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                            {
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                            {
                                "id": "MONDO:0008903",
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                            {
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                            {
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                            {
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                            {
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                            {
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                                "id": "MONDO:0012159",
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                                "id": "MONDO:0012159",
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                            {
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                                "resource": "MONDO",
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                            {
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                                "id": "MONDO:0013631",
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                            {
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                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
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                                "resource": "Disease Ontology",
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                                "name": "multiple ostechondromas",
                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
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                                "description": "Hereditary multiple exostoses 1"
                            },
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                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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                                "description": "Hereditary multiple exostoses 2"
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                            },
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                                "id": "206",
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                    }
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                            {
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                            {
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                            {
                                "id": "MONDO:0008170",
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                            {
                                "id": "MONDO:0008170",
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of the ovary",
                                "description": ""
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
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                                "description": ""
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of ovary",
                                "description": ""
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                            {
                                "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",
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                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008170",
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
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                            },
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                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/167000",
                                "name": "Ovarian cancer",
                                "description": "Ovarian cancer"
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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:0008170",
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                            {
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                                "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": "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": "MIM:167000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/167000",
                                "name": "Ovarian cancer",
                                "description": "Ovarian cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:2151"
                        ],
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                            {
                                "id": "2394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2394"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1438644669",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1438644669"
                    },
                    {
                        "id": "rs1438644669",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1438644669#frequency_tab"
                    },
                    {
                        "id": "rs1438644669",
                        "database": "gnomAD",
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                ],
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                "end_pos": 66,
                "sequence_org": "V",
                "sequence_mut": "M",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44107908",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V66",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1955965159",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1955965159"
                    },
                    {
                        "id": "rs1955965159",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1955965159#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 671,
                "end_pos": 671,
                "sequence_org": "V",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44236369",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V671",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1330306691",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1330306691"
                    },
                    {
                        "id": "rs1330306691",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1330306691"
                    }
                ],
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                "end_pos": 671,
                "sequence_org": "V",
                "sequence_mut": "M",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44236368",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V671",
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                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 672,
                "end_pos": 672,
                "sequence_org": "E",
                "sequence_mut": "*",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44236371",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "E672",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2135283827",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135283827"
                    },
                    {
                        "id": "rs2135283827",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135283827"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 675,
                "end_pos": 675,
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244153",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E675",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs757510885",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757510885"
                    },
                    {
                        "id": "rs757510885",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757510885"
                    },
                    {
                        "id": "rs757510885",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs757510885#frequency_tab"
                    },
                    {
                        "id": "rs757510885",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs757510885"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 676,
                "end_pos": 676,
                "sequence_org": "C",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244156",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "C676",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1956070319",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1956070319"
                    },
                    {
                        "id": "rs1956070319",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1956070319#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 676,
                "end_pos": 676,
                "sequence_org": "C",
                "sequence_mut": "W",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244158",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "C676",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2135283851",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135283851"
                    },
                    {
                        "id": "rs2135283851",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135283851"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 676,
                "end_pos": 676,
                "sequence_org": "C",
                "sequence_mut": "Y",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244157",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "C676",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs753223281",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753223281"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 678,
                "end_pos": 678,
                "sequence_org": "N",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244161CAA",
                "ref_nt": "]",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N678",
                "disease": [
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                        ],
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                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs779500003",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779500003"
                    },
                    {
                        "id": "rs779500003",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779500003"
                    },
                    {
                        "id": "rs779500003",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs779500003"
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                ],
                "glycoeffect": [
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                ],
                "start_pos": 679,
                "end_pos": 679,
                "sequence_org": "K",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244166",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K679",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
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                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 679,
                "end_pos": 679,
                "subjects_tested": "1773",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "K",
                "sequence_mut": "T",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44244166",
                "ref_nt": "A",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "K679",
                "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": "GC",
                                "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"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "10534",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10534"
                            },
                            {
                                "id": "10534",
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                                "url": "https://www.alliancegenome.org/disease/DOID:10534"
                            }
                        ]
                    }
                ],
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            },
            {
                "evidence": [
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                    },
                    {
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                    },
                    {
                        "id": "rs748292026",
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                    },
                    {
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                    },
                    {
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                    },
                    {
                        "id": "rs748292026",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs748292026"
                    }
                ],
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                "start_pos": 67,
                "end_pos": 67,
                "sequence_org": "P",
                "sequence_mut": "L",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44107912",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "0.000010",
                "site_lbl": "P67",
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                ],
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                    {
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                        },
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                            {
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                            },
                            {
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                                "description": ""
                            },
                            {
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                                "description": ""
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
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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:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
                            {
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                                "description": ""
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                                "id": "MIM:133700",
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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                            },
                            {
                                "id": "206",
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                    },
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                            },
                            {
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                            },
                            {
                                "id": "DOID:206",
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                            },
                            {
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                            },
                            {
