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                                "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": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs751263307",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751263307"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 982,
                "end_pos": 982,
                "sequence_org": "S",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "3",
                "chr_pos": "165023723AG",
                "ref_nt": "]",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S982",
                "disease": [
                    {
                        "disease_id": "DOID:0111633",
                        "recommended_name": {
                            "id": "DOID:0111633",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111633",
                            "name": "congenital sucrase-isomaltase deficiency",
                            "description": "A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111633",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111633",
                                "name": "CSID",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111633",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111633",
                                "name": "SI deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111633",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111633",
                                "name": "congenital sucrase-isomaltose malabsorption",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111633",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111633",
                                "name": "congenital sucrose intolerance",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111633",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111633",
                                "name": "disaccharide intolerance",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "congenital sucrase-isomaltase deficiency",
                                "description": "A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose."
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "CSID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "congenital sucrase-isomaltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "congenital sucrose intolerance",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "disaccharide intolerance",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "genetic sucrase-isomaltose malabsorption",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "sucrase-isomaltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "congenital sucrose-isomaltase malabsorption",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "disaccharide intolerance, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "sucrase-isomaltase deficiency, congenital",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "sucrose intolerance congenital",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "sucrose isomaltose enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "sucrose-isomaltase malabsorption, congenital",
                                "description": ""
                            },
                            {
                                "id": "MIM:222900",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/222900",
                                "name": "Congenital sucrase-isomaltase deficiency",
                                "description": "Congenital sucrase-isomaltase deficiency"
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                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0111633",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111633"
                            },
                            {
                                "id": "0111633",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111633"
                            }
                        ]
                    }
                ],
                "keywords": [
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                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P14410",
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                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P14410"
                    }
                ],
                "glycoeffect": [
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                "end_pos": 983,
                "subjects_tested": "719",
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                "sequence_org": "Y",
                "sequence_mut": "F",
                "comment": "Somatic mutation passed 0 out of 6 filters: .",
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                "minor_allelic_frequency": "",
                "site_lbl": "Y983",
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                    {
                        "disease_id": "DOID:11934",
                        "recommended_name": {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:11934",
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                            "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "head and neck neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "head and neck tumours",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "head/neck neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "tumor of head and neck",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
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                        ],
                        "evidence": [
                            {
                                "id": "11934",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:11934"
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                        ]
                    },
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1324",
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                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "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: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: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": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
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                        ],
                        "evidence": [
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                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    }
                ],
                "keywords": [
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                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P14410",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P14410"
                    },
                    {
                        "id": "",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
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                ],
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                "frequency": "0.0",
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                "sequence_mut": "L",
                "comment": "Somatic mutation passed 0 out of 6 filters: .",
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                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "S984",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "https://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": "https://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3149",
                            "DOID:3451"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
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                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1207367603",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1207367603"
                    },
                    {
                        "id": "rs1207367603",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1207367603#frequency_tab"
                    },
                    {
                        "id": "rs1207367603",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1207367603"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 986,
                "end_pos": 986,
                "sequence_org": "N",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "3",
                "chr_pos": "165023712",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N986",
                "keywords": [
                    "ebi",
                    "germline"
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            },
            {
                "evidence": [
                    {
                        "id": "rs1207367603",
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                    {
                        "id": "rs1207367603",
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                    },
                    {
                        "id": "rs1207367603",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1207367603"
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                ],
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                "sequence_org": "N",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
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                "chr_pos": "165023712",
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                "alt_nt": "null",
                "minor_allelic_frequency": "",
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                    "ebi",
                    "germline"
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            },
            {
                "evidence": [
                    {
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                    {
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                ],
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                "sequence_org": "S",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "3",
                "chr_pos": "165023709",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S987",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs749906809",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749906809"
                    },
                    {
                        "id": "rs749906809",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749906809"
                    },
                    {
                        "id": "rs749906809",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs749906809"
                    }
                ],
                "glycoeffect": [],
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                "sequence_org": "A",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "3",
                "chr_pos": "165023706",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A988",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P14410",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P14410"
                    },
                    {
                        "id": "rs764857009",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764857009"
                    },
                    {
                        "id": "rs764857009",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764857009"
                    },
                    {
                        "id": "rs764857009",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs764857009"
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                ],
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                "end_pos": 989,
                "subjects_tested": "2053",
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                "frequency": "0.2",
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                "sequence_mut": "C",
                "comment": "Somatic mutation passed 0 out of 6 filters: .",
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                "chr_pos": "165023704",
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                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4159",
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                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
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                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
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                                "description": ""
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                        ],
                        "unlinked_id_list": [
                            "DOID:3149",
                            "DOID:3451"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
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                        ]
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                ],
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                    "cancer",
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                    "ebi",
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            },
            {
                "evidence": [
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                        "database": "BioMuta",
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                ],
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1324",
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                            "description": "A respiratory system cancer that is located_in the lung."
