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                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0070254",
                                "name": "glucosidase I deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-congenital disorder of glycosylation",
                                "description": "MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)."
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG syndrome type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG-IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-congenital disorder of glycosylation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "carbohydrate deficient glycoprotein syndrome type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation type 2b",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "glucosidase 1 deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG 2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "GCS1-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-CDG (CDG-IIb)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation, type IIb",
                                "description": ""
                            },
                            {
                                "id": "MIM:606056",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/606056",
                                "name": "Type IIb congenital disorder of glycosylation",
                                "description": "Type IIb congenital disorder of glycosylation"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011629",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629"
                            },
                            {
                                "id": "606056",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/606056"
                            },
                            {
                                "id": "MOGS",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MOGS/#!details"
                            },
                            {
                                "id": "7841",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/7841#disease"
                            },
                            {
                                "id": "0070254",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0070254"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "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": [],
                "start_pos": 142,
                "end_pos": 142,
                "sequence_org": "G",
                "sequence_mut": "R",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000002.12",
                "chr_pos": "74464651",
                "ref_nt": "C",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "G142",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1672014883",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1672014883"
                    },
                    {
                        "id": "rs1672014883",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1672014883#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 142,
                "end_pos": 142,
                "sequence_org": "G",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464651",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G142",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q13724",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13724"
                    },
                    {
                        "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": 144,
                "end_pos": 144,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "G",
                "sequence_mut": "C",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "2",
                "chr_pos": "74464645",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "G144",
                "disease": [
                    {
                        "disease_id": "DOID:9256",
                        "recommended_name": {
                            "id": "DOID:9256",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:9256",
                            "name": "colorectal cancer",
                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "large intestine cancer",
                                "description": ""
                            },
                            {
                                "id": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "9256",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:9256"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs772279173",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772279173"
                    },
                    {
                        "id": "rs772279173",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772279173"
                    },
                    {
                        "id": "rs772279173",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs772279173#frequency_tab"
                    },
                    {
                        "id": "rs772279173",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs772279173"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 144,
                "end_pos": 144,
                "sequence_org": "G",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464644",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G144",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q13724",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13724"
                    },
                    {
                        "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": 145,
                "end_pos": 145,
                "subjects_tested": "4484",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "P",
                "sequence_mut": "A",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "2",
                "chr_pos": "74464642",
                "ref_nt": "G",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "P145",
                "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",
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                            },
                            {
                                "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",
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                                "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",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "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"
                            }
                        ],
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                            "DOID:0050938"
                        ],
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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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                    {
                        "id": "rs576166441",
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                    {
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                    {
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                ],
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                            {
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                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG-IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-congenital disorder of glycosylation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "carbohydrate deficient glycoprotein syndrome type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation type 2b",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "glucosidase 1 deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG 2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "GCS1-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-CDG (CDG-IIb)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation, type IIb",
                                "description": ""
                            },
                            {
                                "id": "MIM:606056",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/606056",
                                "name": "Type IIb congenital disorder of glycosylation",
                                "description": "Type IIb congenital disorder of glycosylation"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011629",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629"
                            },
                            {
                                "id": "606056",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/606056"
                            },
                            {
                                "id": "MOGS",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MOGS/#!details"
                            },
                            {
                                "id": "7841",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/7841#disease"
                            },
                            {
                                "id": "0070254",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0070254"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0070254",
                        "recommended_name": {
                            "id": "DOID:0070254",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0070254",
                            "name": "congenital disorder of glycosylation type IIb",
                            "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0070254",
                                "name": "CDG IIb",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0070254",
                                "name": "CDG2B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0070254",
                                "name": "CDGIIb",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0070254",
                                "name": "glucosidase I deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-congenital disorder of glycosylation",
                                "description": "MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)."