                                "id": "DOID:206",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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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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                            {
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                            {
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            {
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
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                                "resource": "MIM",
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                            },
                            {
                                "id": "206",
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                        ]
                    },
                    {
                        "disease_id": "DOID:206",
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                            {
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                                "name": "Multiple exostosis syndromes",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs748292026",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748292026"
                    },
                    {
                        "id": "rs748292026",
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                    },
                    {
                        "id": "rs748292026",
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                    },
                    {
                        "id": "rs748292026",
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                    },
                    {
                        "id": "rs748292026",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs748292026"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 67,
                "end_pos": 67,
                "sequence_org": "P",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44107912",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P67",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2134966315",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134966315"
                    },
                    {
                        "id": "rs2134966315",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2134966315"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 67,
                "end_pos": 67,
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107911",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P67",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "rs2134966315",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134966315"
                    },
                    {
                        "id": "rs2134966315",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2134966315"
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                ],
                "glycoeffect": [],
                "start_pos": 67,
                "end_pos": 67,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "P",
                "sequence_mut": "T",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44107911",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "P67",
                "disease": [
                    {
                        "disease_id": "DOID:1324",
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                            "id": "DOID:1324",
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                            {
                                "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": "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": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
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                        "evidence": [
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                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
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                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
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            },
            {
                "evidence": [
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                        "id": "rs1475378744",
                        "database": "dbSNP",
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                    },
                    {
                        "id": "rs1475378744",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1475378744"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 680,
                "end_pos": 680,
                "sequence_org": "F",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44244168",
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                "keywords": [
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                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1475378744",
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                    },
                    {
                        "id": "rs1475378744",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1475378744"
                    },
                    {
                        "id": "rs1475378744",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1475378744"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 680,
                "end_pos": 680,
                "sequence_org": "F",
                "sequence_mut": "L",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244168",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "F680",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-gain"
                ],
                "start_pos": 680,
                "end_pos": 680,
                "sequence_org": "F",
                "sequence_mut": "S",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44244169",
                "ref_nt": "T",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "F680",
                "keywords": [
                    "ebi",
                    "somatic"
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            },
            {
                "evidence": [
                    {
                        "id": "rs771936445",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771936445"
                    },
                    {
                        "id": "rs771936445",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs771936445#frequency_tab"
                    },
                    {
                        "id": "rs771936445",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs771936445"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 681,
                "end_pos": 681,
                "sequence_org": "A",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244171",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A681",
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                            {
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                            {
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                            {
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                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
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                            {
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
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                                "id": "MONDO:0010846",
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                            {
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                            {
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                                "id": "DOID:206",
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                            {
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                            },
                            {
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                                "description": ""
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
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                                "resource": "MIM",
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                            },
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                            {
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                            {
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                            {
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010846",
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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": "DOID:206",
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
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                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
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                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
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                            {
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                            }
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                    }
                ],
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                ]
            },
            {
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                    {
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                ],
                "glycoeffect": [],
                "start_pos": 685,
                "end_pos": 685,
                "sequence_org": "G",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244184",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G685",
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                            {
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                                "id": "MONDO:0007586",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            },
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                                "description": ""
                            },
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                            },
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                                "resource": "MIM",
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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": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
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                            },
                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                                "id": "206",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
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                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                                "id": "MONDO:0007586",
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                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
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                                "resource": "MONDO",
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                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
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                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                            },
                            {
                                "id": "206",
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                        ]
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                    {
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                            {
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                            {
                                "id": "DOID:206",
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                                "id": "DOID:206",
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                                "id": "DOID:206",
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                                "id": "DOID:206",
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                            {
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                                "id": "MONDO:0007586",
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                ],
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            },
            {
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                "minor_allelic_frequency": "",
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            },
            {
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                ],
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                                "id": "DOID:206",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1956071237",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1956071237"
                    },
                    {
                        "id": "rs1956071237",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1956071237"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 688,
                "end_pos": 688,
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244192",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P688",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1403194559",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1403194559"
                    },
                    {
                        "id": "rs1403194559",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1403194559"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 689,
                "end_pos": 689,
                "sequence_org": "L",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244195",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L689",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 689,
                "end_pos": 689,
                "sequence_org": "L",
                "sequence_mut": "H",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44244196",
                "ref_nt": "T",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "L689",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2134966368",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134966368"
                    },
                    {
                        "id": "rs2134966368",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2134966368"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 68,
                "end_pos": 68,
                "sequence_org": "V",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107914",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V68",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2134966368",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134966368"
                    },
                    {
                        "id": "rs2134966368",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2134966368"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 68,
                "end_pos": 68,
