{
    "uniprot_canonical_ac": "O14917-1",
    "uniprot_ac": "O14917",
    "uniprot_id": "PCD17_HUMAN",
    "mass": {
        "chemical_mass": 126229.0,
        "monoisotopic_mass": 126229.0
    },
    "refseq": {
        "ac": "NP_001035519",
        "name": "protocadherin-17 precursor",
        "summary": "This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008].",
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035519"
    },
    "gene_names": [
        {
            "name": "PCDH17",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "https://www.uniprot.org/uniprot/O14917",
            "id": "O14917"
        },
        {
            "name": "PCDH17",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035519",
            "id": "NP_001035519"
        },
        {
            "name": "PCDH68; PCH68",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035519",
            "id": "NP_001035519"
        },
        {
            "name": "PCDH68",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "https://www.uniprot.org/uniprot/O14917",
            "id": "O14917"
        },
        {
            "name": "PCH68",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "https://www.uniprot.org/uniprot/O14917",
            "id": "O14917"
        }
    ],
    "protein_names": [
        {
            "name": "Protocadherin-17",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "",
            "id": "O14917"
        },
        {
            "name": "Protocadherin-68",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "O14917"
        },
        {
            "name": "protocadherin 68",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035519",
            "id": "NP_001035519"
        },
        {
            "name": "protocadherin-17 precursor",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035519",
            "id": "NP_001035519"
        }
    ],
    "function": [
        {
            "annotation": "MiR-23a-3p promoted G1/S cell cycle transition by targeting protocadherin17 in hepatocellular carcinoma.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001035519",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035519"
                },
                {
                    "database": "PubMed",
                    "id": "31994011",
                    "url": "https://glygen.org/publication/PubMed/31994011"
                }
            ]
        },
        {
            "annotation": "PCDH17 gene promoter methylation status in a cohort of Egyptian women with epithelial ovarian cancer. Publication Status: Online-Only",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001035519",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035519"
                },
                {
                    "database": "PubMed",
                    "id": "36698136",
                    "url": "https://glygen.org/publication/PubMed/36698136"
                }
            ]
        },
        {
            "annotation": "PCDH17 gene was silenced by DNA methylation in acute myeloid leukemia (AML). Low PCDH17 expression is associated with distinct clinical and biological features and improves risk stratification in patients with AML. Publication Status: Online-Only",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001035519",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035519"
                },
                {
                    "database": "PubMed",
                    "id": "30922328",
                    "url": "https://glygen.org/publication/PubMed/30922328"
                }
            ]
        },
        {
            "annotation": "Potential calcium-dependent cell-adhesion protein.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O14917",
                    "url": "https://www.uniprot.org/uniprot/O14917#function"
                }
            ]
        },
        {
            "annotation": "Repression of protocadherin 17 is correlated with elevated angiogenesis and hypoxia markers in female patients with breast cancer.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001035519",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035519"
                },
                {
                    "database": "PubMed",
                    "id": "33896826",
                    "url": "https://glygen.org/publication/PubMed/33896826"
                }
            ]
        },
        {
            "annotation": "This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008].",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001035519",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035519"
                }
            ]
        }
    ],
    "disease": [],
    "snv": [
        {
            "evidence": [
                {
                    "id": "O14917",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14917"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 1051,
            "end_pos": 1051,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "K",
            "sequence_mut": "N",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KGS->NGS).",
            "chr_id": "13",
            "chr_pos": "57724967",
            "ref_nt": "A",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "K1051",
            "disease": [
                {
                    "disease_id": "DOID:11934",
                    "recommended_name": {
                        "id": "DOID:11934",
                        "resource": "Disease Ontology",
                        "url": "http://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": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck tumours",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head/neck neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "tumor of head and neck",
                            "description": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O14917",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14917"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 1074,
            "end_pos": 1074,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "T",
            "sequence_mut": "N",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (TDS->NDS).",
            "chr_id": "13",
            "chr_pos": "57725035",
            "ref_nt": "C",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "T1074",
            "disease": [
                {
                    "disease_id": "DOID:1324",
                    "recommended_name": {
                        "id": "DOID:1324",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1324",
                        "name": "lung cancer",
                        "description": "A respiratory system cancer that is located_in the lung."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "LNCR1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "LNCR3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "adenocarcinoma of lung, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "LNCR4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "LNCR5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": "A malignant neoplasm involving the lung."
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "cancer of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "Nonsmall cell lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "alveolar cell carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MIM:211980",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/211980",
                            "name": "Lung cancer",
                            "description": "Lung cancer"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O14917",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14917"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 1110,
            "end_pos": 1110,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "D",
            "sequence_mut": "N",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DSS->NSS).",
            "chr_id": "13",
            "chr_pos": "57725142",
            "ref_nt": "G",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "D1110",
            "disease": [
                {
                    "disease_id": "DOID:4159",
                    "recommended_name": {
                        "id": "DOID:4159",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:4159",
                        "name": "skin cancer",
                        "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "CA - skin cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "malignant neoplasm of skin",
                            "description": ""
                        },
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "melanoma and Non-melanoma skin cancer",
                            "description": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs777584964",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777584964"
                },
                {
                    "id": "rs777584964",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777584964"
                },
                {
                    "id": "rs777584964",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs777584964"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 1154,
            "end_pos": 1154,
            "sequence_org": "P",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDP->NDS).",
            "chr_id": "13",
            "chr_pos": "57725274",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "P1154",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs777584964",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777584964"
                },
                {
                    "id": "rs777584964",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777584964"
                },
                {
                    "id": "rs777584964",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs777584964"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 1154,
            "end_pos": 1154,
            "sequence_org": "P",
            "sequence_mut": "T",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDP->NDT).",
            "chr_id": "13",
            "chr_pos": "57725274",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "P1154",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs953973412",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs953973412"
                },
                {
                    "id": "rs953973412",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs953973412#frequency_tab"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 146,
            "end_pos": 146,
            "sequence_org": "A",
            "sequence_mut": "T",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAT).",
            "chr_id": "13",
            "chr_pos": "57632982",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "A146",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs775808220",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775808220"
                },
                {
                    "id": "rs775808220",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775808220"
                },
                {
                    "id": "rs775808220",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs775808220"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 22,
            "end_pos": 22,
            "sequence_org": "N",
            "sequence_mut": "D",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->DYS).",
            "chr_id": "13",
            "chr_pos": "57632610",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N22",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs763268503",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763268503"
                },
                {
                    "id": "rs763268503",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763268503"
                },
                {
                    "id": "rs763268503",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs763268503"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 22,
            "end_pos": 22,
            "sequence_org": "N",
            "sequence_mut": "I",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->IYS).",
            "chr_id": "13",
            "chr_pos": "57632611",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N22",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O14917",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14917"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 238,
            "end_pos": 238,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "D",
            "sequence_mut": "N",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DNS->NNS).",
            "chr_id": "13",
            "chr_pos": "57633258",
            "ref_nt": "G",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "D238",
            "disease": [
                {
                    "disease_id": "DOID:5041",
                    "recommended_name": {
                        "id": "DOID:5041",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:5041",
                        "name": "esophageal cancer",
                        "description": "A gastrointestinal system cancer that is located_in the esophagus."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "Ca lower third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "Ca middle third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "esophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of lower third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of middle third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of proximal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of upper third esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of Distal Third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of Proximal Third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of abdominal esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of the middle Third of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the esophagus."
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "cancer of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "cancer of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal carcinoma, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal squamous cell carcinoma, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophagus neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophagus tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of the oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant oesophagus neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant oesophagus tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of the oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "oesophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca lower third esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca lower third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca middle third esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca middle third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of distal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of lower third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of lower third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of middle third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of middle third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of proximal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of proximal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of upper third esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of upper third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of abdominal esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of proximal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of the middle third of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of abdominal oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of distal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of proximal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of the middle third of the oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Aerodigestive tract cancer, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Escc, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal squamous cell carcinoma, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "gastric cardia adenocarcinoma, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MIM:133239",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/133239",
                            "name": "Esophageal cancer",
                            "description": "Esophageal cancer"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs764263504",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764263504"
                },
                {
                    "id": "rs764263504",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764263504"
                },
                {
                    "id": "rs764263504",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs764263504"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 24,
            "end_pos": 24,
            "sequence_org": "S",
            "sequence_mut": "C",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->NYC).",
            "chr_id": "13",
            "chr_pos": "57632617",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "S24",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs764263504",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764263504"
                },
                {
                    "id": "rs764263504",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764263504"
                },
                {
                    "id": "rs764263504",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs764263504"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 24,
            "end_pos": 24,
            "sequence_org": "S",
            "sequence_mut": "F",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->NYF).",
            "chr_id": "13",
            "chr_pos": "57632617",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "S24",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O14917",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14917"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 24,
            "end_pos": 24,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "S",
            "sequence_mut": "P",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NYS->NYP).",
            "chr_id": "13",
            "chr_pos": "57632616",
            "ref_nt": "T",
            "alt_nt": "C",
            "minor_allelic_frequency": "",
            "site_lbl": "S24",
            "disease": [
                {
                    "disease_id": "DOID:9256",
                    "recommended_name": {
                        "id": "DOID:9256",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:9256",
                        "name": "colorectal cancer",
                        "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, advanced, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer with chromosomal instability, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectum cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectum neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "CRC",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "large intestine cancer",
                            "description": ""
                        },
                        {
                            "id": "MIM:114500",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/114500",
                            "name": "Colorectal cancer",
                            "description": "Colorectal cancer"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O14917",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14917"
                }
            ],
            "glycoeffect": [],
            "start_pos": 370,
            "end_pos": 370,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "V",
            "sequence_mut": "I",
            "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
            "chr_id": "13",
            "chr_pos": "57633654",
            "ref_nt": "G",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "V370",
            "disease": [
                {
                    "disease_id": "DOID:363",
                    "recommended_name": {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://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": "http://disease-ontology.org/term/DOID:363",
                            "name": "CA - cancer of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "Tumour of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterus neoplasm",
                            "description": ""
                        }
                    ]
                },
                {
                    "disease_id": "DOID:4362",
                    "recommended_name": {
                        "id": "DOID:4362",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:4362",
                        "name": "cervical cancer",
                        "description": "A female reproductive organ cancer that is located_in the cervix."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:4362",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4362",
                            "name": "cervical neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:4362",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4362",
                            "name": "cervix cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:4362",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4362",
                            "name": "cervix uteri cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:4362",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4362",
                            "name": "neoplasm of uterine cervix",
                            "description": ""
                        },
                        {
                            "id": "DOID:4362",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4362",
                            "name": "tumor of the Cervix Uteri",
                            "description": ""
                        },
                        {
                            "id": "DOID:4362",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4362",
                            "name": "uterine cervical neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "cervical cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the cervix."
