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"url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ] } ], "uniprot_canonical_ac": "Q8WXI7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8WXI7-1", "start_pos": 139, "end_pos": 139, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Mucin-16", "gene_name": "MUC16", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 34.8, "length": 14507, "chemical_mass": 1519175.0 } ] }, { "start_pos": "922", "end_pos": "984", "site_lbl": "Asn922", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->KAT).", "chr_id": "7", "chr_pos": "44113308", "evidence": [ { "id": "rs746396415", "database": "dbSNP", "url": 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"http://gnomad.broadinstitute.org/awesome?query=rs774430947" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->SQT).", "chr_id": "7", "chr_pos": "29064161", "evidence": [ { "id": "rs535663848", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs535663848" }, { "id": "rs535663848", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs535663848" } ] } ], "uniprot_canonical_ac": "Q9H3G5-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9H3G5-1", "start_pos": 346, "end_pos": 346, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Probable serine carboxypeptidase CPVL", "gene_name": "CPVL", "tax_id": 9606, "tax_name": 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"Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NKT->SKT).", "chr_id": "7", "chr_pos": "29112750", "evidence": [ { "id": "Q9H3G5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H3G5" }, { "id": "rs771212555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771212555" }, { "id": "rs771212555", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771212555" }, { "id": "rs771212555", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771212555" }, { "id": "rs771212555", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs771212555" } ], "disease": [ { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": 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"https://www.alliancegenome.org/disease/DOID:9256" } ] } ] } ], "uniprot_canonical_ac": "Q6EMK4-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6EMK4-1", "start_pos": 500, "end_pos": 500, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Vasorin", "gene_name": "VASN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 17.9, "length": 673, "chemical_mass": 71713.0 } ] }, { "start_pos": "766", "end_pos": "9", "site_lbl": "Asn766", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12649404_12649410", "evidence": [ { "id": "rs2512488403", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512488403" } ], 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