                "sequence_org": "V",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107914",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V68",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1954081053",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954081053"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 68,
                "end_pos": 68,
                "sequence_org": "V",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107915_44107970",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V68",
                "disease": [
                    {
                        "disease_id": "DOID:206",
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                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1956071337",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1956071337"
                    },
                    {
                        "id": "rs1956071337",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1956071337"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 690,
                "end_pos": 690,
                "sequence_org": "K",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244198",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K690",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 690,
                "end_pos": 690,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "K",
                "sequence_mut": "E",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44244198",
                "ref_nt": "A",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "K690",
                "disease": [
                    {
                        "disease_id": "DOID:9256",
                        "recommended_name": {
                            "id": "DOID:9256",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:9256",
                            "name": "colorectal cancer",
                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
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                            },
                            {
                                "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",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "large intestine cancer",
                                "description": ""
                            },
                            {
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                                "resource": "MIM",
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                            {
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
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                            }
                        ]
                    }
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            },
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                "comment": "Germline mutation passed 0 out of 0 filters:",
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            },
            {
                "evidence": [
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                        "id": "rs1956071526",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1956071526"
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                    {
                        "id": "rs1956071526",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1956071526"
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                ],
                "glycoeffect": [],
                "start_pos": 693,
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                "sequence_org": "E",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44244208",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E693",
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                    "germline"
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            },
            {
                "evidence": [
                    {
                        "id": "rs2135284042",
                        "database": "dbSNP",
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                    },
                    {
                        "id": "rs2135284042",
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                        "url": "https://www.ensembl.org/id/rs2135284042"
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                ],
                "glycoeffect": [],
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                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44244207",
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                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E693",
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                    "germline"
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            },
            {
                "evidence": [
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                        "id": "rs2135284061",
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                    {
                        "id": "rs2135284061",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135284061"
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                ],
                "glycoeffect": [],
                "start_pos": 694,
                "end_pos": 694,
                "sequence_org": "H",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
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                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1956071680",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1956071680"
                    },
                    {
                        "id": "rs1956071680",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1956071680"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 695,
                "end_pos": 695,
                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44244214",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R695",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1956071776",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1956071776"
                    },
                    {
                        "id": "rs1956071776",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1956071776"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 696,
                "end_pos": 696,
                "sequence_org": "A",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244217",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A696",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs768488656",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768488656"
                    },
                    {
                        "id": "rs768488656",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768488656"
                    },
                    {
                        "id": "rs768488656",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs768488656#frequency_tab"
                    },
                    {
                        "id": "rs768488656",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs768488656"
                    }
                ],
                "glycoeffect": [],
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                "end_pos": 696,
                "sequence_org": "A",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44244216",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A696",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs768488656",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768488656"
                    },
                    {
                        "id": "rs768488656",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768488656"
                    },
                    {
                        "id": "rs768488656",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs768488656#frequency_tab"
                    },
                    {
                        "id": "rs768488656",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs768488656"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 696,
                "end_pos": 696,
                "sequence_org": "A",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244216",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A696",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1956071776",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1956071776"
                    },
                    {
                        "id": "rs1956071776",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1956071776"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 696,
                "end_pos": 696,
                "sequence_org": "A",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244217",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A696",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 698,
                "end_pos": 698,
                "sequence_org": "P",
                "sequence_mut": "R",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44244223",
                "ref_nt": "C",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "P698",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2135284123",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135284123"
                    },
                    {
                        "id": "rs2135284123",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135284123"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 698,
                "end_pos": 698,
                "sequence_org": "P",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244222",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P698",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1233637988",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1233637988"
                    },
                    {
                        "id": "rs1233637988",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1233637988"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 699,
                "end_pos": 699,
                "sequence_org": "V",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244226",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V699",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 69,
                "end_pos": 69,
                "sequence_org": "V",
                "sequence_mut": "F",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44107917",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "V69",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2134966407",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134966407"
                    },
                    {
                        "id": "rs2134966407",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2134966407"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 69,
                "end_pos": 69,
                "sequence_org": "V",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107918",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V69",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs200809171",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200809171"
                    },
                    {
                        "id": "rs200809171",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs200809171"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 69,
                "end_pos": 69,
                "sequence_org": "V",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107917",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V69",
                "disease": [
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
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                            "url": "http://disease-ontology.org/term/DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "id": "MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010846",
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                            {
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                            {
                                "id": "206",
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                            {
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                            {
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                            {
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
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                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0010846",
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010846",
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            },
                            {
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                    }
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            },
            {
                "evidence": [
                    {
                        "id": "",
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                    },
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            },
            {
                "evidence": [
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                    {
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                ],
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                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                    "germline"
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            },
            {
                "evidence": [
                    {
                        "id": "rs2135284178",
                        "database": "dbSNP",
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                    },
                    {
                        "id": "rs2135284178",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135284178"
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                ],
                "glycoeffect": [],
                "start_pos": 704,
                "end_pos": 704,
                "sequence_org": "D",
                "sequence_mut": "E",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44244242",
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                "alt_nt": "null",
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                "site_lbl": "D704",
                "keywords": [
                    "ebi",
                    "germline"
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            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 705,
                "end_pos": 705,
                "sequence_org": "F",
                "sequence_mut": "V",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
                "chr_pos": "44244243",
                "ref_nt": "T",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "F705",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1804677",
                        "database": "dbSNP",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "rs761713851",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761713851"
                    },
                    {
                        "id": "rs761713851",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761713851"
                    },
                    {
                        "id": "rs761713851",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs761713851#frequency_tab"
                    },
