{
    "uniprot_canonical_ac": "O75443-1",
    "uniprot_ac": "O75443",
    "uniprot_id": "TECTA_HUMAN",
    "mass": {
        "chemical_mass": 239527.0,
        "monoisotopic_mass": 239527.0
    },
    "refseq": {
        "ac": "NP_005413",
        "name": "alpha-tectorin precursor",
        "summary": "The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane.  Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008].",
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005413"
    },
    "gene_names": [
        {
            "name": "TECTA",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "https://www.uniprot.org/uniprot/O75443",
            "id": "O75443"
        },
        {
            "name": "DFNA12; DFNA8; DFNB21",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005413",
            "id": "NP_005413"
        },
        {
            "name": "TECTA",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005413",
            "id": "NP_005413"
        }
    ],
    "protein_names": [
        {
            "name": "Alpha-tectorin",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "",
            "id": "O75443"
        },
        {
            "name": "alpha-tectorin precursor",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005413",
            "id": "NP_005413"
        },
        {
            "name": "alpha-tectorin",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005413",
            "id": "NP_005413"
        }
    ],
    "function": [
        {
            "annotation": "A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_005413",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005413"
                },
                {
                    "database": "PubMed",
                    "id": "32382995",
                    "url": "https://glygen.org/publication/PubMed/32382995"
                }
            ]
        },
        {
            "annotation": "Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_005413",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005413"
                },
                {
                    "database": "PubMed",
                    "id": "35870179",
                    "url": "https://glygen.org/publication/PubMed/35870179"
                }
            ]
        },
        {
            "annotation": "Homozygous c.1893C>A mutation of the TECTA gene probably underlies the proband's hearing loss which conformed to an autosomal recessive inheritance",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_005413",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005413"
                },
                {
                    "database": "PubMed",
                    "id": "30703234",
                    "url": "https://glygen.org/publication/PubMed/30703234"
                }
            ]
        },
        {
            "annotation": "Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families. Publication Status: Online-Only",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_005413",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005413"
                },
                {
                    "database": "PubMed",
                    "id": "33976695",
                    "url": "https://glygen.org/publication/PubMed/33976695"
                }
            ]
        },
        {
            "annotation": "One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O75443",
                    "url": "https://www.uniprot.org/uniprot/O75443#function"
                }
            ]
        },
        {
            "annotation": "TECTA mutations were identified in 6.0% of mid-frequency sensorineural hearing loss cases; these mutations were more frequent in patients with shallow U-shaped audiograms than those with U-shaped audiograms, and in families which have the family histories compatible with autosomal dominant than those with the family histories compatible with sporadic or autosomal recessive. Publication Status: Online-Only",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_005413",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005413"
                },
                {
                    "database": "PubMed",
                    "id": "28946916",
                    "url": "https://glygen.org/publication/PubMed/28946916"
                }
            ]
        },
        {
            "annotation": "The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane.  Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008].",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_005413",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005413"
                }
            ]
        }
    ],
    "disease": [
        {
            "disease_id": "DOID:0110479",
            "recommended_name": {
                "id": "DOID:0110479",
                "resource": "Disease Ontology",
                "url": "http://disease-ontology.org/term/DOID:0110479",
                "name": "autosomal recessive nonsyndromic deafness 21",
                "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3."
            },
            "synonyms": [
                {
                    "id": "DOID:0110479",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0110479",
                    "name": "DFNB21",
                    "description": ""
                },
                {
                    "id": "DOID:0110479",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0110479",
                    "name": "autosomal recessive deafness 21",
                    "description": ""
                },
                {
                    "id": "MONDO:0011351",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                    "name": "autosomal recessive nonsyndromic hearing loss 21",
                    "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene."
                },
                {
                    "id": "MONDO:0011351",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                    "name": "DFNB21",
                    "description": ""
                },
                {
                    "id": "MONDO:0011351",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                    "name": "TECTA autosomal recessive nonsyndromic deafness",
                    "description": ""
                },
                {
                    "id": "MONDO:0011351",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                    "name": "autosomal recessive deafness 21",
                    "description": ""
                },
                {
                    "id": "MONDO:0011351",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                    "name": "autosomal recessive nonsyndromic deafness 21",
                    "description": ""
                },
                {
                    "id": "MONDO:0011351",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                    "name": "autosomal recessive nonsyndromic deafness caused by mutation in TECTA",
                    "description": ""
                },
                {
                    "id": "MONDO:0011351",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                    "name": "autosomal recessive nonsyndromic deafness caused by mutation in tecta",
                    "description": ""
                },
                {
                    "id": "MONDO:0011351",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                    "name": "autosomal recessive nonsyndromic deafness type 21",
                    "description": ""
                },
                {
                    "id": "MONDO:0011351",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                    "name": "deafness, autosomal recessive 21",
                    "description": ""
                },
                {
                    "id": "MONDO:0011351",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                    "name": "deafness, autosomal recessive type 21",
                    "description": ""
                },
                {
                    "id": "MONDO:0011351",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                    "name": "tecta autosomal recessive nonsyndromic deafness",
                    "description": ""
                },
                {
                    "id": "MIM:603629",
                    "resource": "MIM",
                    "url": "https://www.omim.org/entry/603629",
                    "name": "Deafness, autosomal recessive, 21",
                    "description": "Deafness, autosomal recessive, 21"
                }
            ],
            "evidence": [
                {
                    "id": "603629",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603629"
                }
            ]
        },
        {
            "disease_id": "DOID:0110544",
            "recommended_name": {
                "id": "DOID:0110544",
                "resource": "Disease Ontology",
                "url": "http://disease-ontology.org/term/DOID:0110544",
                "name": "autosomal dominant nonsyndromic deafness 12",
                "description": "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23."
            },
            "synonyms": [
                {
                    "id": "DOID:0110544",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0110544",
                    "name": "DFNA12",
                    "description": ""
                },
                {
                    "id": "DOID:0110544",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0110544",
                    "name": "DFNA8",
                    "description": ""
                },
                {
                    "id": "DOID:0110544",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0110544",
                    "name": "autosomal dominant deafness 12",
                    "description": ""
                },
                {
                    "id": "DOID:0110544",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0110544",
                    "name": "autosomal dominant deafness 8",
                    "description": ""
                },
                {
                    "id": "MONDO:0011102",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                    "name": "autosomal dominant nonsyndromic hearing loss 12",
                    "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene."
                },
                {
                    "id": "MONDO:0011102",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                    "name": "DFNA12",
                    "description": ""
                },
                {
                    "id": "MONDO:0011102",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                    "name": "DFNA8",
                    "description": ""
                },
                {
                    "id": "MONDO:0011102",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                    "name": "TECTA autosomal dominant nonsyndromic deafness",
                    "description": ""
                },
                {
                    "id": "MONDO:0011102",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                    "name": "autosomal dominant deafness 12",
                    "description": ""
                },
                {
                    "id": "MONDO:0011102",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                    "name": "autosomal dominant deafness 8",
                    "description": ""
                },
                {
                    "id": "MONDO:0011102",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                    "name": "autosomal dominant nonsyndromic deafness 12",
                    "description": ""
                },
                {
                    "id": "MONDO:0011102",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                    "name": "autosomal dominant nonsyndromic deafness caused by mutation in TECTA",
                    "description": ""
                },
                {
                    "id": "MONDO:0011102",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                    "name": "autosomal dominant nonsyndromic deafness type 12",
                    "description": ""
                },
                {
                    "id": "MONDO:0011102",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                    "name": "deafness, autosomal dominant 12",
                    "description": ""
                },
                {
                    "id": "MONDO:0011102",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                    "name": "deafness, autosomal dominant 8",
                    "description": ""
                },
                {
                    "id": "MONDO:0011102",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                    "name": "deafness, autosomal dominant 8/12",
                    "description": ""
                },
                {
                    "id": "MONDO:0011102",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                    "name": "deafness, autosomal dominant type 12",
                    "description": ""
                },
                {
                    "id": "MIM:601543",
                    "resource": "MIM",
                    "url": "https://www.omim.org/entry/601543",
                    "name": "Deafness, autosomal dominant, 12",
                    "description": "Deafness, autosomal dominant, 12"
                }
            ],
            "evidence": [
                {
                    "id": "601543",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601543"
                }
            ]
        }
    ],
    "snv": [
        {
            "evidence": [
                {
                    "id": "rs1405841035",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1405841035"
                },
                {
                    "id": "rs1405841035",
                    "database": "ENSEMBL",
                    "url": "https://www.ensembl.org/id/rs1405841035"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "n-glyco-sequon-gain"
            ],
            "start_pos": 813,
            "end_pos": 813,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->SST); n-glyco-sequon-gain (NKN->NKS).",
            "chr_id": "11",
            "chr_pos": "121129708",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N813",
            "keywords": [
                "ebi",
                "somatic"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O75443",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75443"
                },
                {
                    "id": "rs111759871",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111759871"
                },
                {
                    "id": "rs111759871",
                    "database": "1000Genomes",
                    "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs111759871"
                },
                {
                    "id": "rs111759871",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs111759871"
                },
                {
                    "id": "rs111759871",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs111759871#frequency_tab"
                },
                {
                    "id": "rs111759871",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs111759871"
                },
                {
                    "id": "22810696",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/22810696"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 815,
            "end_pos": 815,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "T",
            "sequence_mut": "M",
            "comment": "Somatic mutation passed 2 out of 6 filters: num. of cancers (3); n-glyco-sequon-loss (NST->NSM).",
            "chr_id": "11",
            "chr_pos": "121129714",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "T815",
            "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: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"
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                {
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                        "url": "http://disease-ontology.org/term/DOID:10534",
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                            "id": "DOID:10534",
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                            "description": ""
                        },
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
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                            "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",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of body of stomach",
                            "description": ""
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                        {
                            "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": ""
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                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of the stomach",
                            "description": ""
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                        {
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                            "resource": "MONDO",
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                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
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                            "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"
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                    ]
                },
                {
                    "disease_id": "DOID:0110544",
                    "recommended_name": {
                        "id": "DOID:0110544",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:0110544",
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                        "description": "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23."
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                    "synonyms": [
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "DFNA12",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "DFNA8",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "autosomal dominant deafness 12",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "autosomal dominant deafness 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic hearing loss 12",
                            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene."