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "cervical neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "tumor of the cervix uteri",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "tumour of the cervix uteri",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "uterine cervical neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "cancer of uterine cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "cervical cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "cervix cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "cervix uteri cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant cervical neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant cervical tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant cervical tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant cervix neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant cervix tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant cervix tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant cervix uteri neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant cervix uteri tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant cervix uteri tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant neoplasm of cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant neoplasm of cervix uteri",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant neoplasm of the cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant neoplasm of the cervix uteri",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant neoplasm of the uterine cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant neoplasm of uterine cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumor of cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumor of cervix uteri",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumor of the cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumor of the cervix uteri",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumor of the uterine cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumor of uterine cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumour of cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumour of cervix uteri",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumour of the cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumour of the cervix uteri",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumour of the uterine cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumour of uterine cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant uterine cervix neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant uterine cervix tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant uterine cervix tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "uterine cervix cancer",
                            "description": ""
                        },
                        {
                            "id": "MIM:603956",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/603956",
                            "name": "Cervical cancer",
                            "description": "Cervical cancer"
                        }
                    ]
                },
                {
                    "disease_id": "DOID:11054",
                    "recommended_name": {
                        "id": "DOID:11054",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:11054",
                        "name": "urinary bladder cancer",
                        "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11054",
                            "name": "bladder cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11054",
                            "name": "tumor of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the bladder."
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "tumor of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "tumour of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "bladder cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "cancer of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant bladder neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant bladder tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant bladder tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of the urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm, bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm, urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of the urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor, urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of the urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant urinary bladder neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant urinary bladder tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant urinary bladder tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder malignant neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder malignant tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder malignant tumour",
                            "description": ""
                        },
                        {
                            "id": "MIM:109800",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/109800",
                            "name": "Bladder cancer",
                            "description": "Bladder cancer"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O14917",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14917"
                },
                {
                    "id": "rs555111507",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555111507"
                },
                {
                    "id": "rs555111507",
                    "database": "1000Genomes",
                    "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs555111507"
                },
                {
                    "id": "rs555111507",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555111507"
                },
                {
                    "id": "rs555111507",
                    "database": "NCI-TCGA",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555111507"
                },
                {
                    "id": "rs555111507",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs555111507#frequency_tab"
                },
                {
                    "id": "rs555111507",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs555111507"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 39,
            "end_pos": 39,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "G",
            "sequence_mut": "S",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NIG->NIS).",
            "chr_id": "13",
            "chr_pos": "57632661",
            "ref_nt": "G",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "G39",
            "disease": [
                {
                    "disease_id": "DOID:9256",
                    "recommended_name": {
                        "id": "DOID:9256",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:9256",
                        "name": "colorectal cancer",
                        "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, advanced, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer with chromosomal instability, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectum cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectum neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "CRC",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "large intestine cancer",
                            "description": ""
                        },
                        {
                            "id": "MIM:114500",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/114500",
                            "name": "Colorectal cancer",
                            "description": "Colorectal cancer"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease",
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O14917",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14917"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 453,
            "end_pos": 453,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "N",
            "sequence_mut": "D",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NST->DST).",
            "chr_id": "13",
            "chr_pos": "57633903",
            "ref_nt": "A",
            "alt_nt": "G",
            "minor_allelic_frequency": "",
            "site_lbl": "N453",
            "disease": [
                {
                    "disease_id": "DOID:363",
                    "recommended_name": {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://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": "http://disease-ontology.org/term/DOID:363",
                            "name": "CA - cancer of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "Tumour of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterus neoplasm",
                            "description": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs569566282",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs569566282"
                },
                {
                    "id": "rs569566282",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs569566282"
                },
                {
                    "id": "rs569566282",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs569566282"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 453,
            "end_pos": 453,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->SST).",
            "chr_id": "13",
            "chr_pos": "57633904",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N453",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O14917",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14917"
                }
            ],
            "glycoeffect": [],
            "start_pos": 49,
            "end_pos": 49,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "P",
            "sequence_mut": "L",
            "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
            "chr_id": "13",
            "chr_pos": "57632692",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "P49",
            "disease": [
                {
                    "disease_id": "DOID:363",
                    "recommended_name": {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://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": "http://disease-ontology.org/term/DOID:363",
                            "name": "CA - cancer of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "Tumour of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterus neoplasm",
                            "description": ""
                        }
                    ]
                },
                {
                    "disease_id": "DOID:4362",
                    "recommended_name": {
                        "id": "DOID:4362",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:4362",
                        "name": "cervical cancer",
                        "description": "A female reproductive organ cancer that is located_in the cervix."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:4362",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4362",
                            "name": "cervical neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:4362",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4362",
                            "name": "cervix cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:4362",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4362",
                            "name": "cervix uteri cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:4362",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4362",
                            "name": "neoplasm of uterine cervix",
                            "description": ""
                        },
                        {
                            "id": "DOID:4362",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4362",
                            "name": "tumor of the Cervix Uteri",
                            "description": ""
                        },
                        {
                            "id": "DOID:4362",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4362",
                            "name": "uterine cervical neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "cervical cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the cervix."
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "cervical neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "tumor of the cervix uteri",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "tumour of the cervix uteri",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "uterine cervical neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "cancer of uterine cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "cervical cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "cervix cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "cervix uteri cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant cervical neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant cervical tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant cervical tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant cervix neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant cervix tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant cervix tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant cervix uteri neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant cervix uteri tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant cervix uteri tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant neoplasm of cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant neoplasm of cervix uteri",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant neoplasm of the cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant neoplasm of the cervix uteri",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant neoplasm of the uterine cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant neoplasm of uterine cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumor of cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumor of cervix uteri",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumor of the cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumor of the cervix uteri",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumor of the uterine cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumor of uterine cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumour of cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumour of cervix uteri",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumour of the cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumour of the cervix uteri",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumour of the uterine cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant tumour of uterine cervix",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant uterine cervix neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant uterine cervix tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "malignant uterine cervix tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                            "name": "uterine cervix cancer",
                            "description": ""
                        },
                        {
                            "id": "MIM:603956",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/603956",
                            "name": "Cervical cancer",
                            "description": "Cervical cancer"
                        }
                    ]
                },
                {
                    "disease_id": "DOID:9256",
                    "recommended_name": {
                        "id": "DOID:9256",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:9256",
                        "name": "colorectal cancer",
                        "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, advanced, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer with chromosomal instability, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectum cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectum neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "CRC",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "large intestine cancer",
                            "description": ""
                        },
                        {
                            "id": "MIM:114500",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/114500",
                            "name": "Colorectal cancer",
                            "description": "Colorectal cancer"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs773835746",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773835746"
                },
                {
                    "id": "rs773835746",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773835746"
                },
                {
                    "id": "rs773835746",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs773835746"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 518,
            "end_pos": 518,
            "sequence_org": "D",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVS->NVS).",
            "chr_id": "13",
            "chr_pos": "57634098",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "D518",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O14917",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14917"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 529,
            "end_pos": 529,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "P",
            "sequence_mut": "S",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPT->NST).",
            "chr_id": "13",
            "chr_pos": "57634131",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "P529",
            "disease": [
                {
                    "disease_id": "DOID:4159",
                    "recommended_name": {
                        "id": "DOID:4159",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:4159",
                        "name": "skin cancer",
                        "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "CA - skin cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "malignant neoplasm of skin",
                            "description": ""
                        },
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "melanoma and Non-melanoma skin cancer",
                            "description": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs766245927",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766245927"
                },
                {
                    "id": "rs766245927",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766245927"
                },
                {
                    "id": "rs766245927",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs766245927"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 568,
            "end_pos": 568,
            "sequence_org": "T",
            "sequence_mut": "K",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->NAK).",
            "chr_id": "13",
            "chr_pos": "57634249",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T568",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O14917",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14917"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 592,
            "end_pos": 592,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "T",
            "sequence_mut": "N",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NDT->NDN).",
            "chr_id": "13",
            "chr_pos": "57634321",
            "ref_nt": "C",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "T592",
            "disease": [
                {
                    "disease_id": "DOID:11934",
                    "recommended_name": {
                        "id": "DOID:11934",
                        "resource": "Disease Ontology",
                        "url": "http://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": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck tumours",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head/neck neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "tumor of head and neck",
                            "description": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs779125132",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779125132"
                },
                {
                    "id": "rs779125132",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779125132"
                },
                {
                    "id": "rs779125132",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs779125132"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 685,
            "end_pos": 685,
            "sequence_org": "S",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SGS->NGS).",
            "chr_id": "13",
            "chr_pos": "57634600",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "S685",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O14917",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14917"
                },
                {
                    "id": "rs1466552019",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1466552019"
                },
                {
                    "id": "rs1466552019",
                    "database": "NCI-TCGA",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1466552019"
                },
                {
                    "id": "rs1466552019",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1466552019#frequency_tab"
                },
                {
                    "id": "21720365",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/21720365"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 703,
            "end_pos": 703,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "D",
            "sequence_mut": "N",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DMS->NMS).",
            "chr_id": "13",
            "chr_pos": "57634653",
            "ref_nt": "G",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "D703",
            "disease": [
                {
                    "disease_id": "DOID:2394",
                    "recommended_name": {
                        "id": "DOID:2394",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:2394",
                        "name": "ovarian cancer",
                        "description": "A female reproductive organ cancer that is located_in the ovary."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "malignant Ovarian tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "malignant tumour of ovary",
                            "description": ""
                        },
                        {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "ovarian neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "ovary neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "primary ovarian cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "tumor of the Ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011931",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                            "name": "ovarian cancer, susceptibility to, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011931",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                            "name": "OVCAS1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011931",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                            "name": "ovarian cancer, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011931",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                            "name": "ovarian cancer, susceptibility to, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "ovarian cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "ovarian neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "ovary neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "tumor of the ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "tumour of the ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "cancer of ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "cancer of the ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "malignant neoplasm of ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "malignant neoplasm of the ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "malignant ovarian neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "malignant ovarian tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "malignant ovarian tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "malignant ovary neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "malignant tumor of ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "malignant tumor of the ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "malignant tumour of ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "malignant tumour of the ovary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "ovarian cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "ovarian cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "ovarian malignant tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "ovarian malignant tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "ovary cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "ovarian cancer, epithelial",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008170",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                            "name": "primary ovarian cancer",
                            "description": ""
                        },
                        {
                            "id": "MIM:167000",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/167000",
                            "name": "Ovarian cancer",
                            "description": "Ovarian cancer"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease",
                "ebi"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O14917",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14917"
                }
            ],
            "glycoeffect": [
                "o-glyco-site-loss"
            ],
            "start_pos": 705,
            "end_pos": 705,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "S",
            "sequence_mut": "L",
            "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
            "chr_id": "13",
            "chr_pos": "57634660",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "S705",
            "disease": [
                {
                    "disease_id": "DOID:9256",
                    "recommended_name": {
                        "id": "DOID:9256",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:9256",
                        "name": "colorectal cancer",
                        "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, advanced, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer with chromosomal instability, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectum cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectum neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "CRC",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "large intestine cancer",
                            "description": ""
                        },
                        {
                            "id": "MIM:114500",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/114500",
                            "name": "Colorectal cancer",
                            "description": "Colorectal cancer"
                        }
                    ]
                },
                {
                    "disease_id": "DOID:363",
                    "recommended_name": {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://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": "http://disease-ontology.org/term/DOID:363",
                            "name": "CA - cancer of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "Tumour of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterus neoplasm",
                            "description": ""
                        }
                    ]
                },
                {
                    "disease_id": "DOID:10534",
                    "recommended_name": {
                        "id": "DOID:10534",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:10534",
                        "name": "stomach cancer",
                        "description": "A gastrointestinal system cancer that is located_in the stomach."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the stomach."