                    {
                        "id": "rs761713851",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs761713851"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 707,
                "end_pos": 707,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44244249",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "E707",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3451",
                            "DOID:3149"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs769426160",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769426160"
                    },
                    {
                        "id": "rs769426160",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769426160"
                    },
                    {
                        "id": "rs769426160",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs769426160#frequency_tab"
                    },
                    {
                        "id": "rs769426160",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs769426160"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 707,
                "end_pos": 707,
                "sequence_org": "E",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244250",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E707",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs773028753",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773028753"
                    },
                    {
                        "id": "rs773028753",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773028753"
                    },
                    {
                        "id": "rs773028753",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs773028753"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 708,
                "end_pos": 708,
                "sequence_org": "K",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244254",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K708",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1956072366",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1956072366"
                    },
                    {
                        "id": "rs1956072366",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1956072366"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 709,
                "end_pos": 709,
                "sequence_org": "L",
                "sequence_mut": "Q",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244256",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L709",
                "disease": [
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                        ],
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                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
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                        ]
                    },
                    {
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                            },
                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
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                            {
                                "id": "DOID:206",
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                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                        "evidence": [
                            {
                                "id": "206",
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                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
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                        ]
                    }
                ],
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            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
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                ],
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                    "somatic"
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            },
            {
                "evidence": [
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                    {
                        "id": "rs763040366",
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                    {
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                    {
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                ],
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                "sequence_org": "R",
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                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44107922",
                "ref_nt": "C",
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                "minor_allelic_frequency": "",
                "site_lbl": "R70",
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                    "ebi",
                    "germline"
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            },
            {
                "evidence": [
                    {
                        "id": "rs773585874",
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                    {
                        "id": "rs773585874",
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                    {
                        "id": "rs773585874",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs773585874"
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                ],
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                "sequence_org": "R",
                "sequence_mut": "W",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                    "ebi",
                    "germline"
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            },
            {
                "evidence": [
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                    {
                        "id": "rs762848035",
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                    {
                        "id": "rs762848035",
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                    {
                        "id": "rs762848035",
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                ],
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                "end_pos": 710,
                "sequence_org": "K",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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            },
            {
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                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
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                ],
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                "end_pos": 711,
                "sequence_org": "S",
                "sequence_mut": "I",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000011.10",
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                    "ebi",
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            },
            {
                "evidence": [
                    {
                        "id": "rs752842279",
                        "database": "dbSNP",
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                ],
                "glycoeffect": [
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                "sequence_org": "S",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44244263",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S711",
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                    {
                        "disease_id": "DOID:206",
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                            "url": "http://disease-ontology.org/term/DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs766328349",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766328349"
                    },
                    {
                        "id": "rs766328349",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766328349"
                    },
                    {
                        "id": "rs766328349",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs766328349#frequency_tab"
                    },
                    {
                        "id": "rs766328349",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs766328349"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 711,
                "end_pos": 711,
                "sequence_org": "S",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244262",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S711",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2135284245",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135284245"
                    },
                    {
                        "id": "rs2135284245",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135284245"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 713,
                "end_pos": 713,
                "sequence_org": "P",
                "sequence_mut": "H",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244268",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P713",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "rs2135284245",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135284245"
                    },
                    {
                        "id": "rs2135284245",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2135284245"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 713,
                "end_pos": 713,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "P",
                "sequence_mut": "L",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44244268",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "P713",
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                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
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                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
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                        "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": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3451",
                            "DOID:3149"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 715,
                "end_pos": 715,
                "subjects_tested": "2003",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "I",
                "sequence_mut": "F",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44244273",
                "ref_nt": "A",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "I715",
                "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": ""
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "3571",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3571"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2135284277",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135284277"
                    },
                    {
                        "id": "rs2135284277",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2135284277"
                    }
                ],
                "glycoeffect": [],
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                "end_pos": 715,
                "sequence_org": "I",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44244274",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I715",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs199564714",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199564714"
                    },
                    {
                        "id": "rs199564714",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199564714"
                    },
                    {
                        "id": "rs199564714",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs199564714#frequency_tab"
                    },
                    {
                        "id": "rs199564714",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs199564714"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 715,
                "end_pos": 715,
                "sequence_org": "I",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44244273",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I715",
                "disease": [
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                            },
                            {
                                "id": "MONDO:0010846",
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                            {
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                            },
                            {
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                                "description": ""
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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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                            {
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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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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                    {
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                            {
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1367046605",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1367046605"
                    },
                    {
                        "id": "rs1367046605",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1367046605"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
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                "end_pos": 717,
                "sequence_org": "S",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44244280",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S717",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1471608126",
                        "database": "dbSNP",
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                    },
                    {
                        "id": "rs1471608126",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1471608126#frequency_tab"
                    },
                    {
                        "id": "rs1471608126",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1471608126"
                    }
                ],
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                    "o-glyco-site-loss"
                ],
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                "end_pos": 717,
                "sequence_org": "S",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44244281",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S717",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1954081372",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954081372"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 71,
                "end_pos": 71,
                "sequence_org": "L",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44107923",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L71",
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                    {
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                            "id": "DOID:206",