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "DFNA12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "DFNA8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "TECTA autosomal dominant nonsyndromic deafness",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant deafness 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant deafness 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic deafness 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic deafness caused by mutation in TECTA",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic deafness type 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant 8/12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant type 12",
                            "description": ""
                        },
                        {
                            "id": "MIM:601543",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/601543",
                            "name": "Deafness, autosomal dominant, 12",
                            "description": "Deafness, autosomal dominant, 12"
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            ],
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                "cancer",
                "disease",
                "ebi"
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        },
        {
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                },
                {
                    "id": "rs749868343",
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                },
                {
                    "id": "rs749868343",
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                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs749868343"
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            ],
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                "o-glyco-site-loss"
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            "end_pos": 1002,
            "sequence_org": "T",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLT->NLT).",
            "chr_id": "11",
            "chr_pos": "121137484",
            "ref_nt": "A",
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            "site_lbl": "T1002",
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                "germline"
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        },
        {
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                },
                {
                    "id": "rs372562316",
                    "database": "ExAC",
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                },
                {
                    "id": "rs372562316",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs372562316"
                }
            ],
            "glycoeffect": [
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            ],
            "start_pos": 1048,
            "end_pos": 1048,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->SET).",
            "chr_id": "11",
            "chr_pos": "121137622",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N1048",
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                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1591449254",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1591449254"
                },
                {
                    "id": "rs1591449254",
                    "database": "ENSEMBL",
                    "url": "https://www.ensembl.org/id/rs1591449254"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
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            "start_pos": 1050,
            "end_pos": 1050,
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                        {
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                            "resource": "Disease Ontology",
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                        {
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                        {
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                        {
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                            "resource": "Disease Ontology",
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                        {
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                            "resource": "Disease Ontology",
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                        {
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                            "resource": "Disease Ontology",
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                {
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                {
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                        {
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                            "resource": "Disease Ontology",
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                        {
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                            "resource": "Disease Ontology",
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                        {
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                            "resource": "Disease Ontology",
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                        {
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                            "resource": "Disease Ontology",
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                        {
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                        {
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                        {
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                        {
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        {
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                    "synonyms": [
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                            "resource": "Disease Ontology",
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                        },
                        {
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                            "resource": "Disease Ontology",
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                        {
                            "id": "MONDO:0001187",
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                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
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                            "name": "tumour of the bladder",
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                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
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                        {
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                        {
                            "id": "MONDO:0001187",
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                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
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                        {
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                            "resource": "MONDO",
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                        {
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                        {
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                        {
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                        {
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                        {
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                        {
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                        {
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                        {
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                        {
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                        {
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                        {
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                        {
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                        },
                        {
                            "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": "rs145445097",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145445097"
                },
                {
                    "id": "rs145445097",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs145445097"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 1483,
            "end_pos": 1483,
            "sequence_org": "K",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KTS->NTS).",
            "chr_id": "11",
            "chr_pos": "121157984",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "K1483",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O75443",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75443"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 1510,
            "end_pos": 1510,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "A",
            "sequence_mut": "T",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NCA->NCT).",
            "chr_id": "11",
            "chr_pos": "121158063",
            "ref_nt": "G",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "A1510",
            "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": "O75443",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75443"
                },
                {
                    "id": "rs1034814653",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1034814653"
                },
                {
                    "id": "rs1034814653",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1034814653#frequency_tab"
                },
                {
                    "id": "rs1034814653",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1034814653"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 1522,
            "end_pos": 1522,
            "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 (DIS->NIS).",
            "chr_id": "11",
            "chr_pos": "121158099",
            "ref_nt": "G",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "D1522",
            "disease": [
                {
                    "disease_id": "DOID:1115",
                    "recommended_name": {
                        "id": "DOID:1115",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1115",
                        "name": "sarcoma",
                        "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1115",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1115",
                            "name": "connective and soft tissue neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1115",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1115",
                            "name": "tumor of soft tissue and skeleton",
                            "description": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease",
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1308158387",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1308158387"
                },
                {
                    "id": "rs1308158387",
                    "database": "ENSEMBL",
                    "url": "https://www.ensembl.org/id/rs1308158387"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 1538,
            "end_pos": 1538,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->SLT).",
            "chr_id": "11",
            "chr_pos": "121158148",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N1538",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs779320447",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779320447"
                },
                {
                    "id": "rs779320447",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779320447"
                },
                {
                    "id": "rs779320447",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs779320447#frequency_tab"
                },
                {
                    "id": "rs779320447",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs779320447"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 1540,
            "end_pos": 1540,
            "sequence_org": "T",
            "sequence_mut": "I",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLI).",
            "chr_id": "11",
            "chr_pos": "121158154",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T1540",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O75443",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75443"
                }
            ],
            "glycoeffect": [],
            "start_pos": 1551,
            "end_pos": 1551,
            "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 (3).",
            "chr_id": "11",
            "chr_pos": "121158186",
            "ref_nt": "G",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "E1551",
            "disease": [
                {
                    "disease_id": "DOID:1319",
                    "recommended_name": {
                        "id": "DOID:1319",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1319",
                        "name": "brain cancer",
                        "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "BT - Brain tumour",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "adult brain tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "adult malignant brain neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "brain neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "brain neoplasm, adult",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant brain tumour",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant primary brain neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant primary brain tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant tumor of Brain",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant tumor of adult brain",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "neoplasm of brain",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "primary brain neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "primary brain tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "primary malignant neoplasm of brain",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "tumor of the Brain",
                            "description": ""
                        }
                    ]
                },
                {
                    "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: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": [
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                    "id": "rs769418581",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769418581"
                },
                {
                    "id": "rs769418581",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769418581"
                },
                {
                    "id": "rs769418581",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs769418581"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
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            "end_pos": 1609,
            "sequence_org": "S",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SIS->NIS).",
            "chr_id": "11",
            "chr_pos": "121160271",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "S1609",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs770021149",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770021149"
                },
                {
                    "id": "rs770021149",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770021149"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 1714,
            "end_pos": 1714,
            "sequence_org": "Y",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YES->NES).",
            "chr_id": "11",
            "chr_pos": "121162238",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "Y1714",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1243485512",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243485512"
                },
                {
                    "id": "rs1243485512",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1243485512#frequency_tab"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 173,
            "end_pos": 173,
            "sequence_org": "D",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGS->NGS).",
            "chr_id": "11",
            "chr_pos": "121113102",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "D173",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O75443",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75443"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 1756,
            "end_pos": 1756,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "N",
            "sequence_mut": "T",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NCS->TCS).",
            "chr_id": "11",
            "chr_pos": "121162365",
            "ref_nt": "A",
            "alt_nt": "C",
            "minor_allelic_frequency": "",
            "site_lbl": "N1756",
            "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": "rs199705973",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199705973"
                },
                {
                    "id": "rs199705973",
                    "database": "1000Genomes",
                    "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199705973"
                },
                {
                    "id": "rs199705973",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs199705973"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 1758,
            "end_pos": 1758,
            "sequence_org": "S",
            "sequence_mut": "L",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->NCL).",
            "chr_id": "11",
            "chr_pos": "121165273",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "S1758",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1017796972",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1017796972"
                },
                {
                    "id": "rs1017796972",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1017796972#frequency_tab"
                },
                {
                    "id": "rs1017796972",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1017796972"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 1772,
            "end_pos": 1772,
            "sequence_org": "N",
            "sequence_mut": "K",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->KRT).",
            "chr_id": "11",
            "chr_pos": "121165316",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N1772",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs771625958",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771625958"
                },
                {
                    "id": "rs771625958",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771625958"
                },
                {
                    "id": "rs771625958",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs771625958#frequency_tab"
                },
                {
                    "id": "rs771625958",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs771625958"
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            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 1796,
            "end_pos": 1796,
            "sequence_org": "S",
            "sequence_mut": "*",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->NN*).",
            "chr_id": "11",
            "chr_pos": "121166581",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "S1796",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs771625958",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771625958"
                },
                {
                    "id": "rs771625958",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771625958"
                },
                {
                    "id": "rs771625958",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs771625958#frequency_tab"
                },
                {
                    "id": "rs771625958",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs771625958"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 1796,
            "end_pos": 1796,
            "sequence_org": "S",
            "sequence_mut": "L",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->NNL).",
            "chr_id": "11",
            "chr_pos": "121166581",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "S1796",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1410461613",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410461613"
                },
                {
                    "id": "rs1410461613",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1410461613#frequency_tab"
                },
                {
                    "id": "rs1410461613",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1410461613"
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            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 1851,
            "end_pos": 1851,
            "sequence_org": "N",
            "sequence_mut": "H",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->HNT).",
            "chr_id": "11",
            "chr_pos": "121166760",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N1851",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1591463469",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1591463469"
                },
                {
                    "id": "rs1591463469",
                    "database": "ENSEMBL",
                    "url": "https://www.ensembl.org/id/rs1591463469"
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            ],
            "glycoeffect": [
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            ],
            "start_pos": 1851,
            "end_pos": 1851,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->SNT).",
            "chr_id": "11",
            "chr_pos": "121166761",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N1851",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1415974045",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415974045"
                },
                {
                    "id": "rs1415974045",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415974045"
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            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 1853,
            "end_pos": 1853,
            "sequence_org": "T",
            "sequence_mut": "A",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->NNA).",
            "chr_id": "11",
            "chr_pos": "121166751",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T1853",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1003951217",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1003951217"
                },
                {
                    "id": "rs1003951217",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1003951217#frequency_tab"
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            ],
            "glycoeffect": [
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            ],
            "start_pos": 1864,
            "end_pos": 1864,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).",
            "chr_id": "11",
            "chr_pos": "121168058",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N1864",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs140236996",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140236996"
                },
                {
                    "id": "rs140236996",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140236996"
                },
                {
                    "id": "rs140236996",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs140236996#frequency_tab"
                },
                {
                    "id": "rs140236996",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs140236996"
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            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 1866,
            "end_pos": 1866,
            "sequence_org": "T",
            "sequence_mut": "M",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGM).",
            "chr_id": "11",
            "chr_pos": "121168064",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T1866",
            "disease": [
                {
                    "disease_id": "DOID:0110544",
                    "recommended_name": {
                        "id": "DOID:0110544",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:0110544",
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                        "description": "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23."
                    },
                    "synonyms": [
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                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "DFNA12",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "DFNA8",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "autosomal dominant deafness 12",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "autosomal dominant deafness 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic hearing loss 12",
                            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene."
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "DFNA12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "DFNA8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "TECTA autosomal dominant nonsyndromic deafness",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant deafness 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant deafness 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic deafness 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic deafness caused by mutation in TECTA",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic deafness type 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant 8/12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant type 12",
                            "description": ""
                        },
                        {
                            "id": "MIM:601543",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/601543",
                            "name": "Deafness, autosomal dominant, 12",
                            "description": "Deafness, autosomal dominant, 12"
                        }
                    ]
                },
                {
                    "disease_id": "DOID:0110479",
                    "recommended_name": {
                        "id": "DOID:0110479",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:0110479",
                        "name": "autosomal recessive nonsyndromic deafness 21",
                        "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:0110479",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110479",
                            "name": "DFNB21",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110479",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110479",
                            "name": "autosomal recessive deafness 21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "autosomal recessive nonsyndromic hearing loss 21",
                            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene."