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca lesser curvature - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "cancer of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer risk after h. pylori infection",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant stomach neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "stomach cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca body - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "ca greater curvature of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, intestinal",
                            "description": ""
                        },
                        {
                            "id": "MIM:613659",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/613659",
                            "name": "Gastric cancer",
                            "description": "Gastric cancer"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1035674676",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1035674676"
                },
                {
                    "id": "rs1035674676",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1035674676"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 767,
            "end_pos": 767,
            "sequence_org": "I",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDI->NDS).",
            "chr_id": "13",
            "chr_pos": "57634846",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "I767",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1035674676",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1035674676"
                },
                {
                    "id": "rs1035674676",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1035674676"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 767,
            "end_pos": 767,
            "sequence_org": "I",
            "sequence_mut": "T",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDI->NDT).",
            "chr_id": "13",
            "chr_pos": "57634846",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "I767",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O14917",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14917"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 860,
            "end_pos": 860,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "P",
            "sequence_mut": "S",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NFP->NFS).",
            "chr_id": "13",
            "chr_pos": "57666480",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "P860",
            "disease": [
                {
                    "disease_id": "DOID:4159",
                    "recommended_name": {
                        "id": "DOID:4159",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:4159",
                        "name": "skin cancer",
                        "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "CA - skin cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "malignant neoplasm of skin",
                            "description": ""
                        },
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "melanoma and Non-melanoma skin cancer",
                            "description": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs370854578",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370854578"
                },
                {
                    "id": "rs370854578",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370854578"
                },
                {
                    "id": "rs370854578",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs370854578#frequency_tab"
                },
                {
                    "id": "rs370854578",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs370854578"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 866,
            "end_pos": 866,
            "sequence_org": "M",
            "sequence_mut": "T",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYM->NYT).",
            "chr_id": "13",
            "chr_pos": "57666499",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "M866",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O14917",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14917"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 964,
            "end_pos": 964,
            "subjects_tested": "585",
            "subjects_positive": "1",
            "frequency": "0.2",
            "sequence_org": "A",
            "sequence_mut": "S",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NQA->NQS).",
            "chr_id": "13",
            "chr_pos": "57724704",
            "ref_nt": "G",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "A964",
            "disease": [
                {
                    "disease_id": "DOID:1324",
                    "recommended_name": {
                        "id": "DOID:1324",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1324",
                        "name": "lung cancer",
                        "description": "A respiratory system cancer that is located_in the lung."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "LNCR1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "LNCR3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "adenocarcinoma of lung, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "LNCR4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "LNCR5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": "A malignant neoplasm involving the lung."
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "cancer of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "Nonsmall cell lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "alveolar cell carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MIM:211980",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/211980",
                            "name": "Lung cancer",
                            "description": "Lung cancer"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs550912408",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550912408"
                },
                {
                    "id": "rs550912408",
                    "database": "1000Genomes",
                    "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs550912408"
                },
                {
                    "id": "rs550912408",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs550912408"
                },
                {
                    "id": "rs550912408",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs550912408"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 964,
            "end_pos": 964,
            "sequence_org": "A",
            "sequence_mut": "T",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQA->NQT).",
            "chr_id": "13",
            "chr_pos": "57724704",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "0.0002",
            "site_lbl": "A964",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs773465403",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773465403"
                },
                {
                    "id": "rs773465403",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773465403"
                },
                {
                    "id": "rs773465403",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs773465403"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 974,
            "end_pos": 974,
            "sequence_org": "F",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLF->NLS).",
            "chr_id": "13",
            "chr_pos": "57724735",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "F974",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs111675034",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111675034"
                },
                {
                    "id": "rs111675034",
                    "database": "ENSEMBL",
                    "url": "https://www.ensembl.org/id/rs111675034"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 984,
            "end_pos": 984,
            "sequence_org": "T",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TET->NET).",
            "chr_id": "13",
            "chr_pos": "57724765",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T984",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1359253661",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359253661"
                },
                {
                    "id": "rs1359253661",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1359253661"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 987,
            "end_pos": 987,
            "sequence_org": "Y",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YET->NET).",
            "chr_id": "13",
            "chr_pos": "57724773",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "Y987",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O14917",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14917"
                }
            ],
            "glycoeffect": [],
            "start_pos": 988,
            "end_pos": 988,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "E",
            "sequence_mut": "K",
            "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).",
            "chr_id": "13",
            "chr_pos": "57724776",
            "ref_nt": "G",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "E988",
            "disease": [
                {
                    "disease_id": "DOID:10534",
                    "recommended_name": {
                        "id": "DOID:10534",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:10534",
                        "name": "stomach cancer",
                        "description": "A gastrointestinal system cancer that is located_in the stomach."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the stomach."
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca lesser curvature - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "cancer of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer risk after h. pylori infection",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant stomach neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "stomach cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca body - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "ca greater curvature of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, intestinal",
                            "description": ""
                        },
                        {
                            "id": "MIM:613659",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/613659",
                            "name": "Gastric cancer",
                            "description": "Gastric cancer"
                        }
                    ]
                },
                {
                    "disease_id": "DOID:363",
                    "recommended_name": {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://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": "http://disease-ontology.org/term/DOID:363",
                            "name": "CA - cancer of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "Tumour of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterus neoplasm",
                            "description": ""
                        }
                    ]
                },
                {
                    "disease_id": "DOID:4159",
                    "recommended_name": {
                        "id": "DOID:4159",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:4159",
                        "name": "skin cancer",
                        "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "CA - skin cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "malignant neoplasm of skin",
                            "description": ""
                        },
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "melanoma and Non-melanoma skin cancer",
                            "description": ""
                        }
                    ]
                },
                {
                    "disease_id": "DOID:9256",
                    "recommended_name": {
                        "id": "DOID:9256",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:9256",
                        "name": "colorectal cancer",
                        "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, advanced, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer with chromosomal instability, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectum cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectum neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "CRC",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "large intestine cancer",
                            "description": ""
                        },
                        {
                            "id": "MIM:114500",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/114500",
                            "name": "Colorectal cancer",
                            "description": "Colorectal cancer"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O14917",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14917"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 992,
            "end_pos": 992,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "P",
            "sequence_mut": "S",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPT->NST).",
            "chr_id": "13",
            "chr_pos": "57724788",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "P992",
            "disease": [
                {
                    "disease_id": "DOID:4159",
                    "recommended_name": {
                        "id": "DOID:4159",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:4159",
                        "name": "skin cancer",
                        "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "CA - skin cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "malignant neoplasm of skin",
                            "description": ""
                        },
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "melanoma and Non-melanoma skin cancer",
                            "description": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        }
    ],
    "mutagenesis": [],
    "expression_tissue": [
        {
            "tissue": {
                "name": "Adult mammalian kidney",
                "namespace": "UBERON",
                "id": "0000082",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000082"
            },
            "score": "70",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118946",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118946"
                }
            ]
        },
        {
            "tissue": {
                "name": "Oral cavity",
                "namespace": "UBERON",
                "id": "0000167",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000167"
            },
            "score": "57.87",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118946",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118946"
                }
            ]
        },
        {
            "tissue": {
                "name": "Stomach",
                "namespace": "UBERON",
                "id": "0000945",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000945"
            },
            "score": "65.91",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118946",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118946"
                }
            ]
        },
        {
            "tissue": {
                "name": "Uterus",
                "namespace": "UBERON",
                "id": "0000995",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000995"
            },
            "score": "72.9",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118946",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118946"
                }
            ]
        },
        {
            "tissue": {
                "name": "Esophagus",
                "namespace": "UBERON",
                "id": "0001043",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001043"
            },
            "score": "66.01",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118946",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118946"
                }
            ]
        },
        {
            "tissue": {
                "name": "Rectum",
                "namespace": "UBERON",
                "id": "0001052",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001052"
            },
            "score": "65.49",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118946",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118946"
                }
            ]
        },
        {
            "tissue": {
                "name": "Colon",
                "namespace": "UBERON",
                "id": "0001155",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001155"
            },
            "score": "59.79",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118946",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118946"
                }
            ]
        },
        {
            "tissue": {
                "name": "Urinary bladder",
                "namespace": "UBERON",
                "id": "0001255",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001255"
            },
            "score": "61.47",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118946",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118946"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thyroid gland",
                "namespace": "UBERON",
                "id": "0002046",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002046"
            },
            "score": "74.22",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118946",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118946"
                }
            ]
        },
        {
            "tissue": {
                "name": "Lung",
                "namespace": "UBERON",
                "id": "0002048",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002048"
            },
            "score": "83.13",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118946",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118946"
                }
            ]
        },
        {
            "tissue": {
                "name": "Liver",
                "namespace": "UBERON",
                "id": "0002107",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002107"
            },
            "score": "63.28",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118946",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118946"
                }
            ]
        },
        {
            "tissue": {
                "name": "Prostate gland",
                "namespace": "UBERON",
                "id": "0002367",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002367"
            },
            "score": "58.06",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118946",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118946"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thoracic mammary gland",
                "namespace": "UBERON",
                "id": "0005200",
                "url": "http://purl.obolibrary.org/obo/UBERON_0005200"
            },
            "score": "59.72",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118946",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118946"
                }
            ]
        }
    ],
    "expression_disease": [
        {
            "significant": "Yes",
            "trend": "up",
            "name": "Prostate cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:10283",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O14917",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14917"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:10283",
                    "recommended_name": {
                        "id": "DOID:10283",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:10283",
                        "name": "prostate cancer",
                        "description": "A male reproductive organ cancer that is located_in the prostate."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "NGP - new growth of prostate",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "hereditary prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "malignant tumor of the prostate",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostate cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostate neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostatic cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostatic neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "tumor of the prostate",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "prostate cancer, hereditary, 9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "prostate cancer, hereditary, 9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "prostate cancer, hereditary, type 9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "HPC9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "prostate cancer, hereditary, 12",