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG syndrome type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG-IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-congenital disorder of glycosylation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "carbohydrate deficient glycoprotein syndrome type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation type 2b",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "glucosidase 1 deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG 2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "GCS1-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-CDG (CDG-IIb)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation, type IIb",
                                "description": ""
                            },
                            {
                                "id": "MIM:606056",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/606056",
                                "name": "Type IIb congenital disorder of glycosylation",
                                "description": "Type IIb congenital disorder of glycosylation"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011629",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629"
                            },
                            {
                                "id": "606056",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/606056"
                            },
                            {
                                "id": "MOGS",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MOGS/#!details"
                            },
                            {
                                "id": "7841",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/7841#disease"
                            },
                            {
                                "id": "0070254",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0070254"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1672014549",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1672014549"
                    },
                    {
                        "id": "rs1672014549",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1672014549"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 147,
                "end_pos": 147,
                "sequence_org": "G",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464635",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G147",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q13724",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13724"
                    },
                    {
                        "id": "rs368044007",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368044007"
                    },
                    {
                        "id": "rs368044007",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368044007"
                    },
                    {
                        "id": "rs368044007",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs368044007#frequency_tab"
                    },
                    {
                        "id": "rs368044007",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs368044007"
                    },
                    {
                        "id": "rs368044007",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368044007"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 148,
                "end_pos": 148,
                "subjects_tested": "2003",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "W",
                "sequence_mut": "*",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "2",
                "chr_pos": "74464631",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "W148",
                "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",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1355402892",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355402892"
                    },
                    {
                        "id": "rs1355402892",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1355402892#frequency_tab"
                    },
                    {
                        "id": "rs1355402892",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1355402892"
                    },
                    {
                        "id": "rs1355402892",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1355402892"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 149,
                "end_pos": 149,
                "sequence_org": "E",
                "sequence_mut": "D",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464628",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E149",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs749750458",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749750458"
                    },
                    {
                        "id": "rs749750458",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749750458"
                    },
                    {
                        "id": "rs749750458",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs749750458"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 149,
                "end_pos": 149,
                "sequence_org": "E",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464629",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E149",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs757175371",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757175371"
                    },
                    {
                        "id": "rs757175371",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757175371"
                    },
                    {
                        "id": "rs757175371",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs757175371"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 14,
                "end_pos": 14,
                "sequence_org": "E",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74465206",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E14",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs781033099",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781033099"
                    },
                    {
                        "id": "rs781033099",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781033099"
                    },
                    {
                        "id": "rs781033099",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs781033099#frequency_tab"
                    },
                    {
                        "id": "rs781033099",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs781033099"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 14,
                "end_pos": 14,
                "sequence_org": "E",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74465207",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E14",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "disease": [
                    {
                        "disease_id": "DOID:0070254",
                        "recommended_name": {
                            "id": "DOID:0070254",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0070254",
                            "name": "congenital disorder of glycosylation type IIb",
                            "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1."
                        },
                        "synonyms": [
                            {
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                            {
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                            {
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                            },
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                            "name": "congenital disorder of glycosylation type IIb",
                            "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0070254",
                                "name": "CDG IIb",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0070254",
                                "name": "CDG2B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0070254",
                                "name": "CDGIIb",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0070254",
                                "name": "glucosidase I deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-congenital disorder of glycosylation",
                                "description": "MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)."
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG syndrome type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG-IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "carbohydrate deficient glycoprotein syndrome type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation type 2b",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG 2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "GCS1-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-CDG (CDG-IIb)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation, type IIb",
                                "description": ""
                            },
                            {
                                "id": "MIM:606056",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/606056",
                                "name": "Type IIb congenital disorder of glycosylation",
                                "description": "Type IIb congenital disorder of glycosylation"
                            }
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                            {
                                "id": "0011629",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629"
                            },
                            {
                                "id": "606056",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/606056"
                            },
                            {
                                "id": "MOGS",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MOGS/#!details"
                            },
                            {
                                "id": "7841",
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                            },
                            {
                                "id": "0070254",
                                "database": "AGR",
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            },
            {
                "evidence": [
                    {
                        "id": "rs780436912",
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                    },
                    {
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                    {
                        "id": "rs780436912",
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                ],
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                "start_pos": 150,
                "end_pos": 150,
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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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                        "database": "gnomAD",
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                    }
                ],
                "glycoeffect": [],
                "start_pos": 151,
                "end_pos": 151,
                "sequence_org": "H",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "74464624",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
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                    "germline"
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            },
            {
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                    {
                        "id": "Q13724",
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                    },
                    {
                        "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": 151,
                "end_pos": 151,
                "subjects_tested": "1906",
                "subjects_positive": "1",
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                "sequence_mut": "Y",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "2",
                "chr_pos": "74464624",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "H151",
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                    {
                        "disease_id": "DOID:11054",
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                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11054",
                            "name": "urinary bladder cancer",
                            "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
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                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:11054",
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                                "description": ""
                            },
                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:11054",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": "A primary or metastatic malignant neoplasm involving the bladder."