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "DFNB21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "TECTA autosomal recessive nonsyndromic deafness",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "autosomal recessive deafness 21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "autosomal recessive nonsyndromic deafness 21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "autosomal recessive nonsyndromic deafness caused by mutation in TECTA",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "autosomal recessive nonsyndromic deafness caused by mutation in tecta",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "autosomal recessive nonsyndromic deafness type 21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "deafness, autosomal recessive 21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "deafness, autosomal recessive type 21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "tecta autosomal recessive nonsyndromic deafness",
                            "description": ""
                        },
                        {
                            "id": "MIM:603629",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/603629",
                            "name": "Deafness, autosomal recessive, 21",
                            "description": "Deafness, autosomal recessive, 21"
                        }
                    ]
                }
            ],
            "keywords": [
                "ebi",
                "germline",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs140236996",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140236996"
                },
                {
                    "id": "rs140236996",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140236996"
                },
                {
                    "id": "rs140236996",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs140236996#frequency_tab"
                },
                {
                    "id": "rs140236996",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs140236996"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 1866,
            "end_pos": 1866,
            "sequence_org": "T",
            "sequence_mut": "R",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGR).",
            "chr_id": "11",
            "chr_pos": "121168064",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T1866",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1025774976",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1025774976"
                },
                {
                    "id": "rs1025774976",
                    "database": "ENSEMBL",
                    "url": "https://www.ensembl.org/id/rs1025774976"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 187,
            "end_pos": 187,
            "sequence_org": "N",
            "sequence_mut": "D",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWT->DWT).",
            "chr_id": "11",
            "chr_pos": "121113144",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N187",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs775412692",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775412692"
                },
                {
                    "id": "rs775412692",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775412692"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 187,
            "end_pos": 187,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWT->SWT).",
            "chr_id": "11",
            "chr_pos": "121113145",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N187",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs751356645",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751356645"
                },
                {
                    "id": "rs751356645",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751356645"
                },
                {
                    "id": "rs751356645",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs751356645"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 1880,
            "end_pos": 1880,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->SNT).",
            "chr_id": "11",
            "chr_pos": "121168106",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N1880",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs754800839",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754800839"
                },
                {
                    "id": "rs754800839",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754800839"
                },
                {
                    "id": "rs754800839",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs754800839#frequency_tab"
                },
                {
                    "id": "rs754800839",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs754800839"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 1883,
            "end_pos": 1883,
            "sequence_org": "G",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTG->NTS).",
            "chr_id": "11",
            "chr_pos": "121168114",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "G1883",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O75443",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75443"
                }
            ],
            "glycoeffect": [
                "o-glyco-site-loss"
            ],
            "start_pos": 1891,
            "end_pos": 1891,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "T",
            "sequence_mut": "M",
            "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
            "chr_id": "11",
            "chr_pos": "121168139",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "T1891",
            "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: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"
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                    ]
                },
                {
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                        "resource": "Disease Ontology",
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                    "synonyms": [
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                            "resource": "Disease Ontology",
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                            "description": ""
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                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
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                            "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",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            "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",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                        {
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        {
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        },
        {
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        },
        {
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                {
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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                        "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": "rs779597120",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779597120"
                },
                {
                    "id": "rs779597120",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779597120"
                },
                {
                    "id": "rs779597120",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs779597120#frequency_tab"
                },
                {
                    "id": "rs779597120",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs779597120"
                }
            ],
            "glycoeffect": [
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                "o-glyco-site-loss"
            ],
            "start_pos": 280,
            "end_pos": 280,
            "sequence_org": "T",
            "sequence_mut": "P",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->NCP).",
            "chr_id": "11",
            "chr_pos": "121118353",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T280",
            "keywords": [
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                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O75443",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75443"
                }
            ],
            "glycoeffect": [],
            "start_pos": 303,
            "end_pos": 303,
            "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": "11",
            "chr_pos": "121118422",
            "ref_nt": "G",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "E303",
            "disease": [
                {
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                        "resource": "Disease Ontology",
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                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
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                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
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                            "description": ""
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                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
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                            "description": ""
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                        {
                            "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",
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                            "description": ""
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                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "thyroid neoplasm",
                            "description": ""
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                    ]
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                {
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                        "resource": "Disease Ontology",
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                            "resource": "Disease Ontology",
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                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
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                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
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                            "name": "melanoma and Non-melanoma skin cancer",
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                    ]
                },
                {
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                        "resource": "Disease Ontology",
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                        {
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                            "resource": "Disease Ontology",
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                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
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                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
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                        },
                        {
                            "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",
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                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
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                            "name": "malignant neoplasm of upper third esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
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                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
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                            "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",
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                            "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",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                        {
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            "description": ""
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                        {
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                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0007576",
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                        {
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                        {
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                        {
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                        {
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                        {
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                        {
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                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                        },
                        {
                            "id": "MONDO:0007576",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                            "description": ""
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                        {
                            "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",
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                            "description": ""
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            "description": ""
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                            "name": "malignant neoplasm of middle third of oesophagus",
                            "description": ""
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                        {
                            "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",
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                            "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",
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                            "description": ""
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                        {
                            "id": "MONDO:0007576",
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                            "description": ""
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            "description": ""
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                        {
                            "id": "MONDO:0007576",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
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                            "name": "malignant tumour of the middle third of the oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
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                            "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"
                        }
                    ]
                },
                {
                    "disease_id": "DOID:4362",
                    "recommended_name": {
                        "id": "DOID:4362",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:4362",
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                        "description": "A female reproductive organ cancer that is located_in the cervix."
                    },
                    "synonyms": [
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                            "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",
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                            "description": ""
                        },
                        {
                            "id": "DOID:4362",
                            "resource": "Disease Ontology",
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                            "description": ""
                        },
                        {
                            "id": "DOID:4362",
                            "resource": "Disease Ontology",
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                            "description": ""
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                        {
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                            "resource": "MONDO",
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                        {
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                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0002974",
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                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
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                        {
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                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
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                            "description": ""
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                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
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                            "description": ""
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                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0002974",
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                        {
                            "id": "MONDO:0002974",
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                            "description": ""
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                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
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                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0002974",
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                            "description": ""
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                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
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                            "description": ""
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                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
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                            "description": ""
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                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
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                        {
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                        {
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                        {
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                        {
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                            "resource": "MONDO",
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                        {
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                        {
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                        {
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                        {
                            "id": "MONDO:0002974",
                            "resource": "MONDO",
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                        },
                        {
                            "id": "MONDO:0002974",
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                        {
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                        {
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                        {
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                        {
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                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                        },
                        {
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                            "resource": "MONDO",
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                        {
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                            "resource": "MONDO",
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                        {
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                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
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                        },
                        {
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                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
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                        {
                            "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": ""
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                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            "description": ""
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                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "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",
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                        },
                        {
                            "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",
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                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "Nonsmall cell lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "alveolar cell carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MIM:211980",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/211980",
                            "name": "Lung cancer",
                            "description": "Lung cancer"
                        }
                    ]
                },
                {
                    "disease_id": "DOID: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"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
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                    "database": "dbSNP",
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                },
                {
                    "id": "rs766817801",
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                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766817801"
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                {
                    "id": "rs766817801",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs766817801"
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            ],
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            ],
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            "end_pos": 455,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->SST).",
            "chr_id": "11",
            "chr_pos": "121125462",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N455",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1591442759",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1591442759"
                },
                {
                    "id": "rs1591442759",
                    "database": "ENSEMBL",
                    "url": "https://www.ensembl.org/id/rs1591442759"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 455,
            "end_pos": 455,
            "sequence_org": "N",
            "sequence_mut": "Y",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->YST).",
            "chr_id": "11",
            "chr_pos": "121125461",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N455",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs148440178",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148440178"
                },
                {
                    "id": "rs148440178",
                    "database": "1000Genomes",
                    "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148440178"
                },
                {
                    "id": "rs148440178",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148440178"
                },
                {
                    "id": "rs148440178",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs148440178#frequency_tab"
                },
                {
                    "id": "rs148440178",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs148440178"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 457,
            "end_pos": 457,
            "sequence_org": "T",
            "sequence_mut": "I",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSI).",
            "chr_id": "11",
            "chr_pos": "121146072",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "0.001997",
            "site_lbl": "T457",
            "disease": [
                {
                    "disease_id": "DOID:0110544",
                    "recommended_name": {
                        "id": "DOID:0110544",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:0110544",
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                        "description": "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "DFNA12",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "DFNA8",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "autosomal dominant deafness 12",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "autosomal dominant deafness 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic hearing loss 12",
                            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene."
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "DFNA12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "DFNA8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "TECTA autosomal dominant nonsyndromic deafness",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant deafness 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant deafness 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic deafness 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic deafness caused by mutation in TECTA",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic deafness type 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant 8/12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant type 12",
                            "description": ""
                        },
                        {
                            "id": "MIM:601543",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/601543",
                            "name": "Deafness, autosomal dominant, 12",
                            "description": "Deafness, autosomal dominant, 12"
                        }
                    ]
                },
                {
                    "disease_id": "DOID:0110479",
                    "recommended_name": {
                        "id": "DOID:0110479",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:0110479",
                        "name": "autosomal recessive nonsyndromic deafness 21",
                        "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:0110479",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110479",
                            "name": "DFNB21",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110479",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110479",
                            "name": "autosomal recessive deafness 21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "autosomal recessive nonsyndromic hearing loss 21",
                            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene."
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "DFNB21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "TECTA autosomal recessive nonsyndromic deafness",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "autosomal recessive deafness 21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "autosomal recessive nonsyndromic deafness 21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "autosomal recessive nonsyndromic deafness caused by mutation in TECTA",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "autosomal recessive nonsyndromic deafness caused by mutation in tecta",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "autosomal recessive nonsyndromic deafness type 21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "deafness, autosomal recessive 21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "deafness, autosomal recessive type 21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "tecta autosomal recessive nonsyndromic deafness",
                            "description": ""
                        },
                        {
                            "id": "MIM:603629",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/603629",
                            "name": "Deafness, autosomal recessive, 21",
                            "description": "Deafness, autosomal recessive, 21"
                        }
                    ]
                }
            ],
            "keywords": [
                "ebi",
                "germline",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs753325981",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753325981"
                },
                {
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                "germline"
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                "germline"
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        {
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                "germline"
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        {
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                {
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            "minor_allelic_frequency": "",
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                "germline"
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        },
        {
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                        {
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                            "resource": "Disease Ontology",
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                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
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                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
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                        "resource": "Disease Ontology",
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                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
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                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
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                {
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                        {
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                            "resource": "Disease Ontology",
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                        {
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                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                        {
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                        {
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                        {
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                        {
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                        {
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                        {
                            "id": "MONDO:0011931",
                            "resource": "MONDO",
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                        },
                        {
                            "id": "MONDO:0011931",
                            "resource": "MONDO",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0011931",
                            "resource": "MONDO",
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                            "name": "ovarian cancer, susceptibility to, 1",
                            "description": ""
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                            "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",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O75443",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75443"
                },
                {
                    "id": "rs779401654",
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                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779401654"
                },
                {
                    "id": "rs779401654",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779401654"
                },
                {
                    "id": "rs779401654",
                    "database": "NCI-TCGA",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779401654"
                },
                {
                    "id": "rs779401654",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs779401654#frequency_tab"
                },
                {
                    "id": "rs779401654",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs779401654"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 562,
            "end_pos": 562,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "T",
            "sequence_mut": "M",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGT->NGM).",
            "chr_id": "11",
            "chr_pos": "121125783",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "T562",
            "disease": [
                {
                    "disease_id": "DOID:363",
                    "recommended_name": {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:363",
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                        "description": "A female reproductive organ cancer that is located_in the uterus."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
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                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
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                            "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:0110544",
                    "recommended_name": {
                        "id": "DOID:0110544",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:0110544",
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                    },
                    "synonyms": [
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "DFNA12",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "DFNA8",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "autosomal dominant deafness 12",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "autosomal dominant deafness 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic hearing loss 12",
                            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene."