                            "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "EHBP1 familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "familial prostate cancer caused by mutation in EHBP1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "prostate cancer, hereditary, 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "prostate cancer, hereditary, type 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "HPC12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "prostate cancer, hereditary, 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "prostate cancer, hereditary, 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "prostate cancer, hereditary, type 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "HPC5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, hereditary, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, hereditary, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, hereditary, type 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, susceptibility to, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "HPC3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, type 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, susceptibility to, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "HPC4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, on chromosome 7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "prostate cancer, hereditary, 13",
                            "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "MSMB familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "familial prostate cancer caused by mutation in MSMB",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "prostate cancer, hereditary, 13",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "prostate cancer, hereditary, type 13",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "HPC13",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, hereditary, 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, hereditary, 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, hereditary, type 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "HPC8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "predisposing for prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, hereditary, 6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, hereditary, 6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, hereditary, type 6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "HPC6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012620",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                            "name": "prostate cancer, hereditary, 10",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012620",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                            "name": "HPC10",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012620",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                            "name": "prostate cancer, hereditary, 10",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "familial prostate carcinoma",
                            "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "hereditary prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "hereditary prostate carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, hereditary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "prostate cancer, hereditary, 7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "HPC7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "prostate cancer, hereditary, 7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "prostate cancer aggressiveness",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer, hereditary, 1",
                            "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "RNASEL familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "familial prostate cancer caused by mutation in RNASEL",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer, hereditary, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer, hereditary, type 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "HPC1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "Prca1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012768",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                            "name": "prostate cancer, hereditary, 11",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012768",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                            "name": "HPC11",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012768",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                            "name": "prostate cancer, hereditary, 11",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012769",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                            "name": "prostate cancer, hereditary, 14",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012769",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                            "name": "HPC14",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012769",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                            "name": "prostate cancer, hereditary, 14",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012770",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                            "name": "prostate cancer, hereditary, 15",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012770",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                            "name": "HPC15",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012770",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                            "name": "prostate cancer, hereditary, 15",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "prostate cancer, hereditary, X-linked 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "HPCX1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "prostate cancer, hereditary, X-linked 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "prostate cancer susceptibility, X-linked",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010405",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                            "name": "prostate cancer, hereditary, X-linked 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010405",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                            "name": "HPCX2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010405",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                            "name": "prostate cancer, hereditary, X-linked 2",
                            "description": ""
                        },
                        {
                            "id": "MIM:611868",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/611868",
                            "name": "Prostate cancer, hereditary, 12",
                            "description": "Prostate cancer, hereditary, 12"
                        },
                        {
                            "id": "MIM:611928",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/611928",
                            "name": "Prostate cancer, hereditary, 13",
                            "description": "Prostate cancer, hereditary, 13"
                        },
                        {
                            "id": "MIM:176807",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/176807",
                            "name": "Prostate cancer",
                            "description": "Prostate cancer"
                        },
                        {
                            "id": "MIM:601518",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/601518",
                            "name": "Prostate cancer, hereditary, 1",
                            "description": "Prostate cancer, hereditary, 1"
                        },
                        {
                            "id": "MIM:611955",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/611955",
                            "name": "Prostate cancer, hereditary, 11",
                            "description": "Prostate cancer, hereditary, 11"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "up",
            "name": "Stomach cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:10534",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O14917",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14917"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:10534",
                    "recommended_name": {
                        "id": "DOID:10534",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:10534",
                        "name": "stomach cancer",
                        "description": "A gastrointestinal system cancer that is located_in the stomach."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the stomach."
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca lesser curvature - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "cancer of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer risk after h. pylori infection",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant stomach neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "stomach cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca body - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "ca greater curvature of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, intestinal",
                            "description": ""
                        },
                        {
                            "id": "MIM:613659",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/613659",
                            "name": "Gastric cancer",
                            "description": "Gastric cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "No",
            "trend": "up",
            "name": "Urinary bladder cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:11054",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O14917",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14917"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:11054",
                    "recommended_name": {
                        "id": "DOID:11054",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:11054",
                        "name": "urinary bladder cancer",
                        "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11054",
                            "name": "bladder cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11054",
                            "name": "tumor of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the bladder."
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "tumor of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "tumour of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "bladder cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "cancer of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant bladder neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant bladder tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant bladder tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of the urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm, bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm, urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of the urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor, urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of the urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant urinary bladder neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant urinary bladder tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant urinary bladder tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder malignant neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder malignant tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder malignant tumour",
                            "description": ""
                        },
                        {
                            "id": "MIM:109800",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/109800",
                            "name": "Bladder cancer",
                            "description": "Bladder cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "up",
            "name": "Head and neck cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:11934",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O14917",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14917"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:11934",
                    "recommended_name": {
                        "id": "DOID:11934",
                        "resource": "Disease Ontology",
                        "url": "http://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": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck tumours",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head/neck neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "tumor of head and neck",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Lung cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1324",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O14917",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14917"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:1324",
                    "recommended_name": {
                        "id": "DOID:1324",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1324",
                        "name": "lung cancer",
                        "description": "A respiratory system cancer that is located_in the lung."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "LNCR1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "LNCR3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "adenocarcinoma of lung, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "LNCR4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "LNCR5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": "A malignant neoplasm involving the lung."
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "cancer of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "Nonsmall cell lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "alveolar cell carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MIM:211980",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/211980",
                            "name": "Lung cancer",
                            "description": "Lung cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "up",
            "name": "Breast cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1612",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O14917",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14917"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:1612",
                    "recommended_name": {
                        "id": "DOID:1612",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1612",
                        "name": "breast cancer",
                        "description": "A thoracic cancer that originates in the mammary gland."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "breast tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "malignant neoplasm of breast",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "malignant tumor of the breast",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "mammary cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "mammary tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "primary breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast carcinoma",
                            "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, lobular, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial breast carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial cancer of breast",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial cancer of the breast",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, familial Male",
                            "description": ""
                        },
                        {
                            "id": "MIM:114480",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/114480",
                            "name": "Breast cancer",
                            "description": "Breast cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "up",
            "name": "Thyroid cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1781",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O14917",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14917"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:1781",
                    "recommended_name": {
                        "id": "DOID:1781",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1781",
                        "name": "thyroid cancer",
                        "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "thyroid gland cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "Thyroid gland neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "malignant neoplasm of thyroid gland",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "malignant tumour of thyroid gland",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "neoplasm of thyroid gland",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "thyroid neoplasm",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "up",
            "name": "Kidney cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:263",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O14917",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14917"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:263",
                    "recommended_name": {
                        "id": "DOID:263",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:263",
                        "name": "kidney cancer",
                        "description": "A urinary system cancer that is located_in the kidney."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "malignant neoplasm of kidney except pelvis",
                            "description": ""
                        },
                        {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "malignant tumour of kidney",
                            "description": ""
                        },
                        {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "renal cancer",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "up",
            "name": "Liver cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:3571",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O14917",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14917"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:3571",
                    "recommended_name": {
                        "id": "DOID:3571",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:3571",
                        "name": "liver cancer",
                        "description": "A hepatobiliary system cancer that is located_in the liver."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "Ca liver - primary",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "Resectable malignant neoplasm of Liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "hepatic cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "hepatic neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant hepato-biliary neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant neoplasm of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant neoplasm of liver, primary",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant tumor of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "neoplasm of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "non-resectable primary hepatic malignant neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "primary liver cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "primary malignant neoplasm of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "resectable malignant neoplasm of the liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant neoplasm of liver, not specified as primary or secondary",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Uterine cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:363",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O14917",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14917"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:363",
                    "recommended_name": {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://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": "http://disease-ontology.org/term/DOID:363",
                            "name": "CA - cancer of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "Tumour of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterus neoplasm",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "No",
            "trend": "up",
            "name": "Esophageal cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:5041",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O14917",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14917"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:5041",
                    "recommended_name": {
                        "id": "DOID:5041",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:5041",
                        "name": "esophageal cancer",
                        "description": "A gastrointestinal system cancer that is located_in the esophagus."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "Ca lower third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "Ca middle third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "esophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of lower third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of middle third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of proximal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of upper third esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of Distal Third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of Proximal Third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of abdominal esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of the middle Third of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the esophagus."