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                            "url": "http://disease-ontology.org/term/DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
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                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
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                "end_pos": 72,
                "sequence_org": "P",
                "sequence_mut": "L",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
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                "minor_allelic_frequency": "",
                "site_lbl": "P72",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2134966478",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134966478"
                    },
                    {
                        "id": "rs2134966478",
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                        "url": "https://www.ensembl.org/id/rs2134966478"
                    }
                ],
                "glycoeffect": [],
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                "end_pos": 72,
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44107926",
                "ref_nt": "T",
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                "minor_allelic_frequency": "",
                "site_lbl": "P72",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2134966500",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134966500"
                    },
                    {
                        "id": "rs2134966500",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2134966500"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 73,
                "end_pos": 73,
                "sequence_org": "A",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107929",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A73",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2134966500",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134966500"
                    },
                    {
                        "id": "rs2134966500",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2134966500"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 73,
                "end_pos": 73,
                "sequence_org": "A",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107929",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A73",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "rs2134966521",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134966521"
                    },
                    {
                        "id": "rs2134966521",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2134966521"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 73,
                "end_pos": 73,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "A",
                "sequence_mut": "V",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44107930",
                "ref_nt": "C",
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                "minor_allelic_frequency": "",
                "site_lbl": "A73",
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                            "resource": "Disease Ontology",
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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "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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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                            {
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                            {
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                    },
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                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2134966556",
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                    },
                    {
                        "id": "rs2134966556",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2134966556"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 74,
                "end_pos": 74,
                "sequence_org": "D",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44107933",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D74",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1954081590",
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                    },
                    {
                        "id": "rs1954081590",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1954081590"
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                ],
                "glycoeffect": [
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                "start_pos": 75,
                "end_pos": 75,
                "sequence_org": "S",
                "sequence_mut": "C",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107935",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S75",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2134966581",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134966581"
                    },
                    {
                        "id": "rs2134966581",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2134966581"
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                ],
                "glycoeffect": [
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                ],
                "start_pos": 75,
                "end_pos": 75,
                "sequence_org": "S",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107936",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S75",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs768071412",
                        "database": "dbSNP",
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                    },
                    {
                        "id": "rs768071412",
                        "database": "ExAC",
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                    {
                        "id": "rs768071412",
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                    },
                    {
                        "id": "rs768071412",
                        "database": "gnomAD",
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                    }
                ],
                "glycoeffect": [],
                "start_pos": 76,
                "end_pos": 76,
                "sequence_org": "P",
                "sequence_mut": "H",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107939",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P76",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs768071412",
                        "database": "dbSNP",
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                    },
                    {
                        "id": "rs768071412",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768071412"
                    },
                    {
                        "id": "rs768071412",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs768071412#frequency_tab"
                    },
                    {
                        "id": "rs768071412",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs768071412"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 76,
                "end_pos": 76,
                "sequence_org": "P",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107939",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P76",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs999897934",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs999897934"
                    },
                    {
                        "id": "rs999897934",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs999897934#frequency_tab"
                    },
                    {
                        "id": "rs999897934",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs999897934"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 76,
                "end_pos": 76,
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107938",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.000196232",
                "site_lbl": "P76",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs999897934",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs999897934"
                    },
                    {
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                    },
                    {
                        "id": "rs999897934",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs999897934"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 76,
                "end_pos": 76,
                "sequence_org": "P",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107938",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.000196232",
                "site_lbl": "P76",
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                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            },
                            {
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                            },
                            {
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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                            },
                            {
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                    }
                ],
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            {
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                "end_pos": 79,
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                "comment": "Germline mutation passed 0 out of 0 filters:",
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                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
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                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                                "id": "MONDO:0007586",
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
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                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
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                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                            },
                            {
                                "id": "206",
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                    }
                ],
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            },
            {
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                    },
                    {
                        "id": "",
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                ],
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                                "resource": "Disease Ontology",
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                                "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",
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                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
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                                "name": "tumor of head and neck",
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                        ],
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                ],
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                    "ebi"
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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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                    {
                        "disease_id": "DOID:206",
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                        },
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
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                                "description": ""
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                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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                                "description": "Hereditary multiple exostoses 2"
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                            },
                            {
                                "id": "206",
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                            {
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                            {
                                "id": "DOID:206",
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                            {
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                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                                "id": "MONDO:0010846",
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                            },
                            {
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                    },
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                            {
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                            },
                            {
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                                "description": ""
                            },
                            {
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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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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
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                            },
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                    },
                    {
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            },
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                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
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                                "resource": "MIM",
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                    }
                ],
                "keywords": [
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            },
            {
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                    {
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                    {
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                ],
                "glycoeffect": [],
                "start_pos": 80,
                "end_pos": 80,
                "sequence_org": "R",
                "sequence_mut": "W",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107950",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R80",
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                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
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                            },
                            {
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                            },
