of Adenosine Receptor-Mediated Pain Control: Focus on the A3 Receptor Subtype. Review article Publication Status: Online-Only",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_000668",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000668"
                },
                {
                    "database": "PubMed",
                    "id": "34360719",
                    "url": "https://glygen.org/publication/PubMed/34360719"
                }
            ]
        }
    ],
    "disease": [],
    "snv": [
        {
            "evidence": [
                {
                    "id": "P0DMS8",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0DMS8"
                }
            ],
            "glycoeffect": [],
            "start_pos": 105,
            "end_pos": 105,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "A",
            "sequence_mut": "T",
            "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
            "chr_id": "1",
            "chr_pos": "111503042",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "A105",
            "disease": [
                {
                    "disease_id": "DOID:1324",
                    "recommended_name": {
                        "id": "DOID:1324",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1324",
                        "name": "lung cancer",
                        "description": "A respiratory system cancer that is located_in the lung."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "LNCR1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "LNCR3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "adenocarcinoma of lung, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "LNCR4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "LNCR5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": "A malignant neoplasm involving the lung."
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "cancer of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "Nonsmall cell lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "alveolar cell carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MIM:211980",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/211980",
                            "name": "Lung cancer",
                            "description": "Lung cancer"
                        }
                    ]
                },
                {
                    "disease_id": "DOID:10534",
                    "recommended_name": {
                        "id": "DOID:10534",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:10534",
                        "name": "stomach cancer",
                        "description": "A gastrointestinal system cancer that is located_in the stomach."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the stomach."
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca lesser curvature - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "cancer of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer risk after h. pylori infection",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant stomach neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "stomach cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca body - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "ca greater curvature of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, intestinal",
                            "description": ""
                        },
                        {
                            "id": "MIM:613659",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/613659",
                            "name": "Gastric cancer",
                            "description": "Gastric cancer"
                        }
                    ]
                },
                {
                    "disease_id": "DOID:1319",
                    "recommended_name": {
                        "id": "DOID:1319",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1319",
                        "name": "brain cancer",
                        "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "BT - Brain tumour",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "adult brain tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "adult malignant brain neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "brain neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "brain neoplasm, adult",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant brain tumour",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant primary brain neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant primary brain tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant tumor of Brain",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant tumor of adult brain",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "neoplasm of brain",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "primary brain neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "primary brain tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "primary malignant neoplasm of brain",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "tumor of the Brain",
                            "description": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "P0DMS8",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0DMS8"
                }
            ],
            "glycoeffect": [],
            "start_pos": 111,
            "end_pos": 111,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "R",
            "sequence_mut": "W",
            "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
            "chr_id": "1",
            "chr_pos": "111503024",
            "ref_nt": "G",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "R111",
            "disease": [
                {
                    "disease_id": "DOID:1612",
                    "recommended_name": {
                        "id": "DOID:1612",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1612",
                        "name": "breast cancer",
                        "description": "A thoracic cancer that originates in the mammary gland."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "breast tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "malignant neoplasm of breast",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "malignant tumor of the breast",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "mammary cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "mammary tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "primary breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast carcinoma",
                            "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, lobular, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial breast carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial cancer of breast",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial cancer of the breast",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, familial Male",
                            "description": ""
                        },
                        {
                            "id": "MIM:114480",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/114480",
                            "name": "Breast cancer",
                            "description": "Breast cancer"
                        }
                    ]
                },
                {
                    "disease_id": "DOID:1781",
                    "recommended_name": {
                        "id": "DOID:1781",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1781",
                        "name": "thyroid cancer",