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "DFNA12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "DFNA8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "TECTA autosomal dominant nonsyndromic deafness",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant deafness 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant deafness 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic deafness 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic deafness caused by mutation in TECTA",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic deafness type 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant 8/12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant type 12",
                            "description": ""
                        },
                        {
                            "id": "MIM:601543",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/601543",
                            "name": "Deafness, autosomal dominant, 12",
                            "description": "Deafness, autosomal dominant, 12"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease",
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs779401654",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779401654"
                },
                {
                    "id": "rs779401654",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779401654"
                },
                {
                    "id": "rs779401654",
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                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs779401654#frequency_tab"
                },
                {
                    "id": "rs779401654",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs779401654"
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            ],
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                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
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            "end_pos": 562,
            "sequence_org": "T",
            "sequence_mut": "R",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGR).",
            "chr_id": "11",
            "chr_pos": "121125783",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T562",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O75443",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75443"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 616,
            "end_pos": 616,
            "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 (DLT->NLT).",
            "chr_id": "11",
            "chr_pos": "121127823",
            "ref_nt": "G",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "D616",
            "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",
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                            "description": ""
                        },
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
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                            "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": "rs1565523100",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1565523100"
                },
                {
                    "id": "rs1565523100",
                    "database": "ENSEMBL",
                    "url": "https://www.ensembl.org/id/rs1565523100"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 670,
            "end_pos": 670,
            "sequence_org": "N",
            "sequence_mut": "D",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->DCT).",
            "chr_id": "11",
            "chr_pos": "121127985",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N670",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1555123952",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555123952"
                },
                {
                    "id": "rs1555123952",
                    "database": "ENSEMBL",
                    "url": "https://www.ensembl.org/id/rs1555123952"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 672,
            "end_pos": 672,
            "sequence_org": "T",
            "sequence_mut": "I",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->NCI).",
            "chr_id": "11",
            "chr_pos": "121127992",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T672",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs139165033",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139165033"
                },
                {
                    "id": "rs139165033",
                    "database": "1000Genomes",
                    "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs139165033"
                },
                {
                    "id": "rs139165033",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139165033"
                },
                {
                    "id": "rs139165033",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs139165033#frequency_tab"
                },
                {
                    "id": "rs139165033",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs139165033"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 687,
            "end_pos": 687,
            "sequence_org": "N",
            "sequence_mut": "K",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->KKT).",
            "chr_id": "11",
            "chr_pos": "121128038",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N687",
            "disease": [
                {
                    "disease_id": "DOID:0110544",
                    "recommended_name": {
                        "id": "DOID:0110544",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:0110544",
                        "name": "autosomal dominant nonsyndromic deafness 12",
                        "description": "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "DFNA12",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "DFNA8",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "autosomal dominant deafness 12",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110544",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110544",
                            "name": "autosomal dominant deafness 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic hearing loss 12",
                            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene."
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "DFNA12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "DFNA8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "TECTA autosomal dominant nonsyndromic deafness",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant deafness 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant deafness 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic deafness 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic deafness caused by mutation in TECTA",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "autosomal dominant nonsyndromic deafness type 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant 8/12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011102",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
                            "name": "deafness, autosomal dominant type 12",
                            "description": ""
                        },
                        {
                            "id": "MIM:601543",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/601543",
                            "name": "Deafness, autosomal dominant, 12",
                            "description": "Deafness, autosomal dominant, 12"
                        }
                    ]
                },
                {
                    "disease_id": "DOID:0110479",
                    "recommended_name": {
                        "id": "DOID:0110479",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:0110479",
                        "name": "autosomal recessive nonsyndromic deafness 21",
                        "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:0110479",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110479",
                            "name": "DFNB21",
                            "description": ""
                        },
                        {
                            "id": "DOID:0110479",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110479",
                            "name": "autosomal recessive deafness 21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "autosomal recessive nonsyndromic hearing loss 21",
                            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene."
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "DFNB21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "TECTA autosomal recessive nonsyndromic deafness",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "autosomal recessive deafness 21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "autosomal recessive nonsyndromic deafness 21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "autosomal recessive nonsyndromic deafness caused by mutation in TECTA",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "autosomal recessive nonsyndromic deafness caused by mutation in tecta",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "autosomal recessive nonsyndromic deafness type 21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "deafness, autosomal recessive 21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "deafness, autosomal recessive type 21",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011351",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011351",
                            "name": "tecta autosomal recessive nonsyndromic deafness",
                            "description": ""
                        },
                        {
                            "id": "MIM:603629",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/603629",
                            "name": "Deafness, autosomal recessive, 21",
                            "description": "Deafness, autosomal recessive, 21"
                        }
                    ]
                }
            ],
            "keywords": [
                "ebi",
                "germline",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1234984225",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1234984225"
                },
                {
                    "id": "rs1234984225",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1234984225"
                }
            ],
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            ],
            "start_pos": 687,
            "end_pos": 687,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->SKT).",
            "chr_id": "11",
            "chr_pos": "121128037",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N687",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O75443",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75443"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 70,
            "end_pos": 70,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "N",
            "sequence_mut": "T",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NNN->NNT).",
            "chr_id": "11",
            "chr_pos": "121109221",
            "ref_nt": "A",
            "alt_nt": "C",
            "minor_allelic_frequency": "",
            "site_lbl": "N70",
            "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",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                }
            ],
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                "cancer",
                "disease"
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        },
        {
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                },
                {
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                },
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                "germline"
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        },
        {
            "evidence": [
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                },
                {
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                {
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                "ebi",
                "germline"
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        },
        {
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                },
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                },
                {
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                "ebi",
                "germline"
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        },
        {
            "evidence": [
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                },
                {
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                    "database": "ExAC",
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                {
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                    "database": "gnomAD",
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            ],
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            "sequence_org": "N",
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            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->DAS).",
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            "ref_nt": "G",
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                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
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                },
                {
                    "id": "rs757886838",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs757886838"
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            ],
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            "sequence_org": "A",
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            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLA->NLS).",
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            "chr_pos": "121129884",