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                                "id": "MIM:133700",
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                        ],
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                            {
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                            },
                            {
                                "id": "206",
                                "database": "AGR",
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                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
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                            "id": "DOID:206",
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                        },
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            },
                            {
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                                "resource": "MIM",
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                            },
                            {
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                            },
                            {
                                "id": "206",
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                            }
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                    }
                ],
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                    "ebi",
                    "somatic",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1565196333",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1565196333"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 80,
                "end_pos": 80,
                "sequence_org": "R",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107950",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R80",
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                    {
                        "disease_id": "DOID:206",
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                        ],
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                    }
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                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
                            {
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                                "description": ""
                            },
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                                "id": "MIM:133700",
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                                "url": "https://www.omim.org/entry/133700",
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                            },
                            {
                                "id": "206",
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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:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
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                            },
                            {
                                "id": "DOID:206",
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                            },
                            {
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                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                            {
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                            },
                            {
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                            {
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                            {
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                            },
                            {
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                        ]
                    },
                    {
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                            {
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                            },
                            {
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "multiple ostechondromas",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                        ],
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                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
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                            }
                        ]
                    }
                ],
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                    "disease"
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            },
            {
                "evidence": [
                    {
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                    },
                    {
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                    }
                ],
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            {
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                    {
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                ],
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                    {
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                            {
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                            {
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                            {
                                "id": "DOID:206",
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                            {
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                            {
                                "id": "DOID:206",
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
                                "id": "DOID:206",
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                                "description": ""
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                            {
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                                "url": "http://disease-ontology.org/term/DOID:206",
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010846",
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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:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
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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": "206",
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                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs758194845",
                        "database": "dbSNP",
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                    },
                    {
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                    },
                    {
                        "id": "rs758194845",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs758194845"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 87,
                "end_pos": 87,
                "sequence_org": "M",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107973",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "M87",
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                            {
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                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
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                            },
                            {
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "description": ""
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                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                            },
                            {
                                "id": "206",
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                    }
                ],
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                "end_pos": 87,
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                                "description": ""
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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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",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
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                                "description": ""
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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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:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                            {
                                "id": "MONDO:0007586",
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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:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
                                "id": "MONDO:0007586",
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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": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "name": "EXT",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    },
                    {
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                            "id": "DOID:206",
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                            "url": "http://disease-ontology.org/term/DOID:206",
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                        },
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                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
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                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
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                    },
                    {
                        "id": "rs2134966893",
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                ],
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                "end_pos": 88,
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                "minor_allelic_frequency": "",
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                    "germline"
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            },
            {
                "evidence": [
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                    {
                        "id": "rs35455466",
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                        "id": "rs35455466",
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                    {
                        "id": "rs35455466",
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                    },
                    {
                        "id": "rs35455466",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs35455466"
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                ],
                "glycoeffect": [],
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                "end_pos": 88,
                "sequence_org": "H",
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                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44107976",
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                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2134966881",
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                    },
                    {
                        "id": "rs2134966881",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2134966881"
                    }
                ],
                "glycoeffect": [],
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                "end_pos": 88,
                "sequence_org": "H",
                "sequence_mut": "Y",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44107974",
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                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "H88",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs746889702",
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                    },
                    {
                        "id": "rs746889702",
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                    {
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                    {
                        "id": "rs746889702",
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                    {
                        "id": "rs746889702",
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                ],
                "glycoeffect": [
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                "start_pos": 89,
                "end_pos": 89,
                "sequence_org": "T",
                "sequence_mut": "A",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
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                "chr_pos": "44107977",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
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                    {
                        "disease_id": "DOID:206",
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                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
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                            },
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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                            },
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                            {
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                            },
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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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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                            {
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                    {
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                            {
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                            {
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
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                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "somatic",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs143048174",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143048174"
                    },
                    {
                        "id": "rs143048174",
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143048174"
                    },
                    {
                        "id": "rs143048174",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143048174"
                    },
                    {
                        "id": "rs143048174",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs143048174#frequency_tab"
                    },
                    {
                        "id": "rs143048174",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs143048174"
                    },
                    {