                        "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "thyroid gland cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "Thyroid gland neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "malignant neoplasm of thyroid gland",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "malignant tumour of thyroid gland",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "neoplasm of thyroid gland",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "thyroid neoplasm",
                            "description": ""
                        }
                    ]
                },
                {
                    "disease_id": "DOID:9256",
                    "recommended_name": {
                        "id": "DOID:9256",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:9256",
                        "name": "colorectal cancer",
                        "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, advanced, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer with chromosomal instability, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectum cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectum neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "CRC",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "large intestine cancer",
                            "description": ""
                        },
                        {
                            "id": "MIM:114500",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/114500",
                            "name": "Colorectal cancer",
                            "description": "Colorectal cancer"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1329283187",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1329283187"
                },
                {
                    "id": "rs1329283187",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1329283187"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 12,
            "end_pos": 12,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->SVT).",
            "chr_id": "1",
            "chr_pos": "111503320",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N12",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1423573393",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1423573393"
                },
                {
                    "id": "rs1423573393",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1423573393#frequency_tab"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 14,
            "end_pos": 14,
            "sequence_org": "T",
            "sequence_mut": "A",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVA).",
            "chr_id": "1",
            "chr_pos": "111503315",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T14",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "P0DMS8",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0DMS8"
                }
            ],
            "glycoeffect": [],
            "start_pos": 195,
            "end_pos": 195,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "A",
            "sequence_mut": "T",
            "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
            "chr_id": "1",
            "chr_pos": "111500324",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "A195",
            "disease": [
                {
                    "disease_id": "DOID:1324",
                    "recommended_name": {
                        "id": "DOID:1324",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1324",
                        "name": "lung cancer",
                        "description": "A respiratory system cancer that is located_in the lung."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "LNCR1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "LNCR3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "adenocarcinoma of lung, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "LNCR4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "LNCR5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": "A malignant neoplasm involving the lung."
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "cancer of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "Nonsmall cell lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "alveolar cell carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MIM:211980",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/211980",
                            "name": "Lung cancer",
                            "description": "Lung cancer"
                        }
                    ]
                },
                {
                    "disease_id": "DOID:10534",
                    "recommended_name": {
                        "id": "DOID:10534",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:10534",
                        "name": "stomach cancer",
                        "description": "A gastrointestinal system cancer that is located_in the stomach."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the stomach."
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca lesser curvature - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "cancer of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer risk after h. pylori infection",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant stomach neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "stomach cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca body - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "ca greater curvature of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, intestinal",
                            "description": ""
                        },
                        {
                            "id": "MIM:613659",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/613659",
                            "name": "Gastric cancer",
                            "description": "Gastric cancer"
                        }
                    ]
                },
                {
                    "disease_id": "DOID:1793",
                    "recommended_name": {
                        "id": "DOID:1793",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1793",
                        "name": "pancreatic cancer",
                        "description": "An endocrine gland cancer located_in the pancreas."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1793",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1793",
                            "name": "Ca body of pancreas",
                            "description": ""
                        },
                        {
                            "id": "DOID:1793",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1793",
                            "name": "Ca head of pancreas",
                            "description": ""
                        },
                        {
                            "id": "DOID:1793",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1793",
                            "name": "Ca tail of pancreas",
                            "description": ""
                        },
                        {
                            "id": "DOID:1793",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1793",
                            "name": "malignant neoplasm of body of pancreas",
                            "description": ""
                        },
                        {
                            "id": "DOID:1793",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1793",
                            "name": "malignant neoplasm of head of pancreas",
                            "description": ""
                        },
                        {