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumor of the bladder",
                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "bladder cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "cancer of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of urinary bladder",
                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of bladder",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the bladder",
                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of urinary bladder",
                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumour",
                                "description": ""
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                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/109800",
                                "name": "Bladder cancer",
                                "description": "Bladder cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "11054",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:11054"
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                        ]
                    }
                ],
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                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
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            },
            {
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                    {
                        "id": "rs201772113",
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                    },
                    {
                        "id": "rs201772113",
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                    },
                    {
                        "id": "rs201772113",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs201772113"
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                "start_pos": 152,
                "end_pos": 152,
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                "site_lbl": "D152",
                "disease": [
                    {
                        "disease_id": "DOID:0070254",
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                            "url": "http://disease-ontology.org/term/DOID:0070254",
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                            "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1."
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
                                "id": "DOID:0070254",
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                                "id": "DOID:0070254",
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                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-congenital disorder of glycosylation",
                                "description": "MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)."
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG syndrome type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-congenital disorder of glycosylation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "carbohydrate deficient glycoprotein syndrome type IIb",
                                "description": ""
                            },
                            {
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                            },
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                            },
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                            },
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                                "resource": "MONDO",
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                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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                                "description": ""
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                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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                                "description": ""
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                                "id": "MONDO:0011629",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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                                "description": ""
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                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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                                "id": "MONDO:0011629",
                                "resource": "MONDO",
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                                "id": "MONDO:0011629",
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                            {
                                "id": "MONDO:0011629",
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                                "id": "MONDO:0011629",
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
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                            {
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                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0013631",
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                                "resource": "MONDO",
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                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MOGS/#!details"
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            },
            {
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                "sequence_org": "H",
                "sequence_mut": "Y",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464597",
                "ref_nt": "A",
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                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "malignant neoplasm of body of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "malignant neoplasm of head of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "malignant neoplasm of tail of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "pancreas neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "pancreatic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "pancreatic tumor",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:1795"
                        ],
                        "evidence": [
                            {
                                "id": "1793",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1793"
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                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1672012155",
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                    {
                        "id": "rs1672012155",
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                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 170,
                "end_pos": 170,
                "sequence_org": "T",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464566",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T170",
                "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="
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                ],
                "glycoeffect": [],
                "start_pos": 173,
                "end_pos": 173,
                "sequence_org": "V",
                "sequence_mut": "F",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000002.12",
                "chr_pos": "74464558",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "V173",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs774575750",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774575750"
                    },
                    {
                        "id": "rs774575750",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774575750"
                    },
                    {
                        "id": "rs774575750",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs774575750#frequency_tab"
                    },
                    {
                        "id": "rs774575750",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs774575750"
                    }
                ],
                "glycoeffect": [],
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                "end_pos": 173,
                "sequence_org": "V",
                "sequence_mut": "I",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "74464558",
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                "minor_allelic_frequency": "",
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                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs774575750",
                        "database": "dbSNP",
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                    },
                    {
                        "id": "rs774575750",
                        "database": "ExAC",
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                    {
                        "id": "rs774575750",
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                    },
                    {
                        "id": "rs774575750",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs774575750"
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                ],
                "glycoeffect": [],
                "start_pos": 173,
                "end_pos": 173,
                "sequence_org": "V",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464558",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V173",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q13724",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13724"
                    },
                    {
                        "id": "rs768946970",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768946970"
                    },
                    {
                        "id": "rs768946970",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768946970"
                    },
                    {
                        "id": "rs768946970",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs768946970#frequency_tab"
                    },
                    {
                        "id": "rs768946970",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs768946970"
                    },
                    {
                        "id": "rs768946970",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs768946970"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 174,
                "end_pos": 174,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "K",
                "sequence_mut": "R",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "2",
                "chr_pos": "74464554",
                "ref_nt": "T",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "K174",
                "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: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"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs780222746",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780222746"
                    },
                    {
                        "id": "rs780222746",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs780222746#frequency_tab"
                    },
                    {
                        "id": "rs780222746",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs780222746"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 175,
                "end_pos": 175,
                "sequence_org": "R",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464550",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R175",
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                    "germline"
                ]
            },
            {
                "evidence": [
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                        "id": "Q13724",
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                ],
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                "sequence_mut": "S",
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                "chr_pos": "74464549",
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                "minor_allelic_frequency": "",
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                            "description": "A female reproductive organ cancer that is located_in the uterus."