                        "id": "rs143048174",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143048174"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 89,
                "end_pos": 89,
                "sequence_org": "T",
                "sequence_mut": "M",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107978",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T89",
                "disease": [
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
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                            "url": "http://disease-ontology.org/term/DOID:206",
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                        },
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                            {
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                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
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                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "MONDO:0007585",
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                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            {
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                        ],
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                            },
                            {
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                        ]
                    },
                    {
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                            {
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
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                            },
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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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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                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
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                            {
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                            },
                            {
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
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                            },
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                                "id": "MONDO:0007586",
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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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                                "description": ""
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                            {
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                            {
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                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
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                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                        ],
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                            {
                                "id": "206",
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                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
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                            }
                        ]
                    }
                ],
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                    "disease"
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            },
            {
                "evidence": [
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                    },
                    {
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                    {
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                "minor_allelic_frequency": "",
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                    "germline"
                ]
            },
            {
                "evidence": [
                    {
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                ],
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                "end_pos": 8,
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                            },
                            {
                                "id": "DOID:206",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
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                                "id": "MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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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": "DOID:206",
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                                "description": ""
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
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                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
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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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                                "description": ""
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                                "description": ""
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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:0007586",
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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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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                            },
                            {
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                            },
                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            },
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                                "url": "https://www.omim.org/entry/133700",
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
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                                "name": "Hereditary multiple exostoses 2",
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                            },
                            {
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                ],
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                    "disease"
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            },
            {
                "evidence": [
                    {
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                    },
                    {
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                ],
                "glycoeffect": [],
                "start_pos": 92,
                "end_pos": 92,
                "sequence_org": "D",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107986",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D92",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1405107639",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1405107639"
                    },
                    {
                        "id": "rs1405107639",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1405107639#frequency_tab"
                    },
                    {
                        "id": "rs1405107639",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1405107639"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 92,
                "end_pos": 92,
                "sequence_org": "D",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44107987",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D92",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 92,
                "end_pos": 92,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "D",
                "sequence_mut": "Y",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
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                "chr_pos": "44107986",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "D92",
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                    {
                        "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": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3451",
                            "DOID:3149"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    }
                ],
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                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
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                    },
                    {
                        "id": "rs773387959",
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                    },
                    {
                        "id": "rs773387959",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs773387959"
                    }
                ],
                "glycoeffect": [],
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                "end_pos": 93,
                "sequence_org": "V",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "44107990",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V93",
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                    {
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                        "recommended_name": {
                            "id": "DOID:206",
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                            "url": "http://disease-ontology.org/term/DOID:206",
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                        },
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                            {
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "206",
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                            {
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
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                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            },
                            {
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                            },
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                                "url": "https://www.omim.org/entry/133700",
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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                                "description": "Hereditary multiple exostoses 2"
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                            },
                            {
                                "id": "206",
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                    }
                ],
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            },
            {
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            {
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                "end_pos": 94,
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                "chr_pos": "44107994",
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                "alt_nt": "null",
                "minor_allelic_frequency": "",
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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:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010846",
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                                "resource": "MIM",
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                                "id": "206",
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                        ],
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                            },
                            {
                                "id": "206",
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                            }
                        ]
                    }
                ],
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            },
            {
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                "end_pos": 94,
                "sequence_org": "Y",
                "sequence_mut": "C",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107993",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y94",
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                    {
                        "disease_id": "DOID:206",
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
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                            },
                            {
                                "id": "DOID:206",
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
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                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
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                            {
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                            {
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                            {
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                                "resource": "MIM",
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                    },
                    {
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                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                                "id": "MONDO:0007586",
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                                "description": ""
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                                "id": "206",
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                            },
                            {
                                "id": "206",
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                        ]
                    }
                ],
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            },
            {
                "evidence": [
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                    },
                    {
                        "id": "rs376292686",
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                    },
                    {
                        "id": "rs376292686",
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                    },
                    {
                        "id": "rs376292686",
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                    {
                        "id": "rs376292686",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs376292686"
                    },
                    {
                        "id": "26246518",
                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/26246518"
                    },
                    {
                        "id": "rs376292686",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376292686"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 95,
                "end_pos": 95,
                "subjects_tested": "2670",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "C",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44107995",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R95",