                            "id": "DOID:1793",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1793",
                            "name": "malignant neoplasm of tail of pancreas",
                            "description": ""
                        },
                        {
                            "id": "DOID:1793",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1793",
                            "name": "pancreas neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1793",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1793",
                            "name": "pancreatic neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1793",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1793",
                            "name": "pancreatic tumor",
                            "description": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "P0DMS8",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0DMS8"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 290,
            "end_pos": 290,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "K",
            "sequence_mut": "N",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KET->NET).",
            "chr_id": "1",
            "chr_pos": "111500037",
            "ref_nt": "C",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "K290",
            "disease": [
                {
                    "disease_id": "DOID:4159",
                    "recommended_name": {
                        "id": "DOID:4159",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:4159",
                        "name": "skin cancer",
                        "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "CA - skin cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "malignant neoplasm of skin",
                            "description": ""
                        },
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "melanoma and Non-melanoma skin cancer",
                            "description": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1274221529",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1274221529"
                },
                {
                    "id": "rs1274221529",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1274221529#frequency_tab"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 310,
            "end_pos": 310,
            "sequence_org": "D",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DTS->NTS).",
            "chr_id": "1",
            "chr_pos": "111499979",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "D310",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs771971217",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771971217"
                },
                {
                    "id": "rs771971217",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771971217"
                },
                {
                    "id": "rs771971217",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs771971217"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 315,
            "end_pos": 315,
            "sequence_org": "K",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KNS->NNS).",
            "chr_id": "1",
            "chr_pos": "111499962",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "K315",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1261219016",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1261219016"
                },
                {
                    "id": "rs1261219016",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1261219016#frequency_tab"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 3,
            "end_pos": 3,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->SNS).",
            "chr_id": "1",
            "chr_pos": "111503347",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N3",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs757606015",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757606015"
                },
                {
                    "id": "rs757606015",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757606015"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 45,
            "end_pos": 45,
            "sequence_org": "T",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TTT->NTT).",
            "chr_id": "1",
            "chr_pos": "111503221",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T45",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs753948575",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753948575"
                },
                {
                    "id": "rs753948575",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753948575"
                },
                {
                    "id": "rs753948575",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs753948575#frequency_tab"
                },
                {
                    "id": "rs753948575",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs753948575"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 5,
            "end_pos": 5,
            "sequence_org": "S",
            "sequence_mut": "C",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->NNC).",
            "chr_id": "1",
            "chr_pos": "111503342",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "S5",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs766495105",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766495105"
                },
                {
                    "id": "rs766495105",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766495105"
                },
                {
                    "id": "rs766495105",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs766495105#frequency_tab"
                },
                {
                    "id": "rs766495105",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs766495105"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 5,
            "end_pos": 5,
            "sequence_org": "S",
            "sequence_mut": "R",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->NNR).",
            "chr_id": "1",
            "chr_pos": "111503340",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "S5",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1457560490",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457560490"
                },
                {
                    "id": "rs1457560490",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1457560490#frequency_tab"
                },
                {
                    "id": "rs1457560490",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457560490"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 6,
            "end_pos": 6,
            "sequence_org": "T",
            "sequence_mut": "A",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSA).",
            "chr_id": "1",
            "chr_pos": "111503339",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T6",
            "keywords": [
                "ebi",
                "germline"
            ]
        }
    ],
    "mutagenesis": [],
    "expression_tissue": [
        {
            "tissue": {
                "name": "Adult mammalian kidney",
                "namespace": "UBERON",
                "id": "0000082",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000082"
            },
            "score": "61.81",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000282608",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282608"
                }
            ]
        },
        {
            "tissue": {
                "name": "Oral cavity",
                "namespace": "UBERON",