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            "minor_allelic_frequency": "",
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                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
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                    "database": "dbSNP",
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                {
                    "id": "rs1356443388",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1356443388"
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            ],
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            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->SDS).",
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            "chr_pos": "121129963",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N898",
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                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs773042999",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773042999"
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                {
                    "id": "rs773042999",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773042999"
                },
                {
                    "id": "rs773042999",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs773042999#frequency_tab"
                },
                {
                    "id": "rs773042999",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs773042999"
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            ],
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                "o-glyco-site-loss"
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            "sequence_org": "S",
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            "ref_nt": "T",
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                "ebi",
                "germline"
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        },
        {
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                {
                    "id": "rs551061901",
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                {
                    "id": "rs551061901",
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                {
                    "id": "rs551061901",
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        },
        {
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                {
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                {
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                {
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                {
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                            "resource": "Disease Ontology",
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                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
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                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
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                "ebi"
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        },
        {
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                {
                    "id": "rs750710717",
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                {
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                {
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        },
        {
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            ],
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                    "synonyms": [
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                            "resource": "Disease Ontology",
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                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
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                            "description": ""
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                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
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                            "description": ""
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                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
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                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
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                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
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                        {
                            "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."
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                        {
                            "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": ""
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                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial breast carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial cancer of breast",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial cancer of the breast",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, familial Male",
                            "description": ""
                        },
                        {
                            "id": "MIM:114480",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/114480",
                            "name": "Breast cancer",
                            "description": "Breast cancer"
                        }
                    ]
                },
                {
                    "disease_id": "DOID:1324",
                    "recommended_name": {
                        "id": "DOID:1324",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1324",
                        "name": "lung cancer",
                        "description": "A respiratory system cancer that is located_in the lung."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "LNCR1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "LNCR3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "adenocarcinoma of lung, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "LNCR4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "LNCR5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": "A malignant neoplasm involving the lung."
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "cancer of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "Nonsmall cell lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "alveolar cell carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MIM:211980",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/211980",
                            "name": "Lung cancer",
                            "description": "Lung cancer"
                        }
                    ]
                },
                {
                    "disease_id": "DOID:2531",
                    "recommended_name": {
                        "id": "DOID:2531",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:2531",
                        "name": "hematologic cancer",
                        "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "Hematologic malignancy",
                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "Hematologic neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "Hematological tumors",
                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "blood cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "hematopoietic and lymphoid system tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "hematopoietic cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "hematopoietic neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "hematopoietic tumors",
                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "malignant hematopoietic neoplasm",
                            "description": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O75443",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75443"
                }
            ],
            "glycoeffect": [],
            "start_pos": 945,
            "end_pos": 945,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "Q",
            "sequence_mut": "H",
            "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
            "chr_id": "11",
            "chr_pos": "121130105",
            "ref_nt": "G",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "Q945",
            "disease": [
                {
                    "disease_id": "DOID:1319",
                    "recommended_name": {
                        "id": "DOID:1319",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1319",
                        "name": "brain cancer",
                        "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "BT - Brain tumour",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "adult brain tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "adult malignant brain neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "brain neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "brain neoplasm, adult",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant brain tumour",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant primary brain neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant primary brain tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant tumor of Brain",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant tumor of adult brain",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "neoplasm of brain",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "primary brain neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "primary brain tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "primary malignant neoplasm of brain",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "tumor of the Brain",
                            "description": ""
                        }
                    ]
                },
                {
                    "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"
                        }
                    ]
                },
                {
                    "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"
            ]
        }
    ],
    "mutagenesis": [],
    "expression_tissue": [
        {
            "tissue": {
                "name": "Adult mammalian kidney",
                "namespace": "UBERON",
                "id": "0000082",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000082"
            },
            "score": "55.56",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000109927",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109927"
                }
            ]
        },
        {
            "tissue": {
                "name": "Oral cavity",
                "namespace": "UBERON",
                "id": "0000167",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000167"
            },
            "score": "58.63",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000109927",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109927"
                }
            ]
        },
        {
            "tissue": {
                "name": "Stomach",
                "namespace": "UBERON",
                "id": "0000945",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000945"
            },
            "score": "47.76",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000109927",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109927"
                }
            ]
        },
        {
            "tissue": {
                "name": "Uterus",
                "namespace": "UBERON",
                "id": "0000995",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000995"
            },
            "score": "49.96",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000109927",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109927"
                }
            ]
        },
        {
            "tissue": {
                "name": "Esophagus",
                "namespace": "UBERON",
                "id": "0001043",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001043"
            },
            "score": "62.71",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000109927",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109927"
                }
            ]
        },
        {
            "tissue": {
                "name": "Rectum",
                "namespace": "UBERON",
                "id": "0001052",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001052"
            },
            "score": "51.58",
            "present": "ABSENT",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000109927",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109927"
                }
            ]
        },
        {
            "tissue": {
                "name": "Colon",
                "namespace": "UBERON",
                "id": "0001155",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001155"
            },
            "score": "47.76",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000109927",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109927"
                }
            ]
        },
        {
            "tissue": {
                "name": "Urinary bladder",
                "namespace": "UBERON",
                "id": "0001255",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001255"
            },
            "score": "59.72",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000109927",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109927"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thyroid gland",
                "namespace": "UBERON",
                "id": "0002046",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002046"
            },
            "score": "62.06",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000109927",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109927"
                }
            ]
        },
        {
            "tissue": {
                "name": "Lung",
                "namespace": "UBERON",