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "cancer of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "cancer of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal carcinoma, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal squamous cell carcinoma, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophagus neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophagus tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of the oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant oesophagus neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant oesophagus tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of the oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "oesophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca lower third esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca lower third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca middle third esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca middle third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of distal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of lower third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of lower third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of middle third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of middle third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of proximal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of proximal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of upper third esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of upper third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of abdominal esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of proximal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of the middle third of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of abdominal oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of distal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of proximal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of the middle third of the oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Aerodigestive tract cancer, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Escc, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal squamous cell carcinoma, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "gastric cardia adenocarcinoma, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MIM:133239",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/133239",
                            "name": "Esophageal cancer",
                            "description": "Esophageal cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "up",
            "name": "Colorectal cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:9256",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O14917",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14917"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:9256",
                    "recommended_name": {
                        "id": "DOID:9256",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:9256",
                        "name": "colorectal cancer",
                        "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, advanced, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer with chromosomal instability, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectum cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectum neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "CRC",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "large intestine cancer",
                            "description": ""
                        },
                        {
                            "id": "MIM:114500",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/114500",
                            "name": "Colorectal cancer",
                            "description": "Colorectal cancer"
                        }
                    ]
                }
            ]
        }
    ],
    "species": [
        {
            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O14917",
                    "url": "https://www.uniprot.org/uniprot/O14917"
                }
            ],
            "common_name": "Human"
        }
    ],
    "gene": [
        {
            "name": "PCDH17",
            "url": "https://www.uniprot.org/uniprot/O14917",
            "locus": {
                "chromosome": "13",
                "start_pos": 57729311,
                "end_pos": 57631744,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Gene",
                        "id": "ENSG00000118946",
                        "url": "https://www.ensembl.org/id/ENSG00000118946"
                    }
                ]
            }
        }
    ],
    "crossref": [
        {
            "id": "ENSG00000118946",
            "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118946",
            "database": "Bgee",
            "categories": [
                "Gene Expression"
            ]
        },
        {
            "id": "O14917",
            "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14917",
            "database": "BioMuta",
            "categories": [
                "Variation"
            ]
        },
        {
            "id": "cd11304",
            "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd11304",
            "database": "CDD",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PCDH17",
            "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH17",
            "database": "GeneCards",
            "categories": [
                "Gene Annotation",
                "Organism-specific"
            ]
        },
        {
            "id": "27253",
            "url": "https://www.ncbi.nlm.nih.gov/gene/27253",
            "database": "GeneID",
            "categories": [
                "Genome Annotation"
            ]
        },
        {
            "id": "14267",
            "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=14267",
            "database": "HGNC",
            "categories": [
                "Organism-specific"
            ]
        },
        {
            "id": "O14917",
            "url": "https://www.ebi.ac.uk/intact/interactors/id:O14917*",
            "database": "IntAct",
            "categories": [
                "Other"
            ]
        },
        {
            "id": "IPR002126",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR002126",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR013164",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR013164",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR015919",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR015919",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR020894",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR020894",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "hsa:27253",
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:27253",
            "database": "KEGG Pathway",
            "categories": [
                "Enzyme and Pathway"
            ]
        },
        {
            "id": "611760",
            "url": "http://www.omim.org/entry/611760",
            "database": "MIM",
            "categories": [
                "Other"
            ]
        },
        {
            "id": "NX_O14917",
            "url": "https://www.nextprot.org/entry/NX_O14917",
            "database": "neXtProt",
            "categories": [
                "Protein",
                "Organism-specific"
            ]
        },
        {
            "id": "CYVPDRI",
            "url": "https://omabrowser.org/oma/group/CYVPDRI/",
            "database": "OMA",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "4259465at2759",
            "url": "http://www.orthodb.org/?query=4259465at2759",
            "database": "OrthoDB",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PTHR24028",
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24028",
            "database": "PANTHER",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PTHR24028:SF41",
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24028:SF41",
            "database": "PANTHER",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "6VFT",
            "url": "https://www.rcsb.org/structure/6VFT",
            "database": "PDB",
            "categories": [
                "3D Structure"
            ]
        },
        {
            "id": "PF00028",
            "url": "http://pfam.xfam.org/family/PF00028",
            "database": "Pfam",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PF08266",
            "url": "http://pfam.xfam.org/family/PF08266",
            "database": "Pfam",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "O14917",
            "url": "https://pharos.nih.gov/targets/O14917",
            "database": "PHAROS",
            "categories": [
                "Organism-specific"
            ]
        },
        {
            "id": "PR_O14917",
            "url": "http://purl.obolibrary.org/obo/PR_O14917",
            "database": "PRO",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "NP_001035519",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035519",
            "database": "RefSeq",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A087WXV2",
            "url": "https://www.uniprot.org/uniprot/A0A087WXV2",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A087WXV2-1",
            "url": "https://www.uniprot.org/uniprot/A0A087WXV2-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A087X099",
            "url": "https://www.uniprot.org/uniprot/A0A087X099",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A087X099-1",
            "url": "https://www.uniprot.org/uniprot/A0A087X099-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "O14917",
            "url": "https://www.uniprot.org/uniprot/O14917",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "O14917-1",
            "url": "https://www.uniprot.org/uniprot/O14917-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "O14917-2",
            "url": "https://www.uniprot.org/uniprot/O14917-2",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        }
    ],
    "sequence": {
        "sequence": "MYLSICCCFLLWAPALTLKNLNYSVPEEQGAGTVIGNIGRDARLQPGLPPAERGGGGRSKSGSYRVLENSAPHLLDVDADSGLLYTKQRIDRESLCRHNAKCQLSLEVFANDKEICMIKVEIQDINDNAPSFSSDQIEMDISENAAPGTRFPLTSAHDPDAGENGLRTYLLTRDDHGLFGLDVKSRGDGTKFPELVIQKALDREQQNHHTLVLTALDGGEPPRSATVQINVKVIDSNDNSPVFEAPSYLVELPENAPLGTVVIDLNATDADEGPNGEVLYSFSSYVPDRVRELFSIDPKTGLIRVKGNLDYEENGMLEIDVQARDLGPNPIPAHCKVTVKLIDRNDNAPSIGFVSVRQGALSEAAPPGTVIALVRVTDRDSGKNGQLQCRVLGGGGTGGGGGLGGPGGSVPFKLEENYDNFYTVVTDRPLDRETQDEYNVTIVARDGGSPPLNSTKSFAIKILDENDNPPRFTKGLYVLQVHENNIPGEYLGSVLAQDPDLGQNGTVSYSILPSHIGDVSIYTYVSVNPTNGAIYALRSFNFEQTKAFEFKVLAKDSGAPAHLESNATVRVTVLDVNDNAPVIVLPTLQNDTAELQVPRNAGLGYLVSTVRALDSDFGESGRLTYEIVDGNDDHLFEIDPSSGEIRTLHPFWEDVTPVVELVVKVTDHGKPTLSAVAKLIIRSVSGSLPEGVPRVNGEQHHWDMSLPLIVTLSTISIILLAAMITIAVKCKRENKEIRTYNCRIAEYSHPQLGGGKGKKKKINKNDIMLVQSEVEERNAMNVMNVVSSPSLATSPMYFDYQTRLPLSSPRSEVMYLKPASNNLTVPQGHAGCHTSFTGQGTNASETPATRMSIIQTDNFPAEPNYMGSRQQFVQSSSTFKDPERASLRDSGHGDSDQADSDQDTNKGSCCDMSVREALKMKTTSTKSQPLEQEPEECVNCTDECRVLGHSDRCWMPQFPAANQAENADYRTNLFVPTVEANVETETYETVNPTGKKTFCTFGKDKREHTILIANVKPYLKAKRALSPLLQEVPSASSSPTKACIEPCTSTKGSLDGCEAKPGALAEASSQYLPTDSQYLSPSKQPRDPPFMASDQMARVFADVHSRASRDSSEMGAVLEQLDHPNRDLGRESVDAEEVVREIDKLLQDCRGNDPVAVRK",
        "length": 1159,
        "header": "sp|O14917-1|PCD17_HUMAN Isoform 1 of Protocadherin-17  OS=Homo sapiens OX=9606 GN=PCDH17 PE=1 SV=2 CANONICAL=O14917-1"
    },
    "isoforms": [
        {
            "isoform_ac": "A0A087WXV2-1",
            "url": "",
            "sequence": {
                "sequence": "LDSDFGESGRLTYEIVDGNDDHLFEIDPSSGEIRTLHPFWEDVTPVVELVVKVTDHGKPTLSAVAKLIIRSVSGSLPEGVPRVNGEQHHWDMSLPLIVTLSTISIILLAAMITIAVKCKRENKEIRTYNCRIAEYSHPQLGGGKGKKKKINKNDIMLVQSEVEERNAMNVMNVVSSPSLATSPMYFDYQTRLPLSSPRSEVMYLKPASNNLTVPQGHAGCHTSFTGQGTNASETPATRMSIIQTDNFPAEPNYMGSRQQFVQSSTFKDPERASLRDSGHGDSDQADSDQDTNKGSCCDMSVREALKMKTTSTKSQPLEQEPEECVNCTDECRVLGHSDRCWMPQFPAANQAENADYRTNLFVPTVEANVETETYETVNPTGKKTFCTFGKDKREHTILIANVKPYLKAKRALSPLLQEVPSASSSPTKACIEPCTSTKGSLDGCEAKPGALAEASSQYLPTDSQYLSPSKQPRDPPFMASDQMARVFADVHSRASRDSSEMGAVLEQLDHPNRDLGRESVDAEEVVREIDKLLQDCRGNDPVAVRK",
                "length": 546,
                "header": "tr|A0A087WXV2-1|A0A087WXV2_HUMAN Computationally mapped isoform of Protocadherin 17  OS=Homo sapiens OX=9606 GN=PCDH17 PE=1 SV=1 CANONICAL=O14917-1"
            },
            "locus": {
                "chromosome": "13",