                "id": "0000167",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000167"
            },
            "score": "42.02",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000282608",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282608"
                }
            ]
        },
        {
            "tissue": {
                "name": "Stomach",
                "namespace": "UBERON",
                "id": "0000945",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000945"
            },
            "score": "68.85",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000282608",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282608"
                }
            ]
        },
        {
            "tissue": {
                "name": "Uterus",
                "namespace": "UBERON",
                "id": "0000995",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000995"
            },
            "score": "49.96",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000282608",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282608"
                }
            ]
        },
        {
            "tissue": {
                "name": "Esophagus",
                "namespace": "UBERON",
                "id": "0001043",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001043"
            },
            "score": "86.49",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000282608",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282608"
                }
            ]
        },
        {
            "tissue": {
                "name": "Rectum",
                "namespace": "UBERON",
                "id": "0001052",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001052"
            },
            "score": "78.29",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000282608",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282608"
                }
            ]
        },
        {
            "tissue": {
                "name": "Colon",
                "namespace": "UBERON",
                "id": "0001155",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001155"
            },
            "score": "56.49",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000282608",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282608"
                }
            ]
        },
        {
            "tissue": {
                "name": "Urinary bladder",
                "namespace": "UBERON",
                "id": "0001255",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001255"
            },
            "score": "75.07",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000282608",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282608"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thyroid gland",
                "namespace": "UBERON",
                "id": "0002046",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002046"
            },
            "score": "58.82",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000282608",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282608"
                }
            ]
        },
        {
            "tissue": {
                "name": "Lung",
                "namespace": "UBERON",
                "id": "0002048",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002048"
            },
            "score": "56.42",
            "present": "MEDIUM",
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            ]
        },
        {
            "tissue": {
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                "url": "http://purl.obolibrary.org/obo/UBERON_0002107"
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            "score": "64.13",
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                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282608"
                }
            ]
        },
        {
            "tissue": {
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                "namespace": "UBERON",
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                "url": "http://purl.obolibrary.org/obo/UBERON_0002367"
            },
            "score": "69.36",
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                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000282608"
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            ]
        },
        {
            "tissue": {
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                "url": "http://purl.obolibrary.org/obo/UBERON_0005200"
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                }
            ]
        }
    ],
    "expression_disease": [],
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            "name": "Homo sapiens",
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                    "database": "UniProtKB",
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                    "url": "https://www.uniprot.org/uniprot/P0DMS8"
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            ],
            "common_name": "Human"
        }
    ],
    "gene": [
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                "strand": "-",
                "evidence": [
                    {
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                ]
            }
        }
    ],
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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            "categories": [
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        },
        {
            "id": "268",
            "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=268",
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            "categories": [
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        },
        {
            "id": "IPR000276",
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        },
        {
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        },
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            "categories": [
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        },
        {
            "id": "IPR017452",
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            "categories": [
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        },
        {
            "id": "hsa:140",
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:140",
            "database": "KEGG Pathway",
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        },
        {
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            "url": "http://www.omim.org/entry/600445",
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            "categories": [
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            ]
        },
        {
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            "url": "https://www.nextprot.org/entry/NX_P0DMS8",
            "database": "neXtProt",
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                "Organism-specific"
            ]
        },
        {
            "id": "FYIIRTK",
            "url": "https://omabrowser.org/oma/group/FYIIRTK/",
            "database": "OMA",
            "categories": [
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            ]
        },
        {
            "id": "2909020at2759",
            "url": "http://www.orthodb.org/?query=2909020at2759",
            "database": "OrthoDB",
            "categories": [
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            ]
        },
        {
            "id": "PTHR24246",