                "id": "0002048",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002048"
            },
            "score": "47.6",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000109927",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109927"
                }
            ]
        },
        {
            "tissue": {
                "name": "Liver",
                "namespace": "UBERON",
                "id": "0002107",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002107"
            },
            "score": "55.32",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000109927",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109927"
                }
            ]
        },
        {
            "tissue": {
                "name": "Prostate gland",
                "namespace": "UBERON",
                "id": "0002367",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002367"
            },
            "score": "59.17",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000109927",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109927"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thoracic mammary gland",
                "namespace": "UBERON",
                "id": "0005200",
                "url": "http://purl.obolibrary.org/obo/UBERON_0005200"
            },
            "score": "57.95",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000109927",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109927"
                }
            ]
        }
    ],
    "expression_disease": [
        {
            "significant": "No",
            "trend": "up",
            "name": "Prostate cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:10283",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75443",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75443"
                }
            ],
            "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": "down",
            "name": "Stomach cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:10534",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75443",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75443"
                }
            ],
            "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": "Yes",
            "trend": "down",
            "name": "Urinary bladder cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:11054",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75443",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75443"
                }
            ],
            "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": "down",
            "name": "Head and neck cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:11934",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75443",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75443"
                }
            ],
            "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": "O75443",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75443"
                }
            ],
            "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": "down",
            "name": "Breast cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1612",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75443",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75443"
                }
            ],
            "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": "down",
            "name": "Thyroid cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1781",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75443",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75443"
                }
            ],
            "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": "down",
            "name": "Kidney cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:263",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75443",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75443"
                }
            ],
            "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": "down",
            "name": "Liver cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:3571",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75443",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75443"
                }
            ],
            "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": "No",
            "trend": "down",
            "name": "Uterine cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:363",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75443",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75443"
                }
            ],
            "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": "Yes",
            "trend": "down",
            "name": "Esophageal cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:5041",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O75443",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75443"
                }
            ],
            "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",
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                            "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": "O75443",
                    "url": "https://www.uniprot.org/uniprot/O75443"
                }
            ],
            "common_name": "Human"
        }
    ],
    "gene": [
        {
            "name": "TECTA",
            "url": "https://www.uniprot.org/uniprot/O75443",
            "locus": {
                "chromosome": "11",
                "start_pos": 121191490,
                "end_pos": 121101243,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Gene",
                        "id": "ENSG00000109927",
                        "url": "https://www.ensembl.org/id/ENSG00000109927"
                    }
                ]
            }
        }
    ],
    "crossref": [
        {
            "id": "ENSG00000109927",
            "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109927",
            "database": "Bgee",
            "categories": [
                "Gene Expression"
            ]
        },
        {
            "id": "O75443",
            "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75443",
            "database": "BioMuta",
            "categories": [
                "Variation"
            ]
        },
        {
            "id": "cd19941",
            "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd19941",
            "database": "CDD",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "TECTA",
            "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTA",
            "database": "GeneCards",
            "categories": [
                "Gene Annotation",
                "Organism-specific"
            ]
        },
        {
            "id": "7007",
            "url": "https://www.ncbi.nlm.nih.gov/gene/7007",
            "database": "GeneID",
            "categories": [
                "Genome Annotation"
            ]
        },
        {
            "id": "11720",
            "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11720",
            "database": "HGNC",
            "categories": [
                "Organism-specific"
            ]
        },
        {
            "id": "O75443",
            "url": "https://www.ebi.ac.uk/intact/interactors/id:O75443*",
            "database": "IntAct",
            "categories": [
                "Other"
            ]
        },
        {
            "id": "IPR000742",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR000742",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR001007",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR001007",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR001507",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR001507",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR001846",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR001846",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR002919",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR002919",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR003886",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR003886",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR014853",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR014853",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR017977",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR017977",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR025615",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR025615",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR036084",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR036084",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR042235",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR042235",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "hsa:7007",
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7007",
            "database": "KEGG Pathway",
            "categories": [
                "Enzyme and Pathway"
            ]
        },
        {
            "id": "601543",
            "url": "http://www.omim.org/entry/601543",
            "database": "MIM",
            "categories": [
                "Other"
            ]
        },
        {
            "id": "602574",
            "url": "http://www.omim.org/entry/602574",
            "database": "MIM",
            "categories": [
                "Other"
            ]
        },
        {
            "id": "603629",
            "url": "http://www.omim.org/entry/603629",
            "database": "MIM",
            "categories": [
                "Other"
            ]
        },
        {
            "id": "NX_O75443",
            "url": "https://www.nextprot.org/entry/NX_O75443",
            "database": "neXtProt",
            "categories": [
                "Protein",
                "Organism-specific"
            ]
        },
        {
            "id": "RVQTGCV",
            "url": "https://omabrowser.org/oma/group/RVQTGCV/",
            "database": "OMA",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "2872912at2759",
            "url": "http://www.orthodb.org/?query=2872912at2759",
            "database": "OrthoDB",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PTHR46160",
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46160",
            "database": "PANTHER",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PTHR46160:SF3",
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46160:SF3",
            "database": "PANTHER",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PF00094",
            "url": "http://pfam.xfam.org/family/PF00094",
            "database": "Pfam",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PF00100",
            "url": "http://pfam.xfam.org/family/PF00100",
            "database": "Pfam",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PF01826",
            "url": "http://pfam.xfam.org/family/PF01826",
            "database": "Pfam",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PF06119",
            "url": "http://pfam.xfam.org/family/PF06119",
            "database": "Pfam",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PF08742",
            "url": "http://pfam.xfam.org/family/PF08742",
            "database": "Pfam",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PF12714",
            "url": "http://pfam.xfam.org/family/PF12714",
            "database": "Pfam",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "O75443",
            "url": "https://pharos.nih.gov/targets/O75443",
            "database": "PHAROS",
            "categories": [
                "Organism-specific"
            ]
        },
        {
            "id": "PR_O75443",
            "url": "http://purl.obolibrary.org/obo/PR_O75443",
            "database": "PRO",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "R-HSA-163125",
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163125",
            "database": "Reactome",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "NP_005413",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005413",
            "database": "RefSeq",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A2R8YDL0",
            "url": "https://www.uniprot.org/uniprot/A0A2R8YDL0",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A2R8YDL0-1",
            "url": "https://www.uniprot.org/uniprot/A0A2R8YDL0-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A2R8YGQ5",
            "url": "https://www.uniprot.org/uniprot/A0A2R8YGQ5",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A2R8YGQ5-1",
            "url": "https://www.uniprot.org/uniprot/A0A2R8YGQ5-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "O75443",
            "url": "https://www.uniprot.org/uniprot/O75443",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "O75443-1",
            "url": "https://www.uniprot.org/uniprot/O75443-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        }
    ],
    "sequence": {
        "sequence": "MNYSSFLRIWVSFIFALVQHQAQPRELMYPFWQNDTKTPKVDDGSSSEIKLAIPVFFFGVPYRTVYVNNNGVVSFNVLVSQFTPESFPLTDGRAFVAPFWADVHNGIRGEIYYRETMEPAILKRATKDIRKYFKDMATFSATWVFIVTWEEVTFYGGSSTTPVNTFQAVLVSDGSYTFTLFNYYEINWTTGTASGGDPLTGLGGVMAQAGFNGGNLTNFFSLPGSRTPEIVNIQETTNVNVPGRWAFKVDGKEIDPANGCTSRGQFLRRGEVFWDDLNCTVKCRCLDFNNEIYCQEASCSPYEVCEPKGKFFYCSAVETSTCVVFGEPHYHTFDGFLFHFQGSCAYLLARQCLQTSSLPFFSVEAKNEHRRGSAVSWVKELSVEVNGYKILIPKGSYGRVKVNDLVTSLPVTLDLGTVKIYQSGISTAVETDFGLLVTFDGQHYASISVPGSYINSTCGLCGNYNKNPLDDFLRPDGRPAMSVLDLGESWRVYHADWKCDSGCVDNCTQCDAATEALYFGSDYCGFLNKTDGPLWECGTVVDPTAFVHSCVYDLCSVRDNGTLLCQAIQAYALVCQALGIPIGDWRTQTGCVSTVQCPSFSHYSVCTSSCPDTCSDLTASRNCATPCTEGCECNQGFVLSTSQCVPLHKCGCDFDGHYYTMGEFFWATANCTVQCLCEEGGDVYCFNKTCGSGEVCAVEDGYQGCFPKRETVCLLSQNQVLHTFDGASYAFPSEFSYTLLKTCPERPEYLEIDINKKKPDAGPAWLRGLRILVADQEVKIGGIGASEVKLNGQEVELPFFHPSGKLEIYRNKNSTTVESKGVVTVQYSDIGLLYIRLSTTYFNCTGGLCGFYNANASDEFCLPNGKCTDNLAVFLESWTTFEEICNGECGDLLKACNNDSELLKFYRSRSRCGIINDPSNSSFLECHGVVNVTAYYRTCLFRLCQSGGNESELCDSVARYASACKNADVEVGPWRTYDFCPLECPENSHFEECITCTETCETLTLGPICVDSCSEGCQCDEGYALLGSQCVTRSECGCNFEGHQLATNETFWVDLDCQIFCYCSGTDNRVHCETIPCKDDEYCMEEGGLYYCQARTDASCIVSGYGHYLTFDGFPFDFQTSCPLILCTTGSRPSSDSFPKFVVTAKNEDRDPSLALWVKQVDVTVFGYSIVIHRAYKHTVLVNSERLYLPLKLGQGKINIFSFGFHVVVETDFGLKVVYDWKTFLSITVPRSMQNSTYGLCGRYNGNPDDDLEMPMGLLASSVNEFGQSWVKRDTFCQVGCGDRCPSCAKVEGFSKVQQLCSLIPNQNAAFSKCHSKVNPTFFYKNCLFDSCIDGGAVQTACSWLQNYASTCQTQGITVTGWRNYTSCTVTCPPNSHYESCVSVCQPRCAAIRLKSDCSHYCVEGCHCDAGYVLNGKSCILPHSCGCYSDGKYYEPKQLFWNSDCTRRCRCFRRNVIQCDPRQCKSDEECALRNGVRGCFSTKTSYCLAAGGGVFRTFDGAFLRFPANCAFVLSTICQKLPDISFQLIINFDKWSAPNLTIISPVYFYINEEQILINDRNTVKVNGTQVNVPFITGLATKIYSSEGFLVIDTSPDIQIYYNGFNVIKISISERLQNKVCGLCGNFNGDLTDDYVTLRGKPVVSSVVLAQSWKTNGMQKRPLAPSCNELQFSQYAAMCDNVHIQKMQGDGYCLKLTDMKGFFQPCYGLLDPLPFYESCYLDGCYSHKKFQLCGSLAAYGEACRSFGILSTEWIEKENCSGVVEDPCVGADCPNRTCELGNGRELCGCIEPPPYGNNSHDIIDAEVTCKAAQMEVSISKCKLFQLGFEREGVRINDRQCTGIEGEDFISFQINNTKGNCGNIVQSNGTHIMYKNTLWIESANNTGNIITRDRTINVEFSCAYELDIKISLDSVVKPMLSVINLTVPTQEGSFITKMALYKNASYKHPYRQGEVVLTTRDVLYVGVFVVGADATHLILTLNKCYATPTRDSNDKLRYFIIEGGCQNLKDNTIGIEENAVSLTCRFHVTVFKFIGDYDEVHLHCAVSLCDSEKYSCKITCPHNSRIATDYTKEPKEQIISVGPIRRKRLDWCEDNGGCEQICTSRVDGPLCSCVTGTLQEDGKSCRASNSSMELQVWTLLLIMIQISLWHFVYKSGTTS",