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                        "synonyms": [
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "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",
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                                "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",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "description": ""
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
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                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009114",
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                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009114",
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                            {
                                "id": "MONDO:0009114",
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                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "sucrose isomaltose enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
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                                "description": ""
                            },
                            {
                                "id": "MIM:222900",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/222900",
                                "name": "Congenital sucrase-isomaltase deficiency",
                                "description": "Congenital sucrase-isomaltase deficiency"
                            }
                        ],
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                            {
                                "id": "0111633",
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                                "url": "https://www.alliancegenome.org/disease/DOID:0111633"
                            },
                            {
                                "id": "0111633",
                                "database": "AGR",
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                        ]
                    }
                ],
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            },
            {
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                    }
                ],
                "glycoeffect": [],
                "start_pos": 989,
                "end_pos": 989,
                "subjects_tested": "4799",
                "subjects_positive": "3",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "L",
                "comment": "Somatic mutation passed 0 out of 6 filters: .",
                "chr_id": "3",
                "chr_pos": "165023703",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R989",
                "disease": [
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1324",
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                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "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: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: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": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P14410",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P14410"
                    },
                    {
                        "id": "rs1226460493",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226460493"
                    },
                    {
                        "id": "rs1226460493",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1226460493"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 98,
                "end_pos": 98,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "W",
                "sequence_mut": "*",
                "comment": "Somatic mutation passed 0 out of 6 filters: .",
                "chr_id": "3",
                "chr_pos": "165069157",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "W98",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "https://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": "https://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3149",
                            "DOID:3451"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1576921934",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1576921934"
                    },
                    {
                        "id": "rs1576921934",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1576921934"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 98,
                "end_pos": 98,
                "sequence_org": "W",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "3",
                "chr_pos": "165069159",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W98",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1364922864",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1364922864"
                    },
                    {
                        "id": "rs1364922864",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1364922864"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 990,
                "end_pos": 990,
                "sequence_org": "Y",
                "sequence_mut": "C",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "3",
                "chr_pos": "165023700",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y990",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P14410",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P14410"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 991,
                "end_pos": 991,
                "subjects_tested": "719",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "S",
                "sequence_mut": "*",
                "comment": "Somatic mutation passed 0 out of 6 filters: .",
                "chr_id": "3",
                "chr_pos": "165023697",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "S991",
                "disease": [
                    {
                        "disease_id": "DOID:11934",
                        "recommended_name": {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck cancer",
                            "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "head and neck neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "head and neck tumours",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "head/neck neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "tumor of head and neck",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:1542"
                        ],
                        "evidence": [
                            {
                                "id": "11934",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:11934"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P14410",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P14410"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 992,
                "end_pos": 992,
                "subjects_tested": "2670",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "S",
                "sequence_mut": "F",
                "comment": "Somatic mutation passed 0 out of 6 filters: .",
                "chr_id": "3",
                "chr_pos": "165023694",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "S992",
                "disease": [
                    {
                        "disease_id": "DOID:1319",
                        "recommended_name": {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "https://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": "https://disease-ontology.org/term/DOID:1319",
                                "name": "BT - Brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "adult brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "adult malignant brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm, adult",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of Brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of adult brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary malignant neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "tumor of the Brain",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4203",
                            "DOID:3541",
                            "DOID:4706",
                            "DOID:1659",
                            "DOID:368"
                        ],
                        "evidence": [
                            {
                                "id": "1319",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1319"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:363",
                        "recommended_name": {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:363",
                            "name": "uterine cancer",
                            "description": "A female reproductive organ cancer that is located_in the uterus."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "CA - cancer of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "Tumour of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
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                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
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                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterus neoplasm",
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                                "database": "AGR",
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
                                "id": "MONDO:0008903",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0008903",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012159",
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                            {
                                "id": "MONDO:0012159",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                                "id": "MONDO:0012942",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001056",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            },
                            {
                                "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: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": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P14410",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P14410"