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24246",
            "database": "PANTHER",
            "categories": [
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        },
        {
            "id": "PTHR24246:SF2",
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24246:SF2",
            "database": "PANTHER",
            "categories": [
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            ]
        },
        {
            "id": "PTHR24247",
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24247",
            "database": "PANTHER",
            "categories": [
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            ]
        },
        {
            "id": "PTHR24247:SF264",
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24247:SF264",
            "database": "PANTHER",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PF00001",
            "url": "http://pfam.xfam.org/family/PF00001",
            "database": "Pfam",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "P0DMS8",
            "url": "https://pharos.nih.gov/targets/P0DMS8",
            "database": "PHAROS",
            "categories": [
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            ]
        },
        {
            "id": "PR_P0DMS8",
            "url": "http://purl.obolibrary.org/obo/PR_P0DMS8",
            "database": "PRO",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "R-HSA-417973",
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-417973",
            "database": "Reactome",
            "categories": [
                "Protein Classification"
            ]
        },
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                "sequence": "MKANNTTTSALWLQITYITMEAAIGLCAVVGNMLVIWVVKLNRTLRTTTFYFIVSLALADIAVGVLVIPLAIAVSLEVQMHFYACLFMSCVLLVFTHASIMSLLAIAVDRYLRVKLTVRYRTVTTQRRIWLFLGLCWLVSFLVGLTPMFGWNRKVTLELSQNSSTLSCHFRSVVGLDYMVFFSFITWILIPLVVMCIIYLDIFYIIRNKLSQNLTGFRETRAFYGREFKTAKSLFLVLFLFALCWLPLSIINFVSYFNVKIPEIAMCLGILLSHANSMMNPIVYACKIKKFKETYFVILRACRLCQTSDSLDSNLEQTTE",
                "length": 320
            },
            "evidence": [
                {
                    "id": "45932324",
                    "url": "http://www.informatics.jax.org/homology/45932324",
                    "database": "MGI"
                }
            ],
            "common_name": "Rat"
        },
        {
            "uniprot_canonical_ac": "Q61618-1",
            "protein_name": "Adenosine receptor A3",
            "gene_name": "Adora3",
            "tax_id": 10090,
            "organism": "Mus musculus",
            "sequence": {
                "sequence": "MEADNTTETDWLNITYITMEAAIGLCAVVGNMLVIWVVKLNPTLRTTTVYFIVSLALADIAVGVLVIPLAIAVSLQVKMHFYACLFMSCVLLIFTHASIMSLLAIAVHRYLRVKLTVRYRTVTTQRRIWLFLGLCWLVSFLVGLTPMFGWNRKATLASSQNSSTLLCHFRSVVSLDYMVFFSFITWILVPLVVMCIIYLDIFYIIRNKLSQNLTGFRETRAFYGREFKTAKSLFLVLFLFALCWLPLSIINFVSYFDVKIPDVAMCLGILLSHANSMMNPIVYACKIKKFKETYFLILRAVRLCQTSDSLDSNMEQTTE",
                "length": 319
            },
            "evidence": [
                {
                    "id": "45932324",
                    "url": "http://www.informatics.jax.org/homology/45932324",
                    "database": "MGI"
                }
            ],
            "common_name": "Mouse"
        }
    ],
    "go_annotation": {
        "categories": [
            {
                "name": "Molecular Function",
                "total": 2,
                "go_terms": [
                    {
                        "name": "G protein-coupled receptor activity",
                        "id": "GO:0004930",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "G protein-coupled adenosine receptor activity",
                        "id": "GO:0001609",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001609",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            },
            {
                "name": "Cellular Component",
                "total": 6,
                "go_terms": [
                    {
                        "name": "membrane",
                        "id": "GO:0016020",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "plasma membrane",
                        "id": "GO:0005886",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "dendrite",
                        "id": "GO:0030425",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "synapse",
                        "id": "GO:0045202",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "presynaptic membrane",
                        "id": "GO:0042734",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "Schaffer collateral - CA1 synapse",
                        "id": "GO:0098685",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            },
            {
                "name": "Biological Process",
                "total": 11,
                "go_terms": [
                    {
                        "name": "inflammatory response",
                        "id": "GO:0006954",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "signal transduction",
                        "id": "GO:0007165",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "activation of adenylate cyclase activity",
                        "id": "GO:0007190",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007190",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "negative regulation of cell population proliferation",
                        "id": "GO:0008285",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "regulation of norepinephrine secretion",
                        "id": "GO:0014061",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014061",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "negative regulation of cell migration",
                        "id": "GO:0030336",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "regulation of heart contraction",
                        "id": "GO:0008016",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "response to wounding",
                        "id": "GO:0009611",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "negative regulation of NF-kappaB transcription factor activity",
                        "id": "GO:0032088",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032088",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "G protein-coupled adenosine receptor signaling pathway",
                        "id": "GO:0001973",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001973",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "presynaptic modulation of chemical synaptic transmission",
                        "id": "GO:0099171",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099171",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P0DMS8",
                                "url": "https://www.uniprot.org/uniprot/P0DMS8"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            }
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    "ptm_annotation": [],
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    "cluster_types": [
        {
            "name": "isoformset.uniprotkb",
            "label": "Isoforms"
        },
        {
            "name": "homologset.mgi",
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        }
    ],
    "sequence_features": {
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        "o_linked_sites": [],
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            },
            {
                "start_pos": 4,
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        ]
    },
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                },
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}