        "length": 2155,
        "header": "sp|O75443-1|TECTA_HUMAN Isoform 1 of Alpha-tectorin  OS=Homo sapiens OX=9606 GN=TECTA PE=1 SV=3 CANONICAL=O75443-1"
    },
    "isoforms": [
        {
            "isoform_ac": "A0A2R8YDL0-1",
            "url": "",
            "sequence": {
                "sequence": "MNYSSFLRIWVSFIFALVQHQAQPRELMYPFWQNDTKTPKVDDGSSSEIKLAIPVFFFGVPYRTVYVNNNGVVSFNVLVSQFTPESFPLTDGRAFVAPFWADVHNGIRGEIYYRETMEPAILKRATKDIRKYFKDMATFSATWVFIVTWEEVTFYGGSSTTPVNTFQAVLVSDGSYTFTLFNYYEINWTTGTASGGDPLTGLGGVMAQAGFNGGNLTNFFSLPGSRTPEIVNIQETTNVNVPGRWAFKVDGKEIDPANGCTSRGQFLRRGEVFWDDLNCTVKCRCLDFNNEIYCQEASCSPYEVCEPKGKFFYCSAVETSTCVVFGEPHYHTFDGFLFHFQGSCAYLLARQCLQTSSLPFFSVEAKNEHRRGSAVSWVKELSVEVNGYKILIPKGSYGRVKVNDLVTSLPVTLDLGTVKIYQSGISTAVETDFGLLVTFDGQHYASISVPGSYINSTCGLCGNYNKNPLDDFLRPDGRPAMSVLDLGESWRVYHADWKCDSGCVDNCTQCDAATEALYFGSDYCGFLNKTDGPLWECGTVVDPTAFVHSCVYDLCSVRDNGTLLCQAIQAYALVCQALGIPIGDWRTQTGCVSTVQCPSFSHYSVCTSSCPDTCSDLTASRNCATPCTEGCECNQGFVLSTSQCVPLHKCGCDFDGHYYTMGEFFWATANCTVQCLCEEGGDVYCFNKTCGSGEVCAVEDGYQGCFPKRETVCLLSQNQVLHTFDGASYAFPSEFSYTLLKTCPERPEYLEIDINKKKPDAGPAWLRGLRILVADQEVKIGGIGASEVKLNGQEVELPFFHPSGKLEIYRNKNSTTVESKGVVTVQYSDIGLLYIRLSTTYFNCTGGLCGFYNANASDEFCLPNGKCTDNLAVFLESWTTFEEICNGECGDLLKACNNDSELLKFYRSRSRCGIINDPSNSSFLECHGVVNVTAYYRTCLFRLCQSGGNESELCDSVARYASACKNADVEVGPWRTYDFCPLECPENSHFEECITCTETCETLTLGPICVDSCSEGCQCDEGYALLGSQCVTRSECGCNFEGHQLATNETFWVDLDCQIFCYCSGTDNRVHCETIPCKDDEYCMEEGGLYYCQARTDASCIVSGYGHYLTFDGFPFDFQTSCPLILCTTGSRPSSDSFPKFVVTAKNEDRDPSLALWVKQVDVTVFGYSIVIHRAYKHTVLVNSERLYLPLKLGQGKINIFSFGFHVVVETDFGLKVVYDWKTFLSITVPRSMQNSTYGLCGRYNGNPDDDLEMPMGLLASSVNEFGQSWVKRDTFCQVGCGDRCPSCAKVEGFSKVQQLCSLIPNQNAAFSKCHSKVNPTFFYKNCLFDSCIDGGAVQTACSWLQNYASTCQTQGITVTGWRNYTSCTVTCPPNSHYESCVSVCQPRCAAIRLKSDCSHYCVEGCHCDAGYVLNGKSCILPHSCGCYSDGKYYEPKQLFWNSDCTRRCRCFRRNVIQCDPRQCKSDEECALRNGVRGCFSTKTSYCLAAGGGVFRTFDGAFLRFPANCAFVLSTICQKLPDISFQLIINFDKWSAPNLTIISPVYFYINEEQILINDRNTVKVNGTQVNVPFITGLATKIYSSEGFLVIDTSPDIQIYYNGFNVIKISISERLQNKVCGLCGNFNGDLTDDYVTLRGKPVVSSVVLAQSWKTNGMQKSCNELQFSQYAAMCDNVHIQKMQGDGYCLKLTDMKGFFQPCYGLLDPLPFYESCYLDGCYSHKKFQLCGSLAAYGEACRSFGILSTEWIEKENCSGVVEDPCVGADCPNRTCELGNGRELCGCIEPPPYGNNSHDIIDAEVTCKAAQMEVSISKCKLFQLGFEREGVRINDRQCTGIEGEDFISFQINNTKGNCGNIVQSNGTHIMYKNTLWIESANNTGNIITRDRTINVEFSCAYELDIKISLDSVVKPMLSVINLTVPTQEGSFITKMALYKNASYKHPYRQGEVVLTTRDVLYVGVFVVGADATHLILTLNKCYATPTRDSNDKLRYFIIEGGCQNLKDNTIGIEENAVSLTCRFHVTVFKFIGDYDEVHLHCAVSLCDSEKYSCKITCPHNSRIATDYTKEPKEQIISVGPIRRKRLDWCEDNGGCEQICTSRVDGPLCSCVTGTLQEDGKSCRASNSSMELQVWTLLLIMIQISLWHFVYKSGTTS",
                "length": 2150,
                "header": "tr|A0A2R8YDL0-1|TECTA_HUMAN Computationally mapped isoform of Alpha-tectorin  OS=Homo sapiens OX=9606 GN=TECTA PE=1 SV=1 CANONICAL=O75443-1"
            },
            "locus": {
                "chromosome": "11",
                "start_pos": 121190803,
                "end_pos": 121102666,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000642222.1",
                        "url": "https://www.ensembl.org/id/ENST00000642222.1"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000493855.1",
                        "url": "https://www.ensembl.org/id/ENSP00000493855.1"
                    }
                ]
            }
        },
        {
            "isoform_ac": "A0A2R8YGQ5-1",
            "url": "",
            "sequence": {
                "sequence": "XDSELLKFYRSRSRCGIINDPSNSSFLECHGVVNVTAYYRTCLFRLCQSGGNESELCDSVARYASACKNADVEVGPWRTYDFCPLECPENSHFEECITCTETCETLTLGPICVDSCSEGCQCDEGYALLGSQCVTRSECGCNFEGHQLATNETFWVDLDCQIFCYCSGTDNRVHCETIPCKDDEYCMEEGGLYYCQARTDASCIVSGYGHYLTFDGFPFDFQTSCPLILCTTGSRPSSDSFPKFVVTAKNEDRDPSLALWVKQVDVTVFGYSIVIHRAYKHTVLVNSERLYLPLKLGQGKINIFSFGFHVVVETDFGLKVVYDWKTFLSITVPRSMQNSTYGLCGRYNGNPDDDLEMPMGLLASSVNEFGQSWVKRDTFCQVGCGDRCPSCAKVEGFSKVQQLCSLIPNQNAAFSKCHSKVNPTFFYKNCLFDSCIDGGAVQTACSWLQNYASTCQTQGITVTGWRNYTSCTVTCPPNSHYESCVSVCQPRCAAIRLKSDCSHYCVEGCHCDAGYVLNGKSCILPHSCGCYSDGKYYEPKQLFWNSDCTRRCRCFRRNVIQCDPRQCKSDEECALRNGVRGCFSTKTSYCLAAGGGVFRTFDGAFLRFPANCAFVLSTICQKLPDISFQLIINFDKWSAPNLTIISPVYFYINEEQILINDRNTVKVNGTQVNVPFITGLATKIYSSEGFLVIDTSPDIQIYYNGFNVIKISISERLQNKVCGLCGNFNGDLTDDYVTLRGKPVVSSVVLAQSWKTNGMQKSCNELQFSQYAAMCDNVHIQKMQGDGYCLKLTDMKGFFQPCYGLLDPLPFYESCYLDGCYSHKKFQLCGSLAAYGEACRSFGILSTEWIEKENCSGVVEDPCVGADCPNRTCELGNGRELCGCIEPPPYGNNSHDIIDAEVTCKAAQMEVSISKCKLFQLGFEREGVRINDRQCTGIEGEDFISFQINNTKGNCGNIVQSNGTHIMYKNTLWIESANNTGNIITRDRTINVEFSCAYELDIKISLDSVVKPMLSVINLTVPTQEGSFITKMALYKNASYKHPYRQGEVVLTTRDVLYVGVFVVGADATHLILTLNKCYATPTRDSNDKLRYFIIEGGCQNLKDNTIGIEENAVSLTCRFHVTVFKFIGDYDEVHLHCAVSLCDSEKYSCKITCPHNSRIATDYTKEPKEQIISVGPIRRKRLDWCEDNGGCEQICTSRVDGPLCSCVTGTLQEDGKSCRGRHSSTLGQAAGRHGRFFTTRRRNSDLKATRSATLPRKLQKLRRKDGEHAQGILGPLNKQTNNNNKKTLLFHLKYKASNSSMELQVWTLLLIMIQISLWHFVYKSGTTS",
                "length": 1329,
                "header": "tr|A0A2R8YGQ5-1|TECTA_HUMAN Computationally mapped isoform of Alpha-tectorin  OS=Homo sapiens OX=9606 GN=TECTA PE=1 SV=1 CANONICAL=O75443-1"
            },
            "locus": {
                "chromosome": "11",
                "start_pos": 121190805,
                "end_pos": 121129964,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000645008.1",
                        "url": "https://www.ensembl.org/id/ENST00000645008.1"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000496274.1",
                        "url": "https://www.ensembl.org/id/ENSP00000496274.1"
                    }
                ]
            }
        },
        {
            "isoform_ac": "O75443-1",
            "url": "",
            "sequence": {
                "sequence": "MNYSSFLRIWVSFIFALVQHQAQPRELMYPFWQNDTKTPKVDDGSSSEIKLAIPVFFFGVPYRTVYVNNNGVVSFNVLVSQFTPESFPLTDGRAFVAPFWADVHNGIRGEIYYRETMEPAILKRATKDIRKYFKDMATFSATWVFIVTWEEVTFYGGSSTTPVNTFQAVLVSDGSYTFTLFNYYEINWTTGTASGGDPLTGLGGVMAQAGFNGGNLTNFFSLPGSRTPEIVNIQETTNVNVPGRWAFKVDGKEIDPANGCTSRGQFLRRGEVFWDDLNCTVKCRCLDFNNEIYCQEASCSPYEVCEPKGKFFYCSAVETSTCVVFGEPHYHTFDGFLFHFQGSCAYLLARQCLQTSSLPFFSVEAKNEHRRGSAVSWVKELSVEVNGYKILIPKGSYGRVKVNDLVTSLPVTLDLGTVKIYQSGISTAVETDFGLLVTFDGQHYASISVPGSYINSTCGLCGNYNKNPLDDFLRPDGRPAMSVLDLGESWRVYHADWKCDSGCVDNCTQCDAATEALYFGSDYCGFLNKTDGPLWECGTVVDPTAFVHSCVYDLCSVRDNGTLLCQAIQAYALVCQALGIPIGDWRTQTGCVSTVQCPSFSHYSVCTSSCPDTCSDLTASRNCATPCTEGCECNQGFVLSTSQCVPLHKCGCDFDGHYYTMGEFFWATANCTVQCLCEEGGDVYCFNKTCGSGEVCAVEDGYQGCFPKRETVCLLSQNQVLHTFDGASYAFPSEFSYTLLKTCPERPEYLEIDINKKKPDAGPAWLRGLRILVADQEVKIGGIGASEVKLNGQEVELPFFHPSGKLEIYRNKNSTTVESKGVVTVQYSDIGLLYIRLSTTYFNCTGGLCGFYNANASDEFCLPNGKCTDNLAVFLESWTTFEEICNGECGDLLKACNNDSELLKFYRSRSRCGIINDPSNSSFLECHGVVNVTAYYRTCLFRLCQSGGNESELCDSVARYASACKNADVEVGPWRTYDFCPLECPENSHFEECITCTETCETLTLGPICVDSCSEGCQCDEGYALLGSQCVTRSECGCNFEGHQLATNETFWVDLDCQIFCYCSGTDNRVHCETIPCKDDEYCMEEGGLYYCQARTDASCIVSGYGHYLTFDGFPFDFQTSCPLILCTTGSRPSSDSFPKFVVTAKNEDRDPSLALWVKQVDVTVFGYSIVIHRAYKHTVLVNSERLYLPLKLGQGKINIFSFGFHVVVETDFGLKVVYDWKTFLSITVPRSMQNSTYGLCGRYNGNPDDDLEMPMGLLASSVNEFGQSWVKRDTFCQVGCGDRCPSCAKVEGFSKVQQLCSLIPNQNAAFSKCHSKVNPTFFYKNCLFDSCIDGGAVQTACSWLQNYASTCQTQGITVTGWRNYTSCTVTCPPNSHYESCVSVCQPRCAAIRLKSDCSHYCVEGCHCDAGYVLNGKSCILPHSCGCYSDGKYYEPKQLFWNSDCTRRCRCFRRNVIQCDPRQCKSDEECALRNGVRGCFSTKTSYCLAAGGGVFRTFDGAFLRFPANCAFVLSTICQKLPDISFQLIINFDKWSAPNLTIISPVYFYINEEQILINDRNTVKVNGTQVNVPFITGLATKIYSSEGFLVIDTSPDIQIYYNGFNVIKISISERLQNKVCGLCGNFNGDLTDDYVTLRGKPVVSSVVLAQSWKTNGMQKRPLAPSCNELQFSQYAAMCDNVHIQKMQGDGYCLKLTDMKGFFQPCYGLLDPLPFYESCYLDGCYSHKKFQLCGSLAAYGEACRSFGILSTEWIEKENCSGVVEDPCVGADCPNRTCELGNGRELCGCIEPPPYGNNSHDIIDAEVTCKAAQMEVSISKCKLFQLGFEREGVRINDRQCTGIEGEDFISFQINNTKGNCGNIVQSNGTHIMYKNTLWIESANNTGNIITRDRTINVEFSCAYELDIKISLDSVVKPMLSVINLTVPTQEGSFITKMALYKNASYKHPYRQGEVVLTTRDVLYVGVFVVGADATHLILTLNKCYATPTRDSNDKLRYFIIEGGCQNLKDNTIGIEENAVSLTCRFHVTVFKFIGDYDEVHLHCAVSLCDSEKYSCKITCPHNSRIATDYTKEPKEQIISVGPIRRKRLDWCEDNGGCEQICTSRVDGPLCSCVTGTLQEDGKSCRASNSSMELQVWTLLLIMIQISLWHFVYKSGTTS",
                "length": 2155,
                "header": "sp|O75443-1|TECTA_HUMAN Isoform 1 of Alpha-tectorin  OS=Homo sapiens OX=9606 GN=TECTA PE=1 SV=3 CANONICAL=O75443-1"
            },
            "locus": {
                "chromosome": "11",
                "start_pos": 121190803,
                "end_pos": 121102666,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000264037.2",
                        "url": "https://www.ensembl.org/id/ENST00000264037.2"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000264037.2",
                        "url": "https://www.ensembl.org/id/ENSP00000264037.2"
                    }
                ]
            }
        }
    ],
    "glycosylation": [
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
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            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 1048,
            "start_aa": "Asn",
            "end_pos": 1048,
            "end_aa": "Asn",
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            "site_lbl": "Asn1048",
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                    "id": "O75443",
                    "database": "UniProtKB",
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                }
            ]
        },
        {
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            "subtype": "",
            "site_category": "predicted",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
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            "start_aa": "Asn",
            "end_pos": 1235,
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                    "id": "O75443",
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                    "url": "https://www.uniprot.org/uniprot/O75443#ptm_processing"
                }
            ]
        },
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            "site_seq": "N",
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            "comment": "N-linked (GlcNAc...) asparagine",
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            "start_aa": "Asn",
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                {
                    "id": "O75443",
                    "database": "UniProtKB",
                    "url": "https://www.uniprot.org/uniprot/O75443#ptm_processing"
                }
            ]
        },
        {
            "glytoucan_ac": "",
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            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
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            "start_aa": "Asn",
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                    "id": "O75443",
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            ]
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            "site_seq": "N",
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                    "id": "O75443",
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            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
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                    "id": "O75443",
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                    "id": "O75443",
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                    "id": "O75443",
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                    "id": "O75443",
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            ]
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                    "id": "O75443",
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            "glytoucan_ac": "",
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            "comment": "N-linked (GlcNAc...) asparagine",
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                    "id": "O75443",
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                    "id": "O75443",
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                    "id": "O75443",
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                    "id": "O75443",
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                    "id": "O75443",
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            "glytoucan_ac": "",
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            "title": "Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss.",
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            "title": "A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family.",
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            "journal": "Nature genetics",
            "date": "1998",
            "authors": "Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ, Van Camp G",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O75443",
                    "url": "https://www.uniprot.org/uniprot/O75443"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "9590290",
                    "url": "https://glygen.org/publication/PubMed/9590290"
                }
            ]
        },
        {
            "title": "An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.",
            "journal": "Hum. Mol. Genet.",
            "date": "1999",
            "authors": "Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, Loiselet J, Petit C",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O75443",
                    "url": "https://www.uniprot.org/uniprot/O75443"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "9949200",
                    "url": "https://glygen.org/publication/PubMed/9949200"
                }
            ]
        }