                "start_pos": 57725291,
                "end_pos": 57634383,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000612954.4",
                        "url": "https://www.ensembl.org/id/ENST00000612954.4"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000481329.1",
                        "url": "https://www.ensembl.org/id/ENSP00000481329.1"
                    }
                ]
            }
        },
        {
            "isoform_ac": "A0A087X099-1",
            "url": "",
            "sequence": {
                "sequence": "LTVPQGHAGCHTSFTGQGTNASETPATRMSIIQTDNFPAEPNYMGSRQQFVQSSSTFKDPERASLRDSGHGDSDQADSDQDTNKGSCCDMSVREALKMKTTSTKSQPLEQAFPTLLSFAILTLHTITSRLQSVDLLPPEPEECVNCTDECRVLGHSDRCWMPQFPAANQAENADYRTNLFVPTV",
                "length": 184,
                "header": "tr|A0A087X099-1|PCD17_HUMAN Computationally mapped isoform of Protocadherin-17  OS=Homo sapiens OX=9606 GN=PCDH17 PE=1 SV=1 CANONICAL=O14917-1"
            },
            "locus": {
                "chromosome": "13",
                "start_pos": 57724748,
                "end_pos": 57635013,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000615375.1",
                        "url": "https://www.ensembl.org/id/ENST00000615375.1"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000483215.1",
                        "url": "https://www.ensembl.org/id/ENSP00000483215.1"
                    }
                ]
            }
        },
        {
            "isoform_ac": "O14917-1",
            "url": "",
            "sequence": {
                "sequence": "MYLSICCCFLLWAPALTLKNLNYSVPEEQGAGTVIGNIGRDARLQPGLPPAERGGGGRSKSGSYRVLENSAPHLLDVDADSGLLYTKQRIDRESLCRHNAKCQLSLEVFANDKEICMIKVEIQDINDNAPSFSSDQIEMDISENAAPGTRFPLTSAHDPDAGENGLRTYLLTRDDHGLFGLDVKSRGDGTKFPELVIQKALDREQQNHHTLVLTALDGGEPPRSATVQINVKVIDSNDNSPVFEAPSYLVELPENAPLGTVVIDLNATDADEGPNGEVLYSFSSYVPDRVRELFSIDPKTGLIRVKGNLDYEENGMLEIDVQARDLGPNPIPAHCKVTVKLIDRNDNAPSIGFVSVRQGALSEAAPPGTVIALVRVTDRDSGKNGQLQCRVLGGGGTGGGGGLGGPGGSVPFKLEENYDNFYTVVTDRPLDRETQDEYNVTIVARDGGSPPLNSTKSFAIKILDENDNPPRFTKGLYVLQVHENNIPGEYLGSVLAQDPDLGQNGTVSYSILPSHIGDVSIYTYVSVNPTNGAIYALRSFNFEQTKAFEFKVLAKDSGAPAHLESNATVRVTVLDVNDNAPVIVLPTLQNDTAELQVPRNAGLGYLVSTVRALDSDFGESGRLTYEIVDGNDDHLFEIDPSSGEIRTLHPFWEDVTPVVELVVKVTDHGKPTLSAVAKLIIRSVSGSLPEGVPRVNGEQHHWDMSLPLIVTLSTISIILLAAMITIAVKCKRENKEIRTYNCRIAEYSHPQLGGGKGKKKKINKNDIMLVQSEVEERNAMNVMNVVSSPSLATSPMYFDYQTRLPLSSPRSEVMYLKPASNNLTVPQGHAGCHTSFTGQGTNASETPATRMSIIQTDNFPAEPNYMGSRQQFVQSSSTFKDPERASLRDSGHGDSDQADSDQDTNKGSCCDMSVREALKMKTTSTKSQPLEQEPEECVNCTDECRVLGHSDRCWMPQFPAANQAENADYRTNLFVPTVEANVETETYETVNPTGKKTFCTFGKDKREHTILIANVKPYLKAKRALSPLLQEVPSASSSPTKACIEPCTSTKGSLDGCEAKPGALAEASSQYLPTDSQYLSPSKQPRDPPFMASDQMARVFADVHSRASRDSSEMGAVLEQLDHPNRDLGRESVDAEEVVREIDKLLQDCRGNDPVAVRK",
                "length": 1159,
                "header": "sp|O14917-1|PCD17_HUMAN Isoform 1 of Protocadherin-17  OS=Homo sapiens OX=9606 GN=PCDH17 PE=1 SV=2 CANONICAL=O14917-1"
            },
            "locus": {
                "chromosome": "13",
                "start_pos": 57725291,
                "end_pos": 57632547,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000377918.8",
                        "url": "https://www.ensembl.org/id/ENST00000377918.8"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000367151.3",
                        "url": "https://www.ensembl.org/id/ENSP00000367151.3"
                    }
                ]
            }
        },
        {
            "isoform_ac": "O14917-2",
            "url": "",
            "sequence": {
                "sequence": "MYLSICCCFLLWAPALTLKNLNYSVPEEQGAGTVIGNIGRDARLQPGLPPAERGGGGRSKSGSYRVLENSAPHLLDVDADSGLLYTKQRIDRESLCRHNAKCQLSLEVFANDKEICMIKVEIQDINDNAPSFSSDQIEMDISENAAPGTRFPLTSAHDPDAGENGLRTYLLTRDDHGLFGLDVKSRGDGTKFPELVIQKALDREQQNHHTLVLTALDGGEPPRSATVQINVKVIDSNDNSPVFEAPSYLVELPENAPLGTVVIDLNATDADEGPNGEVLYSFSSYVPDRVRELFSIDPKTGLIRVKGNLDYEENGMLEIDVQARDLGPNPIPAHCKVTVKLIDRNDNAPSIGFVSVRQGALSEAAPPGTVIALVRVTDRDSGKNGQLQCRVLGGGGTGGGGGLGGPGGSVPFKLEENYDNFYTVVTDRPLDRETQDEYNVTIVARDGGSPPLNSTKSFAIKILDENDNPPRFTKGLYVLQVHENNIPGEYLGSVLAQDPDLGQNGTVSYSILPSHIGDVSIYTYVSVNPTNGAIYALRSFNFEQTKAFEFKVLAKDSGAPAHLESNATVRVTVLDVNDNAPVIVLPTLQNDTAELQVPRNAGLGYLVSTVRALDSDFGESGRLTYEIVDGNDDHLFEIDPSSGEIRTLHPFWEDVTPVVELVVKVTDHGKPTLSAVAKLIIRSVSGSLPEGVPRVNGEQHHWDMSLPLIVTLSTISIILLAAMITIAVKCKRENKEIRTYNCRIAEYSHPQLGGGKGKKKKINKNDIMLVQSEVEERNAMNVMNVVSSPSLATSPMYFDYQTRLPLSSPRSEVMYLKPASNNLTVPQGHAGCHTSFTGQGTNASETPATRMSIIQTDNFPAEPNYMGSRQQFVQSISVAPRLRTQKEPA",
                "length": 889,
                "header": "sp|O14917-2|PCD17_HUMAN Isoform 2 of Protocadherin-17  OS=Homo sapiens OX=9606 GN=PCDH17 PE=1 SV=2 CANONICAL=O14917-1"
            },
            "locus": {
                "chromosome": "13",
                "start_pos": 57666695,
                "end_pos": 57632547,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000484979.5",
                        "url": "https://www.ensembl.org/id/ENST00000484979.5"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000432899.1",
                        "url": "https://www.ensembl.org/id/ENSP00000432899.1"
                    }
                ]
            }
        }
    ],
    "glycosylation": [
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
            "site_category": "predicted",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 22,
            "start_aa": "Asn",
            "end_pos": 22,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn22",
            "evidence": [
                {
                    "id": "O14917",
                    "database": "UniProtKB",
                    "url": "https://www.uniprot.org/uniprot/O14917#ptm_processing"
                }
            ]
        },
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
            "site_category": "predicted",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 266,
            "start_aa": "Asn",
            "end_pos": 266,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn266",
            "evidence": [
                {
                    "id": "O14917",
                    "database": "UniProtKB",
                    "url": "https://www.uniprot.org/uniprot/O14917#ptm_processing"
                }
            ]
        },
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
            "site_category": "predicted",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 439,
            "start_aa": "Asn",
            "end_pos": 439,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn439",
            "evidence": [
                {
                    "id": "O14917",
                    "database": "UniProtKB",
                    "url": "https://www.uniprot.org/uniprot/O14917#ptm_processing"
                }
            ]
        },
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
            "site_category": "predicted",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 453,
            "start_aa": "Asn",
            "end_pos": 453,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn453",
            "evidence": [
                {
                    "id": "O14917",
                    "database": "UniProtKB",
                    "url": "https://www.uniprot.org/uniprot/O14917#ptm_processing"
                }
            ]
        },
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
            "site_category": "predicted",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 504,
            "start_aa": "Asn",
            "end_pos": 504,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn504",
            "evidence": [
                {
                    "id": "O14917",
                    "database": "UniProtKB",
                    "url": "https://www.uniprot.org/uniprot/O14917#ptm_processing"
                }
            ]
        },
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
            "site_category": "reported",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 566,
            "start_aa": "Asn",
            "end_pos": 566,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn566",
            "evidence": [
                {
                    "id": "O14917",
                    "database": "UniProtKB",
                    "url": "https://www.uniprot.org/uniprot/O14917#ptm_processing"
                },
                {
                    "id": "23090970",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/23090970"
                },
                {
                    "id": "GLY_000143",
                    "database": "GlyGen",
                    "url": "https://data.glygen.org/GLY_000143"
                },
                {
                    "id": "24190977",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/24190977"
                }
            ]
        },
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
            "site_category": "predicted",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 590,
            "start_aa": "Asn",
            "end_pos": 590,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn590",
            "evidence": [
                {
                    "id": "O14917",
                    "database": "UniProtKB",
                    "url": "https://www.uniprot.org/uniprot/O14917#ptm_processing"
                }
            ]
        }
    ],
    "phosphorylation": [],
    "glycation": [],
    "keywords": [
        "glycoprotein",
        "glycoprotein_reported",
        "glycoprotein_predicted"
    ],
    "publication": [
        {
            "title": "Genome-wide analyses of human perisylvian cerebral cortical patterning.",
            "journal": "Proc. Natl. Acad. Sci. U.S.A.",
            "date": "2007",
            "authors": "Abrahams B S, Tentler D, Perederiy J V, Oldham M C, Coppola G, Geschwind D H",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O14917",
                    "url": "https://www.uniprot.org/uniprot/O14917"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "17978184",
                    "url": "https://glygen.org/publication/PubMed/17978184"
                }
            ]
        },
        {
            "title": "Integrated genomic analyses of ovarian carcinoma.",
            "journal": "Nature",
            "date": "2011",
            "authors": "Bell D, Berchuck A, Birrer M, Chien J, Cramer D, Dao F, Dhir R, DiSaia P, Gabra H, Glenn P, Godwin A, Gross J, Hartmann L, Huang M, Huntsman D, Iacocca M, Imielinski M, Kalloger S, Karlan B, Levine D, Mills G, Morrison C, Mutch D, Olvera N, Orsulic S, Park K, Petrelli N, Rabeno B, Rader J, Sikic B, Smith-McCune K, Sood A, Bowtell D, Penny R, Testa J, Chang K, Dinh H, Drummond J, Fowler G, Gunaratne P, Hawes A, Kovar C, Lewis L, Morgan M, Newsham I, Santibanez J, Reid J, Trevino L, Wu Y-, Wang M, Muzny D, Wheeler D, Gibbs R, Getz G, Lawrence M, Cibulskis K, Sivachenko A, Sougnez C, Voet D, Wilkinson J, Bloom T, Ardlie K, Fennell T, Baldwin J, Gabriel S, Lander E, Ding LL, Fulton R, Koboldt D, McLellan M, Wylie T, Walker J, O'Laughlin M, Dooling D, Fulton L, Abbott R, Dees N, Zhang Q, Kandoth C, Wendl M, Schierding W, Shen D, Harris C, Schmidt H, Kalicki J, Delehaunty K, Fronick C, Demeter R, Cook L, Wallis J, Lin L, Magrini V, Hodges J, Eldred J, Smith S, Pohl C, Vandin F, Raphael B, Weinstock G, Mardis E, Wilson R, Meyerson M, Winckler W, Getz G, Verhaak R, Carter S, Mermel C, Saksena G, Nguyen H, Onofrio R, Lawrence M, Hubbard D, Gupta S, Crenshaw A, Ramos A, Ardlie K, Chin L, Protopopov A, Zhang J, Kim T, Perna I, Xiao Y, Zhang H, Ren G, Sathiamoorthy N, Park R, Lee E, Park P, Kucherlapati R, Absher M, Waite L, Sherlock G, Brooks J, Li J, Xu J, Myers R, Laird PW, Cope L, Herman J, Shen H, Weisenberger D, Noushmehr H, Pan F, Triche T Jr, Berman B, Van Den Berg D, Buckley J, Baylin S, Spellman P, Purdom E, Neuvial P, Bengtsson H, Jakkula L, Durinck S, Han J, Dorton S, Marr H, Choi Y, Wang V, Wang N, Ngai J, Conboy J, Parvin B, Feiler H, Speed T, Gray J, Levine A, Socci N, Liang Y, Taylor B, Schultz N, Borsu L, Lash A, Brennan C, Viale A, Sander C, Ladanyi M, Hoadley K, Meng S, Du Y, Shi Y, Li L, Turman Y, Zang D, Helms E, Balu S, Zhou X, Wu J, Topal M, Hayes D, Perou C, Getz G, Voet D, Saksena G, Zhang J, Zhang H, Wu C, Shukla S, Cibulskis K, Lawrence M, Sivachenko A, Jing R, Park R, Liu Y, Park P, Noble M, Chin L, Carter H, Kim D, Karchin R, Spellman P, Purdom E, Neuvial P, Bengtsson H, Durinck S, Han J, Korkola J, Heiser L, Cho R, Hu Z, Parvin B, Speed T, Gray J, Schultz N, Cerami E, Taylor B, Olshen A, Reva B, Antipin Y, Shen R, Mankoo P, Sheridan R, Ciriello G, Chang W, Bernanke J, Borsu L, Levine D, Ladanyi M, Sander C, Haussler D, Benz C, Stuart J, Benz S, Sanborn J, Vaske C, Zhu J, Szeto C, Scott G, Yau C, Hoadley K, Du Y, Balu S, Hayes D, Perou C, Wilkerson M, Zhang N, Akbani R, Baggerly K, Yung W, Mills G, Weinstein J, Penny R, Shelton T, Grimm D, Hatfield M, Morris S, Yena P, Rhodes P, Sherman M, Paulauskis J, Millis S, Kahn A, Greene J, Sfeir R, Jensen M, Chen J, Whitmore J, Alonso S, Jordan J, Chu A, Zhang J, Barker A, Compton C, Eley G, Ferguson M, Fielding P, Gerhard D, Myles R, Schaefer C, Mills Shaw K, Vaught J, Vockley J, Good P, Guyer M, Ozenberger B, Peterson J, Thomson E",