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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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                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
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                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "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": [
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                                "id": "363",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:363"
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                        ]
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                ],
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                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
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                        "id": "rs1672011660",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1672011660"
                    },
                    {
                        "id": "rs1672011660",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1672011660"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 177,
                "end_pos": 177,
                "sequence_org": "G",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464546",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G177",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1214300593",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1214300593"
                    },
                    {
                        "id": "rs1214300593",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1214300593#frequency_tab"
                    },
                    {
                        "id": "rs1214300593",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1214300593"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 178,
                "end_pos": 178,
                "sequence_org": "G",
                "sequence_mut": "C",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "74464543",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G178",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
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                        "id": "rs1214300593",
                        "database": "dbSNP",
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                    },
                    {
                        "id": "rs1214300593",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1214300593#frequency_tab"
                    },
                    {
                        "id": "rs1214300593",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1214300593"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 178,
                "end_pos": 178,
                "sequence_org": "G",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464543",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G178",
                "disease": [
                    {
                        "disease_id": "DOID:0070254",
                        "recommended_name": {
                            "id": "DOID:0070254",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0070254",
                            "name": "congenital disorder of glycosylation type IIb",
                            "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0070254",
                                "name": "CDG IIb",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0070254",
                                "name": "CDG2B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0070254",
                                "name": "CDGIIb",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0070254",
                                "name": "glucosidase I deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-congenital disorder of glycosylation",
                                "description": "MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)."
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG syndrome type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG-IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-congenital disorder of glycosylation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "carbohydrate deficient glycoprotein syndrome type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation type 2b",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
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                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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                                "description": ""
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                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "carbohydrate deficient glycoprotein syndrome type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation type 2b",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "congenital disorder of glycosylation type IIb",
                                "description": ""
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                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "glucosidase 1 deficiency",
                                "description": ""
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                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
                                "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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                                "id": "MONDO:0007576",
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                                "id": "MONDO:0007576",
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                            {
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                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
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                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "oesophagus cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca lower third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca lower third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca middle third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca middle third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of distal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of lower third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of lower third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of abdominal esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of the middle third of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of abdominal oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of distal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of proximal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of the middle third of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Aerodigestive tract cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Escc, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal squamous cell carcinoma, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "gastric cardia adenocarcinoma, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MIM:133239",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133239",
                                "name": "Esophageal cancer",
                                "description": "Esophageal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "5041",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:5041"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1309698530",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1309698530"
                    },
                    {
                        "id": "rs1309698530",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1309698530#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 180,
                "end_pos": 180,
                "sequence_org": "H",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464537",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "H180",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1672011292",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1672011292"
                    },
                    {
                        "id": "rs1672011292",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1672011292"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 180,
                "end_pos": 180,
                "sequence_org": "H",
                "sequence_mut": "Q",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464535",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "H180",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1256561772",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1256561772"
                    },
                    {
                        "id": "rs1256561772",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1256561772"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 181,
                "end_pos": 181,
                "sequence_org": "G",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464533",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G181",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs763229955",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763229955"
                    },
                    {
                        "id": "rs763229955",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763229955"
                    },
                    {
                        "id": "rs763229955",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs763229955"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 181,
                "end_pos": 181,
                "sequence_org": "G",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464534",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G181",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q13724",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q13724"
                    },
                    {
                        "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": 182,
                "end_pos": 182,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "G",
                "sequence_mut": "V",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "2",
                "chr_pos": "74464530",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "G182",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs770186539",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770186539"
                    },
                    {
                        "id": "rs770186539",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770186539"
                    },
                    {
                        "id": "rs770186539",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs770186539#frequency_tab"
                    },
                    {
                        "id": "rs770186539",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs770186539"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 183,
                "end_pos": 183,
                "sequence_org": "D",
                "sequence_mut": "E",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464526",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D183",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1311743222",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1311743222"
                    },
                    {
                        "id": "rs1311743222",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1311743222"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 183,
                "end_pos": 183,
                "sequence_org": "D",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464527",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D183",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1672011032",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1672011032"
                    },
                    {
                        "id": "rs1672011032",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1672011032#frequency_tab"
                    },
                    {
                        "id": "rs1672011032",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1672011032"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 183,
                "end_pos": 183,
                "sequence_org": "D",
                "sequence_mut": "Y",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464528",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D183",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2529503222",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2529503222"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 184,
                "end_pos": 184,
                "sequence_org": "W",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "2",
                "chr_pos": "74464524",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W184",
                "disease": [
                    {
                        "disease_id": "DOID:0070254",
                        "recommended_name": {
                            "id": "DOID:0070254",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0070254",
                            "name": "congenital disorder of glycosylation type IIb",
                            "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0070254",
                                "name": "CDG IIb",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0070254",
                                "name": "CDG2B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0070254",
                                "name": "CDGIIb",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070254",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0070254",
                                "name": "glucosidase I deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-congenital disorder of glycosylation",
                                "description": "MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)."
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG syndrome type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG-IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "CDG2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "MOGS-congenital disorder of glycosylation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
                                "name": "carbohydrate deficient glycoprotein syndrome type IIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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        ]
    }
}