    ],
    "pathway": [
        {
            "id": "hsa:7007",
            "name": "",
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7007",
            "resource": "KEGG Pathway"
        },
        {
            "id": "R-HSA-163125",
            "name": "Post-translational modification: synthesis of GPI-anchored proteins",
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163125",
            "resource": "Reactome",
            "description": "Post-translational modification: synthesis of GPI-anchored proteins"
        }
    ],
    "orthologs": [
        {
            "uniprot_canonical_ac": "D4A7Z6-1",
            "protein_name": "Tectorin alpha",
            "gene_name": "Tecta",
            "tax_id": 10116,
            "organism": "Rattus norvegicus",
            "sequence": {
                "sequence": "MNYSSLLRIWVSFIFALVRHQAQPRELMYPFWQNDTRTPKVDDGSSSEIKLAIPVFFFGVPYRTVYVNNNGVVSFNVLVSQFTPESFPLTDGRAFIAPFWADVHNGIRGEIYYRETMDSAILRRATKDIRKYFKDMTTFSATWVFIVTWEEVTFYGGSSTTPVNTFQAVLVSDGSYTFTLFNYYEINWTTGTASGGDPLTGLGGVMAQAGFNGGNLTNFFSLPGSRTPEIVNIQETTNVNVPGRWAFKVDGKEIDPANGCTSRGQFLRRGEVFWDDLNCTIKCRCLDFNNEIYCQEASCSPYEVCEPKGRFFYCSPVETSTCVVFGEPHYHTFDGFLFHFQGSCAYLLARQCLQTSSLPFFSVEAKNEHRGGSAVSWVKELSVEVNGYKILIPKGSYGKVKVNDLVTSLPVTLELGAVKIYQSGMSTAVETDFGLLVTFDGQHYASISIPGSYINSTCGLCGNYNKNPLDDFLRPDGRPAMSVLDLGESWRVYHTDWKCGSGCIDNCTQCDAATEALYFGSDYCGFLNKTDGPLWECGTVVDATAFVHSCVYDLCSVRDNGTLLCQAIQAYALVCQALGIPIGDWRIQTGCVSTVRCPSFSHYSVCTSSCPDTCSDLTASQNCATPCTEGCECNEGFVLSTSQCVPLHKCGCDFEGHYYTMGEFFWATANCTVQCLCEEGGDVYCFNKTCRSGEVCAVEDGYQGCFPKRETVCLLSQNQVLHTFDGAAYAFPSELSYTLLKTCPERPEYLEIDINKRKPDAGPAWLRGVRILVADQEVKIGGVGALEVKLNGQDVELPFFHPSGRLEIHRNKNSTTVESKGVVSVQYSDVGLLYIRLSTMYFNCTGGLCGFFNANASDEFCLPNGKCTDNLAVFLESWTTFEEICNGECGDLLKACNNDSELLKFYRSRSRCGIINDPSNSSFLECHGVVNVTAYYRTCLFRLCQSGGNESELCDSVARYASACKNADVEVGPWRTYDFCPLECPENSHFEECMTCTETCETLALGPICVDSCSEGCQCDEGYALQGSQCVTRSECGCNFEGHQLATNETFWVDQDCQIFCYCNGTDNSVHCETIPCRDDDYCMEESGLYYCQPRTDASCIVSGYGHYLTFDGYPFDFQTSCPLILCTTGSRSISDSFPKFIVTAKNEDRDPSLALWVKQVDVTVFGYSIVIHRAYKHTVLVNNERLYLPLKLGQGKINIFSFGFHVVVETDFGLKVVYDWKTFLSITVPRSMQNSTYGLCGRYNGNPGDDLEMPMGLLALSINEFGQSWVKRDTFCQVGCGDRCPSCAKVEGFSKVQQLCSLIPNQNAGFAKCHSKVNPTFFYKNCLFDSCIDGGAVQTACSWLQNYASTCQTQGVAVTGWRNYTSCSVTCPPNSHYESCVSVCQPRCAAIRLKSDCNHYCVEGCQCDAGYVLNGKSCILPHNCGCYSDGKYYEPKQLFWNGDCTRRCRCFRRNLIQCDPRQCKSDEECALRSGVRGCFSTKTSYCLAAGGGVFRTFDGAFLRFPANCAFVLSTICQKLPDISFQLIINFDKWSSPNLTIISPVYFYINEEQILINDRNTVKVNGTQVNVPFITGLATKIYSSEGFLVIDTSPDIQIYYNGFNVIKISISERLQNKVCGLCGNFNGDMTDDYVTLRGKPVVSSVVLAQSWKTNGMQKRPLTPSCNELQFSQYAATCDNVHIQAMQGDGYCLKLTDMKGFFQPCYGLLDPLPFYESCYLDGCYNHKKFQLCGSLAAYGEACRSFGILSTEWIEKENCSGVVEDPCVGADCPNRTCELDNGGELCGCIEPPPYGNNSHDIIDAEVTCKAAQMEVSISKCKLFQLGFEREGVRINDRQCSGIEGEDFISFQINNTKGNCGNVVQSNGTHIMYKNTIWIESANNTGNIITRDRTINVEFSCAYELDIKISLDSVVKPMLSVINLTVPTQEGSFTTKMALYKNASYKHPYRQGEVVLTTRDVLYVGVFVVGADSTHLILTLNKCYATPSRDSNDKLRYFIIEGGCQNIKDNTIGIEENGVSLTCRFHVTVFKFIGDYDEVHLHCAVSLCDSEKYSCKINCPQNSRIATDYSKEHKEQIISVGPIRRKRLDWCEDNGGCEQVCTSRVDGPLCSCVTGSLQEDGRSCRASNSSVEPQVWTLLLIMTQISLWHFVYQSGATS",
                "length": 2155
            },
            "evidence": [
                {
                    "id": "45928024",
                    "url": "http://www.informatics.jax.org/homology/45928024",
                    "database": "MGI"
                },
                {
                    "id": "O75443",
                    "url": "https://omabrowser.org/oma/group/O75443/",
                    "database": "OMA"
                }
            ],
            "common_name": "Rat"
        },
        {
            "uniprot_canonical_ac": "O08523-1",
            "protein_name": "Alpha-tectorin",
            "gene_name": "Tecta",
            "tax_id": 10090,
            "organism": "Mus musculus",
            "sequence": {
                "sequence": "MNYSSLLRIWVSFIFALVRHQAQPRELMYPFWQNDTRTPKVDDGSSSEIKLAIPVFFFGVPYRTVYVNNNGVVSFNVLVSQFTPESFPLTDGRAFIAPFWADVHNGIRGEIYYRETMDPAILRRATKDIRKYFKDMTTFSATWVFIVTWEEVTFYGGSSTTPVNTFQAVLVSDGSYTFTLFNYYEINWTTGTASGGDPLTGLGGVMAQAGFNGGNLTNFFSLPGSRTPEIVNIQETTNVNVPGRWAFKVDGKEIDPANGCTSRGQFLRRGEVFWDDLNCTIKCRCLDFNNEIYCQEASCSPYEVCEPKGRFFYCSPVETSTCVVFGEPHYHTFDGFLFHFQGSCAYLLARQCLQTSSLPFFSVEAKNEHRGGSAVSWVKELSVEVNGYKILIPKGSYGKVKVNDLVTSLPVTLELGAVKIYQSGMSTAVETDFGLLVTFDGQHYASISIPGSYINSTCGLCGNYNKNPLDDFLRPDGRPAMSVLDLGESWRVYHADWKCGSGCVDNCTQCDAATEALYFGSDYCGFLNKTDGPLWECGTVVDATAFVHSCVYDLCSVRDNGTLLCQAIQAYALVCQALGIPIGDWRIQTGCVSTVRCPSFSHYSVCTSSCPDTCSDLTASQNCATPCTEGCECNEGFVLSTSQCVPLHKCGCDFDGHYYTMGEFFWATANCTVQCLCEEGGDVYCFNKTCRSGEVCAVEDGYQGCFPKRETVCLLSQNQVLHTFDGAAYAFPSELSYTLLKTCPERPEYLEIDINKKKPDAGPAWLRGVRILVADQEVKIGGVGALEVKLNGQDVELPFFHPSGRLEIHRNKNSTTVESKGVVSVQYSDVGLLYIRLSTMYFNCTGGLCGFFNANASDEFCLPNGKCTDNLAVFLESWTTFEEICNGECGDLLKACNNDSELLKFYRSRSRCGIINDPSNSSFLECHGVVNVTAYYRTCLFRLCQSGGNESELCDSVARYASACKNADVEVGPWRTYDFCPLECPENSHFEECMTCTETCETLALGPICVDSCSEGCQCDEGYALQGSQCVPRSECGCNFEGHQLATNETFWVDQDCQIFCYCNGTDNSVHCETIPCRDDEYCMEESGLYYCQPRTDASCIVSGYGHYLTFDGYPFDFQTSCPLILCTTGSRPISDSFPKFIVTAKNEDRDPSLALWVKQVDVNVFGYSIVIHRAYKHTVLVNNERLYLPLKLGQGKINIFSFGFHVVVETDFGLKVVYDWKTFLSITVPRSMQNGTYGLCGRYNGNPDDDLEMPMGLPALSINEFGQSWVKRDTFCQVGCGDRCPSCAKVEGFSKVQQLCSLIPNQNAGFAKCHSKVNPTFFYKNCLFDSCIDGGAVQTACSWLQNYASTCQTQGIAVTGWRNYTSCSVTCPPNSHYESCVSVCQPRCAAIRLKSDCNHYCVEGCQCDAGYVLNGKSCILPHNCGCYSDGKYYEPKQLFWNGDCTRRCRCFRRNLIQCDPRQCKSDEECALRSGVRGCFSTKTSYCLAAGGGVFRTFDGAFLRFPANCAFVLSTICQKLPDISFQLIINFDKWSSPNLTIISPVYFYINEEQILINDRNTVKVNGTQVNVPFITGLATKIYSSEGFLVIDTSPDIQIYYNGFNVIKISISERLQNKVCGLCGNFNGDMTDDYVTLRGKPVVSSVVLAQSWKTNGMQKRPLAPSCNELQFSQYAATCDNVHIQAMQGDGYCLKLTDMKGFFQPCYGLLDPLPFYESCYLDGCYNHKKFQLCGSLAAYGEACRSFGILSTEWIEKENCSGVVEDPCVGADCPNRTCELDNGGELCGCIEPPPYGNNSHDIIDAEVTCKAAQMEVSISKCKLFQLGFEREGVRINDRQCSGIEGEDFISFQINNTKGNCGNIVQSNGTHIMYKNTIWIESANNTGNIITRDRTINVEFSCAYELDIKISLDSVVKPMLSVINLTVPTQEGSFTTKMALYKNASYKHPYRQGEVVLTTRDVLYVGVFVVGADSTHLILTLNKCYATPSRDSNDKLRYFIIEGGCQNIKDNTIGIEENGVSLTCRFHVTVFKFIGDYDEVHLHCAVSLCDSEKYSCKINCPQNSRIATDYSKEHKEQIISVGPIRRKRLDWCEDNGGCEQICTSRVDGPLCSCVTGSLQEDGRSCRASNSSVELQVWTLLLIMTQISLWHLIYKSGATS",
                "length": 2155
            },
            "evidence": [
                {
                    "id": "45928024",
                    "url": "http://www.informatics.jax.org/homology/45928024",
                    "database": "MGI"
                },
                {
                    "id": "O75443",
                    "url": "https://omabrowser.org/oma/group/O75443/",
                    "database": "OMA"
                }
            ],
            "common_name": "Mouse"
        }
    ],
    "go_annotation": {
        "categories": [
            {
                "name": "Cellular Component",
                "total": 6,
                "go_terms": [
                    {
                        "name": "extracellular region",
                        "id": "GO:0005576",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75443",
                                "url": "https://www.uniprot.org/uniprot/O75443"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "membrane",
                        "id": "GO:0016020",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75443",
                                "url": "https://www.uniprot.org/uniprot/O75443"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "plasma membrane",
                        "id": "GO:0005886",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75443",
                                "url": "https://www.uniprot.org/uniprot/O75443"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "extracellular matrix",
                        "id": "GO:0031012",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75443",
                                "url": "https://www.uniprot.org/uniprot/O75443"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "extracellular exosome",
                        "id": "GO:0070062",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75443",
                                "url": "https://www.uniprot.org/uniprot/O75443"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "side of membrane",
                        "id": "GO:0098552",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75443",
                                "url": "https://www.uniprot.org/uniprot/O75443"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            },
            {
                "name": "Biological Process",
                "total": 3,
                "go_terms": [
                    {
                        "name": "cell-matrix adhesion",
                        "id": "GO:0007160",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75443",
                                "url": "https://www.uniprot.org/uniprot/O75443"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "sensory perception of sound",
                        "id": "GO:0007605",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75443",
                                "url": "https://www.uniprot.org/uniprot/O75443"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "auditory receptor cell stereocilium organization",
                        "id": "GO:0060088",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060088",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75443",
                                "url": "https://www.uniprot.org/uniprot/O75443"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            },
            {
                "name": "Molecular Function",
                "total": 1,
                "go_terms": [
                    {
                        "name": "extracellular matrix structural constituent",
                        "id": "GO:0005201",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "O75443",
                                "url": "https://www.uniprot.org/uniprot/O75443"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            }
        ]
    },
    "pro_annotation": [],
    "site_annotation": [
        {
            "start_pos": 1048,
            "end_pos": 1050,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 1235,
            "end_pos": 1237,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 1364,
            "end_pos": 1366,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 1538,
            "end_pos": 1540,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 1565,
            "end_pos": 1567,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 1756,
            "end_pos": 1758,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 1772,
            "end_pos": 1774,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 1794,
            "end_pos": 1796,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 1851,
            "end_pos": 1853,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 1864,
            "end_pos": 1866,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 187,
            "end_pos": 189,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 1880,
            "end_pos": 1882,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 1920,
            "end_pos": 1922,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 1939,
            "end_pos": 1941,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 2125,
            "end_pos": 2127,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 215,
            "end_pos": 217,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 278,
            "end_pos": 280,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 2,
            "end_pos": 4,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 34,
            "end_pos": 36,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 455,
            "end_pos": 457,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 506,
            "end_pos": 508,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 528,
            "end_pos": 530,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 560,
            "end_pos": 562,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 670,
            "end_pos": 672,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 687,
            "end_pos": 689,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 813,
            "end_pos": 815,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 843,
            "end_pos": 845,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 855,
            "end_pos": 857,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 898,
            "end_pos": 900,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 920,
            "end_pos": 922,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 931,
            "end_pos": 933,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 949,
            "end_pos": 951,
            "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": [
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        "o_linked_sites": [],
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        "glycation_sites": [],
        "phosphorylation_sites": [
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        "sequon_annotation_sites": [
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                "start_pos": 1048,
                "end_pos": 1050
            },
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                "start_pos": 1235,
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                "start_pos": 1364,
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                "start_pos": 1794,
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            {
                "start_pos": 1864,
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            {
                "start_pos": 187,
                "end_pos": 189
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                "start_pos": 1880,
                "end_pos": 1882
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            {
                "start_pos": 1920,
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                "start_pos": 1939,
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                "start_pos": 215,
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                "start_pos": 278,
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                "start_pos": 2,
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                "start_pos": 34,
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