            "evidence": [
                {
                    "database": "dbSNP",
                    "id": "rs1466552019",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1466552019"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "21720365",
                    "url": "https://glygen.org/publication/PubMed/21720365"
                }
            ]
        },
        {
            "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.",
            "journal": "Molecular & cellular proteomics : MCP",
            "date": "2013",
            "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M",
            "evidence": [
                {
                    "database": "GlyGen",
                    "id": "GLY_000143",
                    "url": "https://data.glygen.org/GLY_000143"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "23090970",
                    "url": "https://glygen.org/publication/PubMed/23090970"
                }
            ]
        },
        {
            "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.",
            "journal": "Molecular & cellular proteomics : MCP",
            "date": "2014",
            "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M",
            "evidence": [
                {
                    "database": "GlyGen",
                    "id": "GLY_000143",
                    "url": "https://data.glygen.org/GLY_000143"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "24190977",
                    "url": "https://glygen.org/publication/PubMed/24190977"
                }
            ]
        },
        {
            "title": "Reduced protocadherin17 expression in leukemia stem cells: the clinical and biological effect in acute myeloid leukemia.",
            "journal": "Journal of translational medicine",
            "date": "2019",
            "authors": "Xu ZJ, Ma JC, Zhou JD, Wen XM, Yao DM, Zhang W, Ji RB, Wu DH, Tang LJ, Deng ZQ, Qian J, Lin J",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001035519",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035519"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "30922328",
                    "url": "https://glygen.org/publication/PubMed/30922328"
                }
            ]
        },
        {
            "title": "MiR-23a-3p promoted G1/S cell cycle transition by targeting protocadherin17 in hepatocellular carcinoma.",
            "journal": "Journal of physiology and biochemistry",
            "date": "2020",
            "authors": "Xiang Y, Yang Y, Lin C, Wu J, Zhang X",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001035519",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035519"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "31994011",
                    "url": "https://glygen.org/publication/PubMed/31994011"
                }
            ]
        },
        {
            "title": "Repression of protocadherin 17 is correlated with elevated angiogenesis and hypoxia markers in female patients with breast cancer.",
            "journal": "Cancer biomarkers : section A of Disease markers",
            "date": "2021",
            "authors": "El-Benhawy SA, Ebeid SA, Abd El Moneim NA, Arab ARR, Ramadan R",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001035519",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035519"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "33896826",
                    "url": "https://glygen.org/publication/PubMed/33896826"
                }
            ]
        },
        {
            "title": "PCDH17 gene promoter methylation status in a cohort of Egyptian women with epithelial ovarian cancer.",
            "journal": "BMC cancer",
            "date": "2023-01-25",
            "authors": "Elsharkawi Sherif Mohamed, Elkaffash Dalal, Moez Pacint, El-Etreby Nour, Sheta Eman, Taleb Raghda Saad Zaghloul",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001035519",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035519"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "36698136",
                    "url": "https://glygen.org/publication/PubMed/36698136"
                }
            ]
        }
    ],
    "pathway": [
        {
            "id": "hsa:27253",
            "name": "",
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:27253",
            "resource": "KEGG Pathway"
        }
    ],
    "orthologs": [
        {
            "uniprot_canonical_ac": "D3ZPN0-1",
            "protein_name": "Protocadherin 17",
            "gene_name": "Pcdh17",
            "tax_id": 10116,
            "organism": "Rattus norvegicus",
            "sequence": {
                "sequence": "MYLSICCCFLLWAPALTLKNLNYSVPEEQGAGTVIGNIGKDARLQPGLPPAERGSGSGRSKSGSYRVLENSAPHLLDVDADSGLLYTKQRIDRESLCRHNAKCQLSLEVFANDKEICMIKVEIQDINDNAPSFPSDQIEMDISENAAPGTRFPLTSAHDPDAGENGLRTYLLTRDDHGLFALDVKSRGDGTKFPELVIQKALDRELQNHHTLVLTALDGGEPPRSATVQINVKVIDSNDNSPVFEAPSYLVELPENAPLGTVVIDLNATDADEGPNGEVLYSFSSYVPDRVRELFSIDPKTGLIRVKGNLDYEENGMLEIDVQARDLGPNPIPAHCKVTVKLIDRNDNAPSIGFVSVRQGALSEAAPPGTVIALVRVTDRDSGKNGQLQCRVLGGGGTGGGGGLGGPGSVPFKLEENYDNFYTVVTDRPLDRETQDEYNVTIVARDGGSPPLNSTKSFAVKILDENDNPPRFTKGLYVLQVHENNIPGEYLGSVLAQDPDLGQNGTVSYSILPSHIGDVSIYTYVSVNPTNGAIYALRSFNYEQTKAFEFKVLAKDSGAPAHLESNATVRVTVLDVNDNAPVIVLPTLQNDTAELQVPRNAGLGYLVSTVRALDSDFGESGRLTYEIVDGNDDHLFEIDPSSGEIRTLHPFWEDVTPVVELVVKVTDHGKPTLSAVAKLIIRSVSGSLPEGVPRVNGEQHHWDMSLPLIVTLSTISIILLAAMITIAVKCKRENKEIRTYNCRIAEYSHPQLGGGKGKKKKINKNDIMLVQSEVEERNAMNVMNVVSSPSLATSPMYFDYQTRLPLSSPRSEVMYLKPASNNLTVPQGHAGCHSSFTGQGTNSSETPATRMSIIQTDNFPAEPNYMGSRQQFVQSSSTFKDPERASLRDSGHGDSDQADSDQDTNKGSCCDMSVREALKMKTTSTKSQPLEQEPEECINCTDECRVLGHSDRCWMPQFPAANQAENADYRTNLFVPTVEANVETETYETVNPTGKKTFCTFGKDKREHTILIANVKPYLKAKRALSPLLQEVPSASSSPTKACIEPCASTKGSLDGCEAKAGALAEASSSYLPTDSQYPSPSKQPRDPSFMASEQMARVFADVHSRASRDSSEMGAVLEQLDHPNRDLGRESVDAEEVVREIDKLLQDCRGNDPVAVRKNNNGFDQTYIRTELMKLKEKGEKKEREREREEIGEKKKEDETSYLLTIC",
                "length": 1208
            },
            "evidence": [
                {
                    "id": "45922494",
                    "url": "http://www.informatics.jax.org/homology/45922494",
                    "database": "MGI"
                },
                {
                    "id": "O14917",
                    "url": "https://omabrowser.org/oma/group/O14917/",
                    "database": "OMA"
                }
            ],
            "common_name": "Rat"
        },
        {
            "uniprot_canonical_ac": "E9PXF0-1",
            "protein_name": "Protocadherin 17",
            "gene_name": "Pcdh17",
            "tax_id": 10090,
            "organism": "Mus musculus",
            "sequence": {
                "sequence": "MYLSICCCFLLWAPALTLKNLNYSVPEEQGAGTVIGNIGKDARLQPGLPPAERGSGSGRSKSGSYRVLENSAPHLLDVDADSGLLYTKQRIDRESLCRHNAKCQLSLEVFANDKEICMIKVEIQDINDNAPSFPSDQIEMDISENAAPGTRFPLTSAHDPDAGENGLRTYLLTRDDHGLFALDVKSRGDGTKFPELVIQKALDRELQNHHTLVLTALDGGEPPRSATVQINVKVIDSNDNSPVFEAPSYLVELPENAPLGTVVIDLNATDADEGPNGEVLYSFSSYVPDRVRELFSIDPKTGLIRVKGNLDYEENGMLEIDVQARDLGPNPIPAHCKVTVKLIDRNDNAPSIGFVSVRQGALSEAAPPGTVIALVRVTDRDSGKNGQLQCRVLGGGGTGGGLGGPGSVPFKLEENYDNFYTVVTDRPLDRETQDEYNVTIVARDGGSPPLNSTKSFAVKILDENDNPPRFTKGLYVLQVHENNIPGEYLGSVLAQDPDLGQNGTVSYSILPSHIGDVSIYTYVSVNPTNGAIYALRSFNYEQTKAFEFKVLAKDSGAPAHLESNATVRVTVLDVNDNAPVIVLPTLQNDTAELQVPRNAGLGYLVSTVRALDSDFGESGRLTYEIVDGNDDHLFEIDPSSGEIRTLHPFWEDVTPVVELVVKVTDHGKPTLSAVAKLIIRSVSGSLPEGVPRVNGEQHHWDMSLPLIVTLSTISIILLAAMITIAVKCKRENKEIRTYNCRIAEYSHPQLGGGKGKKKKINKNDIMLVQSEVEERNAMNVMNVVSSPSLATSPMYFDYQTRLPLSSPRSEVMYLKPASNNLTVPQGHAGCHTSFTGQGTNSSETPATRMSIIQTDNFPAEPNYMGSRQQFVQSSSTFKDPERASLRDSGHGDSDQADSDQDTNKGSCCDMSVREALKMKTTSTKSQPLEQEPEECINCTDECRVLGHSDRCWMPQFPAANQAENADYRTNLFVPTVEANVETETYETVNPTGKKTFCTFGKDKREHTILIANVKPYLKAKRALSPLLQEVPSASSSPTKACIEPCASTKGSLDGCEAKPGPLAEASSSYLPTDSQYPSPSKQPRDPSFMASDQMARVFADVHSRARRASSEMGAVLEQLEQPNRDLGRESVDAEEVVREIDKLLQDCRGNDPVAVRK",
                "length": 1157
            },
            "evidence": [
                {
                    "id": "45922494",
                    "url": "http://www.informatics.jax.org/homology/45922494",
                    "database": "MGI"
                },
                {
                    "id": "O14917",
                    "url": "https://omabrowser.org/oma/group/O14917/",
                    "database": "OMA"
                }
            ],
            "common_name": "Mouse"
        }
    ],
    "go_annotation": {
        "categories": [
            {
                "name": "Cellular Component",
                "total": 5,
                "go_terms": [
                    {
                        "name": "membrane",
                        "id": "GO:0016020",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O14917",
                                "url": "https://www.uniprot.org/uniprot/O14917"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "glutamatergic synapse",
                        "id": "GO:0098978",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O14917",
                                "url": "https://www.uniprot.org/uniprot/O14917"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "GABA-ergic synapse",
                        "id": "GO:0098982",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O14917",
                                "url": "https://www.uniprot.org/uniprot/O14917"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "postsynaptic membrane",
                        "id": "GO:0045211",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O14917",
                                "url": "https://www.uniprot.org/uniprot/O14917"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "presynaptic membrane",
                        "id": "GO:0042734",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O14917",
                                "url": "https://www.uniprot.org/uniprot/O14917"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            },
            {
                "name": "Molecular Function",
                "total": 1,
                "go_terms": [
                    {
                        "name": "calcium ion binding",
                        "id": "GO:0005509",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O14917",
                                "url": "https://www.uniprot.org/uniprot/O14917"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            },
            {
                "name": "Biological Process",
                "total": 7,
                "go_terms": [
                    {
                        "name": "homophilic cell adhesion via plasma membrane adhesion molecules",
                        "id": "GO:0007156",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O14917",
                                "url": "https://www.uniprot.org/uniprot/O14917"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "cell adhesion",
                        "id": "GO:0007155",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O14917",
                                "url": "https://www.uniprot.org/uniprot/O14917"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "adult behavior",
                        "id": "GO:0030534",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030534",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O14917",
                                "url": "https://www.uniprot.org/uniprot/O14917"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "negative regulation of synaptic transmission",
                        "id": "GO:0050805",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050805",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O14917",
                                "url": "https://www.uniprot.org/uniprot/O14917"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "synaptic membrane adhesion",
                        "id": "GO:0099560",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099560",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O14917",
