{
    "id": "A4D263-1.2.2",
    "start_pos": 2,
    "end_pos": 2,
    "up_seq": "M",
    "site_seq": "D",
    "down_seq": "VEIQDTPGKISISKRSILSG",
    "uniprot_canonical_ac": "A4D263-1",
    "species": [
        {
            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "A4D263",
                    "url": "https://www.uniprot.org/uniprot/A4D263"
                }
            ],
            "common_name": "Human"
        }
    ],
    "snv": [
        {
            "evidence": [
                {
                    "id": "A4D263",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D263"
                }
            ],
            "glycoeffect": [],
            "subjects_tested": "93",
            "subjects_positive": "1",
            "frequency": "1.1",
            "sequence_org": "D",
            "sequence_mut": "E",
            "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%). In dbSNP: rs1437474507.",
            "chr_id": "7",
            "chr_pos": "50135687",
            "ref_nt": "T",
            "alt_nt": "G",
            "minor_allelic_frequency": "",
            "disease": [
                {
                    "disease_id": "DOID:2394",
                    "recommended_name": {
                        "id": "DOID:2394",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:2394",
                        "name": "ovarian cancer",
                        "description": "A female reproductive organ cancer that is located_in the ovary."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "malignant Ovarian tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "malignant tumour of ovary",
                            "description": ""
                        },
                        {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "ovarian neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "ovary neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "primary ovarian cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "tumor of the Ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011931",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                            "name": "OVCAS1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011931",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                            "name": "OVCAS1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011931",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                            "name": "ovarian cancer, susceptibility to, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011931",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                            "name": "ovarian cancer, susceptibility to, 1; OVCAS1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "ovarian cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "malignant neoplasm of the ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "primary ovarian cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "ovarian cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "ovary neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "ovarian cancer, NOS",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "ovarian malignant tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "malignant tumour of ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "malignant tumor of the ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "cancer of ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "malignant ovarian neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "ovarian cancer, epithelial",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "malignant tumor of ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "cancer of the ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "ovary cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "malignant ovarian tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "ovarian neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "tumor of the ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "malignant neoplasm of ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "malignant ovary neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MIM:167000",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/167000",
                            "name": "Ovarian cancer",
                            "description": "Ovarian cancer"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        }
    ],
    "all_sites": [
        {
            "type": "snv",
            "site_list": [
                {
                    "start_pos": "12",
                    "end_pos": "12"
                },
                {
                    "start_pos": "196",
                    "end_pos": "196"
                },
                {
                    "start_pos": "234",
                    "end_pos": "234"
                },
                {
                    "start_pos": "23",
                    "end_pos": "23"
                },
                {
                    "start_pos": "268",
                    "end_pos": "268"
                },
                {
                    "start_pos": "286",
                    "end_pos": "286"
                },
                {
                    "start_pos": "2",
                    "end_pos": "2"
                },
                {
                    "start_pos": "358",
                    "end_pos": "358"
                },
                {
                    "start_pos": "48",
                    "end_pos": "48"
                }
            ]
        }
    ],
    "categories": [
        "snv_flag"
    ],
    "glycosylation": [],
    "mutagenesis": [],
    "phosphorylation": [],
    "glycation": [],
    "neighbors": [
        {
            "distance": 10,
            "direction": "upstream",
            "id": "A4D263-1.12.12",
            "categories": [
                "snv_flag"
            ]
        }
    ]
}