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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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                                "name": "brain neoplasm, adult",
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                            {
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                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "resource": "Disease Ontology",
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                            {
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                            {
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                            },
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                            }
                        ],
                        "unlinked_id_list": [
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                            "DOID:4203",
                            "DOID:368",
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                    },
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                            {
                                "id": "DOID:206",
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                            },
                            {
                                "id": "DOID:206",
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                            {
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                            {
                                "id": "DOID:206",
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                            },
                            {
                                "id": "DOID:206",
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                            },
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
                                "id": "MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
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                            {
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                            },
                            {
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                                "id": "MONDO:0007586",
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                            {
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                            {
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                            {
                                "id": "MONDO:0007585",
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                            {
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                                "description": ""
                            },
                            {
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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:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                                "description": ""
                            },
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                                "description": ""
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                                "id": "MIM:133700",
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                                "description": "Hereditary multiple exostoses 1"
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                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                            },
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                                "id": "206",
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                        ]
                    },
                    {
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                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                                "id": "MONDO:0007586",
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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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                            {
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                            {
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                            {
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            },
                            {
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                                "resource": "MONDO",
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
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                            },
                            {
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                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "name": "exostoses, multiple caused by mutation in EXT2",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs376292686",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376292686"
                    },
                    {
                        "id": "rs376292686",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376292686"
                    },
                    {
                        "id": "rs376292686",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376292686"
                    },
                    {
                        "id": "rs376292686",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs376292686#frequency_tab"
                    },
                    {
                        "id": "rs376292686",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs376292686"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 95,
                "end_pos": 95,
                "sequence_org": "R",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107995",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R95",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "rs143703574",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143703574"
                    },
                    {
                        "id": "rs143703574",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143703574"
                    },
                    {
                        "id": "rs143703574",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143703574"
                    },
                    {
                        "id": "rs143703574",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs143703574#frequency_tab"
                    },
                    {
                        "id": "rs143703574",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs143703574"
                    },
                    {
                        "id": "rs143703574",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143703574"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 95,
                "end_pos": 95,
                "subjects_tested": "1704",
                "subjects_positive": "2",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "H",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44107996",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R95",
                "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": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:5166",
                            "DOID:4114",
                            "DOID:2021",
                            "DOID:9460"
                        ],
                        "evidence": [
                            {
                                "id": "363",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:363"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010846",
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                            },
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                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
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                            },
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                            {
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                            {
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
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                            {
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            },
                            {
                                "id": "MONDO:0007586",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                                "id": "MONDO:0007586",
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                            },
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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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:0007586",
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                            {
                                "id": "MONDO:0007586",
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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": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            {
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs143703574",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143703574"
                    },
                    {
                        "id": "rs143703574",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143703574"
                    },
                    {
                        "id": "rs143703574",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143703574"
                    },
                    {
                        "id": "rs143703574",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs143703574#frequency_tab"
                    },
                    {
                        "id": "rs143703574",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs143703574"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 95,
                "end_pos": 95,
                "sequence_org": "R",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44107996",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R95",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q93063",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q93063"
                    },
                    {
                        "id": "rs112231770",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs112231770"
                    },
                    {
                        "id": "rs112231770",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs112231770"
                    },
                    {
                        "id": "rs112231770",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs112231770"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 96,
                "end_pos": 96,
                "subjects_tested": "4484",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "C",
                "sequence_mut": "S",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "44107998",
                "ref_nt": "T",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "C96",
                "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": "An organ system 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"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3017",
                            "DOID:0050938"
                        ],
                        "evidence": [
                            {
                                "id": "1612",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1612"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs920725366",
                        "database": "dbSNP",
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                            {
                                "id": "MONDO:0007586",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                                "id": "MONDO:0007586",
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                            },
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                            {
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                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            },
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                            },
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                                "resource": "MIM",
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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": "https://monarchinitiative.org/disease/MONDO:0007585",
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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": "https://monarchinitiative.org/disease/MONDO:0007585",
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                                "description": ""
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                            {
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                                "description": ""
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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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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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                            {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                            {
                                "id": "MONDO:0007586",
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                            },
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                            {
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                            },
                            {
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                            },
                            {
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                                "description": "Hereditary multiple exostoses 1"
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                            {
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                                "resource": "MIM",
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                    },
                    {
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                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "diaphyseal Aclasis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple cartilaginous exostoses",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "multiple osteochondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "osteochondromatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "Ext2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2134967127",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2134967127"
                    },
                    {
                        "id": "rs2134967127",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2134967127"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 99,
                "end_pos": 99,
                "sequence_org": "N",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "44108009",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N99",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            }
        ]
    }
}