                    },
                    {
                        "id": "rs766550125",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766550125"
                    },
                    {
                        "id": "rs766550125",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766550125"
                    },
                    {
                        "id": "rs766550125",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs766550125"
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                ],
                "glycoeffect": [],
                "start_pos": 995,
                "end_pos": 995,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "I",
                "sequence_mut": "M",
                "comment": "Somatic mutation passed 0 out of 6 filters: .",
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                "chr_pos": "165023684",
                "ref_nt": "T",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "I995",
                "disease": [
                    {
                        "disease_id": "DOID:363",
                        "recommended_name": {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:363",
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                            "description": "A female reproductive organ cancer that is located_in the uterus."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "CA - cancer of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "Tumour of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "malignant neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "malignant uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterus neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:9460",
                            "DOID:5166",
                            "DOID:2021",
                            "DOID:4114"
                        ],
                        "evidence": [
                            {
                                "id": "363",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:363"
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                        ]
                    },
                    {
                        "disease_id": "DOID:0111633",
                        "recommended_name": {
                            "id": "DOID:0111633",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111633",
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                        "synonyms": [
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                                "id": "DOID:0111633",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111633",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0111633",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111633",
                                "name": "SI deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111633",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111633",
                                "name": "congenital sucrase-isomaltose malabsorption",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111633",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111633",
                                "name": "congenital sucrose intolerance",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111633",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111633",
                                "name": "disaccharide intolerance",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "congenital sucrase-isomaltase deficiency",
                                "description": "A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose."
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "CSID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "congenital sucrase-isomaltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "congenital sucrose intolerance",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "disaccharide intolerance",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "genetic sucrase-isomaltose malabsorption",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "sucrase-isomaltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "congenital sucrose-isomaltase malabsorption",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "disaccharide intolerance, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "sucrase-isomaltase deficiency, congenital",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "sucrose intolerance congenital",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "sucrose isomaltose enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009114",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009114",
                                "name": "sucrose-isomaltase malabsorption, congenital",
                                "description": ""
                            },
                            {
                                "id": "MIM:222900",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/222900",
                                "name": "Congenital sucrase-isomaltase deficiency",
                                "description": "Congenital sucrase-isomaltase deficiency"
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                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0111633",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111633"
                            },
                            {
                                "id": "0111633",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111633"
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                        ]
                    }
                ],
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                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2108188402",
                        "database": "dbSNP",
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                    },
                    {
                        "id": "rs2108188402",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2108188402"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 995,
                "end_pos": 995,
                "sequence_org": "I",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "3",
                "chr_pos": "165023686",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I995",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs763174301",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763174301"
                    },
                    {
                        "id": "rs763174301",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763174301"
                    },
                    {
                        "id": "rs763174301",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs763174301"
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                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 996,
                "end_pos": 996,
                "sequence_org": "T",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "3",
                "chr_pos": "165023683",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T996",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1559994104",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1559994104"
                    },
                    {
                        "id": "rs1559994104",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1559994104"
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                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 996,
                "end_pos": 996,
                "sequence_org": "T",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "3",
                "chr_pos": "165023682",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T996",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P14410",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P14410"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 997,
                "end_pos": 997,
                "subjects_tested": "719",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "A",
                "sequence_mut": "T",
                "comment": "Somatic mutation passed 0 out of 6 filters: .",
                "chr_id": "3",
                "chr_pos": "165023680",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "A997",
                "disease": [
                    {
                        "disease_id": "DOID:11934",
                        "recommended_name": {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:11934",
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                            "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
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                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "head and neck neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "head and neck tumours",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "head/neck neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "tumor of head and neck",
                                "description": ""
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                        ],
                        "unlinked_id_list": [
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                        "evidence": [
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                                "id": "11934",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:11934"
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                        ]
                    },
                    {
                        "disease_id": "DOID:9256",
                        "recommended_name": {
                            "id": "DOID:9256",
                            "resource": "Disease Ontology",
                            "url": "https://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": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "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",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012955",
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                                "id": "MONDO:0013631",
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                                "id": "MONDO:0013631",
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}