                                "url": "https://www.uniprot.org/uniprot/O14917"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "presynaptic active zone assembly",
                        "id": "GO:1904071",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904071",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O14917",
                                "url": "https://www.uniprot.org/uniprot/O14917"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "regulation of synaptic vesicle clustering",
                        "id": "GO:2000807",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000807",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O14917",
                                "url": "https://www.uniprot.org/uniprot/O14917"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            }
        ]
    },
    "pro_annotation": [],
    "site_annotation": [
        {
            "start_pos": 22,
            "end_pos": 24,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 266,
            "end_pos": 268,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 439,
            "end_pos": 441,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 453,
            "end_pos": 455,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 504,
            "end_pos": 506,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 566,
            "end_pos": 568,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 590,
            "end_pos": 592,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 822,
            "end_pos": 824,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 842,
            "end_pos": 844,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 939,
            "end_pos": 941,
            "annotation": "n_glycosylation_sequon"
        }
    ],
    "ptm_annotation": [],
    "interactions": [],
    "reactions": [],
    "reaction_participants": [],
    "reaction_enzymes": [],
    "biomarkers": [],
    "synthesized_glycans": [],
    "cluster_types": [
        {
            "name": "isoformset.uniprotkb",
            "label": "Isoforms"
        },
        {
            "name": "homologset.mgi",
            "label": "MGI Homologs"
        },
        {
            "name": "homologset.oma",
            "label": "OMA Homologs"
        }
    ],
    "sequence_features": {
        "n_linked_sites": [
            22,
            266,
            439,
            453,
            504,
            566,
            590
        ],
        "o_linked_sites": [],
        "snv_sites": [
            22,
            24,
            39,
            49,
            146,
            238,
            370,
            453,
            518,
            529,
            568,
            592,
            685,
            703,
            705,
            767,
            860,
            866,
            964,
            974,
            984,
            987,
            988,
            992,
            1051,
            1074,
            1110,
            1154
        ],
        "glycation_sites": [],
        "phosphorylation_sites": [],
        "sequon_annotation_sites": [
            {
                "start_pos": 22,
                "end_pos": 24
            },
            {
                "start_pos": 266,
                "end_pos": 268
            },
            {
                "start_pos": 439,
                "end_pos": 441
            },
            {
                "start_pos": 453,
                "end_pos": 455
            },
            {
                "start_pos": 504,
                "end_pos": 506
            },
            {
                "start_pos": 566,
                "end_pos": 568
            },
            {
                "start_pos": 590,
                "end_pos": 592
            },
            {
                "start_pos": 822,
                "end_pos": 824
            },
            {
                "start_pos": 842,
                "end_pos": 844
            },
            {
                "start_pos": 939,
                "end_pos": 941
            }
        ]
    },
    "section_stats": [
        {
            "table_id": "glycosylation",
            "table_stats": [
                {
                    "field": "total",
                    "count": 7
                },
                {
                    "field": "total_sites",
                    "count": 7
                },
                {
                    "field": "n_linked_glycans",
                    "count": 0
                },
                {
                    "field": "n_linked_glycan_sites",
                    "count": 7
                },
                {
                    "field": "o_linked_glycans",
                    "count": 0
                },
                {
                    "field": "o_linked_glycan_sites",
                    "count": 0
                }
            ],
            "sort_fields": [
                "glytoucan_ac",
                "type",
                "subtype",
                "site_category",
                "site_seq",
                "relation",
                "comment",
                "start_pos",
                "start_aa",
                "end_pos",
                "end_aa",
                "residue",
                "site_lbl"
            ]
        },
        {
            "table_id": "glycosylation_reported",
            "table_stats": [
                {
                    "field": "total",
                    "count": 1
                },
                {
                    "field": "total_sites",
                    "count": 1
                },
                {
                    "field": "n_linked_glycans",
                    "count": 0
                },
                {
                    "field": "n_linked_glycan_sites",
                    "count": 1
                },
                {
                    "field": "o_linked_glycans",
                    "count": 0
                },
                {
                    "field": "o_linked_glycan_sites",
                    "count": 0
                }
            ],
            "sort_fields": [
                "glytoucan_ac",
                "type",
                "subtype",
                "site_category",
                "site_seq",
                "relation",
                "comment",
                "start_pos",
                "start_aa",
                "end_pos",
                "end_aa",
                "residue",
                "site_lbl"
            ]
        },
        {
            "table_id": "glycosylation_reported_with_glycan",
            "table_stats": [
                {
                    "field": "total",
                    "count": 0
                },
                {
                    "field": "total_sites",
                    "count": 0
                },
                {
                    "field": "n_linked_glycans",
                    "count": 0
                },
                {
                    "field": "n_linked_glycan_sites",
                    "count": 0
                },
                {
                    "field": "o_linked_glycans",
                    "count": 0
                },
                {
                    "field": "o_linked_glycan_sites",
                    "count": 0
                }
            ],
            "sort_fields": []
        },
        {
            "table_id": "glycosylation_predicted",
            "table_stats": [
                {
                    "field": "total",
                    "count": 6
                },
                {
                    "field": "total_sites",
                    "count": 6
                },
                {
                    "field": "n_linked_glycans",
                    "count": 0
                },
                {
                    "field": "n_linked_glycan_sites",
                    "count": 6
                },
                {
                    "field": "o_linked_glycans",
                    "count": 0
                },
                {
                    "field": "o_linked_glycan_sites",
                    "count": 0
                }
            ],
            "sort_fields": [
                "glytoucan_ac",
                "type",
                "subtype",
                "site_category",
                "site_seq",
                "relation",
                "comment",
                "start_pos",
                "start_aa",
                "end_pos",
                "end_aa",
                "residue",
                "site_lbl"
            ]
        },
        {
            "table_id": "glycosylation_automatic_literature_mining",
            "table_stats": [
                {
                    "field": "total",
                    "count": 0
                },
                {
                    "field": "total_sites",
                    "count": 0
                },
                {
                    "field": "n_linked_glycans",
                    "count": 0
                },
                {
                    "field": "n_linked_glycan_sites",
                    "count": 0
                },
                {
                    "field": "o_linked_glycans",
                    "count": 0
                },
                {
                    "field": "o_linked_glycan_sites",
                    "count": 0
                }
            ],
            "sort_fields": []
        },
        {
            "table_id": "phosphorylation",
            "table_stats": [
                {
                    "field": "total",
                    "count": 0
                },
                {
                    "field": "total_sites",
                    "count": 0
                }
            ],
            "sort_fields": []
        },
        {
            "table_id": "snv",
            "table_stats": [
                {
                    "field": "total",
                    "count": 35
                },
                {
                    "field": "total_sites",
                    "count": 28
                }
            ],
            "sort_fields": [
                "start_pos",
                "end_pos",
                "subjects_tested",
                "subjects_positive",
                "frequency",
                "sequence_org",
                "sequence_mut",
                "comment",
                "chr_id",
                "chr_pos",
                "ref_nt",
                "alt_nt",
                "minor_allelic_frequency",
                "site_lbl"
            ]
        },
        {
            "table_id": "snv_disease",
            "table_stats": [
                {
                    "field": "total",
                    "count": 17
                },
                {
                    "field": "total_sites",
                    "count": 17
                }
            ],
            "sort_fields": [
                "start_pos",
                "end_pos",
                "subjects_tested",
                "subjects_positive",
                "frequency",
                "sequence_org",
                "sequence_mut",
                "comment",
                "chr_id",
                "chr_pos",
                "ref_nt",
                "alt_nt",
                "minor_allelic_frequency",
                "site_lbl"
            ]
        },
        {
            "table_id": "snv_non_disease",
            "table_stats": [
                {
                    "field": "total",
                    "count": 18
                },
                {
                    "field": "total_sites",
                    "count": 14
                }
            ],
            "sort_fields": [
                "start_pos",
                "end_pos",
                "subjects_tested",
                "subjects_positive",
                "frequency",
                "sequence_org",
                "sequence_mut",
                "comment",
                "chr_id",
                "chr_pos",
                "ref_nt",
                "alt_nt",
                "minor_allelic_frequency",
                "site_lbl"
            ]
        },
        {
            "table_id": "publication",
            "table_stats": [
                {
                    "field": "total",
                    "count": 8
                }
            ],
            "sort_fields": [
                "title",
                "journal",
                "date",
                "authors"
            ]
        }
    ]
}
